Mercurial > repos > elixir-it > vinyl
changeset 1:da94ac699bfa draft default tip
Uploaded
| author | elixir-it |
|---|---|
| date | Wed, 15 Jul 2020 07:52:10 +0000 |
| parents | 5d1070767d27 |
| children | |
| files | VINYL_M.xml test-data/DCM_genes.tabular test-data/RIS.vcf test-data/TSI_annotated.vcf test-data/VINYL_output1_test.tabular test-data/VINYL_output2_test.vcf test-data/VINYL_output3_test.tabular test-data/efile.txt test-data/kfile.txt test-data/log.txt test-data/qfile.txt test-data/sfile.txt |
| diffstat | 11 files changed, 15865 insertions(+), 415 deletions(-) [+] |
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--- a/VINYL_M.xml Tue Jun 09 16:18:24 2020 +0000 +++ b/VINYL_M.xml Wed Jul 15 07:52:10 2020 +0000 @@ -103,10 +103,15 @@ </stdio> <tests> <test> - <param name="VcfFile" value="RIS.vcf" ftype="vcf" /> - <output name="ofile" file="VINYL_output1_test" ftype="tabular" /> + <param name="VcfFile" value="TSI_annotated.vcf" ftype="vcf" /> + <param name="lgenes" value="DCM_genes.tabular" ftype="tabular" /> + <param name="qfile" value="qfile.txt" ftype="txt" /> + <param name="kfile" value="kfile.txt" ftype="txt" /> + <param name="efile" value="efile.txt" ftype="txt" /> + <output name="ofile" file="VINYL_output1_test.tabular" ftype="tabular" /> <output name="ovcfile" file="VINYL_output2_test.vcf" ftype="vcf" /> - <output name="osummary" file="VINYL_output3_test" ftype="tabular" /> + <output name="osummary" file="VINYL_output3_test.tabular" ftype="tabular" /> + <output name="log" file="log.txt" ftype="txt" /> </test> </tests> <help>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/DCM_genes.tabular Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,82 @@ +ABCC9 1 DCM +ACTA1 6 DCM, HCM +ACTC1 6 DCM, HCM +ACTN2 22 DCM, HCM +AKAP9 50 BrS, LQTS, DCM, HCM +ANK2 50 AF, BrS, CPVT, LQTS, DCM +ANKRD1 9 DCM, HCM +BAG3 4 DCM +CACNA1C 52 BrS, HCM, LQTS, DCM +CALR3 9 DCM, HCM +CASQ2 11 BrS, CPVT, DCM, HCM +CHRM2 1 DCM, HCM +CRYAB 3 DCM +CSRP3 5 DCM, HCM +CTF1 3 DCM +DES 9 ARVC, DCM, HCM +DLG1 28 BrS, DCM, HCM +DMD 85 DCM, HCM, ARVC +DOLK 1 DCM +DSC2 17 ARVC, DCM, HCM +DSG2 15 ARVC, BrS, DCM, HCM +DSP 24 ARVC, BrS, DCM, HCM +DTNA 25 DCM, HCM +EMD 6 DCM, HCM +EYA4 21 DCM +FHL1 8 DCM, HCM +FHL2 8 DCM, HCM +FKRP 1 DCM +FKTN 9 DCM +FXN 6 DCM, HCM +GATAD1 5 DCM +GLA 7 DCM, HCM +ILK 12 DCM, HCM +JPH2 5 AF, DCM, HCM +JUP 13 ARVC, BrS, DCM, HCM +KCNH2 15 AF, BrS, DCM, HCM, LQTS +KCNJ2 1 AF, BrS, CPVT, DCM, LQTS +KCNQ1 16 AF, DCM, HCM, LQTS +LAMA4 39 DCM, HCM +LAMP2 11 DCM, HCM +LDB3 16 ARVC, DCM, HCM +LMNA 15 AF, ARVC, DCM, HCM +MURC 2 DCM +MYBPC3 34 DCM, HCM +MYH6 37 DCM, HCM +MYH7 38 DCM, HCM +MYL2 7 DCM, HCM +MYO6 34 HCM, DCM +MYOZ2 5 DCM, HCM +MYPN 21 DCM, HCM +NEBL 32 DCM, HCM +NEXN 12 DCM, HCM +NUP155 35 AF, DCM +OBSCN 106 DCM, HCM, ARVC +PDLIM3 9 DCM, HCM +PKP2 14 ARVC, BrS, DCM, HCM +PLN 1 ARVC, DCM, HCM +PSEN1 10 DCM +PSEN2 10 DCM, HCM +RAF1 16 DCM, HCM +RBM20 14 DCM, HCM +RYR2 105 AF, ARVC, BrS, CPVT, DCM, HCM, LQTS +SCN5A 28 AF, ARVC, BrS, DCM, HCM, LQTS +SDHA 14 DCM +SGCD 8 DCM +SYNE1 146 DCM, HCM, ARVC +TAZ 11 DCM, HCM +TCAP 2 DCM, HCM +TGFB3 7 ARVC, DCM, HCM +TMEM43 12 ARVC, DCM, HCM +TMPO 10 DCM +TNNC1 6 DCM, HCM, ARVC +TNNI3 7 AF, DCM, HCM +TNNT2 16 DCM, HCM +TPM1 14 DCM, HCM +TRPM4 24 BrS, DCM, ARVC +TTN 315 ARVC, DCM, HCM +TTR 4 DCM, HCM +TXNRD2 16 DCM +3K DCM +SGCA DCM +VCL 22 DCM, HCM, ARVC
--- a/test-data/RIS.vcf Tue Jun 09 16:18:24 2020 +0000 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,412 +0,0 @@ -##fileformat=VCFv4.1 -##fileDate=20170629 -##source=freeBayes v0.9.21-26-gbfd9832 -##reference=ucsc.hg19.fasta -##phasing=none -##commandline="/usr/local/bin/freebayes -b DCM_1747.sorted.bam.group.bam -f ucsc.hg19.fasta -t target_cardio.sorted.bed" -##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> -##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth at the locus"> -##INFO=<ID=DPB,Number=1,Type=Float,Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"> -##INFO=<ID=AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> -##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> -##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]"> -##INFO=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> -##INFO=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> -##INFO=<ID=PRO,Number=1,Type=Float,Description="Reference allele observation count, with partial observations recorded fractionally"> -##INFO=<ID=PAO,Number=A,Type=Float,Description="Alternate allele observations, with partial observations recorded fractionally"> -##INFO=<ID=QR,Number=1,Type=Integer,Description="Reference allele quality sum in phred"> -##INFO=<ID=QA,Number=A,Type=Integer,Description="Alternate allele quality sum in phred"> -##INFO=<ID=PQR,Number=1,Type=Float,Description="Reference allele quality sum in phred for partial observations"> -##INFO=<ID=PQA,Number=A,Type=Float,Description="Alternate allele quality sum in phred for partial observations"> -##INFO=<ID=SRF,Number=1,Type=Integer,Description="Number of reference observations on the forward strand"> -##INFO=<ID=SRR,Number=1,Type=Integer,Description="Number of reference observations on the reverse strand"> -##INFO=<ID=SAF,Number=A,Type=Integer,Description="Number of alternate observations on the forward strand"> -##INFO=<ID=SAR,Number=A,Type=Integer,Description="Number of alternate observations on the reverse strand"> -##INFO=<ID=SRP,Number=1,Type=Float,Description="Strand balance probability for the reference allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SRF and SRR given E(SRF/SRR) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=SAP,Number=A,Type=Float,Description="Strand balance probability for the alternate allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SAF and SAR given E(SAF/SAR) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=AB,Number=A,Type=Float,Description="Allele balance at heterozygous sites: a number between 0 and 1 representing the ratio of reads showing the reference allele to all reads, considering only reads from individuals called as heterozygous"> -##INFO=<ID=ABP,Number=A,Type=Float,Description="Allele balance probability at heterozygous sites: Phred-scaled upper-bounds estimate of the probability of observing the deviation between ABR and ABA given E(ABR/ABA) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=RUN,Number=A,Type=Integer,Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"> -##INFO=<ID=RPP,Number=A,Type=Float,Description="Read Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=RPPR,Number=1,Type=Float,Description="Read Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=RPL,Number=A,Type=Float,Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"> -##INFO=<ID=RPR,Number=A,Type=Float,Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"> -##INFO=<ID=EPP,Number=A,Type=Float,Description="End Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=EPPR,Number=1,Type=Float,Description="End Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> -##INFO=<ID=DPRA,Number=A,Type=Float,Description="Alternate allele depth ratio. Ratio between depth in samples with each called alternate allele and those without."> -##INFO=<ID=ODDS,Number=1,Type=Float,Description="The log odds ratio of the best genotype combination to the second-best."> -##INFO=<ID=GTI,Number=1,Type=Integer,Description="Number of genotyping iterations required to reach convergence or bailout."> -##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> -##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF parsing. Note that INDEL alleles do not have the first matched base (which is provided by default, per the spec) referred to by the CIGAR."> -##INFO=<ID=NUMALT,Number=1,Type=Integer,Description="Number of unique non-reference alleles in called genotypes at this position."> -##INFO=<ID=MEANALT,Number=A,Type=Float,Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."> -##INFO=<ID=LEN,Number=A,Type=Integer,Description="allele length"> -##INFO=<ID=MQM,Number=A,Type=Float,Description="Mean mapping quality of observed alternate alleles"> -##INFO=<ID=MQMR,Number=1,Type=Float,Description="Mean mapping quality of observed reference alleles"> -##INFO=<ID=PAIRED,Number=A,Type=Float,Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"> -##INFO=<ID=PAIREDR,Number=1,Type=Float,Description="Proportion of observed reference alleles which are supported by properly paired read fragments"> -##INFO=<ID=technology.Illumina-Nextseq,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from Illumina-Nextseq"> -##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> -##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality, the Phred-scaled marginal (or unconditional) probability of the called genotype"> -##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> -##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> -##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count"> -##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of the reference observations"> -##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observation count"> -##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of the alternate observations"> -##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele"> -##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR"> -##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR"> -##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR"> -##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR"> -##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR"> -##INFO=<ID=cytoBand,Number=.,Type=String,Description="cytoBand annotation provided by ANNOVAR"> -##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> -##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> -##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> -##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> -##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR"> -##INFO=<ID=avsnp147,Number=.,Type=String,Description="avsnp147 annotation provided by ANNOVAR"> -##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR"> -##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR"> -##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_ALL,Number=.,Type=String,Description="ExAC_ALL annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_AFR,Number=.,Type=String,Description="ExAC_AFR annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_AMR,Number=.,Type=String,Description="ExAC_AMR annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_EAS,Number=.,Type=String,Description="ExAC_EAS annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_FIN,Number=.,Type=String,Description="ExAC_FIN annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_NFE,Number=.,Type=String,Description="ExAC_NFE annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_OTH,Number=.,Type=String,Description="ExAC_OTH annotation provided by ANNOVAR"> -##INFO=<ID=ExAC_SAS,Number=.,Type=String,Description="ExAC_SAS annotation provided by ANNOVAR"> -##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR"> -##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR"> -##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR"> -##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR"> -##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR"> -##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR"> -##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR"> -##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR"> -##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR"> -##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR"> -##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR"> -##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR"> -##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR"> -##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR"> -##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR"> -##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR"> -##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR"> -##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR"> -##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR"> -##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR"> -##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR"> -##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR"> -##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR"> -##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR"> -##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR"> -##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR"> -##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR"> -##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR"> -##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR"> -##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR"> -##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR"> -##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR"> -##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR"> -##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR"> -##INFO=<ID=phyloP7way_vertebrate,Number=.,Type=String,Description="phyloP7way_vertebrate annotation provided by ANNOVAR"> -##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR"> -##INFO=<ID=phastCons7way_vertebrate,Number=.,Type=String,Description="phastCons7way_vertebrate annotation provided by ANNOVAR"> -##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR"> -##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR"> -##INFO=<ID=hgmdPRO,Number=.,Type=String,Description="hgmdPRO annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_ALL,Number=.,Type=String,Description="gnomAD_exome_ALL annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_AFR,Number=.,Type=String,Description="gnomAD_exome_AFR annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_AMR,Number=.,Type=String,Description="gnomAD_exome_AMR annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_ASJ,Number=.,Type=String,Description="gnomAD_exome_ASJ annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_EAS,Number=.,Type=String,Description="gnomAD_exome_EAS annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_FIN,Number=.,Type=String,Description="gnomAD_exome_FIN annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_NFE,Number=.,Type=String,Description="gnomAD_exome_NFE annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_OTH,Number=.,Type=String,Description="gnomAD_exome_OTH annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_exome_SAS,Number=.,Type=String,Description="gnomAD_exome_SAS annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_ALL,Number=.,Type=String,Description="gnomAD_genome_ALL annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_AFR,Number=.,Type=String,Description="gnomAD_genome_AFR annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_AMR,Number=.,Type=String,Description="gnomAD_genome_AMR annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_ASJ,Number=.,Type=String,Description="gnomAD_genome_ASJ annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_EAS,Number=.,Type=String,Description="gnomAD_genome_EAS annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_FIN,Number=.,Type=String,Description="gnomAD_genome_FIN annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_NFE,Number=.,Type=String,Description="gnomAD_genome_NFE annotation provided by ANNOVAR"> -##INFO=<ID=gnomAD_genome_OTH,Number=.,Type=String,Description="gnomAD_genome_OTH annotation provided by ANNOVAR"> -##INFO=<ID=Heart_Atrial_Appendage,Number=.,Type=String,Description="Heart_Atrial_Appendage annotation provided by ANNOVAR"> -##INFO=<ID=Heart_Left_Ventricle,Number=.,Type=String,Description="Heart_Left_Ventricle annotation provided by ANNOVAR"> -##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele"> -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT DCM_1747 -chr1 3322139 . C T 10208.6 . AB=0.454432;ABP=31.9036;AC=1;AF=0.5;AN=2;AO=728;CIGAR=1X;DP=1602;DPB=1602;DPRA=0;EPP=24.0569;EPPR=3.0533;GTI=0;LEN=1;MEANALT=3;MQM=33.7005;MQMR=34.1139;NS=1;NUMALT=1;ODDS=2350.63;PAIRED=0.866758;PAIREDR=0.866337;PAO=0;PQA=0;PQR=0;PRO=0;QA=19297;QR=24639;RO=808;RPL=420;RPP=40.4264;RPPR=25.757;RPR=308;RUN=1;SAF=332;SAP=15.2278;SAR=396;SRF=396;SRP=3.69829;SRR=412;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon8:c.C1113T:p.C371C,PRDM16:NM_199454:exon8:c.C1113T:p.C371C;cytoBand=1p36.32;esp6500siv2_all=0.0284;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0284;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0277556;avsnp147=rs61745281;Kaviar_AF=0.0078977;Kaviar_AC=1221;Kaviar_AN=154602;ExAC_ALL=0.0081;ExAC_AFR=0.0847;ExAC_AMR=0.0059;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0057;ExAC_SAS=6.179e-05;CLNALLELEID=228429;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0834;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0069;gnomAD_exome_SAS=6.539e-05;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0846;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1602:808:24639:728:19297:-1037.13,0,-1450.74 -chr1 3328358 . T C 8722.72 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=477;CIGAR=1X;DP=490;DPB=490;DPRA=0;EPP=205.686;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=25.6101;MQMR=6.75;NS=1;NUMALT=1;ODDS=653.012;PAIRED=0.836478;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14027;QR=69;RO=4;RPL=280;RPP=34.3715;RPPR=11.6962;RPR=197;RUN=1;SAF=266;SAP=16.7812;SAR=211;SRF=4;SRP=11.6962;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;cytoBand=1p36.32;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;1000g2015aug_all=0.945088;avsnp147=rs870124;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;ExAC_ALL=0.8897;ExAC_AFR=0.9721;ExAC_AMR=0.9243;ExAC_EAS=0.9998;ExAC_FIN=0.9099;ExAC_NFE=0.8404;ExAC_OTH=0.8873;ExAC_SAS=0.9508;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.656;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;PROVEAN_score=1.41;PROVEAN_pred=N;VEST3_score=0.028;CADD_raw=-0.543;CADD_phred=0.172;DANN_score=0.663;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.058;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.826;SiPhy_29way_logOdds=14.274;hgmdPRO=.;gnomAD_exome_ALL=0.8901;gnomAD_exome_AFR=0.9726;gnomAD_exome_AMR=0.9239;gnomAD_exome_ASJ=0.8534;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9133;gnomAD_exome_NFE=0.8350;gnomAD_exome_OTH=0.8740;gnomAD_exome_SAS=0.9500;gnomAD_genome_ALL=0.9008;gnomAD_genome_AFR=0.9696;gnomAD_genome_AMR=0.9332;gnomAD_genome_ASJ=0.86;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9196;gnomAD_genome_NFE=0.8459;gnomAD_genome_OTH=0.8794;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:490:4:69:477:14027:-898.434,-142.534,0 -chr1 3328659 . C T 3557.2 . AB=0.407742;ABP=60.3064;AC=1;AF=0.5;AN=2;AO=316;CIGAR=1X;DP=775;DPB=775;DPRA=0;EPP=31.157;EPPR=7.89738;GTI=0;LEN=1;MEANALT=3;MQM=28.1234;MQMR=30.0773;NS=1;NUMALT=1;ODDS=819.075;PAIRED=0.863924;PAIREDR=0.908665;PAO=0;PQA=0;PQR=0;PRO=0;QA=8551;QR=13362;RO=427;RPL=121;RPP=40.64;RPPR=38.0437;RPR=195;RUN=1;SAF=183;SAP=20.1897;SAR=133;SRF=233;SRP=10.7452;SRR=194;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;cytoBand=1p36.32;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;1000g2015aug_all=0.10603;avsnp147=rs2493292;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;ExAC_ALL=0.1310;ExAC_AFR=0.1698;ExAC_AMR=0.0737;ExAC_EAS=0.0108;ExAC_FIN=0.0971;ExAC_NFE=0.1636;ExAC_OTH=0.1594;ExAC_SAS=0.0839;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.075;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=3.424;CADD_phred=23.0;DANN_score=0.997;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.906;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.18;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.028;phastCons7way_vertebrate=0.912;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=14.960;hgmdPRO=.;gnomAD_exome_ALL=0.1231;gnomAD_exome_AFR=0.1639;gnomAD_exome_AMR=0.0803;gnomAD_exome_ASJ=0.2228;gnomAD_exome_EAS=0.0107;gnomAD_exome_FIN=0.0990;gnomAD_exome_NFE=0.1563;gnomAD_exome_OTH=0.1523;gnomAD_exome_SAS=0.0762;gnomAD_genome_ALL=0.1349;gnomAD_genome_AFR=0.1632;gnomAD_genome_AMR=0.1026;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0.1024;gnomAD_genome_NFE=0.1406;gnomAD_genome_OTH=0.1283;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:775:427:13362:316:8551:-375.239,0,-712.61 -chr1 3329384 . C T 3624.61 . AB=0.451937;ABP=16.9956;AC=1;AF=0.5;AN=2;AO=315;CIGAR=1X;DP=697;DPB=697;DPRA=0;EPP=14.5984;EPPR=3.01652;GTI=0;LEN=1;MEANALT=3;MQM=30.0921;MQMR=32.1232;NS=1;NUMALT=1;ODDS=834.596;PAIRED=0.777778;PAIREDR=0.759312;PAO=0;PQA=0;PQR=0;PRO=0;QA=8013;QR=10609;RO=349;RPL=222;RPP=117.726;RPPR=54.5345;RPR=93;RUN=1;SAF=138;SAP=13.4954;SAR=177;SRF=154;SRP=13.4695;SRR=195;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;1000g2015aug_all=0.107029;avsnp147=rs2493291;Kaviar_AF=0.0647469;Kaviar_AC=10010;Kaviar_AN=154602;ExAC_ALL=0.2155;ExAC_AFR=0.2521;ExAC_AMR=0.1463;ExAC_EAS=0.0245;ExAC_FIN=0.2381;ExAC_NFE=0.2361;ExAC_OTH=0.3077;ExAC_SAS=0.1181;CLNALLELEID=365234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1129;gnomAD_exome_AFR=0.1652;gnomAD_exome_AMR=0.0980;gnomAD_exome_ASJ=0.2175;gnomAD_exome_EAS=0.0103;gnomAD_exome_FIN=0.1001;gnomAD_exome_NFE=0.1476;gnomAD_exome_OTH=0.1440;gnomAD_exome_SAS=0.0714;gnomAD_genome_ALL=0.1344;gnomAD_genome_AFR=0.1645;gnomAD_genome_AMR=0.0993;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.0129;gnomAD_genome_FIN=0.1022;gnomAD_genome_NFE=0.1392;gnomAD_genome_OTH=0.1235;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:697:349:10609:315:8013:-384.373,0,-572.906 -chr1 3342804 . G T 10615.9 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=708;CIGAR=1X;DP=1416;DPB=1416;DPRA=0;EPP=8.94811;EPPR=8.29285;GTI=0;LEN=1;MEANALT=3;MQM=33.8828;MQMR=33.6093;NS=1;NUMALT=1;ODDS=2444.4;PAIRED=0.951977;PAIREDR=0.95369;PAO=0;PQA=0;PQR=0;PRO=0;QA=19521;QR=20242;RO=691;RPL=467;RPP=159.663;RPPR=58.5981;RPR=241;RUN=1;SAF=211;SAP=253.883;SAR=497;SRF=149;SRP=488.367;SRR=542;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;1000g2015aug_all=0.379393;avsnp147=rs870171;Kaviar_AF=0.292745;Kaviar_AC=45259;Kaviar_AN=154602;ExAC_ALL=0.2980;ExAC_AFR=0.4221;ExAC_AMR=0.2738;ExAC_EAS=0.4897;ExAC_FIN=0.2227;ExAC_NFE=0.2679;ExAC_OTH=0.3011;ExAC_SAS=0.2917;CLNALLELEID=228464;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2942;gnomAD_exome_AFR=0.4202;gnomAD_exome_AMR=0.2794;gnomAD_exome_ASJ=0.2749;gnomAD_exome_EAS=0.4962;gnomAD_exome_FIN=0.2319;gnomAD_exome_NFE=0.2693;gnomAD_exome_OTH=0.2882;gnomAD_exome_SAS=0.2755;gnomAD_genome_ALL=0.3182;gnomAD_genome_AFR=0.4240;gnomAD_genome_AMR=0.3126;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.5156;gnomAD_genome_FIN=0.2263;gnomAD_genome_NFE=0.2621;gnomAD_genome_OTH=0.2577;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1416:691:20242:708:19521:-1112.17,0,-1140.88 -chr1 26392824 . C A 6917.7 . AB=0.445783;ABP=30.5592;AC=1;AF=0.5;AN=2;AO=481;CIGAR=1X;DP=1079;DPB=1079;DPRA=0;EPP=23.2759;EPPR=4.96721;GTI=0;LEN=1;MEANALT=3;MQM=34.6195;MQMR=33.5264;NS=1;NUMALT=1;ODDS=1592.86;PAIRED=0.91684;PAIREDR=0.873935;PAO=0;PQA=0;PQR=0;PRO=0;QA=12930;QR=17762;RO=587;RPL=277;RPP=27.068;RPPR=143.675;RPR=204;RUN=1;SAF=244;SAP=3.23151;SAR=237;SRF=243;SRP=40.7466;SRR=344;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;cytoBand=1p36.11;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;1000g2015aug_all=0.0183706;avsnp147=rs35123100;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;ExAC_ALL=0.0529;ExAC_AFR=0.0135;ExAC_AMR=0.0286;ExAC_EAS=0;ExAC_FIN=0.0604;ExAC_NFE=0.0801;ExAC_OTH=0.0509;ExAC_SAS=0.0102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0545;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0541;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0655;gnomAD_exome_NFE=0.0864;gnomAD_exome_OTH=0.0498;gnomAD_exome_SAS=0.0105;gnomAD_genome_ALL=0.0659;gnomAD_genome_AFR=0.0140;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0698;gnomAD_genome_NFE=0.1033;gnomAD_genome_OTH=0.0825;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0919118::-0.648815;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1079:587:17762:481:12930:-706.447,0,-1025.78 -chr1 74819077 . T G 23990.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=955;CIGAR=1X;DP=971;DPB=971;DPRA=0;EPP=180.005;EPPR=4.78696;GTI=0;LEN=1;MEANALT=3;MQM=38.2932;MQMR=28.4545;NS=1;NUMALT=1;ODDS=1260.58;PAIRED=0.972775;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=29810;QR=185;RO=11;RPL=687;RPP=402.2;RPPR=7.94546;RPR=268;RUN=1;SAF=368;SAP=112.064;SAR=587;SRF=4;SRP=4.78696;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;1000g2015aug_all=0.939097;avsnp147=rs6424586;Kaviar_AF=0.924555;Kaviar_AC=142938;Kaviar_AN=154602;ExAC_ALL=0.9429;ExAC_AFR=0.8883;ExAC_AMR=0.9297;ExAC_EAS=0.9981;ExAC_FIN=0.9186;ExAC_NFE=0.9439;ExAC_OTH=0.9364;ExAC_SAS=0.9637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9439;gnomAD_exome_AFR=0.8869;gnomAD_exome_AMR=0.9313;gnomAD_exome_ASJ=0.9684;gnomAD_exome_EAS=0.9980;gnomAD_exome_FIN=0.9262;gnomAD_exome_NFE=0.9427;gnomAD_exome_OTH=0.9471;gnomAD_exome_SAS=0.9648;gnomAD_genome_ALL=0.9271;gnomAD_genome_AFR=0.8820;gnomAD_genome_AMR=0.9351;gnomAD_genome_ASJ=0.9801;gnomAD_genome_EAS=0.9988;gnomAD_genome_FIN=0.9337;gnomAD_genome_NFE=0.9419;gnomAD_genome_OTH=0.9395;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:971:11:185:955:29810:-2471.33,-277.197,0 -chr1 75006027 . A G 10520.7 . AB=0.475548;ABP=9.16952;AC=1;AF=0.5;AN=2;AO=564;CIGAR=1X;DP=1186;DPB=1186;DPRA=0;EPP=8.00007;EPPR=3.04293;GTI=0;LEN=1;MEANALT=3;MQM=40.1968;MQMR=40.389;NS=1;NUMALT=1;ODDS=2422.48;PAIRED=0.985816;PAIREDR=0.983306;PAO=0;PQA=0;PQR=0;PRO=0;QA=16504;QR=18701;RO=599;RPL=362;RPP=101.574;RPPR=54.3462;RPR=202;RUN=1;SAF=374;SAP=133.36;SAR=190;SRF=395;SRP=135.26;SRR=204;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;1000g2015aug_all=0.324481;avsnp147=rs3895907;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;ExAC_ALL=0.4555;ExAC_AFR=0.2186;ExAC_AMR=0.3397;ExAC_EAS=0.1557;ExAC_FIN=0.4781;ExAC_NFE=0.5609;ExAC_OTH=0.4487;ExAC_SAS=0.4036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4556;gnomAD_exome_AFR=0.2063;gnomAD_exome_AMR=0.3525;gnomAD_exome_ASJ=0.5908;gnomAD_exome_EAS=0.1568;gnomAD_exome_FIN=0.4829;gnomAD_exome_NFE=0.5610;gnomAD_exome_OTH=0.4848;gnomAD_exome_SAS=0.4050;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.2194;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.5629;gnomAD_genome_EAS=0.1785;gnomAD_genome_FIN=0.4808;gnomAD_genome_NFE=0.5629;gnomAD_genome_OTH=0.5071;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1186:599:18701:564:16504:-1084.08,0,-1261.69 -chr1 78392446 . G A 4475.32 . AB=0.507592;ABP=3.24111;AC=1;AF=0.5;AN=2;AO=234;CIGAR=1X;DP=461;DPB=461;DPRA=0;EPP=24.391;EPPR=4.71718;GTI=0;LEN=1;MEANALT=3;MQM=39.765;MQMR=40.4791;NS=1;NUMALT=1;ODDS=892.543;PAIRED=0.982906;PAIREDR=0.981395;PAO=0;PQA=0;PQR=0;PRO=0;QA=6886;QR=6105;RO=215;RPL=124;RPP=4.82914;RPPR=4.23238;RPR=110;RUN=1;SAF=129;SAP=8.35546;SAR=105;SRF=112;SRP=3.82839;SRR=103;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;cytoBand=1p31.1;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;1000g2015aug_all=0.150759;avsnp147=rs1166698;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.0366;ExAC_AMR=0.1428;ExAC_EAS=0.3947;ExAC_FIN=0.1704;ExAC_NFE=0.2142;ExAC_OTH=0.1737;ExAC_SAS=0.0781;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.63;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_pred=N;VEST3_score=0.422;CADD_raw=5.664;CADD_phred=26.7;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.291;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=19.694;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.0340;gnomAD_exome_AMR=0.1407;gnomAD_exome_ASJ=0.2171;gnomAD_exome_EAS=0.3942;gnomAD_exome_FIN=0.1628;gnomAD_exome_NFE=0.2106;gnomAD_exome_OTH=0.1837;gnomAD_exome_SAS=0.0771;gnomAD_genome_ALL=0.1653;gnomAD_genome_AFR=0.0400;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.2053;gnomAD_genome_EAS=0.3964;gnomAD_genome_FIN=0.1734;gnomAD_genome_NFE=0.2107;gnomAD_genome_OTH=0.1616;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:461:215:6105:234:6886:-457.839,0,-395.393 -chr1 116243877 . G A 27830.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1154;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=43.1204;EPPR=5.8675;GTI=0;LEN=1;MEANALT=3;MQM=38.3354;MQMR=39;NS=1;NUMALT=1;ODDS=1427.2;PAIRED=0.94974;PAIREDR=0.842105;PAO=0;PQA=0;PQR=0;PRO=0;QA=34925;QR=593;RO=19;RPL=311;RPP=535.574;RPPR=12.2676;RPR=843;RUN=1;SAF=827;SAP=473.433;SAR=327;SRF=12;SRP=5.8675;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;cytoBand=1p13.1;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;1000g2015aug_all=0.425719;avsnp147=rs7413162;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.4558;ExAC_AMR=0.4505;ExAC_EAS=0.3005;ExAC_FIN=0.4079;ExAC_NFE=0.3619;ExAC_OTH=0.3943;ExAC_SAS=0.4128;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.4508;gnomAD_exome_AMR=0.4390;gnomAD_exome_ASJ=0.4048;gnomAD_exome_EAS=0.2922;gnomAD_exome_FIN=0.3947;gnomAD_exome_NFE=0.3548;gnomAD_exome_OTH=0.4042;gnomAD_exome_SAS=0.4085;gnomAD_genome_ALL=0.3862;gnomAD_genome_AFR=0.4462;gnomAD_genome_AMR=0.4400;gnomAD_genome_ASJ=0.3867;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.3959;gnomAD_genome_NFE=0.3609;gnomAD_genome_OTH=0.3822;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:19:593:1154:34925:-2892.13,-302.196,0 -chr1 116245655 . G C 22223.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=933;CIGAR=1X;DP=962;DPB=962;DPRA=0;EPP=32.729;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=37.7621;MQMR=27.75;NS=1;NUMALT=1;ODDS=1211.9;PAIRED=0.943194;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27148;QR=283;RO=12;RPL=647;RPP=306.321;RPPR=5.9056;RPR=286;RUN=1;SAF=425;SAP=19.0438;SAR=508;SRF=4;SRP=5.9056;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;1000g2015aug_all=0.216054;avsnp147=rs12402684;Kaviar_AF=0.196233;Kaviar_AC=30338;Kaviar_AN=154602;ExAC_ALL=0.2328;ExAC_AFR=0.1534;ExAC_AMR=0.2942;ExAC_EAS=0.1705;ExAC_FIN=0.2458;ExAC_NFE=0.2308;ExAC_OTH=0.2211;ExAC_SAS=0.2812;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2167;gnomAD_exome_AFR=0.1432;gnomAD_exome_AMR=0.2479;gnomAD_exome_ASJ=0.2079;gnomAD_exome_EAS=0.1460;gnomAD_exome_FIN=0.2163;gnomAD_exome_NFE=0.2144;gnomAD_exome_OTH=0.2413;gnomAD_exome_SAS=0.2629;gnomAD_genome_ALL=0.1927;gnomAD_genome_AFR=0.1409;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.1278;gnomAD_genome_FIN=0.2112;gnomAD_genome_NFE=0.2207;gnomAD_genome_OTH=0.2138;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:962:12:283:933:27148:-2260.02,-264.088,0 -chr1 116260532 . A T 37075.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1599;CIGAR=1X;DP=1677;DPB=1677;DPRA=0;EPP=289.119;EPPR=36.0317;GTI=0;LEN=1;MEANALT=3;MQM=36.9287;MQMR=35.9655;NS=1;NUMALT=1;ODDS=2009.78;PAIRED=0.969981;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=46064;QR=629;RO=29;RPL=711;RPP=45.5557;RPPR=9.07545;RPR=888;RUN=1;SAF=633;SAP=153.6;SAR=966;SRF=17;SRP=4.88226;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;1000g2015aug_all=0.642772;avsnp147=rs2997741;Kaviar_AF=0.573414;Kaviar_AC=88651;Kaviar_AN=154602;ExAC_ALL=0.5802;ExAC_AFR=0.6901;ExAC_AMR=0.6426;ExAC_EAS=0.6451;ExAC_FIN=0.5576;ExAC_NFE=0.5441;ExAC_OTH=0.5716;ExAC_SAS=0.5885;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5799;gnomAD_exome_AFR=0.6970;gnomAD_exome_AMR=0.6256;gnomAD_exome_ASJ=0.5373;gnomAD_exome_EAS=0.6413;gnomAD_exome_FIN=0.5538;gnomAD_exome_NFE=0.5478;gnomAD_exome_OTH=0.5909;gnomAD_exome_SAS=0.5843;gnomAD_genome_ALL=0.5863;gnomAD_genome_AFR=0.6866;gnomAD_genome_AMR=0.6283;gnomAD_genome_ASJ=0.5199;gnomAD_genome_EAS=0.6180;gnomAD_genome_FIN=0.5472;gnomAD_genome_NFE=0.5345;gnomAD_genome_OTH=0.5544;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1677:29:629:1599:46064:-3754.26,-436.046,0 -chr1 116260544 . C T 35869.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1576;CIGAR=1X;DP=1651;DPB=1651;DPRA=0;EPP=304.79;EPPR=32.0437;GTI=0;LEN=1;MEANALT=3;MQM=36.8458;MQMR=39.6296;NS=1;NUMALT=1;ODDS=1972.57;PAIRED=0.971447;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=44589;QR=681;RO=27;RPL=775;RPP=3.94172;RPPR=6.95112;RPR=801;RUN=1;SAF=575;SAP=253.055;SAR=1001;SRF=6;SRP=21.1059;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;1000g2015aug_all=0.250799;avsnp147=rs3811001;Kaviar_AF=0.231912;Kaviar_AC=35854;Kaviar_AN=154602;ExAC_ALL=0.2359;ExAC_AFR=0.2206;ExAC_AMR=0.2716;ExAC_EAS=0.1573;ExAC_FIN=0.2352;ExAC_NFE=0.2315;ExAC_OTH=0.2362;ExAC_SAS=0.2797;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2363;gnomAD_exome_AFR=0.2195;gnomAD_exome_AMR=0.2651;gnomAD_exome_ASJ=0.2091;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.2325;gnomAD_exome_NFE=0.2347;gnomAD_exome_OTH=0.2600;gnomAD_exome_SAS=0.2725;gnomAD_genome_ALL=0.2229;gnomAD_genome_AFR=0.2062;gnomAD_genome_AMR=0.2734;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1395;gnomAD_genome_FIN=0.2258;gnomAD_genome_NFE=0.2379;gnomAD_genome_OTH=0.2311;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1651:27:681:1576:44589:-3640.28,-422.785,0 -chr1 116283343 . A G 26681.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1057;CIGAR=1X;DP=1078;DPB=1078;DPRA=0;EPP=172.227;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=38.5279;MQMR=30;NS=1;NUMALT=1;ODDS=1442.96;PAIRED=0.953642;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=33039;QR=82;RO=3;RPL=267;RPP=564.941;RPPR=3.73412;RPR=790;RUN=1;SAF=657;SAP=138.7;SAR=400;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;1000g2015aug_all=0.64357;avsnp147=rs9428083;Kaviar_AF=0.785559;Kaviar_AC=121449;Kaviar_AN=154602;ExAC_ALL=0.7872;ExAC_AFR=0.3602;ExAC_AMR=0.7652;ExAC_EAS=0.7627;ExAC_FIN=0.8160;ExAC_NFE=0.8689;ExAC_OTH=0.7991;ExAC_SAS=0.7403;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7965;gnomAD_exome_AFR=0.3495;gnomAD_exome_AMR=0.7742;gnomAD_exome_ASJ=0.8469;gnomAD_exome_EAS=0.7659;gnomAD_exome_FIN=0.8132;gnomAD_exome_NFE=0.8748;gnomAD_exome_OTH=0.8062;gnomAD_exome_SAS=0.7465;gnomAD_genome_ALL=0.7101;gnomAD_genome_AFR=0.3715;gnomAD_genome_AMR=0.7763;gnomAD_genome_ASJ=0.8411;gnomAD_genome_EAS=0.8102;gnomAD_genome_FIN=0.8188;gnomAD_genome_NFE=0.8575;gnomAD_genome_OTH=0.8075;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1078:3:82:1057:33039:-2761.18,-312.597,0 -chr1 162313735 . C T 31848 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1455;CIGAR=1X;DP=1577;DPB=1577;DPRA=0;EPP=15.369;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=37.4997;MQMR=34.325;NS=1;NUMALT=1;ODDS=1723.12;PAIRED=0.908591;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=39515;QR=989;RO=40;RPL=810;RPP=43.6415;RPPR=3.22745;RPR=645;RUN=1;SAF=596;SAP=106.24;SAR=859;SRF=21;SRP=3.22745;SRR=19;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;cytoBand=1q23.3;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;1000g2015aug_all=0.430911;avsnp147=rs3751284;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;ExAC_ALL=0.4072;ExAC_AFR=0.2887;ExAC_AMR=0.4933;ExAC_EAS=0.6054;ExAC_FIN=0.4665;ExAC_NFE=0.3647;ExAC_OTH=0.4339;ExAC_SAS=0.4646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4127;gnomAD_exome_AFR=0.2842;gnomAD_exome_AMR=0.4850;gnomAD_exome_ASJ=0.3893;gnomAD_exome_EAS=0.5968;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.3580;gnomAD_exome_OTH=0.3949;gnomAD_exome_SAS=0.4626;gnomAD_genome_ALL=0.3718;gnomAD_genome_AFR=0.2970;gnomAD_genome_AMR=0.4414;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.6063;gnomAD_genome_FIN=0.4627;gnomAD_genome_NFE=0.3632;gnomAD_genome_OTH=0.4020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1577:40:989:1455:39515:-3200.56,-370.19,0 -chr1 201328824 . G A 8133.51 . AB=0.431146;ABP=60.1246;AC=1;AF=0.5;AN=2;AO=598;CIGAR=1X;DP=1387;DPB=1387;DPRA=0;EPP=3.2427;EPPR=3.05896;GTI=0;LEN=1;MEANALT=3;MQM=32.689;MQMR=33.8529;NS=1;NUMALT=1;ODDS=1872.81;PAIRED=0.879599;PAIREDR=0.90056;PAO=0;PQA=0;PQR=0;PRO=0;QA=16631;QR=20714;RO=714;RPL=456;RPP=361.035;RPPR=334.205;RPR=142;RUN=1;SAF=229;SAP=74.1823;SAR=369;SRF=275;SRP=84.8085;SRR=439;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;1000g2015aug_all=0.277157;avsnp147=rs2275863;Kaviar_AF=0.132896;Kaviar_AC=20546;Kaviar_AN=154602;ExAC_ALL=0.2084;ExAC_AFR=0.5048;ExAC_AMR=0.1369;ExAC_EAS=0.3233;ExAC_FIN=0.2040;ExAC_NFE=0.1326;ExAC_OTH=0.1676;ExAC_SAS=0.2180;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1539;gnomAD_exome_AFR=0.4877;gnomAD_exome_AMR=0.0994;gnomAD_exome_ASJ=0.1377;gnomAD_exome_EAS=0.2712;gnomAD_exome_FIN=0.1335;gnomAD_exome_NFE=0.0985;gnomAD_exome_OTH=0.1518;gnomAD_exome_SAS=0.2044;gnomAD_genome_ALL=0.2177;gnomAD_genome_AFR=0.4689;gnomAD_genome_AMR=0.1184;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.2744;gnomAD_genome_FIN=0.1269;gnomAD_genome_NFE=0.0993;gnomAD_genome_OTH=0.1395;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1387:714:20714:598:16631:-868.483,0,-1219.48 -chr1 201334382 . G A 13720.1 . AB=0.462648;ABP=26.5318;AC=1;AF=0.5;AN=2;AO=898;CIGAR=1X;DP=1941;DPB=1941;DPRA=0;EPP=81.3574;EPPR=132.35;GTI=0;LEN=1;MEANALT=3;MQM=34.6425;MQMR=35.4275;NS=1;NUMALT=1;ODDS=3159.18;PAIRED=0.955457;PAIREDR=0.919708;PAO=0;PQA=0;PQR=0;PRO=0;QA=24290;QR=27153;RO=959;RPL=495;RPP=23.4773;RPPR=7.59553;RPR=403;RUN=1;SAF=378;SAP=51.7693;SAR=520;SRF=404;SRP=54.6388;SRR=555;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;cytoBand=1q32.1;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;1000g2015aug_all=0.695088;avsnp147=rs3729547;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;ExAC_ALL=0.7194;ExAC_AFR=0.6243;ExAC_AMR=0.7690;ExAC_EAS=0.5480;ExAC_FIN=0.7971;ExAC_NFE=0.7147;ExAC_OTH=0.7775;ExAC_SAS=0.8187;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7237;gnomAD_exome_AFR=0.6147;gnomAD_exome_AMR=0.7649;gnomAD_exome_ASJ=0.7724;gnomAD_exome_EAS=0.5437;gnomAD_exome_FIN=0.7888;gnomAD_exome_NFE=0.7096;gnomAD_exome_OTH=0.7523;gnomAD_exome_SAS=0.8175;gnomAD_genome_ALL=0.6921;gnomAD_genome_AFR=0.6157;gnomAD_genome_AMR=0.7685;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5336;gnomAD_genome_FIN=0.7944;gnomAD_genome_NFE=0.7202;gnomAD_genome_OTH=0.7454;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1941:959:27153:898:24290:-1395.72,0,-1625.39 -chr1 201338553 . T C 4879.89 . AB=0.51462;ABP=4.28017;AC=1;AF=0.5;AN=2;AO=352;CIGAR=1X;DP=684;DPB=684;DPRA=0;EPP=9.32731;EPPR=25.1271;GTI=0;LEN=1;MEANALT=3;MQM=30.1165;MQMR=33.596;NS=1;NUMALT=1;ODDS=835.261;PAIRED=0.778409;PAIREDR=0.858586;PAO=0;PQA=0;PQR=0;PRO=0;QA=10314;QR=7827;RO=297;RPL=288;RPP=312.544;RPPR=292.547;RPR=64;RUN=1;SAF=132;SAP=50.7827;SAR=220;SRF=108;SRP=50.9801;SRR=189;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;1000g2015aug_all=0.734625;avsnp147=rs10800776;Kaviar_AF=0.0237821;Kaviar_AC=619;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7297;gnomAD_genome_AFR=0.7452;gnomAD_genome_AMR=0.7733;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5311;gnomAD_genome_FIN=0.7950;gnomAD_genome_NFE=0.7224;gnomAD_genome_OTH=0.7464;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:684:297:7827:352:10314:-535.432,0,-409.84 -chr1 201341341 . C T 4245.54 . AB=0.487379;ABP=3.72288;AC=1;AF=0.5;AN=2;AO=251;CIGAR=1X;DP=515;DPB=515;DPRA=0;EPP=77.8353;EPPR=23.0226;GTI=0;LEN=1;MEANALT=3;MQM=37.7968;MQMR=37.02;NS=1;NUMALT=1;ODDS=977.571;PAIRED=0.964143;PAIREDR=0.944;PAO=0;PQA=0;PQR=0;PRO=0;QA=7154;QR=7822;RO=250;RPL=89;RPP=49.113;RPPR=40.846;RPR=162;RUN=1;SAF=86;SAP=57.003;SAR=165;SRF=95;SRP=34.2795;SRR=155;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;1000g2015aug_all=0.771765;avsnp147=rs868407;Kaviar_AF=0.141499;Kaviar_AC=21876;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7375;gnomAD_genome_AFR=0.7212;gnomAD_genome_AMR=0.7947;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.7329;gnomAD_genome_FIN=0.8074;gnomAD_genome_NFE=0.7258;gnomAD_genome_OTH=0.7617;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:515:250:7822:251:7154:-449.657,0,-492.134 -chr1 227069677 . T C 6148.62 . AB=0.506596;ABP=3.29677;AC=1;AF=0.5;AN=2;AO=384;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=17.1475;EPPR=3.50857;GTI=0;LEN=1;MEANALT=3;MQM=33.1745;MQMR=35.3484;NS=1;NUMALT=1;ODDS=1174.02;PAIRED=0.882812;PAIREDR=0.88102;PAO=0;PQA=0;PQR=0;PRO=0;QA=11115;QR=9422;RO=353;RPL=250;RPP=79.1023;RPPR=118.467;RPR=134;RUN=1;SAF=151;SAP=41.0337;SAR=233;SRF=150;SRP=20.2898;SRR=203;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;cytoBand=1q42.13;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;1000g2015aug_all=0.735623;avsnp147=rs11405;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;ExAC_ALL=0.7603;ExAC_AFR=0.8168;ExAC_AMR=0.7404;ExAC_EAS=0.5626;ExAC_FIN=0.7863;ExAC_NFE=0.7801;ExAC_OTH=0.7841;ExAC_SAS=0.7508;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7569;gnomAD_exome_AFR=0.8162;gnomAD_exome_AMR=0.7408;gnomAD_exome_ASJ=0.7548;gnomAD_exome_EAS=0.5550;gnomAD_exome_FIN=0.7870;gnomAD_exome_NFE=0.7788;gnomAD_exome_OTH=0.7744;gnomAD_exome_SAS=0.7546;gnomAD_genome_ALL=0.7693;gnomAD_genome_AFR=0.8193;gnomAD_genome_AMR=0.7536;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5455;gnomAD_genome_FIN=0.7845;gnomAD_genome_NFE=0.7619;gnomAD_genome_OTH=0.7643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:758:353:9422:384:11115:-635.793,0,-531.402 -chr1 227069737 . C T 2721.69 . AB=0.478261;ABP=4.89854;AC=1;AF=0.5;AN=2;AO=220;CIGAR=1X;DP=460;DPB=460;DPRA=0;EPP=3.642;EPPR=3.16403;GTI=0;LEN=1;MEANALT=3;MQM=33.0955;MQMR=35.469;NS=1;NUMALT=1;ODDS=626.692;PAIRED=0.904545;PAIREDR=0.920354;PAO=0;PQA=0;PQR=0;PRO=0;QA=5769;QR=6507;RO=226;RPL=194;RPP=281.59;RPPR=267.776;RPR=26;RUN=1;SAF=80;SAP=38.5435;SAR=140;SRF=85;SRP=33.1419;SRR=141;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;cytoBand=1q42.13;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;1000g2015aug_all=0.443291;avsnp147=rs6759;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;ExAC_ALL=0.4995;ExAC_AFR=0.3905;ExAC_AMR=0.5145;ExAC_EAS=0.4064;ExAC_FIN=0.5332;ExAC_NFE=0.5425;ExAC_OTH=0.5434;ExAC_SAS=0.4169;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5025;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5185;gnomAD_exome_ASJ=0.6122;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5361;gnomAD_exome_NFE=0.5342;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.4195;gnomAD_genome_ALL=0.4770;gnomAD_genome_AFR=0.3866;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3888;gnomAD_genome_FIN=0.5358;gnomAD_genome_NFE=0.5173;gnomAD_genome_OTH=0.5072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:460:226:6507:220:5769:-314.391,0,-382.785 -chr1 227071525 . C T 13865.6 . AB=0.499373;ABP=3.01575;AC=1;AF=0.5;AN=2;AO=796;CIGAR=1X;DP=1594;DPB=1594;DPRA=0;EPP=23.1864;EPPR=9.89763;GTI=0;LEN=1;MEANALT=3;MQM=35.6168;MQMR=37.0674;NS=1;NUMALT=1;ODDS=3192.66;PAIRED=0.834171;PAIREDR=0.821664;PAO=0;PQA=0;PQR=0;PRO=0;QA=23792;QR=24057;RO=757;RPL=535;RPP=207.816;RPPR=198.417;RPR=261;RUN=1;SAF=296;SAP=116.538;SAR=500;SRF=266;SRP=148.229;SRR=491;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;cytoBand=1q42.13;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;1000g2015aug_all=0.443291;avsnp147=rs1046240;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;ExAC_ALL=0.4991;ExAC_AFR=0.3877;ExAC_AMR=0.5158;ExAC_EAS=0.4064;ExAC_FIN=0.5331;ExAC_NFE=0.5418;ExAC_OTH=0.5452;ExAC_SAS=0.4170;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5030;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5193;gnomAD_exome_ASJ=0.6124;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5363;gnomAD_exome_NFE=0.5348;gnomAD_exome_OTH=0.5458;gnomAD_exome_SAS=0.4194;gnomAD_genome_ALL=0.4774;gnomAD_genome_AFR=0.3867;gnomAD_genome_AMR=0.5383;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3856;gnomAD_genome_FIN=0.5367;gnomAD_genome_NFE=0.5179;gnomAD_genome_OTH=0.5072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1594:757:24057:796:23792:-1429.47,0,-1480.93 -chr1 227078955 . T C 7728.72 . AB=0.496676;ABP=3.11135;AC=1;AF=0.5;AN=2;AO=523;CIGAR=1X;DP=1053;DPB=1053;DPRA=0;EPP=40.4817;EPPR=5.60525;GTI=0;LEN=1;MEANALT=3;MQM=33.2199;MQMR=35.9793;NS=1;NUMALT=1;ODDS=1779.6;PAIRED=0.89675;PAIREDR=0.890041;PAO=0;PQA=0;PQR=0;PRO=0;QA=14119;QR=13875;RO=482;RPL=185;RPP=100.203;RPPR=91.3108;RPR=338;RUN=1;SAF=309;SAP=40.4817;SAR=214;SRF=308;SRP=83.9044;SRR=174;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;1000g2015aug_all=0.722843;avsnp147=rs2802267;Kaviar_AF=0.741077;Kaviar_AC=114572;Kaviar_AN=154602;ExAC_ALL=0.7643;ExAC_AFR=0.7748;ExAC_AMR=0.7454;ExAC_EAS=0.5929;ExAC_FIN=0.7959;ExAC_NFE=0.7860;ExAC_OTH=0.7900;ExAC_SAS=0.7593;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7556;gnomAD_exome_AFR=0.7691;gnomAD_exome_AMR=0.7395;gnomAD_exome_ASJ=0.7559;gnomAD_exome_EAS=0.5739;gnomAD_exome_FIN=0.7879;gnomAD_exome_NFE=0.7796;gnomAD_exome_OTH=0.7732;gnomAD_exome_SAS=0.7563;gnomAD_genome_ALL=0.7564;gnomAD_genome_AFR=0.7697;gnomAD_genome_AMR=0.7488;gnomAD_genome_ASJ=0.7733;gnomAD_genome_EAS=0.5608;gnomAD_genome_FIN=0.7861;gnomAD_genome_NFE=0.7624;gnomAD_genome_OTH=0.7633;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1053:482:13875:523:14119:-798.572,0,-809.744 -chr1 227081850 . G A 5207.87 . AB=0.451581;ABP=23.6178;AC=1;AF=0.5;AN=2;AO=457;CIGAR=1X;DP=1012;DPB=1012;DPRA=0;EPP=3.81332;EPPR=17.3209;GTI=0;LEN=1;MEANALT=3;MQM=31.8534;MQMR=34.3712;NS=1;NUMALT=1;ODDS=1199.16;PAIRED=0.943107;PAIREDR=0.945233;PAO=0;PQA=0;PQR=0;PRO=0;QA=10859;QR=14738;RO=493;RPL=277;RPP=47.7179;RPPR=49.7388;RPR=180;RUN=1;SAF=193;SAP=26.963;SAR=264;SRF=220;SRP=15.3828;SRR=273;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;1000g2015aug_all=0.574081;avsnp147=rs2855562;Kaviar_AF=0.556481;Kaviar_AC=86033;Kaviar_AN=154602;ExAC_ALL=0.5757;ExAC_AFR=0.4945;ExAC_AMR=0.6755;ExAC_EAS=0.6536;ExAC_FIN=0.6065;ExAC_NFE=0.5668;ExAC_OTH=0.6067;ExAC_SAS=0.5375;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5789;gnomAD_exome_AFR=0.4836;gnomAD_exome_AMR=0.6677;gnomAD_exome_ASJ=0.6477;gnomAD_exome_EAS=0.6511;gnomAD_exome_FIN=0.5970;gnomAD_exome_NFE=0.5551;gnomAD_exome_OTH=0.6049;gnomAD_exome_SAS=0.5353;gnomAD_genome_ALL=0.5439;gnomAD_genome_AFR=0.4892;gnomAD_genome_AMR=0.6730;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.6568;gnomAD_genome_FIN=0.6025;gnomAD_genome_NFE=0.5390;gnomAD_genome_OTH=0.5680;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1012:493:14738:457:10859:-535.93,0,-867.367 -chr1 228399482 . C G 13391.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=766;CIGAR=1X;DP=795;DPB=795;DPRA=0;EPP=25.9723;EPPR=36.0395;GTI=0;LEN=1;MEANALT=3;MQM=28.3864;MQMR=22.4211;NS=1;NUMALT=1;ODDS=961.265;PAIRED=0.917755;PAIREDR=0.947368;PAO=0;PQA=0;PQR=0;PRO=0;QA=19659;QR=363;RO=19;RPL=302;RPP=77.4073;RPPR=5.8675;RPR=464;RUN=1;SAF=516;SAP=203.591;SAR=250;SRF=8;SRP=4.03889;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;1000g2015aug_all=0.721046;avsnp147=rs11804508;Kaviar_AF=0.576681;Kaviar_AC=89156;Kaviar_AN=154602;ExAC_ALL=0.6570;ExAC_AFR=0.6684;ExAC_AMR=0.6065;ExAC_EAS=0.8257;ExAC_FIN=0.6696;ExAC_NFE=0.6207;ExAC_OTH=0.6824;ExAC_SAS=0.7884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6480;gnomAD_exome_AFR=0.6555;gnomAD_exome_AMR=0.5965;gnomAD_exome_ASJ=0.5985;gnomAD_exome_EAS=0.8234;gnomAD_exome_FIN=0.6513;gnomAD_exome_NFE=0.6047;gnomAD_exome_OTH=0.6380;gnomAD_exome_SAS=0.7706;gnomAD_genome_ALL=0.6405;gnomAD_genome_AFR=0.6595;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8323;gnomAD_genome_FIN=0.6405;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:795:19:363:766:19659:-1367.71,-210.686,0 -chr1 228399766 . T C 10366 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=463;CIGAR=1X;DP=474;DPB=474;DPRA=0;EPP=3.24011;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=31.9654;MQMR=36.75;NS=1;NUMALT=1;ODDS=615.75;PAIRED=0.781857;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14374;QR=96;RO=4;RPL=322;RPP=156.66;RPPR=3.0103;RPR=141;RUN=1;SAF=209;SAP=12.5076;SAR=254;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;cytoBand=1q42.13;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;1000g2015aug_all=0.726238;avsnp147=rs55971985;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;ExAC_ALL=0.6937;ExAC_AFR=0.6981;ExAC_AMR=0.6408;ExAC_EAS=0.8338;ExAC_FIN=0.7538;ExAC_NFE=0.6233;ExAC_OTH=0.6301;ExAC_SAS=0.7563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6560;gnomAD_exome_AFR=0.6872;gnomAD_exome_AMR=0.6053;gnomAD_exome_ASJ=0.6068;gnomAD_exome_EAS=0.8068;gnomAD_exome_FIN=0.6433;gnomAD_exome_NFE=0.6077;gnomAD_exome_OTH=0.6439;gnomAD_exome_SAS=0.7632;gnomAD_genome_ALL=0.6463;gnomAD_genome_AFR=0.6803;gnomAD_genome_AMR=0.5941;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8193;gnomAD_genome_FIN=0.6427;gnomAD_genome_NFE=0.6101;gnomAD_genome_OTH=0.6674;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:474:4:96:463:14374:-1055.55,-132.071,0 -chr1 228402047 . A G 26581.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1327;CIGAR=1X;DP=1356;DPB=1356;DPRA=0;EPP=4.03304;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=29.5154;MQMR=22.6667;NS=1;NUMALT=1;ODDS=1768.79;PAIRED=0.887717;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=37260;QR=219;RO=12;RPL=652;RPP=3.87594;RPPR=9.52472;RPR=675;RUN=1;SAF=666;SAP=3.05121;SAR=661;SRF=9;SRP=9.52472;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;cytoBand=1q42.13;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;1000g2015aug_all=0.719848;avsnp147=rs1620111;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;ExAC_ALL=0.6544;ExAC_AFR=0.6583;ExAC_AMR=0.6030;ExAC_EAS=0.8132;ExAC_FIN=0.6609;ExAC_NFE=0.6132;ExAC_OTH=0.6633;ExAC_SAS=0.7672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6515;gnomAD_exome_AFR=0.6615;gnomAD_exome_AMR=0.6027;gnomAD_exome_ASJ=0.6049;gnomAD_exome_EAS=0.8094;gnomAD_exome_FIN=0.6582;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6406;gnomAD_exome_SAS=0.7665;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6612;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8168;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6663;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1356:12:219:1327:37260:-2659.88,-388.457,0 -chr1 228402121 . A G 19396.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=967;CIGAR=1X;DP=986;DPB=986;DPRA=0;EPP=91.9374;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=30.3278;MQMR=31.4;NS=1;NUMALT=1;ODDS=1303.01;PAIRED=0.918304;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26890;QR=161;RO=5;RPL=638;RPP=217.42;RPPR=3.44459;RPR=329;RUN=1;SAF=372;SAP=114.681;SAR=595;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;cytoBand=1q42.13;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;1000g2015aug_all=0.719649;avsnp147=rs1771487;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;ExAC_ALL=0.6539;ExAC_AFR=0.6577;ExAC_AMR=0.6032;ExAC_EAS=0.8131;ExAC_FIN=0.6616;ExAC_NFE=0.6122;ExAC_OTH=0.6633;ExAC_SAS=0.7671;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.989;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_pred=P;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=3.331;CADD_phred=22.9;DANN_score=0.997;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=15.165;hgmdPRO=.;gnomAD_exome_ALL=0.6517;gnomAD_exome_AFR=0.6616;gnomAD_exome_AMR=0.6028;gnomAD_exome_ASJ=0.6046;gnomAD_exome_EAS=0.8095;gnomAD_exome_FIN=0.6583;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6398;gnomAD_exome_SAS=0.7663;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6600;gnomAD_genome_AMR=0.5923;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8182;gnomAD_genome_FIN=0.6406;gnomAD_genome_NFE=0.6104;gnomAD_genome_OTH=0.6643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:986:5:161:967:26890:-1983.94,-281.63,0 -chr1 228431095 . A G 6753.88 . AB=0.467519;ABP=11.6153;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=939;DPB=939;DPRA=0;EPP=9.06965;EPPR=17.6865;GTI=0;LEN=1;MEANALT=3;MQM=33.2096;MQMR=33.9677;NS=1;NUMALT=1;ODDS=1555.14;PAIRED=0.911162;PAIREDR=0.909483;PAO=0;PQA=0;PQR=0;PRO=0;QA=12727;QR=13875;RO=464;RPL=298;RPP=124.934;RPPR=92.1343;RPR=141;RUN=1;SAF=141;SAP=124.934;SAR=298;SRF=169;SRP=77.3084;SRR=295;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;cytoBand=1q42.13;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;1000g2015aug_all=0.616613;avsnp147=rs1771455;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;ExAC_ALL=0.6499;ExAC_AFR=0.7051;ExAC_AMR=0.6700;ExAC_EAS=0.5783;ExAC_FIN=0.7014;ExAC_NFE=0.6797;ExAC_OTH=0.6205;ExAC_SAS=0.5015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6494;gnomAD_exome_AFR=0.7020;gnomAD_exome_AMR=0.6802;gnomAD_exome_ASJ=0.6343;gnomAD_exome_EAS=0.5779;gnomAD_exome_FIN=0.6980;gnomAD_exome_NFE=0.6767;gnomAD_exome_OTH=0.6502;gnomAD_exome_SAS=0.5002;gnomAD_genome_ALL=0.6885;gnomAD_genome_AFR=0.7037;gnomAD_genome_AMR=0.6921;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5489;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6910;gnomAD_genome_OTH=0.6711;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:939:464:13875:439:12727:-708.852,0,-801.442 -chr1 228433217 . A G 114.358 . AB=0.437659;ABP=16.2767;AC=1;AF=0.5;AN=2;AO=172;CIGAR=1X;DP=393;DPB=393;DPRA=0;EPP=68.4575;EPPR=32.0779;GTI=0;LEN=1;MEANALT=3;MQM=11.4826;MQMR=15.5297;NS=1;NUMALT=1;ODDS=26.3318;PAIRED=0.976744;PAIREDR=0.945545;PAO=0;PQA=0;PQR=0;PRO=0;QA=4881;QR=6205;RO=202;RPL=51;RPP=64.872;RPPR=52.7177;RPR=121;RUN=1;SAF=19;SAP=229.702;SAR=153;SRF=34;SRP=196.035;SRR=168;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;cytoBand=1q42.13;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;1000g2015aug_all=0.616613;avsnp147=rs2487384;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;ExAC_ALL=0.6502;ExAC_AFR=0.7041;ExAC_AMR=0.6695;ExAC_EAS=0.5806;ExAC_FIN=0.7014;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6499;gnomAD_exome_AFR=0.7019;gnomAD_exome_AMR=0.6806;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5788;gnomAD_exome_FIN=0.6977;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6507;gnomAD_exome_SAS=0.5032;gnomAD_genome_ALL=0.6889;gnomAD_genome_AFR=0.7043;gnomAD_genome_AMR=0.6914;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5509;gnomAD_genome_FIN=0.7152;gnomAD_genome_NFE=0.6913;gnomAD_genome_OTH=0.6724;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:393:202:6205:172:4881:-57.6498,0,-155.007 -chr1 228434395 . T C 2762.58 . AB=0.517172;ABP=4.27809;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=495;DPB=495;DPRA=0;EPP=8.74434;EPPR=9.69587;GTI=0;LEN=1;MEANALT=3;MQM=23.7891;MQMR=30.1084;NS=1;NUMALT=1;ODDS=530.357;PAIRED=0.890625;PAIREDR=0.926108;PAO=0;PQA=0;PQR=0;PRO=0;QA=7354;QR=5214;RO=203;RPL=112;RPP=11.6962;RPPR=6.87188;RPR=144;RUN=1;SAF=73;SAP=105.646;SAR=183;SRF=72;SRP=40.2462;SRR=131;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;cytoBand=1q42.13;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;1000g2015aug_all=0.617612;avsnp147=rs7517088;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;ExAC_ALL=0.6498;ExAC_AFR=0.7052;ExAC_AMR=0.6695;ExAC_EAS=0.5791;ExAC_FIN=0.7016;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6496;gnomAD_exome_AFR=0.7027;gnomAD_exome_AMR=0.6808;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5782;gnomAD_exome_FIN=0.6979;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6505;gnomAD_exome_SAS=0.5004;gnomAD_genome_ALL=0.6887;gnomAD_genome_AFR=0.7048;gnomAD_genome_AMR=0.6933;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5508;gnomAD_genome_FIN=0.7148;gnomAD_genome_NFE=0.6906;gnomAD_genome_OTH=0.6714;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:495:203:5214:256:7354:-296.925,0,-243.657 -chr1 228434467 . T C 3099.01 . AB=0.505695;ABP=3.13396;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=439;DPB=439;DPRA=0;EPP=11.8136;EPPR=9.83025;GTI=0;LEN=1;MEANALT=3;MQM=30.7658;MQMR=34.2814;NS=1;NUMALT=1;ODDS=601.957;PAIRED=0.963964;PAIREDR=0.929648;PAO=0;PQA=0;PQR=0;PRO=0;QA=6401;QR=5168;RO=199;RPL=125;RPP=10.6789;RPPR=40.9947;RPR=97;RUN=1;SAF=41;SAP=194.726;SAR=181;SRF=52;SRP=101.49;SRR=147;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;cytoBand=1q42.13;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;1000g2015aug_all=0.66254;avsnp147=rs7517108;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;ExAC_ALL=0.6689;ExAC_AFR=0.8216;ExAC_AMR=0.7404;ExAC_EAS=0.5954;ExAC_FIN=0.7009;ExAC_NFE=0.6802;ExAC_OTH=0.6258;ExAC_SAS=0.5101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6681;gnomAD_exome_AFR=0.8207;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6363;gnomAD_exome_EAS=0.5940;gnomAD_exome_FIN=0.6974;gnomAD_exome_NFE=0.6773;gnomAD_exome_OTH=0.6632;gnomAD_exome_SAS=0.5094;gnomAD_genome_ALL=0.7236;gnomAD_genome_AFR=0.8169;gnomAD_genome_AMR=0.7404;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.5741;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6917;gnomAD_genome_OTH=0.6782;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:439:199:5168:222:6401:-339.636,0,-283.575 -chr1 228444565 . T A 5572.23 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=351;CIGAR=1X;DP=395;DPB=395;DPRA=0;EPP=155.502;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=29.7749;MQMR=35.3333;NS=1;NUMALT=1;ODDS=474.966;PAIRED=0.940171;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8618;QR=42;RO=3;RPL=77;RPP=243.103;RPPR=3.73412;RPR=274;RUN=1;SAF=100;SAP=144.069;SAR=251;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7532342;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=-4.01;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_pred=N;VEST3_score=0.295;CADD_raw=0.030;CADD_phred=2.884;DANN_score=0.239;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.6;phyloP7way_vertebrate=0.127;phyloP20way_mammalian=0.200;phastCons7way_vertebrate=0.551;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=10.586;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:395:3:42:351:8618:-615.249,-102.821,0 -chr1 228451826 . C T 648.618 . AB=0.443515;ABP=9.63375;AC=1;AF=0.5;AN=2;AO=106;CIGAR=1X;DP=239;DPB=239;DPRA=0;EPP=19.071;EPPR=49.581;GTI=0;LEN=1;MEANALT=3;MQM=25.1981;MQMR=25.2816;NS=1;NUMALT=1;ODDS=149.35;PAIRED=0.943396;PAIREDR=0.902913;PAO=0;PQA=0;PQR=0;PRO=0;QA=2210;QR=2763;RO=103;RPL=56;RPP=3.74778;RPPR=14.1628;RPR=50;RUN=1;SAF=87;SAP=97.7357;SAR=19;SRF=77;SRP=57.8452;SRR=26;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;cytoBand=1q42.13;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;1000g2015aug_all=0.30631;avsnp147=rs453140;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;ExAC_ALL=0.2944;ExAC_AFR=0.2505;ExAC_AMR=0.2738;ExAC_EAS=0.4042;ExAC_FIN=0.3589;ExAC_NFE=0.2922;ExAC_OTH=0.2897;ExAC_SAS=0.2611;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.448;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.96;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_pred=T;PROVEAN_score=0.88;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=0.352;CADD_phred=6.186;DANN_score=0.718;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-1.6;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.767;phastCons7way_vertebrate=0.089;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=6.177;hgmdPRO=.;gnomAD_exome_ALL=0.2933;gnomAD_exome_AFR=0.2485;gnomAD_exome_AMR=0.2811;gnomAD_exome_ASJ=0.2382;gnomAD_exome_EAS=0.4012;gnomAD_exome_FIN=0.3522;gnomAD_exome_NFE=0.2892;gnomAD_exome_OTH=0.2858;gnomAD_exome_SAS=0.2600;gnomAD_genome_ALL=0.2987;gnomAD_genome_AFR=0.2592;gnomAD_genome_AMR=0.2780;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3870;gnomAD_genome_FIN=0.3499;gnomAD_genome_NFE=0.3003;gnomAD_genome_OTH=0.3279;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:239:103:2763:106:2210:-83.2948,0,-97.8162 -chr1 228456385 . G T 104.758 . AB=0.346369;ABP=39.707;AC=1;AF=0.5;AN=2;AO=62;CIGAR=1X;DP=179;DPB=179;DPRA=0;EPP=3.15039;EPPR=20.4596;GTI=0;LEN=1;MEANALT=3;MQM=19.0161;MQMR=19.0714;NS=1;NUMALT=1;ODDS=24.1214;PAIRED=0.806452;PAIREDR=0.767857;PAO=0;PQA=0;PQR=0;PRO=0;QA=1459;QR=3098;RO=112;RPL=19;RPP=23.184;RPPR=63.8115;RPR=43;RUN=1;SAF=33;SAP=3.57068;SAR=29;SRF=45;SRP=12.3942;SRR=67;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.G5016T:p.V1672V,OBSCN:NM_052843:exon17:c.G5016T:p.V1672V,OBSCN:NM_001271223:exon19:c.G5568T:p.V1856V;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749485410;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.329e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.512e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.959e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:179:112:3098:62:1459:-21.9336,0,-97.9687 -chr1 228461129 . A G 2998.49 . AB=0.460069;ABP=10.9874;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=576;DPB=576;DPRA=0;EPP=39.7942;EPPR=8.72511;GTI=0;LEN=1;MEANALT=3;MQM=27.9019;MQMR=30.2347;NS=1;NUMALT=1;ODDS=690.427;PAIRED=0.833962;PAIREDR=0.884477;PAO=0;PQA=0;PQR=0;PRO=0;QA=6730;QR=7836;RO=277;RPL=114;RPP=14.2282;RPPR=5.84027;RPR=151;RUN=1;SAF=95;SAP=49.1029;SAR=170;SRF=101;SRP=47.1061;SRR=176;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;cytoBand=1q42.13;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69349;avsnp147=rs1188724;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;ExAC_ALL=0.6908;ExAC_AFR=0.8132;ExAC_AMR=0.7420;ExAC_EAS=0.7286;ExAC_FIN=0.7517;ExAC_NFE=0.6973;ExAC_OTH=0.6432;ExAC_SAS=0.5151;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.018;CADD_raw=-0.541;CADD_phred=0.174;DANN_score=0.112;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-1.1;phyloP7way_vertebrate=-0.385;phyloP20way_mammalian=-1.962;phastCons7way_vertebrate=0.584;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=11.816;hgmdPRO=.;gnomAD_exome_ALL=0.6902;gnomAD_exome_AFR=0.8111;gnomAD_exome_AMR=0.7432;gnomAD_exome_ASJ=0.6409;gnomAD_exome_EAS=0.7290;gnomAD_exome_FIN=0.7484;gnomAD_exome_NFE=0.6933;gnomAD_exome_OTH=0.6762;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.7432;gnomAD_genome_AFR=0.8083;gnomAD_genome_AMR=0.7464;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7027;gnomAD_genome_FIN=0.7607;gnomAD_genome_NFE=0.7098;gnomAD_genome_OTH=0.7092;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:576:277:7836:265:6730:-316.782,0,-394.469 -chr1 228464248 . T G 8233.91 . AB=0.515391;ABP=5.6171;AC=1;AF=0.5;AN=2;AO=653;CIGAR=1X;DP=1267;DPB=1267;DPRA=0;EPP=107.191;EPPR=48.8671;GTI=0;LEN=1;MEANALT=3;MQM=29.3063;MQMR=33.4444;NS=1;NUMALT=1;ODDS=1723.89;PAIRED=0.859112;PAIREDR=0.873737;PAO=0;PQA=0;PQR=0;PRO=0;QA=17272;QR=14835;RO=594;RPL=313;RPP=5.4345;RPPR=12.1495;RPR=340;RUN=1;SAF=311;SAP=6.20599;SAR=342;SRF=329;SRP=17.984;SRR=265;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;cytoBand=1q42.13;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;1000g2015aug_all=0.695487;avsnp147=rs1188721;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;ExAC_ALL=0.6930;ExAC_AFR=0.8190;ExAC_AMR=0.7452;ExAC_EAS=0.7280;ExAC_FIN=0.7555;ExAC_NFE=0.6998;ExAC_OTH=0.6572;ExAC_SAS=0.5172;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.460;CADD_phred=0.276;DANN_score=0.574;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=-0.623;phyloP7way_vertebrate=-1.863;phyloP20way_mammalian=-0.337;phastCons7way_vertebrate=0.950;phastCons20way_mammalian=0.548;SiPhy_29way_logOdds=7.276;hgmdPRO=.;gnomAD_exome_ALL=0.6914;gnomAD_exome_AFR=0.8154;gnomAD_exome_AMR=0.7458;gnomAD_exome_ASJ=0.6475;gnomAD_exome_EAS=0.7293;gnomAD_exome_FIN=0.7478;gnomAD_exome_NFE=0.6944;gnomAD_exome_OTH=0.6789;gnomAD_exome_SAS=0.5158;gnomAD_genome_ALL=0.7457;gnomAD_genome_AFR=0.8125;gnomAD_genome_AMR=0.75;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7045;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7121;gnomAD_genome_OTH=0.7102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1267:594:14835:653:17272:-843.255,0,-764.399 -chr1 228464276 . T C 6728 . AB=0.468638;ABP=12.5445;AC=1;AF=0.5;AN=2;AO=523;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=17.4633;EPPR=5.83321;GTI=0;LEN=1;MEANALT=3;MQM=28.8241;MQMR=33.8673;NS=1;NUMALT=1;ODDS=1345.06;PAIRED=0.869981;PAIREDR=0.880769;PAO=0;PQA=0;PQR=0;PRO=0;QA=14828;QR=11893;RO=520;RPL=358;RPP=157.666;RPPR=197.841;RPR=165;RUN=1;SAF=230;SAP=19.4894;SAR=293;SRF=233;SRP=15.1872;SRR=287;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;cytoBand=1q42.13;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;1000g2015aug_all=0.663538;avsnp147=rs1188722;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;ExAC_ALL=0.6843;ExAC_AFR=0.7208;ExAC_AMR=0.7400;ExAC_EAS=0.7297;ExAC_FIN=0.7553;ExAC_NFE=0.6993;ExAC_OTH=0.6523;ExAC_SAS=0.5187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=-2.96;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_pred=T;PROVEAN_score=2.54;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-0.742;CADD_phred=0.058;DANN_score=0.573;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=4.23;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.454;phastCons7way_vertebrate=0.052;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.771;hgmdPRO=.;gnomAD_exome_ALL=0.6829;gnomAD_exome_AFR=0.7134;gnomAD_exome_AMR=0.7399;gnomAD_exome_ASJ=0.6380;gnomAD_exome_EAS=0.7298;gnomAD_exome_FIN=0.7473;gnomAD_exome_NFE=0.6931;gnomAD_exome_OTH=0.6715;gnomAD_exome_SAS=0.5151;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.7154;gnomAD_genome_AMR=0.7416;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.7037;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7115;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1116:520:11893:523:14828:-699.682,0,-613.675 -chr1 228464842 . C G 3529.52 . AB=0.489758;ABP=3.49959;AC=1;AF=0.5;AN=2;AO=263;CIGAR=1X;DP=537;DPB=537;DPRA=0;EPP=3.21671;EPPR=11.9338;GTI=0;LEN=1;MEANALT=3;MQM=33.8213;MQMR=33.3849;NS=1;NUMALT=1;ODDS=812.703;PAIRED=0.901141;PAIREDR=0.826415;PAO=0;PQA=0;PQR=0;PRO=0;QA=7287;QR=7797;RO=265;RPL=12;RPP=474.633;RPPR=535.84;RPR=251;RUN=1;SAF=134;SAP=3.21671;SAR=129;SRF=117;SRP=10.885;SRR=148;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69369;avsnp147=rs936885;Kaviar_AF=0.594837;Kaviar_AC=91963;Kaviar_AN=154602;ExAC_ALL=0.6935;ExAC_AFR=0.8326;ExAC_AMR=0.7542;ExAC_EAS=0.7475;ExAC_FIN=0.7694;ExAC_NFE=0.7158;ExAC_OTH=0.6606;ExAC_SAS=0.5334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6853;gnomAD_exome_AFR=0.8185;gnomAD_exome_AMR=0.7484;gnomAD_exome_ASJ=0.6388;gnomAD_exome_EAS=0.7264;gnomAD_exome_FIN=0.7465;gnomAD_exome_NFE=0.6887;gnomAD_exome_OTH=0.6686;gnomAD_exome_SAS=0.5141;gnomAD_genome_ALL=0.7420;gnomAD_genome_AFR=0.8133;gnomAD_genome_AMR=0.7512;gnomAD_genome_ASJ=0.6367;gnomAD_genome_EAS=0.7024;gnomAD_genome_FIN=0.7585;gnomAD_genome_NFE=0.7050;gnomAD_genome_OTH=0.7057;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:537:265:7797:263:7287:-417.994,0,-432.834 -chr1 228465370 . T G 9956.39 . AB=0.518494;ABP=7.50815;AC=1;AF=0.5;AN=2;AO=785;CIGAR=1X;DP=1514;DPB=1514;DPRA=0;EPP=19.4111;EPPR=9.51857;GTI=0;LEN=1;MEANALT=3;MQM=29.8446;MQMR=32.4688;NS=1;NUMALT=1;ODDS=2039.88;PAIRED=0.867516;PAIREDR=0.896601;PAO=0;PQA=0;PQR=0;PRO=0;QA=20854;QR=18433;RO=706;RPL=459;RPP=51.9417;RPPR=310.141;RPR=326;RUN=1;SAF=299;SAP=99.7418;SAR=486;SRF=287;SRP=56.602;SRR=419;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.669529;avsnp147=rs867599;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;ExAC_ALL=0.7209;ExAC_AFR=0.7637;ExAC_AMR=0.7787;ExAC_EAS=0.7850;ExAC_FIN=0.8019;ExAC_NFE=0.7351;ExAC_OTH=0.6969;ExAC_SAS=0.5538;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6904;gnomAD_exome_AFR=0.7334;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6227;gnomAD_exome_EAS=0.7574;gnomAD_exome_FIN=0.7808;gnomAD_exome_NFE=0.6986;gnomAD_exome_OTH=0.6741;gnomAD_exome_SAS=0.5120;gnomAD_genome_ALL=0.7303;gnomAD_genome_AFR=0.7383;gnomAD_genome_AMR=0.7410;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.7373;gnomAD_genome_FIN=0.7900;gnomAD_genome_NFE=0.7141;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1514:706:18433:785:20854:-1021.17,0,-932.888 -chr1 228467643 . G A 9490.05 . AB=0.442739;ABP=51.2544;AC=1;AF=0.5;AN=2;AO=750;CIGAR=1X;DP=1694;DPB=1694;DPRA=0;EPP=7.19111;EPPR=23.077;GTI=0;LEN=1;MEANALT=3;MQM=33.6933;MQMR=34.4535;NS=1;NUMALT=1;ODDS=2185.17;PAIRED=0.897333;PAIREDR=0.872315;PAO=0;PQA=0;PQR=0;PRO=0;QA=18231;QR=25550;RO=838;RPL=313;RPP=47.5284;RPPR=94.5956;RPR=437;RUN=1;SAF=395;SAP=7.64277;SAR=355;SRF=472;SRP=32.1257;SRR=366;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.G7518A:p.T2506T,OBSCN:NM_052843:exon28:c.G7518A:p.T2506T,OBSCN:NM_001271223:exon33:c.G8805A:p.T2935T;cytoBand=1q42.13;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371605678;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=8.948e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1694:838:25550:750:18231:-963.717,0,-1515.6 -chr1 228468458 . G A 1865.43 . AB=0.470982;ABP=6.2869;AC=1;AF=0.5;AN=2;AO=211;CIGAR=1X;DP=448;DPB=448;DPRA=0;EPP=12.9003;EPPR=5.68288;GTI=0;LEN=1;MEANALT=3;MQM=25.7014;MQMR=27.4615;NS=1;NUMALT=1;ODDS=429.531;PAIRED=0.834123;PAIREDR=0.802885;PAO=0;PQA=0;PQR=0;PRO=0;QA=5301;QR=6277;RO=208;RPL=182;RPP=243.92;RPPR=190.467;RPR=29;RUN=1;SAF=79;SAP=31.9187;SAR=132;SRF=75;SRP=38.1297;SRR=133;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;cytoBand=1q42.13;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;1000g2015aug_all=0.31889;avsnp147=rs1188697;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;ExAC_ALL=0.3004;ExAC_AFR=0.4028;ExAC_AMR=0.2863;ExAC_EAS=0.2060;ExAC_FIN=0.3870;ExAC_NFE=0.3115;ExAC_OTH=0.2897;ExAC_SAS=0.2283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.444;CADD_raw=1.572;CADD_phred=13.70;DANN_score=0.989;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.451;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.134;phastCons7way_vertebrate=0.336;phastCons20way_mammalian=0.474;SiPhy_29way_logOdds=8.559;hgmdPRO=.;gnomAD_exome_ALL=0.2947;gnomAD_exome_AFR=0.3907;gnomAD_exome_AMR=0.2927;gnomAD_exome_ASJ=0.2392;gnomAD_exome_EAS=0.2020;gnomAD_exome_FIN=0.3793;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2924;gnomAD_exome_SAS=0.2259;gnomAD_genome_ALL=0.3390;gnomAD_genome_AFR=0.3926;gnomAD_genome_AMR=0.2859;gnomAD_genome_ASJ=0.2550;gnomAD_genome_EAS=0.2020;gnomAD_genome_FIN=0.3732;gnomAD_genome_NFE=0.3193;gnomAD_genome_OTH=0.3385;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:448:208:6277:211:5301:-224.31,0,-289.214 -chr1 228470995 . G T 5128.95 . AB=0.438285;ABP=34.6375;AC=1;AF=0.5;AN=2;AO=419;CIGAR=1X;DP=956;DPB=956;DPRA=0;EPP=38.7126;EPPR=8.3002;GTI=0;LEN=1;MEANALT=3;MQM=33.9809;MQMR=35.1654;NS=1;NUMALT=1;ODDS=1180.98;PAIRED=0.914081;PAIREDR=0.906015;PAO=0;PQA=0;PQR=0;PRO=0;QA=11021;QR=15825;RO=532;RPL=347;RPP=394.938;RPPR=420.978;RPR=72;RUN=1;SAF=128;SAP=140.704;SAR=291;SRF=180;SRP=123.764;SRR=352;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;1000g2015aug_all=0.318091;avsnp147=rs1150906;Kaviar_AF=0.217817;Kaviar_AC=33675;Kaviar_AN=154602;ExAC_ALL=0.3453;ExAC_AFR=0.4437;ExAC_AMR=0.3748;ExAC_EAS=0.3027;ExAC_FIN=0.4841;ExAC_NFE=0.3709;ExAC_OTH=0.3190;ExAC_SAS=0.2534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2890;gnomAD_exome_AFR=0.3870;gnomAD_exome_AMR=0.2948;gnomAD_exome_ASJ=0.2404;gnomAD_exome_EAS=0.2011;gnomAD_exome_FIN=0.3768;gnomAD_exome_NFE=0.2972;gnomAD_exome_OTH=0.2827;gnomAD_exome_SAS=0.2266;gnomAD_genome_ALL=0.3393;gnomAD_genome_AFR=0.3950;gnomAD_genome_AMR=0.2876;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2016;gnomAD_genome_FIN=0.3734;gnomAD_genome_NFE=0.3185;gnomAD_genome_OTH=0.3361;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:956:532:15825:419:11021:-583.843,0,-966.493 -chr1 228475848 . G A 5689.71 . AB=0.453501;ABP=20.9834;AC=1;AF=0.5;AN=2;AO=434;CIGAR=1X;DP=957;DPB=957;DPRA=0;EPP=13.5975;EPPR=5.71759;GTI=0;LEN=1;MEANALT=3;MQM=31.9608;MQMR=33.9437;NS=1;NUMALT=1;ODDS=1310.1;PAIRED=0.898618;PAIREDR=0.885281;PAO=0;PQA=0;PQR=0;PRO=0;QA=11370;QR=13798;RO=462;RPL=275;RPP=70.336;RPPR=11.3014;RPR=159;RUN=1;SAF=161;SAP=65.7729;SAR=273;SRF=163;SRP=89.9444;SRR=299;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;cytoBand=1q42.13;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;1000g2015aug_all=0.302716;avsnp147=rs437129;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;ExAC_ALL=0.2923;ExAC_AFR=0.3499;ExAC_AMR=0.2816;ExAC_EAS=0.2052;ExAC_FIN=0.3863;ExAC_NFE=0.3041;ExAC_OTH=0.2833;ExAC_SAS=0.2265;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.424;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=4.107;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.515;SiPhy_29way_logOdds=10.701;hgmdPRO=.;gnomAD_exome_ALL=0.2908;gnomAD_exome_AFR=0.3469;gnomAD_exome_AMR=0.2902;gnomAD_exome_ASJ=0.2390;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.3788;gnomAD_exome_NFE=0.3017;gnomAD_exome_OTH=0.2916;gnomAD_exome_SAS=0.2270;gnomAD_genome_ALL=0.3248;gnomAD_genome_AFR=0.3473;gnomAD_genome_AMR=0.2847;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2027;gnomAD_genome_FIN=0.3728;gnomAD_genome_NFE=0.3168;gnomAD_genome_OTH=0.3354;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:957:462:13798:434:11370:-591.177,0,-784.818 -chr1 228480282 . A G 1184.39 . AB=0.443038;ABP=18.5954;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=553;DPB=553;DPRA=0;EPP=83.0003;EPPR=35.8937;GTI=0;LEN=1;MEANALT=3;MQM=17.2571;MQMR=20.8315;NS=1;NUMALT=1;ODDS=272.716;PAIRED=0.922449;PAIREDR=0.910394;PAO=0;PQA=0;PQR=0;PRO=0;QA=6850;QR=8011;RO=279;RPL=180;RPP=120.225;RPPR=136.575;RPR=65;RUN=1;SAF=195;SAP=189.358;SAR=50;SRF=210;SRP=157.745;SRR=69;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;cytoBand=1q42.13;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;1000g2015aug_all=0.698882;avsnp147=rs1150908;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;ExAC_ALL=0.6946;ExAC_AFR=0.8268;ExAC_AMR=0.7487;ExAC_EAS=0.7309;ExAC_FIN=0.7722;ExAC_NFE=0.7029;ExAC_OTH=0.6533;ExAC_SAS=0.4970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6954;gnomAD_exome_AFR=0.8257;gnomAD_exome_AMR=0.7516;gnomAD_exome_ASJ=0.6408;gnomAD_exome_EAS=0.7292;gnomAD_exome_FIN=0.7705;gnomAD_exome_NFE=0.6999;gnomAD_exome_OTH=0.6860;gnomAD_exome_SAS=0.4987;gnomAD_genome_ALL=0.7525;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7017;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7148;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:553:279:8011:245:6850:-166.392,0,-282.651 -chr1 228482010 . C T 1120.78 . AB=0.355752;ABP=105.123;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1X;DP=565;DPB=565;DPRA=0;EPP=12.0959;EPPR=10.1545;GTI=0;LEN=1;MEANALT=3;MQM=22.7214;MQMR=24.4955;NS=1;NUMALT=1;ODDS=258.07;PAIRED=0.915423;PAIREDR=0.906344;PAO=0;PQA=0;PQR=0;PRO=0;QA=4929;QR=9789;RO=331;RPL=153;RPP=122.117;RPPR=119.056;RPR=48;RUN=1;SAF=93;SAP=5.44105;SAR=108;SRF=125;SRP=46.0527;SRR=206;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;cytoBand=1q42.13;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;1000g2015aug_all=0.381989;avsnp147=rs449133;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;ExAC_ALL=0.4358;ExAC_AFR=0.4244;ExAC_AMR=0.3494;ExAC_EAS=0.2061;ExAC_FIN=0.5641;ExAC_NFE=0.4961;ExAC_OTH=0.4278;ExAC_SAS=0.3281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4344;gnomAD_exome_AFR=0.4206;gnomAD_exome_AMR=0.3665;gnomAD_exome_ASJ=0.4076;gnomAD_exome_EAS=0.2030;gnomAD_exome_FIN=0.5609;gnomAD_exome_NFE=0.497;gnomAD_exome_OTH=0.4466;gnomAD_exome_SAS=0.3315;gnomAD_genome_ALL=0.4781;gnomAD_genome_AFR=0.4307;gnomAD_genome_AMR=0.3846;gnomAD_genome_ASJ=0.4073;gnomAD_genome_EAS=0.2066;gnomAD_genome_FIN=0.5630;gnomAD_genome_NFE=0.5212;gnomAD_genome_OTH=0.4867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:565:331:9789:201:4929:-139.848,0,-436.473 -chr1 228492044 . G A 5488.91 . AB=0.439318;ABP=34.8985;AC=1;AF=0.5;AN=2;AO=438;CIGAR=1X;DP=997;DPB=997;DPRA=0;EPP=31.646;EPPR=9.82276;GTI=0;LEN=1;MEANALT=3;MQM=31.9475;MQMR=32.1686;NS=1;NUMALT=1;ODDS=1263.87;PAIRED=0.920091;PAIREDR=0.880392;PAO=0;PQA=0;PQR=0;PRO=0;QA=11416;QR=15121;RO=510;RPL=224;RPP=3.50607;RPPR=74.9669;RPR=214;RUN=1;SAF=271;SAP=56.6328;SAR=167;SRF=287;SRP=20.4502;SRR=223;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;cytoBand=1q42.13;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;1000g2015aug_all=0.369209;avsnp147=rs1150910;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;ExAC_ALL=0.4336;ExAC_AFR=0.3862;ExAC_AMR=0.3476;ExAC_EAS=0.2052;ExAC_FIN=0.5646;ExAC_NFE=0.4986;ExAC_OTH=0.4243;ExAC_SAS=0.3280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4307;gnomAD_exome_AFR=0.3775;gnomAD_exome_AMR=0.3626;gnomAD_exome_ASJ=0.4094;gnomAD_exome_EAS=0.2021;gnomAD_exome_FIN=0.5612;gnomAD_exome_NFE=0.4974;gnomAD_exome_OTH=0.4451;gnomAD_exome_SAS=0.3284;gnomAD_genome_ALL=0.4656;gnomAD_genome_AFR=0.3856;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2051;gnomAD_genome_FIN=0.5635;gnomAD_genome_NFE=0.5219;gnomAD_genome_OTH=0.4867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:997:510:15121:438:11416:-566.244,0,-823.586 -chr1 228494790 . G A 10187.8 . AB=0.459941;ABP=21.7997;AC=1;AF=0.5;AN=2;AO=620;CIGAR=1X;DP=1348;DPB=1348;DPRA=0;EPP=21.1666;EPPR=21.8835;GTI=0;LEN=1;MEANALT=3;MQM=35.2597;MQMR=35.5843;NS=1;NUMALT=1;ODDS=2345.84;PAIRED=0.86129;PAIREDR=0.831429;PAO=0;PQA=0;PQR=0;PRO=0;QA=17983;QR=21987;RO=700;RPL=339;RPP=14.7923;RPPR=28.1373;RPR=281;RUN=1;SAF=331;SAP=9.18849;SAR=289;SRF=374;SRP=10.1575;SRR=326;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;cytoBand=1q42.13;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;1000g2015aug_all=0.26857;avsnp147=rs435776;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;ExAC_ALL=0.4091;ExAC_AFR=0.1020;ExAC_AMR=0.3351;ExAC_EAS=0.2060;ExAC_FIN=0.5709;ExAC_NFE=0.4976;ExAC_OTH=0.4180;ExAC_SAS=0.3271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.558;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.12;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.233;CADD_raw=2.944;CADD_phred=22.0;DANN_score=0.684;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=0.336;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.364;hgmdPRO=.;gnomAD_exome_ALL=0.4111;gnomAD_exome_AFR=0.0995;gnomAD_exome_AMR=0.3482;gnomAD_exome_ASJ=0.4052;gnomAD_exome_EAS=0.2026;gnomAD_exome_FIN=0.5616;gnomAD_exome_NFE=0.4972;gnomAD_exome_OTH=0.4354;gnomAD_exome_SAS=0.3281;gnomAD_genome_ALL=0.3878;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.3684;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.5633;gnomAD_genome_NFE=0.5210;gnomAD_genome_OTH=0.4744;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1348:700:21987:620:17983:-1031.59,0,-1340.16 -chr1 228503677 . A G 8621.92 . AB=0.532528;ABP=12.899;AC=1;AF=0.5;AN=2;AO=573;CIGAR=1X;DP=1076;DPB=1076;DPRA=0;EPP=94.0568;EPPR=31.0068;GTI=0;LEN=1;MEANALT=3;MQM=32.6876;MQMR=33.471;NS=1;NUMALT=1;ODDS=1476.77;PAIRED=0.886562;PAIREDR=0.879464;PAO=0;PQA=0;PQR=0;PRO=0;QA=15417;QR=12442;RO=448;RPL=281;RPP=3.46885;RPPR=25.423;RPR=292;RUN=1;SAF=332;SAP=34.3924;SAR=241;SRF=224;SRP=3.0103;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;cytoBand=1q42.13;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;1000g2015aug_all=0.700879;avsnp147=rs1150912;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.8324;ExAC_AMR=0.7588;ExAC_EAS=0.7335;ExAC_FIN=0.7888;ExAC_NFE=0.7111;ExAC_OTH=0.6720;ExAC_SAS=0.5181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.435;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-2.279;CADD_phred=0.001;DANN_score=0.651;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-6.7;phyloP7way_vertebrate=-0.935;phyloP20way_mammalian=-1.090;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.509;hgmdPRO=.;gnomAD_exome_ALL=0.6901;gnomAD_exome_AFR=0.8269;gnomAD_exome_AMR=0.7489;gnomAD_exome_ASJ=0.6373;gnomAD_exome_EAS=0.7239;gnomAD_exome_FIN=0.7677;gnomAD_exome_NFE=0.6950;gnomAD_exome_OTH=0.6792;gnomAD_exome_SAS=0.4940;gnomAD_genome_ALL=0.7537;gnomAD_genome_AFR=0.8285;gnomAD_genome_AMR=0.7542;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7038;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7144;gnomAD_genome_OTH=0.7064;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1076:448:12442:573:15417:-885.949,0,-657.607 -chr1 228504472 . T C 11287.8 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=811;CIGAR=1X;DP=1622;DPB=1622;DPRA=0;EPP=88.8009;EPPR=3.69363;GTI=0;LEN=1;MEANALT=3;MQM=31.106;MQMR=34.5105;NS=1;NUMALT=1;ODDS=2464.81;PAIRED=0.832306;PAIREDR=0.858741;PAO=0;PQA=0;PQR=0;PRO=0;QA=22031;QR=19745;RO=715;RPL=262;RPP=223.555;RPPR=113.804;RPR=549;RUN=1;SAF=384;SAP=7.96104;SAR=427;SRF=370;SRP=4.90844;SRR=345;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;cytoBand=1q42.13;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;1000g2015aug_all=0.699281;avsnp147=rs1188732;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;ExAC_ALL=0.6949;ExAC_AFR=0.8259;ExAC_AMR=0.7505;ExAC_EAS=0.7283;ExAC_FIN=0.7761;ExAC_NFE=0.7040;ExAC_OTH=0.6470;ExAC_SAS=0.5033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.64;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_pred=N;VEST3_score=0.063;CADD_raw=-1.304;CADD_phred=0.004;DANN_score=0.412;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.27;phyloP7way_vertebrate=-1.917;phyloP20way_mammalian=-0.364;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=3.614;hgmdPRO=.;gnomAD_exome_ALL=0.6931;gnomAD_exome_AFR=0.8231;gnomAD_exome_AMR=0.7511;gnomAD_exome_ASJ=0.6378;gnomAD_exome_EAS=0.7279;gnomAD_exome_FIN=0.7703;gnomAD_exome_NFE=0.6982;gnomAD_exome_OTH=0.6821;gnomAD_exome_SAS=0.4970;gnomAD_genome_ALL=0.7527;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.64;gnomAD_genome_EAS=0.7063;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7090;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1622:715:19745:811:22031:-1170.08,0,-1091.49 -chr1 228504670 . C T 1099.25 . AB=0.423398;ABP=21.3075;AC=1;AF=0.5;AN=2;AO=152;CIGAR=1X;DP=359;DPB=359;DPRA=0;EPP=51.0684;EPPR=40.9797;GTI=0;LEN=1;MEANALT=3;MQM=27.3816;MQMR=31.659;NS=1;NUMALT=1;ODDS=253.111;PAIRED=0.848684;PAIREDR=0.895954;PAO=0;PQA=0;PQR=0;PRO=0;QA=3690;QR=5310;RO=173;RPL=134;RPP=195.243;RPPR=163.285;RPR=18;RUN=1;SAF=29;SAP=129.241;SAR=123;SRF=29;SRP=169.009;SRR=144;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;cytoBand=1q42.13;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;1000g2015aug_all=0.330272;avsnp147=rs11810627;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;ExAC_ALL=0.4230;ExAC_AFR=0.3255;ExAC_AMR=0.3583;ExAC_EAS=0.2462;ExAC_FIN=0.6111;ExAC_NFE=0.5071;ExAC_OTH=0.4385;ExAC_SAS=0.3816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.3;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.389;CADD_raw=3.693;CADD_phred=23.3;DANN_score=0.809;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.971;phyloP7way_vertebrate=-0.061;phyloP20way_mammalian=0.035;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=10.362;hgmdPRO=.;gnomAD_exome_ALL=0.4098;gnomAD_exome_AFR=0.2869;gnomAD_exome_AMR=0.3675;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.2045;gnomAD_exome_FIN=0.5620;gnomAD_exome_NFE=0.4992;gnomAD_exome_OTH=0.4257;gnomAD_exome_SAS=0.3347;gnomAD_genome_ALL=0.4424;gnomAD_genome_AFR=0.2941;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2075;gnomAD_genome_FIN=0.5672;gnomAD_genome_NFE=0.5236;gnomAD_genome_OTH=0.4876;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:359:173:5310:152:3690:-157.073,0,-288.941 -chr1 228504701 . GC GCTCCC 241.936 . AB=0.382353;ABP=23.4477;AC=1;AF=0.5;AN=2;AO=65;CIGAR=1M4I1M;DP=170;DPB=317.5;DPRA=0;EPP=39.3908;EPPR=31.5356;GTI=0;LEN=4;MEANALT=9;MQM=23.9846;MQMR=31.7955;NS=1;NUMALT=1;ODDS=55.7078;PAIRED=0.953846;PAIREDR=0.954545;PAO=3;PQA=96;PQR=0;PRO=0;QA=1603;QR=2803;RO=88;RPL=51;RPP=48.7448;RPPR=74.965;RPR=14;RUN=1;SAF=2;SAP=127.319;SAR=63;SRF=10;SRP=117.111;SRR=78;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:170:88:2803:65:1603:-54.9193,0,-159.509 -chr1 228505668 . C G 10403 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=707;CIGAR=1X;DP=1414;DPB=1414;DPRA=0;EPP=11.6378;EPPR=6.62733;GTI=0;LEN=1;MEANALT=3;MQM=31.5587;MQMR=34.4006;NS=1;NUMALT=1;ODDS=2395.39;PAIRED=0.923621;PAIREDR=0.933718;PAO=0;PQA=0;PQR=0;PRO=0;QA=19429;QR=20031;RO=694;RPL=340;RPP=5.24934;RPPR=4.26187;RPR=367;RUN=1;SAF=433;SAP=80.6581;SAR=274;SRF=421;SRP=71.5462;SRR=273;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;cytoBand=1q42.13;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;1000g2015aug_all=0.699281;avsnp147=rs1188729;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;ExAC_ALL=0.6940;ExAC_AFR=0.8253;ExAC_AMR=0.7480;ExAC_EAS=0.7293;ExAC_FIN=0.7731;ExAC_NFE=0.7027;ExAC_OTH=0.6478;ExAC_SAS=0.4959;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.165;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.11;CADD_raw=0.755;CADD_phred=9.181;DANN_score=0.322;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.986;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=0.009;phyloP20way_mammalian=0.037;phastCons7way_vertebrate=0.140;phastCons20way_mammalian=0.115;SiPhy_29way_logOdds=7.934;hgmdPRO=.;gnomAD_exome_ALL=0.6949;gnomAD_exome_AFR=0.8246;gnomAD_exome_AMR=0.7513;gnomAD_exome_ASJ=0.6385;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.7709;gnomAD_exome_NFE=0.6997;gnomAD_exome_OTH=0.6847;gnomAD_exome_SAS=0.4972;gnomAD_genome_ALL=0.7523;gnomAD_genome_AFR=0.8230;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7042;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7146;gnomAD_genome_OTH=0.7055;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1414:694:20031:707:19429:-1057.48,0,-1144.1 -chr1 228505699 . T C 11351.6 . AB=0.48483;ABP=6.3044;AC=1;AF=0.5;AN=2;AO=799;CIGAR=1X;DP=1648;DPB=1648;DPRA=0;EPP=168.817;EPPR=53.5583;GTI=0;LEN=1;MEANALT=3;MQM=31.3667;MQMR=34.803;NS=1;NUMALT=1;ODDS=2477.26;PAIRED=0.927409;PAIREDR=0.921488;PAO=0;PQA=0;PQR=0;PRO=0;QA=21217;QR=19482;RO=726;RPL=413;RPP=4.99153;RPPR=3.11798;RPR=386;RUN=1;SAF=381;SAP=6.73088;SAR=418;SRF=342;SRP=8.28644;SRR=384;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;cytoBand=1q42.13;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;1000g2015aug_all=0.705871;avsnp147=rs1188728;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;ExAC_ALL=0.6974;ExAC_AFR=0.8496;ExAC_AMR=0.7495;ExAC_EAS=0.7299;ExAC_FIN=0.7775;ExAC_NFE=0.7045;ExAC_OTH=0.65;ExAC_SAS=0.4961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6972;gnomAD_exome_AFR=0.8480;gnomAD_exome_AMR=0.7525;gnomAD_exome_ASJ=0.6392;gnomAD_exome_EAS=0.7294;gnomAD_exome_FIN=0.7722;gnomAD_exome_NFE=0.7007;gnomAD_exome_OTH=0.6869;gnomAD_exome_SAS=0.4973;gnomAD_genome_ALL=0.7600;gnomAD_genome_AFR=0.85;gnomAD_genome_AMR=0.7566;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7046;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7076;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1648:726:19482:799:21217:-1161.66,0,-1090.51 -chr1 228509427 . A G 12200 . AB=0.464798;ABP=18.7568;AC=1;AF=0.5;AN=2;AO=680;CIGAR=1X;DP=1463;DPB=1463;DPRA=0;EPP=20.497;EPPR=139.949;GTI=0;LEN=1;MEANALT=3;MQM=35.1515;MQMR=35.884;NS=1;NUMALT=1;ODDS=2713.52;PAIRED=0.904412;PAIREDR=0.884038;PAO=0;PQA=0;PQR=0;PRO=0;QA=21092;QR=20610;RO=733;RPL=279;RPP=50.54;RPPR=61.9067;RPR=401;RUN=1;SAF=418;SAP=80.7235;SAR=262;SRF=428;SRP=47.8291;SRR=305;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;cytoBand=1q42.13;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;1000g2015aug_all=0.684704;avsnp147=rs373610;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;ExAC_ALL=0.6862;ExAC_AFR=0.8257;ExAC_AMR=0.7027;ExAC_EAS=0.6881;ExAC_FIN=0.7721;ExAC_NFE=0.7021;ExAC_OTH=0.6448;ExAC_SAS=0.4946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.08;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=-0.311;CADD_phred=0.626;DANN_score=0.720;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-2.136;phyloP20way_mammalian=-1.014;phastCons7way_vertebrate=0.036;phastCons20way_mammalian=0.036;SiPhy_29way_logOdds=4.77;hgmdPRO=.;gnomAD_exome_ALL=0.6860;gnomAD_exome_AFR=0.8249;gnomAD_exome_AMR=0.7096;gnomAD_exome_ASJ=0.6381;gnomAD_exome_EAS=0.6892;gnomAD_exome_FIN=0.7701;gnomAD_exome_NFE=0.6995;gnomAD_exome_OTH=0.6774;gnomAD_exome_SAS=0.4964;gnomAD_genome_ALL=0.7495;gnomAD_genome_AFR=0.8238;gnomAD_genome_AMR=0.7124;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.6693;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7026;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1463:733:20610:680:21092:-1243,0,-1211.46 -chr1 228520880 . C T 8084.34 . AB=0.461712;ABP=19.9713;AC=1;AF=0.5;AN=2;AO=615;CIGAR=1X;DP=1332;DPB=1332;DPRA=0;EPP=65.4675;EPPR=70.9962;GTI=0;LEN=1;MEANALT=3;MQM=30.9659;MQMR=30.9276;NS=1;NUMALT=1;ODDS=1861.49;PAIRED=0.884553;PAIREDR=0.859843;PAO=0;PQA=0;PQR=0;PRO=0;QA=16789;QR=19662;RO=635;RPL=165;RPP=289.804;RPPR=218.451;RPR=450;RUN=1;SAF=367;SAP=53.0107;SAR=248;SRF=390;SRP=74.9083;SRR=245;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;1000g2015aug_all=0.341853;avsnp147=rs416564;Kaviar_AF=0.320293;Kaviar_AC=49518;Kaviar_AN=154602;ExAC_ALL=0.3974;ExAC_AFR=0.4161;ExAC_AMR=0.3715;ExAC_EAS=0.2331;ExAC_FIN=0.5008;ExAC_NFE=0.4551;ExAC_OTH=0.3556;ExAC_SAS=0.2554;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3587;gnomAD_exome_AFR=0.3788;gnomAD_exome_AMR=0.3309;gnomAD_exome_ASJ=0.3502;gnomAD_exome_EAS=0.1935;gnomAD_exome_FIN=0.4522;gnomAD_exome_NFE=0.4122;gnomAD_exome_OTH=0.3721;gnomAD_exome_SAS=0.2324;gnomAD_genome_ALL=0.4194;gnomAD_genome_AFR=0.4012;gnomAD_genome_AMR=0.3553;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4488;gnomAD_genome_OTH=0.4045;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1332:635:19662:615:16789:-857.69,0,-1035.94 -chr1 228520973 . C G 13952.8 . AB=0.499733;ABP=3.01146;AC=1;AF=0.5;AN=2;AO=935;CIGAR=1X;DP=1871;DPB=1871;DPRA=0;EPP=23.9702;EPPR=22.0161;GTI=0;LEN=1;MEANALT=3;MQM=31.7658;MQMR=32.8873;NS=1;NUMALT=1;ODDS=3212.75;PAIRED=0.865241;PAIREDR=0.858564;PAO=0;PQA=0;PQR=0;PRO=0;QA=26224;QR=27287;RO=905;RPL=484;RPP=5.53943;RPPR=3.07029;RPR=451;RUN=1;SAF=510;SAP=19.7899;SAR=425;SRF=483;SRP=11.9385;SRR=422;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;cytoBand=1q42.13;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;1000g2015aug_all=0.335064;avsnp147=rs369909;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;ExAC_ALL=0.3938;ExAC_AFR=0.4039;ExAC_AMR=0.3805;ExAC_EAS=0.2645;ExAC_FIN=0.5105;ExAC_NFE=0.4651;ExAC_OTH=0.3388;ExAC_SAS=0.2627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.49;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.385;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.995;CADD_phred=16.18;DANN_score=0.992;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.164;hgmdPRO=.;gnomAD_exome_ALL=0.3597;gnomAD_exome_AFR=0.3557;gnomAD_exome_AMR=0.3367;gnomAD_exome_ASJ=0.3527;gnomAD_exome_EAS=0.1960;gnomAD_exome_FIN=0.4587;gnomAD_exome_NFE=0.4187;gnomAD_exome_OTH=0.3667;gnomAD_exome_SAS=0.2380;gnomAD_genome_ALL=0.4114;gnomAD_genome_AFR=0.3734;gnomAD_genome_AMR=0.3544;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.4485;gnomAD_genome_OTH=0.4033;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1871:905:27287:935:26224:-1407.9,0,-1478.14 -chr1 228523618 . G A 2810.79 . AB=0.516209;ABP=3.92546;AC=1;AF=0.5;AN=2;AO=207;CIGAR=1X;DP=401;DPB=401;DPRA=0;EPP=97.6844;EPPR=77.8841;GTI=0;LEN=1;MEANALT=3;MQM=32.3575;MQMR=33.7624;NS=1;NUMALT=1;ODDS=619.735;PAIRED=0.980676;PAIREDR=0.955801;PAO=0;PQA=0;PQR=0;PRO=0;QA=6126;QR=5784;RO=181;RPL=165;RPP=161.717;RPPR=228.184;RPR=42;RUN=1;SAF=46;SAP=141.743;SAR=161;SRF=59;SRP=50.6267;SRR=122;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;1000g2015aug_all=0.474241;avsnp147=rs1757160;Kaviar_AF=0.0982976;Kaviar_AC=15197;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5195;gnomAD_genome_AFR=0.4515;gnomAD_genome_AMR=0.3981;gnomAD_genome_ASJ=0.4367;gnomAD_genome_EAS=0.5292;gnomAD_genome_FIN=0.6168;gnomAD_genome_NFE=0.5431;gnomAD_genome_OTH=0.5307;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:401:181:5784:207:6126:-329.888,0,-314.353 -chr1 228524961 . C A 9641.95 . AB=0.459941;ABP=21.7997;AC=1;AF=0.5;AN=2;AO=620;CIGAR=1X;DP=1348;DPB=1348;DPRA=0;EPP=5.02767;EPPR=47.301;GTI=0;LEN=1;MEANALT=3;MQM=32.9839;MQMR=35.3839;NS=1;NUMALT=1;ODDS=2220.14;PAIRED=0.943548;PAIREDR=0.916431;PAO=0;PQA=0;PQR=0;PRO=0;QA=18049;QR=20546;RO=706;RPL=197;RPP=181.898;RPPR=261.68;RPR=423;RUN=1;SAF=351;SAP=26.5603;SAR=269;SRF=387;SRP=17.2325;SRR=319;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;cytoBand=1q42.13;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;1000g2015aug_all=0.239816;avsnp147=rs3795808;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;ExAC_ALL=0.3570;ExAC_AFR=0.0981;ExAC_AMR=0.3123;ExAC_EAS=0.2149;ExAC_FIN=0.4710;ExAC_NFE=0.4306;ExAC_OTH=0.3486;ExAC_SAS=0.2670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3534;gnomAD_exome_AFR=0.0903;gnomAD_exome_AMR=0.3173;gnomAD_exome_ASJ=0.3429;gnomAD_exome_EAS=0.2037;gnomAD_exome_FIN=0.4626;gnomAD_exome_NFE=0.4274;gnomAD_exome_OTH=0.3712;gnomAD_exome_SAS=0.2623;gnomAD_genome_ALL=0.3343;gnomAD_genome_AFR=0.1040;gnomAD_genome_AMR=0.3381;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2038;gnomAD_genome_FIN=0.4653;gnomAD_genome_NFE=0.4482;gnomAD_genome_OTH=0.3898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1348:706:20546:620:18049:-994.385,0,-1255.08 -chr1 228525627 . C A 4193.88 . AB=0.395288;ABP=112.152;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=1146;DPB=1146;DPRA=0;EPP=48.1127;EPPR=95.5898;GTI=0;LEN=1;MEANALT=3;MQM=34.4658;MQMR=33.1994;NS=1;NUMALT=1;ODDS=965.677;PAIRED=0.949227;PAIREDR=0.957704;PAO=0;PQA=0;PQR=0;PRO=0;QA=9689;QR=18203;RO=662;RPL=157;RPP=95.6262;RPPR=106.939;RPR=296;RUN=1;SAF=261;SAP=25.8323;SAR=192;SRF=405;SRP=74.8591;SRR=257;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;1000g2015aug_all=0.240216;avsnp147=rs1757127;Kaviar_AF=0.337945;Kaviar_AC=52247;Kaviar_AN=154602;ExAC_ALL=0.3887;ExAC_AFR=0.1188;ExAC_AMR=0.3531;ExAC_EAS=0.2612;ExAC_FIN=0.4964;ExAC_NFE=0.4565;ExAC_OTH=0.3757;ExAC_SAS=0.2885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3489;gnomAD_exome_AFR=0.0872;gnomAD_exome_AMR=0.3144;gnomAD_exome_ASJ=0.3397;gnomAD_exome_EAS=0.2014;gnomAD_exome_FIN=0.4597;gnomAD_exome_NFE=0.4218;gnomAD_exome_OTH=0.3695;gnomAD_exome_SAS=0.2596;gnomAD_genome_ALL=0.3329;gnomAD_genome_AFR=0.1034;gnomAD_genome_AMR=0.3397;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4463;gnomAD_genome_OTH=0.3873;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1146:662:18203:453:9689:-452.051,0,-1063.67 -chr1 228526665 . T C 12273.1 . AB=0.476402;ABP=11.7215;AC=1;AF=0.5;AN=2;AO=858;CIGAR=1X;DP=1801;DPB=1801;DPRA=0;EPP=148.787;EPPR=96.1102;GTI=0;LEN=1;MEANALT=3;MQM=30.6457;MQMR=33.3634;NS=1;NUMALT=1;ODDS=2759.8;PAIRED=0.829837;PAIREDR=0.877672;PAO=0;PQA=0;PQR=0;PRO=0;QA=23931;QR=22449;RO=842;RPL=489;RPP=39.4546;RPPR=77.5418;RPR=369;RUN=1;SAF=348;SAP=69.43;SAR=510;SRF=342;SRP=67.3911;SRR=500;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;cytoBand=1q42.13;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;1000g2015aug_all=0.494409;avsnp147=rs505629;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;ExAC_ALL=0.4897;ExAC_AFR=0.5232;ExAC_AMR=0.4073;ExAC_EAS=0.6021;ExAC_FIN=0.7303;ExAC_NFE=0.5318;ExAC_OTH=0.4111;ExAC_SAS=0.4261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.5031;gnomAD_exome_AMR=0.3851;gnomAD_exome_ASJ=0.4227;gnomAD_exome_EAS=0.5470;gnomAD_exome_FIN=0.6421;gnomAD_exome_NFE=0.5179;gnomAD_exome_OTH=0.4652;gnomAD_exome_SAS=0.3991;gnomAD_genome_ALL=0.5405;gnomAD_genome_AFR=0.5105;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.4437;gnomAD_genome_EAS=0.5286;gnomAD_genome_FIN=0.6411;gnomAD_genome_NFE=0.5447;gnomAD_genome_OTH=0.5503;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1801:842:22449:858:23931:-1260.84,0,-1230.34 -chr1 228528412 . G A 418.511 . AB=0.374449;ABP=34.0901;AC=1;AF=0.5;AN=2;AO=85;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=4.26209;EPPR=9.18275;GTI=0;LEN=1;MEANALT=3;MQM=27.4941;MQMR=32.4488;NS=1;NUMALT=1;ODDS=96.3658;PAIRED=0.952941;PAIREDR=0.952756;PAO=0;PQA=0;PQR=0;PRO=0;QA=2109;QR=3778;RO=127;RPL=0;RPP=187.585;RPPR=278.787;RPR=85;RUN=1;SAF=39;SAP=4.26209;SAR=46;SRF=54;SRP=9.18275;SRR=73;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;1000g2015aug_all=0.351837;avsnp147=rs1150916;Kaviar_AF=0.371625;Kaviar_AC=57454;Kaviar_AN=154602;ExAC_ALL=0.3916;ExAC_AFR=0.4236;ExAC_AMR=0.3311;ExAC_EAS=0.2294;ExAC_FIN=0.4811;ExAC_NFE=0.4383;ExAC_OTH=0.3570;ExAC_SAS=0.2760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3777;gnomAD_exome_AFR=0.4002;gnomAD_exome_AMR=0.3341;gnomAD_exome_ASJ=0.3539;gnomAD_exome_EAS=0.2140;gnomAD_exome_FIN=0.463;gnomAD_exome_NFE=0.4300;gnomAD_exome_OTH=0.3832;gnomAD_exome_SAS=0.2638;gnomAD_genome_ALL=0.4214;gnomAD_genome_AFR=0.4076;gnomAD_genome_AMR=0.3520;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.2120;gnomAD_genome_FIN=0.4634;gnomAD_genome_NFE=0.4487;gnomAD_genome_OTH=0.4041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:227:127:3778:85:2109:-74.8864,0,-219.789 -chr1 228528563 . C G 7286.92 . AB=0.483348;ABP=5.8308;AC=1;AF=0.5;AN=2;AO=566;CIGAR=1X;DP=1171;DPB=1171;DPRA=0;EPP=22.8988;EPPR=30.0477;GTI=0;LEN=1;MEANALT=3;MQM=28.0212;MQMR=31.9259;NS=1;NUMALT=1;ODDS=1677.87;PAIRED=0.816254;PAIREDR=0.843434;PAO=0;PQA=0;PQR=0;PRO=0;QA=15971;QR=18465;RO=594;RPL=339;RPP=51.1357;RPPR=44.0855;RPR=227;RUN=1;SAF=294;SAP=4.86718;SAR=272;SRF=300;SRP=3.1419;SRR=294;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;cytoBand=1q42.13;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;1000g2015aug_all=0.538738;avsnp147=rs1188710;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;ExAC_ALL=0.5468;ExAC_AFR=0.6367;ExAC_AMR=0.48;ExAC_EAS=0.6102;ExAC_FIN=0.6691;ExAC_NFE=0.5577;ExAC_OTH=0.5109;ExAC_SAS=0.4379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.735;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=0.194;CADD_phred=4.616;DANN_score=0.904;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.947;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.593;SiPhy_29way_logOdds=14.134;hgmdPRO=.;gnomAD_exome_ALL=0.5075;gnomAD_exome_AFR=0.5969;gnomAD_exome_AMR=0.4328;gnomAD_exome_ASJ=0.4296;gnomAD_exome_EAS=0.5750;gnomAD_exome_FIN=0.6419;gnomAD_exome_NFE=0.5185;gnomAD_exome_OTH=0.4906;gnomAD_exome_SAS=0.4122;gnomAD_genome_ALL=0.5708;gnomAD_genome_AFR=0.6004;gnomAD_genome_AMR=0.4532;gnomAD_genome_ASJ=0.4636;gnomAD_genome_EAS=0.5676;gnomAD_genome_FIN=0.6428;gnomAD_genome_NFE=0.5473;gnomAD_genome_OTH=0.5491;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1171:594:18465:566:15971:-743.905,0,-999.261 -chr1 228547901 . C T 1611.55 . AB=0.456647;ABP=8.65864;AC=1;AF=0.5;AN=2;AO=158;CIGAR=1X;DP=346;DPB=346;DPRA=0;EPP=13.7852;EPPR=6.59633;GTI=0;LEN=1;MEANALT=3;MQM=27.6519;MQMR=30.3486;NS=1;NUMALT=1;ODDS=371.074;PAIRED=0.981013;PAIREDR=0.994286;PAO=0;PQA=0;PQR=0;PRO=0;QA=3891;QR=5364;RO=175;RPL=89;RPP=8.5077;RPPR=4.51172;RPR=69;RUN=1;SAF=102;SAP=32.0915;SAR=56;SRF=87;SRP=3.02271;SRR=88;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;cytoBand=1q42.13;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;1000g2015aug_all=0.298722;avsnp147=rs12035900;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;ExAC_ALL=0.3126;ExAC_AFR=0.1635;ExAC_AMR=0.3209;ExAC_EAS=0.2866;ExAC_FIN=0.2343;ExAC_NFE=0.2981;ExAC_OTH=0.3509;ExAC_SAS=0.4932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3116;gnomAD_exome_AFR=0.1610;gnomAD_exome_AMR=0.3073;gnomAD_exome_ASJ=0.3537;gnomAD_exome_EAS=0.2860;gnomAD_exome_FIN=0.2291;gnomAD_exome_NFE=0.2996;gnomAD_exome_OTH=0.3208;gnomAD_exome_SAS=0.4928;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.1590;gnomAD_genome_AMR=0.2864;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.3151;gnomAD_genome_FIN=0.2196;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.3002;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:346:175:5364:158:3891:-172.853,0,-279.315 -chr1 228556788 . C T 11415.9 . AB=0.469096;ABP=15.7608;AC=1;AF=0.5;AN=2;AO=721;CIGAR=1X;DP=1537;DPB=1537;DPRA=0;EPP=41.4673;EPPR=34.1423;GTI=0;LEN=1;MEANALT=3;MQM=32.7656;MQMR=34.9324;NS=1;NUMALT=1;ODDS=2628.6;PAIRED=0.850208;PAIREDR=0.875163;PAO=0;PQA=0;PQR=0;PRO=0;QA=21302;QR=23974;RO=769;RPL=373;RPP=4.89264;RPPR=4.25558;RPR=348;RUN=1;SAF=370;SAP=4.09754;SAR=351;SRF=364;SRP=7.75704;SRR=405;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;1000g2015aug_all=0.320487;avsnp147=rs3738685;Kaviar_AF=0.326147;Kaviar_AC=50423;Kaviar_AN=154602;ExAC_ALL=0.3818;ExAC_AFR=0.2469;ExAC_AMR=0.3053;ExAC_EAS=0.3030;ExAC_FIN=0.3070;ExAC_NFE=0.3910;ExAC_OTH=0.4111;ExAC_SAS=0.5104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3506;gnomAD_exome_AFR=0.2308;gnomAD_exome_AMR=0.2704;gnomAD_exome_ASJ=0.3827;gnomAD_exome_EAS=0.2724;gnomAD_exome_FIN=0.2836;gnomAD_exome_NFE=0.3722;gnomAD_exome_OTH=0.3601;gnomAD_exome_SAS=0.4958;gnomAD_genome_ALL=0.3095;gnomAD_genome_AFR=0.2317;gnomAD_genome_AMR=0.2727;gnomAD_genome_ASJ=0.3742;gnomAD_genome_EAS=0.2949;gnomAD_genome_FIN=0.2786;gnomAD_genome_NFE=0.3616;gnomAD_genome_OTH=0.3532;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1537:769:23974:721:21302:-1154.34,0,-1428.67 -chr1 228559994 . C T 3352.68 . AB=0.441791;ABP=22.7286;AC=1;AF=0.5;AN=2;AO=296;CIGAR=1X;DP=670;DPB=670;DPRA=0;EPP=9.61275;EPPR=39.5143;GTI=0;LEN=1;MEANALT=3;MQM=28.8108;MQMR=31.3912;NS=1;NUMALT=1;ODDS=771.983;PAIRED=0.888514;PAIREDR=0.908517;PAO=0;PQA=0;PQR=0;PRO=0;QA=7402;QR=9634;RO=317;RPL=116;RPP=33.0588;RPPR=12.388;RPR=180;RUN=1;SAF=177;SAP=27.6888;SAR=119;SRF=148;SRP=6.03118;SRR=169;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;cytoBand=1q42.13;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;1000g2015aug_all=0.589058;avsnp147=rs500049;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;ExAC_ALL=0.6192;ExAC_AFR=0.7076;ExAC_AMR=0.5245;ExAC_EAS=0.6578;ExAC_FIN=0.6214;ExAC_NFE=0.5975;ExAC_OTH=0.5802;ExAC_SAS=0.6561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.0;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.216;CADD_raw=2.792;CADD_phred=21.3;DANN_score=0.952;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=3.71;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.317;SiPhy_29way_logOdds=11.612;hgmdPRO=.;gnomAD_exome_ALL=0.5171;gnomAD_exome_AFR=0.6595;gnomAD_exome_AMR=0.3581;gnomAD_exome_ASJ=0.5071;gnomAD_exome_EAS=0.5798;gnomAD_exome_FIN=0.4912;gnomAD_exome_NFE=0.5120;gnomAD_exome_OTH=0.5032;gnomAD_exome_SAS=0.6395;gnomAD_genome_ALL=0.5371;gnomAD_genome_AFR=0.6375;gnomAD_genome_AMR=0.3556;gnomAD_genome_ASJ=0.5099;gnomAD_genome_EAS=0.5743;gnomAD_genome_FIN=0.4837;gnomAD_genome_NFE=0.4981;gnomAD_genome_OTH=0.5326;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.163612;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:670:317:9634:296:7402:-349.071,0,-523.067 -chr1 228560139 . A G 16379.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=893;CIGAR=1X;DP=923;DPB=923;DPRA=0;EPP=67.6171;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=26.9216;MQMR=29;NS=1;NUMALT=1;ODDS=1193.34;PAIRED=0.87682;PAIREDR=0.333333;PAO=0;PQA=0;PQR=0;PRO=0;QA=24818;QR=159;RO=6;RPL=319;RPP=161.129;RPPR=4.45795;RPR=574;RUN=1;SAF=446;SAP=3.01273;SAR=447;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;cytoBand=1q42.13;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;1000g2015aug_all=0.974241;avsnp147=rs498382;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;ExAC_ALL=0.9502;ExAC_AFR=0.9863;ExAC_AMR=0.9606;ExAC_EAS=1;ExAC_FIN=0.8924;ExAC_NFE=0.9239;ExAC_OTH=0.9512;ExAC_SAS=0.9881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9435;gnomAD_exome_AFR=0.9862;gnomAD_exome_AMR=0.9593;gnomAD_exome_ASJ=0.9300;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.8939;gnomAD_exome_NFE=0.9205;gnomAD_exome_OTH=0.9375;gnomAD_exome_SAS=0.9890;gnomAD_genome_ALL=0.9416;gnomAD_genome_AFR=0.9855;gnomAD_genome_AMR=0.9618;gnomAD_genome_ASJ=0.9233;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.8966;gnomAD_genome_NFE=0.9202;gnomAD_genome_OTH=0.9293;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:923:6:159:893:24818:-1663.54,-258.853,0 -chr1 228560700 . T C 9045.93 . AB=0.455432;ABP=27.7857;AC=1;AF=0.5;AN=2;AO=654;CIGAR=1X;DP=1436;DPB=1436;DPRA=0;EPP=9.43839;EPPR=7.28763;GTI=0;LEN=1;MEANALT=3;MQM=30.9144;MQMR=33.0432;NS=1;NUMALT=1;ODDS=2082.9;PAIRED=0.915902;PAIREDR=0.869065;PAO=0;PQA=0;PQR=0;PRO=0;QA=18034;QR=17763;RO=695;RPL=393;RPP=60.8631;RPPR=126.74;RPR=261;RUN=1;SAF=256;SAP=69.9607;SAR=398;SRF=300;SRP=31.2082;SRR=395;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;cytoBand=1q42.13;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;1000g2015aug_all=0.757987;avsnp147=rs512253;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;ExAC_ALL=0.6317;ExAC_AFR=0.8887;ExAC_AMR=0.6755;ExAC_EAS=0.7978;ExAC_FIN=0.5118;ExAC_NFE=0.5550;ExAC_OTH=0.648;ExAC_SAS=0.7625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6322;gnomAD_exome_AFR=0.8877;gnomAD_exome_AMR=0.6671;gnomAD_exome_ASJ=0.6456;gnomAD_exome_EAS=0.8000;gnomAD_exome_FIN=0.5089;gnomAD_exome_NFE=0.5490;gnomAD_exome_OTH=0.6110;gnomAD_exome_SAS=0.7576;gnomAD_genome_ALL=0.6472;gnomAD_genome_AFR=0.8718;gnomAD_genome_AMR=0.6411;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.8073;gnomAD_genome_FIN=0.5069;gnomAD_genome_NFE=0.5350;gnomAD_genome_OTH=0.6006;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1436:695:17763:654:18034:-926.241,0,-952.93 -chr1 236882303 . T C 29547.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1378;CIGAR=1X;DP=1422;DPB=1422;DPRA=0;EPP=9.46484;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=36.6509;MQMR=28.4;NS=1;NUMALT=1;ODDS=1875.67;PAIRED=0.958636;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=37566;QR=110;RO=5;RPL=1084;RPP=986.476;RPPR=6.91895;RPR=294;RUN=1;SAF=499;SAP=230.558;SAR=879;SRF=3;SRP=3.44459;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;cytoBand=1q43;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;1000g2015aug_all=0.992612;avsnp147=rs1341864;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;ExAC_ALL=0.9979;ExAC_AFR=0.9772;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9984;gnomAD_exome_AFR=0.9784;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9933;gnomAD_genome_AFR=0.9767;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1422:5:110:1378:37566:-3085.81,-407.772,0 -chr1 236894647 . G A 19786.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=789;CIGAR=1X;DP=798;DPB=798;DPRA=0;EPP=12.5906;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=39.6616;MQMR=41.5;NS=1;NUMALT=1;ODDS=1057.49;PAIRED=0.973384;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24289;QR=140;RO=4;RPL=621;RPP=567.783;RPPR=5.18177;RPR=168;RUN=1;SAF=257;SAP=211.144;SAR=532;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;1000g2015aug_all=0.491613;avsnp147=rs819640;Kaviar_AF=0.375403;Kaviar_AC=58038;Kaviar_AN=154602;ExAC_ALL=0.3882;ExAC_AFR=0.5668;ExAC_AMR=0.3970;ExAC_EAS=0.5539;ExAC_FIN=0.2963;ExAC_NFE=0.3134;ExAC_OTH=0.3786;ExAC_SAS=0.5221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.5714;gnomAD_exome_AMR=0.3843;gnomAD_exome_ASJ=0.3670;gnomAD_exome_EAS=0.5485;gnomAD_exome_FIN=0.2945;gnomAD_exome_NFE=0.3086;gnomAD_exome_OTH=0.3676;gnomAD_exome_SAS=0.5225;gnomAD_genome_ALL=0.3865;gnomAD_genome_AFR=0.5585;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.5471;gnomAD_genome_FIN=0.2978;gnomAD_genome_NFE=0.2938;gnomAD_genome_OTH=0.3487;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:798:4:140:789:24289:-2063.1,-226.349,0 -chr1 236899042 . G A 26421.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1175;CIGAR=1X;DP=1257;DPB=1257;DPRA=0;EPP=8.20151;EPPR=10.2485;GTI=0;LEN=1;MEANALT=3;MQM=37.6647;MQMR=36.2667;NS=1;NUMALT=1;ODDS=1412.48;PAIRED=0.948085;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=33360;QR=715;RO=30;RPL=904;RPP=743.508;RPPR=31.9633;RPR=271;RUN=1;SAF=476;SAP=94.9126;SAR=699;SRF=17;SRP=4.16842;SRR=13;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;1000g2015aug_all=0.195887;avsnp147=rs2288600;Kaviar_AF=0.15646;Kaviar_AC=24189;Kaviar_AN=154602;ExAC_ALL=0.1667;ExAC_AFR=0.2034;ExAC_AMR=0.2191;ExAC_EAS=0.1983;ExAC_FIN=0.1389;ExAC_NFE=0.1386;ExAC_OTH=0.1448;ExAC_SAS=0.2160;CLNALLELEID=172789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1615;gnomAD_exome_AFR=0.2020;gnomAD_exome_AMR=0.2027;gnomAD_exome_ASJ=0.1196;gnomAD_exome_EAS=0.1881;gnomAD_exome_FIN=0.1408;gnomAD_exome_NFE=0.1341;gnomAD_exome_OTH=0.1437;gnomAD_exome_SAS=0.2122;gnomAD_genome_ALL=0.1547;gnomAD_genome_AFR=0.1984;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.1926;gnomAD_genome_FIN=0.1466;gnomAD_genome_NFE=0.1276;gnomAD_genome_OTH=0.1324;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1257:30:715:1175:33360:-2728.45,-302.157,0 -chr1 236925844 . G A 24765.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1074;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=207.468;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=36.5;MQMR=34.75;NS=1;NUMALT=1;ODDS=1389.11;PAIRED=0.874302;PAIREDR=0.916667;PAO=0;PQA=0;PQR=0;PRO=0;QA=31258;QR=367;RO=12;RPL=636;RPP=82.2751;RPPR=3.73412;RPR=438;RUN=1;SAF=468;SAP=41.5145;SAR=606;SRF=7;SRP=3.73412;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;cytoBand=1q43;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;1000g2015aug_all=0.196086;avsnp147=rs12063382;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;ExAC_ALL=0.1688;ExAC_AFR=0.1919;ExAC_AMR=0.2017;ExAC_EAS=0.1860;ExAC_FIN=0.2220;ExAC_NFE=0.1447;ExAC_OTH=0.1537;ExAC_SAS=0.1991;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1685;gnomAD_exome_AFR=0.1930;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0815;gnomAD_exome_EAS=0.1844;gnomAD_exome_FIN=0.2177;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1603;gnomAD_exome_SAS=0.2007;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1811;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.06;gnomAD_genome_EAS=0.1999;gnomAD_genome_FIN=0.2156;gnomAD_genome_NFE=0.1429;gnomAD_genome_OTH=0.1537;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1116:12:367:1074:31258:-2511.59,-299.741,0 -chr1 237551376 . T A 37019.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1520;CIGAR=1X;DP=1554;DPB=1554;DPRA=0;EPP=166.219;EPPR=17.2236;GTI=0;LEN=1;MEANALT=3;MQM=38.5605;MQMR=33.2273;NS=1;NUMALT=1;ODDS=1961.47;PAIRED=0.959868;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=44519;QR=409;RO=22;RPL=760;RPP=3.0103;RPPR=6.56362;RPR=760;RUN=1;SAF=815;SAP=20.2964;SAR=705;SRF=11;SRP=3.0103;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;1000g2015aug_all=0.55651;avsnp147=rs10754602;Kaviar_AF=0.558725;Kaviar_AC=86380;Kaviar_AN=154602;ExAC_ALL=0.5751;ExAC_AFR=0.4653;ExAC_AMR=0.7855;ExAC_EAS=0.6446;ExAC_FIN=0.5519;ExAC_NFE=0.5716;ExAC_OTH=0.5688;ExAC_SAS=0.4781;CLNALLELEID=52986;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5751;gnomAD_exome_AFR=0.4526;gnomAD_exome_AMR=0.7688;gnomAD_exome_ASJ=0.5472;gnomAD_exome_EAS=0.6348;gnomAD_exome_FIN=0.5357;gnomAD_exome_NFE=0.5652;gnomAD_exome_OTH=0.5813;gnomAD_exome_SAS=0.4630;gnomAD_genome_ALL=0.5325;gnomAD_genome_AFR=0.4675;gnomAD_genome_AMR=0.7446;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.6148;gnomAD_genome_FIN=0.5416;gnomAD_genome_NFE=0.5458;gnomAD_genome_OTH=0.5662;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1554:22:409:1520:44519:-3721.07,-430.594,0 -chr1 237617757 . C T 21174.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=874;CIGAR=1X;DP=911;DPB=911;DPRA=0;EPP=79.9709;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=37.6751;MQMR=32.75;NS=1;NUMALT=1;ODDS=1151.36;PAIRED=0.951945;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=25918;QR=225;RO=8;RPL=359;RPP=63.4736;RPPR=3.0103;RPR=515;RUN=1;SAF=414;SAP=8.26755;SAR=460;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;cytoBand=1q43;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;1000g2015aug_all=0.535743;avsnp147=rs3765097;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;ExAC_ALL=0.5755;ExAC_AFR=0.305;ExAC_AMR=0.6026;ExAC_EAS=0.7367;ExAC_FIN=0.5985;ExAC_NFE=0.5907;ExAC_OTH=0.5813;ExAC_SAS=0.5625;CLNALLELEID=52897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5819;gnomAD_exome_AFR=0.3052;gnomAD_exome_AMR=0.6039;gnomAD_exome_ASJ=0.5850;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.5915;gnomAD_exome_NFE=0.5953;gnomAD_exome_OTH=0.5683;gnomAD_exome_SAS=0.5589;gnomAD_genome_ALL=0.5238;gnomAD_genome_AFR=0.3184;gnomAD_genome_AMR=0.5897;gnomAD_genome_ASJ=0.6033;gnomAD_genome_EAS=0.7073;gnomAD_genome_FIN=0.5894;gnomAD_genome_NFE=0.5988;gnomAD_genome_OTH=0.5867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:911:8:225:874:25918:-2133.78,-248.736,0 -chr1 237620049 . T C 22374.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=986;CIGAR=1X;DP=1027;DPB=1027;DPRA=0;EPP=154.185;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=38.4929;MQMR=31.4286;NS=1;NUMALT=1;ODDS=1315.99;PAIRED=0.933063;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=27493;QR=156;RO=7;RPL=732;RPP=506.202;RPPR=5.80219;RPR=254;RUN=1;SAF=478;SAP=4.99237;SAR=508;SRF=2;SRP=5.80219;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;1000g2015aug_all=0.53115;avsnp147=rs2045955;Kaviar_AF=0.542658;Kaviar_AC=83896;Kaviar_AN=154602;ExAC_ALL=0.5514;ExAC_AFR=0.2931;ExAC_AMR=0.5917;ExAC_EAS=0.7990;ExAC_FIN=0.5796;ExAC_NFE=0.5449;ExAC_OTH=0.5580;ExAC_SAS=0.5618;CLNALLELEID=52921;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5567;gnomAD_exome_AFR=0.2935;gnomAD_exome_AMR=0.5882;gnomAD_exome_ASJ=0.5491;gnomAD_exome_EAS=0.7929;gnomAD_exome_FIN=0.5697;gnomAD_exome_NFE=0.5458;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.5555;gnomAD_genome_ALL=0.4984;gnomAD_genome_AFR=0.3107;gnomAD_genome_AMR=0.5624;gnomAD_genome_ASJ=0.57;gnomAD_genome_EAS=0.7823;gnomAD_genome_FIN=0.5657;gnomAD_genome_NFE=0.5521;gnomAD_genome_OTH=0.5643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1027:7:156:986:27493:-2308.01,-285.738,0 -chr1 237670140 . A G 5723.69 . AB=0.497823;ABP=3.03866;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=689;DPB=689;DPRA=0;EPP=12.6395;EPPR=37.7604;GTI=0;LEN=1;MEANALT=3;MQM=38.5714;MQMR=38.8829;NS=1;NUMALT=1;ODDS=1317.93;PAIRED=0.93586;PAIREDR=0.963964;PAO=0;PQA=0;PQR=0;PRO=0;QA=9256;QR=9855;RO=333;RPL=178;RPP=4.08021;RPPR=13.972;RPR=165;RUN=1;SAF=154;SAP=10.7656;SAR=189;SRF=137;SRP=25.7097;SRR=196;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;1000g2015aug_all=0.699481;avsnp147=rs2618702;Kaviar_AF=0.653497;Kaviar_AC=101032;Kaviar_AN=154602;ExAC_ALL=0.6804;ExAC_AFR=0.8394;ExAC_AMR=0.6534;ExAC_EAS=0.7145;ExAC_FIN=0.7363;ExAC_NFE=0.6691;ExAC_OTH=0.6991;ExAC_SAS=0.6048;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6670;gnomAD_exome_AFR=0.8409;gnomAD_exome_AMR=0.6317;gnomAD_exome_ASJ=0.5533;gnomAD_exome_EAS=0.7078;gnomAD_exome_FIN=0.7270;gnomAD_exome_NFE=0.6648;gnomAD_exome_OTH=0.6461;gnomAD_exome_SAS=0.6004;gnomAD_genome_ALL=0.7228;gnomAD_genome_AFR=0.8341;gnomAD_genome_AMR=0.6005;gnomAD_genome_ASJ=0.5695;gnomAD_genome_EAS=0.7191;gnomAD_genome_FIN=0.7370;gnomAD_genome_NFE=0.6682;gnomAD_genome_OTH=0.6748;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:689:333:9855:343:9256:-581.855,0,-623.151 -chr1 237711797 . A G 16335.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=649;CIGAR=1X;DP=666;DPB=666;DPRA=0;EPP=48.812;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.0293;MQMR=23;NS=1;NUMALT=1;ODDS=891.447;PAIRED=0.946071;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=19705;QR=50;RO=2;RPL=259;RPP=60.4288;RPPR=7.35324;RPR=390;RUN=1;SAF=326;SAP=3.04041;SAR=323;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;cytoBand=1q43;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;1000g2015aug_all=0.830272;avsnp147=rs2253273;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;ExAC_ALL=0.9262;ExAC_AFR=0.5994;ExAC_AMR=0.9575;ExAC_EAS=0.8849;ExAC_FIN=0.9710;ExAC_NFE=0.9594;ExAC_OTH=0.9499;ExAC_SAS=0.9663;CLNALLELEID=52932;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9329;gnomAD_exome_AFR=0.5968;gnomAD_exome_AMR=0.9564;gnomAD_exome_ASJ=0.9549;gnomAD_exome_EAS=0.8865;gnomAD_exome_FIN=0.9730;gnomAD_exome_NFE=0.9589;gnomAD_exome_OTH=0.9437;gnomAD_exome_SAS=0.9670;gnomAD_genome_ALL=0.8540;gnomAD_genome_AFR=0.6002;gnomAD_genome_AMR=0.9414;gnomAD_genome_ASJ=0.9603;gnomAD_genome_EAS=0.8838;gnomAD_genome_FIN=0.9762;gnomAD_genome_NFE=0.9567;gnomAD_genome_OTH=0.9450;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:666:2:50:649:19705:-1646.62,-192.699,0 -chr1 237753074 . ATTTTTTTTTTC ATTTTTTTTTC 4557.98 . AB=0.459098;ABP=11.7143;AC=1;AF=0.5;AN=2;AO=275;CIGAR=1M1D10M;DP=599;DPB=591.333;DPRA=0;EPP=3.6499;EPPR=3.71219;GTI=0;LEN=1;MEANALT=55;MQM=39.1745;MQMR=39.3131;NS=1;NUMALT=1;ODDS=778.444;PAIRED=0.985455;PAIREDR=0.959596;PAO=27;PQA=603.5;PQR=603.5;PRO=27;QA=7479;QR=6264;RO=198;RPL=91;RPP=71.3051;RPPR=91.8433;RPR=184;RUN=1;SAF=183;SAP=68.3993;SAR=92;SRF=121;SRP=24.2425;SRR=77;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;1000g2015aug_all=0.285144;avsnp147=rs11331089;Kaviar_AF=0.012005;Kaviar_AC=1856;Kaviar_AN=154602;ExAC_ALL=0.4622;ExAC_AFR=0.1557;ExAC_AMR=0.6425;ExAC_EAS=0.3421;ExAC_FIN=0.5085;ExAC_NFE=0.4969;ExAC_OTH=0.4763;ExAC_SAS=0.3795;CLNALLELEID=45402;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4554;gnomAD_exome_AFR=0.1343;gnomAD_exome_AMR=0.6095;gnomAD_exome_ASJ=0.4804;gnomAD_exome_EAS=0.3095;gnomAD_exome_FIN=0.5078;gnomAD_exome_NFE=0.4791;gnomAD_exome_OTH=0.4699;gnomAD_exome_SAS=0.3630;gnomAD_genome_ALL=0.3537;gnomAD_genome_AFR=0.1250;gnomAD_genome_AMR=0.5570;gnomAD_genome_ASJ=0.4467;gnomAD_genome_EAS=0.2506;gnomAD_genome_FIN=0.4796;gnomAD_genome_NFE=0.4511;gnomAD_genome_OTH=0.4165;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:599:198:6264:275:7479:-479.559,0,-359.346 -chr1 237814783 . C T 25784.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=981;CIGAR=1X;DP=996;DPB=996;DPRA=0;EPP=6.37708;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=40.2518;MQMR=42;NS=1;NUMALT=1;ODDS=1304.22;PAIRED=0.978593;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=30214;QR=184;RO=6;RPL=401;RPP=73.934;RPPR=3.0103;RPR=580;RUN=1;SAF=466;SAP=8.32498;SAR=515;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;cytoBand=1q43;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;1000g2015aug_all=0.554912;avsnp147=rs684923;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;ExAC_ALL=0.5198;ExAC_AFR=0.5164;ExAC_AMR=0.5646;ExAC_EAS=0.7888;ExAC_FIN=0.5098;ExAC_NFE=0.4739;ExAC_OTH=0.4895;ExAC_SAS=0.5243;CLNALLELEID=52996;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4755;gnomAD_exome_AFR=0.4743;gnomAD_exome_AMR=0.5052;gnomAD_exome_ASJ=0.3020;gnomAD_exome_EAS=0.7908;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4459;gnomAD_exome_SAS=0.4991;gnomAD_genome_ALL=0.4881;gnomAD_genome_AFR=0.5021;gnomAD_genome_AMR=0.4940;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.8125;gnomAD_genome_FIN=0.4991;gnomAD_genome_NFE=0.4477;gnomAD_genome_OTH=0.4603;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:996:6:184:981:30214:-2589.61,-280.761,0 -chr1 237863718 . T G 20429.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=968;CIGAR=1X;DP=1018;DPB=1018;DPRA=0;EPP=5.91756;EPPR=71.1757;GTI=0;LEN=1;MEANALT=2;MQM=34.4194;MQMR=28.8043;NS=1;NUMALT=1;ODDS=1117.37;PAIRED=0.938017;PAIREDR=0.891304;PAO=0;PQA=0;PQR=0;PRO=0;QA=26479;QR=796;RO=46;RPL=636;RPP=210.323;RPPR=21.8927;RPR=332;RUN=1;SAF=450;SAP=13.3831;SAR=518;SRF=11;SRP=30.2009;SRR=35;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;cytoBand=1q43;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;1000g2015aug_all=0.969249;avsnp147=rs2797436;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;ExAC_ALL=0.9917;ExAC_AFR=0.9080;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9954;ExAC_SAS=0.9992;CLNALLELEID=53005;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9928;gnomAD_exome_AFR=0.9020;gnomAD_exome_AMR=0.9953;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9994;gnomAD_exome_OTH=0.9937;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9715;gnomAD_genome_AFR=0.9005;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9993;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1018:46:796:968:26479:-2054.96,-242.913,0 -chr1 237881770 . C T 26619.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1037;CIGAR=1X;DP=1045;DPB=1045;DPRA=0;EPP=76.2352;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=40.459;MQMR=42;NS=1;NUMALT=1;ODDS=1431.39;PAIRED=0.969142;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=31026;QR=36;RO=1;RPL=383;RPP=156.795;RPPR=5.18177;RPR=654;RUN=1;SAF=526;SAP=3.48145;SAR=511;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;cytoBand=1q43;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960463;avsnp147=rs2797441;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;ExAC_ALL=0.9886;ExAC_AFR=0.8706;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52868;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8686;gnomAD_exome_AMR=0.9949;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9917;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9623;gnomAD_genome_AFR=0.8678;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1045:1:36:1037:31026:-2688.8,-309.29,0 -chr1 237893674 . C T 24563.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1110;CIGAR=1X;DP=1144;DPB=1144;DPRA=0;EPP=48.2082;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=40.1523;MQMR=32;NS=1;NUMALT=1;ODDS=1529.89;PAIRED=0.981982;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=29748;QR=28;RO=2;RPL=772;RPP=371.488;RPPR=3.0103;RPR=338;RUN=1;SAF=255;SAP=707.272;SAR=855;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.9854;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9854;esp6500siv2_ea=0.9998;1000g2015aug_all=0.985224;avsnp147=rs2797445;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.9954;ExAC_AFR=0.9473;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9966;ExAC_SAS=0.9999;CLNALLELEID=195829;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9464;gnomAD_exome_AMR=0.9979;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9853;gnomAD_genome_AFR=0.9485;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1144:2:28:1110:29748:-2576.65,-332.262,0 -chr1 237905568 . TCC TCCC 543.536 . AB=0.229614;ABP=298.927;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1M1I2M;DP=466;DPB=507.667;DPRA=0;EPP=4.65412;EPPR=19.3988;GTI=0;LEN=1;MEANALT=32;MQM=29.0093;MQMR=31.066;NS=1;NUMALT=1;ODDS=125.154;PAIRED=0.981308;PAIREDR=0.976415;PAO=1;PQA=0;PQR=0;PRO=1;QA=2178;QR=5938;RO=212;RPL=61;RPP=7.57648;RPPR=9.93443;RPR=46;RUN=1;SAF=96;SAP=149.635;SAR=11;SRF=187;SRP=271.822;SRR=25;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:466:212:5938:107:2178:-85.8891,0,-335.311 -chr1 237923053 . C T 9416.69 . AB=0.490548;ABP=3.83127;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=1058;DPB=1058;DPRA=0;EPP=266.604;EPPR=228.504;GTI=0;LEN=1;MEANALT=3;MQM=40.4605;MQMR=40.7545;NS=1;NUMALT=1;ODDS=2168.27;PAIRED=0.988439;PAIREDR=0.976238;PAO=0;PQA=0;PQR=0;PRO=0;QA=14774;QR=14791;RO=505;RPL=238;RPP=10.7464;RPPR=5.69777;RPR=281;RUN=1;SAF=274;SAP=6.52901;SAR=245;SRF=256;SRP=3.221;SRR=249;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;1000g2015aug_all=0.761581;avsnp147=rs2253831;Kaviar_AF=0.69688;Kaviar_AC=107739;Kaviar_AN=154602;ExAC_ALL=0.7109;ExAC_AFR=0.7998;ExAC_AMR=0.7357;ExAC_EAS=0.7763;ExAC_FIN=0.7446;ExAC_NFE=0.6849;ExAC_OTH=0.7222;ExAC_SAS=0.6978;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7134;gnomAD_exome_AFR=0.8010;gnomAD_exome_AMR=0.7381;gnomAD_exome_ASJ=0.7137;gnomAD_exome_EAS=0.7783;gnomAD_exome_FIN=0.7392;gnomAD_exome_NFE=0.6833;gnomAD_exome_OTH=0.7127;gnomAD_exome_SAS=0.6973;gnomAD_genome_ALL=0.7296;gnomAD_genome_AFR=0.7983;gnomAD_genome_AMR=0.7602;gnomAD_genome_ASJ=0.7053;gnomAD_genome_EAS=0.7803;gnomAD_genome_FIN=0.7470;gnomAD_genome_NFE=0.6808;gnomAD_genome_OTH=0.7004;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1058:505:14791:519:14774:-978.245,0,-981.811 -chr1 237951451 . A G 10065.3 . AB=0.509548;ABP=3.79814;AC=1;AF=0.5;AN=2;AO=507;CIGAR=1X;DP=995;DPB=995;DPRA=0;EPP=3.97397;EPPR=17.8009;GTI=0;LEN=1;MEANALT=3;MQM=39.4024;MQMR=39.4046;NS=1;NUMALT=1;ODDS=2184.32;PAIRED=0.976331;PAIREDR=0.966457;PAO=0;PQA=0;PQR=0;PRO=0;QA=15777;QR=15115;RO=477;RPL=349;RPP=159.258;RPPR=194.323;RPR=158;RUN=1;SAF=159;SAP=156.003;SAR=348;SRF=173;SRP=81.1332;SRR=304;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;1000g2015aug_all=0.636581;avsnp147=rs2256242;Kaviar_AF=0.549178;Kaviar_AC=84904;Kaviar_AN=154602;ExAC_ALL=0.5750;ExAC_AFR=0.7756;ExAC_AMR=0.4468;ExAC_EAS=0.6762;ExAC_FIN=0.5189;ExAC_NFE=0.5490;ExAC_OTH=0.6012;ExAC_SAS=0.6129;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5568;gnomAD_exome_AFR=0.7715;gnomAD_exome_AMR=0.4487;gnomAD_exome_ASJ=0.6154;gnomAD_exome_EAS=0.6697;gnomAD_exome_FIN=0.5157;gnomAD_exome_NFE=0.5343;gnomAD_exome_OTH=0.5459;gnomAD_exome_SAS=0.6003;gnomAD_genome_ALL=0.6090;gnomAD_genome_AFR=0.7662;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.6894;gnomAD_genome_FIN=0.5272;gnomAD_genome_NFE=0.5375;gnomAD_genome_OTH=0.5723;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:995:477:15115:507:15777:-1046.39,0,-985.844 -chr1 237957146 . G A 7234.88 . AB=0.46841;ABP=10.9676;AC=1;AF=0.5;AN=2;AO=430;CIGAR=1X;DP=918;DPB=918;DPRA=0;EPP=225.712;EPPR=174.741;GTI=0;LEN=1;MEANALT=3;MQM=39.1767;MQMR=41.0318;NS=1;NUMALT=1;ODDS=1665.89;PAIRED=0.97907;PAIREDR=0.96603;PAO=0;PQA=0;PQR=0;PRO=0;QA=12180;QR=13899;RO=471;RPL=165;RPP=53.5097;RPPR=192.998;RPR=265;RUN=1;SAF=261;SAP=45.753;SAR=169;SRF=247;SRP=5.44917;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;1000g2015aug_all=0.734026;avsnp147=rs790902;Kaviar_AF=0.676544;Kaviar_AC=104595;Kaviar_AN=154602;ExAC_ALL=0.7134;ExAC_AFR=0.5567;ExAC_AMR=0.8266;ExAC_EAS=0.9371;ExAC_FIN=0.6880;ExAC_NFE=0.6639;ExAC_OTH=0.7035;ExAC_SAS=0.8241;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7112;gnomAD_exome_AFR=0.5425;gnomAD_exome_AMR=0.8138;gnomAD_exome_ASJ=0.6171;gnomAD_exome_EAS=0.9422;gnomAD_exome_FIN=0.6813;gnomAD_exome_NFE=0.6539;gnomAD_exome_OTH=0.6830;gnomAD_exome_SAS=0.8223;gnomAD_genome_ALL=0.6573;gnomAD_genome_AFR=0.5506;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.9561;gnomAD_genome_FIN=0.6647;gnomAD_genome_NFE=0.6755;gnomAD_genome_OTH=0.6906;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:918:471:13899:430:12180:-764.289,0,-945.159 -chr1 237957161 . A G 9232.09 . AB=0.484609;ABP=5.34984;AC=1;AF=0.5;AN=2;AO=551;CIGAR=1X;DP=1137;DPB=1137;DPRA=0;EPP=168.629;EPPR=104.413;GTI=0;LEN=1;MEANALT=3;MQM=39.4211;MQMR=40.4786;NS=1;NUMALT=1;ODDS=2125.77;PAIRED=0.980036;PAIREDR=0.960854;PAO=0;PQA=0;PQR=0;PRO=0;QA=15203;QR=15890;RO=562;RPL=156;RPP=228.122;RPPR=256.23;RPR=395;RUN=1;SAF=289;SAP=5.88326;SAR=262;SRF=283;SRP=3.07212;SRR=279;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;1000g2015aug_all=0.757588;avsnp147=rs790901;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;ExAC_ALL=0.7399;ExAC_AFR=0.5959;ExAC_AMR=0.8436;ExAC_EAS=0.9441;ExAC_FIN=0.7158;ExAC_NFE=0.6873;ExAC_OTH=0.7238;ExAC_SAS=0.8658;CLNALLELEID=52900;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7376;gnomAD_exome_AFR=0.5866;gnomAD_exome_AMR=0.8267;gnomAD_exome_ASJ=0.6537;gnomAD_exome_EAS=0.9471;gnomAD_exome_FIN=0.7089;gnomAD_exome_NFE=0.6791;gnomAD_exome_OTH=0.7018;gnomAD_exome_SAS=0.8621;gnomAD_genome_ALL=0.6830;gnomAD_genome_AFR=0.5929;gnomAD_genome_AMR=0.8091;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.9580;gnomAD_genome_FIN=0.6922;gnomAD_genome_NFE=0.6941;gnomAD_genome_OTH=0.7182;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1137:562:15890:551:15203:-971.713,0,-1042.68 -chr1 237957309 . A C 7445.14 . AB=0.469363;ABP=9.6631;AC=1;AF=0.5;AN=2;AO=383;CIGAR=1X;DP=816;DPB=816;DPRA=0;EPP=36.6256;EPPR=202.847;GTI=0;LEN=1;MEANALT=3;MQM=39.9426;MQMR=40.4507;NS=1;NUMALT=1;ODDS=1714.31;PAIRED=0.976501;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=11629;QR=13031;RO=426;RPL=169;RPP=14.4913;RPPR=22.6045;RPR=214;RUN=1;SAF=162;SAP=22.7463;SAR=221;SRF=184;SRP=20.1578;SRR=242;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;1000g2015aug_all=0.750799;avsnp147=rs790900;Kaviar_AF=0.709325;Kaviar_AC=109663;Kaviar_AN=154602;ExAC_ALL=0.7273;ExAC_AFR=0.6015;ExAC_AMR=0.8362;ExAC_EAS=0.9444;ExAC_FIN=0.7098;ExAC_NFE=0.6717;ExAC_OTH=0.7081;ExAC_SAS=0.8434;CLNALLELEID=52901;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7319;gnomAD_exome_AFR=0.5987;gnomAD_exome_AMR=0.8245;gnomAD_exome_ASJ=0.6529;gnomAD_exome_EAS=0.9468;gnomAD_exome_FIN=0.7076;gnomAD_exome_NFE=0.6715;gnomAD_exome_OTH=0.6948;gnomAD_exome_SAS=0.8460;gnomAD_genome_ALL=0.6803;gnomAD_genome_AFR=0.6020;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6755;gnomAD_genome_EAS=0.9579;gnomAD_genome_FIN=0.6896;gnomAD_genome_NFE=0.6851;gnomAD_genome_OTH=0.7122;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:816:426:13031:383:11629:-759.232,0,-886.959 -chr10 18439813 . C T 117.741 . AB=0.41048;ABP=18.9502;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=229;DPB=229;DPRA=0;EPP=207.129;EPPR=33.5919;GTI=0;LEN=1;MEANALT=3;MQM=21.3617;MQMR=27.1667;NS=1;NUMALT=1;ODDS=8.7847;PAIRED=0.819149;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=1393;QR=883;RO=48;RPL=55;RPP=8.9241;RPPR=61.6401;RPR=39;RUN=1;SAF=55;SAP=8.9241;SAR=39;SRF=17;SRP=11.8771;SRR=31;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_001167945:exon2:c.C38T:p.S13L,CACNB2:NM_201571:exon2:c.C38T:p.S13L,CACNB2:NM_201572:exon2:c.C38T:p.S13L,CACNB2:NM_201593:exon2:c.C122T:p.S41L,CACNB2:NM_201596:exon2:c.C122T:p.S41L,CACNB2:NM_201597:exon2:c.C122T:p.S41L;cytoBand=10p12.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779840568;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.36e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.376;SIFT_pred=T;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.083;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.48;CADD_raw=3.072;CADD_phred=22.4;DANN_score=0.995;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.447;MetaSVM_pred=T;MetaLR_score=0.329;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.766;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=18.620;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.589e-05;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:229:48:883:94:1393:-49.8642,0,-23.5387 -chr10 21074724 . T C 2973.61 . AB=0.493036;ABP=3.16152;AC=1;AF=0.5;AN=2;AO=177;CIGAR=1X;DP=359;DPB=359;DPRA=0;EPP=18.0389;EPPR=66.2842;GTI=0;LEN=1;MEANALT=3;MQM=38.4746;MQMR=39.0462;NS=1;NUMALT=1;ODDS=684.7;PAIRED=0.932203;PAIREDR=0.947977;PAO=0;PQA=0;PQR=0;PRO=0;QA=4995;QR=5320;RO=173;RPL=40;RPP=118.442;RPPR=66.2842;RPR=137;RUN=1;SAF=109;SAP=23.6332;SAR=68;SRF=100;SRP=12.1606;SRR=73;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;cytoBand=10p12.31;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;1000g2015aug_all=0.0666933;avsnp147=rs2296614;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;ExAC_ALL=0.0779;ExAC_AFR=0.1195;ExAC_AMR=0.1618;ExAC_EAS=0.0008;ExAC_FIN=0.0569;ExAC_NFE=0.0737;ExAC_OTH=0.0839;ExAC_SAS=0.0585;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.1219;gnomAD_exome_AMR=0.1558;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0583;gnomAD_genome_ALL=0.0830;gnomAD_genome_AFR=0.1155;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0510;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0743;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:359:173:5320:177:4995:-320.11,0,-345.597 -chr10 21112111 . A T 11175.5 . AB=0.535398;ABP=15.3089;AC=1;AF=0.5;AN=2;AO=605;CIGAR=1X;DP=1130;DPB=1130;DPRA=0;EPP=6.45953;EPPR=3.21297;GTI=0;LEN=1;MEANALT=1;MQM=39.9455;MQMR=41.1314;NS=1;NUMALT=1;ODDS=2195.48;PAIRED=0.991736;PAIREDR=0.99619;PAO=0;PQA=0;PQR=0;PRO=0;QA=17240;QR=15079;RO=525;RPL=232;RPP=74.3674;RPPR=71.8398;RPR=373;RUN=1;SAF=407;SAP=159.791;SAR=198;SRF=345;SRP=115.617;SRR=180;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;1000g2015aug_all=0.302117;avsnp147=rs11012353;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;ExAC_ALL=0.3235;ExAC_AFR=0.2168;ExAC_AMR=0.2654;ExAC_EAS=0.5266;ExAC_FIN=0.2365;ExAC_NFE=0.3146;ExAC_OTH=0.2891;ExAC_SAS=0.3921;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2940;gnomAD_exome_AFR=0.1889;gnomAD_exome_AMR=0.2543;gnomAD_exome_ASJ=0.3002;gnomAD_exome_EAS=0.4985;gnomAD_exome_FIN=0.2220;gnomAD_exome_NFE=0.2795;gnomAD_exome_OTH=0.2875;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.2580;gnomAD_genome_AFR=0.1968;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.5119;gnomAD_genome_FIN=0.2186;gnomAD_genome_NFE=0.2738;gnomAD_genome_OTH=0.2678;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1130:525:15079:605:17240:-1150.39,0,-981.106 -chr10 21120116 . A G 8888.25 . AB=0.479187;ABP=6.89709;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=1033;DPB=1033;DPRA=0;EPP=44.2858;EPPR=45.3644;GTI=0;LEN=1;MEANALT=3;MQM=37.9798;MQMR=39.0497;NS=1;NUMALT=1;ODDS=2046.6;PAIRED=0.951515;PAIREDR=0.959847;PAO=0;PQA=0;PQR=0;PRO=0;QA=14940;QR=16796;RO=523;RPL=193;RPP=55.13;RPPR=69.9772;RPR=302;RUN=1;SAF=359;SAP=221.162;SAR=136;SRF=380;SRP=236.221;SRR=143;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;1000g2015aug_all=0.46905;avsnp147=rs10491056;Kaviar_AF=0.379342;Kaviar_AC=58647;Kaviar_AN=154602;ExAC_ALL=0.3893;ExAC_AFR=0.6068;ExAC_AMR=0.3091;ExAC_EAS=0.5522;ExAC_FIN=0.2668;ExAC_NFE=0.3503;ExAC_OTH=0.3642;ExAC_SAS=0.4319;CLNALLELEID=54650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3846;gnomAD_exome_AFR=0.6098;gnomAD_exome_AMR=0.3134;gnomAD_exome_ASJ=0.4177;gnomAD_exome_EAS=0.5603;gnomAD_exome_FIN=0.2806;gnomAD_exome_NFE=0.3524;gnomAD_exome_OTH=0.3795;gnomAD_exome_SAS=0.4328;gnomAD_genome_ALL=0.4218;gnomAD_genome_AFR=0.6096;gnomAD_genome_AMR=0.3309;gnomAD_genome_ASJ=0.4735;gnomAD_genome_EAS=0.5752;gnomAD_genome_FIN=0.2744;gnomAD_genome_NFE=0.3394;gnomAD_genome_OTH=0.35;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1033:523:16796:495:14940:-928.892,0,-1104.37 -chr10 21141440 . AGG AG 3925.41 . AB=0.414669;ABP=47.8517;AC=1;AF=0.5;AN=2;AO=294;CIGAR=1M1D1M;DP=709;DPB=615;DPRA=0;EPP=135.633;EPPR=47.4553;GTI=0;LEN=1;MEANALT=15;MQM=36.4626;MQMR=38.4005;NS=1;NUMALT=1;ODDS=903.859;PAIRED=0.959184;PAIREDR=0.958656;PAO=7.5;PQA=41;PQR=41;PRO=7.5;QA=8027;QR=11746;RO=387;RPL=84;RPP=120.27;RPPR=69.6751;RPR=210;RUN=1;SAF=226;SAP=187.393;SAR=68;SRF=287;SRP=199.223;SRR=100;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:709:387:11746:294:8027:-447.974,0,-770.721 -chr10 21177156 . GAAAAAAAT GAAAAAAT 2407.51 . AB=0.396789;ABP=43.3519;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1M1D7M;DP=436;DPB=425.778;DPRA=0;EPP=28.4278;EPPR=85.6582;GTI=0;LEN=1;MEANALT=44;MQM=39.9017;MQMR=40.674;NS=1;NUMALT=1;ODDS=554.35;PAIRED=1;PAIREDR=0.98895;PAO=8.5;PQA=215;PQR=143;PRO=5.5;QA=4025;QR=5148;RO=181;RPL=102;RPP=15.0726;RPPR=8.30101;RPR=71;RUN=1;SAF=106;SAP=22.1017;SAR=67;SRF=112;SRP=25.1929;SRR=69;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;1000g2015aug_all=0.540535;avsnp147=rs67288319;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.6124;ExAC_AFR=0.5036;ExAC_AMR=0.5955;ExAC_EAS=0.4144;ExAC_FIN=0.7378;ExAC_NFE=0.6507;ExAC_OTH=0.6327;ExAC_SAS=0.5808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5983;gnomAD_exome_AFR=0.4860;gnomAD_exome_AMR=0.5908;gnomAD_exome_ASJ=0.5353;gnomAD_exome_EAS=0.3743;gnomAD_exome_FIN=0.7184;gnomAD_exome_NFE=0.6390;gnomAD_exome_OTH=0.5976;gnomAD_exome_SAS=0.5700;gnomAD_genome_ALL=0.5936;gnomAD_genome_AFR=0.4865;gnomAD_genome_AMR=0.5627;gnomAD_genome_ASJ=0.4901;gnomAD_genome_EAS=0.3377;gnomAD_genome_FIN=0.7246;gnomAD_genome_NFE=0.6549;gnomAD_genome_OTH=0.6321;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:436:181:5148:173:4025:-253.492,0,-341.176 -chr10 67726514 . A C 7596.31 . AB=0.430934;ABP=45.6033;AC=1;AF=0.5;AN=2;AO=443;CIGAR=1X;DP=1028;DPB=1028;DPRA=0;EPP=6.58367;EPPR=7.13723;GTI=0;LEN=1;MEANALT=3;MQM=39.3002;MQMR=40.0436;NS=1;NUMALT=1;ODDS=1749.12;PAIRED=0.986456;PAIREDR=0.970332;PAO=0;PQA=0;PQR=0;PRO=0;QA=12545;QR=17771;RO=573;RPL=227;RPP=3.60341;RPPR=3.10504;RPR=216;RUN=1;SAF=199;SAP=12.9363;SAR=244;SRF=225;SRP=60.344;SRR=348;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;1000g2015aug_all=0.352636;avsnp147=rs2105702;Kaviar_AF=0.334142;Kaviar_AC=51659;Kaviar_AN=154602;ExAC_ALL=0.3443;ExAC_AFR=0.3197;ExAC_AMR=0.5077;ExAC_EAS=0.4055;ExAC_FIN=0.3695;ExAC_NFE=0.3036;ExAC_OTH=0.3226;ExAC_SAS=0.3688;CLNALLELEID=503660;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3496;gnomAD_exome_AFR=0.3158;gnomAD_exome_AMR=0.4993;gnomAD_exome_ASJ=0.2568;gnomAD_exome_EAS=0.4065;gnomAD_exome_FIN=0.3665;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.3403;gnomAD_exome_SAS=0.3629;gnomAD_genome_ALL=0.3298;gnomAD_genome_AFR=0.3208;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.4109;gnomAD_genome_FIN=0.3633;gnomAD_genome_NFE=0.3127;gnomAD_genome_OTH=0.3231;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1028:573:17771:443:12545:-772.524,0,-1218.82 -chr10 68040325 . C T 8932.72 . AB=0.512911;ABP=4.24386;AC=1;AF=0.5;AN=2;AO=437;CIGAR=1X;DP=852;DPB=852;DPRA=0;EPP=49.764;EPPR=17.8377;GTI=0;LEN=1;MEANALT=3;MQM=40.5858;MQMR=40.2399;NS=1;NUMALT=1;ODDS=1825.16;PAIRED=0.981693;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=13409;QR=12249;RO=396;RPL=180;RPP=32.4718;RPPR=6.71716;RPR=257;RUN=1;SAF=216;SAP=3.13453;SAR=221;SRF=213;SRP=7.94546;SRR=183;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;cytoBand=10q21.3;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;1000g2015aug_all=0.485024;avsnp147=rs4548513;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;ExAC_ALL=0.4120;ExAC_AFR=0.6788;ExAC_AMR=0.4061;ExAC_EAS=0.4324;ExAC_FIN=0.4362;ExAC_NFE=0.3747;ExAC_OTH=0.3896;ExAC_SAS=0.3794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=0.202;CADD_phred=4.704;DANN_score=0.115;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.090;phastCons7way_vertebrate=0.200;phastCons20way_mammalian=0.295;SiPhy_29way_logOdds=7.512;hgmdPRO=id:CM074765#"Alzheimer_disease_increased_risk_association_with";gnomAD_exome_ALL=0.4038;gnomAD_exome_AFR=0.6798;gnomAD_exome_AMR=0.4078;gnomAD_exome_ASJ=0.3934;gnomAD_exome_EAS=0.4315;gnomAD_exome_FIN=0.4340;gnomAD_exome_NFE=0.3655;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.4831;gnomAD_genome_AFR=0.6821;gnomAD_genome_AMR=0.4101;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4588;gnomAD_genome_FIN=0.4406;gnomAD_genome_NFE=0.3892;gnomAD_genome_OTH=0.4191;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:852:396:12249:437:13409:-909.195,0,-803.19 -chr10 68280359 . A G 7860.35 . AB=0.435065;ABP=36.8514;AC=1;AF=0.5;AN=2;AO=402;CIGAR=1X;DP=924;DPB=924;DPRA=0;EPP=86.0664;EPPR=81.6884;GTI=0;LEN=1;MEANALT=3;MQM=40.3532;MQMR=39.8171;NS=1;NUMALT=1;ODDS=1809.91;PAIRED=0.982587;PAIREDR=0.970179;PAO=0;PQA=0;PQR=0;PRO=0;QA=12532;QR=15584;RO=503;RPL=154;RPP=50.7395;RPPR=58.1346;RPR=248;RUN=1;SAF=229;SAP=19.9499;SAR=173;SRF=277;SRP=14.2389;SRR=226;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.0431;esp6500siv2_ea=.;esp6500siv2_all=0.0431;esp6500siv2_ea=.;1000g2015aug_all=0.0401358;avsnp147=rs78806593;Kaviar_AF=0.0111706;Kaviar_AC=1727;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.1282;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0034;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.1296;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0360;gnomAD_genome_AFR=0.1259;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0021;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:924:503:15584:402:12532:-811.184,0,-1059.72 -chr10 69366602 . T C 21931.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=924;CIGAR=1X;DP=957;DPB=957;DPRA=0;EPP=149.89;EPPR=3.15506;GTI=0;LEN=1;MEANALT=3;MQM=39.5812;MQMR=36;NS=1;NUMALT=1;ODDS=1161.34;PAIRED=0.978355;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27904;QR=426;RO=15;RPL=228;RPP=517.734;RPPR=4.31318;RPR=696;RUN=1;SAF=767;SAP=877.474;SAR=157;SRF=13;SRP=20.5268;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;1000g2015aug_all=0.529952;avsnp147=rs3750863;Kaviar_AF=0.367052;Kaviar_AC=56747;Kaviar_AN=154602;ExAC_ALL=0.3811;ExAC_AFR=0.8004;ExAC_AMR=0.3845;ExAC_EAS=0.5341;ExAC_FIN=0.3173;ExAC_NFE=0.2901;ExAC_OTH=0.3770;ExAC_SAS=0.4284;CLNALLELEID=502840;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3675;gnomAD_exome_AFR=0.8098;gnomAD_exome_AMR=0.3761;gnomAD_exome_ASJ=0.2579;gnomAD_exome_EAS=0.5383;gnomAD_exome_FIN=0.3104;gnomAD_exome_NFE=0.2871;gnomAD_exome_OTH=0.3319;gnomAD_exome_SAS=0.4134;gnomAD_genome_ALL=0.4539;gnomAD_genome_AFR=0.8097;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.2633;gnomAD_genome_EAS=0.5074;gnomAD_genome_FIN=0.3096;gnomAD_genome_NFE=0.2905;gnomAD_genome_OTH=0.3507;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:957:15:426:924:27904:-2357.76,-248.102,0 -chr10 69905300 . G A 8183.14 . AB=0.472028;ABP=8.84139;AC=1;AF=0.5;AN=2;AO=405;CIGAR=1X;DP=858;DPB=858;DPRA=0;EPP=4.94586;EPPR=37.5191;GTI=0;LEN=1;MEANALT=3;MQM=39.2543;MQMR=39.3964;NS=1;NUMALT=1;ODDS=1884.24;PAIRED=0.990123;PAIREDR=0.975225;PAO=0;PQA=0;PQR=0;PRO=0;QA=12764;QR=14239;RO=444;RPL=213;RPP=5.37479;RPPR=20.6168;RPR=192;RUN=1;SAF=161;SAP=39.9468;SAR=244;SRF=140;SRP=134.551;SRR=304;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;1000g2015aug_all=0.295927;avsnp147=rs2817760;Kaviar_AF=0.150645;Kaviar_AC=23290;Kaviar_AN=154602;ExAC_ALL=0.1562;ExAC_AFR=0.6455;ExAC_AMR=0.1986;ExAC_EAS=0.1788;ExAC_FIN=0.1095;ExAC_NFE=0.0783;ExAC_OTH=0.1355;ExAC_SAS=0.1418;CLNALLELEID=142117;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1499;gnomAD_exome_AFR=0.6593;gnomAD_exome_AMR=0.1909;gnomAD_exome_ASJ=0.0985;gnomAD_exome_EAS=0.1781;gnomAD_exome_FIN=0.1133;gnomAD_exome_NFE=0.0778;gnomAD_exome_OTH=0.1343;gnomAD_exome_SAS=0.1431;gnomAD_genome_ALL=0.2496;gnomAD_genome_AFR=0.6422;gnomAD_genome_AMR=0.1730;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.1723;gnomAD_genome_FIN=0.1189;gnomAD_genome_NFE=0.0747;gnomAD_genome_OTH=0.1296;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:858:444:14239:405:12764:-830.611,0,-950.827 -chr10 69909899 . G A 15729.1 . AB=0.494051;ABP=3.50116;AC=1;AF=0.5;AN=2;AO=789;CIGAR=1X;DP=1597;DPB=1597;DPRA=0;EPP=402.52;EPPR=210.931;GTI=0;LEN=1;MEANALT=3;MQM=39.9797;MQMR=40.515;NS=1;NUMALT=1;ODDS=3448.86;PAIRED=0.982256;PAIREDR=0.972621;PAO=0;PQA=0;PQR=0;PRO=0;QA=24469;QR=23288;RO=767;RPL=357;RPP=18.4913;RPPR=7.76942;RPR=432;RUN=1;SAF=275;SAP=160.218;SAR=514;SRF=262;SRP=170.185;SRR=505;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;1000g2015aug_all=0.14996;avsnp147=rs7096613;Kaviar_AF=0.100943;Kaviar_AC=15606;Kaviar_AN=154602;ExAC_ALL=0.1043;ExAC_AFR=0.3556;ExAC_AMR=0.0608;ExAC_EAS=0.0071;ExAC_FIN=0.0506;ExAC_NFE=0.0893;ExAC_OTH=0.1087;ExAC_SAS=0.1075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0957;gnomAD_exome_AFR=0.3614;gnomAD_exome_AMR=0.0576;gnomAD_exome_ASJ=0.1291;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.0972;gnomAD_exome_SAS=0.1060;gnomAD_genome_ALL=0.1494;gnomAD_genome_AFR=0.3480;gnomAD_genome_AMR=0.0680;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0614;gnomAD_genome_NFE=0.0803;gnomAD_genome_OTH=0.0716;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1597:767:23288:789:24469:-1640.42,0,-1544.89 -chr10 69926097 . T C 6782.66 . AB=0.477398;ABP=7.03483;AC=1;AF=0.5;AN=2;AO=433;CIGAR=1X;DP=907;DPB=907;DPRA=0;EPP=8.47158;EPPR=34.5954;GTI=0;LEN=1;MEANALT=3;MQM=33.5312;MQMR=32.6477;NS=1;NUMALT=1;ODDS=1561.76;PAIRED=0.91455;PAIREDR=0.879545;PAO=0;PQA=0;PQR=0;PRO=0;QA=12312;QR=13002;RO=440;RPL=292;RPP=117.356;RPPR=64.917;RPR=141;RUN=1;SAF=241;SAP=15.0512;SAR=192;SRF=240;SRP=10.9066;SRR=200;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;cytoBand=10q21.3;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;1000g2015aug_all=0.482628;avsnp147=rs2673794;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;ExAC_ALL=0.6227;ExAC_AFR=0.3416;ExAC_AMR=0.6872;ExAC_EAS=0.2886;ExAC_FIN=0.7417;ExAC_NFE=0.6868;ExAC_OTH=0.6564;ExAC_SAS=0.6200;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6326;gnomAD_exome_AFR=0.3410;gnomAD_exome_AMR=0.6827;gnomAD_exome_ASJ=0.6361;gnomAD_exome_EAS=0.2873;gnomAD_exome_FIN=0.7398;gnomAD_exome_NFE=0.6904;gnomAD_exome_OTH=0.6410;gnomAD_exome_SAS=0.6264;gnomAD_genome_ALL=0.5867;gnomAD_genome_AFR=0.3464;gnomAD_genome_AMR=0.6480;gnomAD_genome_ASJ=0.6733;gnomAD_genome_EAS=0.2834;gnomAD_genome_FIN=0.7457;gnomAD_genome_NFE=0.7102;gnomAD_genome_OTH=0.6878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:907:440:13002:433:12312:-699.496,0,-702.568 -chr10 69926334 . C G 4125.65 . AB=0.500824;ABP=3.01388;AC=1;AF=0.5;AN=2;AO=304;CIGAR=1X;DP=607;DPB=607;DPRA=0;EPP=42.1254;EPPR=33.9012;GTI=0;LEN=1;MEANALT=3;MQM=31.1645;MQMR=31.0538;NS=1;NUMALT=1;ODDS=932.1;PAIRED=0.888158;PAIREDR=0.90681;PAO=0;PQA=0;PQR=0;PRO=0;QA=8219;QR=8426;RO=279;RPL=196;RPP=58.3257;RPPR=37.9484;RPR=108;RUN=1;SAF=157;SAP=3.7246;SAR=147;SRF=137;SRP=3.20488;SRR=142;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;cytoBand=10q21.3;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;1000g2015aug_all=0.316494;avsnp147=rs10823148;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;ExAC_ALL=0.4383;ExAC_AFR=0.1622;ExAC_AMR=0.4237;ExAC_EAS=0.2010;ExAC_FIN=0.5534;ExAC_NFE=0.5038;ExAC_OTH=0.4623;ExAC_SAS=0.4339;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.121;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=0.756;CADD_phred=9.186;DANN_score=0.646;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.595;SiPhy_29way_logOdds=7.614;hgmdPRO=.;gnomAD_exome_ALL=0.4418;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.4300;gnomAD_exome_ASJ=0.3260;gnomAD_exome_EAS=0.1949;gnomAD_exome_FIN=0.5430;gnomAD_exome_NFE=0.5137;gnomAD_exome_OTH=0.4498;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.1619;gnomAD_genome_AMR=0.4199;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1897;gnomAD_genome_FIN=0.5426;gnomAD_genome_NFE=0.5306;gnomAD_genome_OTH=0.5122;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:607:279:8426:304:8219:-429.9,0,-419.122 -chr10 69933921 . G A 11988.9 . AB=0.528652;ABP=11.8452;AC=1;AF=0.5;AN=2;AO=655;CIGAR=1X;DP=1239;DPB=1239;DPRA=0;EPP=68.9203;EPPR=49.0455;GTI=0;LEN=1;MEANALT=3;MQM=37.3435;MQMR=38.4906;NS=1;NUMALT=1;ODDS=2206.58;PAIRED=0.964885;PAIREDR=0.964151;PAO=0;PQA=0;PQR=0;PRO=0;QA=18906;QR=16016;RO=530;RPL=370;RPP=26.9628;RPPR=39.2124;RPR=285;RUN=1;SAF=349;SAP=9.14015;SAR=306;SRF=276;SRP=4.9933;SRR=254;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;cytoBand=10q21.3;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;1000g2015aug_all=0.335863;avsnp147=rs10997975;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;ExAC_ALL=0.4308;ExAC_AFR=0.2092;ExAC_AMR=0.4167;ExAC_EAS=0.2586;ExAC_FIN=0.5402;ExAC_NFE=0.4801;ExAC_OTH=0.4559;ExAC_SAS=0.4256;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.657;CADD_phred=8.543;DANN_score=0.184;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.246;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=8.094;hgmdPRO=.;gnomAD_exome_ALL=0.4329;gnomAD_exome_AFR=0.2047;gnomAD_exome_AMR=0.4185;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.2489;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4878;gnomAD_exome_OTH=0.4404;gnomAD_exome_SAS=0.4292;gnomAD_genome_ALL=0.4043;gnomAD_genome_AFR=0.2092;gnomAD_genome_AMR=0.4183;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.2320;gnomAD_genome_FIN=0.5284;gnomAD_genome_NFE=0.5016;gnomAD_genome_OTH=0.5021;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1239:530:16016:655:18906:-1219.55,0,-977.644 -chr10 69933969 . G A 11863.6 . AB=0.501881;ABP=3.05115;AC=1;AF=0.5;AN=2;AO=667;CIGAR=1X;DP=1329;DPB=1329;DPRA=0;EPP=8.48293;EPPR=12.1053;GTI=0;LEN=1;MEANALT=3;MQM=36.7436;MQMR=37.2013;NS=1;NUMALT=1;ODDS=2486.89;PAIRED=0.949025;PAIREDR=0.935588;PAO=0;PQA=0;PQR=0;PRO=0;QA=19226;QR=18228;RO=621;RPL=368;RPP=18.5101;RPPR=19.6583;RPR=299;RUN=1;SAF=285;SAP=33.6421;SAR=382;SRF=251;SRP=52.5276;SRR=370;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;cytoBand=10q21.3;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;1000g2015aug_all=0.32508;avsnp147=rs7916821;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;ExAC_ALL=0.4258;ExAC_AFR=0.2092;ExAC_AMR=0.4141;ExAC_EAS=0.2041;ExAC_FIN=0.5380;ExAC_NFE=0.4795;ExAC_OTH=0.4515;ExAC_SAS=0.4236;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.104;CADD_raw=1.882;CADD_phred=15.48;DANN_score=0.987;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.933;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.517;phastCons20way_mammalian=0.852;SiPhy_29way_logOdds=8.752;hgmdPRO=.;gnomAD_exome_ALL=0.4283;gnomAD_exome_AFR=0.2043;gnomAD_exome_AMR=0.4160;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.1982;gnomAD_exome_FIN=0.5270;gnomAD_exome_NFE=0.4873;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4273;gnomAD_genome_ALL=0.4011;gnomAD_genome_AFR=0.2082;gnomAD_genome_AMR=0.4099;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1923;gnomAD_genome_FIN=0.5266;gnomAD_genome_NFE=0.5011;gnomAD_genome_OTH=0.4969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1329:621:18228:667:19226:-1200.07,0,-1096.08 -chr10 69934258 . C G 6058.61 . AB=0.455943;ABP=19.4654;AC=1;AF=0.5;AN=2;AO=445;CIGAR=1X;DP=976;DPB=976;DPRA=0;EPP=63.1332;EPPR=133.93;GTI=0;LEN=1;MEANALT=3;MQM=35.4404;MQMR=34.6474;NS=1;NUMALT=1;ODDS=1395.05;PAIRED=0.964045;PAIREDR=0.946392;PAO=0;PQA=0;PQR=0;PRO=0;QA=10947;QR=13406;RO=485;RPL=235;RPP=6.06012;RPPR=10.5366;RPR=210;RUN=1;SAF=218;SAP=3.40556;SAR=227;SRF=218;SRP=13.7602;SRR=267;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;cytoBand=10q21.3;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;1000g2015aug_all=0.471446;avsnp147=rs3814182;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;ExAC_ALL=0.5205;ExAC_AFR=0.4598;ExAC_AMR=0.4522;ExAC_EAS=0.3647;ExAC_FIN=0.6409;ExAC_NFE=0.5520;ExAC_OTH=0.5363;ExAC_SAS=0.5113;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.417;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.386;CADD_raw=2.029;CADD_phred=16.40;DANN_score=0.968;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-9.63;phyloP7way_vertebrate=-0.760;phyloP20way_mammalian=-0.330;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.913;SiPhy_29way_logOdds=19.595;hgmdPRO=.;gnomAD_exome_ALL=0.5203;gnomAD_exome_AFR=0.4602;gnomAD_exome_AMR=0.4632;gnomAD_exome_ASJ=0.4294;gnomAD_exome_EAS=0.3663;gnomAD_exome_FIN=0.6304;gnomAD_exome_NFE=0.5577;gnomAD_exome_OTH=0.5190;gnomAD_exome_SAS=0.5127;gnomAD_genome_ALL=0.5276;gnomAD_genome_AFR=0.4519;gnomAD_genome_AMR=0.4483;gnomAD_genome_ASJ=0.4669;gnomAD_genome_EAS=0.3781;gnomAD_genome_FIN=0.6211;gnomAD_genome_NFE=0.5682;gnomAD_genome_OTH=0.5760;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:976:485:13406:445:10947:-620.49,0,-785.378 -chr10 69935235 . T C 10575.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=471;CIGAR=1X;DP=483;DPB=483;DPRA=0;EPP=20.1654;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=38.3631;MQMR=40;NS=1;NUMALT=1;ODDS=651.957;PAIRED=0.989384;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13495;QR=14;RO=1;RPL=242;RPP=3.78945;RPPR=5.18177;RPR=229;RUN=1;SAF=43;SAP=686.379;SAR=428;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;1000g2015aug_all=0.982428;avsnp147=rs6480306;Kaviar_AF=0.951864;Kaviar_AC=147160;Kaviar_AN=154602;ExAC_ALL=0.9938;ExAC_AFR=0.9403;ExAC_AMR=0.9973;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9967;ExAC_SAS=0.9962;CLNALLELEID=142122;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9949;gnomAD_exome_AFR=0.9376;gnomAD_exome_AMR=0.9973;gnomAD_exome_ASJ=0.9952;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9960;gnomAD_exome_SAS=0.9961;gnomAD_genome_ALL=0.9818;gnomAD_genome_AFR=0.9367;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9959;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:483:1:14:471:13495:-1141.84,-140.826,0 -chr10 69959242 . C A 23800.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1097;CIGAR=1X;DP=1157;DPB=1157;DPRA=0;EPP=44.6285;EPPR=38.1882;GTI=0;LEN=1;MEANALT=3;MQM=33.4977;MQMR=31.7778;NS=1;NUMALT=1;ODDS=1283.28;PAIRED=0.919781;PAIREDR=0.866667;PAO=0;PQA=0;PQR=0;PRO=0;QA=31813;QR=888;RO=45;RPL=636;RPP=63.6314;RPPR=43.5927;RPR=461;RUN=1;SAF=465;SAP=58.2156;SAR=632;SRF=40;SRP=62.1226;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;cytoBand=10q21.3;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;1000g2015aug_all=0.340256;avsnp147=rs7079481;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;ExAC_ALL=0.4323;ExAC_AFR=0.2533;ExAC_AMR=0.4148;ExAC_EAS=0.2251;ExAC_FIN=0.5374;ExAC_NFE=0.4806;ExAC_OTH=0.4581;ExAC_SAS=0.4268;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_pred=D;VEST3_score=0.56;CADD_raw=6.536;CADD_phred=31;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.869;SiPhy_29way_logOdds=19.331;hgmdPRO=.;gnomAD_exome_ALL=0.4337;gnomAD_exome_AFR=0.2546;gnomAD_exome_AMR=0.4170;gnomAD_exome_ASJ=0.3310;gnomAD_exome_EAS=0.2184;gnomAD_exome_FIN=0.5262;gnomAD_exome_NFE=0.4879;gnomAD_exome_OTH=0.4327;gnomAD_exome_SAS=0.4309;gnomAD_genome_ALL=0.4160;gnomAD_genome_AFR=0.2562;gnomAD_genome_AMR=0.4165;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.2112;gnomAD_genome_FIN=0.5249;gnomAD_genome_NFE=0.5020;gnomAD_genome_OTH=0.4928;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:1157:45:888:1097:31813:-2383.44,-275.408,0 -chr10 69959345 . GCTGGGAC GC 9696.64 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=757;CIGAR=1M6D1M;DP=817;DPB=226;DPRA=0;EPP=545.807;EPPR=3.44459;GTI=0;LEN=6;MEANALT=21;MQM=24.893;MQMR=40.8;NS=1;NUMALT=1;ODDS=1035.99;PAIRED=0.970938;PAIREDR=1;PAO=9.5;PQA=306;PQR=306;PRO=9.5;QA=14189;QR=132;RO=5;RPL=519;RPP=229.512;RPPR=6.91895;RPR=238;RUN=1;SAF=392;SAP=5.10145;SAR=365;SRF=2;SRP=3.44459;SRR=3;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:817:5:132:757:14189:-1053.5,-229.048,0 -chr10 75865065 . G A 8919.31 . AB=0.496682;ABP=3.11116;AC=1;AF=0.5;AN=2;AO=524;CIGAR=1X;DP=1055;DPB=1055;DPRA=0;EPP=4.66791;EPPR=43.1157;GTI=0;LEN=1;MEANALT=3;MQM=37.1355;MQMR=38.6577;NS=1;NUMALT=1;ODDS=2053.75;PAIRED=0.979008;PAIREDR=0.959615;PAO=0;PQA=0;PQR=0;PRO=0;QA=14958;QR=15788;RO=520;RPL=334;RPP=88.9409;RPPR=96.9682;RPR=190;RUN=1;SAF=154;SAP=196.354;SAR=370;SRF=168;SRP=144.39;SRR=352;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;cytoBand=10q22.2;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;1000g2015aug_all=0.324681;avsnp147=rs767809;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;ExAC_ALL=0.4761;ExAC_AFR=0.1261;ExAC_AMR=0.3736;ExAC_EAS=0.2618;ExAC_FIN=0.5442;ExAC_NFE=0.5852;ExAC_OTH=0.5310;ExAC_SAS=0.4094;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4821;gnomAD_exome_AFR=0.1210;gnomAD_exome_AMR=0.3950;gnomAD_exome_ASJ=0.6871;gnomAD_exome_EAS=0.2550;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.5798;gnomAD_exome_OTH=0.5250;gnomAD_exome_SAS=0.4094;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.1369;gnomAD_genome_AMR=0.4511;gnomAD_genome_ASJ=0.6967;gnomAD_genome_EAS=0.2801;gnomAD_genome_FIN=0.5312;gnomAD_genome_NFE=0.5824;gnomAD_genome_OTH=0.4878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1055:520:15788:524:14958:-928.651,0,-1023.51 -chr10 75871735 . C G 15004.8 . AB=0.510345;ABP=4.62767;AC=1;AF=0.5;AN=2;AO=888;CIGAR=1X;DP=1740;DPB=1740;DPRA=0;EPP=34.7901;EPPR=31.9589;GTI=0;LEN=1;MEANALT=3;MQM=35.6261;MQMR=37.0834;NS=1;NUMALT=1;ODDS=3454.98;PAIRED=0.925676;PAIREDR=0.927449;PAO=0;PQA=0;PQR=0;PRO=0;QA=25438;QR=25648;RO=827;RPL=290;RPP=234.986;RPPR=187.402;RPR=598;RUN=1;SAF=547;SAP=106.781;SAR=341;SRF=512;SRP=104.912;SRR=315;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;cytoBand=10q22.2;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;1000g2015aug_all=0.623003;avsnp147=rs2131956;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;ExAC_ALL=0.6734;ExAC_AFR=0.7837;ExAC_AMR=0.5684;ExAC_EAS=0.3769;ExAC_FIN=0.6739;ExAC_NFE=0.7428;ExAC_OTH=0.7037;ExAC_SAS=0.5490;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.7803;gnomAD_exome_AMR=0.5817;gnomAD_exome_ASJ=0.8593;gnomAD_exome_EAS=0.3696;gnomAD_exome_FIN=0.6733;gnomAD_exome_NFE=0.7412;gnomAD_exome_OTH=0.7083;gnomAD_exome_SAS=0.5500;gnomAD_genome_ALL=0.7277;gnomAD_genome_AFR=0.7918;gnomAD_genome_AMR=0.6447;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.3861;gnomAD_genome_FIN=0.6712;gnomAD_genome_NFE=0.7447;gnomAD_genome_OTH=0.6857;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1740:827:25648:888:25438:-1546.68,0,-1578.81 -chr10 88445385 . G C 10973.1 . AB=0.47931;ABP=8.40154;AC=1;AF=0.5;AN=2;AO=695;CIGAR=1X;DP=1450;DPB=1450;DPRA=0;EPP=86.023;EPPR=51.5868;GTI=0;LEN=1;MEANALT=3;MQM=34.6259;MQMR=35.9417;NS=1;NUMALT=1;ODDS=2526.64;PAIRED=0.915108;PAIREDR=0.884882;PAO=0;PQA=0;PQR=0;PRO=0;QA=19473;QR=21983;RO=721;RPL=260;RPP=98.6957;RPPR=129.579;RPR=435;RUN=1;SAF=400;SAP=37.457;SAR=295;SRF=421;SRP=47.1053;SRR=300;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;1000g2015aug_all=0.624201;avsnp147=rs3740345;Kaviar_AF=0.0040297;Kaviar_AC=623;Kaviar_AN=154602;ExAC_ALL=0.6875;ExAC_AFR=0.5941;ExAC_AMR=0.4747;ExAC_EAS=0.4540;ExAC_FIN=0.6472;ExAC_NFE=0.7452;ExAC_OTH=0.6944;ExAC_SAS=0.7966;CLNALLELEID=253888;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6758;gnomAD_exome_AFR=0.5900;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.7475;gnomAD_exome_EAS=0.4577;gnomAD_exome_FIN=0.6465;gnomAD_exome_NFE=0.7447;gnomAD_exome_OTH=0.6842;gnomAD_exome_SAS=0.7961;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5862;gnomAD_genome_AMR=0.5370;gnomAD_genome_ASJ=0.7417;gnomAD_genome_EAS=0.4597;gnomAD_genome_FIN=0.6506;gnomAD_genome_NFE=0.7454;gnomAD_genome_OTH=0.6984;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1450:721:21983:695:19473:-1127.12,0,-1345.57 -chr10 88458996 . TTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCT 233.894 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=175;CIGAR=1M4D25M;DP=660;DPB=741.9;DPRA=0;EPP=18.2106;EPPR=7.13366;GTI=0;LEN=4;MEANALT=213;MQM=28.1086;MQMR=35.4494;NS=1;NUMALT=1;ODDS=53.8561;PAIRED=0.92;PAIREDR=0.977528;PAO=192.5;PQA=6012.5;PQR=6292.5;PRO=201.5;QA=3348;QR=2805;RO=89;RPL=69;RPP=19.9974;RPPR=8.49998;RPR=106;RUN=1;SAF=144;SAP=161.453;SAR=31;SRF=72;SRP=76.816;SRR=17;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:660:89:2805:175:3348:-35.3271,-68.1699,0 -chr10 92678740 . AATAAATAAATATATATATA AA 5247.88 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=518;CIGAR=1M18D1M;DP=770;DPB=323;DPRA=0;EPP=5.42491;EPPR=7.35324;GTI=0;LEN=18;MEANALT=61;MQM=17.9691;MQMR=42;NS=1;NUMALT=1;ODDS=671.73;PAIRED=1;PAIREDR=1;PAO=12;PQA=320;PQR=692;PRO=24;QA=10272;QR=65;RO=2;RPL=230;RPP=17.1123;RPPR=7.35324;RPR=288;RUN=1;SAF=83;SAP=522.42;SAR=435;SRF=0;SRP=7.35324;SRR=2;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:770:2:65:518:10272:-585.802,-136.517,0 -chr10 92678765 . A G 7749.37 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=556;CIGAR=1X;DP=581;DPB=581;DPRA=0;EPP=262.978;EPPR=14.7363;GTI=0;LEN=1;MEANALT=3;MQM=19.1043;MQMR=20.6;NS=1;NUMALT=1;ODDS=687.491;PAIRED=1;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=17927;QR=474;RO=15;RPL=366;RPP=123.988;RPPR=27.4756;RPR=190;RUN=1;SAF=111;SAP=438.695;SAR=445;SRF=2;SRP=20.5268;SRR=13;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.441094;avsnp147=rs56177217;Kaviar_AF=0.428274;Kaviar_AC=66212;Kaviar_AN=154602;ExAC_ALL=0.6476;ExAC_AFR=0.4909;ExAC_AMR=0.7010;ExAC_EAS=0.6559;ExAC_FIN=0.6581;ExAC_NFE=0.6758;ExAC_OTH=0.6380;ExAC_SAS=0.5534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6224;gnomAD_exome_AFR=0.3890;gnomAD_exome_AMR=0.6603;gnomAD_exome_ASJ=0.5918;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.6281;gnomAD_exome_NFE=0.6641;gnomAD_exome_OTH=0.6230;gnomAD_exome_SAS=0.5666;gnomAD_genome_ALL=0.4635;gnomAD_genome_AFR=0.2469;gnomAD_genome_AMR=0.6437;gnomAD_genome_ASJ=0.5070;gnomAD_genome_EAS=0.3354;gnomAD_genome_FIN=0.6583;gnomAD_genome_NFE=0.5462;gnomAD_genome_OTH=0.5168;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:581:15:474:556:17927:-857.477,-146.147,0 -chr10 101473218 . A G 15768.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=664;CIGAR=1X;DP=697;DPB=697;DPRA=0;EPP=185.152;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=39.9036;MQMR=35.1667;NS=1;NUMALT=1;ODDS=883.643;PAIRED=0.983434;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18986;QR=128;RO=6;RPL=181;RPP=301.274;RPPR=3.0103;RPR=483;RUN=1;SAF=343;SAP=4.59312;SAR=321;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=COX15:NM_004376:exon9:c.T1120C:p.F374L;cytoBand=10q24.2;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;1000g2015aug_all=0.827077;avsnp147=rs2231687;Kaviar_AF=0.843488;Kaviar_AC=130405;Kaviar_AN=154602;ExAC_ALL=0.8610;ExAC_AFR=0.7618;ExAC_AMR=0.8993;ExAC_EAS=0.7743;ExAC_FIN=0.8872;ExAC_NFE=0.8737;ExAC_OTH=0.8717;ExAC_SAS=0.8797;CLNALLELEID=134284;CLNDN=Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified;CLNDISDB=MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=0.62;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.914;CADD_phred=10.16;DANN_score=0.868;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=0.947;phyloP7way_vertebrate=0.423;phyloP20way_mammalian=0.854;phastCons7way_vertebrate=0.391;phastCons20way_mammalian=0.252;SiPhy_29way_logOdds=3.913;hgmdPRO=.;gnomAD_exome_ALL=0.8646;gnomAD_exome_AFR=0.7603;gnomAD_exome_AMR=0.8989;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7760;gnomAD_exome_FIN=0.8888;gnomAD_exome_NFE=0.8763;gnomAD_exome_OTH=0.8701;gnomAD_exome_SAS=0.8776;gnomAD_genome_ALL=0.8426;gnomAD_genome_AFR=0.7607;gnomAD_genome_AMR=0.8849;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.7862;gnomAD_genome_FIN=0.8857;gnomAD_genome_NFE=0.8814;gnomAD_genome_OTH=0.8834;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:697:6:128:664:18986:-1628.2,-191.344,0 -chr10 112543217 . G A 42239.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1688;CIGAR=1X;DP=1718;DPB=1718;DPRA=0;EPP=92.6684;EPPR=8.80089;GTI=0;LEN=1;MEANALT=3;MQM=38.3217;MQMR=38.5;NS=1;NUMALT=1;ODDS=2295.6;PAIRED=0.94609;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=51623;QR=119;RO=6;RPL=1181;RPP=587.399;RPPR=4.45795;RPR=507;RUN=1;SAF=675;SAP=149.976;SAR=1013;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;1000g2015aug_all=0.788139;avsnp147=rs6585012;Kaviar_AF=0.263664;Kaviar_AC=40763;Kaviar_AN=154602;ExAC_ALL=0.8077;ExAC_AFR=0.6133;ExAC_AMR=0.8357;ExAC_EAS=0.9662;ExAC_FIN=0.8024;ExAC_NFE=0.7966;ExAC_OTH=0.8238;ExAC_SAS=0.8636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8183;gnomAD_exome_AFR=0.6245;gnomAD_exome_AMR=0.8343;gnomAD_exome_ASJ=0.7754;gnomAD_exome_EAS=0.9689;gnomAD_exome_FIN=0.8327;gnomAD_exome_NFE=0.7960;gnomAD_exome_OTH=0.7820;gnomAD_exome_SAS=0.8676;gnomAD_genome_ALL=0.7646;gnomAD_genome_AFR=0.6232;gnomAD_genome_AMR=0.8115;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.9654;gnomAD_genome_FIN=0.8266;gnomAD_genome_NFE=0.8062;gnomAD_genome_OTH=0.7898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1718:6:119:1688:51623:-4310.74,-499.369,0 -chr10 112544063 . A C 26583.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1142;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=73.1059;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=38.021;MQMR=32.725;NS=1;NUMALT=1;ODDS=1350.45;PAIRED=0.967601;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=32313;QR=714;RO=40;RPL=574;RPP=3.07875;RPPR=8.43898;RPR=568;RUN=1;SAF=527;SAP=17.7352;SAR=615;SRF=17;SRP=4.96463;SRR=23;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;1000g2015aug_all=0.633986;avsnp147=rs7898438;Kaviar_AF=0.189073;Kaviar_AC=29231;Kaviar_AN=154602;ExAC_ALL=0.6534;ExAC_AFR=0.4381;ExAC_AMR=0.6746;ExAC_EAS=0.9003;ExAC_FIN=0.6875;ExAC_NFE=0.5824;ExAC_OTH=0.6613;ExAC_SAS=0.7632;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6405;gnomAD_exome_AFR=0.4339;gnomAD_exome_AMR=0.6756;gnomAD_exome_ASJ=0.5901;gnomAD_exome_EAS=0.8826;gnomAD_exome_FIN=0.6139;gnomAD_exome_NFE=0.5772;gnomAD_exome_OTH=0.5847;gnomAD_exome_SAS=0.7616;gnomAD_genome_ALL=0.5580;gnomAD_genome_AFR=0.4297;gnomAD_genome_AMR=0.6734;gnomAD_genome_ASJ=0.5861;gnomAD_genome_EAS=0.8634;gnomAD_genome_FIN=0.6037;gnomAD_genome_NFE=0.5783;gnomAD_genome_OTH=0.6145;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:40:714:1142:32313:-2666.12,-297.735,0 -chr10 112570243 . T C 9322.28 . AB=0.474062;ABP=10.3323;AC=1;AF=0.5;AN=2;AO=594;CIGAR=1X;DP=1253;DPB=1253;DPRA=0;EPP=15.308;EPPR=26.6365;GTI=0;LEN=1;MEANALT=3;MQM=34.0236;MQMR=36.6003;NS=1;NUMALT=1;ODDS=2146.53;PAIRED=0.905724;PAIREDR=0.928803;PAO=0;PQA=0;PQR=0;PRO=0;QA=16898;QR=18909;RO=618;RPL=367;RPP=74.6616;RPPR=55.3084;RPR=227;RUN=1;SAF=207;SAP=121.454;SAR=387;SRF=208;SRP=146.384;SRR=410;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;1000g2015aug_all=0.316494;avsnp147=rs11195338;Kaviar_AF=0.11276;Kaviar_AC=17433;Kaviar_AN=154602;ExAC_ALL=0.3515;ExAC_AFR=0.1450;ExAC_AMR=0.3177;ExAC_EAS=0.5468;ExAC_FIN=0.4163;ExAC_NFE=0.3895;ExAC_OTH=0.3602;ExAC_SAS=0.3392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3629;gnomAD_exome_AFR=0.1481;gnomAD_exome_AMR=0.2859;gnomAD_exome_ASJ=0.4252;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.3946;gnomAD_exome_NFE=0.3846;gnomAD_exome_OTH=0.3694;gnomAD_exome_SAS=0.3349;gnomAD_genome_ALL=0.3198;gnomAD_genome_AFR=0.1544;gnomAD_genome_AMR=0.2852;gnomAD_genome_ASJ=0.4570;gnomAD_genome_EAS=0.5037;gnomAD_genome_FIN=0.4092;gnomAD_genome_NFE=0.3705;gnomAD_genome_OTH=0.3827;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1253:618:18909:594:16898:-960.889,0,-1163.05 -chr10 112572458 . G C 21494.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=987;CIGAR=1X;DP=1004;DPB=1004;DPRA=0;EPP=35.2216;EPPR=8.80089;GTI=0;LEN=1;MEANALT=3;MQM=33.308;MQMR=31.3333;NS=1;NUMALT=1;ODDS=1331.44;PAIRED=0.924012;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27887;QR=124;RO=6;RPL=483;RPP=3.98053;RPPR=8.80089;RPR=504;RUN=1;SAF=421;SAP=49.2668;SAR=566;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;cytoBand=10q25.2;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;1000g2015aug_all=0.991014;avsnp147=rs1417635;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;ExAC_ALL=0.9968;ExAC_AFR=0.9697;ExAC_AMR=0.9951;ExAC_EAS=0.9984;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9982;gnomAD_exome_AFR=0.9721;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9992;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9919;gnomAD_genome_AFR=0.9720;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9990;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1004:6:124:987:27887:-2159.54,-289.747,0 -chr10 112581683 . G A 3037.8 . AB=0.407279;ABP=46.0973;AC=1;AF=0.5;AN=2;AO=235;CIGAR=1X;DP=577;DPB=577;DPRA=0;EPP=20.0956;EPPR=47.7986;GTI=0;LEN=1;MEANALT=3;MQM=31.1404;MQMR=31.7209;NS=1;NUMALT=1;ODDS=699.479;PAIRED=0.702128;PAIREDR=0.791411;PAO=0;PQA=0;PQR=0;PRO=0;QA=6839;QR=10025;RO=326;RPL=114;RPP=3.46308;RPPR=4.31585;RPR=121;RUN=1;SAF=49;SAP=176.442;SAR=186;SRF=86;SRP=160.982;SRR=240;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon11:c.G3306A:p.V1102V;cytoBand=10q25.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:577:326:10025:235:6839:-334.475,0,-564.851 -chr10 112590810 . G C 27049.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1209;CIGAR=1X;DP=1235;DPB=1235;DPRA=0;EPP=33.833;EPPR=19.0002;GTI=0;LEN=1;MEANALT=3;MQM=33.799;MQMR=31.3636;NS=1;NUMALT=1;ODDS=1616.82;PAIRED=0.885856;PAIREDR=0.818182;PAO=0;PQA=0;PQR=0;PRO=0;QA=35140;QR=154;RO=11;RPL=424;RPP=237.079;RPPR=4.78696;RPR=785;RUN=1;SAF=650;SAP=17.8837;SAR=559;SRF=3;SRP=7.94546;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;1000g2015aug_all=0.969649;avsnp147=rs7070640;Kaviar_AF=0.305209;Kaviar_AC=47186;Kaviar_AN=154602;ExAC_ALL=0.988;ExAC_AFR=0.8931;ExAC_AMR=0.9878;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53180;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9937;gnomAD_exome_AFR=0.8961;gnomAD_exome_AMR=0.9951;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9979;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9719;gnomAD_genome_AFR=0.9017;gnomAD_genome_AMR=0.9952;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1235:11:154:1209:35140:-2733.99,-355.092,0 -chr10 112595719 . G C 6130.63 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=331;CIGAR=1X;DP=358;DPB=358;DPRA=0;EPP=177.312;EPPR=31.2394;GTI=0;LEN=1;MEANALT=3;MQM=34.8822;MQMR=26.4615;NS=1;NUMALT=1;ODDS=407.518;PAIRED=0.990937;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=7904;QR=195;RO=13;RPL=194;RPP=24.3248;RPPR=4.51363;RPR=137;RUN=1;SAF=112;SAP=78.1196;SAR=219;SRF=8;SRP=4.51363;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;cytoBand=10q25.2;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;1000g2015aug_all=0.697085;avsnp147=rs942077;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;ExAC_ALL=0.7637;ExAC_AFR=0.4845;ExAC_AMR=0.8094;ExAC_EAS=0.7935;ExAC_FIN=0.9118;ExAC_NFE=0.8681;ExAC_OTH=0.7935;ExAC_SAS=0.7206;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.087;CADD_raw=5.504;CADD_phred=26.3;DANN_score=0.997;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.433;SiPhy_29way_logOdds=17.448;hgmdPRO=.;gnomAD_exome_ALL=0.8024;gnomAD_exome_AFR=0.4687;gnomAD_exome_AMR=0.7846;gnomAD_exome_ASJ=0.8473;gnomAD_exome_EAS=0.8006;gnomAD_exome_FIN=0.8629;gnomAD_exome_NFE=0.8665;gnomAD_exome_OTH=0.8161;gnomAD_exome_SAS=0.7186;gnomAD_genome_ALL=0.7555;gnomAD_genome_AFR=0.4870;gnomAD_genome_AMR=0.7912;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7874;gnomAD_genome_FIN=0.8569;gnomAD_genome_NFE=0.8760;gnomAD_genome_OTH=0.8252;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:358:13:195:331:7904:-639.529,-88.9886,0 -chr10 121429633 . T C 9601.98 . AB=0.521866;ABP=8.70804;AC=1;AF=0.5;AN=2;AO=716;CIGAR=1X;DP=1372;DPB=1372;DPRA=0;EPP=29.808;EPPR=10.3599;GTI=0;LEN=1;MEANALT=3;MQM=31.1648;MQMR=34.1748;NS=1;NUMALT=1;ODDS=1728.21;PAIRED=0.881285;PAIREDR=0.916084;PAO=0;PQA=0;PQR=0;PRO=0;QA=18242;QR=14879;RO=572;RPL=293;RPP=54.2643;RPPR=14.0803;RPR=423;RUN=1;SAF=266;SAP=105.688;SAR=450;SRF=245;SRP=28.5365;SRR=327;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;cytoBand=10q26.11;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;1000g2015aug_all=0.0964457;avsnp147=rs2234962;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;ExAC_ALL=0.1767;ExAC_AFR=0.0386;ExAC_AMR=0.0953;ExAC_EAS=0.0012;ExAC_FIN=0.2257;ExAC_NFE=0.2214;ExAC_OTH=0.1919;ExAC_SAS=0.2109;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-1.02;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.289;CADD_raw=4.176;CADD_phred=23.8;DANN_score=0.986;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=0.064;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.123;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.413;hgmdPRO=id:CM1111343#"Cardiomyopathy_dilated_reduced_risk";gnomAD_exome_ALL=0.1743;gnomAD_exome_AFR=0.0359;gnomAD_exome_AMR=0.0996;gnomAD_exome_ASJ=0.2201;gnomAD_exome_EAS=0.0011;gnomAD_exome_FIN=0.2273;gnomAD_exome_NFE=0.2177;gnomAD_exome_OTH=0.1811;gnomAD_exome_SAS=0.2103;gnomAD_genome_ALL=0.1475;gnomAD_genome_AFR=0.0370;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2334;gnomAD_genome_NFE=0.2062;gnomAD_genome_OTH=0.1803;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1372:572:14879:716:18242:-990.128,0,-766.534 -chr10 121436362 . A G 9561.43 . AB=0.511231;ABP=4.22968;AC=1;AF=0.5;AN=2;AO=569;CIGAR=1X;DP=1113;DPB=1113;DPRA=0;EPP=28.049;EPPR=13.9995;GTI=0;LEN=1;MEANALT=3;MQM=34.7417;MQMR=34.9474;NS=1;NUMALT=1;ODDS=1847.33;PAIRED=0.931459;PAIREDR=0.8583;PAO=0;PQA=0;PQR=0;PRO=0;QA=16304;QR=14579;RO=494;RPL=308;RPP=11.4405;RPPR=7.51149;RPR=261;RUN=1;SAF=336;SAP=43.4974;SAR=233;SRF=295;SRP=43.521;SRR=199;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;cytoBand=10q26.11;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;1000g2015aug_all=0.70647;avsnp147=rs196295;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;ExAC_ALL=0.7409;ExAC_AFR=0.7517;ExAC_AMR=0.6310;ExAC_EAS=0.5208;ExAC_FIN=0.7299;ExAC_NFE=0.7819;ExAC_OTH=0.7632;ExAC_SAS=0.7637;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7384;gnomAD_exome_AFR=0.7530;gnomAD_exome_AMR=0.6405;gnomAD_exome_ASJ=0.8181;gnomAD_exome_EAS=0.5160;gnomAD_exome_FIN=0.7422;gnomAD_exome_NFE=0.7841;gnomAD_exome_OTH=0.7623;gnomAD_exome_SAS=0.7641;gnomAD_genome_ALL=0.7508;gnomAD_genome_AFR=0.7533;gnomAD_genome_AMR=0.6439;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.5216;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7798;gnomAD_genome_OTH=0.7622;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1113:494:14579:569:16304:-972.745,0,-816.999 -chr11 534242 . A G 10806.4 . AB=0.466299;ABP=19.1101;AC=1;AF=0.5;AN=2;AO=761;CIGAR=1X;DP=1632;DPB=1632;DPRA=0;EPP=50.4945;EPPR=14.6383;GTI=0;LEN=1;MEANALT=3;MQM=31.7845;MQMR=34.199;NS=1;NUMALT=1;ODDS=2488.27;PAIRED=0.856767;PAIREDR=0.880862;PAO=0;PQA=0;PQR=0;PRO=0;QA=21100;QR=22384;RO=789;RPL=358;RPP=8.78853;RPPR=5.01664;RPR=403;RUN=1;SAF=428;SAP=28.7627;SAR=333;SRF=461;SRP=51.6937;SRR=328;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;cytoBand=11p15.5;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;1000g2015aug_all=0.297125;avsnp147=rs12628;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;ExAC_ALL=0.3135;ExAC_AFR=0.3771;ExAC_AMR=0.3680;ExAC_EAS=0.1893;ExAC_FIN=0.2630;ExAC_NFE=0.3297;ExAC_OTH=0.2805;ExAC_SAS=0.2579;CLNALLELEID=48901;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CM035804#"Bladder_cancer_association_with";gnomAD_exome_ALL=0.3157;gnomAD_exome_AFR=0.3789;gnomAD_exome_AMR=0.3814;gnomAD_exome_ASJ=0.2712;gnomAD_exome_EAS=0.1885;gnomAD_exome_FIN=0.2675;gnomAD_exome_NFE=0.3384;gnomAD_exome_OTH=0.3086;gnomAD_exome_SAS=0.2520;gnomAD_genome_ALL=0.3432;gnomAD_genome_AFR=0.3836;gnomAD_genome_AMR=0.3600;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.3542;gnomAD_genome_OTH=0.3134;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.356061::-0.197663;Heart_Left_Ventricle=Heart_Left_Ventricle::0.338235::0.323458;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1632:789:22384:761:21100:-1096.98,0,-1269.85 -chr11 2797320 . A G 9259.59 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=437;CIGAR=1X;DP=445;DPB=445;DPRA=0;EPP=4.12833;EPPR=11.6962;GTI=0;LEN=1;MEANALT=2;MQM=32.2151;MQMR=32.75;NS=1;NUMALT=1;ODDS=579.4;PAIRED=0.933638;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13004;QR=114;RO=4;RPL=287;RPP=96.2743;RPPR=5.18177;RPR=150;RUN=1;SAF=109;SAP=241.331;SAR=328;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;1000g2015aug_all=0.668331;avsnp147=rs163150;Kaviar_AF=0.428591;Kaviar_AC=66261;Kaviar_AN=154602;ExAC_ALL=0.6896;ExAC_AFR=0.6143;ExAC_AMR=0.5761;ExAC_EAS=0.7178;ExAC_FIN=0.8023;ExAC_NFE=0.6840;ExAC_OTH=0.7158;ExAC_SAS=0.7248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.6031;gnomAD_exome_AMR=0.5498;gnomAD_exome_ASJ=0.6796;gnomAD_exome_EAS=0.7088;gnomAD_exome_FIN=0.7475;gnomAD_exome_NFE=0.6784;gnomAD_exome_OTH=0.6627;gnomAD_exome_SAS=0.7272;gnomAD_genome_ALL=0.6683;gnomAD_genome_AFR=0.6130;gnomAD_genome_AMR=0.5800;gnomAD_genome_ASJ=0.6722;gnomAD_genome_EAS=0.7079;gnomAD_genome_FIN=0.7275;gnomAD_genome_NFE=0.6863;gnomAD_genome_OTH=0.6844;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:445:4:114:437:13004:-962.264,-123.659,0 -chr11 2869188 . C T 7004.51 . AB=0.478081;ABP=8.05552;AC=1;AF=0.5;AN=2;AO=578;CIGAR=1X;DP=1209;DPB=1209;DPRA=0;EPP=144.404;EPPR=47.2629;GTI=0;LEN=1;MEANALT=3;MQM=28.019;MQMR=26.3087;NS=1;NUMALT=1;ODDS=1612.85;PAIRED=0.854671;PAIREDR=0.883362;PAO=0;PQA=0;PQR=0;PRO=0;QA=15532;QR=17907;RO=583;RPL=412;RPP=230.361;RPPR=83.4963;RPR=166;RUN=1;SAF=208;SAP=101.606;SAR=370;SRF=221;SRP=77.0601;SRR=362;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;cytoBand=11p15.4;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;1000g2015aug_all=0.0832668;avsnp147=rs11601907;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;ExAC_ALL=0.2607;ExAC_AFR=0.0759;ExAC_AMR=0.2044;ExAC_EAS=0.0012;ExAC_FIN=0.4646;ExAC_NFE=0.3658;ExAC_OTH=0.2180;ExAC_SAS=0.1257;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1725;gnomAD_exome_AFR=0.0410;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.1796;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.2710;gnomAD_exome_NFE=0.2550;gnomAD_exome_OTH=0.1786;gnomAD_exome_SAS=0.0933;gnomAD_genome_ALL=0.1875;gnomAD_genome_AFR=0.0512;gnomAD_genome_AMR=0.1313;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2698;gnomAD_genome_NFE=0.2676;gnomAD_genome_OTH=0.2366;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1209:583:17907:578:15532:-756.324,0,-800.932 -chr11 6630028 . TCCCCCA TCCCCA 31419.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1421;CIGAR=1M1D5M;DP=1554;DPB=1429.14;DPRA=0;EPP=389.641;EPPR=5.18177;GTI=0;LEN=1;MEANALT=50;MQM=35.4455;MQMR=23;NS=1;NUMALT=1;ODDS=2178.13;PAIRED=0.949331;PAIREDR=1;PAO=85;PQA=2200;PQR=1917;PRO=73;QA=36671;QR=17;RO=1;RPL=727;RPP=4.67443;RPPR=5.18177;RPR=694;RUN=1;SAF=597;SAP=81.7533;SAR=824;SRF=1;SRP=5.18177;SRR=0;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs11314683;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1554:1:17:1421:36671:-3193.58,-518.133,0 -chr11 6630410 . T C 10715.5 . AB=0.455305;ABP=29.991;AC=1;AF=0.5;AN=2;AO=708;CIGAR=1X;DP=1555;DPB=1555;DPRA=0;EPP=47.1758;EPPR=12.0437;GTI=0;LEN=1;MEANALT=3;MQM=35.4661;MQMR=37.5826;NS=1;NUMALT=1;ODDS=2467.34;PAIRED=0.964689;PAIREDR=0.930858;PAO=0;PQA=0;PQR=0;PRO=0;QA=18893;QR=22354;RO=781;RPL=354;RPP=3.0103;RPPR=55.1951;RPR=354;RUN=1;SAF=382;SAP=12.6286;SAR=326;SRF=412;SRP=8.15121;SRR=369;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;1000g2015aug_all=0.120807;avsnp147=rs11826498;Kaviar_AF=0.205761;Kaviar_AC=31811;Kaviar_AN=154602;ExAC_ALL=0.2074;ExAC_AFR=0.0560;ExAC_AMR=0.2071;ExAC_EAS=0.1062;ExAC_FIN=0.2881;ExAC_NFE=0.2542;ExAC_OTH=0.2119;ExAC_SAS=0.1341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2113;gnomAD_exome_AFR=0.0511;gnomAD_exome_AMR=0.2026;gnomAD_exome_ASJ=0.2471;gnomAD_exome_EAS=0.1029;gnomAD_exome_FIN=0.2949;gnomAD_exome_NFE=0.2530;gnomAD_exome_OTH=0.2188;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1950;gnomAD_genome_AFR=0.0588;gnomAD_genome_AMR=0.1874;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.0968;gnomAD_genome_FIN=0.2961;gnomAD_genome_NFE=0.2603;gnomAD_genome_OTH=0.2184;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1555:781:22354:708:18893:-1085.97,0,-1399.68 -chr11 6631016 . C T 10129.2 . AB=0.476423;ABP=8.94919;AC=1;AF=0.5;AN=2;AO=586;CIGAR=1X;DP=1230;DPB=1230;DPRA=0;EPP=59.9874;EPPR=52.904;GTI=0;LEN=1;MEANALT=3;MQM=36.9915;MQMR=38.1964;NS=1;NUMALT=1;ODDS=2332.33;PAIRED=0.93686;PAIREDR=0.947195;PAO=0;PQA=0;PQR=0;PRO=0;QA=17111;QR=19104;RO=606;RPL=341;RPP=37.161;RPPR=10.5925;RPR=245;RUN=1;SAF=198;SAP=136.782;SAR=388;SRF=216;SRP=111.498;SRR=390;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;cytoBand=11p15.4;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;1000g2015aug_all=0.160144;avsnp147=rs2292195;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;ExAC_ALL=0.2269;ExAC_AFR=0.1522;ExAC_AMR=0.2443;ExAC_EAS=0.1105;ExAC_FIN=0.2913;ExAC_NFE=0.2594;ExAC_OTH=0.2247;ExAC_SAS=0.1657;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2292;gnomAD_exome_AFR=0.1460;gnomAD_exome_AMR=0.2371;gnomAD_exome_ASJ=0.2539;gnomAD_exome_EAS=0.1078;gnomAD_exome_FIN=0.2976;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2348;gnomAD_exome_SAS=0.1666;gnomAD_genome_ALL=0.2265;gnomAD_genome_AFR=0.1492;gnomAD_genome_AMR=0.2231;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1011;gnomAD_genome_FIN=0.2987;gnomAD_genome_NFE=0.2689;gnomAD_genome_OTH=0.2235;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.230038::0.178556;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1230:606:19104:586:17111:-1043.83,0,-1223.51 -chr11 47354787 . C T 10096 . AB=0.454097;ABP=32.7138;AC=1;AF=0.5;AN=2;AO=737;CIGAR=1X;DP=1623;DPB=1623;DPRA=0;EPP=4.85178;EPPR=3.01297;GTI=0;LEN=1;MEANALT=3;MQM=33.5536;MQMR=35.3137;NS=1;NUMALT=1;ODDS=2324.69;PAIRED=0.877883;PAIREDR=0.924969;PAO=0;PQA=0;PQR=0;PRO=0;QA=19581;QR=25146;RO=813;RPL=268;RPP=122.046;RPPR=251.474;RPR=469;RUN=1;SAF=487;SAP=168.505;SAR=250;SRF=500;SRP=96.4103;SRR=313;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;cytoBand=11p11.2;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;1000g2015aug_all=0.476238;avsnp147=rs1052373;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;ExAC_ALL=0.4707;ExAC_AFR=0.5417;ExAC_AMR=0.5499;ExAC_EAS=0.7248;ExAC_FIN=0.5246;ExAC_NFE=0.3910;ExAC_OTH=0.3691;ExAC_SAS=0.5002;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4018;gnomAD_exome_AFR=0.5011;gnomAD_exome_AMR=0.4434;gnomAD_exome_ASJ=0.2603;gnomAD_exome_EAS=0.6981;gnomAD_exome_FIN=0.4259;gnomAD_exome_NFE=0.3187;gnomAD_exome_OTH=0.3333;gnomAD_exome_SAS=0.4666;gnomAD_genome_ALL=0.3986;gnomAD_genome_AFR=0.4834;gnomAD_genome_AMR=0.4010;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6979;gnomAD_genome_FIN=0.4185;gnomAD_genome_NFE=0.3157;gnomAD_genome_OTH=0.3914;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.344697::-0.2176;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.156785;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1623:813:25146:737:19581:-1047.75,0,-1517.3 -chr11 47369443 . G A 3454.25 . AB=0.432285;ABP=32.1247;AC=1;AF=0.5;AN=2;AO=316;CIGAR=1X;DP=731;DPB=731;DPRA=0;EPP=3.03779;EPPR=30.0159;GTI=0;LEN=1;MEANALT=3;MQM=26.4557;MQMR=24.5305;NS=1;NUMALT=1;ODDS=795.37;PAIRED=0.734177;PAIREDR=0.756345;PAO=0;PQA=0;PQR=0;PRO=0;QA=8689;QR=11973;RO=394;RPL=182;RPP=18.8428;RPPR=34.8439;RPR=134;RUN=1;SAF=165;SAP=4.35716;SAR=151;SRF=197;SRP=3.0103;SRR=197;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;cytoBand=11p11.2;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;1000g2015aug_all=0.0611022;avsnp147=rs11570058;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;ExAC_ALL=0.1542;ExAC_AFR=0.0737;ExAC_AMR=0.1264;ExAC_EAS=0.0410;ExAC_FIN=0.3043;ExAC_NFE=0.2120;ExAC_OTH=0.1164;ExAC_SAS=0.0824;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0901;gnomAD_exome_AFR=0.0422;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.0931;gnomAD_exome_EAS=0.0160;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1256;gnomAD_exome_OTH=0.1013;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.0890;gnomAD_genome_AFR=0.0402;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.1229;gnomAD_genome_NFE=0.1173;gnomAD_genome_OTH=0.1207;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:731:394:11973:316:8689:-356.577,0,-510.41 -chr11 47370041 . T C 12523.9 . AB=0.509653;ABP=4.26791;AC=1;AF=0.5;AN=2;AO=792;CIGAR=1X;DP=1554;DPB=1554;DPRA=0;EPP=59.8634;EPPR=6.5162;GTI=0;LEN=1;MEANALT=3;MQM=33.0164;MQMR=36.4553;NS=1;NUMALT=1;ODDS=2883.74;PAIRED=0.900253;PAIREDR=0.872905;PAO=0;PQA=0;PQR=0;PRO=0;QA=22229;QR=22005;RO=716;RPL=485;RPP=89.8802;RPPR=155.183;RPR=307;RUN=1;SAF=367;SAP=12.2336;SAR=425;SRF=341;SRP=6.5162;SRR=375;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon6:c.A706G:p.S236G;cytoBand=11p11.2;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;1000g2015aug_all=0.0670927;avsnp147=rs3729989;Kaviar_AF=0.100898;Kaviar_AC=15599;Kaviar_AN=154602;ExAC_ALL=0.1079;ExAC_AFR=0.0621;ExAC_AMR=0.0481;ExAC_EAS=0.0308;ExAC_FIN=0.1390;ExAC_NFE=0.1393;ExAC_OTH=0.1052;ExAC_SAS=0.0753;CLNALLELEID=51956;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.655;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=0.243;CADD_phred=5.127;DANN_score=0.220;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.420;phastCons7way_vertebrate=0.719;phastCons20way_mammalian=0.448;SiPhy_29way_logOdds=13.832;hgmdPRO=id:CM043536#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0969;gnomAD_exome_AFR=0.0539;gnomAD_exome_AMR=0.0459;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0293;gnomAD_exome_FIN=0.1203;gnomAD_exome_NFE=0.1305;gnomAD_exome_OTH=0.1105;gnomAD_exome_SAS=0.0680;gnomAD_genome_ALL=0.0957;gnomAD_genome_AFR=0.0535;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0321;gnomAD_genome_FIN=0.1262;gnomAD_genome_NFE=0.1209;gnomAD_genome_OTH=0.1235;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.100379::-0.215729;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1554:716:22005:792:22229:-1276.94,0,-1322.54 -chr11 118037813 . G T 14113.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=800;CIGAR=1X;DP=891;DPB=891;DPRA=0;EPP=9.26414;EPPR=35.7339;GTI=0;LEN=1;MEANALT=3;MQM=32.8312;MQMR=29.5698;NS=1;NUMALT=1;ODDS=702.076;PAIRED=0.94375;PAIREDR=0.94186;PAO=0;PQA=0;PQR=0;PRO=0;QA=20668;QR=1568;RO=86;RPL=569;RPP=313.107;RPPR=5.53527;RPR=231;RUN=1;SAF=215;SAP=374.604;SAR=585;SRF=25;SRP=35.7339;SRR=61;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.3;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;1000g2015aug_all=0.514377;avsnp147=rs8192613;Kaviar_AF=0.489121;Kaviar_AC=75619;Kaviar_AN=154602;ExAC_ALL=0.5022;ExAC_AFR=0.3677;ExAC_AMR=0.4808;ExAC_EAS=0.7731;ExAC_FIN=0.5623;ExAC_NFE=0.4739;ExAC_OTH=0.5190;ExAC_SAS=0.5480;CLNALLELEID=254012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5047;gnomAD_exome_AFR=0.3585;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.5451;gnomAD_exome_EAS=0.7742;gnomAD_exome_FIN=0.5459;gnomAD_exome_NFE=0.4661;gnomAD_exome_OTH=0.4885;gnomAD_exome_SAS=0.5510;gnomAD_genome_ALL=0.4615;gnomAD_genome_AFR=0.3484;gnomAD_genome_AMR=0.4653;gnomAD_genome_ASJ=0.5596;gnomAD_genome_EAS=0.7733;gnomAD_genome_FIN=0.5592;gnomAD_genome_NFE=0.4683;gnomAD_genome_OTH=0.4663;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.479087::0.162783;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:891:86:1568:800:20668:-1477,-147.32,0 -chr11 123504959 . C G 11745.8 . AB=0.462715;ABP=21.9557;AC=1;AF=0.5;AN=2;AO=726;CIGAR=1X;DP=1569;DPB=1569;DPRA=0;EPP=3.05816;EPPR=14.1851;GTI=0;LEN=1;MEANALT=3;MQM=37.3719;MQMR=38.2424;NS=1;NUMALT=1;ODDS=2704.57;PAIRED=0.953168;PAIREDR=0.929354;PAO=0;PQA=0;PQR=0;PRO=0;QA=19938;QR=25191;RO=821;RPL=507;RPP=251.097;RPPR=154.09;RPR=219;RUN=1;SAF=350;SAP=5.03222;SAR=376;SRF=437;SRP=10.4399;SRR=384;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.1;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;1000g2015aug_all=0.750599;avsnp147=rs1148110;Kaviar_AF=0.605458;Kaviar_AC=93605;Kaviar_AN=154602;ExAC_ALL=0.6276;ExAC_AFR=0.9085;ExAC_AMR=0.5889;ExAC_EAS=0.7535;ExAC_FIN=0.4958;ExAC_NFE=0.5550;ExAC_OTH=0.6176;ExAC_SAS=0.7542;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6185;gnomAD_exome_AFR=0.9133;gnomAD_exome_AMR=0.5986;gnomAD_exome_ASJ=0.6428;gnomAD_exome_EAS=0.7563;gnomAD_exome_FIN=0.4834;gnomAD_exome_NFE=0.5519;gnomAD_exome_OTH=0.5862;gnomAD_exome_SAS=0.7502;gnomAD_genome_ALL=0.6546;gnomAD_genome_AFR=0.9078;gnomAD_genome_AMR=0.6074;gnomAD_genome_ASJ=0.6040;gnomAD_genome_EAS=0.7460;gnomAD_genome_FIN=0.4983;gnomAD_genome_NFE=0.5424;gnomAD_genome_OTH=0.5774;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1569:821:25191:726:19938:-1209.8,0,-1634.25 -chr11 128781339 . T C 27611 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1170;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=159.096;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=35.0077;MQMR=40;NS=1;NUMALT=1;ODDS=1606.59;PAIRED=0.905983;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=35583;QR=59;RO=2;RPL=454;RPP=130.411;RPPR=7.35324;RPR=716;RUN=1;SAF=596;SAP=3.90858;SAR=574;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;cytoBand=11q24.3;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;1000g2015aug_all=0.869808;avsnp147=rs6590357;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;ExAC_ALL=0.8436;ExAC_AFR=0.8982;ExAC_AMR=0.8065;ExAC_EAS=0.8790;ExAC_FIN=0.7900;ExAC_NFE=0.8296;ExAC_OTH=0.8256;ExAC_SAS=0.8953;CLNALLELEID=141693;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8400;gnomAD_exome_AFR=0.9041;gnomAD_exome_AMR=0.8139;gnomAD_exome_ASJ=0.8466;gnomAD_exome_EAS=0.8801;gnomAD_exome_FIN=0.7931;gnomAD_exome_NFE=0.8274;gnomAD_exome_OTH=0.8384;gnomAD_exome_SAS=0.8920;gnomAD_genome_ALL=0.8476;gnomAD_genome_AFR=0.9048;gnomAD_genome_AMR=0.8162;gnomAD_genome_ASJ=0.8179;gnomAD_genome_EAS=0.8915;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8249;gnomAD_genome_OTH=0.8218;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:2:59:1170:35583:-2793.48,-347.557,0 -chr11 128781978 . T G 20667.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=983;CIGAR=1X;DP=1016;DPB=1016;DPRA=0;EPP=36.4307;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=33.3561;MQMR=28.55;NS=1;NUMALT=1;ODDS=1233.34;PAIRED=0.948118;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=26685;QR=406;RO=20;RPL=415;RPP=54.7214;RPPR=3.44459;RPR=568;RUN=1;SAF=585;SAP=80.2577;SAR=398;SRF=8;SRP=4.74748;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;cytoBand=11q24.3;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;1000g2015aug_all=0.866214;avsnp147=rs7118824;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;ExAC_ALL=0.8414;ExAC_AFR=0.8897;ExAC_AMR=0.8056;ExAC_EAS=0.8791;ExAC_FIN=0.7893;ExAC_NFE=0.8277;ExAC_OTH=0.8234;ExAC_SAS=0.8940;CLNALLELEID=141694;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8381;gnomAD_exome_AFR=0.8941;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8465;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.7928;gnomAD_exome_NFE=0.8250;gnomAD_exome_OTH=0.8357;gnomAD_exome_SAS=0.8909;gnomAD_genome_ALL=0.8424;gnomAD_genome_AFR=0.8930;gnomAD_genome_AMR=0.8150;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7990;gnomAD_genome_NFE=0.8212;gnomAD_genome_OTH=0.8203;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.275185;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1016:20:406:983:26685:-2084.95,-270.412,0 -chr11 128782002 . T C 22487.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1075;CIGAR=1X;DP=1122;DPB=1122;DPRA=0;EPP=178.799;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=33.4195;MQMR=33.125;NS=1;NUMALT=1;ODDS=1359.06;PAIRED=0.96093;PAIREDR=0.6875;PAO=0;PQA=0;PQR=0;PRO=0;QA=29424;QR=438;RO=16;RPL=392;RPP=174.064;RPPR=3.55317;RPR=683;RUN=1;SAF=576;SAP=14.9867;SAR=499;SRF=9;SRP=3.55317;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;cytoBand=11q24.3;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;1000g2015aug_all=0.867013;avsnp147=rs7118833;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;ExAC_ALL=0.8416;ExAC_AFR=0.8925;ExAC_AMR=0.8054;ExAC_EAS=0.8790;ExAC_FIN=0.7895;ExAC_NFE=0.8276;ExAC_OTH=0.8227;ExAC_SAS=0.8941;CLNALLELEID=141695;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8383;gnomAD_exome_AFR=0.8973;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8464;gnomAD_exome_EAS=0.8799;gnomAD_exome_FIN=0.7930;gnomAD_exome_NFE=0.8248;gnomAD_exome_OTH=0.8361;gnomAD_exome_SAS=0.8911;gnomAD_genome_ALL=0.8435;gnomAD_genome_AFR=0.8970;gnomAD_genome_AMR=0.8182;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8211;gnomAD_genome_OTH=0.8193;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.176471::-0.277257;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1122:16:438:1075:29424:-2287.46,-292.617,0 -chr11 128782012 . C G 23484 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1077;CIGAR=1X;DP=1113;DPB=1113;DPRA=0;EPP=234.717;EPPR=22.5536;GTI=0;LEN=1;MEANALT=3;MQM=33.8626;MQMR=25.1111;NS=1;NUMALT=1;ODDS=1444.9;PAIRED=0.957289;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=30381;QR=157;RO=9;RPL=378;RPP=210.764;RPPR=9.04217;RPR=699;RUN=1;SAF=549;SAP=3.89945;SAR=528;SRF=2;SRP=9.04217;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;cytoBand=11q24.3;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;1000g2015aug_all=0.995008;avsnp147=rs7102584;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;ExAC_ALL=0.9865;ExAC_AFR=0.9976;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=0.9761;ExAC_NFE=0.9791;ExAC_OTH=0.9912;ExAC_SAS=0.9986;CLNALLELEID=141696;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.825;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_pred=N;VEST3_score=0.022;CADD_raw=0.157;CADD_phred=4.219;DANN_score=0.396;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=0.136;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=16.452;hgmdPRO=id:CM141559#"Altered_channel_function";gnomAD_exome_ALL=0.9877;gnomAD_exome_AFR=0.9976;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=0.9978;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9792;gnomAD_exome_NFE=0.9792;gnomAD_exome_OTH=0.9880;gnomAD_exome_SAS=0.9983;gnomAD_genome_ALL=0.9849;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9728;gnomAD_genome_NFE=0.9776;gnomAD_genome_OTH=0.9805;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1113:9:157:1077:30381:-2392.94,-315.325,0 -chr11 128786294 . G A 6522.25 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=332;CIGAR=1X;DP=345;DPB=345;DPRA=0;EPP=20.696;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=31.744;MQMR=25;NS=1;NUMALT=1;ODDS=452.636;PAIRED=0.804217;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8910;QR=68;RO=2;RPL=77;RPP=210.242;RPPR=7.35324;RPR=255;RUN=1;SAF=217;SAP=71.0585;SAR=115;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.3;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;1000g2015aug_all=0.735823;avsnp147=rs4937391;Kaviar_AF=0.724635;Kaviar_AC=112030;Kaviar_AN=154602;ExAC_ALL=0.7346;ExAC_AFR=0.7904;ExAC_AMR=0.6993;ExAC_EAS=0.6672;ExAC_FIN=0.6839;ExAC_NFE=0.7338;ExAC_OTH=0.7307;ExAC_SAS=0.7833;CLNALLELEID=141698;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7310;gnomAD_exome_AFR=0.7927;gnomAD_exome_AMR=0.7094;gnomAD_exome_ASJ=0.7615;gnomAD_exome_EAS=0.6637;gnomAD_exome_FIN=0.6840;gnomAD_exome_NFE=0.7323;gnomAD_exome_OTH=0.7409;gnomAD_exome_SAS=0.7798;gnomAD_genome_ALL=0.7394;gnomAD_genome_AFR=0.7966;gnomAD_genome_AMR=0.7022;gnomAD_genome_ASJ=0.7219;gnomAD_genome_EAS=0.6720;gnomAD_genome_FIN=0.6878;gnomAD_genome_NFE=0.7287;gnomAD_genome_OTH=0.7274;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:345:2:68:332:8910:-684.939,-96.9722,0 -chr12 2558298 . GTT ATC 6629.87 . AB=0.455939;ABP=16.2139;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X1M1X;DP=783;DPB=790.667;DPRA=0;EPP=53.3799;EPPR=8.95572;GTI=0;LEN=3;MEANALT=21;MQM=37.8319;MQMR=39.1551;NS=1;NUMALT=1;ODDS=1526.58;PAIRED=0.952381;PAIREDR=0.954545;PAO=11;PQA=202;PQR=27;PRO=1;QA=10736;QR=11424;RO=374;RPL=253;RPP=138.049;RPPR=101.133;RPR=104;RUN=1;SAF=133;SAP=53.3799;SAR=224;SRF=169;SRP=10.535;SRR=205;TYPE=complex;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386759537;Kaviar_AF=0.009159;Kaviar_AC=1416;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:783:374:11424:357:10736:-694.768,0,-760.906 -chr12 2659082 . G T 6377.76 . AB=0.465011;ABP=12.4315;AC=1;AF=0.5;AN=2;AO=412;CIGAR=1X;DP=886;DPB=886;DPRA=0;EPP=4.71796;EPPR=5.77749;GTI=0;LEN=1;MEANALT=3;MQM=32.7573;MQMR=35.7279;NS=1;NUMALT=1;ODDS=1468.53;PAIRED=0.929612;PAIREDR=0.946903;PAO=0;PQA=0;PQR=0;PRO=0;QA=11855;QR=13369;RO=452;RPL=170;RPP=30.3329;RPPR=32.2387;RPR=242;RUN=1;SAF=253;SAP=49.581;SAR=159;SRF=267;SRP=35.3134;SRR=185;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;1000g2015aug_all=0.294928;avsnp147=rs11062272;Kaviar_AF=0.208788;Kaviar_AC=32279;Kaviar_AN=154602;ExAC_ALL=0.3187;ExAC_AFR=0.4700;ExAC_AMR=0.3845;ExAC_EAS=0.3268;ExAC_FIN=0.3470;ExAC_NFE=0.3105;ExAC_OTH=0.3165;ExAC_SAS=0.2350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2417;gnomAD_exome_AFR=0.4338;gnomAD_exome_AMR=0.2376;gnomAD_exome_ASJ=0.2832;gnomAD_exome_EAS=0.2254;gnomAD_exome_FIN=0.2151;gnomAD_exome_NFE=0.2304;gnomAD_exome_OTH=0.2519;gnomAD_exome_SAS=0.2108;gnomAD_genome_ALL=0.2825;gnomAD_genome_AFR=0.4255;gnomAD_genome_AMR=0.2291;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.2302;gnomAD_genome_FIN=0.2084;gnomAD_genome_NFE=0.2286;gnomAD_genome_OTH=0.2398;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:886:452:13369:412:11855:-653.559,0,-814.738 -chr12 2706720 . G C 23014.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=999;CIGAR=1X;DP=1031;DPB=1031;DPRA=0;EPP=103.487;EPPR=19.0002;GTI=0;LEN=1;MEANALT=3;MQM=36.955;MQMR=29.5455;NS=1;NUMALT=1;ODDS=1327.04;PAIRED=0.971972;PAIREDR=0.818182;PAO=0;PQA=0;PQR=0;PRO=0;QA=28196;QR=167;RO=11;RPL=445;RPP=28.8354;RPPR=7.94546;RPR=554;RUN=1;SAF=497;SAP=3.06464;SAR=502;SRF=2;SRP=12.6832;SRR=9;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;1000g2015aug_all=0.951278;avsnp147=rs215983;Kaviar_AF=0.186485;Kaviar_AC=28831;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9530;gnomAD_genome_AFR=0.8848;gnomAD_genome_AMR=0.9785;gnomAD_genome_ASJ=0.9570;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9888;gnomAD_genome_NFE=0.9762;gnomAD_genome_OTH=0.9745;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1031:11:167:999:28196:-2313.98,-290.773,0 -chr12 2721137 . C T 13934 . AB=0.486741;ABP=5.60148;AC=1;AF=0.5;AN=2;AO=826;CIGAR=1X;DP=1697;DPB=1697;DPRA=0;EPP=34.82;EPPR=49.0392;GTI=0;LEN=1;MEANALT=3;MQM=35.4649;MQMR=36.8345;NS=1;NUMALT=1;ODDS=3208.43;PAIRED=0.949153;PAIREDR=0.935523;PAO=0;PQA=0;PQR=0;PRO=0;QA=23699;QR=25452;RO=822;RPL=401;RPP=4.52455;RPPR=4.53192;RPR=425;RUN=1;SAF=433;SAP=7.21654;SAR=393;SRF=418;SRP=3.52807;SRR=404;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.259185;avsnp147=rs216008;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;ExAC_ALL=0.2095;ExAC_AFR=0.2357;ExAC_AMR=0.2124;ExAC_EAS=0.3527;ExAC_FIN=0.1621;ExAC_NFE=0.1852;ExAC_OTH=0.2201;ExAC_SAS=0.2337;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2336;gnomAD_exome_AMR=0.2170;gnomAD_exome_ASJ=0.2365;gnomAD_exome_EAS=0.3519;gnomAD_exome_FIN=0.1596;gnomAD_exome_NFE=0.1838;gnomAD_exome_OTH=0.2140;gnomAD_exome_SAS=0.2313;gnomAD_genome_ALL=0.2088;gnomAD_genome_AFR=0.2347;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.3688;gnomAD_genome_FIN=0.1554;gnomAD_genome_NFE=0.1901;gnomAD_genome_OTH=0.1878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1697:822:25452:826:23699:-1405.54,0,-1583.9 -chr12 2788879 . G A 17411.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=903;CIGAR=1X;DP=1011;DPB=1011;DPRA=0;EPP=52.1847;EPPR=24.5973;GTI=0;LEN=1;MEANALT=3;MQM=30.4729;MQMR=26.0588;NS=1;NUMALT=1;ODDS=1153.48;PAIRED=0.888151;PAIREDR=0.411765;PAO=0;PQA=0;PQR=0;PRO=0;QA=24999;QR=399;RO=17;RPL=589;RPP=184.868;RPPR=13.3567;RPR=314;RUN=1;SAF=308;SAP=201.086;SAR=595;SRF=6;SRP=6.20364;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;cytoBand=12p13.33;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;1000g2015aug_all=0.526358;avsnp147=rs1051375;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;ExAC_ALL=0.6953;ExAC_AFR=0.2792;ExAC_AMR=0.7421;ExAC_EAS=0.6592;ExAC_FIN=0.7857;ExAC_NFE=0.7349;ExAC_OTH=0.7116;ExAC_SAS=0.6798;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6777;gnomAD_exome_AFR=0.2338;gnomAD_exome_AMR=0.7052;gnomAD_exome_ASJ=0.6642;gnomAD_exome_EAS=0.6223;gnomAD_exome_FIN=0.7618;gnomAD_exome_NFE=0.7229;gnomAD_exome_OTH=0.6807;gnomAD_exome_SAS=0.6643;gnomAD_genome_ALL=0.5917;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6258;gnomAD_genome_FIN=0.7738;gnomAD_genome_NFE=0.7396;gnomAD_genome_OTH=0.7072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1011:17:399:903:24999:-1783.66,-252.019,0 -chr12 2791130 . CGA TGG 24042.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1110;CIGAR=1X1M1X;DP=1205;DPB=1207.33;DPRA=0;EPP=3.292;EPPR=4.09604;GTI=0;LEN=3;MEANALT=17;MQM=33.5306;MQMR=32.375;NS=1;NUMALT=1;ODDS=1475.29;PAIRED=0.918018;PAIREDR=1;PAO=2;PQA=53;PQR=23;PRO=1;QA=31146;QR=223;RO=8;RPL=628;RPP=44.7104;RPPR=12.7819;RPR=482;RUN=1;SAF=621;SAP=37.0965;SAR=489;SRF=6;SRP=7.35324;SRR=2;TYPE=complex;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.5459_5461TGG,CACNA1C:NM_001167624:exon43:c.5459_5461TGG,CACNA1C:NM_199460:exon45:c.5603_5605TGG;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71441836;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:1205:8:223:1110:31146:-2413.63,-318.802,0 -chr12 2791205 . A G 19085.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=908;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=3.62252;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=31.9394;MQMR=18.3333;NS=1;NUMALT=1;ODDS=1243.88;PAIRED=0.944934;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=25603;QR=64;RO=3;RPL=497;RPP=20.6978;RPPR=3.73412;RPR=411;RUN=1;SAF=485;SAP=12.2032;SAR=423;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;cytoBand=12p13.33;esp6500siv2_all=0.9998;esp6500siv2_ea=1;esp6500siv2_all=0.9998;esp6500siv2_ea=1;1000g2015aug_all=1;avsnp147=rs10774054;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;ExAC_ALL=0.9999;ExAC_AFR=0.9988;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9999;gnomAD_exome_AFR=0.9988;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:942:3:64:908:25603:-1914.24,-270.315,0 -chr12 2795019 . C T 149.262 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=12;CIGAR=1X;DP=17;DPB=17;DPRA=0;EPP=5.9056;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=20.8333;MQMR=9;NS=1;NUMALT=1;ODDS=14.8703;PAIRED=1;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=338;QR=150;RO=5;RPL=8;RPP=5.9056;RPPR=3.44459;RPR=4;RUN=1;SAF=4;SAP=5.9056;SAR=8;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs66611965;Kaviar_AF=0.017613;Kaviar_AC=2723;Kaviar_AN=154602;ExAC_ALL=0.0216;ExAC_AFR=0.0812;ExAC_AMR=0.0100;ExAC_EAS=0.0186;ExAC_FIN=0.0316;ExAC_NFE=0.0166;ExAC_OTH=0.0262;ExAC_SAS=0.0118;CLNALLELEID=99325;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0302;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0047;gnomAD_exome_FIN=0.0134;gnomAD_exome_NFE=0.0070;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:17:5:150:12:338:-15.562,-1.0146,0 -chr12 5153946 . G C 5964.14 . AB=0.46412;ABP=12.6713;AC=1;AF=0.5;AN=2;AO=401;CIGAR=1X;DP=864;DPB=864;DPRA=0;EPP=5.87491;EPPR=3.13014;GTI=0;LEN=1;MEANALT=3;MQM=31.4389;MQMR=32.8565;NS=1;NUMALT=1;ODDS=1373.29;PAIRED=0.925187;PAIREDR=0.9117;PAO=0;PQA=0;PQR=0;PRO=0;QA=11647;QR=14181;RO=453;RPL=189;RPP=5.87491;RPPR=17.5108;RPR=212;RUN=1;SAF=233;SAP=25.8893;SAR=168;SRF=263;SRP=28.5551;SRR=190;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G633C:p.E211D;cytoBand=12p13.32;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs35853292;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0003;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=189348;CLNDN=Primary_pulmonary_hypertension|Atrial_fibrillation,_familial,_7|not_specified;CLNDISDB=MedGen:C0152171,OMIM:178600,SNOMED_CT:26174007|MedGen:C2677106,OMIM:612240|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.157;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.800;MutationTaster_pred=D;MutationAssessor_score=1.055;MutationAssessor_pred=L;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.145;CADD_raw=1.435;CADD_phred=12.97;DANN_score=0.984;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.632;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=2.84;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.753;SiPhy_29way_logOdds=9.598;hgmdPRO=id:CM102357#"Pulmonary_arterial_hypertension";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.974e-05;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0010;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:864:453:14181:401:11647:-607.729,0,-800.05 -chr12 22017422 . A G 25969.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1025;CIGAR=1X;DP=1072;DPB=1072;DPRA=0;EPP=3.06326;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=40.0234;MQMR=11.6667;NS=1;NUMALT=1;ODDS=1411.86;PAIRED=0.97561;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=30413;QR=71;RO=3;RPL=634;RPP=128.106;RPPR=9.52472;RPR=391;RUN=1;SAF=476;SAP=14.2998;SAR=549;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.9981;esp6500siv2_ea=1;esp6500siv2_all=0.9981;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697250;Kaviar_AF=0.941288;Kaviar_AC=145525;Kaviar_AN=154602;ExAC_ALL=0.9995;ExAC_AFR=0.9945;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=54569;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9996;gnomAD_exome_AFR=0.9941;gnomAD_exome_AMR=0.9997;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9998;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1072:3:71:1025:30413:-2612.83,-307.253,0 -chr12 22017486 . C G 16440.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=626;CIGAR=1X;DP=642;DPB=642;DPRA=0;EPP=9.72591;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=40.1358;MQMR=24;NS=1;NUMALT=1;ODDS=866.633;PAIRED=0.988818;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=19612;QR=14;RO=1;RPL=434;RPP=206.157;RPPR=5.18177;RPR=192;RUN=1;SAF=191;SAP=209.529;SAR=435;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.9980;esp6500siv2_ea=1;esp6500siv2_all=0.9980;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697251;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:642:1:14:626:19612:-1690.31,-187.522,0 -chr12 22063115 . A G 4898.94 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=224;CIGAR=1X;DP=241;DPB=241;DPRA=0;EPP=3.16541;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.817;MQMR=3;NS=1;NUMALT=1;ODDS=312.611;PAIRED=0.941964;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6272;QR=14;RO=1;RPL=55;RPP=128.994;RPPR=5.18177;RPR=169;RUN=1;SAF=163;SAP=103.867;SAR=61;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;cytoBand=12p12.1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;1000g2015aug_all=0.997204;avsnp147=rs10770865;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;ExAC_ALL=0.9990;ExAC_AFR=0.9899;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9993;gnomAD_exome_AFR=0.9903;gnomAD_exome_AMR=0.9993;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9973;gnomAD_genome_AFR=0.9905;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:241:1:14:224:6272:-516.387,-67.4827,0 -chr12 22063251 . CAAAAAAAAAAAAAAG CAAAAAAAAAAAAAG 513.186 . AB=0.247492;ABP=168.601;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1M1D14M;DP=299;DPB=319.062;DPRA=0;EPP=4.88833;EPPR=3.0471;GTI=0;LEN=1;MEANALT=53;MQM=29.9054;MQMR=28.8814;NS=1;NUMALT=1;ODDS=115.233;PAIRED=0.945946;PAIREDR=0.915254;PAO=25.5;PQA=547.5;PQR=554.5;PRO=25.5;QA=1568;QR=1823;RO=59;RPL=23;RPP=26.0162;RPPR=3.0471;RPR=51;RUN=1;SAF=52;SAP=29.4201;SAR=22;SRF=35;SRP=7.46366;SRR=24;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.375799;avsnp147=rs35857705;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.4407;ExAC_AFR=0.4100;ExAC_AMR=0.4601;ExAC_EAS=0.3995;ExAC_FIN=0.4598;ExAC_NFE=0.4473;ExAC_OTH=0.4098;ExAC_SAS=0.4289;CLNALLELEID=44291;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4361;gnomAD_exome_AFR=0.4041;gnomAD_exome_AMR=0.4520;gnomAD_exome_ASJ=0.4030;gnomAD_exome_EAS=0.3864;gnomAD_exome_FIN=0.4530;gnomAD_exome_NFE=0.4459;gnomAD_exome_OTH=0.4387;gnomAD_exome_SAS=0.4215;gnomAD_genome_ALL=0.4205;gnomAD_genome_AFR=0.3644;gnomAD_genome_AMR=0.5097;gnomAD_genome_ASJ=0.3495;gnomAD_genome_EAS=0.2597;gnomAD_genome_FIN=0.4432;gnomAD_genome_NFE=0.4674;gnomAD_genome_OTH=0.4213;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:299:59:1823:74:1568:-63.1385,0,-56.9749 -chr12 22068849 . G T 4184.39 . AB=0.471624;ABP=6.58409;AC=1;AF=0.5;AN=2;AO=241;CIGAR=1X;DP=511;DPB=511;DPRA=0;EPP=3.4518;EPPR=3.21211;GTI=0;LEN=1;MEANALT=2;MQM=40.4149;MQMR=40.7398;NS=1;NUMALT=1;ODDS=963.49;PAIRED=0.979253;PAIREDR=0.95539;PAO=0;PQA=0;PQR=0;PRO=0;QA=7080;QR=7989;RO=269;RPL=199;RPP=225.104;RPPR=342.252;RPR=42;RUN=1;SAF=75;SAP=77.6243;SAR=166;SRF=100;SRP=41.4429;SRR=169;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;1000g2015aug_all=0.644768;avsnp147=rs3759236;Kaviar_AF=0.600891;Kaviar_AC=92899;Kaviar_AN=154602;ExAC_ALL=0.6138;ExAC_AFR=0.5909;ExAC_AMR=0.5394;ExAC_EAS=0.7864;ExAC_FIN=0.5943;ExAC_NFE=0.6025;ExAC_OTH=0.6528;ExAC_SAS=0.6397;CLNALLELEID=54586;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6099;gnomAD_exome_AFR=0.5824;gnomAD_exome_AMR=0.5415;gnomAD_exome_ASJ=0.7059;gnomAD_exome_EAS=0.7896;gnomAD_exome_FIN=0.5925;gnomAD_exome_NFE=0.5915;gnomAD_exome_OTH=0.6214;gnomAD_exome_SAS=0.6432;gnomAD_genome_ALL=0.5992;gnomAD_genome_AFR=0.5788;gnomAD_genome_AMR=0.5538;gnomAD_genome_ASJ=0.7467;gnomAD_genome_EAS=0.8065;gnomAD_genome_FIN=0.5870;gnomAD_genome_NFE=0.5917;gnomAD_genome_OTH=0.5902;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:511:269:7989:241:7080:-457.764,0,-539.936 -chr12 32945486 . G T 13180.3 . AB=0.494691;ABP=3.40228;AC=1;AF=0.5;AN=2;AO=792;CIGAR=1X;DP=1601;DPB=1601;DPRA=0;EPP=246.489;EPPR=166.552;GTI=0;LEN=1;MEANALT=3;MQM=37.8788;MQMR=38.7804;NS=1;NUMALT=1;ODDS=3034.87;PAIRED=0.984848;PAIREDR=0.977415;PAO=0;PQA=0;PQR=0;PRO=0;QA=21839;QR=23065;RO=797;RPL=426;RPP=12.8806;RPPR=73.6336;RPR=366;RUN=1;SAF=341;SAP=36.1856;SAR=451;SRF=369;SRP=12.4945;SRR=428;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;1000g2015aug_all=0.0339457;avsnp147=rs113493546;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0395;gnomAD_genome_AFR=0.0612;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0074;gnomAD_genome_FIN=0.0644;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0347;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1601:797:23065:792:21839:-1355.61,0,-1466.44 -chr12 32945495 . C T 36420.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1543;CIGAR=1X;DP=1607;DPB=1607;DPRA=0;EPP=427.174;EPPR=12.2676;GTI=0;LEN=1;MEANALT=3;MQM=38.4388;MQMR=40.5263;NS=1;NUMALT=1;ODDS=1974.01;PAIRED=0.979909;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=44319;QR=510;RO=19;RPL=952;RPP=186.412;RPPR=3.12459;RPR=591;RUN=1;SAF=675;SAP=55.431;SAR=868;SRF=7;SRP=5.8675;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.450479;avsnp147=rs7956824;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6077;gnomAD_genome_AFR=0.5602;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.5728;gnomAD_genome_EAS=0.2272;gnomAD_genome_FIN=0.7165;gnomAD_genome_NFE=0.6571;gnomAD_genome_OTH=0.6337;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1607:19:510:1543:44319:-3710.76,-425.214,0 -chr12 32949029 . AC AGC 4629.27 . AB=0.434728;ABP=32.2082;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1M1I1M;DP=789;DPB=977.5;DPRA=0;EPP=20.7936;EPPR=22.0333;GTI=0;LEN=1;MEANALT=15;MQM=35.4257;MQMR=35.4453;NS=1;NUMALT=1;ODDS=1065.93;PAIRED=0.965015;PAIREDR=0.979167;PAO=6.5;PQA=96.5;PQR=96.5;PRO=6.5;QA=8598;QR=11179;RO=384;RPL=158;RPP=7.62547;RPPR=37.4146;RPR=185;RUN=1;SAF=195;SAP=16.9951;SAR=148;SRF=248;SRP=73.9451;SRR=136;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;1000g2015aug_all=0.318291;avsnp147=rs149968852;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;ExAC_ALL=0.2108;ExAC_AFR=0.2881;ExAC_AMR=0.1566;ExAC_EAS=0.5462;ExAC_FIN=0.1839;ExAC_NFE=0.1396;ExAC_OTH=0.2081;ExAC_SAS=0.3236;CLNALLELEID=54237;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2891;gnomAD_exome_AMR=0.1636;gnomAD_exome_ASJ=0.1568;gnomAD_exome_EAS=0.5532;gnomAD_exome_FIN=0.1761;gnomAD_exome_NFE=0.1401;gnomAD_exome_OTH=0.1745;gnomAD_exome_SAS=0.3283;gnomAD_genome_ALL=0.2044;gnomAD_genome_AFR=0.2708;gnomAD_genome_AMR=0.1706;gnomAD_genome_ASJ=0.1733;gnomAD_genome_EAS=0.5513;gnomAD_genome_FIN=0.1713;gnomAD_genome_NFE=0.1401;gnomAD_genome_OTH=0.1892;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:789:384:11179:343:8598:-474.696,0,-676.622 -chr12 32949252 . ACA AA 210.814 . AB=0.218716;ABP=634.578;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1M1D1M;DP=919;DPB=856.333;DPRA=0;EPP=145.885;EPPR=349.766;GTI=0;LEN=1;MEANALT=21;MQM=22.0249;MQMR=37.7671;NS=1;NUMALT=1;ODDS=48.5418;PAIRED=0.905473;PAIREDR=0.973896;PAO=1;PQA=27;PQR=27;PRO=1;QA=4993;QR=14448;RO=498;RPL=68;RPP=48.6544;RPPR=57.707;RPR=133;RUN=1;SAF=95;SAP=4.3175;SAR=106;SRF=227;SRP=11.452;SRR=271;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;1000g2015aug_all=0.304912;avsnp147=rs57690055;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.1614;ExAC_AFR=0.2267;ExAC_AMR=0.1272;ExAC_EAS=0.3931;ExAC_FIN=0.1512;ExAC_NFE=0.1115;ExAC_OTH=0.1579;ExAC_SAS=0.2421;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1336;gnomAD_exome_AFR=0.2022;gnomAD_exome_AMR=0.1074;gnomAD_exome_ASJ=0.0982;gnomAD_exome_EAS=0.3656;gnomAD_exome_FIN=0.1244;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.1087;gnomAD_exome_SAS=0.1936;gnomAD_genome_ALL=0.1788;gnomAD_genome_AFR=0.2456;gnomAD_genome_AMR=0.1359;gnomAD_genome_ASJ=0.1510;gnomAD_genome_EAS=0.5310;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1204;gnomAD_genome_OTH=0.1546;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:919:498:14448:201:4993:-76.4619,0,-1000.26 -chr12 33021934 . A G 9631.3 . AB=0.474765;ABP=9.47642;AC=1;AF=0.5;AN=2;AO=555;CIGAR=1X;DP=1169;DPB=1169;DPRA=0;EPP=5.86256;EPPR=3.04337;GTI=0;LEN=1;MEANALT=3;MQM=37.4649;MQMR=38.8511;NS=1;NUMALT=1;ODDS=2217.69;PAIRED=0.920721;PAIREDR=0.949239;PAO=0;PQA=0;PQR=0;PRO=0;QA=15970;QR=18179;RO=591;RPL=344;RPP=72.2196;RPPR=131.495;RPR=211;RUN=1;SAF=248;SAP=16.6299;SAR=307;SRF=274;SRP=9.80396;SRR=317;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;cytoBand=12p11.21;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;1000g2015aug_all=0.151358;avsnp147=rs1046116;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;ExAC_ALL=0.1800;ExAC_AFR=0.1981;ExAC_AMR=0.1187;ExAC_EAS=0.0297;ExAC_FIN=0.1921;ExAC_NFE=0.2099;ExAC_OTH=0.2070;ExAC_SAS=0.1633;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=1.04;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.112;CADD_phred=3.732;DANN_score=0.241;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.800;hgmdPRO=id:CM150226#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1805;gnomAD_exome_AFR=0.1983;gnomAD_exome_AMR=0.1262;gnomAD_exome_ASJ=0.1695;gnomAD_exome_EAS=0.0296;gnomAD_exome_FIN=0.1937;gnomAD_exome_NFE=0.2200;gnomAD_exome_OTH=0.1918;gnomAD_exome_SAS=0.1638;gnomAD_genome_ALL=0.1976;gnomAD_genome_AFR=0.1977;gnomAD_genome_AMR=0.1599;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.0308;gnomAD_genome_FIN=0.1875;gnomAD_genome_NFE=0.2192;gnomAD_genome_OTH=0.2088;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1169:591:18179:555:15970:-980.037,0,-1192.88 -chr12 33030802 . T C 5676.66 . AB=0.500697;ABP=3.01333;AC=1;AF=0.5;AN=2;AO=359;CIGAR=1X;DP=717;DPB=717;DPRA=0;EPP=9.5973;EPPR=4.47751;GTI=0;LEN=1;MEANALT=3;MQM=33.1838;MQMR=35.3754;NS=1;NUMALT=1;ODDS=1244.45;PAIRED=0.89415;PAIREDR=0.927928;PAO=0;PQA=0;PQR=0;PRO=0;QA=10292;QR=9820;RO=333;RPL=161;RPP=11.2909;RPPR=5.88603;RPR=198;RUN=1;SAF=219;SAP=40.76;SAR=140;SRF=230;SRP=108.187;SRR=103;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A1012G:p.T338A,PKP2:NM_004572:exon3:c.A1012G:p.T338A;cytoBand=12p11.21;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000998403;avsnp147=rs139851304;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0001;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0.0023;ExAC_SAS=0.0010;CLNALLELEID=54170;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.444;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-1.25;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=-1.051;CADD_phred=0.012;DANN_score=0.873;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.823;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-8.09;phyloP7way_vertebrate=-0.417;phyloP20way_mammalian=-0.700;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.742;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:717:333:9820:359:10292:-580.805,0,-559.455 -chr12 33049590 . C T 1738.47 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=134;CIGAR=1X;DP=198;DPB=198;DPRA=0;EPP=4.04742;EPPR=8.84915;GTI=0;LEN=1;MEANALT=2;MQM=24.6567;MQMR=13.4667;NS=1;NUMALT=1;ODDS=55.4282;PAIRED=0.813433;PAIREDR=0.711111;PAO=0;PQA=0;PQR=0;PRO=0;QA=3348;QR=1220;RO=45;RPL=72;RPP=4.6308;RPPR=3.44459;RPR=62;RUN=1;SAF=53;SAP=15.715;SAR=81;SRF=11;SRP=28.5372;SRR=34;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G76A:p.D26N,PKP2:NM_004572:exon1:c.G76A:p.D26N;cytoBand=12p11.21;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00299521;avsnp147=rs143004808;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0032;ExAC_AMR=0.0156;ExAC_EAS=0;ExAC_FIN=0.0065;ExAC_NFE=0.0231;ExAC_OTH=0.0041;ExAC_SAS=0.0047;CLNALLELEID=54251;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.874;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=6.871;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.750;fathmm-MKL_coding_pred=D;MetaSVM_score=0.033;MetaSVM_pred=D;MetaLR_score=0.451;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=4.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.822;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.410;hgmdPRO=id:CM061172#"Arrhythmogenic_right_ventricular_dysplasia";gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0055;gnomAD_exome_ASJ=0.0448;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0097;gnomAD_exome_OTH=0.0103;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:198:45:1220:134:3348:-172.856,-4.845,0 -chr12 111350999 . G A 9068.6 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1252;DPB=1252;DPRA=0;EPP=3.02418;EPPR=82.4458;GTI=0;LEN=1;MEANALT=3;MQM=31.5224;MQMR=31.0519;NS=1;NUMALT=1;ODDS=1631.68;PAIRED=0.9377;PAIREDR=0.926655;PAO=0;PQA=0;PQR=0;PRO=0;QA=17174;QR=15376;RO=559;RPL=350;RPP=22.0055;RPPR=121.975;RPR=276;RUN=1;SAF=358;SAP=31.1076;SAR=268;SRF=291;SRP=5.06524;SRR=268;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.14996;avsnp147=rs2233260;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;ExAC_ALL=0.2047;ExAC_AFR=0.1612;ExAC_AMR=0.3360;ExAC_EAS=0.0029;ExAC_FIN=0.2741;ExAC_NFE=0.2259;ExAC_OTH=0.2190;ExAC_SAS=0.1245;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2106;gnomAD_exome_AFR=0.1584;gnomAD_exome_AMR=0.3238;gnomAD_exome_ASJ=0.1132;gnomAD_exome_EAS=0.0030;gnomAD_exome_FIN=0.2667;gnomAD_exome_NFE=0.2342;gnomAD_exome_OTH=0.2286;gnomAD_exome_SAS=0.1245;gnomAD_genome_ALL=0.2083;gnomAD_genome_AFR=0.1610;gnomAD_genome_AMR=0.3014;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.0037;gnomAD_genome_FIN=0.2712;gnomAD_genome_NFE=0.2366;gnomAD_genome_OTH=0.2485;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1252:559:15376:626:17174:-920.524,0,-737.801 -chr12 111351029 . TCCCCCA TCCCCA 60.7602 . AB=0.590909;ABP=6.16881;AC=1;AF=0.5;AN=2;AO=26;CIGAR=1M1D5M;DP=44;DPB=96.7143;DPRA=0;EPP=30.0702;EPPR=23.2217;GTI=0;LEN=1;MEANALT=5;MQM=35.4615;MQMR=30.2308;NS=1;NUMALT=1;ODDS=4.42335;PAIRED=0.769231;PAIREDR=0.615385;PAO=47.5;PQA=1405;PQR=1650;PRO=54.5;QA=705;QR=413;RO=13;RPL=0;RPP=59.4686;RPPR=31.2394;RPR=26;RUN=1;SAF=22;SAP=30.0702;SAR=4;SRF=12;SRP=23.2217;SRR=1;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;1000g2015aug_all=0.252596;avsnp147=rs3833910;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;ExAC_ALL=0.2888;ExAC_AFR=0.2250;ExAC_AMR=0.3635;ExAC_EAS=0.2273;ExAC_FIN=0.3468;ExAC_NFE=0.2953;ExAC_OTH=0.2947;ExAC_SAS=0.2590;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2873;gnomAD_exome_AFR=0.2138;gnomAD_exome_AMR=0.3519;gnomAD_exome_ASJ=0.1434;gnomAD_exome_EAS=0.2073;gnomAD_exome_FIN=0.3335;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.2897;gnomAD_exome_SAS=0.2482;gnomAD_genome_ALL=0.2850;gnomAD_genome_AFR=0.2264;gnomAD_genome_AMR=0.3401;gnomAD_genome_ASJ=0.1767;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.3338;gnomAD_genome_NFE=0.3084;gnomAD_genome_OTH=0.3258;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:44:13:413:26:705:-23.1113,0,-11.4217 -chr14 23855249 . T G 134.144 . AB=0.4;ABP=19.0792;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1X;DP=185;DPB=185;DPRA=0;EPP=163.699;EPPR=176.75;GTI=0;LEN=1;MEANALT=3;MQM=33.5;MQMR=28.3737;NS=1;NUMALT=1;ODDS=30.8877;PAIRED=0.986486;PAIREDR=0.989899;PAO=0;PQA=0;PQR=0;PRO=0;QA=1251;QR=2061;RO=99;RPL=60;RPP=65.1027;RPPR=3.55865;RPR=14;RUN=1;SAF=60;SAP=65.1027;SAR=14;SRF=44;SRP=5.66432;SRR=55;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.A5051C:p.Q1684P;cytoBand=14q11.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.744;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.742;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.48;MutationAssessor_pred=M;FATHMM_score=-1.23;FATHMM_pred=T;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.679;CADD_raw=3.293;CADD_phred=22.8;DANN_score=0.993;fathmm-MKL_coding_score=0.862;fathmm-MKL_coding_pred=D;MetaSVM_score=0.499;MetaSVM_pred=D;MetaLR_score=0.652;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.569;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=7 GT:DP:RO:QR:AO:QA:GL 0/1:185:99:2061:74:1251:-54.9255,0,-89.6402 -chr14 23855569 . A G 1192.92 . AB=0.452381;ABP=10.4553;AC=1;AF=0.5;AN=2;AO=171;CIGAR=1X;DP=378;DPB=378;DPRA=0;EPP=132.549;EPPR=89.0884;GTI=0;LEN=1;MEANALT=3;MQM=28;MQMR=31.9213;NS=1;NUMALT=1;ODDS=274.681;PAIRED=0.888889;PAIREDR=0.926966;PAO=0;PQA=0;PQR=0;PRO=0;QA=4297;QR=4157;RO=178;RPL=158;RPP=270;RPPR=215.571;RPR=13;RUN=1;SAF=145;SAP=182.836;SAR=26;SRF=142;SRP=140.081;SRR=36;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;cytoBand=14q11.2;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;1000g2015aug_all=0.492812;avsnp147=rs178640;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;ExAC_ALL=0.4649;ExAC_AFR=0.7073;ExAC_AMR=0.2632;ExAC_EAS=0.2608;ExAC_FIN=0.4705;ExAC_NFE=0.4821;ExAC_OTH=0.4426;ExAC_SAS=0.4899;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4527;gnomAD_exome_AFR=0.7131;gnomAD_exome_AMR=0.2738;gnomAD_exome_ASJ=0.5493;gnomAD_exome_EAS=0.2596;gnomAD_exome_FIN=0.4703;gnomAD_exome_NFE=0.4772;gnomAD_exome_OTH=0.4670;gnomAD_exome_SAS=0.4917;gnomAD_genome_ALL=0.5120;gnomAD_genome_AFR=0.6970;gnomAD_genome_AMR=0.3501;gnomAD_genome_ASJ=0.5497;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.4728;gnomAD_genome_NFE=0.4524;gnomAD_genome_OTH=0.4693;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:378:178:4157:171:4297:-190.991,0,-203.522 -chr14 23855844 . T G 50.174 . AB=0.528926;ABP=3.88966;AC=1;AF=0.5;AN=2;AO=64;CIGAR=1X;DP=121;DPB=121;DPRA=0;EPP=4.23175;EPPR=3.99733;GTI=0;LEN=1;MEANALT=2;MQM=19.3594;MQMR=21.1818;NS=1;NUMALT=1;ODDS=10.1275;PAIRED=1;PAIREDR=0.981818;PAO=0;PQA=0;PQR=0;PRO=0;QA=1109;QR=969;RO=55;RPL=29;RPP=4.23175;RPPR=3.99733;RPR=35;RUN=1;SAF=0;SAP=141.985;SAR=64;SRF=0;SRP=122.441;SRR=55;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.0012;esp6500siv2_ea=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;1000g2015aug_all=0.00419329;avsnp147=rs193922653;Kaviar_AF=0.0011772;Kaviar_AC=182;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0139;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=45292;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0136;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0124;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:121:55:969:64:1109:-29.8133,0,-26.373 -chr14 23858275 . G C 1591.48 . AB=0.467153;ABP=6.86189;AC=1;AF=0.5;AN=2;AO=192;CIGAR=1X;DP=411;DPB=411;DPRA=0;EPP=64.9425;EPPR=270.268;GTI=0;LEN=1;MEANALT=3;MQM=24.3594;MQMR=20.2404;NS=1;NUMALT=1;ODDS=235.901;PAIRED=0.9375;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=4631;QR=5029;RO=208;RPL=97;RPP=3.05554;RPPR=69.8248;RPR=95;RUN=1;SAF=104;SAP=5.9056;SAR=88;SRF=84;SRP=19.7139;SRR=124;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0279553;avsnp147=rs200618133;Kaviar_AF=0.011203;Kaviar_AC=1732;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0862;ExAC_AMR=0.0086;ExAC_EAS=0.0004;ExAC_FIN=0.0010;ExAC_NFE=0.0073;ExAC_OTH=0.0079;ExAC_SAS=0.0015;CLNALLELEID=328943;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0818;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0113;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0269;gnomAD_genome_AFR=0.0799;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:411:208:5029:192:4631:-173.021,0,-148.371 -chr14 23861811 . A G 19573.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=900;CIGAR=1X;DP=938;DPB=938;DPRA=0;EPP=4.17807;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=35.57;MQMR=35.3182;NS=1;NUMALT=1;ODDS=1093.5;PAIRED=0.726667;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=25975;QR=560;RO=22;RPL=736;RPP=792.423;RPPR=34.9902;RPR=164;RUN=1;SAF=577;SAP=158.671;SAR=323;SRF=13;SRP=4.58955;SRR=9;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;cytoBand=14q11.2;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;1000g2015aug_all=0.3748;avsnp147=rs365990;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;ExAC_ALL=0.3461;ExAC_AFR=0.6294;ExAC_AMR=0.2201;ExAC_EAS=0.1673;ExAC_FIN=0.2713;ExAC_NFE=0.3635;ExAC_OTH=0.3455;ExAC_SAS=0.3092;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.935;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_pred=N;VEST3_score=0.021;CADD_raw=0.873;CADD_phred=9.908;DANN_score=0.808;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.422;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.080;phastCons7way_vertebrate=0.938;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=9.475;hgmdPRO=id:CM1010480#"Heart_rate_association_with";gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.6296;gnomAD_exome_AMR=0.2336;gnomAD_exome_ASJ=0.4545;gnomAD_exome_EAS=0.1652;gnomAD_exome_FIN=0.2656;gnomAD_exome_NFE=0.3631;gnomAD_exome_OTH=0.3574;gnomAD_exome_SAS=0.3100;gnomAD_genome_ALL=0.4187;gnomAD_genome_AFR=0.6294;gnomAD_genome_AMR=0.2805;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.1629;gnomAD_genome_FIN=0.2772;gnomAD_genome_NFE=0.3678;gnomAD_genome_OTH=0.3505;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:938:22:560:900:25975:-2057.22,-233.455,0 -chr14 23865885 . G A 19337 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=852;CIGAR=1X;DP=900;DPB=900;DPRA=0;EPP=180.643;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=36.1138;MQMR=39.75;NS=1;NUMALT=1;ODDS=1074.22;PAIRED=0.961268;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24646;QR=365;RO=12;RPL=321;RPP=115.407;RPPR=9.52472;RPR=531;RUN=1;SAF=489;SAP=43.4731;SAR=363;SRF=7;SRP=3.73412;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;1000g2015aug_all=0.367812;avsnp147=rs452036;Kaviar_AF=0.339006;Kaviar_AC=52411;Kaviar_AN=154602;ExAC_ALL=0.3384;ExAC_AFR=0.6223;ExAC_AMR=0.2121;ExAC_EAS=0.1637;ExAC_FIN=0.2711;ExAC_NFE=0.3548;ExAC_OTH=0.3422;ExAC_SAS=0.3001;CLNALLELEID=254920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3280;gnomAD_exome_AFR=0.6233;gnomAD_exome_AMR=0.2252;gnomAD_exome_ASJ=0.4472;gnomAD_exome_EAS=0.1612;gnomAD_exome_FIN=0.2644;gnomAD_exome_NFE=0.3529;gnomAD_exome_OTH=0.35;gnomAD_exome_SAS=0.3006;gnomAD_genome_ALL=0.4134;gnomAD_genome_AFR=0.6269;gnomAD_genome_AMR=0.2679;gnomAD_genome_ASJ=0.4967;gnomAD_genome_EAS=0.1559;gnomAD_genome_FIN=0.2732;gnomAD_genome_NFE=0.3604;gnomAD_genome_OTH=0.3449;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:900:12:365:852:24646:-1968.93,-228.063,0 -chr14 23866146 . G C 421.242 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=28;CIGAR=1X;DP=38;DPB=38;DPRA=0;EPP=14.1779;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=26.4286;MQMR=12;NS=1;NUMALT=1;ODDS=22.8986;PAIRED=0.964286;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=818;QR=257;RO=9;RPL=6;RPP=22.8638;RPPR=3.25157;RPR=22;RUN=1;SAF=24;SAP=34.0313;SAR=4;SRF=8;SRP=14.8328;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;1000g2015aug_all=0.0325479;avsnp147=rs148225043;Kaviar_AF=0.0213257;Kaviar_AC=3297;Kaviar_AN=154602;ExAC_ALL=0.0232;ExAC_AFR=0.0040;ExAC_AMR=0.0393;ExAC_EAS=0.0845;ExAC_FIN=0.0057;ExAC_NFE=0.0144;ExAC_OTH=0.0287;ExAC_SAS=0.0340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0361;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0834;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0292;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0777;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0163;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:38:9:257:28:818:-48.0582,-1.92862,0 -chr14 23866189 . G A 1040.41 . AB=0.467662;ABP=4.83607;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=201;DPB=201;DPRA=0;EPP=3.37991;EPPR=37.1798;GTI=0;LEN=1;MEANALT=3;MQM=31.9149;MQMR=27.8391;NS=1;NUMALT=1;ODDS=147.828;PAIRED=0.968085;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=2314;QR=2139;RO=87;RPL=8;RPP=143.555;RPPR=150.995;RPR=86;RUN=1;SAF=49;SAP=3.37991;SAR=45;SRF=28;SRP=26.9963;SRR=59;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;cytoBand=14q11.2;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;1000g2015aug_all=0.0339457;avsnp147=rs76202964;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.0075;ExAC_AMR=0.0399;ExAC_EAS=0.0845;ExAC_FIN=0.0059;ExAC_NFE=0.0146;ExAC_OTH=0.0286;ExAC_SAS=0.0340;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0086;gnomAD_exome_AMR=0.0364;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0837;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0295;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0132;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0771;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0173;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:201:87:2139:94:2314:-126.822,0,-94.1551 -chr14 23872666 . T C 8696.68 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=469;CIGAR=1X;DP=513;DPB=513;DPRA=0;EPP=20.2385;EPPR=26.6552;GTI=0;LEN=1;MEANALT=3;MQM=28.0405;MQMR=16.7778;NS=1;NUMALT=1;ODDS=573.134;PAIRED=0.921109;PAIREDR=0.444444;PAO=0;PQA=0;PQR=0;PRO=0;QA=12924;QR=379;RO=18;RPL=323;RPP=148.064;RPPR=10.7311;RPR=146;RUN=1;SAF=204;SAP=20.2385;SAR=265;SRF=13;SRP=10.7311;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;1000g2015aug_all=0.784944;avsnp147=rs434273;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.7565;ExAC_AFR=0.9514;ExAC_AMR=0.7160;ExAC_EAS=0.6850;ExAC_FIN=0.7585;ExAC_NFE=0.7624;ExAC_OTH=0.7941;ExAC_SAS=0.6732;CLNALLELEID=53711;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7528;gnomAD_exome_AFR=0.9536;gnomAD_exome_AMR=0.7207;gnomAD_exome_ASJ=0.8423;gnomAD_exome_EAS=0.6755;gnomAD_exome_FIN=0.7501;gnomAD_exome_NFE=0.7600;gnomAD_exome_OTH=0.7619;gnomAD_exome_SAS=0.6774;gnomAD_genome_ALL=0.8069;gnomAD_genome_AFR=0.9499;gnomAD_genome_AMR=0.7506;gnomAD_genome_ASJ=0.8477;gnomAD_genome_EAS=0.6476;gnomAD_genome_FIN=0.7566;gnomAD_genome_NFE=0.7593;gnomAD_genome_OTH=0.7351;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:513:18:379:469:12924:-886.05,-126.533,0 -chr14 23874541 . C T 4004.91 . AB=0.462428;ABP=11.4954;AC=1;AF=0.5;AN=2;AO=320;CIGAR=1X;DP=692;DPB=692;DPRA=0;EPP=24.2907;EPPR=14.5147;GTI=0;LEN=1;MEANALT=3;MQM=29.7625;MQMR=31.4556;NS=1;NUMALT=1;ODDS=922.166;PAIRED=0.896875;PAIREDR=0.876791;PAO=0;PQA=0;PQR=0;PRO=0;QA=9012;QR=10550;RO=349;RPL=77;RPP=190.001;RPPR=229.994;RPR=243;RUN=1;SAF=135;SAP=19.9749;SAR=185;SRF=135;SRP=41.8417;SRR=214;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;cytoBand=14q11.2;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;1000g2015aug_all=0.0571086;avsnp147=rs17277970;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0601;ExAC_AMR=0.0399;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0827;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0683;gnomAD_exome_AFR=0.0563;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0762;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0862;gnomAD_genome_OTH=0.0723;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:692:349:10550:320:9012:-431.734,0,-566.668 -chr14 23876267 . C T 8537 . AB=0.435548;ABP=48.0757;AC=1;AF=0.5;AN=2;AO=544;CIGAR=1X;DP=1249;DPB=1249;DPRA=0;EPP=12.2071;EPPR=3.2772;GTI=0;LEN=1;MEANALT=3;MQM=34.5643;MQMR=36.4932;NS=1;NUMALT=1;ODDS=1965.72;PAIRED=0.895221;PAIREDR=0.925645;PAO=0;PQA=0;PQR=0;PRO=0;QA=15705;QR=19640;RO=659;RPL=183;RPP=129.483;RPPR=175.809;RPR=361;RUN=1;SAF=303;SAP=18.3543;SAR=241;SRF=343;SRP=5.41243;SRR=316;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;cytoBand=14q11.2;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;1000g2015aug_all=0.0567093;avsnp147=rs28711516;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;ExAC_ALL=0.0698;ExAC_AFR=0.0601;ExAC_AMR=0.0396;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0825;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.44;MutationAssessor_pred=M;FATHMM_score=-2.18;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=5.156;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.339;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.53;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.971;SiPhy_29way_logOdds=10.491;hgmdPRO=id:CM122341#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0682;gnomAD_exome_AFR=0.0561;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0767;gnomAD_exome_SAS=0.0822;gnomAD_genome_ALL=0.0707;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0860;gnomAD_genome_OTH=0.0704;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1249:659:19640:544:15705:-879.438,0,-1241.07 -chr14 23882144 . T C 18077.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=923;CIGAR=1X;DP=969;DPB=969;DPRA=0;EPP=3.29497;EPPR=3.20771;GTI=0;LEN=1;MEANALT=3;MQM=30.2654;MQMR=36.2727;NS=1;NUMALT=1;ODDS=1188.94;PAIRED=0.8039;PAIREDR=0.727273;PAO=0;PQA=0;PQR=0;PRO=0;QA=25238;QR=325;RO=11;RPL=672;RPP=419.992;RPPR=12.6832;RPR=251;RUN=1;SAF=414;SAP=24.2427;SAR=509;SRF=5;SRP=3.20771;SRR=6;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;1000g2015aug_all=0.384385;avsnp147=rs2284651;Kaviar_AF=0.0711246;Kaviar_AC=10996;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4369;gnomAD_genome_AFR=0.6912;gnomAD_genome_AMR=0.2745;gnomAD_genome_ASJ=0.4733;gnomAD_genome_EAS=0.1384;gnomAD_genome_FIN=0.2822;gnomAD_genome_NFE=0.3720;gnomAD_genome_OTH=0.3391;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:969:11:325:923:25238:-1854.97,-255.371,0 -chr14 23884889 . C T 5975.92 . AB=0.479482;ABP=6.39648;AC=1;AF=0.5;AN=2;AO=444;CIGAR=1X;DP=926;DPB=926;DPRA=0;EPP=134.551;EPPR=139.317;GTI=0;LEN=1;MEANALT=3;MQM=35.2568;MQMR=35.6615;NS=1;NUMALT=1;ODDS=1376.01;PAIRED=0.952703;PAIREDR=0.898901;PAO=0;PQA=0;PQR=0;PRO=0;QA=12416;QR=13619;RO=455;RPL=426;RPP=817.136;RPPR=906.08;RPR=18;RUN=1;SAF=316;SAP=175.867;SAR=128;SRF=310;SRP=132.941;SRR=145;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;cytoBand=14q11.2;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;1000g2015aug_all=0.117612;avsnp147=rs3729830;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;ExAC_ALL=0.1070;ExAC_AFR=0.2320;ExAC_AMR=0.0588;ExAC_EAS=0.0153;ExAC_FIN=0.0745;ExAC_NFE=0.1175;ExAC_OTH=0.1051;ExAC_SAS=0.0809;CLNALLELEID=52226;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1037;gnomAD_exome_AFR=0.2273;gnomAD_exome_AMR=0.0651;gnomAD_exome_ASJ=0.1267;gnomAD_exome_EAS=0.0138;gnomAD_exome_FIN=0.0734;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1057;gnomAD_exome_SAS=0.0812;gnomAD_genome_ALL=0.1409;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.1213;gnomAD_genome_OTH=0.1041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:926:455:13619:444:12416:-737.242,0,-811.371 -chr14 23892888 . A G 7695.99 . AB=0.475691;ABP=8.39448;AC=1;AF=0.5;AN=2;AO=499;CIGAR=1X;DP=1049;DPB=1049;DPRA=0;EPP=75.4261;EPPR=119.249;GTI=0;LEN=1;MEANALT=3;MQM=35.2024;MQMR=35.7025;NS=1;NUMALT=1;ODDS=1772.07;PAIRED=0.945892;PAIREDR=0.919386;PAO=0;PQA=0;PQR=0;PRO=0;QA=13560;QR=15020;RO=521;RPL=191;RPP=62.58;RPPR=8.11597;RPR=308;RUN=1;SAF=252;SAP=3.11909;SAR=247;SRF=236;SRP=13.0174;SRR=285;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;cytoBand=14q11.2;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;1000g2015aug_all=0.376398;avsnp147=rs7157716;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;ExAC_ALL=0.3212;ExAC_AFR=0.7184;ExAC_AMR=0.1874;ExAC_EAS=0.1584;ExAC_FIN=0.2499;ExAC_NFE=0.3270;ExAC_OTH=0.2996;ExAC_SAS=0.2562;CLNALLELEID=52112;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3070;gnomAD_exome_AFR=0.7180;gnomAD_exome_AMR=0.2013;gnomAD_exome_ASJ=0.3954;gnomAD_exome_EAS=0.1554;gnomAD_exome_FIN=0.2467;gnomAD_exome_NFE=0.3225;gnomAD_exome_OTH=0.3241;gnomAD_exome_SAS=0.2587;gnomAD_genome_ALL=0.4165;gnomAD_genome_AFR=0.7157;gnomAD_genome_AMR=0.2428;gnomAD_genome_ASJ=0.44;gnomAD_genome_EAS=0.1389;gnomAD_genome_FIN=0.2602;gnomAD_genome_NFE=0.3257;gnomAD_genome_OTH=0.3098;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1049:521:15020:499:13560:-790.968,0,-890.325 -chr14 23898994 . G A 7711.68 . AB=0.442704;ABP=37.5981;AC=1;AF=0.5;AN=2;AO=537;CIGAR=1X;DP=1213;DPB=1213;DPRA=0;EPP=3.20844;EPPR=3.01374;GTI=0;LEN=1;MEANALT=3;MQM=33.3762;MQMR=33.225;NS=1;NUMALT=1;ODDS=1775.68;PAIRED=0.877095;PAIREDR=0.852615;PAO=0;PQA=0;PQR=0;PRO=0;QA=14733;QR=18747;RO=631;RPL=154;RPP=215.067;RPPR=278.622;RPR=383;RUN=1;SAF=281;SAP=5.53762;SAR=256;SRF=330;SRP=5.90445;SRR=301;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;cytoBand=14q11.2;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;1000g2015aug_all=0.15615;avsnp147=rs2231126;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;ExAC_ALL=0.0961;ExAC_AFR=0.3860;ExAC_AMR=0.0482;ExAC_EAS=0.0149;ExAC_FIN=0.0543;ExAC_NFE=0.0794;ExAC_OTH=0.0837;ExAC_SAS=0.0742;CLNALLELEID=51993;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0884;gnomAD_exome_AFR=0.3897;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0925;gnomAD_exome_EAS=0.0132;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0801;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.0739;gnomAD_genome_ALL=0.1578;gnomAD_genome_AFR=0.3795;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0111;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0785;gnomAD_genome_OTH=0.0862;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1213:631:18747:537:14733:-802.962,0,-1083.34 -chr14 23900794 . G A 1803.35 . AB=0.40113;ABP=33.0674;AC=1;AF=0.5;AN=2;AO=142;CIGAR=1X;DP=354;DPB=354;DPRA=0;EPP=27.4776;EPPR=36.354;GTI=0;LEN=1;MEANALT=3;MQM=37.1901;MQMR=36.9239;NS=1;NUMALT=1;ODDS=415.237;PAIRED=0.901408;PAIREDR=0.878173;PAO=0;PQA=0;PQR=0;PRO=0;QA=4096;QR=6372;RO=197;RPL=0;RPP=311.359;RPPR=430.79;RPR=142;RUN=1;SAF=91;SAP=27.4776;SAR=51;SRF=126;SRP=36.354;SRR=71;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;cytoBand=14q11.2;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;1000g2015aug_all=0.263778;avsnp147=rs2069542;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;ExAC_ALL=0.1836;ExAC_AFR=0.5481;ExAC_AMR=0.1034;ExAC_EAS=0.0711;ExAC_FIN=0.1112;ExAC_NFE=0.1618;ExAC_OTH=0.1707;ExAC_SAS=0.1873;CLNALLELEID=52273;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1739;gnomAD_exome_AFR=0.5518;gnomAD_exome_AMR=0.1135;gnomAD_exome_ASJ=0.2162;gnomAD_exome_EAS=0.0691;gnomAD_exome_FIN=0.1102;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.1892;gnomAD_exome_SAS=0.1896;gnomAD_genome_ALL=0.2555;gnomAD_genome_AFR=0.5406;gnomAD_genome_AMR=0.1435;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.0679;gnomAD_genome_FIN=0.1215;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1575;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:354:197:6372:142:4096:-235.66,0,-412.607 -chr14 23902753 . G A 7112.31 . AB=0.562588;ABP=27.2019;AC=1;AF=0.5;AN=2;AO=400;CIGAR=1X;DP=711;DPB=711;DPRA=0;EPP=7.26639;EPPR=3.61473;GTI=0;LEN=1;MEANALT=3;MQM=36.4075;MQMR=36.8316;NS=1;NUMALT=1;ODDS=1123.84;PAIRED=0.9675;PAIREDR=0.975945;PAO=0;PQA=0;PQR=0;PRO=0;QA=11857;QR=9079;RO=291;RPL=132;RPP=103.419;RPPR=64.804;RPR=268;RUN=1;SAF=306;SAP=246.997;SAR=94;SRF=237;SRP=252.909;SRR=54;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;cytoBand=14q11.2;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;1000g2015aug_all=0.520367;avsnp147=rs2069540;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;ExAC_ALL=0.4888;ExAC_AFR=0.6284;ExAC_AMR=0.4253;ExAC_EAS=0.3692;ExAC_FIN=0.3972;ExAC_NFE=0.4780;ExAC_OTH=0.4415;ExAC_SAS=0.5906;CLNALLELEID=52039;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4809;gnomAD_exome_AFR=0.6281;gnomAD_exome_AMR=0.4302;gnomAD_exome_ASJ=0.4674;gnomAD_exome_EAS=0.3746;gnomAD_exome_FIN=0.4046;gnomAD_exome_NFE=0.4796;gnomAD_exome_OTH=0.4901;gnomAD_exome_SAS=0.5851;gnomAD_genome_ALL=0.5085;gnomAD_genome_AFR=0.6281;gnomAD_genome_AMR=0.4510;gnomAD_genome_ASJ=0.4603;gnomAD_genome_EAS=0.3933;gnomAD_genome_FIN=0.4186;gnomAD_genome_NFE=0.4778;gnomAD_genome_OTH=0.4898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:711:291:9079:400:11857:-758.954,0,-532.516 -chr14 73664853 . G T 17690.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=687;CIGAR=1X;DP=700;DPB=700;DPRA=0;EPP=43.3706;EPPR=4.78696;GTI=0;LEN=1;MEANALT=2;MQM=38.3697;MQMR=41.6364;NS=1;NUMALT=1;ODDS=867.502;PAIRED=0.970888;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=22014;QR=269;RO=11;RPL=445;RPP=133.264;RPPR=3.20771;RPR=242;RUN=1;SAF=227;SAP=174.607;SAR=460;SRF=6;SRP=3.20771;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.2;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;1000g2015aug_all=0.671526;avsnp147=rs165932;Kaviar_AF=0.58791;Kaviar_AC=90892;Kaviar_AN=154602;ExAC_ALL=0.6280;ExAC_AFR=0.7459;ExAC_AMR=0.7133;ExAC_EAS=0.6518;ExAC_FIN=0.5072;ExAC_NFE=0.5730;ExAC_OTH=0.5938;ExAC_SAS=0.7374;CLNALLELEID=255043;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS962745#"Alzheimer_disease_late-onset_protection_association";gnomAD_exome_ALL=0.6082;gnomAD_exome_AFR=0.7457;gnomAD_exome_AMR=0.6913;gnomAD_exome_ASJ=0.5869;gnomAD_exome_EAS=0.6431;gnomAD_exome_FIN=0.4813;gnomAD_exome_NFE=0.5520;gnomAD_exome_OTH=0.5871;gnomAD_exome_SAS=0.7301;gnomAD_genome_ALL=0.5959;gnomAD_genome_AFR=0.7302;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.5867;gnomAD_genome_EAS=0.6176;gnomAD_genome_FIN=0.4774;gnomAD_genome_NFE=0.5399;gnomAD_genome_OTH=0.5663;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:700:11:269:687:22014:-1806.28,-186.193,0 -chr14 90863489 . G A 3907.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=225;CIGAR=1X;DP=271;DPB=271;DPRA=0;EPP=6.49431;EPPR=23.2217;GTI=0;LEN=1;MEANALT=3;MQM=30.0533;MQMR=27.6923;NS=1;NUMALT=1;ODDS=272.644;PAIRED=0.924444;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5689;QR=182;RO=13;RPL=100;RPP=9.04217;RPPR=23.2217;RPR=125;RUN=1;SAF=174;SAP=149.02;SAR=51;SRF=13;SRP=31.2394;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;1000g2015aug_all=0.716054;avsnp147=rs12886342;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7794;gnomAD_genome_AFR=0.5566;gnomAD_genome_AMR=0.8007;gnomAD_genome_ASJ=0.8311;gnomAD_genome_EAS=0.8205;gnomAD_genome_FIN=0.8573;gnomAD_genome_NFE=0.8792;gnomAD_genome_OTH=0.8514;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:271:13:182:225:5689:-401.406,-56.2066,0 -chr14 90866346 . C T 9185.53 . AB=0.523605;ABP=7.521;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=932;DPB=932;DPRA=0;EPP=62.886;EPPR=42.0504;GTI=0;LEN=1;MEANALT=3;MQM=39.3586;MQMR=40.2399;NS=1;NUMALT=1;ODDS=1776.45;PAIRED=0.967213;PAIREDR=0.990499;PAO=0;PQA=0;PQR=0;PRO=0;QA=14173;QR=12376;RO=421;RPL=205;RPP=30.0825;RPPR=88.8428;RPR=283;RUN=1;SAF=207;SAP=27.3771;SAR=281;SRF=195;SRP=7.96703;SRR=226;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;1000g2015aug_all=0.484425;avsnp147=rs2268433;Kaviar_AF=0.117618;Kaviar_AC=18184;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5084;gnomAD_genome_AFR=0.2167;gnomAD_genome_AMR=0.5274;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.7794;gnomAD_genome_FIN=0.5967;gnomAD_genome_NFE=0.6196;gnomAD_genome_OTH=0.5787;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:932:421:12376:488:14173:-938.717,0,-793.504 -chr15 48712876 . T G 4352.27 . AB=0.453686;ABP=12.8661;AC=1;AF=0.5;AN=2;AO=240;CIGAR=1X;DP=529;DPB=529;DPRA=0;EPP=5.32654;EPPR=3.20349;GTI=0;LEN=1;MEANALT=3;MQM=38.8583;MQMR=37.7046;NS=1;NUMALT=1;ODDS=1002.15;PAIRED=0.954167;PAIREDR=0.950178;PAO=0;PQA=0;PQR=0;PRO=0;QA=7059;QR=8094;RO=281;RPL=113;RPP=4.78367;RPPR=3.63624;RPR=127;RUN=1;SAF=107;SAP=9.12661;SAR=133;SRF=136;SRP=3.63624;SRR=145;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;1000g2015aug_all=0.0491214;avsnp147=rs363838;Kaviar_AF=0.0254719;Kaviar_AC=3938;Kaviar_AN=154602;ExAC_ALL=0.0268;ExAC_AFR=0.0404;ExAC_AMR=0.0591;ExAC_EAS=0.0796;ExAC_FIN=0.0129;ExAC_NFE=0.0102;ExAC_OTH=0.0165;ExAC_SAS=0.0414;CLNALLELEID=51603;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0377;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0743;gnomAD_exome_FIN=0.0107;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0252;gnomAD_exome_SAS=0.0396;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0379;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0556;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0082;gnomAD_genome_OTH=0.0184;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:529:281:8094:240:7059:-444.267,0,-511.899 -chr15 48720526 . G C 14419.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=606;CIGAR=1X;DP=618;DPB=618;DPRA=0;EPP=4.44362;EPPR=3.73412;GTI=0;LEN=1;MEANALT=2;MQM=36.6535;MQMR=29.6667;NS=1;NUMALT=1;ODDS=820.495;PAIRED=0.943894;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=17925;QR=82;RO=3;RPL=199;RPP=158.038;RPPR=9.52472;RPR=407;RUN=1;SAF=310;SAP=3.71262;SAR=296;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;1000g2015aug_all=0.65595;avsnp147=rs363832;Kaviar_AF=0.731129;Kaviar_AC=113034;Kaviar_AN=154602;ExAC_ALL=0.7404;ExAC_AFR=0.4737;ExAC_AMR=0.7988;ExAC_EAS=0.6464;ExAC_FIN=0.7537;ExAC_NFE=0.7660;ExAC_OTH=0.7555;ExAC_SAS=0.8065;CLNALLELEID=141015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7472;gnomAD_exome_AFR=0.4624;gnomAD_exome_AMR=0.7906;gnomAD_exome_ASJ=0.8060;gnomAD_exome_EAS=0.6394;gnomAD_exome_FIN=0.7426;gnomAD_exome_NFE=0.7679;gnomAD_exome_OTH=0.7587;gnomAD_exome_SAS=0.8094;gnomAD_genome_ALL=0.6718;gnomAD_genome_AFR=0.4800;gnomAD_genome_AMR=0.7847;gnomAD_genome_ASJ=0.7616;gnomAD_genome_EAS=0.6314;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7594;gnomAD_genome_OTH=0.7219;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:618:3:82:606:17925:-1460.64,-176.828,0 -chr15 48720652 . C T 8000.37 . AB=0.444062;ABP=34.592;AC=1;AF=0.5;AN=2;AO=516;CIGAR=1X;DP=1162;DPB=1162;DPRA=0;EPP=34.1347;EPPR=31.9183;GTI=0;LEN=1;MEANALT=3;MQM=35.9864;MQMR=37.4706;NS=1;NUMALT=1;ODDS=1842.15;PAIRED=0.920543;PAIREDR=0.905882;PAO=0;PQA=0;PQR=0;PRO=0;QA=14040;QR=18003;RO=595;RPL=236;RPP=11.1575;RPPR=16.5902;RPR=280;RUN=1;SAF=285;SAP=15.2816;SAR=231;SRF=340;SRP=29.3782;SRR=255;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0509185;avsnp147=rs363830;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0796;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0166;ExAC_SAS=0.0416;CLNALLELEID=51583;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0739;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0306;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1162:595:18003:516:14040:-814.404,0,-1151.84 -chr15 48722884 . A G 11292.4 . AB=0.490369;ABP=4.01413;AC=1;AF=0.5;AN=2;AO=611;CIGAR=1X;DP=1246;DPB=1246;DPRA=0;EPP=29.9103;EPPR=44.2612;GTI=0;LEN=1;MEANALT=3;MQM=38.1915;MQMR=38.0814;NS=1;NUMALT=1;ODDS=2600.16;PAIRED=0.952537;PAIREDR=0.918567;PAO=0;PQA=0;PQR=0;PRO=0;QA=18200;QR=18878;RO=614;RPL=231;RPP=81.9119;RPPR=107.637;RPR=380;RUN=1;SAF=388;SAP=99.767;SAR=223;SRF=390;SRP=100.465;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0511182;avsnp147=rs363836;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;ExAC_ALL=0.0297;ExAC_AFR=0.0409;ExAC_AMR=0.0597;ExAC_EAS=0.0797;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0165;ExAC_SAS=0.0417;CLNALLELEID=51582;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0309;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0551;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1246:614:18878:611:18200:-1157.79,0,-1189.54 -chr15 48725206 . T A 10818.8 . AB=0.496558;ABP=3.1299;AC=1;AF=0.5;AN=2;AO=577;CIGAR=1X;DP=1162;DPB=1162;DPRA=0;EPP=170.56;EPPR=41.6686;GTI=0;LEN=1;MEANALT=3;MQM=38.7522;MQMR=39.6178;NS=1;NUMALT=1;ODDS=2491.13;PAIRED=0.941075;PAIREDR=0.968586;PAO=0;PQA=0;PQR=0;PRO=0;QA=17227;QR=18034;RO=573;RPL=331;RPP=30.2007;RPPR=35.787;RPR=246;RUN=1;SAF=346;SAP=52.781;SAR=231;SRF=317;SRP=17.1116;SRR=256;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0507188;avsnp147=rs363823;Kaviar_AF=0.0285313;Kaviar_AC=4411;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0798;ExAC_FIN=0.0153;ExAC_NFE=0.0148;ExAC_OTH=0.0166;ExAC_SAS=0.0417;CLNALLELEID=255253;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0307;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0393;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0206;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1162:573:18034:577:17227:-1114.8,0,-1188.57 -chr15 48729648 . T C 28891.3 . 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TAAAAAAAAG TAAAAAAAAAG 4350.57 . 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T C 9816.93 . AB=0.471326;ABP=10.9801;AC=1;AF=0.5;AN=2;AO=526;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=111.353;EPPR=84.901;GTI=0;LEN=1;MEANALT=3;MQM=38.7624;MQMR=39.2129;NS=1;NUMALT=1;ODDS=2260.43;PAIRED=0.979087;PAIREDR=0.947644;PAO=0;PQA=0;PQR=0;PRO=0;QA=16108;QR=18091;RO=573;RPL=395;RPP=290.735;RPPR=285.45;RPR=131;RUN=1;SAF=219;SAP=34.9797;SAR=307;SRF=243;SRP=31.6942;SRR=330;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;1000g2015aug_all=0.0405351;avsnp147=rs55840194;Kaviar_AF=0.0233826;Kaviar_AC=3615;Kaviar_AN=154602;ExAC_ALL=0.0247;ExAC_AFR=0.0136;ExAC_AMR=0.0581;ExAC_EAS=0.0828;ExAC_FIN=0.0129;ExAC_NFE=0.0103;ExAC_OTH=0.0167;ExAC_SAS=0.0417;CLNALLELEID=141011;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0246;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0520;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0765;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0253;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0145;gnomAD_genome_AFR=0.0138;gnomAD_genome_AMR=0.0453;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0576;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0173;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1116:573:18091:526:16108:-1034.38,0,-1191.79 -chr15 48779402 . 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AB=0.488903;ABP=4.64883;AC=1;AF=0.5;AN=2;AO=749;CIGAR=1X;DP=1532;DPB=1532;DPRA=0;EPP=9.41455;EPPR=20.0628;GTI=0;LEN=1;MEANALT=3;MQM=38.7583;MQMR=39.4305;NS=1;NUMALT=1;ODDS=3115.86;PAIRED=0.969292;PAIREDR=0.974834;PAO=0;PQA=0;PQR=0;PRO=0;QA=21993;QR=23277;RO=755;RPL=185;RPP=419.449;RPPR=557.299;RPR=564;RUN=1;SAF=481;SAP=134.542;SAR=268;SRF=520;SRP=236.623;SRR=235;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;1000g2015aug_all=0.196486;avsnp147=rs11853943;Kaviar_AF=0.166641;Kaviar_AC=25763;Kaviar_AN=154602;ExAC_ALL=0.1709;ExAC_AFR=0.1685;ExAC_AMR=0.1947;ExAC_EAS=0.3522;ExAC_FIN=0.2033;ExAC_NFE=0.1481;ExAC_OTH=0.1623;ExAC_SAS=0.1403;CLNALLELEID=141008;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS145757#"Marfan_syndrome_features";gnomAD_exome_ALL=0.1687;gnomAD_exome_AFR=0.1707;gnomAD_exome_AMR=0.1888;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.3444;gnomAD_exome_FIN=0.2082;gnomAD_exome_NFE=0.1466;gnomAD_exome_OTH=0.1586;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1764;gnomAD_genome_AFR=0.1712;gnomAD_genome_AMR=0.1718;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3315;gnomAD_genome_FIN=0.2095;gnomAD_genome_NFE=0.1557;gnomAD_genome_OTH=0.2045;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1532:755:23277:749:21993:-1419.02,0,-1517.31 -chr15 48797307 . A G 8136.2 . AB=0.473739;ABP=8.7127;AC=1;AF=0.5;AN=2;AO=451;CIGAR=1X;DP=952;DPB=952;DPRA=0;EPP=31.5572;EPPR=8.92254;GTI=0;LEN=1;MEANALT=3;MQM=37.7716;MQMR=38.937;NS=1;NUMALT=1;ODDS=1873.43;PAIRED=0.94235;PAIREDR=0.947479;PAO=0;PQA=0;PQR=0;PRO=0;QA=13284;QR=14894;RO=476;RPL=226;RPP=3.01511;RPPR=3.66722;RPR=225;RUN=1;SAF=276;SAP=52.126;SAR=175;SRF=266;SRP=17.3165;SRR=210;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;cytoBand=15q21.1;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;1000g2015aug_all=0.296925;avsnp147=rs25458;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;ExAC_ALL=0.2006;ExAC_AFR=0.4573;ExAC_AMR=0.2071;ExAC_EAS=0.3527;ExAC_FIN=0.2031;ExAC_NFE=0.1511;ExAC_OTH=0.1751;ExAC_SAS=0.1552;CLNALLELEID=51467;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CM070116#"Tall_stature_association_with";gnomAD_exome_ALL=0.1919;gnomAD_exome_AFR=0.4606;gnomAD_exome_AMR=0.2000;gnomAD_exome_ASJ=0.0580;gnomAD_exome_EAS=0.3438;gnomAD_exome_FIN=0.2081;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1712;gnomAD_exome_SAS=0.1508;gnomAD_genome_ALL=0.2590;gnomAD_genome_AFR=0.4571;gnomAD_genome_AMR=0.1787;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.2102;gnomAD_genome_NFE=0.1585;gnomAD_genome_OTH=0.2204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:952:476:14894:451:13284:-829.43,0,-965.25 -chr15 48807637 . C T 35573.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1434;CIGAR=1X;DP=1450;DPB=1450;DPRA=0;EPP=285.611;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.0342;MQMR=23.5;NS=1;NUMALT=1;ODDS=1974.92;PAIRED=0.941423;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=44304;QR=59;RO=2;RPL=399;RPP=615.529;RPPR=3.0103;RPR=1035;RUN=1;SAF=960;SAP=360.676;SAR=474;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;cytoBand=15q21.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs4775765;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1450:2:59:1434:44304:-3689.75,-428.226,0 -chr15 48826427 . GAAAAAAAAAAAAC GAAAAAAAAAAAC 1878.33 . AB=0.305955;ABP=162.286;AC=1;AF=0.5;AN=2;AO=149;CIGAR=1M1D12M;DP=487;DPB=479.857;DPRA=0;EPP=12.1188;EPPR=4.9151;GTI=0;LEN=1;MEANALT=70;MQM=34.4832;MQMR=36.3596;NS=1;NUMALT=1;ODDS=432.501;PAIRED=0.885906;PAIREDR=0.929825;PAO=3;PQA=87.5;PQR=87.5;PRO=3;QA=3300;QR=3563;RO=114;RPL=75;RPP=3.02487;RPPR=4.22937;RPR=74;RUN=1;SAF=106;SAP=60.8531;SAR=43;SRF=91;SRP=91.0883;SRR=23;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;1000g2015aug_all=.;avsnp147=rs373084568;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.1731;ExAC_AFR=0.0815;ExAC_AMR=0.1537;ExAC_EAS=0.1871;ExAC_FIN=0.2479;ExAC_NFE=0.1862;ExAC_OTH=0.1782;ExAC_SAS=0.1470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2451;gnomAD_exome_AFR=0.1177;gnomAD_exome_AMR=0.2227;gnomAD_exome_ASJ=0.1330;gnomAD_exome_EAS=0.2040;gnomAD_exome_FIN=0.3209;gnomAD_exome_NFE=0.2684;gnomAD_exome_OTH=0.2506;gnomAD_exome_SAS=0.2255;gnomAD_genome_ALL=0.1542;gnomAD_genome_AFR=0.0601;gnomAD_genome_AMR=0.1458;gnomAD_genome_ASJ=0.0917;gnomAD_genome_EAS=0.1024;gnomAD_genome_FIN=0.3844;gnomAD_genome_NFE=0.1817;gnomAD_genome_OTH=0.2298;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:487:114:3563:149:3300:-202.546,0,-208.277 -chr15 63351840 . C A 34996.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1562;CIGAR=1X;DP=1626;DPB=1626;DPRA=0;EPP=134.889;EPPR=19.1015;GTI=0;LEN=1;MEANALT=3;MQM=37.7721;MQMR=33.8205;NS=1;NUMALT=1;ODDS=1882.47;PAIRED=0.980154;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=42842;QR=910;RO=39;RPL=917;RPP=105.862;RPPR=3.51141;RPR=645;RUN=1;SAF=528;SAP=358.948;SAR=1034;SRF=18;SRP=3.51141;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;cytoBand=15q22.2;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;1000g2015aug_all=0.705671;avsnp147=rs1071646;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;ExAC_ALL=0.6737;ExAC_AFR=0.6163;ExAC_AMR=0.5628;ExAC_EAS=0.9575;ExAC_FIN=0.6981;ExAC_NFE=0.6546;ExAC_OTH=0.6707;ExAC_SAS=0.7060;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6702;gnomAD_exome_AFR=0.6157;gnomAD_exome_AMR=0.5547;gnomAD_exome_ASJ=0.6603;gnomAD_exome_EAS=0.9583;gnomAD_exome_FIN=0.7008;gnomAD_exome_NFE=0.6527;gnomAD_exome_OTH=0.6742;gnomAD_exome_SAS=0.7053;gnomAD_genome_ALL=0.6615;gnomAD_genome_AFR=0.6124;gnomAD_genome_AMR=0.5610;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.9604;gnomAD_genome_FIN=0.6959;gnomAD_genome_NFE=0.6548;gnomAD_genome_OTH=0.6741;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1626:39:910:1562:42842:-3560.1,-407.648,0 -chr15 63363401 . CG CATTTTGTTTTG,CATTTTG 5537.4 . AB=0.357357,0.33033;ABP=120.713,169.542;AC=1,1;AF=0.5,0.5;AN=2;AO=238,220;CIGAR=1M10I1M,1M5I1M;DP=666;DPB=2590;DPRA=0,0;EPP=9.17801,22.1193;EPPR=12.7819;GTI=0;LEN=10,5;MEANALT=41,41;MQM=28.7227,35.7955;MQMR=38.875;NS=1;NUMALT=2;ODDS=443.432;PAIRED=0.995798,0.995455;PAIREDR=0.875;PAO=3.33333,3.33333;PQA=96,96;PQR=96;PRO=3.33333;QA=4756,4640;QR=177;RO=8;RPL=40,60;RPP=230.778,101.714;RPPR=3.0103;RPR=198,160;RUN=1,1;SAF=104,104;SAP=11.2218,4.43163;SAR=134,116;SRF=3;SRP=4.09604;SRR=5;TYPE=ins,ins;technology.Illumina-Nextseq=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTT,NM_001018020:c.*30_*31insATTTT,NM_001018007:c.*30_*31insATTTT,NM_001018004:c.*30_*31insATTTT,NM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.32528;avsnp147=rs201620283;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;ExAC_ALL=0.3422;ExAC_AFR=0.3762;ExAC_AMR=0.5522;ExAC_EAS=0.5528;ExAC_FIN=0.2168;ExAC_NFE=0.2517;ExAC_OTH=0.2856;ExAC_SAS=0.4817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3138;gnomAD_genome_AFR=0.3671;gnomAD_genome_AMR=0.4652;gnomAD_genome_ASJ=0.2033;gnomAD_genome_EAS=0.5520;gnomAD_genome_FIN=0.2322;gnomAD_genome_NFE=0.2721;gnomAD_genome_OTH=0.2843;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/2:666:8:177:238,220:4756,4640:-600.664,-310.675,-243.25,-288.18,0,-226.174 -chr17 37822311 . A C 24126.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1187;CIGAR=1X;DP=1228;DPB=1228;DPRA=0;EPP=34.4043;EPPR=15.5221;GTI=0;LEN=1;MEANALT=3;MQM=31.4516;MQMR=25.8571;NS=1;NUMALT=1;ODDS=1517.52;PAIRED=0.817186;PAIREDR=0.714286;PAO=0;PQA=0;PQR=0;PRO=0;QA=33035;QR=403;RO=21;RPL=658;RPP=33.453;RPPR=15.5221;RPR=529;RUN=1;SAF=450;SAP=153.694;SAR=737;SRF=13;SRP=5.59539;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;cytoBand=17q12;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;1000g2015aug_all=0.54972;avsnp147=rs1053651;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;ExAC_ALL=0.6706;ExAC_AFR=0.4368;ExAC_AMR=0.6277;ExAC_EAS=0.3983;ExAC_FIN=0.7367;ExAC_NFE=0.7255;ExAC_OTH=0.6914;ExAC_SAS=0.7399;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.4320;gnomAD_exome_AMR=0.6214;gnomAD_exome_ASJ=0.7057;gnomAD_exome_EAS=0.3877;gnomAD_exome_FIN=0.7411;gnomAD_exome_NFE=0.7262;gnomAD_exome_OTH=0.6823;gnomAD_exome_SAS=0.7424;gnomAD_genome_ALL=0.6111;gnomAD_genome_AFR=0.4325;gnomAD_genome_AMR=0.6089;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.3652;gnomAD_genome_FIN=0.7456;gnomAD_genome_NFE=0.7038;gnomAD_genome_OTH=0.7004;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.331439::-0.295326;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.354663;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 1/1:1228:21:403:1187:33035:-2433.94,-333.307,0 -chr17 39912145 . T A 374.459 . AB=0.450704;ABP=4.50892;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1X;DP=71;DPB=71;DPRA=0;EPP=16.3106;EPPR=5.06748;GTI=0;LEN=1;MEANALT=2;MQM=34.1875;MQMR=31.7368;NS=1;NUMALT=1;ODDS=86.2223;PAIRED=1;PAIREDR=0.921053;PAO=0;PQA=0;PQR=0;PRO=0;QA=919;QR=1095;RO=38;RPL=24;RPP=20.3821;RPPR=5.06748;RPR=8;RUN=1;SAF=9;SAP=16.3106;SAR=23;SRF=10;SRP=21.525;SRR=28;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;cytoBand=17q21.2;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;1000g2015aug_all=0.58726;avsnp147=rs1126821;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;ExAC_ALL=0.6592;ExAC_AFR=0.6037;ExAC_AMR=0.4306;ExAC_EAS=0.3439;ExAC_FIN=0.6698;ExAC_NFE=0.7291;ExAC_OTH=0.6558;ExAC_SAS=0.7361;CLNALLELEID=34156;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.242;CADD_phred=11.97;DANN_score=0.691;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.111;hgmdPRO=id:CM150228#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.6478;gnomAD_exome_AFR=0.5978;gnomAD_exome_AMR=0.4460;gnomAD_exome_ASJ=0.6982;gnomAD_exome_EAS=0.3377;gnomAD_exome_FIN=0.6533;gnomAD_exome_NFE=0.7357;gnomAD_exome_OTH=0.6635;gnomAD_exome_SAS=0.7329;gnomAD_genome_ALL=0.6634;gnomAD_genome_AFR=0.6017;gnomAD_genome_AMR=0.4880;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.3202;gnomAD_genome_FIN=0.6645;gnomAD_genome_NFE=0.7421;gnomAD_genome_OTH=0.7119;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:71:38:1095:32:919:-47.5593,0,-59.0862 -chr17 39913645 . T C 24270.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1106;CIGAR=1X;DP=1135;DPB=1135;DPRA=0;EPP=31.2826;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=34.972;MQMR=27.75;NS=1;NUMALT=1;ODDS=1509.55;PAIRED=0.910488;PAIREDR=0.25;PAO=0;PQA=0;PQR=0;PRO=0;QA=32036;QR=91;RO=4;RPL=246;RPP=743.188;RPPR=11.6962;RPR=860;RUN=1;SAF=625;SAP=43.7225;SAR=481;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;1000g2015aug_all=0.717252;avsnp147=rs7216034;Kaviar_AF=0.705741;Kaviar_AC=109109;Kaviar_AN=154602;ExAC_ALL=0.7100;ExAC_AFR=0.8991;ExAC_AMR=0.5018;ExAC_EAS=0.5053;ExAC_FIN=0.7154;ExAC_NFE=0.7393;ExAC_OTH=0.7004;ExAC_SAS=0.7234;CLNALLELEID=256165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6975;gnomAD_exome_AFR=0.8964;gnomAD_exome_AMR=0.5183;gnomAD_exome_ASJ=0.7089;gnomAD_exome_EAS=0.5010;gnomAD_exome_FIN=0.7035;gnomAD_exome_NFE=0.7450;gnomAD_exome_OTH=0.6993;gnomAD_exome_SAS=0.7234;gnomAD_genome_ALL=0.7695;gnomAD_genome_AFR=0.8946;gnomAD_genome_AMR=0.5552;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.4938;gnomAD_genome_FIN=0.7183;gnomAD_genome_NFE=0.7532;gnomAD_genome_OTH=0.7444;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1135:4:91:1106:32036:-2514.7,-327.836,0 -chr17 39915057 . T C 12568 . AB=0.487678;ABP=5.04377;AC=1;AF=0.5;AN=2;AO=752;CIGAR=1X;DP=1542;DPB=1542;DPRA=0;EPP=153.119;EPPR=107.459;GTI=0;LEN=1;MEANALT=3;MQM=33.859;MQMR=34.0495;NS=1;NUMALT=1;ODDS=2605.53;PAIRED=0.859043;PAIREDR=0.828061;PAO=0;PQA=0;PQR=0;PRO=0;QA=22411;QR=21108;RO=727;RPL=458;RPP=80.6751;RPPR=100.864;RPR=294;RUN=1;SAF=456;SAP=76.9328;SAR=296;SRF=434;SRP=62.3928;SRR=293;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon9:c.A1563G:p.A521A,JUP:NM_021991:exon9:c.A1563G:p.A521A;cytoBand=17q21.2;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;1000g2015aug_all=0.00239617;avsnp147=rs149926974;Kaviar_AF=0.0046118;Kaviar_AC=713;Kaviar_AN=154602;ExAC_ALL=0.0063;ExAC_AFR=0.0006;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0542;ExAC_NFE=0.0064;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=55002;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0478;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0483;gnomAD_genome_NFE=0.0116;gnomAD_genome_OTH=0.0286;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1542:727:21108:752:22411:-1295.67,0,-1166.32 -chr17 39923614 . A G 12375.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=697;CIGAR=1X;DP=710;DPB=710;DPRA=0;EPP=400.072;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=29.9512;MQMR=42;NS=1;NUMALT=1;ODDS=939.287;PAIRED=0.822095;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20915;QR=108;RO=3;RPL=102;RPP=760.219;RPPR=9.52472;RPR=595;RUN=1;SAF=627;SAP=969.577;SAR=70;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;1000g2015aug_all=0.744209;avsnp147=rs12942034;Kaviar_AF=0.740928;Kaviar_AC=114549;Kaviar_AN=154602;ExAC_ALL=0.7638;ExAC_AFR=0.8954;ExAC_AMR=0.5086;ExAC_EAS=0.5023;ExAC_FIN=0.7981;ExAC_NFE=0.8096;ExAC_OTH=0.7633;ExAC_SAS=0.7960;CLNALLELEID=256168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7522;gnomAD_exome_AFR=0.8927;gnomAD_exome_AMR=0.5305;gnomAD_exome_ASJ=0.8003;gnomAD_exome_EAS=0.4994;gnomAD_exome_FIN=0.7877;gnomAD_exome_NFE=0.8138;gnomAD_exome_OTH=0.7615;gnomAD_exome_SAS=0.7995;gnomAD_genome_ALL=0.8105;gnomAD_genome_AFR=0.8903;gnomAD_genome_AMR=0.5704;gnomAD_genome_ASJ=0.8033;gnomAD_genome_EAS=0.4975;gnomAD_genome_FIN=0.7995;gnomAD_genome_NFE=0.8146;gnomAD_genome_OTH=0.7980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:710:3:108:697:20915:-1476.5,-201.206,0 -chr17 39925925 . A G 18163.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=881;CIGAR=1X;DP=893;DPB=893;DPRA=0;EPP=30.1845;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=33.0431;MQMR=28.8333;NS=1;NUMALT=1;ODDS=1179.53;PAIRED=0.876277;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=25418;QR=146;RO=6;RPL=666;RPP=504.349;RPPR=8.80089;RPR=215;RUN=1;SAF=209;SAP=531.383;SAR=672;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;cytoBand=17q21.2;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;1000g2015aug_all=0.715655;avsnp147=rs7405731;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;ExAC_ALL=0.7364;ExAC_AFR=0.8888;ExAC_AMR=0.5461;ExAC_EAS=0.5325;ExAC_FIN=0.7068;ExAC_NFE=0.7622;ExAC_OTH=0.7446;ExAC_SAS=0.7603;CLNALLELEID=55010;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7109;gnomAD_exome_AFR=0.8884;gnomAD_exome_AMR=0.5214;gnomAD_exome_ASJ=0.8254;gnomAD_exome_EAS=0.5099;gnomAD_exome_FIN=0.6806;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7264;gnomAD_exome_SAS=0.7585;gnomAD_genome_ALL=0.7654;gnomAD_genome_AFR=0.8828;gnomAD_genome_AMR=0.5632;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.5056;gnomAD_genome_FIN=0.6822;gnomAD_genome_NFE=0.7567;gnomAD_genome_OTH=0.7305;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:893:6:146:881:25418:-1929.64,-255.907,0 -chr17 48252804 . T C 23491.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1074;CIGAR=1X;DP=1095;DPB=1095;DPRA=0;EPP=61.4419;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=34.2244;MQMR=22.25;NS=1;NUMALT=1;ODDS=1467.83;PAIRED=0.91527;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=29855;QR=63;RO=4;RPL=531;RPP=3.30145;RPPR=3.0103;RPR=543;RUN=1;SAF=461;SAP=49.7232;SAR=613;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=SGCA;GeneDetail.refGene=NM_001135697:c.*6T>C,NM_000023:c.*6T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;1000g2015aug_all=0.921925;avsnp147=rs2696288;Kaviar_AF=0.934264;Kaviar_AC=144439;Kaviar_AN=154602;ExAC_ALL=0.9566;ExAC_AFR=0.7952;ExAC_AMR=0.9776;ExAC_EAS=0.9998;ExAC_FIN=0.9661;ExAC_NFE=0.9620;ExAC_OTH=0.9644;ExAC_SAS=0.9894;CLNALLELEID=178065;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9589;gnomAD_exome_AFR=0.7931;gnomAD_exome_AMR=0.9714;gnomAD_exome_ASJ=0.9531;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9673;gnomAD_exome_NFE=0.9611;gnomAD_exome_OTH=0.9561;gnomAD_exome_SAS=0.9902;gnomAD_genome_ALL=0.9157;gnomAD_genome_AFR=0.7957;gnomAD_genome_AMR=0.9582;gnomAD_genome_ASJ=0.9503;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9665;gnomAD_genome_NFE=0.959;gnomAD_genome_OTH=0.9520;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1095:4:63:1074:29855:-2362.98,-320.077,0 -chr17 78078709 . T C 2752.92 . AB=0.502439;ABP=3.03149;AC=1;AF=0.5;AN=2;AO=206;CIGAR=1X;DP=410;DPB=410;DPRA=0;EPP=10.1361;EPPR=23.8137;GTI=0;LEN=1;MEANALT=3;MQM=28.5728;MQMR=27.8549;NS=1;NUMALT=1;ODDS=563.94;PAIRED=0.786408;PAIREDR=0.777202;PAO=0;PQA=0;PQR=0;PRO=0;QA=6165;QR=5822;RO=193;RPL=78;RPP=29.3631;RPPR=18.4131;RPR=128;RUN=1;SAF=152;SAP=104.247;SAR=54;SRF=136;SRP=73.2287;SRR=57;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;cytoBand=17q25.3;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;1000g2015aug_all=0.714457;avsnp147=rs1800300;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;ExAC_ALL=0.7367;ExAC_AFR=0.7094;ExAC_AMR=0.5074;ExAC_EAS=0.6370;ExAC_FIN=0.8006;ExAC_NFE=0.7654;ExAC_OTH=0.7609;ExAC_SAS=0.8214;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7238;gnomAD_exome_AFR=0.6994;gnomAD_exome_AMR=0.5130;gnomAD_exome_ASJ=0.7994;gnomAD_exome_EAS=0.6313;gnomAD_exome_FIN=0.8005;gnomAD_exome_NFE=0.7563;gnomAD_exome_OTH=0.7414;gnomAD_exome_SAS=0.8178;gnomAD_genome_ALL=0.7276;gnomAD_genome_AFR=0.6914;gnomAD_genome_AMR=0.5395;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6167;gnomAD_genome_FIN=0.7908;gnomAD_genome_NFE=0.7533;gnomAD_genome_OTH=0.7571;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:410:193:5822:206:6165:-296.398,0,-262.952 -chr17 78079544 . C G 8469.57 . AB=0.461426;ABP=20.7677;AC=1;AF=0.5;AN=2;AO=634;CIGAR=1X;DP=1374;DPB=1374;DPRA=0;EPP=24.9305;EPPR=49.9387;GTI=0;LEN=1;MEANALT=3;MQM=28.0268;MQMR=36.2379;NS=1;NUMALT=1;ODDS=1950.19;PAIRED=0.880126;PAIREDR=0.876902;PAO=0;PQA=0;PQR=0;PRO=0;QA=18329;QR=22676;RO=723;RPL=270;RPP=33.2739;RPPR=11.4469;RPR=364;RUN=1;SAF=349;SAP=17.0392;SAR=285;SRF=386;SRP=10.2215;SRR=337;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;1000g2015aug_all=0.602835;avsnp147=rs3816256;Kaviar_AF=0.664603;Kaviar_AC=102749;Kaviar_AN=154602;ExAC_ALL=0.6759;ExAC_AFR=0.5416;ExAC_AMR=0.4592;ExAC_EAS=0.5294;ExAC_FIN=0.7639;ExAC_NFE=0.7456;ExAC_OTH=0.7206;ExAC_SAS=0.6700;CLNALLELEID=98394;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6699;gnomAD_exome_AFR=0.5364;gnomAD_exome_AMR=0.4733;gnomAD_exome_ASJ=0.7791;gnomAD_exome_EAS=0.5312;gnomAD_exome_FIN=0.7615;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7065;gnomAD_exome_SAS=0.6696;gnomAD_genome_ALL=0.6678;gnomAD_genome_AFR=0.5358;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5399;gnomAD_genome_FIN=0.7600;gnomAD_genome_NFE=0.7400;gnomAD_genome_OTH=0.7260;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1374:723:22676:634:18329:-863.017,0,-1415.26 -chr17 78079597 . A G 8454.69 . AB=0.484559;ABP=5.82683;AC=1;AF=0.5;AN=2;AO=659;CIGAR=1X;DP=1360;DPB=1360;DPRA=0;EPP=12.2662;EPPR=6.57702;GTI=0;LEN=1;MEANALT=3;MQM=27.1305;MQMR=35.5083;NS=1;NUMALT=1;ODDS=1946.76;PAIRED=0.860395;PAIREDR=0.853695;PAO=0;PQA=0;PQR=0;PRO=0;QA=18876;QR=19991;RO=663;RPL=460;RPP=227.476;RPPR=243.546;RPR=199;RUN=1;SAF=291;SAP=22.547;SAR=368;SRF=299;SRP=16.8481;SRR=364;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;cytoBand=17q25.3;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;1000g2015aug_all=0.600839;avsnp147=rs1042393;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;ExAC_ALL=0.6746;ExAC_AFR=0.5412;ExAC_AMR=0.4591;ExAC_EAS=0.5293;ExAC_FIN=0.7637;ExAC_NFE=0.7455;ExAC_OTH=0.7173;ExAC_SAS=0.6618;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.92;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=-1.974;CADD_phred=0.001;DANN_score=0.420;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.892;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-2.36;phyloP7way_vertebrate=-0.362;phyloP20way_mammalian=-0.388;phastCons7way_vertebrate=0.018;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=12.466;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.5362;gnomAD_exome_AMR=0.4734;gnomAD_exome_ASJ=0.7789;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7610;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6616;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5355;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5391;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7399;gnomAD_genome_OTH=0.7270;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1360:663:19991:659:18876:-879.57,0,-1174.88 -chr17 78079643 . C T 6097.72 . AB=0.472376;ABP=10.2086;AC=1;AF=0.5;AN=2;AO=513;CIGAR=1X;DP=1086;DPB=1086;DPRA=0;EPP=11.5819;EPPR=23.6274;GTI=0;LEN=1;MEANALT=3;MQM=26.5341;MQMR=31.5385;NS=1;NUMALT=1;ODDS=1404.05;PAIRED=0.82846;PAIREDR=0.791209;PAO=0;PQA=0;PQR=0;PRO=0;QA=14227;QR=16916;RO=546;RPL=228;RPP=16.763;RPPR=120.668;RPR=285;RUN=1;SAF=237;SAP=9.44853;SAR=276;SRF=276;SRP=3.15347;SRR=270;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;cytoBand=17q25.3;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;1000g2015aug_all=0.10603;avsnp147=rs1800301;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;ExAC_ALL=0.1802;ExAC_AFR=0.0762;ExAC_AMR=0.0961;ExAC_EAS=0.0009;ExAC_FIN=0.2508;ExAC_NFE=0.2307;ExAC_OTH=0.1939;ExAC_SAS=0.1673;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.0990;gnomAD_exome_ASJ=0.2994;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.2432;gnomAD_exome_NFE=0.2254;gnomAD_exome_OTH=0.2045;gnomAD_exome_SAS=0.1709;gnomAD_genome_ALL=0.1648;gnomAD_genome_AFR=0.0746;gnomAD_genome_AMR=0.1136;gnomAD_genome_ASJ=0.3133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2534;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.1714;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1086:546:16916:513:14227:-620.841,0,-894.445 -chr17 78079669 . G A 4916.67 . AB=0.43251;ABP=44.6316;AC=1;AF=0.5;AN=2;AO=455;CIGAR=1X;DP=1052;DPB=1052;DPRA=0;EPP=55.6267;EPPR=25.588;GTI=0;LEN=1;MEANALT=3;MQM=27.011;MQMR=31.2847;NS=1;NUMALT=1;ODDS=1132.11;PAIRED=0.802198;PAIREDR=0.794824;PAO=0;PQA=0;PQR=0;PRO=0;QA=12164;QR=17267;RO=541;RPL=211;RPP=8.20752;RPPR=7.38134;RPR=244;RUN=1;SAF=187;SAP=34.3225;SAR=268;SRF=272;SRP=3.04642;SRR=269;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;cytoBand=17q25.3;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;1000g2015aug_all=0.602436;avsnp147=rs1042395;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5423;ExAC_AMR=0.4590;ExAC_EAS=0.5291;ExAC_FIN=0.7654;ExAC_NFE=0.7460;ExAC_OTH=0.7170;ExAC_SAS=0.6701;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.27;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.37;CADD_raw=1.133;CADD_phred=11.39;DANN_score=0.799;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.008;phastCons20way_mammalian=0.204;SiPhy_29way_logOdds=10.855;hgmdPRO=.;gnomAD_exome_ALL=0.6675;gnomAD_exome_AFR=0.5363;gnomAD_exome_AMR=0.4730;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5302;gnomAD_exome_FIN=0.7560;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6694;gnomAD_genome_ALL=0.6676;gnomAD_genome_AFR=0.5359;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5360;gnomAD_genome_FIN=0.7597;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7271;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1052:541:17267:455:12164:-510.117,0,-916.086 -chr17 78081707 . G A 4678.22 . AB=0.431929;ABP=44.1024;AC=1;AF=0.5;AN=2;AO=441;CIGAR=1X;DP=1021;DPB=1021;DPRA=0;EPP=3.40914;EPPR=20.6578;GTI=0;LEN=1;MEANALT=3;MQM=28.1179;MQMR=29.0298;NS=1;NUMALT=1;ODDS=1077.2;PAIRED=0.929705;PAIREDR=0.873016;PAO=0;PQA=0;PQR=0;PRO=0;QA=11683;QR=14559;RO=504;RPL=319;RPP=194.105;RPPR=92.3509;RPR=122;RUN=1;SAF=132;SAP=157.273;SAR=309;SRF=160;SRP=148.878;SRR=344;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;1000g2015aug_all=0.604433;avsnp147=rs2252455;Kaviar_AF=0.6232;Kaviar_AC=96348;Kaviar_AN=154602;ExAC_ALL=0.7503;ExAC_AFR=0.6361;ExAC_AMR=0.6277;ExAC_EAS=0.6317;ExAC_FIN=0.8270;ExAC_NFE=0.7978;ExAC_OTH=0.7732;ExAC_SAS=0.7114;CLNALLELEID=98400;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6960;gnomAD_exome_AFR=0.5745;gnomAD_exome_AMR=0.5063;gnomAD_exome_ASJ=0.7851;gnomAD_exome_EAS=0.5622;gnomAD_exome_FIN=0.7793;gnomAD_exome_NFE=0.7644;gnomAD_exome_OTH=0.7204;gnomAD_exome_SAS=0.6897;gnomAD_genome_ALL=0.6664;gnomAD_genome_AFR=0.5312;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5379;gnomAD_genome_FIN=0.7603;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7255;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1021:504:14559:441:11683:-512.207,0,-740.646 -chr17 78082504 . G A 4574.04 . AB=0.470238;ABP=9.47302;AC=1;AF=0.5;AN=2;AO=395;CIGAR=1X;DP=840;DPB=840;DPRA=0;EPP=7.0179;EPPR=85.4506;GTI=0;LEN=1;MEANALT=3;MQM=33.7468;MQMR=33.9276;NS=1;NUMALT=1;ODDS=1053.21;PAIRED=0.865823;PAIREDR=0.812332;PAO=0;PQA=0;PQR=0;PRO=0;QA=9930;QR=10561;RO=373;RPL=10;RPP=776.082;RPPR=720.242;RPR=385;RUN=1;SAF=184;SAP=7.0179;SAR=211;SRF=130;SRP=77.3468;SRR=243;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;cytoBand=17q25.3;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;1000g2015aug_all=0.602835;avsnp147=rs1800304;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;ExAC_ALL=0.6784;ExAC_AFR=0.5436;ExAC_AMR=0.4620;ExAC_EAS=0.5320;ExAC_FIN=0.7669;ExAC_NFE=0.7474;ExAC_OTH=0.7209;ExAC_SAS=0.6766;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6705;gnomAD_exome_AFR=0.5285;gnomAD_exome_AMR=0.4726;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7664;gnomAD_exome_NFE=0.7401;gnomAD_exome_OTH=0.7058;gnomAD_exome_SAS=0.6747;gnomAD_genome_ALL=0.6654;gnomAD_genome_AFR=0.5298;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5362;gnomAD_genome_FIN=0.7605;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7253;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:840:373:10561:395:9930:-564.226,0,-596.236 -chr17 78083726 . A G 7459.23 . AB=0.495085;ABP=3.24511;AC=1;AF=0.5;AN=2;AO=554;CIGAR=1X;DP=1119;DPB=1119;DPRA=0;EPP=31.9998;EPPR=20.5189;GTI=0;LEN=1;MEANALT=3;MQM=29.6859;MQMR=32.8248;NS=1;NUMALT=1;ODDS=1705.33;PAIRED=0.833935;PAIREDR=0.832677;PAO=0;PQA=0;PQR=0;PRO=0;QA=15008;QR=14601;RO=508;RPL=275;RPP=3.07301;RPPR=84.4149;RPR=279;RUN=1;SAF=333;SAP=52.1781;SAR=221;SRF=325;SRP=89.2024;SRR=183;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;1000g2015aug_all=0.711661;avsnp147=rs2278619;Kaviar_AF=0.720638;Kaviar_AC=111412;Kaviar_AN=154602;ExAC_ALL=0.7312;ExAC_AFR=0.7012;ExAC_AMR=0.4984;ExAC_EAS=0.6277;ExAC_FIN=0.7962;ExAC_NFE=0.7619;ExAC_OTH=0.7607;ExAC_SAS=0.8174;CLNALLELEID=98371;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7213;gnomAD_exome_AFR=0.6935;gnomAD_exome_AMR=0.5097;gnomAD_exome_ASJ=0.8022;gnomAD_exome_EAS=0.6247;gnomAD_exome_FIN=0.7988;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7411;gnomAD_exome_SAS=0.8137;gnomAD_genome_ALL=0.7260;gnomAD_genome_AFR=0.6869;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.7914;gnomAD_genome_EAS=0.6153;gnomAD_genome_FIN=0.7912;gnomAD_genome_NFE=0.7528;gnomAD_genome_OTH=0.7571;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.262501;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1119:508:14601:554:15008:-762.23,0,-767.711 -chr17 78084507 . G C 7162.11 . AB=0.484904;ABP=5.17383;AC=1;AF=0.5;AN=2;AO=530;CIGAR=1X;DP=1093;DPB=1093;DPRA=0;EPP=19.7921;EPPR=30.0614;GTI=0;LEN=1;MEANALT=3;MQM=29.8151;MQMR=31.6998;NS=1;NUMALT=1;ODDS=1649.14;PAIRED=0.866038;PAIREDR=0.815552;PAO=0;PQA=0;PQR=0;PRO=0;QA=15203;QR=17184;RO=553;RPL=160;RPP=183.693;RPPR=238.711;RPR=370;RUN=1;SAF=343;SAP=102.718;SAR=187;SRF=346;SRP=78.8783;SRR=207;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;1000g2015aug_all=0.603035;avsnp147=rs2304844;Kaviar_AF=0.661958;Kaviar_AC=102340;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5371;ExAC_AMR=0.4598;ExAC_EAS=0.5284;ExAC_FIN=0.7638;ExAC_NFE=0.7454;ExAC_OTH=0.7221;ExAC_SAS=0.6753;CLNALLELEID=98373;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6707;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.4729;gnomAD_exome_ASJ=0.7790;gnomAD_exome_EAS=0.5309;gnomAD_exome_FIN=0.7662;gnomAD_exome_NFE=0.7399;gnomAD_exome_OTH=0.7066;gnomAD_exome_SAS=0.6748;gnomAD_genome_ALL=0.6658;gnomAD_genome_AFR=0.5306;gnomAD_genome_AMR=0.5060;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5385;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7251;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1093:553:17184:530:15203:-754.629,0,-924.536 -chr17 78086846 . A G 621.273 . AB=0.467742;ABP=4.69144;AC=1;AF=0.5;AN=2;AO=87;CIGAR=1X;DP=186;DPB=186;DPRA=0;EPP=49.1603;EPPR=5.47788;GTI=0;LEN=1;MEANALT=3;MQM=22.1149;MQMR=24.6705;NS=1;NUMALT=1;ODDS=143.053;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2241;QR=2366;RO=88;RPL=56;RPP=18.61;RPPR=3.109;RPR=31;RUN=1;SAF=56;SAP=18.61;SAR=31;SRF=42;SRP=3.40511;SRR=46;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;1000g2015aug_all=0.715056;avsnp147=rs2304836;Kaviar_AF=0.67818;Kaviar_AC=104848;Kaviar_AN=154602;ExAC_ALL=0.7441;ExAC_AFR=0.7104;ExAC_AMR=0.5379;ExAC_EAS=0.6412;ExAC_FIN=0.7884;ExAC_NFE=0.7704;ExAC_OTH=0.7727;ExAC_SAS=0.8230;CLNALLELEID=98379;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS152218#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.7196;gnomAD_exome_AFR=0.6923;gnomAD_exome_AMR=0.5136;gnomAD_exome_ASJ=0.7971;gnomAD_exome_EAS=0.6246;gnomAD_exome_FIN=0.7935;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7412;gnomAD_exome_SAS=0.8145;gnomAD_genome_ALL=0.7271;gnomAD_genome_AFR=0.6921;gnomAD_genome_AMR=0.5394;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6138;gnomAD_genome_FIN=0.7903;gnomAD_genome_NFE=0.7524;gnomAD_genome_OTH=0.7551;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:186:88:2366:87:2241:-76.447,0,-89.2822 -chr17 78087109 . A G 10051.5 . AB=0.563162;ABP=45.5283;AC=1;AF=0.5;AN=2;AO=691;CIGAR=1X;DP=1227;DPB=1227;DPRA=0;EPP=3.03858;EPPR=33.4871;GTI=0;LEN=1;MEANALT=3;MQM=29.1447;MQMR=31.9561;NS=1;NUMALT=1;ODDS=1360.09;PAIRED=0.788712;PAIREDR=0.739035;PAO=0;PQA=0;PQR=0;PRO=0;QA=19325;QR=12975;RO=456;RPL=313;RPP=16.2874;RPPR=62.7448;RPR=378;RUN=1;SAF=337;SAP=3.91848;SAR=354;SRF=246;SRP=9.18185;SRR=210;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;cytoBand=17q25.3;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;1000g2015aug_all=0.241613;avsnp147=rs1800310;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.1521;ExAC_AMR=0.2329;ExAC_EAS=0.4253;ExAC_FIN=0.4765;ExAC_NFE=0.3708;ExAC_OTH=0.3548;ExAC_SAS=0.3212;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2710;gnomAD_exome_AFR=0.1089;gnomAD_exome_AMR=0.1537;gnomAD_exome_ASJ=0.3451;gnomAD_exome_EAS=0.3613;gnomAD_exome_FIN=0.3546;gnomAD_exome_NFE=0.2879;gnomAD_exome_OTH=0.2933;gnomAD_exome_SAS=0.2833;gnomAD_genome_ALL=0.2537;gnomAD_genome_AFR=0.1149;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3680;gnomAD_genome_FIN=0.3702;gnomAD_genome_NFE=0.2959;gnomAD_genome_OTH=0.2825;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1227:456:12975:691:19325:-1025.27,0,-618.805 -chr17 78090928 . G A 4733.42 . AB=0.462772;ABP=13.5194;AC=1;AF=0.5;AN=2;AO=404;CIGAR=1X;DP=873;DPB=873;DPRA=0;EPP=6.10626;EPPR=3.56144;GTI=0;LEN=1;MEANALT=3;MQM=32.3639;MQMR=31.901;NS=1;NUMALT=1;ODDS=1089.91;PAIRED=0.913366;PAIREDR=0.865482;PAO=0;PQA=0;PQR=0;PRO=0;QA=9530;QR=11432;RO=394;RPL=280;RPP=133.815;RPPR=140.596;RPR=124;RUN=1;SAF=168;SAP=27.864;SAR=236;SRF=164;SRP=27.0177;SRR=230;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.8192;esp6500siv2_ea=0.7530;esp6500siv2_all=0.8192;esp6500siv2_ea=0.7530;1000g2015aug_all=0.789337;avsnp147=rs2304832;Kaviar_AF=0.73446;Kaviar_AC=113549;Kaviar_AN=154602;ExAC_ALL=0.7570;ExAC_AFR=0.9552;ExAC_AMR=0.5146;ExAC_EAS=0.6202;ExAC_FIN=0.7973;ExAC_NFE=0.7669;ExAC_OTH=0.7730;ExAC_SAS=0.8170;CLNALLELEID=98383;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7420;gnomAD_exome_AFR=0.9557;gnomAD_exome_AMR=0.5273;gnomAD_exome_ASJ=0.8231;gnomAD_exome_EAS=0.6216;gnomAD_exome_FIN=0.7999;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7599;gnomAD_exome_SAS=0.8134;gnomAD_genome_ALL=0.8011;gnomAD_genome_AFR=0.9463;gnomAD_genome_AMR=0.5562;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.6060;gnomAD_genome_FIN=0.7912;gnomAD_genome_NFE=0.7546;gnomAD_genome_OTH=0.7802;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.253676::-0.296557;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:873:394:11432:404:9530:-497.314,0,-620.954 -chr17 78091405 . G A 5099.03 . AB=0.431705;ABP=43.6448;AC=1;AF=0.5;AN=2;AO=433;CIGAR=1X;DP=1003;DPB=1003;DPRA=0;EPP=4.8207;EPPR=26.1077;GTI=0;LEN=1;MEANALT=3;MQM=28.7298;MQMR=27.7984;NS=1;NUMALT=1;ODDS=1174.09;PAIRED=0.808314;PAIREDR=0.864271;PAO=0;PQA=0;PQR=0;PRO=0;QA=11271;QR=14463;RO=501;RPL=217;RPP=3.01531;RPPR=26.1077;RPR=216;RUN=1;SAF=218;SAP=3.05543;SAR=215;SRF=260;SRP=4.57497;SRR=241;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;cytoBand=17q25.3;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;1000g2015aug_all=0.711861;avsnp147=rs1126690;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;ExAC_ALL=0.7296;ExAC_AFR=0.7010;ExAC_AMR=0.4712;ExAC_EAS=0.6212;ExAC_FIN=0.7962;ExAC_NFE=0.7645;ExAC_OTH=0.7617;ExAC_SAS=0.8168;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-0.394;CADD_phred=0.400;DANN_score=0.651;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.09;phyloP7way_vertebrate=-1.016;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.213;SiPhy_29way_logOdds=5.965;hgmdPRO=.;gnomAD_exome_ALL=0.7182;gnomAD_exome_AFR=0.6946;gnomAD_exome_AMR=0.4860;gnomAD_exome_ASJ=0.7993;gnomAD_exome_EAS=0.6209;gnomAD_exome_FIN=0.7983;gnomAD_exome_NFE=0.7566;gnomAD_exome_OTH=0.7403;gnomAD_exome_SAS=0.8130;gnomAD_genome_ALL=0.7265;gnomAD_genome_AFR=0.6930;gnomAD_genome_AMR=0.5144;gnomAD_genome_ASJ=0.7867;gnomAD_genome_EAS=0.6057;gnomAD_genome_FIN=0.7902;gnomAD_genome_NFE=0.7527;gnomAD_genome_OTH=0.7582;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1003:501:14463:433:11271:-518.996,0,-680.17 -chr17 78092063 . G A 8398.69 . AB=0.447462;ABP=36.5509;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1399;DPB=1399;DPRA=0;EPP=40.5289;EPPR=4.00402;GTI=0;LEN=1;MEANALT=3;MQM=31.3387;MQMR=30.1836;NS=1;NUMALT=1;ODDS=1933.87;PAIRED=0.803514;PAIREDR=0.80226;PAO=0;PQA=0;PQR=0;PRO=0;QA=16992;QR=21920;RO=708;RPL=377;RPP=59.8432;RPPR=17.1923;RPR=249;RUN=1;SAF=264;SAP=36.3247;SAR=362;SRF=337;SRP=6.55581;SRR=371;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;cytoBand=17q25.3;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;1000g2015aug_all=0.509385;avsnp147=rs1042397;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;ExAC_ALL=0.5805;ExAC_AFR=0.5401;ExAC_AMR=0.4184;ExAC_EAS=0.2798;ExAC_FIN=0.6494;ExAC_NFE=0.6465;ExAC_OTH=0.6230;ExAC_SAS=0.5826;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5725;gnomAD_exome_AFR=0.5316;gnomAD_exome_AMR=0.4295;gnomAD_exome_ASJ=0.7024;gnomAD_exome_EAS=0.2786;gnomAD_exome_FIN=0.6486;gnomAD_exome_NFE=0.6386;gnomAD_exome_OTH=0.6106;gnomAD_exome_SAS=0.5727;gnomAD_genome_ALL=0.5779;gnomAD_genome_AFR=0.5344;gnomAD_genome_AMR=0.4642;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.2735;gnomAD_genome_FIN=0.6269;gnomAD_genome_NFE=0.6279;gnomAD_genome_OTH=0.5973;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.294693;Heart_Left_Ventricle=Heart_Left_Ventricle::0.395221::-0.26054;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1399:708:21920:626:16992:-861.931,0,-1118.91 -chr18 3075503 . CG CAAAG 17687.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=852;CIGAR=1M3I1M;DP=981;DPB=2327.5;DPRA=0;EPP=130.893;EPPR=5.18177;GTI=0;LEN=3;MEANALT=24;MQM=39.4484;MQMR=3;NS=1;NUMALT=1;ODDS=1212.36;PAIRED=0.994131;PAIREDR=1;PAO=11;PQA=45.5;PQR=45.5;PRO=11;QA=20540;QR=14;RO=1;RPL=382;RPP=22.7473;RPPR=5.18177;RPR=470;RUN=1;SAF=396;SAP=12.1855;SAR=456;SRF=1;SRP=5.18177;SRR=0;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;1000g2015aug_all=0.992612;avsnp147=rs10667835;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;ExAC_ALL=0.9961;ExAC_AFR=0.9993;ExAC_AMR=0.9976;ExAC_EAS=1;ExAC_FIN=0.9930;ExAC_NFE=0.9942;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9956;gnomAD_exome_AFR=0.9993;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9922;gnomAD_exome_NFE=0.9933;gnomAD_exome_OTH=0.9953;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9949;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9926;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:981:1:14:852:20540:-1788.35,-269.77,0 -chr18 3089522 . G T 16725.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=731;CIGAR=1X;DP=750;DPB=750;DPRA=0;EPP=272.145;EPPR=9.04217;GTI=0;LEN=1;MEANALT=3;MQM=40.7415;MQMR=39.7778;NS=1;NUMALT=1;ODDS=943.835;PAIRED=0.98632;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=19767;QR=228;RO=9;RPL=300;RPP=53.9879;RPPR=9.04217;RPR=431;RUN=1;SAF=327;SAP=20.6227;SAR=404;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;1000g2015aug_all=0.800319;avsnp147=rs948298;Kaviar_AF=0.0032535;Kaviar_AC=503;Kaviar_AN=154602;ExAC_ALL=0.8092;ExAC_AFR=0.8326;ExAC_AMR=0.9135;ExAC_EAS=0.7246;ExAC_FIN=0.8406;ExAC_NFE=0.8049;ExAC_OTH=0.8539;ExAC_SAS=0.7684;CLNALLELEID=230819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8126;gnomAD_exome_AFR=0.8344;gnomAD_exome_AMR=0.9086;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7191;gnomAD_exome_FIN=0.8353;gnomAD_exome_NFE=0.7995;gnomAD_exome_OTH=0.8214;gnomAD_exome_SAS=0.7710;gnomAD_genome_ALL=0.8205;gnomAD_genome_AFR=0.8310;gnomAD_genome_AMR=0.9081;gnomAD_genome_ASJ=0.8576;gnomAD_genome_EAS=0.7138;gnomAD_genome_FIN=0.8342;gnomAD_genome_NFE=0.8176;gnomAD_genome_OTH=0.8126;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:750:9:228:731:19767:-1708.79,-202.467,0 -chr18 3100429 . G A 14186.3 . AB=0.492424;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=715;CIGAR=1X;DP=1452;DPB=1452;DPRA=0;EPP=37.7812;EPPR=28.5015;GTI=0;LEN=1;MEANALT=3;MQM=38.7357;MQMR=39.4855;NS=1;NUMALT=1;ODDS=3031.25;PAIRED=0.962238;PAIREDR=0.968116;PAO=0;PQA=0;PQR=0;PRO=0;QA=22051;QR=20549;RO=690;RPL=403;RPP=28.1599;RPPR=3.62712;RPR=312;RUN=1;SAF=277;SAP=81.733;SAR=438;SRF=258;SRP=98.2907;SRR=432;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;1000g2015aug_all=0.348043;avsnp147=rs7232329;Kaviar_AF=0.407026;Kaviar_AC=62927;Kaviar_AN=154602;ExAC_ALL=0.4422;ExAC_AFR=0.2055;ExAC_AMR=0.6156;ExAC_EAS=0.3853;ExAC_FIN=0.3915;ExAC_NFE=0.4710;ExAC_OTH=0.4844;ExAC_SAS=0.3913;CLNALLELEID=230821;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4264;gnomAD_exome_AFR=0.1867;gnomAD_exome_AMR=0.5790;gnomAD_exome_ASJ=0.4659;gnomAD_exome_EAS=0.3600;gnomAD_exome_FIN=0.3554;gnomAD_exome_NFE=0.4467;gnomAD_exome_OTH=0.4542;gnomAD_exome_SAS=0.3764;gnomAD_genome_ALL=0.3547;gnomAD_genome_AFR=0.1817;gnomAD_genome_AMR=0.5815;gnomAD_genome_ASJ=0.5067;gnomAD_genome_EAS=0.3491;gnomAD_genome_FIN=0.3473;gnomAD_genome_NFE=0.4390;gnomAD_genome_OTH=0.3980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1452:690:20549:715:22051:-1440.91,0,-1337.01 -chr18 3126811 . A G 14853.3 . AB=0.504353;ABP=3.27498;AC=1;AF=0.5;AN=2;AO=811;CIGAR=1X;DP=1608;DPB=1608;DPRA=0;EPP=166.363;EPPR=203.591;GTI=0;LEN=1;MEANALT=3;MQM=38.8064;MQMR=38.9086;NS=1;NUMALT=1;ODDS=3293.66;PAIRED=0.970407;PAIREDR=0.953003;PAO=0;PQA=0;PQR=0;PRO=0;QA=23300;QR=22796;RO=766;RPL=395;RPP=4.19109;RPPR=3.92878;RPR=416;RUN=1;SAF=391;SAP=5.2621;SAR=420;SRF=368;SRP=5.56164;SRR=398;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;cytoBand=18p11.31;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;1000g2015aug_all=0.254393;avsnp147=rs1071600;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;ExAC_ALL=0.1997;ExAC_AFR=0.2747;ExAC_AMR=0.2458;ExAC_EAS=0.3306;ExAC_FIN=0.1835;ExAC_NFE=0.1523;ExAC_OTH=0.1863;ExAC_SAS=0.2538;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.025;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=1.69;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.079;CADD_phred=3.381;DANN_score=0.599;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.595;integrated_confidence_value=0;GERP++_RS=1.43;phyloP7way_vertebrate=-0.056;phyloP20way_mammalian=0.145;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.397;hgmdPRO=.;gnomAD_exome_ALL=0.1929;gnomAD_exome_AFR=0.2687;gnomAD_exome_AMR=0.2312;gnomAD_exome_ASJ=0.1560;gnomAD_exome_EAS=0.3210;gnomAD_exome_FIN=0.1811;gnomAD_exome_NFE=0.1432;gnomAD_exome_OTH=0.1946;gnomAD_exome_SAS=0.2424;gnomAD_genome_ALL=0.1926;gnomAD_genome_AFR=0.2625;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.3081;gnomAD_genome_FIN=0.1873;gnomAD_genome_NFE=0.1403;gnomAD_genome_OTH=0.1864;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1608:766:22796:811:23300:-1510.88,0,-1459.82 -chr18 3176040 . C G 15291.3 . AB=0.492092;ABP=3.90319;AC=1;AF=0.5;AN=2;AO=809;CIGAR=1X;DP=1644;DPB=1644;DPRA=0;EPP=3.0774;EPPR=13.1626;GTI=0;LEN=1;MEANALT=3;MQM=39.6452;MQMR=40.1325;NS=1;NUMALT=1;ODDS=3314.88;PAIRED=0.966625;PAIREDR=0.953247;PAO=0;PQA=0;PQR=0;PRO=0;QA=23772;QR=22609;RO=770;RPL=372;RPP=14.3508;RPPR=3.41639;RPR=437;RUN=1;SAF=565;SAP=279.587;SAR=244;SRF=524;SRP=220.958;SRR=246;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;cytoBand=18p11.31;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;1000g2015aug_all=0.757188;avsnp147=rs8099021;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;ExAC_ALL=0.7384;ExAC_AFR=0.7990;ExAC_AMR=0.7797;ExAC_EAS=0.7506;ExAC_FIN=0.7606;ExAC_NFE=0.7042;ExAC_OTH=0.7387;ExAC_SAS=0.7961;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.02;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.049;CADD_phred=0.013;DANN_score=0.223;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.601;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=-1.384;phyloP20way_mammalian=-0.313;phastCons7way_vertebrate=0.691;phastCons20way_mammalian=0.306;SiPhy_29way_logOdds=14.746;hgmdPRO=.;gnomAD_exome_ALL=0.7431;gnomAD_exome_AFR=0.8056;gnomAD_exome_AMR=0.7748;gnomAD_exome_ASJ=0.6965;gnomAD_exome_EAS=0.7516;gnomAD_exome_FIN=0.7706;gnomAD_exome_NFE=0.7079;gnomAD_exome_OTH=0.7388;gnomAD_exome_SAS=0.7960;gnomAD_genome_ALL=0.7593;gnomAD_genome_AFR=0.8089;gnomAD_genome_AMR=0.7363;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.7395;gnomAD_genome_FIN=0.7791;gnomAD_genome_NFE=0.7326;gnomAD_genome_OTH=0.7291;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1644:770:22609:809:23772:-1567.23,0,-1471.48 -chr18 3188976 . A G 8196.01 . AB=0.454925;ABP=24.1522;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1198;DPB=1198;DPRA=0;EPP=114.13;EPPR=184.628;GTI=0;LEN=1;MEANALT=3;MQM=34.9156;MQMR=36.9442;NS=1;NUMALT=1;ODDS=1887.2;PAIRED=0.908257;PAIREDR=0.902711;PAO=0;PQA=0;PQR=0;PRO=0;QA=16176;QR=20079;RO=627;RPL=86;RPP=557.349;RPPR=444.401;RPR=459;RUN=1;SAF=378;SAP=180.398;SAR=167;SRF=441;SRP=228.21;SRR=186;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;cytoBand=18p11.31;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;1000g2015aug_all=0.443291;avsnp147=rs1962519;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;ExAC_ALL=0.4374;ExAC_AFR=0.1976;ExAC_AMR=0.4007;ExAC_EAS=0.8196;ExAC_FIN=0.4921;ExAC_NFE=0.4155;ExAC_OTH=0.4131;ExAC_SAS=0.4736;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.169;CADD_raw=2.095;CADD_phred=16.82;DANN_score=0.988;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=-0.000;phyloP20way_mammalian=1.171;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=7.638;hgmdPRO=.;gnomAD_exome_ALL=0.4438;gnomAD_exome_AFR=0.1960;gnomAD_exome_AMR=0.3987;gnomAD_exome_ASJ=0.3927;gnomAD_exome_EAS=0.8208;gnomAD_exome_FIN=0.5039;gnomAD_exome_NFE=0.4177;gnomAD_exome_OTH=0.4294;gnomAD_exome_SAS=0.4746;gnomAD_genome_ALL=0.4044;gnomAD_genome_AFR=0.2102;gnomAD_genome_AMR=0.3940;gnomAD_genome_ASJ=0.4262;gnomAD_genome_EAS=0.8229;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.4448;gnomAD_genome_OTH=0.4371;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1198:627:20079:545:16176:-919.053,0,-1277.75 -chr18 9117867 . T C 14656.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=595;CIGAR=1X;DP=613;DPB=613;DPRA=0;EPP=19.3931;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=40.1513;MQMR=32.5;NS=1;NUMALT=1;ODDS=817.21;PAIRED=0.986555;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17125;QR=28;RO=2;RPL=238;RPP=54.6913;RPPR=3.0103;RPR=357;RUN=1;SAF=220;SAP=90.6903;SAR=375;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;cytoBand=18p11.22;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;1000g2015aug_all=0.778954;avsnp147=rs906807;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;ExAC_ALL=0.8001;ExAC_AFR=0.7593;ExAC_AMR=0.7611;ExAC_EAS=0.7098;ExAC_FIN=0.7420;ExAC_NFE=0.8157;ExAC_OTH=0.7963;ExAC_SAS=0.8606;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=1.38;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.840;CADD_phred=9.708;DANN_score=0.821;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.966;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=4.67;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.747;SiPhy_29way_logOdds=11.855;hgmdPRO=id:CM983407#"Parkinson_disease_susceptibility_to_association";gnomAD_exome_ALL=0.7980;gnomAD_exome_AFR=0.7551;gnomAD_exome_AMR=0.7493;gnomAD_exome_ASJ=0.8953;gnomAD_exome_EAS=0.7120;gnomAD_exome_FIN=0.7492;gnomAD_exome_NFE=0.8155;gnomAD_exome_OTH=0.8101;gnomAD_exome_SAS=0.8591;gnomAD_genome_ALL=0.7844;gnomAD_genome_AFR=0.7579;gnomAD_genome_AMR=0.7709;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.7494;gnomAD_genome_FIN=0.7349;gnomAD_genome_NFE=0.8134;gnomAD_genome_OTH=0.7888;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:613:2:28:595:17125:-1484.6,-177.241,0 -chr18 28666526 . TT TTAAT 17806.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=983;CIGAR=1M3I1M;DP=1091;DPB=2618;DPRA=0;EPP=37.5263;EPPR=30.8051;GTI=0;LEN=3;MEANALT=14;MQM=38.5259;MQMR=38.25;NS=1;NUMALT=1;ODDS=1236.82;PAIRED=0.966429;PAIREDR=1;PAO=5;PQA=64.5;PQR=64.5;PRO=5;QA=21705;QR=450;RO=20;RPL=298;RPP=333.854;RPPR=6.91895;RPR=685;RUN=1;SAF=607;SAP=120.886;SAR=376;SRF=11;SRP=3.44459;SRR=9;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:1091:20:450:983:21705:-1829.03,-269.101,0 -chr18 29104698 . C T 7713.33 . AB=0.506757;ABP=3.30374;AC=1;AF=0.5;AN=2;AO=375;CIGAR=1X;DP=740;DPB=740;DPRA=0;EPP=24.5571;EPPR=115.199;GTI=0;LEN=1;MEANALT=3;MQM=40.2853;MQMR=40.1508;NS=1;NUMALT=1;ODDS=1704.29;PAIRED=0.978667;PAIREDR=0.986034;PAO=0;PQA=0;PQR=0;PRO=0;QA=11644;QR=11405;RO=358;RPL=148;RPP=39.1494;RPPR=32.7316;RPR=227;RUN=1;SAF=182;SAP=3.71096;SAR=193;SRF=195;SRP=9.22144;SRR=163;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;cytoBand=18q12.1;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;1000g2015aug_all=0.526558;avsnp147=rs2230233;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;ExAC_ALL=0.4116;ExAC_AFR=0.8002;ExAC_AMR=0.4009;ExAC_EAS=0.4927;ExAC_FIN=0.4107;ExAC_NFE=0.3687;ExAC_OTH=0.3789;ExAC_SAS=0.3219;CLNALLELEID=53496;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4077;gnomAD_exome_AFR=0.8037;gnomAD_exome_AMR=0.4123;gnomAD_exome_ASJ=0.3189;gnomAD_exome_EAS=0.4905;gnomAD_exome_FIN=0.4102;gnomAD_exome_NFE=0.3718;gnomAD_exome_OTH=0.3754;gnomAD_exome_SAS=0.3217;gnomAD_genome_ALL=0.5053;gnomAD_genome_AFR=0.7865;gnomAD_genome_AMR=0.4665;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.4920;gnomAD_genome_FIN=0.4029;gnomAD_genome_NFE=0.3792;gnomAD_genome_OTH=0.4020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:740:358:11405:375:11644:-784.965,0,-762.98 -chr18 29125854 . A G 5852.81 . AB=0.421286;ABP=51.5531;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=902;DPB=902;DPRA=0;EPP=176.02;EPPR=218.378;GTI=0;LEN=1;MEANALT=3;MQM=39.5132;MQMR=40.1865;NS=1;NUMALT=1;ODDS=1347.66;PAIRED=0.997368;PAIREDR=0.981557;PAO=0;PQA=0;PQR=0;PRO=0;QA=10296;QR=14955;RO=488;RPL=120;RPP=115.013;RPPR=67.0865;RPR=260;RUN=1;SAF=159;SAP=24.9765;SAR=221;SRF=212;SRP=21.2364;SRR=276;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;cytoBand=18q12.1;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;1000g2015aug_all=0.197484;avsnp147=rs1042769;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;ExAC_ALL=0.1284;ExAC_AFR=0.3545;ExAC_AMR=0.1220;ExAC_EAS=0.1942;ExAC_FIN=0.0714;ExAC_NFE=0.1076;ExAC_OTH=0.0978;ExAC_SAS=0.0735;CLNALLELEID=53469;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1248;gnomAD_exome_AFR=0.3544;gnomAD_exome_AMR=0.1267;gnomAD_exome_ASJ=0.1347;gnomAD_exome_EAS=0.1961;gnomAD_exome_FIN=0.0724;gnomAD_exome_NFE=0.1063;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0727;gnomAD_genome_ALL=0.1768;gnomAD_genome_AFR=0.3479;gnomAD_genome_AMR=0.1199;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2045;gnomAD_genome_FIN=0.0647;gnomAD_genome_NFE=0.1080;gnomAD_genome_OTH=0.1245;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:902:488:14955:380:10296:-627.485,0,-1026.86 -chr18 29126670 . T C 10826.2 . AB=0.450076;ABP=31.6304;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1322;DPB=1322;DPRA=0;EPP=38.7794;EPPR=92.1517;GTI=0;LEN=1;MEANALT=3;MQM=38.5227;MQMR=38.1847;NS=1;NUMALT=1;ODDS=2492.82;PAIRED=0.966387;PAIREDR=0.950284;PAO=0;PQA=0;PQR=0;PRO=0;QA=18277;QR=22781;RO=704;RPL=395;RPP=141.784;RPPR=180.676;RPR=200;RUN=1;SAF=168;SAP=247.825;SAR=427;SRF=201;SRP=284.327;SRR=503;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;cytoBand=18q12.1;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;1000g2015aug_all=0.542931;avsnp147=rs1791235;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;ExAC_ALL=0.4233;ExAC_AFR=0.6952;ExAC_AMR=0.4352;ExAC_EAS=0.7075;ExAC_FIN=0.4153;ExAC_NFE=0.3705;ExAC_OTH=0.3867;ExAC_SAS=0.3241;CLNALLELEID=53482;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4220;gnomAD_exome_AFR=0.6961;gnomAD_exome_AMR=0.4447;gnomAD_exome_ASJ=0.3193;gnomAD_exome_EAS=0.7052;gnomAD_exome_FIN=0.4139;gnomAD_exome_NFE=0.3733;gnomAD_exome_OTH=0.3827;gnomAD_exome_SAS=0.3246;gnomAD_genome_ALL=0.4896;gnomAD_genome_AFR=0.6868;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.6954;gnomAD_genome_FIN=0.4066;gnomAD_genome_NFE=0.3807;gnomAD_genome_OTH=0.4051;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1322:704:22781:595:18277:-1135.69,0,-1489.66 -chr18 32418186 . T A 11026.7 . AB=0.486284;ABP=4.976;AC=1;AF=0.5;AN=2;AO=585;CIGAR=1X;DP=1203;DPB=1203;DPRA=0;EPP=119.301;EPPR=82.171;GTI=0;LEN=1;MEANALT=3;MQM=39.5983;MQMR=40.1527;NS=1;NUMALT=1;ODDS=2539;PAIRED=0.979487;PAIREDR=0.99179;PAO=0;PQA=0;PQR=0;PRO=0;QA=17285;QR=18957;RO=609;RPL=261;RPP=17.7429;RPPR=10.8868;RPR=324;RUN=1;SAF=305;SAP=5.33025;SAR=280;SRF=307;SRP=3.09944;SRR=302;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;1000g2015aug_all=0.204073;avsnp147=rs17557695;Kaviar_AF=0.224053;Kaviar_AC=34639;Kaviar_AN=154602;ExAC_ALL=0.2325;ExAC_AFR=0.2730;ExAC_AMR=0.1081;ExAC_EAS=0.0436;ExAC_FIN=0.2624;ExAC_NFE=0.2563;ExAC_OTH=0.2560;ExAC_SAS=0.2786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2255;gnomAD_exome_AFR=0.2736;gnomAD_exome_AMR=0.1190;gnomAD_exome_ASJ=0.2216;gnomAD_exome_EAS=0.0450;gnomAD_exome_FIN=0.2596;gnomAD_exome_NFE=0.2592;gnomAD_exome_OTH=0.2168;gnomAD_exome_SAS=0.2793;gnomAD_genome_ALL=0.2489;gnomAD_genome_AFR=0.2733;gnomAD_genome_AMR=0.1411;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.0414;gnomAD_genome_FIN=0.2471;gnomAD_genome_NFE=0.2637;gnomAD_genome_OTH=0.2469;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1203:609:18957:585:17285:-1124.36,0,-1271.27 -chr18 32444040 . G A 37942.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1679;CIGAR=1X;DP=1743;DPB=1743;DPRA=0;EPP=524.506;EPPR=12.2676;GTI=0;LEN=1;MEANALT=3;MQM=39.137;MQMR=34.3158;NS=1;NUMALT=1;ODDS=2166.74;PAIRED=0.916021;PAIREDR=0.789474;PAO=0;PQA=0;PQR=0;PRO=0;QA=46146;QR=534;RO=19;RPL=556;RPP=418.796;RPPR=4.03889;RPR=1123;RUN=1;SAF=876;SAP=9.90236;SAR=803;SRF=14;SRP=12.2676;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;1000g2015aug_all=0.29373;avsnp147=rs1617318;Kaviar_AF=0.28933;Kaviar_AC=44731;Kaviar_AN=154602;ExAC_ALL=0.3586;ExAC_AFR=0.5402;ExAC_AMR=0.2023;ExAC_EAS=0.0652;ExAC_FIN=0.4342;ExAC_NFE=0.3944;ExAC_OTH=0.3937;ExAC_SAS=0.3032;CLNALLELEID=55581;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2931;gnomAD_exome_AFR=0.5146;gnomAD_exome_AMR=0.1664;gnomAD_exome_ASJ=0.3214;gnomAD_exome_EAS=0.0471;gnomAD_exome_FIN=0.3654;gnomAD_exome_NFE=0.3339;gnomAD_exome_OTH=0.3063;gnomAD_exome_SAS=0.2752;gnomAD_genome_ALL=0.3756;gnomAD_genome_AFR=0.5089;gnomAD_genome_AMR=0.1933;gnomAD_genome_ASJ=0.3344;gnomAD_genome_EAS=0.0427;gnomAD_genome_FIN=0.3459;gnomAD_genome_NFE=0.3532;gnomAD_genome_OTH=0.3605;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1743:19:534:1679:46146:-3891.74,-467.947,0 -chr18 34232610 . C T 2564.61 . AB=0.427632;ABP=23.7536;AC=1;AF=0.5;AN=2;AO=195;CIGAR=1X;DP=456;DPB=456;DPRA=0;EPP=95.2255;EPPR=71.3675;GTI=0;LEN=1;MEANALT=3;MQM=32.5795;MQMR=33.939;NS=1;NUMALT=1;ODDS=590.524;PAIRED=0.938462;PAIREDR=0.930894;PAO=0;PQA=0;PQR=0;PRO=0;QA=5452;QR=7710;RO=246;RPL=56;RPP=79.7245;RPPR=117.728;RPR=139;RUN=1;SAF=133;SAP=59.1456;SAR=62;SRF=171;SRP=84.3611;SRR=75;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;cytoBand=18q12.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.319489;avsnp147=rs2848901;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;ExAC_ALL=0.3820;ExAC_AFR=0.3155;ExAC_AMR=0.5;ExAC_EAS=0.1888;ExAC_FIN=0.25;ExAC_NFE=0.3083;ExAC_OTH=0.2846;ExAC_SAS=0.4253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.357;CADD_phred=12.57;DANN_score=0.804;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.031;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=15.833;hgmdPRO=.;gnomAD_exome_ALL=0.3350;gnomAD_exome_AFR=0.2950;gnomAD_exome_AMR=0.4875;gnomAD_exome_ASJ=0.2973;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.1841;gnomAD_exome_NFE=0.2812;gnomAD_exome_OTH=0.3288;gnomAD_exome_SAS=0.4271;gnomAD_genome_ALL=0.2691;gnomAD_genome_AFR=0.2800;gnomAD_genome_AMR=0.4761;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.1806;gnomAD_genome_NFE=0.2817;gnomAD_genome_OTH=0.2848;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.32197::-0.216564;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:456:246:7710:195:5452:-288.022,0,-455.282 -chr18 34310668 . C T 10015.1 . AB=0.497721;ABP=3.05979;AC=1;AF=0.5;AN=2;AO=546;CIGAR=1X;DP=1097;DPB=1097;DPRA=0;EPP=52.8985;EPPR=73.5832;GTI=0;LEN=1;MEANALT=3;MQM=39.2601;MQMR=38.9596;NS=1;NUMALT=1;ODDS=2208;PAIRED=0.987179;PAIREDR=0.975;PAO=0;PQA=0;PQR=0;PRO=0;QA=15640;QR=15329;RO=520;RPL=273;RPP=3.0103;RPPR=6.28421;RPR=273;RUN=1;SAF=206;SAP=74.4223;SAR=340;SRF=189;SRP=87.2133;SRR=331;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;cytoBand=18q12.2;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;1000g2015aug_all=0.319489;avsnp147=rs3744903;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;ExAC_ALL=0.3420;ExAC_AFR=0.1838;ExAC_AMR=0.5016;ExAC_EAS=0.3005;ExAC_FIN=0.2770;ExAC_NFE=0.3239;ExAC_OTH=0.3756;ExAC_SAS=0.4489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3510;gnomAD_exome_AFR=0.1815;gnomAD_exome_AMR=0.4927;gnomAD_exome_ASJ=0.3068;gnomAD_exome_EAS=0.2959;gnomAD_exome_FIN=0.2802;gnomAD_exome_NFE=0.3299;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.4522;gnomAD_genome_ALL=0.2858;gnomAD_genome_AFR=0.1773;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.3035;gnomAD_genome_FIN=0.2723;gnomAD_genome_NFE=0.3368;gnomAD_genome_OTH=0.3289;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.21943;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1097:520:15329:546:15640:-1021.87,0,-982.998 -chr18 34324091 . G A 12747.8 . AB=0.503044;ABP=3.11606;AC=1;AF=0.5;AN=2;AO=661;CIGAR=1X;DP=1314;DPB=1314;DPRA=0;EPP=12.2382;EPPR=30.0122;GTI=0;LEN=1;MEANALT=3;MQM=37.7595;MQMR=37.5338;NS=1;NUMALT=1;ODDS=2868.61;PAIRED=0.953101;PAIREDR=0.899529;PAO=0;PQA=0;PQR=0;PRO=0;QA=20166;QR=20186;RO=637;RPL=299;RPP=16.049;RPPR=7.18621;RPR=362;RUN=1;SAF=340;SAP=4.19623;SAR=321;SRF=290;SRP=14.0858;SRR=347;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;cytoBand=18q12.2;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;1000g2015aug_all=0.376198;avsnp147=rs2303510;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;ExAC_ALL=0.3415;ExAC_AFR=0.4148;ExAC_AMR=0.4085;ExAC_EAS=0.3013;ExAC_FIN=0.2648;ExAC_NFE=0.3054;ExAC_OTH=0.3620;ExAC_SAS=0.4450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=3.145;CADD_phred=22.6;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.505;hgmdPRO=id:CM131211#"Cardiomyopathy_hypertrophic_association_with";gnomAD_exome_ALL=0.3421;gnomAD_exome_AFR=0.4189;gnomAD_exome_AMR=0.4014;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.2966;gnomAD_exome_FIN=0.2708;gnomAD_exome_NFE=0.3112;gnomAD_exome_OTH=0.3386;gnomAD_exome_SAS=0.4468;gnomAD_genome_ALL=0.3346;gnomAD_genome_AFR=0.4000;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3079;gnomAD_genome_FIN=0.2638;gnomAD_genome_NFE=0.3166;gnomAD_genome_OTH=0.3112;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.222653;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1314:637:20186:661:20166:-1285.4,0,-1258.3 -chr19 16591464 . G A 24119.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1099;CIGAR=1X;DP=1132;DPB=1132;DPRA=0;EPP=12.4174;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=35.5723;MQMR=20.125;NS=1;NUMALT=1;ODDS=1475.25;PAIRED=0.936306;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=30001;QR=174;RO=8;RPL=600;RPP=23.1661;RPPR=7.35324;RPR=499;RUN=1;SAF=707;SAP=199.065;SAR=392;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;cytoBand=19p13.11;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;1000g2015aug_all=0.650559;avsnp147=rs9305079;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;ExAC_ALL=0.6984;ExAC_AFR=0.5479;ExAC_AMR=0.7731;ExAC_EAS=0.6365;ExAC_FIN=0.6176;ExAC_NFE=0.7109;ExAC_OTH=0.7148;ExAC_SAS=0.7541;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7015;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.7633;gnomAD_exome_ASJ=0.8167;gnomAD_exome_EAS=0.6337;gnomAD_exome_FIN=0.6147;gnomAD_exome_NFE=0.7065;gnomAD_exome_OTH=0.7240;gnomAD_exome_SAS=0.7535;gnomAD_genome_ALL=0.6492;gnomAD_genome_AFR=0.5520;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8344;gnomAD_genome_EAS=0.6286;gnomAD_genome_FIN=0.6125;gnomAD_genome_NFE=0.7044;gnomAD_genome_OTH=0.7070;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.3125::0.259006;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1132:8:174:1099:30001:-2436.73,-322.308,0 -chr19 16593415 . G A 30852.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1409;CIGAR=1X;DP=1453;DPB=1453;DPRA=0;EPP=19.3603;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=34.6352;MQMR=32.25;NS=1;NUMALT=1;ODDS=1924.31;PAIRED=0.924769;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=40093;QR=92;RO=4;RPL=1043;RPP=709.361;RPPR=5.18177;RPR=366;RUN=1;SAF=505;SAP=248.362;SAR=904;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;1000g2015aug_all=0.660144;avsnp147=rs8100755;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;ExAC_ALL=0.7023;ExAC_AFR=0.5908;ExAC_AMR=0.7739;ExAC_EAS=0.6365;ExAC_FIN=0.6175;ExAC_NFE=0.7113;ExAC_OTH=0.7159;ExAC_SAS=0.7535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7045;gnomAD_exome_AFR=0.5861;gnomAD_exome_AMR=0.7645;gnomAD_exome_ASJ=0.8216;gnomAD_exome_EAS=0.6339;gnomAD_exome_FIN=0.6150;gnomAD_exome_NFE=0.7067;gnomAD_exome_OTH=0.7253;gnomAD_exome_SAS=0.7532;gnomAD_genome_ALL=0.6603;gnomAD_genome_AFR=0.5911;gnomAD_genome_AMR=0.7356;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6281;gnomAD_genome_FIN=0.6131;gnomAD_genome_NFE=0.7043;gnomAD_genome_OTH=0.7041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1453:4:92:1409:40093:-3188.75,-417.948,0 -chr19 16601194 . C T 37177.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1439;CIGAR=1X;DP=1466;DPB=1466;DPRA=0;EPP=3.95343;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=38.7915;MQMR=29;NS=1;NUMALT=1;ODDS=1976.9;PAIRED=0.966644;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=44596;QR=64;RO=3;RPL=585;RPP=112.204;RPPR=9.52472;RPR=854;RUN=1;SAF=897;SAP=193.184;SAR=542;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;cytoBand=19p13.11;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;1000g2015aug_all=0.658946;avsnp147=rs3810198;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.5905;ExAC_AMR=0.7727;ExAC_EAS=0.6366;ExAC_FIN=0.6179;ExAC_NFE=0.7102;ExAC_OTH=0.7137;ExAC_SAS=0.7530;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7035;gnomAD_exome_AFR=0.5871;gnomAD_exome_AMR=0.7628;gnomAD_exome_ASJ=0.8214;gnomAD_exome_EAS=0.6336;gnomAD_exome_FIN=0.6149;gnomAD_exome_NFE=0.7052;gnomAD_exome_OTH=0.7236;gnomAD_exome_SAS=0.7527;gnomAD_genome_ALL=0.6600;gnomAD_genome_AFR=0.5927;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6276;gnomAD_genome_FIN=0.6123;gnomAD_genome_NFE=0.7030;gnomAD_genome_OTH=0.7055;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1466:3:64:1439:44596:-3751.26,-429.415,0 -chr19 35524824 . T C 10426.3 . AB=0.483696;ABP=6.40913;AC=1;AF=0.5;AN=2;AO=712;CIGAR=1X;DP=1472;DPB=1472;DPRA=0;EPP=3.0591;EPPR=14.4067;GTI=0;LEN=1;MEANALT=3;MQM=31.8778;MQMR=33.5797;NS=1;NUMALT=1;ODDS=2400.75;PAIRED=0.921348;PAIREDR=0.836389;PAO=0;PQA=0;PQR=0;PRO=0;QA=19373;QR=20821;RO=709;RPL=319;RPP=19.7111;RPPR=3.89543;RPR=393;RUN=1;SAF=367;SAP=4.48641;SAR=345;SRF=350;SRP=3.25838;SRR=359;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;cytoBand=19q13.12;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;1000g2015aug_all=0.377596;avsnp147=rs55742440;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;ExAC_ALL=0.4262;ExAC_AFR=0.5748;ExAC_AMR=0.4259;ExAC_EAS=0.3529;ExAC_FIN=0.5115;ExAC_NFE=0.4522;ExAC_OTH=0.4477;ExAC_SAS=0.3121;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-0.608;CADD_phred=0.120;DANN_score=0.596;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-1.91;phyloP7way_vertebrate=-0.912;phyloP20way_mammalian=-0.503;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.821;hgmdPRO=.;gnomAD_exome_ALL=0.3685;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.3167;gnomAD_exome_ASJ=0.4939;gnomAD_exome_EAS=0.2681;gnomAD_exome_FIN=0.4047;gnomAD_exome_NFE=0.3838;gnomAD_exome_OTH=0.4066;gnomAD_exome_SAS=0.2891;gnomAD_genome_ALL=0.4246;gnomAD_genome_AFR=0.5236;gnomAD_genome_AMR=0.3612;gnomAD_genome_ASJ=0.4801;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.4043;gnomAD_genome_NFE=0.3918;gnomAD_genome_OTH=0.4064;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1472:709:20821:712:19373:-1052.71,0,-1164.57 -chr19 35524964 . G A 13650.2 . AB=0.483632;ABP=6.77785;AC=1;AF=0.5;AN=2;AO=783;CIGAR=1X;DP=1619;DPB=1619;DPRA=0;EPP=24.9774;EPPR=6.35628;GTI=0;LEN=1;MEANALT=3;MQM=35.7765;MQMR=35.2717;NS=1;NUMALT=1;ODDS=2924.54;PAIRED=0.911877;PAIREDR=0.91195;PAO=0;PQA=0;PQR=0;PRO=0;QA=23108;QR=22025;RO=795;RPL=331;RPP=43.6138;RPPR=8.06068;RPR=452;RUN=1;SAF=437;SAP=25.9758;SAR=346;SRF=428;SRP=13.1739;SRR=367;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G769A:p.G257R;cytoBand=19q13.12;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;1000g2015aug_all=0.000199681;avsnp147=rs72558028;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0005;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0312;ExAC_NFE=0.0035;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=188696;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.82;FATHMM_pred=D;PROVEAN_score=0.04;PROVEAN_pred=N;VEST3_score=0.074;CADD_raw=-1.373;CADD_phred=0.004;DANN_score=0.220;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.672;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=-2.01;phyloP7way_vertebrate=-1.403;phyloP20way_mammalian=-1.895;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.291;hgmdPRO=id:CM1111828#"Epilepsy_idiopathic";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0051;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1619:795:22025:783:23108:-1381.94,0,-1280.33 -chr19 46281745 . A G 3587.77 . AB=0.47619;ABP=5.38858;AC=1;AF=0.5;AN=2;AO=230;CIGAR=1X;DP=483;DPB=483;DPRA=0;EPP=24.7628;EPPR=32.4664;GTI=0;LEN=1;MEANALT=3;MQM=32.2043;MQMR=33.3722;NS=1;NUMALT=1;ODDS=678.758;PAIRED=0.952174;PAIREDR=0.901345;PAO=0;PQA=0;PQR=0;PRO=0;QA=6663;QR=5820;RO=223;RPL=99;RPP=12.6781;RPPR=54.9017;RPR=131;RUN=1;SAF=136;SAP=19.6645;SAR=94;SRF=124;SRP=9.09627;SRR=99;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;1000g2015aug_all=.;avsnp147=rs1799894;Kaviar_AF=0.493493;Kaviar_AC=76295;Kaviar_AN=154602;ExAC_ALL=0.5351;ExAC_AFR=0.6564;ExAC_AMR=0.7046;ExAC_EAS=0.6529;ExAC_FIN=0.4714;ExAC_NFE=0.4625;ExAC_OTH=0.4922;ExAC_SAS=0.5975;CLNALLELEID=134349;CLNDN=Steinert_myotonic_dystrophy_syndrome|not_specified;CLNDISDB=MedGen:C0027126,OMIM:160900,Orphanet:ORPHA206647,SNOMED_CT:77956009|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5344;gnomAD_exome_AFR=0.6531;gnomAD_exome_AMR=0.6973;gnomAD_exome_ASJ=0.3818;gnomAD_exome_EAS=0.6434;gnomAD_exome_FIN=0.4653;gnomAD_exome_NFE=0.4623;gnomAD_exome_OTH=0.5168;gnomAD_exome_SAS=0.5973;gnomAD_genome_ALL=0.5327;gnomAD_genome_AFR=0.6450;gnomAD_genome_AMR=0.6384;gnomAD_genome_ASJ=0.37;gnomAD_genome_EAS=0.6446;gnomAD_genome_FIN=0.4615;gnomAD_genome_NFE=0.4705;gnomAD_genome_OTH=0.5102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:483:223:5820:230:6663:-370.879,0,-310.88 -chr19 47104678 . C A 1078.7 . AB=0.460064;ABP=7.34631;AC=1;AF=0.5;AN=2;AO=144;CIGAR=1X;DP=313;DPB=313;DPRA=0;EPP=40.7095;EPPR=68.5576;GTI=0;LEN=1;MEANALT=3;MQM=27.2083;MQMR=30.8204;NS=1;NUMALT=1;ODDS=248.38;PAIRED=0.729167;PAIREDR=0.712575;PAO=0;PQA=0;PQR=0;PRO=0;QA=3197;QR=5177;RO=167;RPL=91;RPP=24.7853;RPPR=29.341;RPR=53;RUN=1;SAF=84;SAP=11.6962;SAR=60;SRF=102;SRP=20.8112;SRR=65;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM3;GeneDetail.refGene=NM_005184:c.-14C>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;1000g2015aug_all=0.00379393;avsnp147=rs201296349;Kaviar_AF=0.0047218;Kaviar_AC=730;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0045;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0292;ExAC_OTH=0.0093;ExAC_SAS=0.0077;CLNALLELEID=379605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0121;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0080;gnomAD_exome_ASJ=0.0341;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0040;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0405;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0058;gnomAD_genome_NFE=0.0171;gnomAD_genome_OTH=0.0123;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:313:167:5177:144:3197:-121.993,0,-269.008 -chr19 49661582 . T C 1327.04 . AB=0.56;ABP=9.26414;AC=1;AF=0.5;AN=2;AO=112;CIGAR=1X;DP=200;DPB=200;DPRA=0;EPP=3.08785;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=27.0357;MQMR=27.9559;NS=1;NUMALT=1;ODDS=74.5168;PAIRED=0.928571;PAIREDR=0.955882;PAO=0;PQA=0;PQR=0;PRO=0;QA=3260;QR=1491;RO=68;RPL=72;RPP=22.8638;RPPR=13.3567;RPR=40;RUN=1;SAF=15;SAP=133.376;SAR=97;SRF=8;SRP=89.3583;SRR=60;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;1000g2015aug_all=0.599441;avsnp147=rs3760664;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7542;gnomAD_genome_AFR=0.6027;gnomAD_genome_AMR=0.7343;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.3371;gnomAD_genome_FIN=0.8593;gnomAD_genome_NFE=0.8580;gnomAD_genome_OTH=0.8207;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:200:68:1491:112:3260:-158.045,0,-51.6117 -chr19 55665410 . C T 4117.09 . AB=0.415172;ABP=48.3237;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=725;DPB=725;DPRA=0;EPP=3.19065;EPPR=6.39476;GTI=0;LEN=1;MEANALT=3;MQM=33.7575;MQMR=34.9102;NS=1;NUMALT=1;ODDS=947.995;PAIRED=0.810631;PAIREDR=0.872818;PAO=0;PQA=0;PQR=0;PRO=0;QA=8228;QR=12195;RO=401;RPL=139;RPP=6.82661;RPPR=25.8893;RPR=162;RUN=1;SAF=165;SAP=9.07744;SAR=136;SRF=222;SRP=13.0229;SRR=179;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;1000g2015aug_all=0.0477236;avsnp147=rs3729841;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0124;ExAC_AMR=0.0333;ExAC_EAS=0.0448;ExAC_FIN=0.0631;ExAC_NFE=0.0718;ExAC_OTH=0.0944;ExAC_SAS=0.1065;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0653;gnomAD_exome_AFR=0.0113;gnomAD_exome_AMR=0.0359;gnomAD_exome_ASJ=0.0966;gnomAD_exome_EAS=0.0454;gnomAD_exome_FIN=0.0583;gnomAD_exome_NFE=0.0710;gnomAD_exome_OTH=0.0845;gnomAD_exome_SAS=0.1061;gnomAD_genome_ALL=0.0484;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0469;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0649;gnomAD_genome_OTH=0.0738;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:725:401:12195:301:8228:-423.347,0,-732.807 -chr19 55665584 . A C 2578.22 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=141;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=31.4858;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=30.4539;MQMR=32;NS=1;NUMALT=1;ODDS=192.052;PAIRED=0.971631;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4078;QR=28;RO=2;RPL=95;RPP=39.9869;RPPR=7.35324;RPR=46;RUN=1;SAF=3;SAP=283.685;SAR=138;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7252610;Kaviar_AF=0.938261;Kaviar_AC=145057;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9998;CLNALLELEID=45542;CLNDN=Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:148:2:28:141:4078:-301.768,-40.5603,0 -chr19 55668397 . C T 5138.94 . AB=0.425358;ABP=50.3386;AC=1;AF=0.5;AN=2;AO=416;CIGAR=1X;DP=978;DPB=978;DPRA=0;EPP=39.8418;EPPR=14.9939;GTI=0;LEN=1;MEANALT=3;MQM=29.0192;MQMR=29.3536;NS=1;NUMALT=1;ODDS=1183.28;PAIRED=0.829327;PAIREDR=0.738703;PAO=0;PQA=0;PQR=0;PRO=0;QA=11732;QR=15910;RO=509;RPL=93;RPP=279.142;RPPR=571.369;RPR=323;RUN=1;SAF=233;SAP=16.06;SAR=183;SRF=271;SRP=7.65614;SRR=238;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;1000g2015aug_all=0.0477236;avsnp147=rs3729837;Kaviar_AF=0.0492814;Kaviar_AC=7619;Kaviar_AN=154602;ExAC_ALL=0.1044;ExAC_AFR=0.0164;ExAC_AMR=0.0977;ExAC_EAS=0.0541;ExAC_FIN=0.1704;ExAC_NFE=0.1201;ExAC_OTH=0.116;ExAC_SAS=0.1216;CLNALLELEID=257236;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0663;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.0975;gnomAD_exome_EAS=0.0439;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0708;gnomAD_exome_OTH=0.0854;gnomAD_exome_SAS=0.1079;gnomAD_genome_ALL=0.0488;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0419;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0476;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0655;gnomAD_genome_OTH=0.0745;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:978:509:15910:416:11732:-557.883,0,-819.438 -chr19 55668509 . A T 4657.06 . AB=0.45269;ABP=23.9676;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=1078;DPB=1078;DPRA=0;EPP=7.01506;EPPR=11.6472;GTI=0;LEN=1;MEANALT=3;MQM=27.918;MQMR=29.2425;NS=1;NUMALT=1;ODDS=1072.33;PAIRED=0.854508;PAIREDR=0.804511;PAO=0;PQA=0;PQR=0;PRO=0;QA=11608;QR=14831;RO=532;RPL=381;RPP=337.079;RPPR=420.978;RPR=107;RUN=1;SAF=194;SAP=47.5077;SAR=294;SRF=201;SRP=71.9913;SRR=331;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;1000g2015aug_all=0.458067;avsnp147=rs3729836;Kaviar_AF=0.283651;Kaviar_AC=43853;Kaviar_AN=154602;ExAC_ALL=0.3537;ExAC_AFR=0.6388;ExAC_AMR=0.5721;ExAC_EAS=0.4650;ExAC_FIN=0.3017;ExAC_NFE=0.2431;ExAC_OTH=0.3745;ExAC_SAS=0.4448;CLNALLELEID=52541;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3166;gnomAD_exome_AFR=0.6256;gnomAD_exome_AMR=0.4886;gnomAD_exome_ASJ=0.2118;gnomAD_exome_EAS=0.4244;gnomAD_exome_FIN=0.2264;gnomAD_exome_NFE=0.2053;gnomAD_exome_OTH=0.3140;gnomAD_exome_SAS=0.4220;gnomAD_genome_ALL=0.3397;gnomAD_genome_AFR=0.6132;gnomAD_genome_AMR=0.4294;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.4355;gnomAD_genome_FIN=0.2298;gnomAD_genome_NFE=0.1976;gnomAD_genome_OTH=0.2867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1078:532:14831:488:11608:-514.268,0,-714.888 -chr20 30414503 . C T 10688.6 . AB=0.454545;ABP=32.0291;AC=1;AF=0.5;AN=2;AO=735;CIGAR=1X;DP=1617;DPB=1617;DPRA=0;EPP=39.4113;EPPR=6.14808;GTI=0;LEN=1;MEANALT=3;MQM=34.4803;MQMR=34.6175;NS=1;NUMALT=1;ODDS=2461.15;PAIRED=0.92381;PAIREDR=0.90625;PAO=0;PQA=0;PQR=0;PRO=0;QA=19370;QR=24760;RO=800;RPL=456;RPP=95.5682;RPPR=31.2503;RPR=279;RUN=1;SAF=297;SAP=61.7464;SAR=438;SRF=336;SRP=47.4821;SRR=464;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;cytoBand=20q11.21;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;1000g2015aug_all=0.00499201;avsnp147=rs17340492;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0035;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0157;ExAC_OTH=0.0110;ExAC_SAS=0.0005;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0163;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1617:800:24760:735:19370:-1096.63,0,-1457.19 -chr20 32000462 . C T 9780.75 . AB=0.441476;ABP=49.7771;AC=1;AF=0.5;AN=2;AO=694;CIGAR=1X;DP=1572;DPB=1572;DPRA=0;EPP=8.52972;EPPR=3.53574;GTI=0;LEN=1;MEANALT=3;MQM=34.2003;MQMR=35.6642;NS=1;NUMALT=1;ODDS=2252.1;PAIRED=0.936599;PAIREDR=0.940741;PAO=0;PQA=0;PQR=0;PRO=0;QA=18602;QR=25243;RO=810;RPL=430;RPP=89.2309;RPPR=89.8692;RPR=264;RUN=1;SAF=326;SAP=8.52972;SAR=368;SRF=385;SRP=7.29963;SRR=425;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.G828A:p.K276K;cytoBand=20q11.21;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;1000g2015aug_all=0.0071885;avsnp147=rs35938843;Kaviar_AF=0.0109184;Kaviar_AC=1688;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0026;ExAC_AMR=0.0031;ExAC_EAS=0.0003;ExAC_FIN=0.0034;ExAC_NFE=0.0139;ExAC_OTH=0.0067;ExAC_SAS=0.0164;CLNALLELEID=222853;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0112;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1572:810:25243:694:18602:-998.058,0,-1549.26 -chr20 42745033 . G A 3844.25 . AB=0.431398;ABP=33.9953;AC=1;AF=0.5;AN=2;AO=327;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=11.145;EPPR=11.2187;GTI=0;LEN=1;MEANALT=3;MQM=30.419;MQMR=31.2251;NS=1;NUMALT=1;ODDS=885.17;PAIRED=0.902141;PAIREDR=0.856021;PAO=0;PQA=0;PQR=0;PRO=0;QA=8026;QR=11091;RO=382;RPL=177;RPP=7.85129;RPPR=16.1073;RPR=150;RUN=1;SAF=161;SAP=3.17631;SAR=166;SRF=215;SRP=16.1073;SRR=167;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00738818;avsnp147=rs116986535;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;ExAC_ALL=0.0125;ExAC_AFR=0.0083;ExAC_AMR=0.0246;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.0269;ExAC_OTH=0.0072;ExAC_SAS=0.0060;CLNALLELEID=141311;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0154;gnomAD_exome_ASJ=0.0165;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0308;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0217;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0286;gnomAD_genome_NFE=0.0320;gnomAD_genome_OTH=0.0265;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:758:382:11091:327:8026:-394.253,0,-597.529 -chr20 42747247 . C T 12800 . AB=0.444387;ABP=54.6968;AC=1;AF=0.5;AN=2;AO=855;CIGAR=1X;DP=1924;DPB=1924;DPRA=0;EPP=3.01284;EPPR=9.13646;GTI=0;LEN=1;MEANALT=3;MQM=35.8292;MQMR=36.645;NS=1;NUMALT=1;ODDS=2947.3;PAIRED=0.928655;PAIREDR=0.895275;PAO=0;PQA=0;PQR=0;PRO=0;QA=22331;QR=22814;RO=783;RPL=569;RPP=206.415;RPPR=71.3687;RPR=286;RUN=1;SAF=407;SAP=7.27959;SAR=448;SRF=360;SRP=14.0174;SRR=423;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;cytoBand=20q13.12;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;1000g2015aug_all=0.270367;avsnp147=rs3810510;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.3438;ExAC_AMR=0.0907;ExAC_EAS=0.3714;ExAC_FIN=0.1023;ExAC_NFE=0.1362;ExAC_OTH=0.1789;ExAC_SAS=0.2811;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_pred=P;MutationAssessor_score=1.53;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_pred=D;VEST3_score=0.102;CADD_raw=5.490;CADD_phred=26.2;DANN_score=0.998;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.956;SiPhy_29way_logOdds=11.654;hgmdPRO=.;gnomAD_exome_ALL=0.1768;gnomAD_exome_AFR=0.3488;gnomAD_exome_AMR=0.0963;gnomAD_exome_ASJ=0.1564;gnomAD_exome_EAS=0.3660;gnomAD_exome_FIN=0.1031;gnomAD_exome_NFE=0.1342;gnomAD_exome_OTH=0.1575;gnomAD_exome_SAS=0.2848;gnomAD_genome_ALL=0.1983;gnomAD_genome_AFR=0.3399;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.3668;gnomAD_genome_FIN=0.1030;gnomAD_genome_NFE=0.1291;gnomAD_genome_OTH=0.1656;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1924:783:22814:855:22331:-1310.21,0,-1361.54 -chr20 42815190 . G A 26772 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1212;CIGAR=1X;DP=1242;DPB=1242;DPRA=0;EPP=18.8413;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=33.5545;MQMR=34.8;NS=1;NUMALT=1;ODDS=1640.82;PAIRED=0.84571;PAIREDR=0.6;PAO=0;PQA=0;PQR=0;PRO=0;QA=35551;QR=141;RO=5;RPL=543;RPP=31.4544;RPPR=13.8677;RPR=669;RUN=1;SAF=464;SAP=147.517;SAR=748;SRF=4;SRP=6.91895;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;cytoBand=20q13.12;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;1000g2015aug_all=0.854233;avsnp147=rs1883790;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;ExAC_ALL=0.8450;ExAC_AFR=0.9394;ExAC_AMR=0.9240;ExAC_EAS=0.7468;ExAC_FIN=0.8417;ExAC_NFE=0.8316;ExAC_OTH=0.8565;ExAC_SAS=0.8359;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8455;gnomAD_exome_AFR=0.9388;gnomAD_exome_AMR=0.9157;gnomAD_exome_ASJ=0.8447;gnomAD_exome_EAS=0.7481;gnomAD_exome_FIN=0.8464;gnomAD_exome_NFE=0.8292;gnomAD_exome_OTH=0.8395;gnomAD_exome_SAS=0.8367;gnomAD_genome_ALL=0.8612;gnomAD_genome_AFR=0.9363;gnomAD_genome_AMR=0.9043;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.7379;gnomAD_genome_FIN=0.8314;gnomAD_genome_NFE=0.8375;gnomAD_genome_OTH=0.8432;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1242:5:141:1212:35551:-2698.01,-354.473,0 -chr20 61039958 . T C 2450.22 . AB=0.425612;ABP=28.5323;AC=1;AF=0.5;AN=2;AO=226;CIGAR=1X;DP=531;DPB=531;DPRA=0;EPP=35.3326;EPPR=42.528;GTI=0;LEN=1;MEANALT=3;MQM=29.7168;MQMR=33.1588;NS=1;NUMALT=1;ODDS=564.184;PAIRED=0.743363;PAIREDR=0.797834;PAO=0;PQA=0;PQR=0;PRO=0;QA=5944;QR=7284;RO=277;RPL=55;RPP=132.299;RPPR=196.24;RPR=171;RUN=1;SAF=119;SAP=4.39389;SAR=107;SRF=147;SRP=5.27584;SRR=130;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;cytoBand=20q13.33;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;1000g2015aug_all=0.629193;avsnp147=rs6061550;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;ExAC_ALL=0.5504;ExAC_AFR=0.7971;ExAC_AMR=0.4291;ExAC_EAS=0.5205;ExAC_FIN=0.5229;ExAC_NFE=0.5152;ExAC_OTH=0.5491;ExAC_SAS=0.6518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5374;gnomAD_exome_AFR=0.8023;gnomAD_exome_AMR=0.4333;gnomAD_exome_ASJ=0.5052;gnomAD_exome_EAS=0.5123;gnomAD_exome_FIN=0.5147;gnomAD_exome_NFE=0.5142;gnomAD_exome_OTH=0.5200;gnomAD_exome_SAS=0.6482;gnomAD_genome_ALL=0.6055;gnomAD_genome_AFR=0.8005;gnomAD_genome_AMR=0.4432;gnomAD_genome_ASJ=0.5265;gnomAD_genome_EAS=0.5012;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.5374;gnomAD_genome_OTH=0.5619;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:531:277:7284:226:5944:-270.313,0,-396.74 -chr20 61040453 . C G 652.72 . AB=0.557895;ABP=5.77607;AC=1;AF=0.5;AN=2;AO=53;CIGAR=1X;DP=95;DPB=95;DPRA=0;EPP=5.01789;EPPR=3.87889;GTI=0;LEN=1;MEANALT=2;MQM=33.3962;MQMR=30.25;NS=1;NUMALT=1;ODDS=107.648;PAIRED=0.792453;PAIREDR=0.725;PAO=0;PQA=0;PQR=0;PRO=0;QA=1353;QR=1235;RO=40;RPL=7;RPP=65.3275;RPPR=51.8684;RPR=46;RUN=1;SAF=28;SAP=3.37904;SAR=25;SRF=23;SRP=4.96463;SRR=17;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;cytoBand=20q13.33;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;1000g2015aug_all=0.534545;avsnp147=rs6061243;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;ExAC_ALL=0.4965;ExAC_AFR=0.6694;ExAC_AMR=0.4595;ExAC_EAS=0.4920;ExAC_FIN=0.4878;ExAC_NFE=0.4912;ExAC_OTH=0.5235;ExAC_SAS=0.4408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.6681;gnomAD_exome_AMR=0.4604;gnomAD_exome_ASJ=0.4207;gnomAD_exome_EAS=0.4802;gnomAD_exome_FIN=0.4670;gnomAD_exome_NFE=0.4921;gnomAD_exome_OTH=0.4783;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.5419;gnomAD_genome_AFR=0.6670;gnomAD_genome_AMR=0.4617;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.4665;gnomAD_genome_FIN=0.4693;gnomAD_genome_NFE=0.5042;gnomAD_genome_OTH=0.4949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:95:40:1235:53:1353:-78.672,0,-58.5286 -chr20 61040951 . C T 6825.48 . AB=0.422874;ABP=71.6756;AC=1;AF=0.5;AN=2;AO=562;CIGAR=1X;DP=1329;DPB=1329;DPRA=0;EPP=15.1273;EPPR=61.2547;GTI=0;LEN=1;MEANALT=3;MQM=32.9377;MQMR=32.9704;NS=1;NUMALT=1;ODDS=1571.62;PAIRED=0.846975;PAIREDR=0.870423;PAO=0;PQA=0;PQR=0;PRO=0;QA=14226;QR=20457;RO=710;RPL=374;RPP=136.683;RPPR=45.5956;RPR=188;RUN=1;SAF=261;SAP=9.19243;SAR=301;SRF=304;SRP=34.83;SRR=406;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon5:c.G852A:p.K284K;cytoBand=20q13.33;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;1000g2015aug_all=0.529553;avsnp147=rs6587239;Kaviar_AF=0.442724;Kaviar_AC=68446;Kaviar_AN=154602;ExAC_ALL=0.5461;ExAC_AFR=0.6845;ExAC_AMR=0.5418;ExAC_EAS=0.5244;ExAC_FIN=0.5655;ExAC_NFE=0.5459;ExAC_OTH=0.5856;ExAC_SAS=0.4710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4727;gnomAD_exome_AFR=0.6652;gnomAD_exome_AMR=0.4560;gnomAD_exome_ASJ=0.4139;gnomAD_exome_EAS=0.4436;gnomAD_exome_FIN=0.4586;gnomAD_exome_NFE=0.4787;gnomAD_exome_OTH=0.4684;gnomAD_exome_SAS=0.4315;gnomAD_genome_ALL=0.5378;gnomAD_genome_AFR=0.6703;gnomAD_genome_AMR=0.4594;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4308;gnomAD_genome_FIN=0.4642;gnomAD_genome_NFE=0.4993;gnomAD_genome_OTH=0.4898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1329:710:20457:562:14226:-709.789,0,-1162.27 -chr20 61048549 . G A 8408.78 . AB=0.436039;ABP=54.6776;AC=1;AF=0.5;AN=2;AO=634;CIGAR=1X;DP=1454;DPB=1454;DPRA=0;EPP=6.51754;EPPR=15.0979;GTI=0;LEN=1;MEANALT=3;MQM=31.6719;MQMR=32.7523;NS=1;NUMALT=1;ODDS=1936.19;PAIRED=0.867508;PAIREDR=0.859025;PAO=0;PQA=0;PQR=0;PRO=0;QA=17370;QR=23434;RO=759;RPL=374;RPP=47.5221;RPPR=88.6361;RPR=260;RUN=1;SAF=241;SAP=82.1423;SAR=393;SRF=319;SRP=44.8977;SRR=440;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;cytoBand=20q13.33;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;1000g2015aug_all=0.388179;avsnp147=rs41305803;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;ExAC_ALL=0.4429;ExAC_AFR=0.4618;ExAC_AMR=0.4787;ExAC_EAS=0.4120;ExAC_FIN=0.4961;ExAC_NFE=0.4679;ExAC_OTH=0.4612;ExAC_SAS=0.3045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4062;gnomAD_exome_AFR=0.4235;gnomAD_exome_AMR=0.4314;gnomAD_exome_ASJ=0.4049;gnomAD_exome_EAS=0.3686;gnomAD_exome_FIN=0.4108;gnomAD_exome_NFE=0.4383;gnomAD_exome_OTH=0.4247;gnomAD_exome_SAS=0.2714;gnomAD_genome_ALL=0.4237;gnomAD_genome_AFR=0.4263;gnomAD_genome_AMR=0.4378;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.3586;gnomAD_genome_FIN=0.4086;gnomAD_genome_NFE=0.4330;gnomAD_genome_OTH=0.4104;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1454:759:23434:634:17370:-864.279,0,-1347.27 -chr20 61050082 . C T 3285.9 . AB=0.438687;ABP=21.916;AC=1;AF=0.5;AN=2;AO=254;CIGAR=1X;DP=579;DPB=579;DPRA=0;EPP=12.8931;EPPR=17.9162;GTI=0;LEN=1;MEANALT=3;MQM=30.9173;MQMR=30.6068;NS=1;NUMALT=1;ODDS=756.607;PAIRED=0.783465;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=6761;QR=9218;RO=295;RPL=179;RPP=95.4774;RPPR=87.2855;RPR=75;RUN=1;SAF=117;SAP=6.42994;SAR=137;SRF=127;SRP=15.384;SRR=168;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.G496A:p.G166S;cytoBand=20q13.33;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00239617;avsnp147=rs141950357;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;ExAC_ALL=0.0145;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0543;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.386;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_pred=B;LRT_score=0.966;LRT_pred=N;MutationTaster_score=0.917;MutationTaster_pred=D;MutationAssessor_score=-0.43;MutationAssessor_pred=N;FATHMM_score=-4.39;FATHMM_pred=D;PROVEAN_score=0.47;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=2.628;CADD_phred=20.4;DANN_score=0.955;fathmm-MKL_coding_score=0.666;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.131;MetaSVM_pred=T;MetaLR_score=0.591;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-1.08;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=-0.464;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.331;SiPhy_29way_logOdds=7.990;hgmdPRO=id:CM124794#"Bicuspid_aortic_valve";gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=8.473e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0101;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:579:295:9218:254:6761:-347.438,0,-488.886 -chr21 35821821 . T C 20921.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=974;CIGAR=1X;DP=1006;DPB=1006;DPRA=0;EPP=43.0421;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=33.2567;MQMR=37.5;NS=1;NUMALT=1;ODDS=1284.18;PAIRED=0.919918;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=27277;QR=222;RO=8;RPL=454;RPP=12.7217;RPPR=3.0103;RPR=520;RUN=1;SAF=428;SAP=34.053;SAR=546;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;cytoBand=21q22.12;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;1000g2015aug_all=0.673922;avsnp147=rs1805127;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;ExAC_ALL=0.6477;ExAC_AFR=0.7107;ExAC_AMR=0.5946;ExAC_EAS=0.7218;ExAC_FIN=0.5624;ExAC_NFE=0.6443;ExAC_OTH=0.6427;ExAC_SAS=0.6549;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=-1.420;CADD_phred=0.003;DANN_score=0.891;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.957;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.18;phyloP7way_vertebrate=-0.203;phyloP20way_mammalian=-0.954;phastCons7way_vertebrate=0.009;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.877;hgmdPRO=id:CM062783#"Noise-induced_hearing_loss_susceptibility_to_association";gnomAD_exome_ALL=0.6418;gnomAD_exome_AFR=0.7117;gnomAD_exome_AMR=0.5917;gnomAD_exome_ASJ=0.6991;gnomAD_exome_EAS=0.7109;gnomAD_exome_FIN=0.5716;gnomAD_exome_NFE=0.6420;gnomAD_exome_OTH=0.6541;gnomAD_exome_SAS=0.6524;gnomAD_genome_ALL=0.6592;gnomAD_genome_AFR=0.7092;gnomAD_genome_AMR=0.5622;gnomAD_genome_ASJ=0.7133;gnomAD_genome_EAS=0.7323;gnomAD_genome_FIN=0.5809;gnomAD_genome_NFE=0.6458;gnomAD_genome_OTH=0.6429;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1006:8:222:974:27277:-2102.27,-276.692,0 -chr22 19882984 . T G 11721.6 . AB=0.495158;ABP=3.32572;AC=1;AF=0.5;AN=2;AO=767;CIGAR=1X;DP=1549;DPB=1549;DPRA=0;EPP=4.03234;EPPR=4.7984;GTI=0;LEN=1;MEANALT=3;MQM=31.9009;MQMR=34.3821;NS=1;NUMALT=1;ODDS=2698.99;PAIRED=0.851369;PAIREDR=0.822134;PAO=0;PQA=0;PQR=0;PRO=0;QA=22027;QR=22571;RO=759;RPL=313;RPP=59.2959;RPPR=24.6649;RPR=454;RUN=1;SAF=428;SAP=25.4356;SAR=339;SRF=476;SRP=109.578;SRR=283;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;cytoBand=22q11.21;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;1000g2015aug_all=0.251198;avsnp147=rs5992495;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;ExAC_ALL=0.1879;ExAC_AFR=0.5139;ExAC_AMR=0.1389;ExAC_EAS=0.0655;ExAC_FIN=0.1259;ExAC_NFE=0.1665;ExAC_OTH=0.1778;ExAC_SAS=0.2041;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;PROVEAN_score=-0.64;PROVEAN_pred=N;VEST3_score=0.142;CADD_raw=-1.829;CADD_phred=0.002;DANN_score=0.245;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.79;phyloP7way_vertebrate=-0.767;phyloP20way_mammalian=-2.460;phastCons7way_vertebrate=0.019;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.766;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.5226;gnomAD_exome_AMR=0.1379;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.0634;gnomAD_exome_FIN=0.1186;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2041;gnomAD_genome_ALL=0.2514;gnomAD_genome_AFR=0.5162;gnomAD_genome_AMR=0.1256;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1348;gnomAD_genome_NFE=0.1572;gnomAD_genome_OTH=0.2002;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.206439::-0.573061;Heart_Left_Ventricle=Heart_Left_Ventricle::0.209559::-0.436539;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1549:759:22571:767:22027:-1188.48,0,-1291.79 -chr22 19885548 . G T 2772.01 . AB=0.495575;ABP=3.08717;AC=1;AF=0.5;AN=2;AO=224;CIGAR=1X;DP=452;DPB=452;DPRA=0;EPP=6.88793;EPPR=41.6545;GTI=0;LEN=1;MEANALT=3;MQM=32.1607;MQMR=35.2176;NS=1;NUMALT=1;ODDS=638.279;PAIRED=0.928571;PAIREDR=0.912037;PAO=0;PQA=0;PQR=0;PRO=0;QA=5907;QR=6186;RO=216;RPL=48;RPP=161.838;RPPR=157.587;RPR=176;RUN=1;SAF=150;SAP=59.0033;SAR=74;SRF=123;SRP=12.0581;SRR=93;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;1000g2015aug_all=0.242212;avsnp147=rs12169091;Kaviar_AF=0.111493;Kaviar_AC=17237;Kaviar_AN=154602;ExAC_ALL=0.2421;ExAC_AFR=0.5055;ExAC_AMR=0.25;ExAC_EAS=0.0960;ExAC_FIN=0.3077;ExAC_NFE=0.2105;ExAC_OTH=0.1771;ExAC_SAS=0.2133;CLNALLELEID=378611;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1753;gnomAD_exome_AFR=0.4911;gnomAD_exome_AMR=0.1389;gnomAD_exome_ASJ=0.1878;gnomAD_exome_EAS=0.0627;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1687;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2049;gnomAD_genome_ALL=0.2410;gnomAD_genome_AFR=0.4801;gnomAD_genome_AMR=0.1244;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1345;gnomAD_genome_NFE=0.1568;gnomAD_genome_OTH=0.2;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204545::-0.561474;Heart_Left_Ventricle=Heart_Left_Ventricle::0.205882::-0.437179;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:452:216:6186:224:5907:-307.345,0,-358.847 -chr22 19905802 . G A 28794.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1219;CIGAR=1X;DP=1282;DPB=1282;DPRA=0;EPP=191.166;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.9902;MQMR=35.32;NS=1;NUMALT=1;ODDS=1490.14;PAIRED=0.957342;PAIREDR=0.88;PAO=0;PQA=0;PQR=0;PRO=0;QA=35255;QR=693;RO=25;RPL=676;RPP=34.5207;RPPR=5.18177;RPR=543;RUN=1;SAF=451;SAP=182.017;SAR=768;SRF=13;SRP=3.09716;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;1000g2015aug_all=0.7498;avsnp147=rs756661;Kaviar_AF=0.119746;Kaviar_AC=18513;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6590;gnomAD_genome_AFR=0.7796;gnomAD_genome_AMR=0.7428;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.9350;gnomAD_genome_FIN=0.6282;gnomAD_genome_NFE=0.5638;gnomAD_genome_OTH=0.6235;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1282:25:693:1219:35255:-2921.78,-319.919,0 -chr22 19906511 . G A 1426.09 . AB=0.416667;ABP=17.4868;AC=1;AF=0.5;AN=2;AO=100;CIGAR=1X;DP=240;DPB=240;DPRA=0;EPP=34.3664;EPPR=3.0761;GTI=0;LEN=1;MEANALT=3;MQM=35.51;MQMR=35.7348;NS=1;NUMALT=1;ODDS=328.368;PAIRED=0.95;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=2814;QR=4078;RO=132;RPL=55;RPP=5.18177;RPPR=62.2323;RPR=45;RUN=1;SAF=32;SAP=31.1526;SAR=68;SRF=45;SRP=32.0291;SRR=87;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;cytoBand=22q11.21;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;1000g2015aug_all=0.168131;avsnp147=rs11541479;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;ExAC_ALL=0.1463;ExAC_AFR=0.3763;ExAC_AMR=0.0842;ExAC_EAS=0.0126;ExAC_FIN=0.1250;ExAC_NFE=0.1510;ExAC_OTH=0.1578;ExAC_SAS=0.1154;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1355;gnomAD_exome_AFR=0.3716;gnomAD_exome_AMR=0.0831;gnomAD_exome_ASJ=0.1627;gnomAD_exome_EAS=0.0116;gnomAD_exome_FIN=0.1131;gnomAD_exome_NFE=0.1457;gnomAD_exome_OTH=0.1472;gnomAD_exome_SAS=0.1135;gnomAD_genome_ALL=0.1985;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.0885;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.0100;gnomAD_genome_FIN=0.1289;gnomAD_genome_NFE=0.1431;gnomAD_genome_OTH=0.1612;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.153409::-0.448377;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:240:132:4078:100:2814:-156.391,0,-250.315 -chr22 19907099 . C A 9654.5 . AB=0.42097;ABP=107.006;AC=1;AF=0.5;AN=2;AO=807;CIGAR=1X;DP=1917;DPB=1917;DPRA=0;EPP=37.3691;EPPR=107.963;GTI=0;LEN=1;MEANALT=3;MQM=31.0112;MQMR=32.1659;NS=1;NUMALT=1;ODDS=2223.03;PAIRED=0.892193;PAIREDR=0.872811;PAO=0;PQA=0;PQR=0;PRO=0;QA=20791;QR=32389;RO=1085;RPL=307;RPP=103.24;RPPR=109.805;RPR=500;RUN=1;SAF=426;SAP=8.45916;SAR=381;SRF=611;SRP=40.5738;SRR=474;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;cytoBand=22q11.21;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;1000g2015aug_all=0.483027;avsnp147=rs5748469;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;ExAC_ALL=0.4445;ExAC_AFR=0.2673;ExAC_AMR=0.5702;ExAC_EAS=0.7942;ExAC_FIN=0.4653;ExAC_NFE=0.4078;ExAC_OTH=0.5167;ExAC_SAS=0.4973;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=4.24;MutationAssessor_pred=H;FATHMM_score=0.7;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=6.178;CADD_phred=28.6;DANN_score=0.996;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=15.975;hgmdPRO=.;gnomAD_exome_ALL=0.4468;gnomAD_exome_AFR=0.2220;gnomAD_exome_AMR=0.6137;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.8557;gnomAD_exome_FIN=0.4735;gnomAD_exome_NFE=0.3327;gnomAD_exome_OTH=0.4239;gnomAD_exome_SAS=0.5044;gnomAD_genome_ALL=0.3842;gnomAD_genome_AFR=0.2403;gnomAD_genome_AMR=0.6127;gnomAD_genome_ASJ=0.4536;gnomAD_genome_EAS=0.8759;gnomAD_genome_FIN=0.4773;gnomAD_genome_NFE=0.3772;gnomAD_genome_OTH=0.4131;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1917:1085:32389:807:20791:-996.834,0,-1840.69 -chr22 19907118 . G A 31537.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1699;CIGAR=1X;DP=1971;DPB=1971;DPRA=0;EPP=94.124;EPPR=28.6173;GTI=0;LEN=1;MEANALT=3;MQM=32.03;MQMR=31.3774;NS=1;NUMALT=1;ODDS=1982.56;PAIRED=0.872866;PAIREDR=0.886792;PAO=0;PQA=0;PQR=0;PRO=0;QA=42917;QR=1232;RO=53;RPL=670;RPP=167.732;RPPR=3.05127;RPR=1029;RUN=1;SAF=842;SAP=3.29787;SAR=857;SRF=33;SRP=9.93443;SRR=20;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;cytoBand=22q11.21;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;1000g2015aug_all=0.596845;avsnp147=rs5748470;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;ExAC_ALL=0.5649;ExAC_AFR=0.4302;ExAC_AMR=0.6263;ExAC_EAS=0.8092;ExAC_FIN=0.5712;ExAC_NFE=0.5426;ExAC_OTH=0.6339;ExAC_SAS=0.6157;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5712;gnomAD_exome_AFR=0.3910;gnomAD_exome_AMR=0.6922;gnomAD_exome_ASJ=0.5833;gnomAD_exome_EAS=0.8687;gnomAD_exome_FIN=0.5855;gnomAD_exome_NFE=0.4826;gnomAD_exome_OTH=0.5656;gnomAD_exome_SAS=0.6204;gnomAD_genome_ALL=0.5249;gnomAD_genome_AFR=0.4119;gnomAD_genome_AMR=0.6899;gnomAD_genome_ASJ=0.5993;gnomAD_genome_EAS=0.8856;gnomAD_genome_FIN=0.6070;gnomAD_genome_NFE=0.5193;gnomAD_genome_OTH=0.5626;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1971:53:1232:1699:42917:-3178.42,-427.352,0 -chr22 19907192 . A G 33626.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1636;CIGAR=1X;DP=1726;DPB=1726;DPRA=0;EPP=3.35009;EPPR=11.5447;GTI=0;LEN=1;MEANALT=3;MQM=31.4505;MQMR=28.9767;NS=1;NUMALT=1;ODDS=1981.19;PAIRED=0.880196;PAIREDR=0.860465;PAO=0;PQA=0;PQR=0;PRO=0;QA=47764;QR=1002;RO=43;RPL=1199;RPP=773.702;RPPR=29.7245;RPR=437;RUN=1;SAF=571;SAP=326.921;SAR=1065;SRF=22;SRP=3.0608;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;1000g2015aug_all=0.754393;avsnp147=rs5748471;Kaviar_AF=0.106415;Kaviar_AC=16452;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6644;gnomAD_genome_AFR=0.7974;gnomAD_genome_AMR=0.7470;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.9361;gnomAD_genome_FIN=0.6278;gnomAD_genome_NFE=0.5641;gnomAD_genome_OTH=0.6217;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1726:43:1002:1636:47764:-3474.4,-432.304,0 -chrX 31224684 . A G 11794.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=459;CIGAR=1X;DP=482;DPB=482;DPRA=0;EPP=6.45911;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.6231;MQMR=8;NS=1;NUMALT=1;ODDS=636.635;PAIRED=0.978214;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14066;QR=21;RO=1;RPL=142;RPP=147.893;RPPR=5.18177;RPR=317;RUN=1;SAF=279;SAP=49.3776;SAR=180;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;esp6500siv2_all=0.8265;esp6500siv2_ea=0.8793;esp6500siv2_all=0.8265;esp6500siv2_ea=0.8793;1000g2015aug_all=0.803974;avsnp147=rs2293668;Kaviar_AF=0.819032;Kaviar_AC=126624;Kaviar_AN=154602;ExAC_ALL=0.8836;ExAC_AFR=0.7648;ExAC_AMR=0.9364;ExAC_EAS=0.8401;ExAC_FIN=0.9095;ExAC_NFE=0.9039;ExAC_OTH=0.8868;ExAC_SAS=0.8594;CLNALLELEID=100754;CLNDN=Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8678;gnomAD_exome_AFR=0.7396;gnomAD_exome_AMR=0.9213;gnomAD_exome_ASJ=0.8616;gnomAD_exome_EAS=0.8037;gnomAD_exome_FIN=0.8828;gnomAD_exome_NFE=0.8838;gnomAD_exome_OTH=0.8921;gnomAD_exome_SAS=0.8357;gnomAD_genome_ALL=0.8406;gnomAD_genome_AFR=0.7370;gnomAD_genome_AMR=0.9152;gnomAD_genome_ASJ=0.8723;gnomAD_genome_EAS=0.7939;gnomAD_genome_FIN=0.8858;gnomAD_genome_NFE=0.8864;gnomAD_genome_OTH=0.8396;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:482:1:21:459:14066:-1202.7,-137.773,0 -chrX 31496350 . C T 17463.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=759;CIGAR=1X;DP=784;DPB=784;DPRA=0;EPP=137.73;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=37.0659;MQMR=35.6667;NS=1;NUMALT=1;ODDS=1032.81;PAIRED=0.924901;PAIREDR=0.333333;PAO=0;PQA=0;PQR=0;PRO=0;QA=21322;QR=64;RO=3;RPL=295;RPP=84.7223;RPPR=3.73412;RPR=464;RUN=1;SAF=366;SAP=5.09594;SAR=393;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q;cytoBand=Xp21.2;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;1000g2015aug_all=0.881854;avsnp147=rs1800280;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.9045;ExAC_AFR=0.9888;ExAC_AMR=0.7877;ExAC_EAS=0.9234;ExAC_FIN=0.9421;ExAC_NFE=0.9459;ExAC_OTH=0.9300;ExAC_SAS=0.7103;CLNALLELEID=177478;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.624;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.203;CADD_raw=2.138;CADD_phred=17.10;DANN_score=0.834;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.23;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.899;hgmdPRO=id:CM135605#"Muscular_dystrophy_Duchenne";gnomAD_exome_ALL=0.8970;gnomAD_exome_AFR=0.9900;gnomAD_exome_AMR=0.7949;gnomAD_exome_ASJ=0.9789;gnomAD_exome_EAS=0.9222;gnomAD_exome_FIN=0.9416;gnomAD_exome_NFE=0.9407;gnomAD_exome_OTH=0.9166;gnomAD_exome_SAS=0.7056;gnomAD_genome_ALL=0.9524;gnomAD_genome_AFR=0.9879;gnomAD_genome_AMR=0.8336;gnomAD_genome_ASJ=0.9565;gnomAD_genome_EAS=0.9268;gnomAD_genome_FIN=0.9410;gnomAD_genome_NFE=0.9457;gnomAD_genome_OTH=0.9392;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:784:3:64:759:21322:-1771.78,-223.748,0 -chrX 32380996 . C T 13021.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=561;CIGAR=1X;DP=582;DPB=582;DPRA=0;EPP=3.10707;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.7005;MQMR=39.25;NS=1;NUMALT=1;ODDS=712.712;PAIRED=0.982175;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=15904;QR=243;RO=8;RPL=390;RPP=188.654;RPPR=4.09604;RPR=171;RUN=1;SAF=225;SAP=50.7014;SAR=336;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon9:c.G1211A:p.R404H,DMD:NM_004012:exon9:c.G1202A:p.R401H,DMD:NM_000109:exon37:c.G5210A:p.R1737H,DMD:NM_004006:exon37:c.G5234A:p.R1745H,DMD:NM_004009:exon37:c.G5222A:p.R1741H,DMD:NM_004010:exon37:c.G4865A:p.R1622H;cytoBand=Xp21.1;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;1000g2015aug_all=0.465166;avsnp147=rs1801187;Kaviar_AF=0.482982;Kaviar_AC=74670;Kaviar_AN=154602;ExAC_ALL=0.5142;ExAC_AFR=0.0782;ExAC_AMR=0.7450;ExAC_EAS=0.7371;ExAC_FIN=0.5348;ExAC_NFE=0.4823;ExAC_OTH=0.5008;ExAC_SAS=0.6657;CLNALLELEID=100557;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.4;CADD_raw=6.788;CADD_phred=32;DANN_score=1.000;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=17.920;hgmdPRO=.;gnomAD_exome_ALL=0.5294;gnomAD_exome_AFR=0.0713;gnomAD_exome_AMR=0.7287;gnomAD_exome_ASJ=0.4467;gnomAD_exome_EAS=0.7340;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4775;gnomAD_exome_OTH=0.5219;gnomAD_exome_SAS=0.6587;gnomAD_genome_ALL=0.3913;gnomAD_genome_AFR=0.0789;gnomAD_genome_AMR=0.6987;gnomAD_genome_ASJ=0.4293;gnomAD_genome_EAS=0.7234;gnomAD_genome_FIN=0.5224;gnomAD_genome_NFE=0.4730;gnomAD_genome_OTH=0.5245;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:582:8:243:561:15904:-1327.29,-150.529,0 -chrX 32472763 . CTTTTTTTTTTTTTA CTTTTTTTTTTTTTTA 674.893 . AB=0.342205;ABP=59.8897;AC=1;AF=0.5;AN=2;AO=90;CIGAR=1M1I14M;DP=263;DPB=278.133;DPRA=0;EPP=135.132;EPPR=51.5402;GTI=0;LEN=1;MEANALT=30;MQM=28.1889;MQMR=31.9767;NS=1;NUMALT=1;ODDS=74.6883;PAIRED=1;PAIREDR=0.930233;PAO=6;PQA=107.5;PQR=107.5;PRO=6;QA=1953;QR=1324;RO=43;RPL=75;RPP=89.8692;RPPR=11.5447;RPR=15;RUN=1;SAF=79;SAP=114.576;SAR=11;SRF=32;SRP=25.2805;SRR=11;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;1000g2015aug_all=0.464106;avsnp147=rs5902031;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;ExAC_ALL=0.4978;ExAC_AFR=0.2142;ExAC_AMR=0.5211;ExAC_EAS=0.5235;ExAC_FIN=0.6202;ExAC_NFE=0.5093;ExAC_OTH=0.5461;ExAC_SAS=0.5703;CLNALLELEID=193126;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4290;gnomAD_exome_AFR=0.2303;gnomAD_exome_AMR=0.4554;gnomAD_exome_ASJ=0.4264;gnomAD_exome_EAS=0.4593;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.4423;gnomAD_exome_OTH=0.4308;gnomAD_exome_SAS=0.4395;gnomAD_genome_ALL=0.5453;gnomAD_genome_AFR=0.2239;gnomAD_genome_AMR=0.7074;gnomAD_genome_ASJ=0.6408;gnomAD_genome_EAS=0.7851;gnomAD_genome_FIN=0.6083;gnomAD_genome_NFE=0.6948;gnomAD_genome_OTH=0.7;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:263:43:1324:90:1953:-114.416,0,-50.3619 -chrX 32503194 . T C 12570.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=508;CIGAR=1X;DP=525;DPB=525;DPRA=0;EPP=34.6249;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.2933;MQMR=38.3333;NS=1;NUMALT=1;ODDS=657.595;PAIRED=0.970472;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=15166;QR=172;RO=6;RPL=361;RPP=198.768;RPPR=3.0103;RPR=147;RUN=1;SAF=194;SAP=64.5638;SAR=314;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon21:c.A2621G:p.D874G,DMD:NM_004006:exon21:c.A2645G:p.D882G,DMD:NM_004009:exon21:c.A2633G:p.D878G,DMD:NM_004010:exon21:c.A2276G:p.D759G;cytoBand=Xp21.1;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;1000g2015aug_all=0.748344;avsnp147=rs228406;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;ExAC_ALL=0.7211;ExAC_AFR=0.6282;ExAC_AMR=0.8661;ExAC_EAS=0.8837;ExAC_FIN=0.8215;ExAC_NFE=0.6644;ExAC_OTH=0.7211;ExAC_SAS=0.7829;CLNALLELEID=177575;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.523;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.185;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.056;CADD_raw=0.631;CADD_phred=8.366;DANN_score=0.803;fathmm-MKL_coding_score=0.573;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.07;phyloP7way_vertebrate=-2.035;phyloP20way_mammalian=-0.288;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=5.710;hgmdPRO=.;gnomAD_exome_ALL=0.7295;gnomAD_exome_AFR=0.6262;gnomAD_exome_AMR=0.8538;gnomAD_exome_ASJ=0.6110;gnomAD_exome_EAS=0.8862;gnomAD_exome_FIN=0.8121;gnomAD_exome_NFE=0.6613;gnomAD_exome_OTH=0.7125;gnomAD_exome_SAS=0.7806;gnomAD_genome_ALL=0.6958;gnomAD_genome_AFR=0.6291;gnomAD_genome_AMR=0.8068;gnomAD_genome_ASJ=0.6243;gnomAD_genome_EAS=0.8869;gnomAD_genome_FIN=0.8215;gnomAD_genome_NFE=0.6750;gnomAD_genome_OTH=0.7336;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:525:6:172:508:15166:-1289.25,-140.616,0 -chrX 119590533 . T A 13715.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=557;CIGAR=1X;DP=567;DPB=567;DPRA=0;EPP=435.313;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=40.7199;MQMR=39.8889;NS=1;NUMALT=1;ODDS=708.61;PAIRED=0.985637;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=16543;QR=205;RO=9;RPL=235;RPP=32.5182;RPPR=9.04217;RPR=322;RUN=1;SAF=253;SAP=13.1503;SAR=304;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon2:c.A156T:p.V52V,LAMP2:NM_002294:exon2:c.A156T:p.V52V,LAMP2:NM_013995:exon2:c.A156T:p.V52V;cytoBand=Xq24;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;1000g2015aug_all=0.380927;avsnp147=rs12097;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=0.4280;ExAC_AFR=0.3712;ExAC_AMR=0.3301;ExAC_EAS=0.4138;ExAC_FIN=0.4945;ExAC_NFE=0.4528;ExAC_OTH=0.4165;ExAC_SAS=0.4478;CLNALLELEID=53583;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3895;gnomAD_exome_AFR=0.3442;gnomAD_exome_AMR=0.3115;gnomAD_exome_ASJ=0.4072;gnomAD_exome_EAS=0.3817;gnomAD_exome_FIN=0.4445;gnomAD_exome_NFE=0.4100;gnomAD_exome_OTH=0.3740;gnomAD_exome_SAS=0.3989;gnomAD_genome_ALL=0.4039;gnomAD_genome_AFR=0.3573;gnomAD_genome_AMR=0.3436;gnomAD_genome_ASJ=0.4348;gnomAD_genome_EAS=0.3719;gnomAD_genome_FIN=0.4629;gnomAD_genome_NFE=0.4223;gnomAD_genome_OTH=0.3971;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:567:9:205:557:16543:-1423.78,-152.179,0
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/TSI_annotated.vcf Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,4120 @@ +##fileformat=VCFv4.1 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20150218 +##reference=ftp://ftp.1000genomes.ebi.ac.uk//vol1/ftp/technical/reference/phase2_reference_assembly_sequence/hs37d5.fa.gz +##source=1000GenomesPhase3Pipeline +##contig=<ID=1,assembly=b37,length=249250621> +##contig=<ID=2,assembly=b37,length=243199373> +##contig=<ID=3,assembly=b37,length=198022430> +##contig=<ID=4,assembly=b37,length=191154276> +##contig=<ID=5,assembly=b37,length=180915260> +##contig=<ID=6,assembly=b37,length=171115067> +##contig=<ID=7,assembly=b37,length=159138663> +##contig=<ID=8,assembly=b37,length=146364022> +##contig=<ID=9,assembly=b37,length=141213431> +##contig=<ID=10,assembly=b37,length=135534747> +##contig=<ID=11,assembly=b37,length=135006516> +##contig=<ID=12,assembly=b37,length=133851895> +##contig=<ID=13,assembly=b37,length=115169878> 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element"> +##ALT=<ID=INS:ME:LINE1,Description="Insertion of LINE1 element"> +##ALT=<ID=INS:ME:SVA,Description="Insertion of SVA element"> +##ALT=<ID=INS:MT,Description="Nuclear Mitochondrial Insertion"> +##ALT=<ID=INV,Description="Inversion"> +##ALT=<ID=CN0,Description="Copy number allele: 0 copies"> +##ALT=<ID=CN1,Description="Copy number allele: 1 copy"> +##ALT=<ID=CN2,Description="Copy number allele: 2 copies"> +##ALT=<ID=CN3,Description="Copy number allele: 3 copies"> +##ALT=<ID=CN4,Description="Copy number allele: 4 copies"> +##ALT=<ID=CN5,Description="Copy number allele: 5 copies"> +##ALT=<ID=CN6,Description="Copy number allele: 6 copies"> +##ALT=<ID=CN7,Description="Copy number allele: 7 copies"> +##ALT=<ID=CN8,Description="Copy number allele: 8 copies"> +##ALT=<ID=CN9,Description="Copy number allele: 9 copies"> +##ALT=<ID=CN10,Description="Copy number allele: 10 copies"> +##ALT=<ID=CN11,Description="Copy number allele: 11 copies"> +##ALT=<ID=CN12,Description="Copy number allele: 12 copies"> +##ALT=<ID=CN13,Description="Copy number allele: 13 copies"> +##ALT=<ID=CN14,Description="Copy number allele: 14 copies"> +##ALT=<ID=CN15,Description="Copy number allele: 15 copies"> +##ALT=<ID=CN16,Description="Copy number allele: 16 copies"> +##ALT=<ID=CN17,Description="Copy number allele: 17 copies"> +##ALT=<ID=CN18,Description="Copy number allele: 18 copies"> +##ALT=<ID=CN19,Description="Copy number allele: 19 copies"> +##ALT=<ID=CN20,Description="Copy number allele: 20 copies"> +##ALT=<ID=CN21,Description="Copy number allele: 21 copies"> +##ALT=<ID=CN22,Description="Copy number allele: 22 copies"> +##ALT=<ID=CN23,Description="Copy number allele: 23 copies"> +##ALT=<ID=CN24,Description="Copy number allele: 24 copies"> +##ALT=<ID=CN25,Description="Copy number allele: 25 copies"> +##ALT=<ID=CN26,Description="Copy number allele: 26 copies"> +##ALT=<ID=CN27,Description="Copy number allele: 27 copies"> +##ALT=<ID=CN28,Description="Copy number allele: 28 copies"> +##ALT=<ID=CN29,Description="Copy number allele: 29 copies"> +##ALT=<ID=CN30,Description="Copy number allele: 30 copies"> +##ALT=<ID=CN31,Description="Copy number allele: 31 copies"> +##ALT=<ID=CN32,Description="Copy number allele: 32 copies"> +##ALT=<ID=CN33,Description="Copy number allele: 33 copies"> +##ALT=<ID=CN34,Description="Copy number allele: 34 copies"> +##ALT=<ID=CN35,Description="Copy number allele: 35 copies"> +##ALT=<ID=CN36,Description="Copy number allele: 36 copies"> +##ALT=<ID=CN37,Description="Copy number allele: 37 copies"> +##ALT=<ID=CN38,Description="Copy number allele: 38 copies"> +##ALT=<ID=CN39,Description="Copy number allele: 39 copies"> +##ALT=<ID=CN40,Description="Copy number allele: 40 copies"> +##ALT=<ID=CN41,Description="Copy number allele: 41 copies"> +##ALT=<ID=CN42,Description="Copy number allele: 42 copies"> +##ALT=<ID=CN43,Description="Copy number allele: 43 copies"> +##ALT=<ID=CN44,Description="Copy number allele: 44 copies"> +##ALT=<ID=CN45,Description="Copy number allele: 45 copies"> +##ALT=<ID=CN46,Description="Copy number allele: 46 copies"> +##ALT=<ID=CN47,Description="Copy number allele: 47 copies"> +##ALT=<ID=CN48,Description="Copy number allele: 48 copies"> +##ALT=<ID=CN49,Description="Copy number allele: 49 copies"> +##ALT=<ID=CN50,Description="Copy number allele: 50 copies"> +##ALT=<ID=CN51,Description="Copy number allele: 51 copies"> +##ALT=<ID=CN52,Description="Copy number allele: 52 copies"> +##ALT=<ID=CN53,Description="Copy number allele: 53 copies"> +##ALT=<ID=CN54,Description="Copy number allele: 54 copies"> +##ALT=<ID=CN55,Description="Copy number allele: 55 copies"> +##ALT=<ID=CN56,Description="Copy number allele: 56 copies"> +##ALT=<ID=CN57,Description="Copy number allele: 57 copies"> +##ALT=<ID=CN58,Description="Copy number allele: 58 copies"> +##ALT=<ID=CN59,Description="Copy number allele: 59 copies"> +##ALT=<ID=CN60,Description="Copy number allele: 60 copies"> +##ALT=<ID=CN61,Description="Copy number allele: 61 copies"> +##ALT=<ID=CN62,Description="Copy number allele: 62 copies"> +##ALT=<ID=CN63,Description="Copy number allele: 63 copies"> +##ALT=<ID=CN64,Description="Copy number allele: 64 copies"> +##ALT=<ID=CN65,Description="Copy number allele: 65 copies"> +##ALT=<ID=CN66,Description="Copy number allele: 66 copies"> +##ALT=<ID=CN67,Description="Copy number allele: 67 copies"> +##ALT=<ID=CN68,Description="Copy number allele: 68 copies"> +##ALT=<ID=CN69,Description="Copy number allele: 69 copies"> +##ALT=<ID=CN70,Description="Copy number allele: 70 copies"> +##ALT=<ID=CN71,Description="Copy number allele: 71 copies"> +##ALT=<ID=CN72,Description="Copy number allele: 72 copies"> +##ALT=<ID=CN73,Description="Copy number allele: 73 copies"> +##ALT=<ID=CN74,Description="Copy number allele: 74 copies"> +##ALT=<ID=CN75,Description="Copy number allele: 75 copies"> +##ALT=<ID=CN76,Description="Copy number allele: 76 copies"> +##ALT=<ID=CN77,Description="Copy number allele: 77 copies"> +##ALT=<ID=CN78,Description="Copy number allele: 78 copies"> +##ALT=<ID=CN79,Description="Copy number allele: 79 copies"> +##ALT=<ID=CN80,Description="Copy number allele: 80 copies"> +##ALT=<ID=CN81,Description="Copy number allele: 81 copies"> +##ALT=<ID=CN82,Description="Copy number allele: 82 copies"> +##ALT=<ID=CN83,Description="Copy number allele: 83 copies"> +##ALT=<ID=CN84,Description="Copy number allele: 84 copies"> +##ALT=<ID=CN85,Description="Copy number allele: 85 copies"> +##ALT=<ID=CN86,Description="Copy number allele: 86 copies"> +##ALT=<ID=CN87,Description="Copy number allele: 87 copies"> +##ALT=<ID=CN88,Description="Copy number allele: 88 copies"> +##ALT=<ID=CN89,Description="Copy number allele: 89 copies"> +##ALT=<ID=CN90,Description="Copy number allele: 90 copies"> +##ALT=<ID=CN91,Description="Copy number allele: 91 copies"> +##ALT=<ID=CN92,Description="Copy number allele: 92 copies"> +##ALT=<ID=CN93,Description="Copy number allele: 93 copies"> +##ALT=<ID=CN94,Description="Copy number allele: 94 copies"> +##ALT=<ID=CN95,Description="Copy number allele: 95 copies"> +##ALT=<ID=CN96,Description="Copy number allele: 96 copies"> +##ALT=<ID=CN97,Description="Copy number allele: 97 copies"> +##ALT=<ID=CN98,Description="Copy number allele: 98 copies"> +##ALT=<ID=CN99,Description="Copy number allele: 99 copies"> +##ALT=<ID=CN100,Description="Copy number allele: 100 copies"> +##ALT=<ID=CN101,Description="Copy number allele: 101 copies"> +##ALT=<ID=CN102,Description="Copy number allele: 102 copies"> +##ALT=<ID=CN103,Description="Copy number allele: 103 copies"> +##ALT=<ID=CN104,Description="Copy number allele: 104 copies"> +##ALT=<ID=CN105,Description="Copy number allele: 105 copies"> +##ALT=<ID=CN106,Description="Copy number allele: 106 copies"> +##ALT=<ID=CN107,Description="Copy number allele: 107 copies"> +##ALT=<ID=CN108,Description="Copy number allele: 108 copies"> +##ALT=<ID=CN109,Description="Copy number allele: 109 copies"> +##ALT=<ID=CN110,Description="Copy number allele: 110 copies"> +##ALT=<ID=CN111,Description="Copy number allele: 111 copies"> +##ALT=<ID=CN112,Description="Copy number allele: 112 copies"> +##ALT=<ID=CN113,Description="Copy number allele: 113 copies"> +##ALT=<ID=CN114,Description="Copy number allele: 114 copies"> +##ALT=<ID=CN115,Description="Copy number allele: 115 copies"> +##ALT=<ID=CN116,Description="Copy number allele: 116 copies"> +##ALT=<ID=CN117,Description="Copy number allele: 117 copies"> +##ALT=<ID=CN118,Description="Copy number allele: 118 copies"> +##ALT=<ID=CN119,Description="Copy number allele: 119 copies"> +##ALT=<ID=CN120,Description="Copy number allele: 120 copies"> +##ALT=<ID=CN121,Description="Copy number allele: 121 copies"> +##ALT=<ID=CN122,Description="Copy number allele: 122 copies"> +##ALT=<ID=CN123,Description="Copy number allele: 123 copies"> +##ALT=<ID=CN124,Description="Copy number allele: 124 copies"> +##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> +##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> +##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> +##INFO=<ID=CS,Number=1,Type=String,Description="Source call set."> +##INFO=<ID=END,Number=1,Type=Integer,Description="End coordinate of this variant"> +##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> +##INFO=<ID=MC,Number=.,Type=String,Description="Merged calls."> +##INFO=<ID=MEINFO,Number=4,Type=String,Description="Mobile element info of the form NAME,START,END<POLARITY; If there is only 5' OR 3' support for this call, will be NULL NULL for START and END"> +##INFO=<ID=MEND,Number=1,Type=Integer,Description="Mitochondrial end coordinate of inserted sequence"> +##INFO=<ID=MLEN,Number=1,Type=Integer,Description="Estimated length of mitochondrial insert"> +##INFO=<ID=MSTART,Number=1,Type=Integer,Description="Mitochondrial start coordinate of inserted sequence"> +##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="SV length. It is only calculated for structural variation MEIs. For other types of SVs; one may calculate the SV length by INFO:END-START+1, or by finding the difference between lengthes of REF and ALT alleles"> +##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> +##INFO=<ID=TSD,Number=1,Type=String,Description="Precise Target Site Duplication for bases, if unknown, value will be NULL"> +##INFO=<ID=AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> +##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1)"> +##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##INFO=<ID=EAS_AF,Number=A,Type=Float,Description="Allele frequency in the EAS populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=EUR_AF,Number=A,Type=Float,Description="Allele frequency in the EUR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=AFR_AF,Number=A,Type=Float,Description="Allele frequency in the AFR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=AMR_AF,Number=A,Type=Float,Description="Allele frequency in the AMR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=SAS_AF,Number=A,Type=Float,Description="Allele frequency in the SAS populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth; only low coverage data were counted towards the DP, exome data were not used"> +##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele. Format: AA|REF|ALT|IndelType. AA: Ancestral allele, REF:Reference Allele, ALT:Alternate Allele, IndelType:Type of Indel (REF, ALT and IndelType are only defined for indels)"> +##INFO=<ID=VT,Number=.,Type=String,Description="indicates what type of variant the line represents"> +##INFO=<ID=EX_TARGET,Number=0,Type=Flag,Description="indicates whether a variant is within the exon pull down target boundaries"> +##INFO=<ID=MULTI_ALLELIC,Number=0,Type=Flag,Description="indicates whether a site is multi-allelic"> +##bcftools_viewVersion=1.9-219-ge560580+htslib-1.9-292-g997872e +##bcftools_viewCommand=view -O v -c 1 -a -S TSI genome.vcf.gz; Date=Thu Aug 8 12:42:16 2019 +##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele"> +##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR"> +##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR"> +##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR"> +##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR"> +##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR"> +##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR"> +##INFO=<ID=GWAS,Number=.,Type=String,Description="GWAS annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_P,Number=.,Type=String,Description="ORegAnno_REGULATORY_P annotation provided by ANNOVAR"> +##INFO=<ID=avsnp150,Number=.,Type=String,Description="avsnp150 annotation provided by ANNOVAR"> +##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR"> +##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR"> +##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR"> +##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR"> +##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_converted_rankscore,Number=.,Type=String,Description="SIFT_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_rankscore,Number=.,Type=String,Description="Polyphen2_HDIV_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_rankscore,Number=.,Type=String,Description="Polyphen2_HVAR_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR"> +##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR"> +##INFO=<ID=LRT_converted_rankscore,Number=.,Type=String,Description="LRT_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_converted_rankscore,Number=.,Type=String,Description="MutationTaster_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_score_rankscore,Number=.,Type=String,Description="MutationAssessor_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_converted_rankscore,Number=.,Type=String,Description="FATHMM_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_converted_rankscore,Number=.,Type=String,Description="PROVEAN_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR"> +##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR"> +##INFO=<ID=VEST3_rankscore,Number=.,Type=String,Description="VEST3_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_rankscore,Number=.,Type=String,Description="MetaSVM_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_rankscore,Number=.,Type=String,Description="MetaLR_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_score,Number=.,Type=String,Description="M-CAP_score annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_rankscore,Number=.,Type=String,Description="M-CAP_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_pred,Number=.,Type=String,Description="M-CAP_pred annotation provided by ANNOVAR"> +##INFO=<ID=REVEL_score,Number=.,Type=String,Description="REVEL_score annotation provided by ANNOVAR"> +##INFO=<ID=REVEL_rankscore,Number=.,Type=String,Description="REVEL_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutPred_score,Number=.,Type=String,Description="MutPred_score annotation provided by ANNOVAR"> +##INFO=<ID=MutPred_rankscore,Number=.,Type=String,Description="MutPred_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR"> +##INFO=<ID=CADD_raw_rankscore,Number=.,Type=String,Description="CADD_raw_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR"> +##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR"> +##INFO=<ID=DANN_rankscore,Number=.,Type=String,Description="DANN_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_rankscore,Number=.,Type=String,Description="fathmm-MKL_coding_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR"> +##INFO=<ID=Eigen_coding_or_noncoding,Number=.,Type=String,Description="Eigen_coding_or_noncoding annotation provided by ANNOVAR"> +##INFO=<ID=Eigen-raw,Number=.,Type=String,Description="Eigen-raw annotation provided by ANNOVAR"> +##INFO=<ID=Eigen-PC-raw,Number=.,Type=String,Description="Eigen-PC-raw annotation provided by ANNOVAR"> +##INFO=<ID=GenoCanyon_score,Number=.,Type=String,Description="GenoCanyon_score annotation provided by ANNOVAR"> +##INFO=<ID=GenoCanyon_score_rankscore,Number=.,Type=String,Description="GenoCanyon_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR"> +##INFO=<ID=integrated_fitCons_score_rankscore,Number=.,Type=String,Description="integrated_fitCons_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR"> +##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR"> +##INFO=<ID=GERP++_RS_rankscore,Number=.,Type=String,Description="GERP++_RS_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phyloP100way_vertebrate,Number=.,Type=String,Description="phyloP100way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phyloP100way_vertebrate_rankscore,Number=.,Type=String,Description="phyloP100way_vertebrate_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=phyloP20way_mammalian_rankscore,Number=.,Type=String,Description="phyloP20way_mammalian_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phastCons100way_vertebrate,Number=.,Type=String,Description="phastCons100way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phastCons100way_vertebrate_rankscore,Number=.,Type=String,Description="phastCons100way_vertebrate_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=phastCons20way_mammalian_rankscore,Number=.,Type=String,Description="phastCons20way_mammalian_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR"> +##INFO=<ID=SiPhy_29way_logOdds_rankscore,Number=.,Type=String,Description="SiPhy_29way_logOdds_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Interpro_domain,Number=.,Type=String,Description="Interpro_domain annotation provided by ANNOVAR"> +##INFO=<ID=GTEx_V6p_gene,Number=.,Type=String,Description="GTEx_V6p_gene annotation provided by ANNOVAR"> +##INFO=<ID=GTEx_V6p_tissue,Number=.,Type=String,Description="GTEx_V6p_tissue annotation provided by ANNOVAR"> +##INFO=<ID=dbscSNV_ADA_SCORE,Number=.,Type=String,Description="dbscSNV_ADA_SCORE annotation provided by ANNOVAR"> +##INFO=<ID=dbscSNV_RF_SCORE,Number=.,Type=String,Description="dbscSNV_RF_SCORE annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_ALL,Number=.,Type=String,Description="ExAC_nontcga_ALL annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_AFR,Number=.,Type=String,Description="ExAC_nontcga_AFR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_AMR,Number=.,Type=String,Description="ExAC_nontcga_AMR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_EAS,Number=.,Type=String,Description="ExAC_nontcga_EAS annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_FIN,Number=.,Type=String,Description="ExAC_nontcga_FIN annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_NFE,Number=.,Type=String,Description="ExAC_nontcga_NFE annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_OTH,Number=.,Type=String,Description="ExAC_nontcga_OTH annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_SAS,Number=.,Type=String,Description="ExAC_nontcga_SAS annotation provided by ANNOVAR"> +##INFO=<ID=AF,Number=.,Type=String,Description="AF annotation provided by ANNOVAR"> +##INFO=<ID=AF_popmax,Number=.,Type=String,Description="AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=AF_male,Number=.,Type=String,Description="AF_male annotation provided by ANNOVAR"> +##INFO=<ID=AF_female,Number=.,Type=String,Description="AF_female annotation provided by ANNOVAR"> +##INFO=<ID=AF_raw,Number=.,Type=String,Description="AF_raw annotation provided by ANNOVAR"> +##INFO=<ID=AF_afr,Number=.,Type=String,Description="AF_afr annotation provided by ANNOVAR"> +##INFO=<ID=AF_sas,Number=.,Type=String,Description="AF_sas annotation provided by ANNOVAR"> +##INFO=<ID=AF_amr,Number=.,Type=String,Description="AF_amr annotation provided by ANNOVAR"> +##INFO=<ID=AF_eas,Number=.,Type=String,Description="AF_eas annotation provided by ANNOVAR"> +##INFO=<ID=AF_nfe,Number=.,Type=String,Description="AF_nfe annotation provided by ANNOVAR"> +##INFO=<ID=AF_fin,Number=.,Type=String,Description="AF_fin annotation provided by ANNOVAR"> +##INFO=<ID=AF_asj,Number=.,Type=String,Description="AF_asj annotation provided by ANNOVAR"> +##INFO=<ID=AF_oth,Number=.,Type=String,Description="AF_oth annotation provided by ANNOVAR"> +##INFO=<ID=non_topmed_AF_popmax,Number=.,Type=String,Description="non_topmed_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=non_neuro_AF_popmax,Number=.,Type=String,Description="non_neuro_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=non_cancer_AF_popmax,Number=.,Type=String,Description="non_cancer_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=controls_AF_popmax,Number=.,Type=String,Description="controls_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Atrial_Appendage,Number=.,Type=String,Description="Heart_Atrial_Appendage annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Left_Ventricle,Number=.,Type=String,Description="Heart_Left_Ventricle annotation provided by ANNOVAR"> +##INFO=<ID=ENSEMBLReg,Number=.,Type=String,Description="ENSEMBLReg annotation provided by ANNOVAR"> +##INFO=<ID=ENSTFBS,Number=.,Type=String,Description="ENSTFBS annotation provided by ANNOVAR"> +##INFO=<ID=ENSmiRNA,Number=.,Type=String,Description="ENSmiRNA annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_R,Number=.,Type=String,Description="ORegAnno_REGULATORY_R annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_TFBS,Number=.,Type=String,Description="ORegAnno_REGULATORY_TFBS annotation provided by ANNOVAR"> +##INFO=<ID=ORegmiRNA,Number=.,Type=String,Description="ORegmiRNA annotation provided by ANNOVAR"> +##INFO=<ID=nCER95,Number=.,Type=String,Description="nCER95 annotation provided by ANNOVAR"> +##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele"> +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA20502 NA20503 NA20504 NA20505 NA20506 NA20507 NA20508 NA20509 NA20510 NA20511 NA20512 NA20513 NA20514 NA20515 NA20516 NA20517 NA20518 NA20519 NA20520 NA20521 NA20522 NA20524 NA20525 NA20527 NA20528 NA20529 NA20530 NA20531 NA20532 NA20533 NA20534 NA20535 NA20536 NA20538 NA20539 NA20540 NA20541 NA20542 NA20543 NA20544 NA20581 NA20582 NA20585 NA20586 NA20587 NA20588 NA20589 NA20752 NA20753 NA20754 NA20755 NA20756 NA20757 NA20758 NA20759 NA20760 NA20761 NA20762 NA20763 NA20764 NA20765 NA20766 NA20767 NA20768 NA20769 NA20770 NA20771 NA20772 NA20773 NA20774 NA20775 NA20778 NA20783 NA20785 NA20786 NA20787 NA20790 NA20792 NA20795 NA20796 NA20797 NA20798 NA20799 NA20800 NA20801 NA20802 NA20803 NA20804 NA20805 NA20806 NA20807 NA20808 NA20809 NA20810 NA20811 NA20812 NA20813 NA20814 NA20815 NA20818 NA20819 NA20821 NA20822 NA20826 NA20827 NA20828 NA20832 +10 18429624 rs138094231 C A 100 PASS AC=11;AF=0.0301518;AN=214;NS=2504;DP=8057;EAS_AF=0.001;AMR_AF=0.0202;AFR_AF=0.0567;EUR_AF=0.0388;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.-42C>A\x3bNM_201593:c.-42C>A\x3bNM_201596:c.-42C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138094231;CLNALLELEID=188466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0423;ExAC_nontcga_AFR=0.0803;ExAC_nontcga_AMR=0.0313;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0699;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0630;ExAC_nontcga_SAS=0.0384;AF=0.0429;AF_popmax=0.0626;AF_male=0.0435;AF_female=0.0421;AF_raw=0.0431;AF_afr=0.0626;AF_sas=.;AF_amr=0.0179;AF_eas=0;AF_nfe=0.0379;AF_fin=0.0442;AF_asj=0.0207;AF_oth=0.0389;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0602;non_cancer_AF_popmax=.;controls_AF_popmax=0.0606;Kaviar_AF=0.026261;Kaviar_AC=4060;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338950;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 18429627 rs558264472 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8348;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.-39C>T\x3bNM_201593:c.-39C>T\x3bNM_201596:c.-39C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558264472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.221e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.08e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338950;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18429839 rs559931446 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_001167945:c.-270C>T\x3bNM_201571:c.-270C>T\x3bNM_201572:c.-270C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559931446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0027;AF_popmax=0.0022;AF_male=0.0021;AF_female=0.0035;AF_raw=0.0027;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0121;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0010758;Kaviar_AC=28;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.266735;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430167 rs150534429 G C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430169 rs200606264 G T 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=7050;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0333;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200606264;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0308;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0085;AF_popmax=0.0305;AF_male=0.0093;AF_female=0.0075;AF_raw=0.0087;AF_afr=0.0305;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0304;non_neuro_AF_popmax=0.0270;non_cancer_AF_popmax=.;controls_AF_popmax=0.0304;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.128546;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430220 rs12572321 G A 100 PASS AC=34;AF=0.107628;AN=214;NS=2504;DP=9662;EAS_AF=0.0506;AMR_AF=0.2522;AFR_AF=0.0454;EUR_AF=0.1441;SAS_AF=0.1104;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.107628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12572321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0995;AF_popmax=0.2050;AF_male=0.0975;AF_female=0.1021;AF_raw=0.0996;AF_afr=0.0587;AF_sas=.;AF_amr=0.2050;AF_eas=0.0468;AF_nfe=0.1136;AF_fin=0.1218;AF_asj=0.1;AF_oth=0.1504;non_topmed_AF_popmax=0.1968;non_neuro_AF_popmax=0.2;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0210799;Kaviar_AC=3259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.519956;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 +10 18439747 rs61545603 C T 100 PASS AC=31;AF=0.0970447;AN=214;NS=2504;DP=14502;EAS_AF=0.1091;AMR_AF=0.0548;AFR_AF=0.1051;EUR_AF=0.1173;SAS_AF=0.0828;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61545603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1121;AF_popmax=0.1245;AF_male=0.1109;AF_female=0.1136;AF_raw=0.1105;AF_afr=0.0940;AF_sas=.;AF_amr=0.0596;AF_eas=0.1245;AF_nfe=0.1121;AF_fin=0.1746;AF_asj=0.1111;AF_oth=0.107;non_topmed_AF_popmax=0.125;non_neuro_AF_popmax=0.1245;non_cancer_AF_popmax=.;controls_AF_popmax=0.1403;Kaviar_AF=0.0184862;Kaviar_AC=2858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 +10 18439784 rs537328775 CTTTTTTT C 100 PASS AC=7;AF=0.0900559;AN=214;NS=2504;DP=15767;EAS_AF=0.0476;AMR_AF=0.0663;AFR_AF=0.1944;EUR_AF=0.0348;SAS_AF=0.0665;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537328775;CLNALLELEID=512838;CLNDN=Brugada_syndrome_4;CLNDISDB=MedGen:C2678477,OMIM:611876;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0147;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0060;ExAC_nontcga_SAS=0.0010;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18439900 rs150722502 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14586;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_001167945:exon2:c.G125A:p.R42H,CACNB2:NM_201571:exon2:c.G125A:p.R42H,CACNB2:NM_201572:exon2:c.G125A:p.R42H,CACNB2:NM_201593:exon2:c.G209A:p.R70H,CACNB2:NM_201596:exon2:c.G209A:p.R70H,CACNB2:NM_201597:exon2:c.G209A:p.R70H;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150722502;CLNALLELEID=188474;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.255;Polyphen2_HVAR_rankscore=0.598;Polyphen2_HVAR_pred=B;LRT_score=0.105;LRT_converted_rankscore=0.196;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-1.79;FATHMM_converted_rankscore=0.842;FATHMM_pred=D;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.629;VEST3_rankscore=0.648;MetaSVM_score=0.310;MetaSVM_rankscore=0.877;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_rankscore=0.872;MetaLR_pred=D;M-CAP_score=0.026;M-CAP_rankscore=0.494;M-CAP_pred=D;REVEL_score=0.457;REVEL_rankscore=0.758;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.628;CADD_raw_rankscore=0.910;CADD_phred=32;DANN_score=0.998;DANN_rankscore=0.878;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.773;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.577;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=7.142;phyloP100way_vertebrate_rankscore=0.768;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=19.125;SiPhy_29way_logOdds_rankscore=0.933;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0013;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007956;Kaviar_AC=123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.971007;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18439926 rs79819217 T C 100 PASS AC=27;AF=0.0632987;AN=214;NS=2504;DP=13477;EAS_AF=0.0169;AMR_AF=0.0706;AFR_AF=0.0091;EUR_AF=0.1342;SAS_AF=0.1063;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0632987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79819217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1213;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.0250;ExAC_nontcga_AMR=0.0556;ExAC_nontcga_EAS=0.0198;ExAC_nontcga_FIN=0.0561;ExAC_nontcga_NFE=0.1308;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0874;AF=0.0724;AF_popmax=0.1094;AF_male=0.0699;AF_female=0.0756;AF_raw=0.0729;AF_afr=0.0231;AF_sas=.;AF_amr=0.0620;AF_eas=0.0263;AF_nfe=0.1094;AF_fin=0.0433;AF_asj=0.1713;AF_oth=0.0797;non_topmed_AF_popmax=0.1055;non_neuro_AF_popmax=0.1083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0926;Kaviar_AF=0.0965641;Kaviar_AC=14929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +10 18439993 rs142218357 A C 100 PASS AC=3;AF=0.00179712;AN=214;NS=2504;DP=16050;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142218357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0055;AF_male=0.0045;AF_female=0.0059;AF_raw=0.0051;AF_afr=0.0012;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0116;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18691018 rs3750592 G A 100 PASS AC=116;AF=0.391973;AN=214;NS=2504;DP=17455;EAS_AF=0.373;AMR_AF=0.389;AFR_AF=0.2322;EUR_AF=0.5219;SAS_AF=0.4959;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.391973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5115;ExAC_nontcga_ALL=0.4518;ExAC_nontcga_AFR=0.2670;ExAC_nontcga_AMR=0.3054;ExAC_nontcga_EAS=0.3479;ExAC_nontcga_FIN=0.5100;ExAC_nontcga_NFE=0.5044;ExAC_nontcga_OTH=0.4957;ExAC_nontcga_SAS=0.5015;AF=0.4339;AF_popmax=0.5037;AF_male=0.4310;AF_female=0.4376;AF_raw=0.4340;AF_afr=0.2746;AF_sas=.;AF_amr=0.3691;AF_eas=0.3502;AF_nfe=0.5037;AF_fin=0.5438;AF_asj=0.6310;AF_oth=0.4862;non_topmed_AF_popmax=0.4995;non_neuro_AF_popmax=0.5036;non_cancer_AF_popmax=.;controls_AF_popmax=0.4967;Kaviar_AF=0.0029819;Kaviar_AC=461;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.003371;ALLELE_END GT 1|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|1 1|0 0|1 0|1 0|0 1|1 0|1 1|1 0|1 1|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|0 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 1|1 1|0 1|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|0 +10 18691019 rs148465194 C A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=17506;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148465194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0044;AF_popmax=0.0073;AF_male=0.0050;AF_female=0.0035;AF_raw=0.0044;AF_afr=0.0016;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0074;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0057891;Kaviar_AC=895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.003371;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18787308 rs541253552 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19359;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon3:c.C193T:p.R65W,CACNB2:NM_001330060:exon3:c.C193T:p.R65W,CACNB2:NM_201570:exon3:c.C214T:p.R72W,CACNB2:NM_201590:exon3:c.C196T:p.R66W,CACNB2:NM_001167945:exon4:c.C274T:p.R92W,CACNB2:NM_201571:exon4:c.C274T:p.R92W,CACNB2:NM_201572:exon4:c.C274T:p.R92W,CACNB2:NM_201593:exon4:c.C358T:p.R120W,CACNB2:NM_201596:exon4:c.C358T:p.R120W,CACNB2:NM_201597:exon4:c.C358T:p.R120W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541253552;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.185;MutationAssessor_score_rankscore=0.891;MutationAssessor_pred=M;FATHMM_score=-2.05;FATHMM_converted_rankscore=0.858;FATHMM_pred=D;PROVEAN_score=-7.27;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST3_score=0.972;VEST3_rankscore=0.973;MetaSVM_score=0.920;MetaSVM_rankscore=0.960;MetaSVM_pred=D;MetaLR_score=0.849;MetaLR_rankscore=0.950;MetaLR_pred=D;M-CAP_score=0.223;M-CAP_rankscore=0.879;M-CAP_pred=D;REVEL_score=0.804;REVEL_rankscore=0.937;MutPred_score=0.536;MutPred_rankscore=0.646;CADD_raw=8.208;CADD_raw_rankscore=0.958;CADD_phred=35;DANN_score=0.997;DANN_rankscore=0.838;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.729;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.961;Eigen-PC-raw=0.884;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=4.906;phyloP100way_vertebrate_rankscore=0.628;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=CACNB2,_SH3_domain|SH3_domain\x3bSH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.771e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.101e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.512539;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +10 18787448 rs12257065 C G 100 PASS AC=1;AF=0.0792732;AN=214;NS=2504;DP=19602;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.2799;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12257065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0235;ExAC_nontcga_AFR=0.2388;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0018;AF=0.0680;AF_popmax=0.2357;AF_male=0.0706;AF_female=0.0647;AF_raw=0.0681;AF_afr=0.2357;AF_sas=.;AF_amr=0.0213;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0009;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.2347;non_neuro_AF_popmax=0.2363;non_cancer_AF_popmax=.;controls_AF_popmax=0.2282;Kaviar_AF=0.0226905;Kaviar_AC=3508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.867050;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18787485 rs143915127 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19857;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143915127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.556e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.017672;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18789724 rs4485000 T G 100 PASS AC=79;AF=0.229832;AN=214;NS=2504;DP=21130;EAS_AF=0.0377;AMR_AF=0.2464;AFR_AF=0.3699;EUR_AF=0.329;SAS_AF=0.1247;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229832;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4485000;CLNALLELEID=253715;CLNDN=Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3157;ExAC_nontcga_ALL=0.2730;ExAC_nontcga_AFR=0.3538;ExAC_nontcga_AMR=0.2782;ExAC_nontcga_EAS=0.0360;ExAC_nontcga_FIN=0.3671;ExAC_nontcga_NFE=0.3254;ExAC_nontcga_OTH=0.2565;ExAC_nontcga_SAS=0.1261;AF=0.3197;AF_popmax=0.3567;AF_male=0.3155;AF_female=0.3249;AF_raw=0.3197;AF_afr=0.3567;AF_sas=.;AF_amr=0.3050;AF_eas=0.0334;AF_nfe=0.3182;AF_fin=0.3693;AF_asj=0.2690;AF_oth=0.3208;non_topmed_AF_popmax=0.3564;non_neuro_AF_popmax=0.3626;non_cancer_AF_popmax=.;controls_AF_popmax=0.3518;Kaviar_AF=0.275165;Kaviar_AC=42541;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.425850;ALLELE_END GT 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 1|0 1|1 1|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 +10 18789924 rs185330033 C G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19628;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185330033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0004;AF_popmax=0.0024;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005175;Kaviar_AC=80;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795351 rs201550574 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18293;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201550574;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.797939;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795447 rs149253719 G C 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=15889;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_001330060:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149253719;CLNALLELEID=171120;CLNDN=Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.425;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.424;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.67;FATHMM_converted_rankscore=0.828;FATHMM_pred=D;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.688;VEST3_rankscore=0.730;MetaSVM_score=-0.161;MetaSVM_rankscore=0.787;MetaSVM_pred=T;MetaLR_score=0.389;MetaLR_rankscore=0.744;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.675;M-CAP_pred=D;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.683;CADD_raw_rankscore=0.384;CADD_phred=20.7;DANN_score=0.977;DANN_rankscore=0.348;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.574;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.191;Eigen-PC-raw=0.392;GenoCanyon_score=0.607;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=7.026;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.263;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=CACNB2,_SH3_domain|SH3_domain\x3bSH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0014;AF=0.0006;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.033629;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795555 rs189773039 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189773039;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0021;AF_popmax=0.0036;AF_male=0.0021;AF_female=0.0021;AF_raw=0.0021;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.470435;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795596 rs10741088 G A 100 PASS AC=82;AF=0.503395;AN=214;NS=2504;DP=15961;EAS_AF=0.6042;AMR_AF=0.5821;AFR_AF=0.4909;EUR_AF=0.3807;SAS_AF=0.4867;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503395;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10741088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4186;AF_popmax=0.5825;AF_male=0.4224;AF_female=0.4137;AF_raw=0.4191;AF_afr=0.4941;AF_sas=.;AF_amr=0.5071;AF_eas=0.5825;AF_nfe=0.3746;AF_fin=0.3394;AF_asj=0.3931;AF_oth=0.3948;non_topmed_AF_popmax=0.5866;non_neuro_AF_popmax=0.5825;non_cancer_AF_popmax=.;controls_AF_popmax=0.5889;Kaviar_AF=0.0555491;Kaviar_AC=8588;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.352273::0.377072;Heart_Left_Ventricle=Heart_Left_Ventricle::0.376838::0.291945;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.458555;ALLELE_END GT 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|0 0|0 1|0 1|1 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 +10 18803338 rs12357063 A G 100 PASS AC=4;AF=0.014377;AN=214;NS=2504;DP=21589;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0527;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12357063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0767;ExAC_nontcga_ALL=0.0454;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0634;ExAC_nontcga_NFE=0.0725;ExAC_nontcga_OTH=0.0360;ExAC_nontcga_SAS=0.0038;AF=0.0522;AF_popmax=0.0777;AF_male=0.0503;AF_female=0.0547;AF_raw=0.0523;AF_afr=0.0134;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0777;AF_fin=0.0650;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0779;non_cancer_AF_popmax=.;controls_AF_popmax=0.0788;Kaviar_AF=0.0491391;Kaviar_AC=7597;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.402466;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12357063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0767;ExAC_nontcga_ALL=0.0454;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0634;ExAC_nontcga_NFE=0.0725;ExAC_nontcga_OTH=0.0360;ExAC_nontcga_SAS=0.0038;AF=0.0522;AF_popmax=0.0777;AF_male=0.0503;AF_female=0.0547;AF_raw=0.0523;AF_afr=0.0134;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0777;AF_fin=0.0650;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0779;non_cancer_AF_popmax=.;controls_AF_popmax=0.0788;Kaviar_AF=0.0491391;Kaviar_AC=7597;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.402466;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 18804094 rs7088091 T C 100 PASS AC=86;AF=0.409545;AN=214;NS=2504;DP=18102;EAS_AF=0.7083;AMR_AF=0.304;AFR_AF=0.2874;EUR_AF=0.3718;SAS_AF=0.3804;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7088091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3616;AF_popmax=0.7219;AF_male=0.3680;AF_female=0.3536;AF_raw=0.3618;AF_afr=0.317;AF_sas=.;AF_amr=0.2866;AF_eas=0.7219;AF_nfe=0.3633;AF_fin=0.3215;AF_asj=0.3897;AF_oth=0.3610;non_topmed_AF_popmax=0.7195;non_neuro_AF_popmax=0.7219;non_cancer_AF_popmax=.;controls_AF_popmax=0.7137;Kaviar_AF=0.0725023;Kaviar_AC=11209;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325758::0.507624;Heart_Left_Ventricle=Heart_Left_Ventricle::0.321691::0.326121;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.013621;ALLELE_END GT 1|0 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 0|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +10 18807246 rs141915289 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21158;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141915289;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.772116;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18816565 rs76956014 G A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19201;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon9:c.G828A:p.S276S,CACNB2:NM_001330060:exon9:c.G714A:p.S238S,CACNB2:NM_201570:exon9:c.G849A:p.S283S,CACNB2:NM_201590:exon9:c.G831A:p.S277S,CACNB2:NM_001167945:exon10:c.G795A:p.S265S,CACNB2:NM_201571:exon10:c.G909A:p.S303S,CACNB2:NM_201572:exon10:c.G837A:p.S279S,CACNB2:NM_201593:exon10:c.G879A:p.S293S,CACNB2:NM_201596:exon10:c.G993A:p.S331S,CACNB2:NM_201597:exon10:c.G921A:p.S307S;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76956014;CLNALLELEID=240754;CLNDN=Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0110;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0021;AF=0.0079;AF_popmax=0.0113;AF_male=0.0079;AF_female=0.0080;AF_raw=0.0079;AF_afr=0.0053;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0113;AF_fin=0.0023;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.0107;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.182161;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18816633 rs4314963 C T 100 PASS AC=27;AF=0.239417;AN=214;NS=2504;DP=20549;EAS_AF=0.251;AMR_AF=0.3372;AFR_AF=0.1891;EUR_AF=0.16;SAS_AF=0.3078;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239417;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4314963;CLNALLELEID=253716;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.1603;ExAC_nontcga_ALL=0.2200;ExAC_nontcga_AFR=0.1940;ExAC_nontcga_AMR=0.4196;ExAC_nontcga_EAS=0.2697;ExAC_nontcga_FIN=0.1910;ExAC_nontcga_NFE=0.1575;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.2930;AF=0.1905;AF_popmax=0.3243;AF_male=0.1903;AF_female=0.1907;AF_raw=0.1905;AF_afr=0.1934;AF_sas=.;AF_amr=0.3243;AF_eas=0.2494;AF_nfe=0.1794;AF_fin=0.1770;AF_asj=0.1586;AF_oth=0.1863;non_topmed_AF_popmax=0.3296;non_neuro_AF_popmax=0.3051;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.206647;Kaviar_AC=31948;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.079948;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18822993 rs376222853 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17938;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376222853;CLNALLELEID=309978;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.771182;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18825201 rs141978206 T G 100 PASS AC=4;AF=0.0103834;AN=214;NS=2504;DP=25046;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0358;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141978206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0050715;Kaviar_AC=132;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 18825202 rs147375257;rs150214686 TGG GGG,T 100 PASS AC=4,130;AF=0.0103834,0.607827;AN=214;NS=2504;DP=24908;EAS_AF=0.001,0.6964;AMR_AF=0.0159,0.572;AFR_AF=0.0015,0.6029;EUR_AF=0.0358,0.5517;SAS_AF=0.002,0.6063;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147375257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0019978;Kaviar_AC=52;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.607827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150214686;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3220;AF_popmax=0.4945;AF_male=0.3265;AF_female=0.3160;AF_raw=0.2862;AF_afr=0.4458;AF_sas=.;AF_amr=0.3613;AF_eas=0.4945;AF_nfe=0.2460;AF_fin=0.1423;AF_asj=0.2536;AF_oth=0.2486;non_topmed_AF_popmax=0.4977;non_neuro_AF_popmax=0.4945;non_cancer_AF_popmax=.;controls_AF_popmax=0.4870;Kaviar_AF=0.0389196;Kaviar_AC=1013;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|2 2|2 0|0 2|2 2|2 2|2 2|2 0|0 2|0 2|0 2|2 2|0 2|2 2|2 0|2 2|2 0|2 2|0 2|0 0|0 2|2 0|0 2|0 2|2 2|2 0|0 2|2 2|0 2|2 2|2 0|2 0|2 2|2 2|0 0|2 2|2 0|2 2|0 2|2 0|2 0|2 2|2 2|0 2|2 2|2 0|2 2|0 2|2 0|2 0|2 0|0 2|2 2|0 2|0 0|2 0|0 2|0 2|0 2|0 2|0 2|2 2|2 0|0 2|0 2|2 2|2 2|2 2|0 1|2 0|2 0|0 2|2 0|0 2|2 0|0 0|2 2|2 2|0 0|0 1|2 2|2 0|0 2|2 0|2 2|2 0|2 2|0 2|2 2|0 2|2 2|0 2|2 2|0 1|2 2|0 0|0 2|0 2|0 2|0 0|0 2|0 2|2 2|0 2|0 1|2 0|0 0|2 +10 18825203 rs7098625 G T 100 PASS AC=12;AF=0.0642971;AN=214;NS=2504;DP=22691;EAS_AF=0.0744;AMR_AF=0.0807;AFR_AF=0.0643;EUR_AF=0.0616;SAS_AF=0.045;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0642971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7098625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0160;AF_popmax=0.0221;AF_male=0.0171;AF_female=0.0145;AF_raw=0.0210;AF_afr=0.0221;AF_sas=.;AF_amr=0.0185;AF_eas=0.0212;AF_nfe=0.0119;AF_fin=0.0083;AF_asj=0.025;AF_oth=0.0075;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0488704;Kaviar_AC=1272;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18825204 rs60959154 G T 100 PASS AC=12;AF=0.0642971;AN=214;NS=2504;DP=22517;EAS_AF=0.0744;AMR_AF=0.0807;AFR_AF=0.0643;EUR_AF=0.0616;SAS_AF=0.045;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0642971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60959154;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0489089;Kaviar_AC=1273;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18827336 rs186919216 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17149;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186919216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.602e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.872e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.492e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.492e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.04e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828191 rs143060134 C T 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=17451;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1356T:p.S452S,CACNB2:NM_001330060:exon13:c.C1242T:p.S414S,CACNB2:NM_201570:exon13:c.C1377T:p.S459S,CACNB2:NM_201590:exon13:c.C1359T:p.S453S,CACNB2:NM_001167945:exon14:c.C1323T:p.S441S,CACNB2:NM_201571:exon14:c.C1437T:p.S479S,CACNB2:NM_201572:exon14:c.C1365T:p.S455S,CACNB2:NM_201593:exon14:c.C1407T:p.S469S,CACNB2:NM_201596:exon14:c.C1521T:p.S507S,CACNB2:NM_201597:exon14:c.C1449T:p.S483S;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143060134;CLNALLELEID=240757;CLNDN=Brugada_syndrome_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.546;CADD_raw_rankscore=0.367;CADD_phred=19.76;DANN_score=0.795;DANN_rankscore=0.123;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.035;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.846;Eigen-PC-raw=-0.039;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-3.76;GERP++_RS_rankscore=0.041;phyloP100way_vertebrate=-0.383;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=0.125;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=1.833;SiPhy_29way_logOdds_rankscore=0.029;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0019;AF=0.0054;AF_popmax=0.0083;AF_male=0.0052;AF_female=0.0055;AF_raw=0.0054;AF_afr=0.0026;AF_sas=.;AF_amr=0.0012;AF_eas=0.0013;AF_nfe=0.0083;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0088;Kaviar_AF=0.0047994;Kaviar_AC=742;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.895652;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828230 rs150280879 T C 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18465;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1395C:p.P465P,CACNB2:NM_001330060:exon13:c.T1281C:p.P427P,CACNB2:NM_201570:exon13:c.T1416C:p.P472P,CACNB2:NM_201590:exon13:c.T1398C:p.P466P,CACNB2:NM_001167945:exon14:c.T1362C:p.P454P,CACNB2:NM_201571:exon14:c.T1476C:p.P492P,CACNB2:NM_201572:exon14:c.T1404C:p.P468P,CACNB2:NM_201593:exon14:c.T1446C:p.P482P,CACNB2:NM_201596:exon14:c.T1560C:p.P520P,CACNB2:NM_201597:exon14:c.T1488C:p.P496P;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150280879;CLNALLELEID=140350;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0016;AF_male=0.0007;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0010737;Kaviar_AC=166;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.006497;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828371 rs2228645 C T 100 PASS AC=26;AF=0.23722;AN=214;NS=2504;DP=19055;EAS_AF=0.2381;AMR_AF=0.3314;AFR_AF=0.1899;EUR_AF=0.161;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_001330060:exon13:c.C1422T:p.Y474Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y;1000g2015aug_all=0.23722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228645;CLNALLELEID=253717;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.2178;ExAC_nontcga_AFR=0.1986;ExAC_nontcga_AMR=0.4143;ExAC_nontcga_EAS=0.2380;ExAC_nontcga_FIN=0.1931;ExAC_nontcga_NFE=0.1573;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.2947;AF=0.1898;AF_popmax=0.3152;AF_male=0.1890;AF_female=0.1907;AF_raw=0.1901;AF_afr=0.1982;AF_sas=.;AF_amr=0.3152;AF_eas=0.2114;AF_nfe=0.1791;AF_fin=0.1794;AF_asj=0.1621;AF_oth=0.1863;non_topmed_AF_popmax=0.3201;non_neuro_AF_popmax=0.2982;non_cancer_AF_popmax=.;controls_AF_popmax=0.2886;Kaviar_AF=0.207184;Kaviar_AC=32031;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.755494;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828455 rs61733967 C T 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=19147;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0272;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1620T:p.H540H,CACNB2:NM_001330060:exon13:c.C1506T:p.H502H,CACNB2:NM_201570:exon13:c.C1641T:p.H547H,CACNB2:NM_201590:exon13:c.C1623T:p.H541H,CACNB2:NM_001167945:exon14:c.C1587T:p.H529H,CACNB2:NM_201571:exon14:c.C1701T:p.H567H,CACNB2:NM_201572:exon14:c.C1629T:p.H543H,CACNB2:NM_201593:exon14:c.C1671T:p.H557H,CACNB2:NM_201596:exon14:c.C1785T:p.H595H,CACNB2:NM_201597:exon14:c.C1713T:p.H571H;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61733967;CLNALLELEID=140351;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0278;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0077;AF_popmax=0.0271;AF_male=0.0080;AF_female=0.0073;AF_raw=0.0077;AF_afr=0.0271;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0293;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.214967;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828486 rs61733968 C G 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=17929;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1651G:p.R551G,CACNB2:NM_001330060:exon13:c.C1537G:p.R513G,CACNB2:NM_201570:exon13:c.C1672G:p.R558G,CACNB2:NM_201590:exon13:c.C1654G:p.R552G,CACNB2:NM_001167945:exon14:c.C1618G:p.R540G,CACNB2:NM_201571:exon14:c.C1732G:p.R578G,CACNB2:NM_201572:exon14:c.C1660G:p.R554G,CACNB2:NM_201593:exon14:c.C1702G:p.R568G,CACNB2:NM_201596:exon14:c.C1816G:p.R606G,CACNB2:NM_201597:exon14:c.C1744G:p.R582G;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61733968;CLNALLELEID=189319;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.253;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_rankscore=0.692;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.413;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_score_rankscore=0.656;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_converted_rankscore=0.828;FATHMM_pred=D;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.433;VEST3_rankscore=0.488;MetaSVM_score=0.105;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.473;MetaLR_rankscore=0.798;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.279;REVEL_rankscore=0.600;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.555;CADD_raw_rankscore=0.610;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.930;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.832;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.471;Eigen-PC-raw=0.540;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=5.051;phyloP100way_vertebrate_rankscore=0.638;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.978;phastCons20way_mammalian_rankscore=0.483;SiPhy_29way_logOdds=15.647;SiPhy_29way_logOdds_rankscore=0.767;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0170;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0018;AF=0.0100;AF_popmax=0.0162;AF_male=0.0108;AF_female=0.0089;AF_raw=0.0100;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0162;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0.0111;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0165;non_cancer_AF_popmax=.;controls_AF_popmax=0.0147;Kaviar_AF=0.0099028;Kaviar_AC=1531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.178975;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828561 rs200613235 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18527;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.A1726G:p.K576E,CACNB2:NM_001330060:exon13:c.A1612G:p.K538E,CACNB2:NM_201570:exon13:c.A1747G:p.K583E,CACNB2:NM_201590:exon13:c.A1729G:p.K577E,CACNB2:NM_001167945:exon14:c.A1693G:p.K565E,CACNB2:NM_201571:exon14:c.A1807G:p.K603E,CACNB2:NM_201572:exon14:c.A1735G:p.K579E,CACNB2:NM_201593:exon14:c.A1777G:p.K593E,CACNB2:NM_201596:exon14:c.A1891G:p.K631E,CACNB2:NM_201597:exon14:c.A1819G:p.K607E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200613235;CLNALLELEID=407845;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_converted_rankscore=0.260;LRT_pred=N;MutationTaster_score=0.604;MutationTaster_converted_rankscore=0.309;MutationTaster_pred=N;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-1.71;FATHMM_converted_rankscore=0.838;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.39;VEST3_rankscore=0.450;MetaSVM_score=0.185;MetaSVM_rankscore=0.857;MetaSVM_pred=D;MetaLR_score=0.512;MetaLR_rankscore=0.817;MetaLR_pred=D;M-CAP_score=0.053;M-CAP_rankscore=0.654;M-CAP_pred=D;REVEL_score=0.253;REVEL_rankscore=0.567;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.389;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.998;DANN_rankscore=0.874;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.616;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.086;Eigen-PC-raw=0.251;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=5.404;phyloP100way_vertebrate_rankscore=0.659;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.970;SiPhy_29way_logOdds_rankscore=0.797;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.446e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.848e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.355753;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828635 rs58225473 T G 100 PASS AC=53;AF=0.0970447;AN=214;NS=2504;DP=16792;EAS_AF=0;AMR_AF=0.1138;AFR_AF=0.0953;EUR_AF=0.1978;SAS_AF=0.0838;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1800G:p.D600E,CACNB2:NM_001330060:exon13:c.T1686G:p.D562E,CACNB2:NM_201570:exon13:c.T1821G:p.D607E,CACNB2:NM_201590:exon13:c.T1803G:p.D601E,CACNB2:NM_001167945:exon14:c.T1767G:p.D589E,CACNB2:NM_201571:exon14:c.T1881G:p.D627E,CACNB2:NM_201572:exon14:c.T1809G:p.D603E,CACNB2:NM_201593:exon14:c.T1851G:p.D617E,CACNB2:NM_201596:exon14:c.T1965G:p.D655E,CACNB2:NM_201597:exon14:c.T1893G:p.D631E;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58225473;CLNALLELEID=140352;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.460;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-1.84;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.192;VEST3_rankscore=0.235;MetaSVM_score=-0.989;MetaSVM_rankscore=0.328;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.791;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.992;DANN_rankscore=0.542;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.004;Eigen-PC-raw=0.050;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.046;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=2.76;GERP++_RS_rankscore=0.314;phyloP100way_vertebrate=1.314;phyloP100way_vertebrate_rankscore=0.330;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.057;SiPhy_29way_logOdds_rankscore=0.527;Interpro_domain=.;GTEx_V6p_gene=ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000225527.1|ENSG00000152487.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1729;ExAC_nontcga_ALL=0.1352;ExAC_nontcga_AFR=0.1096;ExAC_nontcga_AMR=0.0741;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.1935;ExAC_nontcga_NFE=0.1832;ExAC_nontcga_OTH=0.1546;ExAC_nontcga_SAS=0.0734;AF=0.1491;AF_popmax=0.1784;AF_male=0.1468;AF_female=0.1519;AF_raw=0.1498;AF_afr=0.1056;AF_sas=.;AF_amr=0.1149;AF_eas=0.0006;AF_nfe=0.1784;AF_fin=0.2036;AF_asj=0.1424;AF_oth=0.1629;non_topmed_AF_popmax=0.1758;non_neuro_AF_popmax=0.1779;non_cancer_AF_popmax=.;controls_AF_popmax=0.1701;Kaviar_AF=0.136467;Kaviar_AC=21098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.331345;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|1 +10 18828645 rs77141223 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16461;EAS_AF=0;AMR_AF=0;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1810T:p.R604C,CACNB2:NM_001330060:exon13:c.C1696T:p.R566C,CACNB2:NM_201570:exon13:c.C1831T:p.R611C,CACNB2:NM_201590:exon13:c.C1813T:p.R605C,CACNB2:NM_001167945:exon14:c.C1777T:p.R593C,CACNB2:NM_201571:exon14:c.C1891T:p.R631C,CACNB2:NM_201572:exon14:c.C1819T:p.R607C,CACNB2:NM_201593:exon14:c.C1861T:p.R621C,CACNB2:NM_201596:exon14:c.C1975T:p.R659C,CACNB2:NM_201597:exon14:c.C1903T:p.R635C;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77141223;CLNALLELEID=188492;CLNDN=Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.333;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.339;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=-1.89;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.31;PROVEAN_converted_rankscore=0.513;PROVEAN_pred=N;VEST3_score=0.668;VEST3_rankscore=0.678;MetaSVM_score=0.412;MetaSVM_rankscore=0.893;MetaSVM_pred=D;MetaLR_score=0.656;MetaLR_rankscore=0.880;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.701;M-CAP_pred=D;REVEL_score=0.638;REVEL_rankscore=0.864;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.542;CADD_raw_rankscore=0.901;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.975;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.763;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.535;Eigen-PC-raw=0.585;GenoCanyon_score=0.428;GenoCanyon_score_rankscore=0.203;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=5.456;phyloP100way_vertebrate_rankscore=0.662;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.874;SiPhy_29way_logOdds_rankscore=0.923;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=8.951e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.749e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0032;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0032;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.267915;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828663 rs4747352 G T 100 PASS AC=173;AF=0.774361;AN=214;NS=2504;DP=17596;EAS_AF=0.9613;AMR_AF=0.7752;AFR_AF=0.612;EUR_AF=0.7903;SAS_AF=0.7843;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*10G>T\x3bNM_201593:c.*10G>T\x3bNM_201596:c.*10G>T\x3bNM_001167945:c.*10G>T\x3bNM_201571:c.*10G>T\x3bNM_201572:c.*10G>T\x3bNM_001330060:c.*10G>T\x3bNM_000724:c.*10G>T\x3bNM_201590:c.*10G>T\x3bNM_201570:c.*10G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.774361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4747352;CLNALLELEID=212763;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7888;ExAC_nontcga_AFR=0.6708;ExAC_nontcga_AMR=0.7680;ExAC_nontcga_EAS=0.9723;ExAC_nontcga_FIN=0.7810;ExAC_nontcga_NFE=0.7884;ExAC_nontcga_OTH=0.7953;ExAC_nontcga_SAS=0.7738;AF=0.7619;AF_popmax=0.9722;AF_male=0.7631;AF_female=0.7603;AF_raw=0.7581;AF_afr=0.6684;AF_sas=.;AF_amr=0.7556;AF_eas=0.9722;AF_nfe=0.7944;AF_fin=0.7512;AF_asj=0.7234;AF_oth=0.7734;non_topmed_AF_popmax=0.9721;non_neuro_AF_popmax=0.9722;non_cancer_AF_popmax=.;controls_AF_popmax=0.9635;Kaviar_AF=0.706356;Kaviar_AC=109204;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.244898::0.358742;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END GT 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 +10 18828670 rs58830289 T C 100 PASS AC=47;AF=0.0756789;AN=214;NS=2504;DP=17609;EAS_AF=0;AMR_AF=0.1009;AFR_AF=0.0303;EUR_AF=0.1869;SAS_AF=0.0828;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17T>C\x3bNM_201593:c.*17T>C\x3bNM_201596:c.*17T>C\x3bNM_001167945:c.*17T>C\x3bNM_201571:c.*17T>C\x3bNM_201572:c.*17T>C\x3bNM_001330060:c.*17T>C\x3bNM_000724:c.*17T>C\x3bNM_201590:c.*17T>C\x3bNM_201570:c.*17T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58830289;CLNALLELEID=321059;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2565;ExAC_nontcga_AFR=0.1865;ExAC_nontcga_AMR=0.1974;ExAC_nontcga_EAS=0.0417;ExAC_nontcga_FIN=0.1985;ExAC_nontcga_NFE=0.2703;ExAC_nontcga_OTH=0.2391;ExAC_nontcga_SAS=0.2688;AF=0.1525;AF_popmax=0.1966;AF_male=0.1501;AF_female=0.1556;AF_raw=0.1110;AF_afr=0.0681;AF_sas=.;AF_amr=0.1290;AF_eas=0;AF_nfe=0.1966;AF_fin=0.2420;AF_asj=0.1667;AF_oth=0.1957;non_topmed_AF_popmax=0.1979;non_neuro_AF_popmax=0.1959;non_cancer_AF_popmax=.;controls_AF_popmax=0.1993;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 0|1 +10 21074724 rs2296614 T C 100 PASS AC=12;AF=0.0666933;AN=214;NS=2504;DP=19591;EAS_AF=0;AMR_AF=0.1052;AFR_AF=0.121;EUR_AF=0.0527;SAS_AF=0.0491;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296614;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0762;ExAC_nontcga_ALL=0.0787;ExAC_nontcga_AFR=0.1216;ExAC_nontcga_AMR=0.1645;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0569;ExAC_nontcga_NFE=0.0738;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0584;AF=0.0832;AF_popmax=0.1403;AF_male=0.0851;AF_female=0.0807;AF_raw=0.0831;AF_afr=0.1157;AF_sas=.;AF_amr=0.1403;AF_eas=0;AF_nfe=0.0777;AF_fin=0.0501;AF_asj=0.0897;AF_oth=0.0781;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.000609;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296614;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0762;ExAC_nontcga_ALL=0.0787;ExAC_nontcga_AFR=0.1216;ExAC_nontcga_AMR=0.1645;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0569;ExAC_nontcga_NFE=0.0738;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0584;AF=0.0832;AF_popmax=0.1403;AF_male=0.0851;AF_female=0.0807;AF_raw=0.0831;AF_afr=0.1157;AF_sas=.;AF_amr=0.1403;AF_eas=0;AF_nfe=0.0777;AF_fin=0.0501;AF_asj=0.0897;AF_oth=0.0781;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.000609;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 21076080 rs528583035 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22232;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528583035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.4e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.936e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076100 rs2296606 C A 100 PASS AC=12;AF=0.221845;AN=214;NS=2504;DP=21954;EAS_AF=0.2222;AMR_AF=0.1268;AFR_AF=0.4902;EUR_AF=0.0288;SAS_AF=0.1247;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0238;ExAC_nontcga_ALL=0.1213;ExAC_nontcga_AFR=0.4320;ExAC_nontcga_AMR=0.1480;ExAC_nontcga_EAS=0.2638;ExAC_nontcga_FIN=0.0299;ExAC_nontcga_NFE=0.0314;ExAC_nontcga_OTH=0.0966;ExAC_nontcga_SAS=0.1285;AF=0.1383;AF_popmax=0.4002;AF_male=0.1452;AF_female=0.1296;AF_raw=0.1387;AF_afr=0.4002;AF_sas=.;AF_amr=0.1050;AF_eas=0.2197;AF_nfe=0.0173;AF_fin=0.0256;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.4004;non_neuro_AF_popmax=0.4057;non_cancer_AF_popmax=.;controls_AF_popmax=0.4064;Kaviar_AF=0.0824698;Kaviar_AC=12750;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076285 rs2697027 C G 100 PASS AC=22;AF=0.0251597;AN=214;NS=2504;DP=19811;EAS_AF=0;AMR_AF=0.0375;AFR_AF=0.0038;EUR_AF=0.0815;SAS_AF=0.0133;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0251597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2697027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0705;ExAC_nontcga_ALL=0.0482;ExAC_nontcga_AFR=0.0150;ExAC_nontcga_AMR=0.0337;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0231;ExAC_nontcga_NFE=0.0774;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0213;AF=0.0407;AF_popmax=0.0662;AF_male=0.0423;AF_female=0.0387;AF_raw=0.0407;AF_afr=0.0129;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0662;AF_fin=0.0187;AF_asj=0.0517;AF_oth=0.0358;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0667;non_cancer_AF_popmax=.;controls_AF_popmax=0.0442;Kaviar_AF=0.0441197;Kaviar_AC=6821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076307 rs2296607 C T 100 PASS AC=64;AF=0.299521;AN=214;NS=2504;DP=20781;EAS_AF=0.4544;AMR_AF=0.2147;AFR_AF=0.0862;EUR_AF=0.3191;SAS_AF=0.4683;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2770;AF_popmax=0.4303;AF_male=0.2776;AF_female=0.2761;AF_raw=0.2771;AF_afr=0.1247;AF_sas=.;AF_amr=0.2583;AF_eas=0.4303;AF_nfe=0.3433;AF_fin=0.2703;AF_asj=0.4310;AF_oth=0.3330;non_topmed_AF_popmax=0.4332;non_neuro_AF_popmax=0.4303;non_cancer_AF_popmax=.;controls_AF_popmax=0.4278;Kaviar_AF=0.0658012;Kaviar_AC=10173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21097556 rs151012132 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16466;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon26:c.C2644T:p.R882X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151012132;CLNALLELEID=198241;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.096;LRT_converted_rankscore=0.201;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=14.964;CADD_raw_rankscore=0.998;CADD_phred=48;DANN_score=0.998;DANN_rankscore=0.901;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.780;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.971;Eigen-PC-raw=0.854;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=7.418;phyloP100way_vertebrate_rankscore=0.792;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.813;phastCons20way_mammalian_rankscore=0.340;SiPhy_29way_logOdds=20.186;SiPhy_29way_logOdds_rankscore=0.982;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.83e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.48e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.303046;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21098878 rs372054285 G A 100 PASS AC=17;AF=0.0834665;AN=214;NS=2504;DP=16485;EAS_AF=0.1448;AMR_AF=0.0749;AFR_AF=0.0363;EUR_AF=0.0915;SAS_AF=0.0818;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0834665;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372054285;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0151;ExAC_nontcga_AMR=0.0486;ExAC_nontcga_EAS=0.0281;ExAC_nontcga_FIN=0.0210;ExAC_nontcga_NFE=0.0167;ExAC_nontcga_OTH=0.0256;ExAC_nontcga_SAS=0.0164;AF=0.0014;AF_popmax=0.0015;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0025;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0086;AF_asj=0;AF_oth=0.0058;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0027425;Kaviar_AC=424;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 21098879 rs200612536 G A 100 PASS AC=43;AF=0.226637;AN=214;NS=2504;DP=16111;EAS_AF=0.3244;AMR_AF=0.1859;AFR_AF=0.1467;EUR_AF=0.2217;SAS_AF=0.2679;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.226637;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200612536;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0073867;Kaviar_AC=1142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 +10 21101734 rs143930021 T C 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=15817;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_001173484:exon5:c.A493G:p.I165V,NEBL:NM_213569:exon5:c.A493G:p.I165V,NEBL:NM_006393:exon24:c.A2482G:p.I828V;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143930021;CLNALLELEID=54660;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.253;MutationTaster_pred=N;MutationAssessor_score=-0.75;MutationAssessor_score_rankscore=0.017;MutationAssessor_pred=N;FATHMM_score=3.73;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=0.61;PROVEAN_converted_rankscore=0.046;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.065;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.051;M-CAP_pred=T;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.155;CADD_raw_rankscore=0.080;CADD_phred=1.358;DANN_score=0.764;DANN_rankscore=0.111;fathmm-MKL_coding_score=0.491;fathmm-MKL_coding_rankscore=0.281;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.759;Eigen-PC-raw=-0.541;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.071;integrated_fitCons_score=0.537;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=2.2;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=2.318;phyloP100way_vertebrate_rankscore=0.432;phyloP20way_mammalian=-0.342;phyloP20way_mammalian_rankscore=0.072;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=7.684;SiPhy_29way_logOdds_rankscore=0.275;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0022;AF_male=0.0015;AF_female=0.0010;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001119;Kaviar_AC=173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.894752;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +10 21104492 rs561378272 C T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=17457;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561378272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21104694 rs4748727 A T 100 PASS AC=90;AF=0.558906;AN=214;NS=2504;DP=17923;EAS_AF=0.6369;AMR_AF=0.3602;AFR_AF=0.7194;EUR_AF=0.3827;SAS_AF=0.5838;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558906;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748727;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3794;ExAC_nontcga_ALL=0.4485;ExAC_nontcga_AFR=0.6732;ExAC_nontcga_AMR=0.3761;ExAC_nontcga_EAS=0.6572;ExAC_nontcga_FIN=0.2854;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.4213;ExAC_nontcga_SAS=0.5646;AF=0.4616;AF_popmax=0.6794;AF_male=0.4710;AF_female=0.4497;AF_raw=0.4613;AF_afr=0.6794;AF_sas=.;AF_amr=0.3924;AF_eas=0.6587;AF_nfe=0.3636;AF_fin=0.2939;AF_asj=0.5483;AF_oth=0.3939;non_topmed_AF_popmax=0.6802;non_neuro_AF_popmax=0.6797;non_cancer_AF_popmax=.;controls_AF_popmax=0.6802;Kaviar_AF=0.432724;Kaviar_AC=66900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 +10 21108377 rs1006363 C T 100 PASS AC=57;AF=0.183706;AN=214;NS=2504;DP=17787;EAS_AF=0.252;AMR_AF=0.219;AFR_AF=0.0204;EUR_AF=0.2992;SAS_AF=0.1902;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon20:c.G2031A:p.R677R;1000g2015aug_all=0.183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1006363;CLNALLELEID=54655;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2952;ExAC_nontcga_ALL=0.2460;ExAC_nontcga_AFR=0.0622;ExAC_nontcga_AMR=0.1575;ExAC_nontcga_EAS=0.2333;ExAC_nontcga_FIN=0.3812;ExAC_nontcga_NFE=0.2985;ExAC_nontcga_OTH=0.2637;ExAC_nontcga_SAS=0.1848;AF=0.2387;AF_popmax=0.3082;AF_male=0.2306;AF_female=0.2488;AF_raw=0.2387;AF_afr=0.0626;AF_sas=.;AF_amr=0.1792;AF_eas=0.2210;AF_nfe=0.3082;AF_fin=0.3921;AF_asj=0.1690;AF_oth=0.2644;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3080;non_cancer_AF_popmax=.;controls_AF_popmax=0.3216;Kaviar_AF=0.237397;Kaviar_AC=36702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.290753;ALLELE_END GT 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 +10 21112068 rs41277366 G T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18391;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0034;AF_popmax=0.0055;AF_male=0.0034;AF_female=0.0034;AF_raw=0.0034;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0058;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21112111 rs11012353 A T 100 PASS AC=55;AF=0.302117;AN=214;NS=2504;DP=17272;EAS_AF=0.4613;AMR_AF=0.2219;AFR_AF=0.18;EUR_AF=0.2644;SAS_AF=0.3988;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302117;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11012353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2187;ExAC_nontcga_ALL=0.3238;ExAC_nontcga_AFR=0.2163;ExAC_nontcga_AMR=0.2641;ExAC_nontcga_EAS=0.5263;ExAC_nontcga_FIN=0.2365;ExAC_nontcga_NFE=0.3138;ExAC_nontcga_OTH=0.2827;ExAC_nontcga_SAS=0.3920;AF=0.2575;AF_popmax=0.5084;AF_male=0.2595;AF_female=0.2549;AF_raw=0.2581;AF_afr=0.1966;AF_sas=.;AF_amr=0.2488;AF_eas=0.5084;AF_nfe=0.2739;AF_fin=0.2173;AF_asj=0.3414;AF_oth=0.2662;non_topmed_AF_popmax=0.5126;non_neuro_AF_popmax=0.5084;non_cancer_AF_popmax=.;controls_AF_popmax=0.5088;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21112137 rs4748728 A T 100 PASS AC=11;AF=0.124601;AN=214;NS=2504;DP=17379;EAS_AF=0.122;AMR_AF=0.0692;AFR_AF=0.2337;EUR_AF=0.0288;SAS_AF=0.1176;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon19:c.T1962A:p.N654K;1000g2015aug_all=0.124601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748728;CLNALLELEID=54654;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_rankscore=0.189;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_converted_rankscore=0.280;LRT_pred=N;MutationTaster_score=0.070;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.715;MutationAssessor_score_rankscore=0.797;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.07;VEST3_rankscore=0.058;MetaSVM_score=-1.054;MetaSVM_rankscore=0.133;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.904;CADD_raw_rankscore=0.410;CADD_phred=21.9;DANN_score=0.993;DANN_rankscore=0.593;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.623;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.009;Eigen-PC-raw=0.128;GenoCanyon_score=0.012;GenoCanyon_score_rankscore=0.123;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.84;GERP++_RS_rankscore=0.620;phyloP100way_vertebrate=0.915;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.031;SiPhy_29way_logOdds_rankscore=0.352;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.6236;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0224;ExAC_nontcga_ALL=0.0630;ExAC_nontcga_AFR=0.2041;ExAC_nontcga_AMR=0.0718;ExAC_nontcga_EAS=0.1247;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0235;ExAC_nontcga_OTH=0.0543;ExAC_nontcga_SAS=0.0939;AF=0.0724;AF_popmax=0.1884;AF_male=0.0765;AF_female=0.0671;AF_raw=0.0725;AF_afr=0.1884;AF_sas=.;AF_amr=0.0625;AF_eas=0.0991;AF_nfe=0.0183;AF_fin=0.0279;AF_asj=0.0139;AF_oth=0.0387;non_topmed_AF_popmax=0.1877;non_neuro_AF_popmax=0.1842;non_cancer_AF_popmax=.;controls_AF_popmax=0.1871;Kaviar_AF=0.0565517;Kaviar_AC=8743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21112258 rs145229370 A C 100 PASS AC=1;AF=0.00459265;AN=214;NS=2504;DP=15206;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0151;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145229370;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.066e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0062;AF_male=0.0015;AF_female=0.0021;AF_raw=0.0018;AF_afr=0.0062;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21115332 rs1409348 T C 100 PASS AC=91;AF=0.558307;AN=214;NS=2504;DP=16413;EAS_AF=0.6438;AMR_AF=0.366;AFR_AF=0.6936;EUR_AF=0.3867;SAS_AF=0.6002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558307;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1409348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3815;ExAC_nontcga_ALL=0.4505;ExAC_nontcga_AFR=0.6405;ExAC_nontcga_AMR=0.3803;ExAC_nontcga_EAS=0.6668;ExAC_nontcga_FIN=0.2853;ExAC_nontcga_NFE=0.3832;ExAC_nontcga_OTH=0.4280;ExAC_nontcga_SAS=0.5803;AF=0.4529;AF_popmax=0.6667;AF_male=0.4619;AF_female=0.4415;AF_raw=0.4530;AF_afr=0.6420;AF_sas=.;AF_amr=0.3957;AF_eas=0.6667;AF_nfe=0.3660;AF_fin=0.2942;AF_asj=0.5414;AF_oth=0.3959;non_topmed_AF_popmax=0.6675;non_neuro_AF_popmax=0.6667;non_cancer_AF_popmax=.;controls_AF_popmax=0.6582;Kaviar_AF=0.437006;Kaviar_AC=67562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 +10 21115347 rs71578946 A G 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16005;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0112;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71578946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0108;AF=0.0080;AF_popmax=0.0095;AF_male=0.0084;AF_female=0.0075;AF_raw=0.0080;AF_afr=0.0024;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0161;AF_asj=0.0241;AF_oth=0.0138;non_topmed_AF_popmax=0.0084;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21115491 rs192163861 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16259;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192163861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.753e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.86e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=6.378e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21117573 rs538010888 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17195;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538010888;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21120116 rs10491056 A G 100 PASS AC=74;AF=0.46905;AN=214;NS=2504;DP=18304;EAS_AF=0.5278;AMR_AF=0.2911;AFR_AF=0.6354;EUR_AF=0.3489;SAS_AF=0.4335;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.46905;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10491056;CLNALLELEID=54650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3458;ExAC_nontcga_ALL=0.3876;ExAC_nontcga_AFR=0.6071;ExAC_nontcga_AMR=0.3070;ExAC_nontcga_EAS=0.5513;ExAC_nontcga_FIN=0.2668;ExAC_nontcga_NFE=0.3456;ExAC_nontcga_OTH=0.3559;ExAC_nontcga_SAS=0.4319;AF=0.4201;AF_popmax=0.6114;AF_male=0.4273;AF_female=0.4110;AF_raw=0.4200;AF_afr=0.6114;AF_sas=.;AF_amr=0.3305;AF_eas=0.5727;AF_nfe=0.3386;AF_fin=0.2741;AF_asj=0.4759;AF_oth=0.3490;non_topmed_AF_popmax=0.6115;non_neuro_AF_popmax=0.6155;non_cancer_AF_popmax=.;controls_AF_popmax=0.6101;Kaviar_AF=0.379342;Kaviar_AC=58647;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485482|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 0|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 0|0 1|1 +10 21129588 rs41277368 T C 100 PASS AC=19;AF=0.0449281;AN=214;NS=2504;DP=17396;EAS_AF=0.0258;AMR_AF=0.0461;AFR_AF=0.0287;EUR_AF=0.0855;SAS_AF=0.044;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0662;AF_popmax=0.0742;AF_male=0.0673;AF_female=0.0648;AF_raw=0.0661;AF_afr=0.0601;AF_sas=.;AF_amr=0.0567;AF_eas=0.0284;AF_nfe=0.0742;AF_fin=0.0524;AF_asj=0.1944;AF_oth=0.0717;non_topmed_AF_popmax=0.0717;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0598;Kaviar_AF=0.0135833;Kaviar_AC=2100;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21134282 rs41277370 C G 100 PASS AC=19;AF=0.0385383;AN=214;NS=2504;DP=16267;EAS_AF=0.0268;AMR_AF=0.0461;AFR_AF=0.0053;EUR_AF=0.0835;SAS_AF=0.044;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon12:c.G1132C:p.D378H;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277370;CLNALLELEID=54641;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.912;Polyphen2_HDIV_rankscore=0.484;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_rankscore=0.621;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.362;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.9;MutationAssessor_score_rankscore=0.842;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_converted_rankscore=0.540;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_converted_rankscore=0.870;PROVEAN_pred=D;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=-0.908;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.128;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.220;REVEL_rankscore=0.520;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.403;CADD_raw_rankscore=0.732;CADD_phred=26.0;DANN_score=0.994;DANN_rankscore=0.627;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.405;Eigen-PC-raw=0.354;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.118;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.24;GERP++_RS_rankscore=0.493;phyloP100way_vertebrate=4.209;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.023;SiPhy_29way_logOdds_rankscore=0.352;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0828;ExAC_nontcga_ALL=0.0636;ExAC_nontcga_AFR=0.0178;ExAC_nontcga_AMR=0.0410;ExAC_nontcga_EAS=0.0177;ExAC_nontcga_FIN=0.0439;ExAC_nontcga_NFE=0.0824;ExAC_nontcga_OTH=0.0838;ExAC_nontcga_SAS=0.0705;AF=0.0550;AF_popmax=0.0742;AF_male=0.0557;AF_female=0.0543;AF_raw=0.0550;AF_afr=0.0212;AF_sas=.;AF_amr=0.0531;AF_eas=0.0288;AF_nfe=0.0742;AF_fin=0.0521;AF_asj=0.1931;AF_oth=0.0664;non_topmed_AF_popmax=0.0714;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0596;Kaviar_AF=0.0651544;Kaviar_AC=10073;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000273|hsa-miR-216a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.362963;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21139389 rs4025981 T C 100 PASS AC=19;AF=0.038738;AN=214;NS=2504;DP=19089;EAS_AF=0.0268;AMR_AF=0.0461;AFR_AF=0.0053;EUR_AF=0.0835;SAS_AF=0.045;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon11:c.A1051G:p.M351V;1000g2015aug_all=0.038738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4025981;CLNALLELEID=54638;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.091;SIFT_converted_rankscore=0.318;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_rankscore=0.163;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.26;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.306;VEST3_rankscore=0.366;MetaSVM_score=-0.988;MetaSVM_rankscore=0.332;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.004;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.032;CADD_raw_rankscore=0.193;CADD_phred=10.84;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_rankscore=0.343;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.170;Eigen-PC-raw=-0.061;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.078;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=1.850;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.113;phyloP20way_mammalian_rankscore=0.207;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=9.009;SiPhy_29way_logOdds_rankscore=0.351;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0834;ExAC_nontcga_ALL=0.0634;ExAC_nontcga_AFR=0.0169;ExAC_nontcga_AMR=0.0408;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0434;ExAC_nontcga_NFE=0.0826;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0703;AF=0.0553;AF_popmax=0.0741;AF_male=0.0560;AF_female=0.0544;AF_raw=0.0553;AF_afr=0.0217;AF_sas=.;AF_amr=0.0531;AF_eas=0.0289;AF_nfe=0.0741;AF_fin=0.0524;AF_asj=0.1931;AF_oth=0.0683;non_topmed_AF_popmax=0.0713;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0596;Kaviar_AF=0.0653226;Kaviar_AC=10099;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.175997;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21141398 rs41277372 G A 100 PASS AC=5;AF=0.0119808;AN=214;NS=2504;DP=15334;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0358;SAS_AF=0.0133;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0301;AF_popmax=0.0428;AF_male=0.0289;AF_female=0.0317;AF_raw=0.0301;AF_afr=0.0091;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0428;AF_fin=0.0415;AF_asj=0.0034;AF_oth=0.0312;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0429;non_cancer_AF_popmax=.;controls_AF_popmax=0.0354;Kaviar_AF=0.0073414;Kaviar_AC=1135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 21141429 rs371793018 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371793018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0007;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0006;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007374;Kaviar_AC=114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21141440 rs3831100 AG A 100 PASS AC=53;AF=0.252796;AN=214;NS=2504;DP=15176;EAS_AF=0.4296;AMR_AF=0.1427;AFR_AF=0.0953;EUR_AF=0.2565;SAS_AF=0.3579;AA=GGG|GGG|GG|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3831100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2555;ExAC_nontcga_ALL=0.2565;ExAC_nontcga_AFR=0.1306;ExAC_nontcga_AMR=0.1447;ExAC_nontcga_EAS=0.4671;ExAC_nontcga_FIN=0.2157;ExAC_nontcga_NFE=0.2538;ExAC_nontcga_OTH=0.2384;ExAC_nontcga_SAS=0.3291;AF=0.2234;AF_popmax=0.4709;AF_male=0.2268;AF_female=0.2192;AF_raw=0.2242;AF_afr=0.1233;AF_sas=.;AF_amr=0.1655;AF_eas=0.4709;AF_nfe=0.2585;AF_fin=0.2134;AF_asj=0.2308;AF_oth=0.2514;non_topmed_AF_popmax=0.4742;non_neuro_AF_popmax=0.4709;non_cancer_AF_popmax=.;controls_AF_popmax=0.4592;Kaviar_AF=0.210573;Kaviar_AC=32555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21141469 rs703089 T C 100 PASS AC=214;AF=0.952476;AN=214;NS=2504;DP=14034;EAS_AF=0.9117;AMR_AF=0.8357;AFR_AF=0.9811;EUR_AF=0.998;SAS_AF=0.9918;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.952476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703089;CLNALLELEID=54637;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9683;ExAC_nontcga_AFR=0.9807;ExAC_nontcga_AMR=0.7922;ExAC_nontcga_EAS=0.9170;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9885;ExAC_nontcga_SAS=0.9893;AF=0.9844;AF_popmax=0.9997;AF_male=0.9842;AF_female=0.9846;AF_raw=0.9843;AF_afr=0.9823;AF_sas=.;AF_amr=0.8298;AF_eas=0.8907;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9835;non_topmed_AF_popmax=0.9996;non_neuro_AF_popmax=0.9997;non_cancer_AF_popmax=.;controls_AF_popmax=0.9998;Kaviar_AF=0.927161;Kaviar_AC=143341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 21147144 rs2281883 G A 100 PASS AC=2;AF=0.0543131;AN=214;NS=2504;DP=19599;EAS_AF=0.1151;AMR_AF=0.0447;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.1166;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2281883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0549;ExAC_nontcga_EAS=0.1177;ExAC_nontcga_FIN=0.0145;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0933;AF=0.0118;AF_popmax=0.0899;AF_male=0.0120;AF_female=0.0116;AF_raw=0.0118;AF_afr=0.0028;AF_sas=.;AF_amr=0.0413;AF_eas=0.0899;AF_nfe=0.0063;AF_fin=0.0150;AF_asj=0;AF_oth=0.0211;non_topmed_AF_popmax=0.0888;non_neuro_AF_popmax=0.0899;non_cancer_AF_popmax=.;controls_AF_popmax=0.0862;Kaviar_AF=0.0286413;Kaviar_AC=4428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247684|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +10 21148584 rs4748729 C A 100 PASS AC=141;AF=0.502995;AN=214;NS=2504;DP=14159;EAS_AF=0.3909;AMR_AF=0.5994;AFR_AF=0.3737;EUR_AF=0.6511;SAS_AF=0.5726;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.502995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5686;AF_popmax=0.6575;AF_male=0.5603;AF_female=0.5791;AF_raw=0.5677;AF_afr=0.3862;AF_sas=.;AF_amr=0.5607;AF_eas=0.3230;AF_nfe=0.6575;AF_fin=0.7265;AF_asj=0.5414;AF_oth=0.6308;non_topmed_AF_popmax=0.6620;non_neuro_AF_popmax=0.6583;non_cancer_AF_popmax=.;controls_AF_popmax=0.6764;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247684|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|0 +10 21157673 rs137973321 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15149;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon7:c.G604A:p.G202R;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137973321;CLNALLELEID=54665;CLNDN=Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.461;SIFT_converted_rankscore=0.223;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.381;LRT_pred=N;MutationTaster_score=0.512;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.6;MutationAssessor_score_rankscore=0.409;MutationAssessor_pred=L;FATHMM_score=3.61;FATHMM_converted_rankscore=0.164;FATHMM_pred=T;PROVEAN_score=-0.48;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.578;VEST3_rankscore=0.706;MetaSVM_score=-1.042;MetaSVM_rankscore=0.166;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.108;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.231;M-CAP_pred=T;REVEL_score=0.188;REVEL_rankscore=0.469;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.566;CADD_raw_rankscore=0.370;CADD_phred=19.89;DANN_score=0.813;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.778;fathmm-MKL_coding_rankscore=0.380;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.292;Eigen-PC-raw=-0.084;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.095;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=1.589;phyloP100way_vertebrate_rankscore=0.360;phyloP20way_mammalian=0.866;phyloP20way_mammalian_rankscore=0.377;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=8.948;SiPhy_29way_logOdds_rankscore=0.347;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0017;AF_popmax=0.0022;AF_male=0.0013;AF_female=0.0021;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0015;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.084069;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21157763 rs554481624;rs569692534 CAA CA,C 100 PASS AC=159,17;AF=0.624002,0.102835;AN=214;NS=2504;DP=18937;EAS_AF=0.624,0.1101;AMR_AF=0.6441,0.0908;AFR_AF=0.5136,0.0613;EUR_AF=0.7336,0.1213;SAS_AF=0.6462,0.1411;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569692534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0348;AF_male=0.0134;AF_female=0.0121;AF_raw=0.0239;AF_afr=0.0030;AF_sas=.;AF_amr=0.0348;AF_eas=0.0033;AF_nfe=0.0097;AF_fin=0.0704;AF_asj=0.0208;AF_oth=0.0221;non_topmed_AF_popmax=0.0349;non_neuro_AF_popmax=0.0276;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|2 1|1 1|1 1|1 1|1 1|0 2|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|2 1|0 1|0 1|1 2|1 1|0 1|0 2|1 1|0 1|2 2|1 1|0 1|2 1|0 0|1 1|0 1|1 0|1 0|1 1|0 1|1 0|1 1|2 2|1 1|1 1|1 1|1 1|1 2|1 1|0 1|1 1|1 1|0 1|2 2|1 0|1 1|1 1|1 1|2 1|0 1|0 2|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|2 1|0 1|1 1|2 1|0 1|0 1|1 +10 21157774 rs201628197 AAAAT A 100 PASS AC=1;AF=0.0517173;AN=214;NS=2504;DP=16795;EAS_AF=0.0308;AMR_AF=0.0173;AFR_AF=0.1604;EUR_AF=0.003;SAS_AF=0.001;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0517173;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201628197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0442;AF_popmax=0.1518;AF_male=0.0457;AF_female=0.0422;AF_raw=0.0450;AF_afr=0.1518;AF_sas=.;AF_amr=0.0119;AF_eas=0.0264;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0035;AF_oth=0.0129;non_topmed_AF_popmax=0.1514;non_neuro_AF_popmax=0.1637;non_cancer_AF_popmax=.;controls_AF_popmax=0.1589;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21158728 rs71541562 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16714;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon6:c.G523A:p.A175T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71541562;CLNALLELEID=459936;CLNDN=Primary_dilated_cardiomyopathy;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.877;SIFT_converted_rankscore=0.026;SIFT_pred=T;Polyphen2_HDIV_score=0.057;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.154;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.407;LRT_pred=D;MutationTaster_score=0.932;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=3.63;FATHMM_converted_rankscore=0.149;FATHMM_pred=T;PROVEAN_score=1.13;PROVEAN_converted_rankscore=0.013;PROVEAN_pred=N;VEST3_score=0.386;VEST3_rankscore=0.446;MetaSVM_score=-1.052;MetaSVM_rankscore=0.139;MetaSVM_pred=T;MetaLR_score=0.034;MetaLR_rankscore=0.145;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.316;M-CAP_pred=T;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.228;CADD_raw_rankscore=0.213;CADD_phred=11.89;DANN_score=0.101;DANN_rankscore=0.001;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.654;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.311;Eigen-PC-raw=-0.165;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=5.752;phyloP100way_vertebrate_rankscore=0.682;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.025;phastCons20way_mammalian_rankscore=0.141;SiPhy_29way_logOdds=20.439;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.962e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.313243;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21176945 rs703100 G A 100 PASS AC=196;AF=0.886981;AN=214;NS=2504;DP=17152;EAS_AF=0.8819;AMR_AF=0.7781;AFR_AF=0.8805;EUR_AF=0.9155;SAS_AF=0.9489;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.886981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9031;AF_popmax=0.9243;AF_male=0.9012;AF_female=0.9055;AF_raw=0.9030;AF_afr=0.8730;AF_sas=.;AF_amr=0.7630;AF_eas=0.8646;AF_nfe=0.9243;AF_fin=0.9467;AF_asj=0.7517;AF_oth=0.9098;non_topmed_AF_popmax=0.9271;non_neuro_AF_popmax=0.9242;non_cancer_AF_popmax=.;controls_AF_popmax=0.9387;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000942099|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +10 21177128 rs147622517 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=15480;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon4:c.C267G:p.Y89X;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147622517;CLNALLELEID=174916;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=9.147;CADD_raw_rankscore=0.961;CADD_phred=35;DANN_score=0.994;DANN_rankscore=0.608;fathmm-MKL_coding_score=0.795;fathmm-MKL_coding_rankscore=0.391;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.240;Eigen-PC-raw=0.112;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.311;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.08;GERP++_RS_rankscore=0.467;phyloP100way_vertebrate=1.777;phyloP100way_vertebrate_rankscore=0.380;phyloP20way_mammalian=-0.232;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.313;SiPhy_29way_logOdds_rankscore=0.597;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0036;AF_male=0.0020;AF_female=0.0010;AF_raw=0.0015;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0013066;Kaviar_AC=202;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000942099|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.406572;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21177143 rs560140738;rs71578979 GA GAA,G 100 PASS AC=1,2;AF=0.0670927,0.0111821;AN=214;NS=2504;DP=17882;EAS_AF=0.0288,0;AMR_AF=0.0144,0.0029;AFR_AF=0.2201,0.0356;EUR_AF=0.003,0.004;SAS_AF=0.0031,0.0031;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71578979;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0329;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0020;AF=0.0151;AF_popmax=0.0442;AF_male=0.0145;AF_female=0.0159;AF_raw=0.0106;AF_afr=0.0442;AF_sas=.;AF_amr=0.0066;AF_eas=0.0007;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0045;non_topmed_AF_popmax=0.0445;non_neuro_AF_popmax=0.0481;non_cancer_AF_popmax=.;controls_AF_popmax=0.0452;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21177156 rs67288319 GA G 100 PASS AC=141;AF=0.540535;AN=214;NS=2504;DP=15248;EAS_AF=0.3998;AMR_AF=0.6167;AFR_AF=0.4992;EUR_AF=0.6511;SAS_AF=0.5736;AA=AAAAAAA|AAAAAAA|AAAAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540535;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67288319;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6444;ExAC_nontcga_ALL=0.6135;ExAC_nontcga_AFR=0.5028;ExAC_nontcga_AMR=0.5965;ExAC_nontcga_EAS=0.4172;ExAC_nontcga_FIN=0.7378;ExAC_nontcga_NFE=0.6557;ExAC_nontcga_OTH=0.6460;ExAC_nontcga_SAS=0.5807;AF=0.5955;AF_popmax=0.6548;AF_male=0.5876;AF_female=0.6056;AF_raw=0.5943;AF_afr=0.4875;AF_sas=.;AF_amr=0.5632;AF_eas=0.3398;AF_nfe=0.6548;AF_fin=0.7248;AF_asj=0.4862;AF_oth=0.6332;non_topmed_AF_popmax=0.6599;non_neuro_AF_popmax=0.6557;non_cancer_AF_popmax=.;controls_AF_popmax=0.6747;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|0 +10 21178948 rs74123535 A T 100 PASS AC=1;AF=0.0181709;AN=214;NS=2504;DP=20388;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0643;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74123535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0162;AF_popmax=0.0568;AF_male=0.0160;AF_female=0.0164;AF_raw=0.0163;AF_afr=0.0568;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0591;non_cancer_AF_popmax=.;controls_AF_popmax=0.0580;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21185821 rs788971 A C 100 PASS AC=214;AF=0.923522;AN=214;NS=2504;DP=14142;EAS_AF=0.9067;AMR_AF=0.8256;AFR_AF=0.8835;EUR_AF=0.996;SAS_AF=0.9898;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.923522;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs788971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9600;AF_popmax=0.9957;AF_male=0.9594;AF_female=0.9608;AF_raw=0.9599;AF_afr=0.9035;AF_sas=.;AF_amr=0.8208;AF_eas=0.8900;AF_nfe=0.9957;AF_fin=0.9994;AF_asj=1;AF_oth=0.9787;non_topmed_AF_popmax=0.9949;non_neuro_AF_popmax=0.9960;non_cancer_AF_popmax=.;controls_AF_popmax=0.9971;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 21185931 rs140734883 A G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17526;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon2:c.T109C:p.L37L;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140734883;CLNALLELEID=54639;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0133;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0026;AF=0.0023;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0028;AF_raw=0.0023;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0121;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0017788;Kaviar_AC=275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.387050;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21185974 rs199531054 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21309211 rs144925755 C T 100 PASS AC=5;AF=0.00539137;AN=214;NS=2504;DP=21144;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0229;SAS_AF=0.002;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144925755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0138;AF_popmax=0.0163;AF_male=0.0136;AF_female=0.0142;AF_raw=0.0138;AF_afr=0.0024;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0362;AF_asj=0.0310;AF_oth=0.0166;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 21461232 rs35856892 G A 100 PASS AC=30;AF=0.230232;AN=214;NS=2504;DP=19542;EAS_AF=0.3562;AMR_AF=0.1484;AFR_AF=0.1936;EUR_AF=0.168;SAS_AF=0.272;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35856892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1833;AF_popmax=0.3628;AF_male=0.1877;AF_female=0.1777;AF_raw=0.1836;AF_afr=0.1896;AF_sas=.;AF_amr=0.1333;AF_eas=0.3628;AF_nfe=0.1573;AF_fin=0.2103;AF_asj=0.2257;AF_oth=0.1866;non_topmed_AF_popmax=0.3620;non_neuro_AF_popmax=0.3628;non_cancer_AF_popmax=.;controls_AF_popmax=0.3501;Kaviar_AF=0.0331173;Kaviar_AC=5120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 +10 21461237 rs145969390 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145969390;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21461410 rs11413698 G GA 100 PASS AC=53;AF=0.353634;AN=214;NS=2504;DP=24336;EAS_AF=0.4881;AMR_AF=0.2147;AFR_AF=0.4304;EUR_AF=0.2406;SAS_AF=0.3262;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.353634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11413698;CLNALLELEID=174922;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2569;ExAC_nontcga_AFR=0.3239;ExAC_nontcga_AMR=0.1913;ExAC_nontcga_EAS=0.3876;ExAC_nontcga_FIN=0.2419;ExAC_nontcga_NFE=0.2169;ExAC_nontcga_OTH=0.2927;ExAC_nontcga_SAS=0.3241;AF=0.3048;AF_popmax=0.5269;AF_male=0.3082;AF_female=0.3005;AF_raw=0.2575;AF_afr=0.4091;AF_sas=.;AF_amr=0.2367;AF_eas=0.5269;AF_nfe=0.2050;AF_fin=0.3898;AF_asj=0.2913;AF_oth=0.2639;non_topmed_AF_popmax=0.5283;non_neuro_AF_popmax=0.5269;non_cancer_AF_popmax=.;controls_AF_popmax=0.5137;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.993913;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 +10 21462769 rs141707642 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=7578;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.005;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-7C>T\x3bNM_213569:c.-7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141707642;CLNALLELEID=57800;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0281;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0045;ExAC_nontcga_SAS=0.0237;AF=0.0097;AF_popmax=0.0267;AF_male=0.0100;AF_female=0.0093;AF_raw=0.0097;AF_afr=0.0267;AF_sas=.;AF_amr=0.0048;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0038;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0268;non_neuro_AF_popmax=0.0298;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0074902;Kaviar_AC=1158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485481|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.265883;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21462878 rs369040992 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=6559;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.005;SAS_AF=0.0368;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-116C>T\x3bNM_213569:c.-116C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369040992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0099;AF_popmax=0.0271;AF_male=0.0102;AF_female=0.0095;AF_raw=0.0098;AF_afr=0.0271;AF_sas=.;AF_amr=0.0051;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0037;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0273;non_neuro_AF_popmax=0.0303;non_cancer_AF_popmax=.;controls_AF_popmax=0.0294;Kaviar_AF=0.0009961;Kaviar_AC=154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485481|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 67726514 rs2105702 A C 100 PASS AC=56;AF=0.352636;AN=214;NS=2504;DP=18144;EAS_AF=0.3899;AMR_AF=0.4669;AFR_AF=0.3079;EUR_AF=0.2644;SAS_AF=0.3845;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2105702;CLNALLELEID=503660;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0057;dbscSNV_RF_SCORE=0.262;esp6500siv2_ea=0.3110;ExAC_nontcga_ALL=0.3479;ExAC_nontcga_AFR=0.3210;ExAC_nontcga_AMR=0.5110;ExAC_nontcga_EAS=0.4061;ExAC_nontcga_FIN=0.3695;ExAC_nontcga_NFE=0.3021;ExAC_nontcga_OTH=0.3107;ExAC_nontcga_SAS=0.3684;AF=0.3295;AF_popmax=0.4716;AF_male=0.3271;AF_female=0.3326;AF_raw=0.3296;AF_afr=0.3207;AF_sas=.;AF_amr=0.4716;AF_eas=0.4086;AF_nfe=0.3131;AF_fin=0.3675;AF_asj=0.2034;AF_oth=0.3210;non_topmed_AF_popmax=0.4777;non_neuro_AF_popmax=0.4291;non_cancer_AF_popmax=.;controls_AF_popmax=0.3952;Kaviar_AF=0.334142;Kaviar_AC=51659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 1|0 +10 67748412 rs188672725 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16624;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188672725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.768403;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68040240 rs10997034 G T 100 PASS AC=4;AF=0.0690895;AN=214;NS=2504;DP=17564;EAS_AF=0.0456;AMR_AF=0.0115;AFR_AF=0.1392;EUR_AF=0.0119;SAS_AF=0.0982;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.C1872A:p.V624V,CTNNA3:NM_013266:exon13:c.C1872A:p.V624V;1000g2015aug_all=0.0690895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997034;CLNALLELEID=397545;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified;CLNDISDB=MedGen:C3810138,OMIM:615616|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0391;ExAC_nontcga_AFR=0.1091;ExAC_nontcga_AMR=0.0105;ExAC_nontcga_EAS=0.0489;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0210;ExAC_nontcga_OTH=0.0318;ExAC_nontcga_SAS=0.0878;AF=0.0438;AF_popmax=0.1080;AF_male=0.0444;AF_female=0.0430;AF_raw=0.0438;AF_afr=0.1080;AF_sas=.;AF_amr=0.0236;AF_eas=0.0579;AF_nfe=0.0164;AF_fin=0.0060;AF_asj=0.0793;AF_oth=0.0239;non_topmed_AF_popmax=0.1079;non_neuro_AF_popmax=0.1132;non_cancer_AF_popmax=.;controls_AF_popmax=0.1128;Kaviar_AF=0.0360862;Kaviar_AC=5579;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.558760;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +10 68040325 rs4548513 C T 100 PASS AC=80;AF=0.485024;AN=214;NS=2504;DP=17605;EAS_AF=0.4187;AMR_AF=0.4121;AFR_AF=0.7269;EUR_AF=0.3748;SAS_AF=0.3916;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;1000g2015aug_all=0.485024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4548513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.421;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.095;MutationAssessor_score_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_converted_rankscore=0.361;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.935;MetaSVM_rankscore=0.434;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.030;REVEL_rankscore=0.073;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.202;CADD_raw_rankscore=0.113;CADD_phred=4.704;DANN_score=0.115;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.126;Eigen-PC-raw=-0.882;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=0.986;phyloP100way_vertebrate_rankscore=0.290;phyloP20way_mammalian=0.090;phyloP20way_mammalian_rankscore=0.195;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.295;phastCons20way_mammalian_rankscore=0.236;SiPhy_29way_logOdds=7.512;SiPhy_29way_logOdds_rankscore=0.266;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3621;ExAC_nontcga_ALL=0.4129;ExAC_nontcga_AFR=0.6803;ExAC_nontcga_AMR=0.4054;ExAC_nontcga_EAS=0.4347;ExAC_nontcga_FIN=0.4362;ExAC_nontcga_NFE=0.3745;ExAC_nontcga_OTH=0.3772;ExAC_nontcga_SAS=0.3790;AF=0.4818;AF_popmax=0.6832;AF_male=0.4813;AF_female=0.4824;AF_raw=0.4815;AF_afr=0.6832;AF_sas=.;AF_amr=0.4218;AF_eas=0.4567;AF_nfe=0.3875;AF_fin=0.4446;AF_asj=0.4310;AF_oth=0.4208;non_topmed_AF_popmax=0.6814;non_neuro_AF_popmax=0.6826;non_cancer_AF_popmax=.;controls_AF_popmax=0.6772;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.280767;ALLELE_END GT 0|1 0|1 0|0 1|0 1|0 1|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|1 +10 68139038 rs139378888 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon12:c.G1604A:p.R535H,CTNNA3:NM_013266:exon12:c.G1604A:p.R535H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139378888;CLNALLELEID=397546;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.35;MutationAssessor_score_rankscore=0.336;MutationAssessor_pred=L;FATHMM_score=1.19;FATHMM_converted_rankscore=0.376;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_converted_rankscore=0.540;PROVEAN_pred=N;VEST3_score=0.763;VEST3_rankscore=0.756;MetaSVM_score=-0.833;MetaSVM_rankscore=0.531;MetaSVM_pred=T;MetaLR_score=0.207;MetaLR_rankscore=0.566;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.375;M-CAP_pred=T;REVEL_score=0.207;REVEL_rankscore=0.500;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.955;CADD_raw_rankscore=0.532;CADD_phred=23.6;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.751;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.702;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=6.175;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=17.477;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.369e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.468039;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68139039 rs41274090 G A 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=18016;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0038;EUR_AF=0.006;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon12:c.C1603T:p.R535C,CTNNA3:NM_013266:exon12:c.C1603T:p.R535C;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274090;CLNALLELEID=240825;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.218;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.005;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=1.19;FATHMM_converted_rankscore=0.376;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.353;VEST3_rankscore=0.414;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.437;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.211;REVEL_rankscore=0.507;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.125;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.663;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.682;Eigen-PC-raw=0.656;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.311;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=4.753;phyloP100way_vertebrate_rankscore=0.616;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.984;phastCons20way_mammalian_rankscore=0.507;SiPhy_29way_logOdds=17.477;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0165;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0089;AF=0.0104;AF_popmax=0.0135;AF_male=0.0107;AF_female=0.0101;AF_raw=0.0104;AF_afr=0.0042;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0144;AF_asj=0.0621;AF_oth=0.0101;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0150;Kaviar_AF=0.0114552;Kaviar_AC=1771;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.468039;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68139142 rs12761828 G A 100 PASS AC=39;AF=0.0940495;AN=214;NS=2504;DP=17785;EAS_AF=0.0506;AMR_AF=0.1023;AFR_AF=0.0136;EUR_AF=0.1511;SAS_AF=0.183;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0940495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12761828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1845;ExAC_nontcga_ALL=0.1579;ExAC_nontcga_AFR=0.0325;ExAC_nontcga_AMR=0.1296;ExAC_nontcga_EAS=0.0765;ExAC_nontcga_FIN=0.1802;ExAC_nontcga_NFE=0.1771;ExAC_nontcga_OTH=0.2347;ExAC_nontcga_SAS=0.2083;AF=0.1304;AF_popmax=0.1746;AF_male=0.1289;AF_female=0.1324;AF_raw=0.1305;AF_afr=0.0379;AF_sas=.;AF_amr=0.1403;AF_eas=0.0615;AF_nfe=0.1746;AF_fin=0.1754;AF_asj=0.2724;AF_oth=0.1544;non_topmed_AF_popmax=0.1781;non_neuro_AF_popmax=0.1757;non_cancer_AF_popmax=.;controls_AF_popmax=0.1777;Kaviar_AF=0.15254;Kaviar_AC=23583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68381592 rs150747678 T C 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=16105;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150747678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0021;AF_popmax=0.0038;AF_male=0.0024;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0038;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0026002;Kaviar_AC=402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68381615 rs547658948 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16346;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547658948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68535233 rs201966934 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68979342 rs558216245 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17989;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558216245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68979343 rs4745933 C G 100 PASS AC=14;AF=0.187899;AN=214;NS=2504;DP=18026;EAS_AF=0.1448;AMR_AF=0.1167;AFR_AF=0.3964;EUR_AF=0.1074;SAS_AF=0.0838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.187899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4745933;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1072;ExAC_nontcga_ALL=0.1285;ExAC_nontcga_AFR=0.3518;ExAC_nontcga_AMR=0.0673;ExAC_nontcga_EAS=0.1405;ExAC_nontcga_FIN=0.1188;ExAC_nontcga_NFE=0.1136;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.0851;AF=0.1862;AF_popmax=0.3610;AF_male=0.1850;AF_female=0.1876;AF_raw=0.1866;AF_afr=0.3610;AF_sas=.;AF_amr=0.0896;AF_eas=0.1506;AF_nfe=0.1162;AF_fin=0.1249;AF_asj=0.0724;AF_oth=0.1347;non_topmed_AF_popmax=0.3609;non_neuro_AF_popmax=0.3557;non_cancer_AF_popmax=.;controls_AF_popmax=0.3523;Kaviar_AF=0.12496;Kaviar_AC=19319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 68979636 rs141983252 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17519;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141983252;CLNALLELEID=240827;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0035;AF_male=0.0012;AF_female=0.0018;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015071;Kaviar_AC=233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.575495;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281585 rs10997691 A C 100 PASS AC=18;AF=0.187101;AN=214;NS=2504;DP=20396;EAS_AF=0.2996;AMR_AF=0.1513;AFR_AF=0.0809;EUR_AF=0.1243;SAS_AF=0.3047;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.187101;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1113;ExAC_nontcga_ALL=0.1702;ExAC_nontcga_AFR=0.0865;ExAC_nontcga_AMR=0.1815;ExAC_nontcga_EAS=0.2931;ExAC_nontcga_FIN=0.2297;ExAC_nontcga_NFE=0.1131;ExAC_nontcga_OTH=0.1802;ExAC_nontcga_SAS=0.3173;AF=0.1423;AF_popmax=0.3108;AF_male=0.1415;AF_female=0.1433;AF_raw=0.1422;AF_afr=0.0889;AF_sas=.;AF_amr=0.1851;AF_eas=0.3108;AF_nfe=0.1358;AF_fin=0.2163;AF_asj=0.1207;AF_oth=0.1562;non_topmed_AF_popmax=0.3133;non_neuro_AF_popmax=0.3108;non_cancer_AF_popmax=.;controls_AF_popmax=0.3092;Kaviar_AF=0.156149;Kaviar_AC=24141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.330022;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281701 rs61749223 A T 100 PASS AC=7;AF=0.0113818;AN=214;NS=2504;DP=19674;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0229;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon5:c.T478A:p.S160T,CTNNA3:NM_013266:exon5:c.T478A:p.S160T,CTNNA3:NM_001291133:exon6:c.T514A:p.S172T;1000g2015aug_all=0.0113818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61749223;CLNALLELEID=240829;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.571;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_converted_rankscore=0.348;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_converted_rankscore=0.291;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.154;VEST3_rankscore=0.254;MetaSVM_score=-1.040;MetaSVM_rankscore=0.172;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.156;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.133;REVEL_rankscore=0.367;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.461;CADD_raw_rankscore=0.357;CADD_phred=19.22;DANN_score=0.957;DANN_rankscore=0.271;fathmm-MKL_coding_score=0.714;fathmm-MKL_coding_rankscore=0.347;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.182;Eigen-PC-raw=0.283;GenoCanyon_score=0.085;GenoCanyon_score_rankscore=0.160;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=4.087;phyloP100way_vertebrate_rankscore=0.572;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=11.439;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0253;ExAC_nontcga_ALL=0.0231;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0164;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0364;AF=0.0195;AF_popmax=0.0262;AF_male=0.0207;AF_female=0.0180;AF_raw=0.0196;AF_afr=0.0052;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0262;AF_fin=0.0331;AF_asj=0.0276;AF_oth=0.0239;non_topmed_AF_popmax=0.0265;non_neuro_AF_popmax=0.0262;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0220114;Kaviar_AC=3403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.260389;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281732 rs7903421 A G 100 PASS AC=15;AF=0.0593051;AN=214;NS=2504;DP=19138;EAS_AF=0.006;AMR_AF=0.0447;AFR_AF=0.0703;EUR_AF=0.0487;SAS_AF=0.1207;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0593051;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7903421;CLNALLELEID=503661;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0592;ExAC_nontcga_ALL=0.0607;ExAC_nontcga_AFR=0.0662;ExAC_nontcga_AMR=0.0389;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0397;ExAC_nontcga_NFE=0.0530;ExAC_nontcga_OTH=0.0714;ExAC_nontcga_SAS=0.1368;AF=0.0508;AF_popmax=0.0612;AF_male=0.0519;AF_female=0.0493;AF_raw=0.0508;AF_afr=0.0612;AF_sas=.;AF_amr=0.0401;AF_eas=0.0038;AF_nfe=0.0525;AF_fin=0.0414;AF_asj=0.0483;AF_oth=0.0478;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0588;non_cancer_AF_popmax=.;controls_AF_popmax=0.0587;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.891749;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69299192 rs11815032 C T 100 PASS AC=5;AF=0.0179712;AN=214;NS=2504;DP=17021;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0547;SAS_AF=0.0153;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11815032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0427;AF_popmax=0.0640;AF_male=0.0407;AF_female=0.0454;AF_raw=0.0428;AF_afr=0.0092;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0640;AF_fin=0.0573;AF_asj=0.0345;AF_oth=0.0551;non_topmed_AF_popmax=0.0681;non_neuro_AF_popmax=0.0640;non_cancer_AF_popmax=.;controls_AF_popmax=0.0810;Kaviar_AF=0.0082017;Kaviar_AC=1268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69299372 rs61749224 T G 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=18191;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0053;EUR_AF=0.0129;SAS_AF=0.047;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon4:c.A348C:p.P116P,CTNNA3:NM_013266:exon4:c.A348C:p.P116P,CTNNA3:NM_001291133:exon5:c.A384C:p.P128P;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61749224;CLNALLELEID=221985;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0172;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0118;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0367;AF=0.0123;AF_popmax=0.0170;AF_male=0.0114;AF_female=0.0133;AF_raw=0.0123;AF_afr=0.0094;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0170;AF_fin=0.0035;AF_asj=0.0207;AF_oth=0.0110;non_topmed_AF_popmax=0.0156;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0173154;Kaviar_AC=2677;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.183406;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69299446 rs1909654 T A 100 PASS AC=24;AF=0.195487;AN=214;NS=2504;DP=18420;EAS_AF=0.006;AMR_AF=0.0937;AFR_AF=0.5015;EUR_AF=0.0974;SAS_AF=0.1503;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1909654;CLNALLELEID=503373;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1024;ExAC_nontcga_ALL=0.1332;ExAC_nontcga_AFR=0.4681;ExAC_nontcga_AMR=0.0661;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0911;ExAC_nontcga_NFE=0.1056;ExAC_nontcga_OTH=0.1228;ExAC_nontcga_SAS=0.1671;AF=0.1954;AF_popmax=0.4705;AF_male=0.1969;AF_female=0.1934;AF_raw=0.1956;AF_afr=0.4705;AF_sas=.;AF_amr=0.0920;AF_eas=0.0038;AF_nfe=0.0957;AF_fin=0.0930;AF_asj=0.0729;AF_oth=0.1255;non_topmed_AF_popmax=0.4699;non_neuro_AF_popmax=0.4653;non_cancer_AF_popmax=.;controls_AF_popmax=0.4672;Kaviar_AF=0.128957;Kaviar_AC=19937;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.936138;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +10 69366602 rs3750863 T C 100 PASS AC=58;AF=0.529952;AN=214;NS=2504;DP=19010;EAS_AF=0.5149;AMR_AF=0.3818;AFR_AF=0.888;EUR_AF=0.2942;SAS_AF=0.409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750863;CLNALLELEID=502840;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2893;ExAC_nontcga_ALL=0.3865;ExAC_nontcga_AFR=0.8064;ExAC_nontcga_AMR=0.3844;ExAC_nontcga_EAS=0.5388;ExAC_nontcga_FIN=0.3173;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.3798;ExAC_nontcga_SAS=0.4286;AF=0.4511;AF_popmax=0.8115;AF_male=0.4574;AF_female=0.4432;AF_raw=0.4513;AF_afr=0.8115;AF_sas=.;AF_amr=0.3632;AF_eas=0.5129;AF_nfe=0.2882;AF_fin=0.3117;AF_asj=0.2812;AF_oth=0.3465;non_topmed_AF_popmax=0.8114;non_neuro_AF_popmax=0.8026;non_cancer_AF_popmax=.;controls_AF_popmax=0.8012;Kaviar_AF=0.367052;Kaviar_AC=56747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.839083;ALLELE_END GT 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 +10 69407239 rs61735044 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13604;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon2:c.C33T:p.I11I,CTNNA3:NM_013266:exon2:c.C33T:p.I11I,CTNNA3:NM_001291133:exon3:c.C69T:p.I23I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735044;CLNALLELEID=240832;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0012;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0009;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248734;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69407254 rs138580439 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13936;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon2:c.A18T:p.P6P,CTNNA3:NM_013266:exon2:c.A18T:p.P6P,CTNNA3:NM_001291133:exon3:c.A54T:p.P18P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138580439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=6.482e-05;AF_male=5.723e-05;AF_female=7.182e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.482270;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69882040 rs146336815 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18758;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon2:c.A845G:p.E282G,MYPN:NM_001256267:exon3:c.A845G:p.E282G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146336815;CLNALLELEID=198262;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.92;MutationAssessor_score_rankscore=0.846;MutationAssessor_pred=M;FATHMM_score=-0.49;FATHMM_converted_rankscore=0.704;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.872;PROVEAN_pred=D;VEST3_score=0.902;VEST3_rankscore=0.900;MetaSVM_score=0.576;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.658;MetaLR_rankscore=0.881;MetaLR_pred=D;M-CAP_score=0.186;M-CAP_rankscore=0.859;M-CAP_pred=D;REVEL_score=0.784;REVEL_rankscore=0.929;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.735;CADD_raw_rankscore=0.783;CADD_phred=26.9;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.592;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.883;Eigen-PC-raw=0.820;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=6.712;phyloP100way_vertebrate_rankscore=0.743;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.105;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.776413;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69902919 rs28429181 T C 100 PASS AC=4;AF=0.114217;AN=214;NS=2504;DP=15579;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.3722;EUR_AF=0.0408;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28429181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0477;ExAC_nontcga_ALL=0.0578;ExAC_nontcga_AFR=0.3507;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0265;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0281;ExAC_nontcga_SAS=0.0057;AF=0.1217;AF_popmax=0.3369;AF_male=0.1249;AF_female=0.1178;AF_raw=0.1218;AF_afr=0.3369;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0469;AF_fin=0.0230;AF_asj=0.0034;AF_oth=0.0487;non_topmed_AF_popmax=0.3375;non_neuro_AF_popmax=0.3381;non_cancer_AF_popmax=.;controls_AF_popmax=0.3525;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945768|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.540898;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69905300 rs2817760 G A 100 PASS AC=28;AF=0.295927;AN=214;NS=2504;DP=16337;EAS_AF=0.1607;AMR_AF=0.2017;AFR_AF=0.7436;EUR_AF=0.0845;SAS_AF=0.1145;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.295927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2817760;CLNALLELEID=142117;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0807;ExAC_nontcga_ALL=0.1591;ExAC_nontcga_AFR=0.6511;ExAC_nontcga_AMR=0.1984;ExAC_nontcga_EAS=0.1795;ExAC_nontcga_FIN=0.1095;ExAC_nontcga_NFE=0.0777;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.1420;AF=0.2476;AF_popmax=0.6435;AF_male=0.2552;AF_female=0.2379;AF_raw=0.2477;AF_afr=0.6435;AF_sas=.;AF_amr=0.1757;AF_eas=0.1727;AF_nfe=0.0749;AF_fin=0.1202;AF_asj=0.1414;AF_oth=0.1308;non_topmed_AF_popmax=0.6432;non_neuro_AF_popmax=0.6401;non_cancer_AF_popmax=.;controls_AF_popmax=0.6425;Kaviar_AF=0.150645;Kaviar_AC=23290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.096456;ALLELE_END GT 1|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 +10 69905411 rs542597145 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17865;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542597145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908063 rs11598744 A T 100 PASS AC=6;AF=0.0577077;AN=214;NS=2504;DP=18945;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.1793;EUR_AF=0.0159;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0577077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11598744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.1457;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0370;ExAC_nontcga_SAS=0.0372;AF=0.0477;AF_popmax=0.1302;AF_male=0.0484;AF_female=0.0468;AF_raw=0.0479;AF_afr=0.1302;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0167;AF_asj=0.0034;AF_oth=0.0257;non_topmed_AF_popmax=0.1299;non_neuro_AF_popmax=0.1377;non_cancer_AF_popmax=.;controls_AF_popmax=0.1371;Kaviar_AF=0.0247862;Kaviar_AC=3832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908157 rs11596653 T C 100 PASS AC=6;AF=0.120607;AN=214;NS=2504;DP=19266;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.4077;EUR_AF=0.0159;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.T1178C:p.V393A,MYPN:NM_001256267:exon6:c.T1178C:p.V393A,MYPN:NM_001256268:exon9:c.T296C:p.V99A;1000g2015aug_all=0.120607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11596653;CLNALLELEID=40453;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.454;SIFT_converted_rankscore=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.140;LRT_converted_rankscore=0.183;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.231;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_converted_rankscore=0.600;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.117;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.023;MetaSVM_score=-0.932;MetaSVM_rankscore=0.439;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.535;CADD_raw_rankscore=0.145;CADD_phred=7.694;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.046;fathmm-MKL_coding_rankscore=0.101;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.703;Eigen-PC-raw=-0.477;GenoCanyon_score=0.879;GenoCanyon_score_rankscore=0.255;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.330;integrated_confidence_value=0;GERP++_RS=2.55;GERP++_RS_rankscore=0.296;phyloP100way_vertebrate=0.416;phyloP100way_vertebrate_rankscore=0.208;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.811;SiPhy_29way_logOdds_rankscore=0.176;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0147;ExAC_nontcga_ALL=0.0455;ExAC_nontcga_AFR=0.3348;ExAC_nontcga_AMR=0.0270;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0101;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0447;ExAC_nontcga_SAS=0.0355;AF=0.1025;AF_popmax=0.3237;AF_male=0.1044;AF_female=0.1002;AF_raw=0.1026;AF_afr=0.3237;AF_sas=.;AF_amr=0.0295;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0167;AF_asj=0.0034;AF_oth=0.0423;non_topmed_AF_popmax=0.3227;non_neuro_AF_popmax=0.3334;non_cancer_AF_popmax=.;controls_AF_popmax=0.3348;Kaviar_AF=0.043861;Kaviar_AC=6781;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.271525;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908241 rs2200897 G A 100 PASS AC=22;AF=0.121605;AN=214;NS=2504;DP=18457;EAS_AF=0.1577;AMR_AF=0.1297;AFR_AF=0.1528;EUR_AF=0.0676;SAS_AF=0.092;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.121605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2200897;CLNALLELEID=142119;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0643;ExAC_nontcga_ALL=0.0951;ExAC_nontcga_AFR=0.1281;ExAC_nontcga_AMR=0.1627;ExAC_nontcga_EAS=0.1790;ExAC_nontcga_FIN=0.0994;ExAC_nontcga_NFE=0.0616;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1011;AF=0.0901;AF_popmax=0.1727;AF_male=0.0925;AF_female=0.0870;AF_raw=0.0903;AF_afr=0.1257;AF_sas=.;AF_amr=0.1371;AF_eas=0.1727;AF_nfe=0.0560;AF_fin=0.1039;AF_asj=0.1379;AF_oth=0.0773;non_topmed_AF_popmax=0.1704;non_neuro_AF_popmax=0.1727;non_cancer_AF_popmax=.;controls_AF_popmax=0.2;Kaviar_AF=0.0893714;Kaviar_AC=13817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1522046|N/A|ESR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 +10 69909756 rs2817759 T C 100 PASS AC=4;AF=0.0946486;AN=214;NS=2504;DP=17641;EAS_AF=0.002;AMR_AF=0.0346;AFR_AF=0.2224;EUR_AF=0.0278;SAS_AF=0.1288;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0946486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2817759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0344;ExAC_nontcga_ALL=0.0572;ExAC_nontcga_AFR=0.1993;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0146;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0535;ExAC_nontcga_SAS=0.1324;AF=0.0762;AF_popmax=0.2008;AF_male=0.0799;AF_female=0.0716;AF_raw=0.0764;AF_afr=0.2008;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0327;AF_fin=0.0201;AF_asj=0.0138;AF_oth=0.0460;non_topmed_AF_popmax=0.2012;non_neuro_AF_popmax=0.1981;non_cancer_AF_popmax=.;controls_AF_popmax=0.2025;Kaviar_AF=0.0528518;Kaviar_AC=8171;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.779753;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69909802 rs10997948 G A 100 PASS AC=14;AF=0.0842652;AN=214;NS=2504;DP=19456;EAS_AF=0.002;AMR_AF=0.0706;AFR_AF=0.1717;EUR_AF=0.0686;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.G1251A:p.Q417Q,MYPN:NM_001256267:exon7:c.G1251A:p.Q417Q,MYPN:NM_001256268:exon10:c.G369A:p.Q123Q;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997948;CLNALLELEID=40454;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0826;ExAC_nontcga_ALL=0.0844;ExAC_nontcga_AFR=0.1558;ExAC_nontcga_AMR=0.0475;ExAC_nontcga_EAS=0.0065;ExAC_nontcga_FIN=0.0501;ExAC_nontcga_NFE=0.0888;ExAC_nontcga_OTH=0.1037;ExAC_nontcga_SAS=0.1057;AF=0.0936;AF_popmax=0.1544;AF_male=0.0939;AF_female=0.0933;AF_raw=0.0938;AF_afr=0.1544;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.0792;AF_fin=0.0617;AF_asj=0.0862;AF_oth=0.0671;non_topmed_AF_popmax=0.1534;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1486;Kaviar_AF=0.0840093;Kaviar_AC=12988;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.405156;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69909844 rs147184158 C A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19035;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.C1293A:p.I431I,MYPN:NM_001256267:exon7:c.C1293A:p.I431I,MYPN:NM_001256268:exon10:c.C411A:p.I137I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147184158;CLNALLELEID=195434;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0005;AF_popmax=0.0059;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.385616;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69909899 rs7096613 G A 100 PASS AC=15;AF=0.14996;AN=214;NS=2504;DP=18402;EAS_AF=0.002;AMR_AF=0.0879;AFR_AF=0.4092;EUR_AF=0.0706;SAS_AF=0.0777;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7096613;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0826;ExAC_nontcga_ALL=0.1045;ExAC_nontcga_AFR=0.3603;ExAC_nontcga_AMR=0.0597;ExAC_nontcga_EAS=0.0067;ExAC_nontcga_FIN=0.0506;ExAC_nontcga_NFE=0.0902;ExAC_nontcga_OTH=0.1111;ExAC_nontcga_SAS=0.1078;AF=0.1487;AF_popmax=0.3485;AF_male=0.1521;AF_female=0.1443;AF_raw=0.1487;AF_afr=0.3485;AF_sas=.;AF_amr=0.0719;AF_eas=0.0096;AF_nfe=0.0799;AF_fin=0.0619;AF_asj=0.0862;AF_oth=0.0784;non_topmed_AF_popmax=0.3475;non_neuro_AF_popmax=0.3378;non_cancer_AF_popmax=.;controls_AF_popmax=0.3403;Kaviar_AF=0.100943;Kaviar_AC=15606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669119;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69918442 rs138631064 CACTT C 100 PASS AC=4;AF=0.0379393;AN=214;NS=2504;DP=15405;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.115;EUR_AF=0.0119;SAS_AF=0.0164;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138631064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0428;AF_popmax=0.1142;AF_male=0.0426;AF_female=0.0431;AF_raw=0.0428;AF_afr=0.1142;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0167;AF_fin=0.0148;AF_asj=0.0103;AF_oth=0.0221;non_topmed_AF_popmax=0.1142;non_neuro_AF_popmax=0.1137;non_cancer_AF_popmax=.;controls_AF_popmax=0.1143;Kaviar_AF=0.003381;Kaviar_AC=88;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.509998;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69925596 rs41278498 G C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=18072;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41278498;CLNALLELEID=512841;CLNDN=Dilated_cardiomyopathy_1KK;CLNDISDB=MedGen:C3714995,OMIM:615248;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0017;AF=0.0074;AF_popmax=0.0115;AF_male=0.0074;AF_female=0.0073;AF_raw=0.0074;AF_afr=0.0024;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0055;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.725426;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69926097 rs2673794 T C 100 PASS AC=140;AF=0.482628;AN=214;NS=2504;DP=14543;EAS_AF=0.3125;AMR_AF=0.6844;AFR_AF=0.2769;EUR_AF=0.6859;SAS_AF=0.5838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;1000g2015aug_all=0.482628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2673794;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6960;ExAC_nontcga_ALL=0.6198;ExAC_nontcga_AFR=0.3384;ExAC_nontcga_AMR=0.6887;ExAC_nontcga_EAS=0.2892;ExAC_nontcga_FIN=0.7417;ExAC_nontcga_NFE=0.6848;ExAC_nontcga_OTH=0.6556;ExAC_nontcga_SAS=0.6198;AF=0.5884;AF_popmax=0.7086;AF_male=0.5745;AF_female=0.6059;AF_raw=0.5881;AF_afr=0.3462;AF_sas=.;AF_amr=0.6521;AF_eas=0.2851;AF_nfe=0.7086;AF_fin=0.7444;AF_asj=0.6771;AF_oth=0.6823;non_topmed_AF_popmax=0.7159;non_neuro_AF_popmax=0.7089;non_cancer_AF_popmax=.;controls_AF_popmax=0.7418;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.444903;ALLELE_END GT 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 1|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69926319 rs61854624 C A 100 PASS AC=49;AF=0.116613;AN=214;NS=2504;DP=16743;EAS_AF=0.0962;AMR_AF=0.2622;AFR_AF=0.0091;EUR_AF=0.164;SAS_AF=0.1309;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1869A:p.T623T,MYPN:NM_001256267:exon11:c.C1869A:p.T623T,MYPN:NM_001256268:exon14:c.C987A:p.T329T;1000g2015aug_all=0.116613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61854624;CLNALLELEID=40463;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1735;ExAC_nontcga_ALL=0.1566;ExAC_nontcga_AFR=0.0302;ExAC_nontcga_AMR=0.2487;ExAC_nontcga_EAS=0.0860;ExAC_nontcga_FIN=0.1783;ExAC_nontcga_NFE=0.1672;ExAC_nontcga_OTH=0.1657;ExAC_nontcga_SAS=0.1532;AF=0.1266;AF_popmax=0.2087;AF_male=0.1233;AF_female=0.1307;AF_raw=0.1266;AF_afr=0.0276;AF_sas=.;AF_amr=0.2087;AF_eas=0.0954;AF_nfe=0.1619;AF_fin=0.1883;AF_asj=0.3069;AF_oth=0.1543;non_topmed_AF_popmax=0.2086;non_neuro_AF_popmax=0.1913;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.155037;Kaviar_AC=23969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.867298;ALLELE_END GT 1|0 0|1 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69926325 rs2673793 C T 100 PASS AC=53;AF=0.157748;AN=214;NS=2504;DP=16669;EAS_AF=0.0962;AMR_AF=0.2767;AFR_AF=0.1362;EUR_AF=0.1759;SAS_AF=0.1472;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1875T:p.P625P,MYPN:NM_001256267:exon11:c.C1875T:p.P625P,MYPN:NM_001256268:exon14:c.C993T:p.P331P;1000g2015aug_all=0.157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2673793;CLNALLELEID=40456;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1866;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.1491;ExAC_nontcga_AMR=0.2600;ExAC_nontcga_EAS=0.0861;ExAC_nontcga_FIN=0.1873;ExAC_nontcga_NFE=0.1813;ExAC_nontcga_OTH=0.2003;ExAC_nontcga_SAS=0.1861;AF=0.1731;AF_popmax=0.2252;AF_male=0.1695;AF_female=0.1777;AF_raw=0.1734;AF_afr=0.1553;AF_sas=.;AF_amr=0.2252;AF_eas=0.0950;AF_nfe=0.1787;AF_fin=0.2029;AF_asj=0.3125;AF_oth=0.1765;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2154;Kaviar_AF=0.176531;Kaviar_AC=27292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.063706;ALLELE_END GT 1|0 0|1 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69926334 rs10823148 C G 100 PASS AC=87;AF=0.316494;AN=214;NS=2504;DP=16523;EAS_AF=0.2163;AMR_AF=0.4049;AFR_AF=0.1104;EUR_AF=0.5099;SAS_AF=0.4366;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;1000g2015aug_all=0.316494;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10823148;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.557;SIFT_converted_rankscore=0.165;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=0.060;MutationTaster_converted_rankscore=0.373;MutationTaster_pred=P;MutationAssessor_score=0.835;MutationAssessor_score_rankscore=0.211;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.555;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.267;MetaSVM_score=-0.929;MetaSVM_rankscore=0.444;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.756;CADD_raw_rankscore=0.166;CADD_phred=9.186;DANN_score=0.646;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_rankscore=0.450;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.280;Eigen-PC-raw=-0.131;GenoCanyon_score=0.502;GenoCanyon_score_rankscore=0.209;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.3;GERP++_RS_rankscore=0.504;phyloP100way_vertebrate=1.709;phyloP100way_vertebrate_rankscore=0.373;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.595;phastCons20way_mammalian_rankscore=0.288;SiPhy_29way_logOdds=7.614;SiPhy_29way_logOdds_rankscore=0.271;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000138347.11;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5095;ExAC_nontcga_ALL=0.4349;ExAC_nontcga_AFR=0.1592;ExAC_nontcga_AMR=0.4244;ExAC_nontcga_EAS=0.2018;ExAC_nontcga_FIN=0.5534;ExAC_nontcga_NFE=0.5025;ExAC_nontcga_OTH=0.4553;ExAC_nontcga_SAS=0.4334;AF=0.4062;AF_popmax=0.5293;AF_male=0.3954;AF_female=0.4197;AF_raw=0.4064;AF_afr=0.1606;AF_sas=.;AF_amr=0.4222;AF_eas=0.1893;AF_nfe=0.5293;AF_fin=0.5417;AF_asj=0.3586;AF_oth=0.5037;non_topmed_AF_popmax=0.5374;non_neuro_AF_popmax=0.5287;non_cancer_AF_popmax=.;controls_AF_popmax=0.5582;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.204429;ALLELE_END GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69933921 rs10997975 G A 100 PASS AC=85;AF=0.335863;AN=214;NS=2504;DP=17477;EAS_AF=0.2649;AMR_AF=0.4035;AFR_AF=0.1762;EUR_AF=0.4851;SAS_AF=0.4233;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;1000g2015aug_all=0.335863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997975;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_converted_rankscore=0.220;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.75;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_converted_rankscore=0.031;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-0.916;MetaSVM_rankscore=0.462;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.042;REVEL_rankscore=0.116;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.657;CADD_raw_rankscore=0.157;CADD_phred=8.543;DANN_score=0.184;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_rankscore=0.120;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.980;Eigen-PC-raw=-0.796;GenoCanyon_score=0.348;GenoCanyon_score_rankscore=0.196;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.21;GERP++_RS_rankscore=0.358;phyloP100way_vertebrate=0.447;phyloP100way_vertebrate_rankscore=0.213;phyloP20way_mammalian=0.168;phyloP20way_mammalian_rankscore=0.246;phastCons100way_vertebrate=0.094;phastCons100way_vertebrate_rankscore=0.225;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=8.094;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=.;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.48;ExAC_nontcga_ALL=0.4288;ExAC_nontcga_AFR=0.2071;ExAC_nontcga_AMR=0.4168;ExAC_nontcga_EAS=0.2611;ExAC_nontcga_FIN=0.5402;ExAC_nontcga_NFE=0.4796;ExAC_nontcga_OTH=0.4568;ExAC_nontcga_SAS=0.4251;AF=0.4046;AF_popmax=0.4997;AF_male=0.3952;AF_female=0.4164;AF_raw=0.4043;AF_afr=0.2074;AF_sas=.;AF_amr=0.4216;AF_eas=0.2323;AF_nfe=0.4997;AF_fin=0.5259;AF_asj=0.3621;AF_oth=0.4917;non_topmed_AF_popmax=0.5089;non_neuro_AF_popmax=0.4988;non_cancer_AF_popmax=.;controls_AF_popmax=0.5313;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.388223;ALLELE_END GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69933969 rs7916821 G A 100 PASS AC=85;AF=0.32508;AN=214;NS=2504;DP=18267;EAS_AF=0.2163;AMR_AF=0.4035;AFR_AF=0.1762;EUR_AF=0.4851;SAS_AF=0.4182;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;1000g2015aug_all=0.32508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7916821;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_converted_rankscore=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.045;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_converted_rankscore=0.205;LRT_pred=N;MutationTaster_score=0.971;MutationTaster_converted_rankscore=0.256;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_converted_rankscore=0.123;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.109;MetaSVM_score=-0.933;MetaSVM_rankscore=0.437;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.097;REVEL_rankscore=0.284;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.882;CADD_raw_rankscore=0.287;CADD_phred=15.48;DANN_score=0.987;DANN_rankscore=0.445;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_rankscore=0.260;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.199;Eigen-PC-raw=-0.052;GenoCanyon_score=0.081;GenoCanyon_score_rankscore=0.159;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.68;GERP++_RS_rankscore=0.582;phyloP100way_vertebrate=0.843;phyloP100way_vertebrate_rankscore=0.271;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.845;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.852;phastCons20way_mammalian_rankscore=0.355;SiPhy_29way_logOdds=8.752;SiPhy_29way_logOdds_rankscore=0.336;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4798;ExAC_nontcga_ALL=0.4236;ExAC_nontcga_AFR=0.2073;ExAC_nontcga_AMR=0.4145;ExAC_nontcga_EAS=0.2050;ExAC_nontcga_FIN=0.5380;ExAC_nontcga_NFE=0.4790;ExAC_nontcga_OTH=0.4510;ExAC_nontcga_SAS=0.4231;AF=0.4013;AF_popmax=0.4990;AF_male=0.3916;AF_female=0.4135;AF_raw=0.4015;AF_afr=0.2064;AF_sas=.;AF_amr=0.4133;AF_eas=0.1916;AF_nfe=0.4990;AF_fin=0.5242;AF_asj=0.3621;AF_oth=0.4871;non_topmed_AF_popmax=0.5083;non_neuro_AF_popmax=0.4982;non_cancer_AF_popmax=.;controls_AF_popmax=0.5310;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.151452;ALLELE_END GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69934012 rs71584491 C A 100 PASS AC=4;AF=0.0429313;AN=214;NS=2504;DP=18309;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.1331;EUR_AF=0.0109;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2163A:p.A721A,MYPN:NM_001256267:exon12:c.C2163A:p.A721A,MYPN:NM_001256268:exon15:c.C1281A:p.A427A;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71584491;CLNALLELEID=40466;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0123;ExAC_nontcga_ALL=0.0238;ExAC_nontcga_AFR=0.1125;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0325;AF=0.0414;AF_popmax=0.1101;AF_male=0.0426;AF_female=0.0398;AF_raw=0.0416;AF_afr=0.1101;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0144;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.1102;non_neuro_AF_popmax=0.1046;non_cancer_AF_popmax=.;controls_AF_popmax=0.1069;Kaviar_AF=0.0226258;Kaviar_AC=3498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.701038;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69934258 rs3814182 C G 100 PASS AC=108;AF=0.471446;AN=214;NS=2504;DP=18659;EAS_AF=0.3512;AMR_AF=0.4597;AFR_AF=0.447;EUR_AF=0.5666;SAS_AF=0.5389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;1000g2015aug_all=0.471446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3814182;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_rankscore=0.464;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.397;Polyphen2_HVAR_rankscore=0.432;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.416;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_converted_rankscore=0.297;MutationTaster_pred=P;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=0.36;FATHMM_converted_rankscore=0.583;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.173;VEST3_rankscore=0.446;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.170;REVEL_rankscore=0.438;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.029;CADD_raw_rankscore=0.305;CADD_phred=16.40;DANN_score=0.968;DANN_rankscore=0.307;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.027;Eigen-PC-raw=-1.206;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.328;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-9.63;GERP++_RS_rankscore=0.005;phyloP100way_vertebrate=-3.220;phyloP100way_vertebrate_rankscore=0.006;phyloP20way_mammalian=-0.330;phyloP20way_mammalian_rankscore=0.074;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.913;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=19.595;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000233590.1|ENSG00000233590.1;GTEx_V6p_tissue=Colon_Transverse|Colon_Transverse|Liver;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5509;ExAC_nontcga_ALL=0.5186;ExAC_nontcga_AFR=0.4592;ExAC_nontcga_AMR=0.4525;ExAC_nontcga_EAS=0.3630;ExAC_nontcga_FIN=0.6409;ExAC_nontcga_NFE=0.5518;ExAC_nontcga_OTH=0.5389;ExAC_nontcga_SAS=0.5107;AF=0.5272;AF_popmax=0.5668;AF_male=0.5245;AF_female=0.5306;AF_raw=0.5268;AF_afr=0.4512;AF_sas=.;AF_amr=0.4525;AF_eas=0.3779;AF_nfe=0.5668;AF_fin=0.6191;AF_asj=0.4862;AF_oth=0.5610;non_topmed_AF_popmax=0.5729;non_neuro_AF_popmax=0.5650;non_cancer_AF_popmax=.;controls_AF_popmax=0.5882;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421069;ALLELE_END GT 1|1 1|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 1|1 0|0 0|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|1 1|1 1|0 1|0 1|1 0|1 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|1 0|0 1|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|1 1|0 0|0 +10 69934259 rs62620248 G A 100 PASS AC=4;AF=0.0103834;AN=214;NS=2504;DP=18616;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0023;EUR_AF=0.0288;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2410A:p.G804R,MYPN:NM_001256267:exon12:c.G2410A:p.G804R,MYPN:NM_001256268:exon15:c.G1528A:p.G510R;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62620248;CLNALLELEID=40469;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.042;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.520;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.384;Polyphen2_HVAR_rankscore=0.422;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.880;MutationTaster_converted_rankscore=0.280;MutationTaster_pred=N;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.57;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_converted_rankscore=0.046;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.137;MetaSVM_score=-0.998;MetaSVM_rankscore=0.305;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_rankscore=0.163;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.875;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.997;DANN_rankscore=0.798;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_rankscore=0.425;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.307;Eigen-PC-raw=0.396;GenoCanyon_score=0.284;GenoCanyon_score_rankscore=0.190;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=2.147;phyloP100way_vertebrate_rankscore=0.416;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.990;phastCons100way_vertebrate_rankscore=0.367;phastCons20way_mammalian=0.959;phastCons20way_mammalian_rankscore=0.439;SiPhy_29way_logOdds=12.540;SiPhy_29way_logOdds_rankscore=0.553;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.035;ExAC_nontcga_ALL=0.0177;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0101;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0045;AF=0.0156;AF_popmax=0.0247;AF_male=0.0155;AF_female=0.0157;AF_raw=0.0156;AF_afr=0.0039;AF_sas=.;AF_amr=0.0201;AF_eas=0;AF_nfe=0.0247;AF_fin=0.0107;AF_asj=0.0276;AF_oth=0.0110;non_topmed_AF_popmax=0.0217;non_neuro_AF_popmax=0.0254;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.0191589;Kaviar_AC=2962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421069;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69934467 rs3814183 A G 100 PASS AC=164;AF=0.817093;AN=214;NS=2504;DP=20456;EAS_AF=0.8948;AMR_AF=0.7161;AFR_AF=0.7829;EUR_AF=0.8111;SAS_AF=0.8609;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.817093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3814183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8081;AF_popmax=0.9107;AF_male=0.8089;AF_female=0.8072;AF_raw=0.8076;AF_afr=0.7886;AF_sas=.;AF_amr=0.7630;AF_eas=0.9107;AF_nfe=0.8178;AF_fin=0.7900;AF_asj=0.6897;AF_oth=0.8057;non_topmed_AF_popmax=0.9084;non_neuro_AF_popmax=0.9107;non_cancer_AF_popmax=.;controls_AF_popmax=0.8982;Kaviar_AF=0.157818;Kaviar_AC=24399;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|0 +10 69935059 rs7097776 A G 100 PASS AC=139;AF=0.547524;AN=214;NS=2504;DP=15055;EAS_AF=0.3294;AMR_AF=0.7133;AFR_AF=0.4955;EUR_AF=0.7097;SAS_AF=0.5583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.547524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7097776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7103;ExAC_nontcga_ALL=0.6495;ExAC_nontcga_AFR=0.5171;ExAC_nontcga_AMR=0.7067;ExAC_nontcga_EAS=0.2982;ExAC_nontcga_FIN=0.7665;ExAC_nontcga_NFE=0.7117;ExAC_nontcga_OTH=0.6957;ExAC_nontcga_SAS=0.5952;AF=0.6463;AF_popmax=0.7210;AF_male=0.6354;AF_female=0.6599;AF_raw=0.6460;AF_afr=0.5152;AF_sas=.;AF_amr=0.6848;AF_eas=0.2832;AF_nfe=0.7210;AF_fin=0.7690;AF_asj=0.7103;AF_oth=0.7123;non_topmed_AF_popmax=0.7270;non_neuro_AF_popmax=0.7193;non_cancer_AF_popmax=.;controls_AF_popmax=0.7437;Kaviar_AF=0.641706;Kaviar_AC=99209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.698597;ALLELE_END GT 1|1 0|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69935062 rs560312633 T G 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14790;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0119;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560312633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0099;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128106;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69935235 rs6480306 T C 100 PASS AC=214;AF=0.982428;AN=214;NS=2504;DP=16786;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9342;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6480306;CLNALLELEID=142122;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9990;ExAC_nontcga_ALL=0.9939;ExAC_nontcga_AFR=0.9414;ExAC_nontcga_AMR=0.9973;ExAC_nontcga_EAS=0.9999;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9996;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9962;AF=0.9817;AF_popmax=1;AF_male=0.9814;AF_female=0.9820;AF_raw=0.9816;AF_afr=0.9358;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9936;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.951864;Kaviar_AC=147160;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.211278;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 69948844 rs10733838 T C 100 PASS AC=214;AF=0.984625;AN=214;NS=2504;DP=17218;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9425;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V;1000g2015aug_all=0.984625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10733838;CLNALLELEID=40459;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9957;ExAC_nontcga_AFR=0.9531;ExAC_nontcga_AMR=0.9983;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9852;AF_popmax=1;AF_male=0.9850;AF_female=0.9855;AF_raw=0.9852;AF_afr=0.9481;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.948526;Kaviar_AC=146644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.672016;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 69948892 rs12241644 G C 100 PASS AC=2;AF=0.0141773;AN=214;NS=2504;DP=18323;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0446;EUR_AF=0.005;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0141773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12241644;CLNALLELEID=142125;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0060;ExAC_nontcga_AFR=0.0417;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0056;AF=0.0127;AF_popmax=0.0410;AF_male=0.0140;AF_female=0.0112;AF_raw=0.0127;AF_afr=0.0410;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0411;non_neuro_AF_popmax=0.0381;non_cancer_AF_popmax=.;controls_AF_popmax=0.0381;Kaviar_AF=0.0055497;Kaviar_AC=858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.871692;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69954090 rs71584497 A G 100 PASS AC=4;AF=0.00678914;AN=214;NS=2504;DP=17060;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71584497;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0199;ExAC_nontcga_ALL=0.0169;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0099;ExAC_nontcga_NFE=0.0208;ExAC_nontcga_OTH=0.0269;ExAC_nontcga_SAS=0.0282;AF=0.0157;AF_popmax=0.0230;AF_male=0.0159;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0046;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0230;AF_fin=0.0176;AF_asj=0.0414;AF_oth=0.0175;non_topmed_AF_popmax=0.0245;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0162546;Kaviar_AC=2513;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69954290 rs7081213 G A 100 PASS AC=85;AF=0.35603;AN=214;NS=2504;DP=19205;EAS_AF=0.2401;AMR_AF=0.4078;AFR_AF=0.2738;EUR_AF=0.4821;SAS_AF=0.4202;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7081213;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4774;ExAC_nontcga_ALL=0.4389;ExAC_nontcga_AFR=0.3030;ExAC_nontcga_AMR=0.4201;ExAC_nontcga_EAS=0.2358;ExAC_nontcga_FIN=0.5423;ExAC_nontcga_NFE=0.4839;ExAC_nontcga_OTH=0.475;ExAC_nontcga_SAS=0.4299;AF=0.4291;AF_popmax=0.4992;AF_male=0.4215;AF_female=0.4386;AF_raw=0.4290;AF_afr=0.3003;AF_sas=.;AF_amr=0.4301;AF_eas=0.2155;AF_nfe=0.4992;AF_fin=0.5225;AF_asj=0.3621;AF_oth=0.4899;non_topmed_AF_popmax=0.5083;non_neuro_AF_popmax=0.4988;non_cancer_AF_popmax=.;controls_AF_popmax=0.5325;Kaviar_AF=0.431812;Kaviar_AC=66759;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979848;ALLELE_END GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69954301 rs11815154 C T 100 PASS AC=42;AF=0.117812;AN=214;NS=2504;DP=19845;EAS_AF=0.1181;AMR_AF=0.2507;AFR_AF=0.0098;EUR_AF=0.167;SAS_AF=0.1186;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11815154;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1633;ExAC_nontcga_ALL=0.1521;ExAC_nontcga_AFR=0.0306;ExAC_nontcga_AMR=0.2531;ExAC_nontcga_EAS=0.0971;ExAC_nontcga_FIN=0.1857;ExAC_nontcga_NFE=0.1608;ExAC_nontcga_OTH=0.1590;ExAC_nontcga_SAS=0.1371;AF=0.1211;AF_popmax=0.2057;AF_male=0.1183;AF_female=0.1246;AF_raw=0.1212;AF_afr=0.0261;AF_sas=.;AF_amr=0.2057;AF_eas=0.0959;AF_nfe=0.1527;AF_fin=0.1881;AF_asj=0.2465;AF_oth=0.1562;non_topmed_AF_popmax=0.2079;non_neuro_AF_popmax=0.1848;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.144739;Kaviar_AC=22377;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.138258::0.219998;Heart_Left_Ventricle=Heart_Left_Ventricle::0.137868::-0.303189;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.137292;ALLELE_END GT 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69955140 rs7069569 T A 100 PASS AC=131;AF=0.48143;AN=214;NS=2504;DP=17932;EAS_AF=0.3591;AMR_AF=0.6628;AFR_AF=0.2874;EUR_AF=0.663;SAS_AF=0.5542;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.48143;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7069569;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5667;AF_popmax=0.6754;AF_male=0.5568;AF_female=0.5792;AF_raw=0.5667;AF_afr=0.3326;AF_sas=.;AF_amr=0.6450;AF_eas=0.3090;AF_nfe=0.6754;AF_fin=0.7282;AF_asj=0.6552;AF_oth=0.6651;non_topmed_AF_popmax=0.6816;non_neuro_AF_popmax=0.6759;non_cancer_AF_popmax=.;controls_AF_popmax=0.7057;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 0|1 0|0 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69957279 rs182989437 T G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14610;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182989437;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.616e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.981e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.238e-05;AF_popmax=6.579e-05;AF_male=5.807e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.579e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.198e-05;non_neuro_AF_popmax=7.468e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1412240|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.261007;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 69959097 rs7079549 G T 100 PASS AC=145;AF=0.538139;AN=214;NS=2504;DP=17909;EAS_AF=0.3581;AMR_AF=0.7233;AFR_AF=0.3896;EUR_AF=0.7455;SAS_AF=0.5798;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7473;ExAC_nontcga_ALL=0.6702;ExAC_nontcga_AFR=0.4485;ExAC_nontcga_AMR=0.7097;ExAC_nontcga_EAS=0.3287;ExAC_nontcga_FIN=0.7960;ExAC_nontcga_NFE=0.7452;ExAC_nontcga_OTH=0.7338;ExAC_nontcga_SAS=0.6272;AF=0.6502;AF_popmax=0.7553;AF_male=0.6414;AF_female=0.6613;AF_raw=0.6497;AF_afr=0.4471;AF_sas=.;AF_amr=0.7021;AF_eas=0.3123;AF_nfe=0.7553;AF_fin=0.7951;AF_asj=0.7361;AF_oth=0.7362;non_topmed_AF_popmax=0.7579;non_neuro_AF_popmax=0.7543;non_cancer_AF_popmax=.;controls_AF_popmax=0.7654;Kaviar_AF=0.663543;Kaviar_AC=102585;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.134722;ALLELE_END GT 1|1 0|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69959174 rs71534278 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18012;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3335T:p.P1112L,MYPN:NM_001256267:exon18:c.C3335T:p.P1112L,MYPN:NM_001256268:exon21:c.C2453T:p.P818L;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71534278;CLNALLELEID=40451;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:C3714998|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.053;SIFT_converted_rankscore=0.388;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-5.4;PROVEAN_converted_rankscore=0.851;PROVEAN_pred=D;VEST3_score=0.761;VEST3_rankscore=0.797;MetaSVM_score=-0.646;MetaSVM_rankscore=0.629;MetaSVM_pred=T;MetaLR_score=0.240;MetaLR_rankscore=0.608;MetaLR_pred=T;M-CAP_score=0.045;M-CAP_rankscore=0.620;M-CAP_pred=D;REVEL_score=0.445;REVEL_rankscore=0.750;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.849;CADD_raw_rankscore=0.801;CADD_phred=27.3;DANN_score=0.999;DANN_rankscore=0.980;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.721;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.578;Eigen-PC-raw=0.627;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=6.010;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.201;SiPhy_29way_logOdds_rankscore=0.651;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0055;AF=0.0021;AF_popmax=0.0094;AF_male=0.0022;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0016;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.002846;Kaviar_AC=440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.608949;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69959242 rs7079481 C A 100 PASS AC=85;AF=0.340256;AN=214;NS=2504;DP=19149;EAS_AF=0.2391;AMR_AF=0.402;AFR_AF=0.2163;EUR_AF=0.4841;SAS_AF=0.4202;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;1000g2015aug_all=0.340256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079481;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_converted_rankscore=0.722;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.809;PROVEAN_pred=D;VEST3_score=0.494;VEST3_rankscore=0.594;MetaSVM_score=-0.935;MetaSVM_rankscore=0.434;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.439;REVEL_rankscore=0.746;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.536;CADD_raw_rankscore=0.900;CADD_phred=31;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.864;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.666;Eigen-PC-raw=0.686;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.869;phastCons20way_mammalian_rankscore=0.363;SiPhy_29way_logOdds=19.331;SiPhy_29way_logOdds_rankscore=0.943;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000233590.1|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4786;ExAC_nontcga_ALL=0.4305;ExAC_nontcga_AFR=0.2525;ExAC_nontcga_AMR=0.4157;ExAC_nontcga_EAS=0.2269;ExAC_nontcga_FIN=0.5374;ExAC_nontcga_NFE=0.4803;ExAC_nontcga_OTH=0.4697;ExAC_nontcga_SAS=0.4264;AF=0.4170;AF_popmax=0.5001;AF_male=0.4096;AF_female=0.4263;AF_raw=0.4169;AF_afr=0.2570;AF_sas=.;AF_amr=0.4222;AF_eas=0.2093;AF_nfe=0.5001;AF_fin=0.5224;AF_asj=0.3611;AF_oth=0.4870;non_topmed_AF_popmax=0.5089;non_neuro_AF_popmax=0.4998;non_cancer_AF_popmax=.;controls_AF_popmax=0.5331;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.605475;ALLELE_END GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69959281 rs200390297 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19260;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.G3442C:p.A1148P,MYPN:NM_001256267:exon18:c.G3442C:p.A1148P,MYPN:NM_001256268:exon21:c.G2560C:p.A854P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200390297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.01;MutationAssessor_score_rankscore=0.969;MutationAssessor_pred=H;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-4.5;PROVEAN_converted_rankscore=0.781;PROVEAN_pred=D;VEST3_score=0.958;VEST3_rankscore=0.957;MetaSVM_score=0.939;MetaSVM_rankscore=0.962;MetaSVM_pred=D;MetaLR_score=0.814;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=0.266;M-CAP_rankscore=0.897;M-CAP_pred=D;REVEL_score=0.891;REVEL_rankscore=0.969;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.922;CADD_raw_rankscore=0.933;CADD_phred=33;DANN_score=0.998;DANN_rankscore=0.850;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.942;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.134;Eigen-PC-raw=1.021;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=19.331;SiPhy_29way_logOdds_rankscore=0.943;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.635210;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69959345 rs11279655 GCTGGGA G 100 PASS AC=85;AF=0.358227;AN=214;NS=2504;DP=19940;EAS_AF=0.2391;AMR_AF=0.4092;AFR_AF=0.2806;EUR_AF=0.4841;SAS_AF=0.4202;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.358227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11279655;CLNALLELEID=198282;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4553;ExAC_nontcga_ALL=0.4266;ExAC_nontcga_AFR=0.3014;ExAC_nontcga_AMR=0.4068;ExAC_nontcga_EAS=0.2228;ExAC_nontcga_FIN=0.5238;ExAC_nontcga_NFE=0.4697;ExAC_nontcga_OTH=0.4577;ExAC_nontcga_SAS=0.4248;AF=0.4259;AF_popmax=0.4937;AF_male=0.4181;AF_female=0.4358;AF_raw=0.4281;AF_afr=0.3011;AF_sas=.;AF_amr=0.4323;AF_eas=0.2089;AF_nfe=0.4937;AF_fin=0.5211;AF_asj=0.3627;AF_oth=0.4879;non_topmed_AF_popmax=0.5027;non_neuro_AF_popmax=0.4928;non_cancer_AF_popmax=.;controls_AF_popmax=0.5286;Kaviar_AF=0.012613;Kaviar_AC=1950;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.130942,98.994558;ALLELE_END GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69959397 rs7079974 G A 100 PASS AC=85;AF=0.358227;AN=214;NS=2504;DP=19286;EAS_AF=0.2391;AMR_AF=0.4092;AFR_AF=0.2806;EUR_AF=0.4841;SAS_AF=0.4202;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.358227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079974;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4311;AF_popmax=0.5003;AF_male=0.4238;AF_female=0.4401;AF_raw=0.4309;AF_afr=0.3058;AF_sas=.;AF_amr=0.4336;AF_eas=0.2104;AF_nfe=0.5003;AF_fin=0.5222;AF_asj=0.3646;AF_oth=0.4926;non_topmed_AF_popmax=0.5091;non_neuro_AF_popmax=0.5;non_cancer_AF_popmax=.;controls_AF_popmax=0.5329;Kaviar_AF=0.0865966;Kaviar_AC=13388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.735011;ALLELE_END GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69961805 rs71541553 G A 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=19003;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0045;EUR_AF=0.008;SAS_AF=0.0153;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71541553;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0110;AF_popmax=0.0138;AF_male=0.0118;AF_female=0.0101;AF_raw=0.0111;AF_afr=0.0087;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0138;AF_fin=0.0075;AF_asj=0.0414;AF_oth=0.0120;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0141;non_cancer_AF_popmax=.;controls_AF_popmax=0.0115;Kaviar_AF=0.0127939;Kaviar_AC=333;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0549335|N/A|CEBPB|JASPAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69966602 rs184347775 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon19:c.G3735A:p.T1245T,MYPN:NM_001256267:exon20:c.G3735A:p.T1245T,MYPN:NM_001256268:exon23:c.G2853A:p.T951T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184347775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.367e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.610949;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69969986 rs10998022 C T 100 PASS AC=77;AF=0.285743;AN=214;NS=2504;DP=20761;EAS_AF=0.4692;AMR_AF=0.2594;AFR_AF=0.0961;EUR_AF=0.3201;SAS_AF=0.3364;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10998022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2596;AF_popmax=0.4737;AF_male=0.2626;AF_female=0.2560;AF_raw=0.2597;AF_afr=0.1215;AF_sas=.;AF_amr=0.2866;AF_eas=0.4737;AF_nfe=0.3130;AF_fin=0.2501;AF_asj=0.3759;AF_oth=0.2836;non_topmed_AF_popmax=0.4723;non_neuro_AF_popmax=0.4737;non_cancer_AF_popmax=.;controls_AF_popmax=0.4705;Kaviar_AF=0.0597146;Kaviar_AC=9232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|0 1|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 +10 69969987 rs147880642 G A 100 PASS AC=2;AF=0.00898562;AN=214;NS=2504;DP=20764;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0234;EUR_AF=0.007;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147880642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0165;AF_male=0.0058;AF_female=0.0059;AF_raw=0.0058;AF_afr=0.0165;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0132;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75834538 rs56264452 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17595;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon6:c.C660T:p.N220N,VCL:NM_014000:exon6:c.C660T:p.N220N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56264452;CLNALLELEID=54785;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0014;AF_male=0.0008;AF_female=0.0014;AF_raw=0.0011;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004515|hsa-miR-29b-2-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.114408;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75842152 rs2270548 G A 100 PASS AC=71;AF=0.511182;AN=214;NS=2504;DP=21733;EAS_AF=0.7748;AMR_AF=0.3674;AFR_AF=0.4523;EUR_AF=0.3648;SAS_AF=0.5716;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4189;AF_popmax=0.7751;AF_male=0.4216;AF_female=0.4154;AF_raw=0.4192;AF_afr=0.4478;AF_sas=.;AF_amr=0.3759;AF_eas=0.7751;AF_nfe=0.3762;AF_fin=0.3983;AF_asj=0.2655;AF_oth=0.4237;non_topmed_AF_popmax=0.7774;non_neuro_AF_popmax=0.7751;non_cancer_AF_popmax=.;controls_AF_popmax=0.7978;Kaviar_AF=0.080704;Kaviar_AC=12477;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.537528;ALLELE_END GT 0|1 0|0 1|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 1|0 0|1 0|0 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 +10 75843100 rs1908339 T A 100 PASS AC=108;AF=0.780751;AN=214;NS=2504;DP=19597;EAS_AF=0.9802;AMR_AF=0.598;AFR_AF=0.9175;EUR_AF=0.5239;SAS_AF=0.7843;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1908339;CLNALLELEID=489881;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5227;ExAC_nontcga_ALL=0.6534;ExAC_nontcga_AFR=0.8724;ExAC_nontcga_AMR=0.6562;ExAC_nontcga_EAS=0.9836;ExAC_nontcga_FIN=0.6452;ExAC_nontcga_NFE=0.5349;ExAC_nontcga_OTH=0.6081;ExAC_nontcga_SAS=0.7696;AF=0.6717;AF_popmax=0.9814;AF_male=0.6734;AF_female=0.6694;AF_raw=0.6710;AF_afr=0.8607;AF_sas=.;AF_amr=0.6057;AF_eas=0.9814;AF_nfe=0.5464;AF_fin=0.6539;AF_asj=0.5172;AF_oth=0.6369;non_topmed_AF_popmax=0.9816;non_neuro_AF_popmax=0.9814;non_cancer_AF_popmax=.;controls_AF_popmax=0.9825;Kaviar_AF=0.628439;Kaviar_AC=97158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.094034;ALLELE_END GT 0|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 +10 75849921 rs71579355 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21992;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.T1317C:p.S439S,VCL:NM_014000:exon10:c.T1317C:p.S439S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579355;CLNALLELEID=54743;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0016;AF=0.0029;AF_popmax=0.0047;AF_male=0.0028;AF_female=0.0030;AF_raw=0.0029;AF_afr=0.0015;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0044825;Kaviar_AC=693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392980;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75849991 rs73280468 C A 100 PASS AC=1;AF=0.0249601;AN=214;NS=2504;DP=20764;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0862;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73280468;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0721;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0010;AF=0.0243;AF_popmax=0.0770;AF_male=0.0255;AF_female=0.0229;AF_raw=0.0244;AF_afr=0.0770;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0771;non_cancer_AF_popmax=.;controls_AF_popmax=0.0793;Kaviar_AF=0.0093078;Kaviar_AC=1439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75855541 rs137877092 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=17797;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0123;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon12:c.C1671T:p.D557D,VCL:NM_014000:exon12:c.C1671T:p.D557D;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137877092;CLNALLELEID=54753;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0159;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0187;AF=0.0034;AF_popmax=0.0023;AF_male=0.0029;AF_female=0.0041;AF_raw=0.0034;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0173;AF_asj=0.0103;AF_oth=0.0064;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0044178;Kaviar_AC=683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.561477;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75863750 rs2270552 C T 100 PASS AC=167;AF=0.500998;AN=214;NS=2504;DP=19695;EAS_AF=0.3423;AMR_AF=0.6282;AFR_AF=0.3986;EUR_AF=0.7286;SAS_AF=0.4785;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.500998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270552;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6227;AF_popmax=0.7184;AF_male=0.6183;AF_female=0.6281;AF_raw=0.6221;AF_afr=0.4854;AF_sas=.;AF_amr=0.6140;AF_eas=0.3417;AF_nfe=0.7184;AF_fin=0.6491;AF_asj=0.8414;AF_oth=0.6278;non_topmed_AF_popmax=0.7113;non_neuro_AF_popmax=0.7201;non_cancer_AF_popmax=.;controls_AF_popmax=0.7034;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.852024;ALLELE_END GT 1|0 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|0 1|0 +10 75865065 rs767809 G A 100 PASS AC=132;AF=0.324681;AN=214;NS=2504;DP=19604;EAS_AF=0.254;AMR_AF=0.4568;AFR_AF=0.0598;EUR_AF=0.5915;SAS_AF=0.3875;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;1000g2015aug_all=0.324681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs767809;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5895;ExAC_nontcga_ALL=0.4687;ExAC_nontcga_AFR=0.1237;ExAC_nontcga_AMR=0.3711;ExAC_nontcga_EAS=0.2632;ExAC_nontcga_FIN=0.5442;ExAC_nontcga_NFE=0.5837;ExAC_nontcga_OTH=0.5434;ExAC_nontcga_SAS=0.4097;AF=0.4315;AF_popmax=0.5805;AF_male=0.4258;AF_female=0.4386;AF_raw=0.4311;AF_afr=0.1344;AF_sas=.;AF_amr=0.4575;AF_eas=0.2817;AF_nfe=0.5805;AF_fin=0.5369;AF_asj=0.6840;AF_oth=0.4844;non_topmed_AF_popmax=0.5703;non_neuro_AF_popmax=0.5818;non_cancer_AF_popmax=.;controls_AF_popmax=0.5663;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004559|hsa-miR-181c-3p|Experimental,MIMAT0000761|hsa-miR-324-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805936;ALLELE_END GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75865095 rs538142998 A G 100 PASS AC=7;AF=0.0365415;AN=214;NS=2504;DP=19707;EAS_AF=0.0466;AMR_AF=0.062;AFR_AF=0.0287;EUR_AF=0.0537;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.A2418G:p.G806G,VCL:NM_014000:exon16:c.A2418G:p.G806G;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538142998;CLNALLELEID=258657;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.546e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0003;AF_male=0.0001;AF_female=7.181e-05;AF_raw=9.549e-05;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809405;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75865159 rs55984079 C T 100 PASS AC=16;AF=0.0157748;AN=214;NS=2504;DP=20937;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.0023;EUR_AF=0.0467;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55984079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0610;ExAC_nontcga_ALL=0.0378;ExAC_nontcga_AFR=0.0086;ExAC_nontcga_AMR=0.0336;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0566;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0145;AF=0.0365;AF_popmax=0.0545;AF_male=0.0374;AF_female=0.0353;AF_raw=0.0365;AF_afr=0.0108;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.0545;AF_fin=0.0282;AF_asj=0.0828;AF_oth=0.0414;non_topmed_AF_popmax=0.0510;non_neuro_AF_popmax=0.0632;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0391974;Kaviar_AC=6060;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.066364;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +10 75866929 rs2131957 C A 100 PASS AC=133;AF=0.400958;AN=214;NS=2504;DP=22113;EAS_AF=0.254;AMR_AF=0.4914;AFR_AF=0.3253;EUR_AF=0.5984;SAS_AF=0.3875;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.400958;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2131957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5089;AF_popmax=0.5858;AF_male=0.5056;AF_female=0.5130;AF_raw=0.5089;AF_afr=0.3958;AF_sas=.;AF_amr=0.4858;AF_eas=0.2804;AF_nfe=0.5858;AF_fin=0.5423;AF_asj=0.6966;AF_oth=0.5111;non_topmed_AF_popmax=0.5760;non_neuro_AF_popmax=0.5865;non_cancer_AF_popmax=.;controls_AF_popmax=0.5704;Kaviar_AF=0.0208237;Kaviar_AC=542;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.185861;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1182812|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.346867;ALLELE_END GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75871735 rs2131956 C G 100 PASS AC=170;AF=0.623003;AN=214;NS=2504;DP=19638;EAS_AF=0.3819;AMR_AF=0.6744;AFR_AF=0.7753;EUR_AF=0.7485;SAS_AF=0.5;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;1000g2015aug_all=0.623003;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2131956;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7521;ExAC_nontcga_ALL=0.6646;ExAC_nontcga_AFR=0.7817;ExAC_nontcga_AMR=0.5656;ExAC_nontcga_EAS=0.3745;ExAC_nontcga_FIN=0.6739;ExAC_nontcga_NFE=0.7401;ExAC_nontcga_OTH=0.7133;ExAC_nontcga_SAS=0.5495;AF=0.7295;AF_popmax=0.7929;AF_male=0.7275;AF_female=0.7319;AF_raw=0.7290;AF_afr=0.7929;AF_sas=.;AF_amr=0.6525;AF_eas=0.3867;AF_nfe=0.7456;AF_fin=0.6762;AF_asj=0.8586;AF_oth=0.6759;non_topmed_AF_popmax=0.7931;non_neuro_AF_popmax=0.7919;non_cancer_AF_popmax=.;controls_AF_popmax=0.7950;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.730915;ALLELE_END GT 1|0 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|0 1|0 +10 75873892 rs10824072 C T 100 PASS AC=133;AF=0.400958;AN=214;NS=2504;DP=20238;EAS_AF=0.254;AMR_AF=0.4914;AFR_AF=0.3253;EUR_AF=0.5984;SAS_AF=0.3875;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.400958;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10824072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5953;ExAC_nontcga_ALL=0.4955;ExAC_nontcga_AFR=0.3791;ExAC_nontcga_AMR=0.3871;ExAC_nontcga_EAS=0.2643;ExAC_nontcga_FIN=0.5454;ExAC_nontcga_NFE=0.5897;ExAC_nontcga_OTH=0.5608;ExAC_nontcga_SAS=0.4115;AF=0.5096;AF_popmax=0.5865;AF_male=0.5061;AF_female=0.5138;AF_raw=0.5091;AF_afr=0.3966;AF_sas=.;AF_amr=0.4894;AF_eas=0.2804;AF_nfe=0.5865;AF_fin=0.5429;AF_asj=0.6966;AF_oth=0.5101;non_topmed_AF_popmax=0.5768;non_neuro_AF_popmax=0.5873;non_cancer_AF_popmax=.;controls_AF_popmax=0.5710;Kaviar_AF=0.495847;Kaviar_AC=76659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.185861;ENSEMBLReg=Name\x3dENSR00000946465|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.535256;ALLELE_END GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75873920 rs71579378 C G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19847;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579378;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0071;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0002;AF=0.0075;AF_popmax=0.0108;AF_male=0.0073;AF_female=0.0078;AF_raw=0.0075;AF_afr=0.0028;AF_sas=.;AF_amr=0.0094;AF_eas=0.0006;AF_nfe=0.0108;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0157;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000946465|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.493086;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75874190 rs561809089 T C 100 PASS AC=2;AF=0.0125799;AN=214;NS=2504;DP=16699;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0378;EUR_AF=0.006;SAS_AF=0.002;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561809089;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0023;ExAC_nontcga_SAS=0.0009;AF=0.0026;AF_popmax=0.0041;AF_male=0.0025;AF_female=0.0028;AF_raw=0.0026;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0021;AF_asj=0.0035;AF_oth=0.0019;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0008991;Kaviar_AC=139;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75874192 rs2270550 T C 100 PASS AC=126;AF=0.382788;AN=214;NS=2504;DP=16676;EAS_AF=0.2639;AMR_AF=0.4625;AFR_AF=0.2806;EUR_AF=0.5696;SAS_AF=0.3947;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3936;ExAC_nontcga_AFR=0.1884;ExAC_nontcga_AMR=0.3039;ExAC_nontcga_EAS=0.2086;ExAC_nontcga_FIN=0.4278;ExAC_nontcga_NFE=0.4783;ExAC_nontcga_OTH=0.4623;ExAC_nontcga_SAS=0.3605;AF=0.4165;AF_popmax=0.5380;AF_male=0.4149;AF_female=0.4185;AF_raw=0.4064;AF_afr=0.1933;AF_sas=.;AF_amr=0.425;AF_eas=0.2787;AF_nfe=0.5380;AF_fin=0.4613;AF_asj=0.6679;AF_oth=0.4585;non_topmed_AF_popmax=0.5284;non_neuro_AF_popmax=0.5396;non_cancer_AF_popmax=.;controls_AF_popmax=0.5227;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.454468;ALLELE_END GT 1|0 1|0 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75874667 rs71579379 A T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19523;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579379;CLNALLELEID=54775;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.005;ExAC_nontcga_SAS=0.0013;AF=0.0027;AF_popmax=0.0043;AF_male=0.0025;AF_female=0.0031;AF_raw=0.0027;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0026;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.871381;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439094 rs45481892 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19433;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45481892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0021;AF_popmax=0.0038;AF_male=0.0025;AF_female=0.0017;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0017141;Kaviar_AC=265;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1768642|N/A|MITF|PAZAR,OREG1861631|N/A|SPI1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.456162;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439175 rs200645175 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20362;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon2:c.G145C:p.V49L,LDB3:NM_001080115:exon2:c.G145C:p.V49L,LDB3:NM_001080116:exon2:c.G145C:p.V49L,LDB3:NM_001171611:exon2:c.G145C:p.V49L,LDB3:NM_007078:exon2:c.G145C:p.V49L,LDB3:NM_001171610:exon3:c.G145C:p.V49L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200645175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.017;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.851;Polyphen2_HVAR_rankscore=0.656;Polyphen2_HVAR_pred=P;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.2;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.538;VEST3_rankscore=0.601;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.151;MetaLR_rankscore=0.480;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.538;M-CAP_pred=D;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.907;CADD_raw_rankscore=0.810;CADD_phred=27.5;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.637;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.535;Eigen-PC-raw=0.615;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.391;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=7.323;phyloP100way_vertebrate_rankscore=0.782;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=19.726;SiPhy_29way_logOdds_rankscore=0.961;Interpro_domain=PDZ_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.485e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.816619;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439866 rs45613039 G A 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=19534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0215;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon3:c.G273A:p.T91T,LDB3:NM_001080115:exon3:c.G273A:p.T91T,LDB3:NM_001080116:exon3:c.G273A:p.T91T,LDB3:NM_001171611:exon3:c.G273A:p.T91T,LDB3:NM_007078:exon3:c.G273A:p.T91T,LDB3:NM_001171610:exon4:c.G273A:p.T91T;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45613039;CLNALLELEID=54708;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0200;AF=6.373e-05;AF_popmax=6.487e-05;AF_male=0.0001;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0024644;Kaviar_AC=381;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.713696;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88440018 rs45598635 G A 100 PASS AC=9;AF=0.0726837;AN=214;NS=2504;DP=16539;EAS_AF=0.0268;AMR_AF=0.1585;AFR_AF=0.0666;EUR_AF=0.0358;SAS_AF=0.1053;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0726837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45598635;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0546;AF_popmax=0.1611;AF_male=0.0537;AF_female=0.0556;AF_raw=0.0548;AF_afr=0.0830;AF_sas=.;AF_amr=0.1611;AF_eas=0.0193;AF_nfe=0.0365;AF_fin=0.0567;AF_asj=0.0207;AF_oth=0.0525;non_topmed_AF_popmax=0.1650;non_neuro_AF_popmax=0.1418;non_cancer_AF_popmax=.;controls_AF_popmax=0.1463;Kaviar_AF=0.0571692;Kaviar_AC=1488;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441223 rs35507268 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=15087;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.G352A:p.V118M,LDB3:NM_001171611:exon4:c.G352A:p.V118M,LDB3:NM_007078:exon4:c.G352A:p.V118M,LDB3:NM_001171610:exon5:c.G352A:p.V118M;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35507268;CLNALLELEID=54710;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.171;SIFT_converted_rankscore=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.351;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.459;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.06;VEST3_rankscore=0.049;MetaSVM_score=-0.991;MetaSVM_rankscore=0.324;MetaSVM_pred=T;MetaLR_score=0.067;MetaLR_rankscore=0.275;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.651;M-CAP_pred=D;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.436;CADD_raw_rankscore=0.235;CADD_phred=12.98;DANN_score=0.997;DANN_rankscore=0.829;fathmm-MKL_coding_score=0.073;fathmm-MKL_coding_rankscore=0.132;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.607;Eigen-PC-raw=-0.570;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.405;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=0.298;GERP++_RS_rankscore=0.149;phyloP100way_vertebrate=0.090;phyloP100way_vertebrate_rankscore=0.147;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.026;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.309;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=5.423;SiPhy_29way_logOdds_rankscore=0.156;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0052;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0046;AF_popmax=0.0067;AF_male=0.0041;AF_female=0.0052;AF_raw=0.0046;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0060;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0081;non_neuro_AF_popmax=0.0067;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1176609|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.840456;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441269 rs200239096 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14772;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C398T:p.P133L,LDB3:NM_001171611:exon4:c.C398T:p.P133L,LDB3:NM_007078:exon4:c.C398T:p.P133L,LDB3:NM_001171610:exon5:c.C398T:p.P133L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200239096;CLNALLELEID=198313;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.198;SIFT_converted_rankscore=0.205;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.401;LRT_converted_rankscore=0.131;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.52;MutationAssessor_score_rankscore=0.136;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_converted_rankscore=0.542;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.026;MetaSVM_score=-1.025;MetaSVM_rankscore=0.222;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.334;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.612;M-CAP_pred=D;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.218;CADD_raw_rankscore=0.024;CADD_phred=0.006;DANN_score=0.644;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.131;Eigen-PC-raw=-1.189;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=-3.25;GERP++_RS_rankscore=0.047;phyloP100way_vertebrate=-0.714;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-0.598;phyloP20way_mammalian_rankscore=0.044;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=12.752;SiPhy_29way_logOdds_rankscore=0.565;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.869e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.588e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.375e-05;AF_popmax=0.0012;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1176609|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.519844;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441437 rs45487699 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=16024;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C566T:p.S189L,LDB3:NM_001171611:exon4:c.C566T:p.S189L,LDB3:NM_007078:exon4:c.C566T:p.S189L,LDB3:NM_001171610:exon5:c.C566T:p.S189L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45487699;CLNALLELEID=19770;CLNDN=Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.68;SIFT_converted_rankscore=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.439;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.355;Polyphen2_HVAR_pred=B;LRT_score=0.843;LRT_converted_rankscore=0.070;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.245;MutationTaster_pred=A;MutationAssessor_score=2.28;MutationAssessor_score_rankscore=0.651;MutationAssessor_pred=M;FATHMM_score=0.85;FATHMM_converted_rankscore=0.527;FATHMM_pred=T;PROVEAN_score=-0.91;PROVEAN_converted_rankscore=0.264;PROVEAN_pred=N;VEST3_score=0.558;VEST3_rankscore=0.763;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.113;MetaLR_rankscore=0.403;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.449;M-CAP_pred=T;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.083;CADD_raw_rankscore=0.198;CADD_phred=11.12;DANN_score=0.995;DANN_rankscore=0.700;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.409;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.295;Eigen-PC-raw=-0.298;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.82;GERP++_RS_rankscore=0.430;phyloP100way_vertebrate=3.324;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=-0.021;phyloP20way_mammalian_rankscore=0.129;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.486;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0007;AF=0.0004;AF_popmax=0.0005;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.723768;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441527 rs530979771 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18774;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.G656A:p.R219Q,LDB3:NM_001171611:exon4:c.G656A:p.R219Q,LDB3:NM_007078:exon4:c.G656A:p.R219Q,LDB3:NM_001171610:exon5:c.G656A:p.R219Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530979771;CLNALLELEID=175034;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.265;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.945;Polyphen2_HVAR_rankscore=0.664;Polyphen2_HVAR_pred=D;LRT_score=0.239;LRT_converted_rankscore=0.157;LRT_pred=N;MutationTaster_score=0.586;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.415;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_converted_rankscore=0.505;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.287;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.225;MetaSVM_score=-0.844;MetaSVM_rankscore=0.524;MetaSVM_pred=T;MetaLR_score=0.158;MetaLR_rankscore=0.492;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.498;M-CAP_pred=D;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.708;CADD_raw_rankscore=0.631;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.818;fathmm-MKL_coding_rankscore=0.408;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.114;Eigen-PC-raw=0.006;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=2.370;phyloP100way_vertebrate_rankscore=0.436;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.485;SiPhy_29way_logOdds_rankscore=0.211;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.982e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.583e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898982;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88445385 rs3740345 G C 100 PASS AC=150;AF=0.624201;AN=214;NS=2504;DP=17390;EAS_AF=0.4702;AMR_AF=0.5144;AFR_AF=0.5885;EUR_AF=0.7406;SAS_AF=0.7894;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.624201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3740345;CLNALLELEID=253888;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7528;ExAC_nontcga_ALL=0.6830;ExAC_nontcga_AFR=0.5932;ExAC_nontcga_AMR=0.4728;ExAC_nontcga_EAS=0.4525;ExAC_nontcga_FIN=0.6472;ExAC_nontcga_NFE=0.7435;ExAC_nontcga_OTH=0.6971;ExAC_nontcga_SAS=0.7964;AF=0.6679;AF_popmax=0.7450;AF_male=0.6653;AF_female=0.6712;AF_raw=0.6673;AF_afr=0.5815;AF_sas=.;AF_amr=0.5354;AF_eas=0.4626;AF_nfe=0.7450;AF_fin=0.6506;AF_asj=0.7517;AF_oth=0.6946;non_topmed_AF_popmax=0.7438;non_neuro_AF_popmax=0.7461;non_cancer_AF_popmax=.;controls_AF_popmax=0.7476;Kaviar_AF=0.0040297;Kaviar_AC=623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.723784;ALLELE_END GT 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 1|0 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 1|0 +10 88446811 rs113445294 G A 100 PASS AC=9;AF=0.0613019;AN=214;NS=2504;DP=16776;EAS_AF=0.005;AMR_AF=0.0259;AFR_AF=0.1664;EUR_AF=0.0288;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0613019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113445294;CLNALLELEID=53044;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0396;ExAC_nontcga_ALL=0.0409;ExAC_nontcga_AFR=0.1550;ExAC_nontcga_AMR=0.0222;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0316;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0338;AF=0.0682;AF_popmax=0.1456;AF_male=0.0662;AF_female=0.0707;AF_raw=0.0682;AF_afr=0.1456;AF_sas=.;AF_amr=0.0271;AF_eas=0.0019;AF_nfe=0.0408;AF_fin=0.0395;AF_asj=0.0448;AF_oth=0.0616;non_topmed_AF_popmax=0.1451;non_neuro_AF_popmax=0.1473;non_cancer_AF_popmax=.;controls_AF_popmax=0.1483;Kaviar_AF=0.0407369;Kaviar_AC=6298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.516757;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88446830 rs121908338 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=17665;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0227;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.G349A:p.D117N,LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001171611:exon5:c.G694A:p.D232N,LDB3:NM_001171610:exon6:c.G694A:p.D232N;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121908338;CLNALLELEID=19772;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_rankscore=0.398;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_rankscore=0.340;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.031;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.89;FATHMM_converted_rankscore=0.889;FATHMM_pred=T;PROVEAN_score=-1.19;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.080;MetaSVM_score=-0.543;MetaSVM_rankscore=0.671;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_rankscore=0.583;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.272;REVEL_rankscore=0.592;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.591;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.855;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.987;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.143;Eigen-PC-raw=0.058;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=6.872;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=14.523;SiPhy_29way_logOdds_rankscore=0.673;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0154;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0031;AF=0.0058;AF_popmax=0.0136;AF_male=0.0064;AF_female=0.0052;AF_raw=0.0059;AF_afr=0.0136;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0064;non_topmed_AF_popmax=0.0135;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0042173;Kaviar_AC=652;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869135;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88446985 rs76615432 T C 100 PASS AC=9;AF=0.0567093;AN=214;NS=2504;DP=20082;EAS_AF=0.005;AMR_AF=0.0245;AFR_AF=0.1498;EUR_AF=0.0288;SAS_AF=0.0358;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T504C:p.D168D,LDB3:NM_001080116:exon5:c.T504C:p.D168D,LDB3:NM_001171611:exon5:c.T849C:p.D283D,LDB3:NM_001171610:exon6:c.T849C:p.D283D;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76615432;CLNALLELEID=53048;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0407;ExAC_nontcga_ALL=0.0398;ExAC_nontcga_AFR=0.1435;ExAC_nontcga_AMR=0.0210;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0316;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.0578;ExAC_nontcga_SAS=0.0336;AF=0.0694;AF_popmax=0.15;AF_male=0.0665;AF_female=0.0731;AF_raw=0.0695;AF_afr=0.15;AF_sas=.;AF_amr=0.0295;AF_eas=0.0019;AF_nfe=0.0410;AF_fin=0.0394;AF_asj=0.0448;AF_oth=0.0579;non_topmed_AF_popmax=0.1494;non_neuro_AF_popmax=0.1508;non_cancer_AF_popmax=.;controls_AF_popmax=0.1569;Kaviar_AF=0.0406657;Kaviar_AC=6287;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0568182::-0.478883;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.899103;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88447076 rs116080654 A T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=17933;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0098;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116080654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0026;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0041;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0021863;Kaviar_AC=338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.306648;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88447082 rs111941601 A C 100 PASS AC=9;AF=0.0439297;AN=214;NS=2504;DP=17744;EAS_AF=0.005;AMR_AF=0.0216;AFR_AF=0.1029;EUR_AF=0.0288;SAS_AF=0.0358;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111941601;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0527;AF_popmax=0.0908;AF_male=0.0498;AF_female=0.0564;AF_raw=0.0527;AF_afr=0.0908;AF_sas=.;AF_amr=0.0259;AF_eas=0.0019;AF_nfe=0.0407;AF_fin=0.0395;AF_asj=0.0448;AF_oth=0.0551;non_topmed_AF_popmax=0.0903;non_neuro_AF_popmax=0.0919;non_cancer_AF_popmax=.;controls_AF_popmax=0.0946;Kaviar_AF=0.0073026;Kaviar_AC=1129;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0435606::-0.553228;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534907;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88451649 rs45529531 A G 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=19643;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0151;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45529531;CLNALLELEID=45111;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0030;AF_popmax=0.0054;AF_male=0.0031;AF_female=0.0028;AF_raw=0.0030;AF_afr=0.0054;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0053;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0026002;Kaviar_AC=402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.150170;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88451715 rs34423165 A G 100 PASS AC=1;AF=0.0171725;AN=214;NS=2504;DP=19602;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.0484;EUR_AF=0.001;SAS_AF=0.0184;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon5:c.A752G:p.K251R,LDB3:NM_007078:exon5:c.A752G:p.K251R,LDB3:NM_001080114:exon6:c.A611G:p.K204R,LDB3:NM_001080116:exon6:c.A611G:p.K204R,LDB3:NM_001171611:exon6:c.A956G:p.K319R,LDB3:NM_001171610:exon7:c.A956G:p.K319R;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34423165;CLNALLELEID=45112;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.069;SIFT_converted_rankscore=0.355;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_converted_rankscore=0.338;LRT_pred=N;MutationTaster_score=0.963;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.03;MutationAssessor_score_rankscore=0.557;MutationAssessor_pred=M;FATHMM_score=-2.03;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-1.19;PROVEAN_converted_rankscore=0.320;PROVEAN_pred=N;VEST3_score=0.575;VEST3_rankscore=0.714;MetaSVM_score=-0.191;MetaSVM_rankscore=0.779;MetaSVM_pred=T;MetaLR_score=0.296;MetaLR_rankscore=0.667;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.392;REVEL_rankscore=0.711;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.610;CADD_raw_rankscore=0.491;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.925;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.553;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.487;Eigen-PC-raw=0.504;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=4.145;phyloP100way_vertebrate_rankscore=0.576;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=16.323;SiPhy_29way_logOdds_rankscore=0.827;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bDomain_of_unknown_function_DUF4749|Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0107;AF=0.0152;AF_popmax=0.0518;AF_male=0.0146;AF_female=0.0159;AF_raw=0.0152;AF_afr=0.0518;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0515;non_neuro_AF_popmax=0.0533;non_cancer_AF_popmax=.;controls_AF_popmax=0.0514;Kaviar_AF=0.0063195;Kaviar_AC=977;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835354;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88451869 rs3740346 G C 100 PASS AC=34;AF=0.241214;AN=214;NS=2504;DP=18921;EAS_AF=0.6111;AMR_AF=0.2291;AFR_AF=0.0832;EUR_AF=0.1143;SAS_AF=0.2127;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.241214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3740346;CLNALLELEID=253890;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1154;ExAC_nontcga_ALL=0.1894;ExAC_nontcga_AFR=0.0873;ExAC_nontcga_AMR=0.2801;ExAC_nontcga_EAS=0.6384;ExAC_nontcga_FIN=0.1943;ExAC_nontcga_NFE=0.1311;ExAC_nontcga_OTH=0.1930;ExAC_nontcga_SAS=0.1629;AF=0.1561;AF_popmax=0.6559;AF_male=0.1590;AF_female=0.1523;AF_raw=0.1564;AF_afr=0.0954;AF_sas=.;AF_amr=0.2205;AF_eas=0.6559;AF_nfe=0.1274;AF_fin=0.1915;AF_asj=0.1552;AF_oth=0.1710;non_topmed_AF_popmax=0.6565;non_neuro_AF_popmax=0.6559;non_cancer_AF_popmax=.;controls_AF_popmax=0.6524;Kaviar_AF=0.174124;Kaviar_AC=26920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.097764;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 +10 88452190 rs45471403 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18014;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45471403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0032;AF_male=0.0025;AF_female=0.0033;AF_raw=0.0029;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0084;AF_asj=0.0034;AF_oth=0.0065;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88452258 rs45541241 G A 100 PASS AC=6;AF=0.00259585;AN=214;NS=2504;DP=18770;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45541241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0021;AF_popmax=0.0047;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0002;AF_sas=.;AF_amr=0.0047;AF_eas=0.0006;AF_nfe=0.0027;AF_fin=0.0029;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0036934;Kaviar_AC=571;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.713266;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +10 88458996 rs199946071;rs564999333;rs560832183;rs560183948;rs559013712;rs554580693 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 100 PASS AC=2,78,25,37,1;AF=0.0307508,0.252396,0.109824,0.36262,0.0501198;AN=214;NS=2504;DP=20061;EAS_AF=0.0744,0.2034,0.0248,0.5069,0.0575;AMR_AF=0.0216,0.3401,0.1081,0.3156,0.0288;AFR_AF=0.0378,0.1263,0.1823,0.5015,0.1067;EUR_AF=0.0099,0.3688,0.1312,0.171,0.003;SAS_AF=0.0041,0.2914,0.0787,0.2566,0.0297;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199946071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009961;Kaviar_AC=154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696200;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455,99.696200;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0501198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554580693;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0614;ExAC_nontcga_AFR=0.1655;ExAC_nontcga_AMR=0.0795;ExAC_nontcga_EAS=0.2163;ExAC_nontcga_FIN=0.0297;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0371;ExAC_nontcga_SAS=0.0429;AF=0.0022;AF_popmax=0.0098;AF_male=0.0018;AF_female=0.0028;AF_raw=0.0079;AF_afr=0.0036;AF_sas=.;AF_amr=0.0098;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0041;AF_asj=0.0036;AF_oth=0.0071;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0061;non_cancer_AF_popmax=.;controls_AF_popmax=0.0161;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455,99.696200;ALLELE_END GT 0|2 2|3 0|4 2|0 0|0 2|0 0|4 0|2 4|2 0|2 0|2 0|2 2|2 4|2 0|0 0|2 4|4 2|0 4|2 2|4 0|4 0|2 4|3 2|2 4|0 0|2 2|2 0|4 2|4 0|2 4|1 0|4 0|2 3|0 2|0 4|2 0|2 3|0 0|0 4|2 0|0 2|4 0|0 2|0 2|3 3|0 2|0 2|4 3|0 4|2 0|2 2|0 2|3 2|0 2|0 2|0 2|0 3|2 4|0 2|3 0|2 4|5 0|2 2|0 2|3 3|4 3|2 2|0 4|0 2|0 0|4 0|2 4|2 0|2 2|0 3|2 0|1 2|3 0|2 4|0 4|2 2|4 0|2 0|2 0|2 4|0 3|2 3|0 2|0 4|4 2|0 3|2 3|2 0|2 3|2 4|2 4|2 2|3 2|0 4|0 4|0 3|2 3|2 2|0 3|3 4|2 0|0 +10 88459000 rs200885020 C G 100 PASS AC=2;AF=0.0301518;AN=214;NS=2504;DP=18049;EAS_AF=0.0724;AMR_AF=0.0216;AFR_AF=0.0378;EUR_AF=0.0089;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200885020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696200;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459002 rs201929738 C T 100 PASS AC=2;AF=0.0301518;AN=214;NS=2504;DP=18098;EAS_AF=0.0724;AMR_AF=0.0216;AFR_AF=0.0378;EUR_AF=0.0089;SAS_AF=0.0041;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201929738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459050 rs144445130 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18854;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.G912A:p.T304T,LDB3:NM_001080116:exon8:c.G771A:p.T257T,LDB3:NM_001171611:exon8:c.G1116A:p.T372T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144445130;CLNALLELEID=53053;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0032;AF=0.0002;AF_popmax=0.0005;AF_male=0.0004;AF_female=0;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.910619;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459055 rs557033441 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18619;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.G917A:p.R306H,LDB3:NM_001080116:exon8:c.G776A:p.R259H,LDB3:NM_001171611:exon8:c.G1121A:p.R374H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557033441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.286;SIFT_converted_rankscore=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.385;Polyphen2_HDIV_rankscore=0.596;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.104;Polyphen2_HVAR_rankscore=0.514;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.13;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-0.7;PROVEAN_converted_rankscore=0.199;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.265;MetaSVM_score=-0.970;MetaSVM_rankscore=0.372;MetaSVM_pred=T;MetaLR_score=0.136;MetaLR_rankscore=0.453;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.278;M-CAP_pred=T;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=0.315;MutPred_rankscore=0.292;CADD_raw=2.444;CADD_raw_rankscore=0.355;CADD_phred=19.11;DANN_score=0.999;DANN_rankscore=0.972;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.202;Eigen-PC-raw=0.270;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=4.903;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.673;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.894e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.195e-05;AF_popmax=0.0001;AF_male=5.741e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.933432;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459066 rs377201153 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18504;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.C928T:p.R310C,LDB3:NM_001080116:exon8:c.C787T:p.R263C,LDB3:NM_001171611:exon8:c.C1132T:p.R378C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377201153;CLNALLELEID=195922;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_provided;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.83;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.455;VEST3_rankscore=0.567;MetaSVM_score=-0.457;MetaSVM_rankscore=0.702;MetaSVM_pred=T;MetaLR_score=0.301;MetaLR_rankscore=0.673;MetaLR_pred=T;M-CAP_score=0.053;M-CAP_rankscore=0.654;M-CAP_pred=D;REVEL_score=0.227;REVEL_rankscore=0.531;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.712;CADD_raw_rankscore=0.387;CADD_phred=20.9;DANN_score=0.999;DANN_rankscore=0.984;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.725;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.789;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.06;GERP++_RS_rankscore=0.677;phyloP100way_vertebrate=7.196;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.629;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=5.734e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.888298;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88466465 rs45459491 C T 100 PASS AC=12;AF=0.0201677;AN=214;NS=2504;DP=18021;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0368;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_007078:exon7:c.C1074T:p.A358A;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45459491;CLNALLELEID=45106;CLNDN=Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0369;ExAC_nontcga_ALL=0.0398;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0141;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0319;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0280;ExAC_nontcga_SAS=0.0616;AF=0.0312;AF_popmax=0.0485;AF_male=0.0311;AF_female=0.0313;AF_raw=0.0313;AF_afr=0.0077;AF_sas=.;AF_amr=0.0189;AF_eas=0.0006;AF_nfe=0.0485;AF_fin=0.0265;AF_asj=0.0103;AF_oth=0.0479;non_topmed_AF_popmax=0.0531;non_neuro_AF_popmax=0.0477;non_cancer_AF_popmax=.;controls_AF_popmax=0.0577;Kaviar_AF=0.0339388;Kaviar_AC=5247;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.132953;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 +10 88469831 rs45477098 G A 100 PASS AC=2;AF=0.00698882;AN=214;NS=2504;DP=14801;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0166;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45477098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0154;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0035;AF=0.0107;AF_popmax=0.0127;AF_male=0.0110;AF_female=0.0103;AF_raw=0.0107;AF_afr=0.0114;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0127;AF_fin=0.0046;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0146;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0064747;Kaviar_AC=1001;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.207180;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88469837 rs11597201 C G 100 PASS AC=6;AF=0.0385383;AN=214;NS=2504;DP=14779;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0991;EUR_AF=0.0229;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11597201;CLNALLELEID=253891;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0357;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.1121;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0220;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.05;ExAC_nontcga_SAS=0.0278;AF=0.0537;AF_popmax=0.1041;AF_male=0.0536;AF_female=0.0538;AF_raw=0.0537;AF_afr=0.1041;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0399;AF_fin=0.0247;AF_asj=0.0483;AF_oth=0.0432;non_topmed_AF_popmax=0.1045;non_neuro_AF_popmax=0.0979;non_cancer_AF_popmax=.;controls_AF_popmax=0.0960;Kaviar_AF=0.0324575;Kaviar_AC=5018;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.207180;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88476105 rs141870580 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8283;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.C923G:p.P308R,LDB3:NM_007078:exon9:c.C1253G:p.P418R,LDB3:NM_001171610:exon10:c.C1268G:p.P423R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141870580;CLNALLELEID=397602;CLNDN=Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.126;SIFT_converted_rankscore=0.682;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.857;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.394;LRT_converted_rankscore=0.132;LRT_pred=N;MutationTaster_score=0.779;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=0.79;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-1.82;PROVEAN_converted_rankscore=0.466;PROVEAN_pred=N;VEST3_score=0.504;VEST3_rankscore=0.610;MetaSVM_score=-0.786;MetaSVM_rankscore=0.560;MetaSVM_pred=T;MetaLR_score=0.245;MetaLR_rankscore=0.614;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.279;M-CAP_pred=T;REVEL_score=0.160;REVEL_rankscore=0.420;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.244;CADD_raw_rankscore=0.569;CADD_phred=23.9;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.400;Eigen-PC-raw=0.362;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=1.343;phyloP100way_vertebrate_rankscore=0.333;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=11.058;SiPhy_29way_logOdds_rankscore=0.470;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.961e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.752876;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88477932 rs149127817 CAT C 100 PASS AC=1;AF=0.00798722;AN=214;NS=2504;DP=20872;EAS_AF=0.0278;AMR_AF=0;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0.0031;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149127817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0242;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0032;AF=0.0025;AF_popmax=0.0256;AF_male=0.0029;AF_female=0.0020;AF_raw=0.0025;AF_afr=0.0044;AF_sas=.;AF_amr=0;AF_eas=0.0256;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0263;non_neuro_AF_popmax=0.0256;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0024321;Kaviar_AC=376;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88485858 rs45529243 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=18448;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0106;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45529243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0089;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0;AF=0.0031;AF_popmax=0.0077;AF_male=0.0035;AF_female=0.0025;AF_raw=0.0031;AF_afr=0.0077;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.002044;Kaviar_AC=316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92672564 rs3939 T C 100 PASS AC=92;AF=0.354233;AN=214;NS=2504;DP=18743;EAS_AF=0.373;AMR_AF=0.4813;AFR_AF=0.1581;EUR_AF=0.4573;SAS_AF=0.4039;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=ANKRD1;GeneDetail.refGene=NM_014391:c.*59A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.354233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3939;CLNALLELEID=323274;CLNDN=Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3920;AF_popmax=0.4846;AF_male=0.3847;AF_female=0.4010;AF_raw=0.3919;AF_afr=0.2072;AF_sas=.;AF_amr=0.4846;AF_eas=0.3243;AF_nfe=0.4788;AF_fin=0.4491;AF_asj=0.4690;AF_oth=0.4603;non_topmed_AF_popmax=0.4913;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.4827;Kaviar_AF=0.0868359;Kaviar_AC=13425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +10 92675649 rs3839929 GA G 100 PASS AC=39;AF=0.178714;AN=214;NS=2504;DP=13104;EAS_AF=0.1637;AMR_AF=0.1542;AFR_AF=0.2451;EUR_AF=0.1571;SAS_AF=0.1442;AA=AAAA|AAAA|AAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.178714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3839929;CLNALLELEID=198340;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1575;ExAC_nontcga_ALL=0.1628;ExAC_nontcga_AFR=0.2429;ExAC_nontcga_AMR=0.1148;ExAC_nontcga_EAS=0.1695;ExAC_nontcga_FIN=0.1637;ExAC_nontcga_NFE=0.1653;ExAC_nontcga_OTH=0.1440;ExAC_nontcga_SAS=0.1397;AF=0.1799;AF_popmax=0.2212;AF_male=0.1806;AF_female=0.1789;AF_raw=0.1802;AF_afr=0.2212;AF_sas=.;AF_amr=0.1274;AF_eas=0.1556;AF_nfe=0.1706;AF_fin=0.1563;AF_asj=0.0862;AF_oth=0.1565;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2268;non_cancer_AF_popmax=.;controls_AF_popmax=0.225;Kaviar_AF=0.0044243;Kaviar_AC=684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 +10 92675857 rs150275749 G A 100 PASS AC=16;AF=0.0621006;AN=214;NS=2504;DP=3548;EAS_AF=0.003;AMR_AF=0.036;AFR_AF=0.1203;EUR_AF=0.0477;SAS_AF=0.0777;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150275749;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0349;AF_popmax=0.0697;AF_male=0.0367;AF_female=0.0325;AF_raw=0.0491;AF_afr=0.0697;AF_sas=.;AF_amr=0.0349;AF_eas=0;AF_nfe=0.0270;AF_fin=0.0158;AF_asj=0.0701;AF_oth=0.0244;non_topmed_AF_popmax=0.0688;non_neuro_AF_popmax=0.0731;non_cancer_AF_popmax=.;controls_AF_popmax=0.0784;Kaviar_AF=0.005194;Kaviar_AC=803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +10 92678728 rs142354133 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=10544;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANKRD1:NM_014391:exon4:c.C347T:p.T116M;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142354133;CLNALLELEID=229953;CLNDN=ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119551|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.121;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.771;Polyphen2_HDIV_rankscore=0.420;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.507;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.400;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.495;MutationTaster_pred=D;MutationAssessor_score=1.64;MutationAssessor_score_rankscore=0.420;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.761;VEST3_rankscore=0.759;MetaSVM_score=-0.724;MetaSVM_rankscore=0.593;MetaSVM_pred=T;MetaLR_score=0.213;MetaLR_rankscore=0.574;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.468;M-CAP_pred=T;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.758;CADD_raw_rankscore=0.509;CADD_phred=23.3;DANN_score=0.995;DANN_rankscore=0.704;fathmm-MKL_coding_score=0.850;fathmm-MKL_coding_rankscore=0.438;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.314;Eigen-PC-raw=0.421;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.628;integrated_fitCons_score_rankscore=0.401;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=3.366;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=13.076;SiPhy_29way_logOdds_rankscore=0.583;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9791;dbscSNV_RF_SCORE=0.746;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=0;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0006;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.883274;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678744 rs11595794 A T 100 PASS AC=170;AF=0.810104;AN=214;NS=2504;DP=8091;EAS_AF=0.7857;AMR_AF=0.8746;AFR_AF=0.8555;EUR_AF=0.7614;SAS_AF=0.7781;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.810104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11595794;CLNALLELEID=140106;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.0187;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0.0090;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.0485;AF=0.0061;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0061;AF_raw=0.0096;AF_afr=0.0040;AF_sas=.;AF_amr=0.0032;AF_eas=0.0008;AF_nfe=0.0083;AF_fin=0.0020;AF_asj=0.0076;AF_oth=0.0068;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0436799;Kaviar_AC=6753;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 +10 92678747 rs200503746 A G 100 PASS AC=92;AF=0.357827;AN=214;NS=2504;DP=7562;EAS_AF=0.3681;AMR_AF=0.4885;AFR_AF=0.1604;EUR_AF=0.4622;SAS_AF=0.4141;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.357827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200503746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0116881;Kaviar_AC=1807;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +10 92678748 rs10881854 A T 100 PASS AC=169;AF=0.784545;AN=214;NS=2504;DP=7316;EAS_AF=0.7351;AMR_AF=0.8573;AFR_AF=0.8162;EUR_AF=0.7604;SAS_AF=0.7658;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.784545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10881854;CLNALLELEID=140105;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0586;ExAC_nontcga_AFR=0.0277;ExAC_nontcga_AMR=0.0167;ExAC_nontcga_EAS=0.0592;ExAC_nontcga_FIN=0.008;ExAC_nontcga_NFE=0.0446;ExAC_nontcga_OTH=0.1296;ExAC_nontcga_SAS=0.0982;AF=0.0552;AF_popmax=0.0736;AF_male=0.0561;AF_female=0.0540;AF_raw=0.0698;AF_afr=0.0736;AF_sas=.;AF_amr=0.0223;AF_eas=0.0350;AF_nfe=0.0602;AF_fin=0.0064;AF_asj=0.0365;AF_oth=0.0404;non_topmed_AF_popmax=0.0732;non_neuro_AF_popmax=0.0777;non_cancer_AF_popmax=.;controls_AF_popmax=0.0775;Kaviar_AF=0.0038874;Kaviar_AC=601;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 +10 92678761 rs571594500 A C 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7734;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571594500;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678762 rs534258222 T A 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7230;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534258222;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678764 rs199889145 T A 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7515;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199889145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678765 rs56177217 A G 100 PASS AC=112;AF=0.441094;AN=214;NS=2504;DP=7755;EAS_AF=0.4355;AMR_AF=0.6124;AFR_AF=0.2247;EUR_AF=0.5408;SAS_AF=0.5153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.441094;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56177217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6451;ExAC_nontcga_AFR=0.4866;ExAC_nontcga_AMR=0.7004;ExAC_nontcga_EAS=0.6590;ExAC_nontcga_FIN=0.6581;ExAC_nontcga_NFE=0.6760;ExAC_nontcga_OTH=0.6310;ExAC_nontcga_SAS=0.5527;AF=0.4698;AF_popmax=0.6295;AF_male=0.4584;AF_female=0.4842;AF_raw=0.4337;AF_afr=0.2454;AF_sas=.;AF_amr=0.6295;AF_eas=0.3423;AF_nfe=0.5533;AF_fin=0.6573;AF_asj=0.5037;AF_oth=0.5563;non_topmed_AF_popmax=0.6465;non_neuro_AF_popmax=0.5893;non_cancer_AF_popmax=.;controls_AF_popmax=0.7143;Kaviar_AF=0.428274;Kaviar_AC=66212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 +10 92678789 rs191952911 T C 100 PASS AC=5;AF=0.00319489;AN=214;NS=2504;DP=10311;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191952911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0062;AF_popmax=0.0085;AF_male=0.0062;AF_female=0.0062;AF_raw=0.0061;AF_afr=0.0019;AF_sas=.;AF_amr=0.0039;AF_eas=0;AF_nfe=0.0085;AF_fin=0.0081;AF_asj=0.0070;AF_oth=0.0090;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0014036;Kaviar_AC=217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92680886 rs549813663 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15864;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=ANKRD1;GeneDetail.refGene=NM_014391:c.-102C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549813663;CLNALLELEID=317252;CLNDN=Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0012;AF_male=0.0002;AF_female=7.179e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1645377|N/A|FOXA1|PAZAR,OREG1180501|N/A|TFAP2C|PAZAR,OREG1586947|N/A|FOXA1|PAZAR,OREG1670379|N/A|GATA2|PAZAR,OREG1891617|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.369042;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 101473218 rs2231687 A G 100 PASS AC=188;AF=0.827077;AN=214;NS=2504;DP=17799;EAS_AF=0.7817;AMR_AF=0.8746;AFR_AF=0.7542;EUR_AF=0.8787;SAS_AF=0.8855;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=COX15:NM_004376:exon9:c.T1120C:p.F374L;1000g2015aug_all=0.827077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231687;CLNALLELEID=134284;CLNDN=Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=0.62;PROVEAN_converted_rankscore=0.024;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-1.050;MetaSVM_rankscore=0.144;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.914;CADD_raw_rankscore=0.181;CADD_phred=10.16;DANN_score=0.868;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.076;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.860;Eigen-PC-raw=-0.946;GenoCanyon_score=0.983;GenoCanyon_score_rankscore=0.305;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.947;GERP++_RS_rankscore=0.186;phyloP100way_vertebrate=0.011;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=0.854;phyloP20way_mammalian_rankscore=0.373;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.252;phastCons20way_mammalian_rankscore=0.228;SiPhy_29way_logOdds=3.913;SiPhy_29way_logOdds_rankscore=0.086;Interpro_domain=.;GTEx_V6p_gene=ENSG00000155287.6|ENSG00000198018.6|ENSG00000198018.6;GTEx_V6p_tissue=Adrenal_Gland|Cells_Transformed_fibroblasts|Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8733;ExAC_nontcga_ALL=0.8610;ExAC_nontcga_AFR=0.7624;ExAC_nontcga_AMR=0.8994;ExAC_nontcga_EAS=0.7742;ExAC_nontcga_FIN=0.8872;ExAC_nontcga_NFE=0.8731;ExAC_nontcga_OTH=0.8642;ExAC_nontcga_SAS=0.8799;AF=0.8429;AF_popmax=0.8874;AF_male=0.8379;AF_female=0.8492;AF_raw=0.8423;AF_afr=0.7600;AF_sas=.;AF_amr=0.8874;AF_eas=0.7880;AF_nfe=0.8812;AF_fin=0.8857;AF_asj=0.8241;AF_oth=0.8748;non_topmed_AF_popmax=0.8871;non_neuro_AF_popmax=0.8825;non_cancer_AF_popmax=.;controls_AF_popmax=0.9065;Kaviar_AF=0.843488;Kaviar_AC=130405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 +10 101474499 rs11190255 T C 100 PASS AC=50;AF=0.233427;AN=214;NS=2504;DP=19160;EAS_AF=0.2956;AMR_AF=0.2147;AFR_AF=0.1853;EUR_AF=0.3022;SAS_AF=0.1769;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11190255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2957;ExAC_nontcga_ALL=0.2547;ExAC_nontcga_AFR=0.1859;ExAC_nontcga_AMR=0.2094;ExAC_nontcga_EAS=0.2942;ExAC_nontcga_FIN=0.3486;ExAC_nontcga_NFE=0.2825;ExAC_nontcga_OTH=0.2254;ExAC_nontcga_SAS=0.1762;AF=0.2816;AF_popmax=0.3223;AF_male=0.2754;AF_female=0.2893;AF_raw=0.2815;AF_afr=0.1890;AF_sas=.;AF_amr=0.2005;AF_eas=0.3185;AF_nfe=0.3223;AF_fin=0.3396;AF_asj=0.1538;AF_oth=0.3054;non_topmed_AF_popmax=0.3312;non_neuro_AF_popmax=0.3249;non_cancer_AF_popmax=.;controls_AF_popmax=0.3645;Kaviar_AF=0.256614;Kaviar_AC=39673;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.248106::0.387049;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 +10 101487354 rs78915941 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19790;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78915941;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0022;AF_male=0.0012;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0022;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112404302 rs35141404 G A 100 PASS AC=32;AF=0.222244;AN=214;NS=2504;DP=7996;EAS_AF=0.1617;AMR_AF=0.1354;AFR_AF=0.4206;EUR_AF=0.1392;SAS_AF=0.1636;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon1:c.G90A:p.R30R;1000g2015aug_all=0.222244;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35141404;CLNALLELEID=53197;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1482;ExAC_nontcga_AFR=0.4244;ExAC_nontcga_AMR=0.1695;ExAC_nontcga_EAS=0.1429;ExAC_nontcga_FIN=0.4;ExAC_nontcga_NFE=0.1268;ExAC_nontcga_OTH=0.1339;ExAC_nontcga_SAS=0.1378;AF=0.2004;AF_popmax=0.3740;AF_male=0.2022;AF_female=0.1981;AF_raw=0.2002;AF_afr=0.3740;AF_sas=.;AF_amr=0.1132;AF_eas=0.1568;AF_nfe=0.1405;AF_fin=0.1016;AF_asj=0.1181;AF_oth=0.1308;non_topmed_AF_popmax=0.3739;non_neuro_AF_popmax=0.3737;non_cancer_AF_popmax=.;controls_AF_popmax=0.3674;Kaviar_AF=0.0450188;Kaviar_AC=6960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000033358|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.728733;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +10 112541062 rs61735268 G A 100 PASS AC=1;AF=0.0271565;AN=214;NS=2504;DP=20395;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0976;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.G695A:p.G232D;1000g2015aug_all=0.0271565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735268;CLNALLELEID=53193;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.972;Polyphen2_HDIV_rankscore=0.554;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.573;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.791;MutationTaster_converted_rankscore=0.344;MutationTaster_pred=D;MutationAssessor_score=2.555;MutationAssessor_score_rankscore=0.748;MutationAssessor_pred=M;FATHMM_score=-2.91;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-2.5;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=D;VEST3_score=0.158;VEST3_rankscore=0.189;MetaSVM_score=-0.242;MetaSVM_rankscore=0.766;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.408;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.311;REVEL_rankscore=0.637;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.048;CADD_raw_rankscore=0.680;CADD_phred=25.2;DANN_score=0.997;DANN_rankscore=0.795;fathmm-MKL_coding_score=0.836;fathmm-MKL_coding_rankscore=0.424;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.389;Eigen-PC-raw=0.451;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=2.971;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=12.738;SiPhy_29way_logOdds_rankscore=0.564;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0003;AF=0.0227;AF_popmax=0.0786;AF_male=0.0224;AF_female=0.0229;AF_raw=0.0228;AF_afr=0.0786;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0780;non_neuro_AF_popmax=0.0816;non_cancer_AF_popmax=.;controls_AF_popmax=0.0813;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.772611;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541073 rs143841298 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20308;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.T706C:p.S236P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143841298;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.167;SIFT_converted_rankscore=0.231;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-2.71;FATHMM_converted_rankscore=0.906;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.078;VEST3_rankscore=0.069;MetaSVM_score=-0.696;MetaSVM_rankscore=0.607;MetaSVM_pred=T;MetaLR_score=0.412;MetaLR_rankscore=0.760;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.546;M-CAP_pred=D;REVEL_score=0.176;REVEL_rankscore=0.449;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.375;CADD_raw_rankscore=0.063;CADD_phred=0.443;DANN_score=0.899;DANN_rankscore=0.186;fathmm-MKL_coding_score=0.165;fathmm-MKL_coding_rankscore=0.192;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.155;Eigen-PC-raw=-1.215;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-8.21;GERP++_RS_rankscore=0.009;phyloP100way_vertebrate=-1.043;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.094;phastCons20way_mammalian_rankscore=0.187;SiPhy_29way_logOdds=2.053;SiPhy_29way_logOdds_rankscore=0.033;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR,OREG1528648|N/A|ESR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.808133;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541335 rs568559249 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18364;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.A968G:p.H323R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568559249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.319;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.057;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.819;LRT_converted_rankscore=0.069;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.892;FATHMM_pred=D;PROVEAN_score=0.1;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.100;MetaSVM_score=-0.690;MetaSVM_rankscore=0.610;MetaSVM_pred=T;MetaLR_score=0.398;MetaLR_rankscore=0.750;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.648;M-CAP_pred=D;REVEL_score=0.173;REVEL_rankscore=0.443;MutPred_score=0.192;MutPred_rankscore=0.103;CADD_raw=-0.710;CADD_raw_rankscore=0.044;CADD_phred=0.068;DANN_score=0.332;DANN_rankscore=0.020;fathmm-MKL_coding_score=0.154;fathmm-MKL_coding_rankscore=0.187;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.763;Eigen-PC-raw=-0.628;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.352;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.52;GERP++_RS_rankscore=0.393;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.116;phyloP20way_mammalian_rankscore=0.208;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=7.789;SiPhy_29way_logOdds_rankscore=0.281;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.868653;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541676 rs61862866 T C 100 PASS AC=52;AF=0.132987;AN=214;NS=2504;DP=18214;EAS_AF=0.0298;AMR_AF=0.1816;AFR_AF=0.0295;EUR_AF=0.2565;SAS_AF=0.2178;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.132987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61862866;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2788;ExAC_nontcga_ALL=0.2371;ExAC_nontcga_AFR=0.0752;ExAC_nontcga_AMR=0.1973;ExAC_nontcga_EAS=0.0248;ExAC_nontcga_FIN=0.3194;ExAC_nontcga_NFE=0.2642;ExAC_nontcga_OTH=0.2584;ExAC_nontcga_SAS=0.2440;AF=0.2178;AF_popmax=0.2941;AF_male=0.2117;AF_female=0.2255;AF_raw=0.2192;AF_afr=0.0715;AF_sas=.;AF_amr=0.1710;AF_eas=0.0263;AF_nfe=0.2941;AF_fin=0.3303;AF_asj=0.1724;AF_oth=0.2772;non_topmed_AF_popmax=0.2956;non_neuro_AF_popmax=0.2910;non_cancer_AF_popmax=.;controls_AF_popmax=0.2876;Kaviar_AF=0.0663575;Kaviar_AC=10259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503030;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 +10 112541678 rs61862867 G A 100 PASS AC=52;AF=0.132987;AN=214;NS=2504;DP=18163;EAS_AF=0.0298;AMR_AF=0.1816;AFR_AF=0.0295;EUR_AF=0.2565;SAS_AF=0.2178;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.132987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61862867;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2370;ExAC_nontcga_AFR=0.0752;ExAC_nontcga_AMR=0.1973;ExAC_nontcga_EAS=0.0248;ExAC_nontcga_FIN=0.3194;ExAC_nontcga_NFE=0.2641;ExAC_nontcga_OTH=0.2584;ExAC_nontcga_SAS=0.2439;AF=0.2176;AF_popmax=0.2937;AF_male=0.2115;AF_female=0.2254;AF_raw=0.2190;AF_afr=0.0715;AF_sas=.;AF_amr=0.1710;AF_eas=0.0263;AF_nfe=0.2937;AF_fin=0.3305;AF_asj=0.1724;AF_oth=0.2772;non_topmed_AF_popmax=0.2953;non_neuro_AF_popmax=0.2907;non_cancer_AF_popmax=.;controls_AF_popmax=0.2873;Kaviar_AF=0.0656719;Kaviar_AC=10153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503030;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 +10 112543217 rs6585012 G A 100 PASS AC=153;AF=0.788139;AN=214;NS=2504;DP=20013;EAS_AF=0.9673;AMR_AF=0.8256;AFR_AF=0.584;EUR_AF=0.7575;SAS_AF=0.8845;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.788139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6585012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7879;ExAC_nontcga_ALL=0.8129;ExAC_nontcga_AFR=0.6064;ExAC_nontcga_AMR=0.8421;ExAC_nontcga_EAS=0.9720;ExAC_nontcga_FIN=0.8024;ExAC_nontcga_NFE=0.7941;ExAC_nontcga_OTH=0.8090;ExAC_nontcga_SAS=0.8638;AF=0.7643;AF_popmax=0.9659;AF_male=0.7655;AF_female=0.7626;AF_raw=0.7640;AF_afr=0.6224;AF_sas=.;AF_amr=0.8073;AF_eas=0.9659;AF_nfe=0.8054;AF_fin=0.8254;AF_asj=0.7690;AF_oth=0.7960;non_topmed_AF_popmax=0.9664;non_neuro_AF_popmax=0.9659;non_cancer_AF_popmax=.;controls_AF_popmax=0.9737;Kaviar_AF=0.263664;Kaviar_AC=40763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|0 0|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +10 112544042 rs528972311 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20499;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528972311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544063 rs7898438 A C 100 PASS AC=109;AF=0.633986;AN=214;NS=2504;DP=20444;EAS_AF=0.8899;AMR_AF=0.611;AFR_AF=0.4266;EUR_AF=0.5318;SAS_AF=0.772;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.633986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7898438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5698;ExAC_nontcga_ALL=0.6739;ExAC_nontcga_AFR=0.4379;ExAC_nontcga_AMR=0.6715;ExAC_nontcga_EAS=0.9062;ExAC_nontcga_FIN=0.6875;ExAC_nontcga_NFE=0.5832;ExAC_nontcga_OTH=0.6349;ExAC_nontcga_SAS=0.7638;AF=0.5572;AF_popmax=0.8659;AF_male=0.5589;AF_female=0.5551;AF_raw=0.5568;AF_afr=0.4322;AF_sas=.;AF_amr=0.6714;AF_eas=0.8659;AF_nfe=0.5766;AF_fin=0.5990;AF_asj=0.5931;AF_oth=0.6079;non_topmed_AF_popmax=0.8658;non_neuro_AF_popmax=0.8659;non_cancer_AF_popmax=.;controls_AF_popmax=0.8832;Kaviar_AF=0.189073;Kaviar_AC=29231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 1|1 1|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 +10 112544244 rs142795922 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=21592;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0358;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142795922;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0071;AF_male=0.0029;AF_female=0.0018;AF_raw=0.0024;AF_afr=0.0008;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0062241;Kaviar_AC=162;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.775845;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544505 rs150879743 G T 100 PASS AC=4;AF=0.00139776;AN=214;NS=2504;DP=22419;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150879743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0294;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0;AF=0.0033;AF_popmax=0.0033;AF_male=0.0028;AF_female=0.0039;AF_raw=0.0033;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0115;AF_asj=0.0207;AF_oth=0.0028;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009896;Kaviar_AC=153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544655 rs7077757 C T 100 PASS AC=41;AF=0.164137;AN=214;NS=2504;DP=22461;EAS_AF=0.0784;AMR_AF=0.2147;AFR_AF=0.2042;EUR_AF=0.2217;SAS_AF=0.1033;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.164137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7077757;CLNALLELEID=53143;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.2200;ExAC_nontcga_ALL=0.1476;ExAC_nontcga_AFR=0.2259;ExAC_nontcga_AMR=0.1769;ExAC_nontcga_EAS=0.0652;ExAC_nontcga_FIN=0.2059;ExAC_nontcga_NFE=0.2057;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.0995;AF=0.2152;AF_popmax=0.2280;AF_male=0.2147;AF_female=0.2159;AF_raw=0.2154;AF_afr=0.2227;AF_sas=.;AF_amr=0.1427;AF_eas=0.0968;AF_nfe=0.2280;AF_fin=0.2249;AF_asj=0.1828;AF_oth=0.1774;non_topmed_AF_popmax=0.2296;non_neuro_AF_popmax=0.2295;non_cancer_AF_popmax=.;controls_AF_popmax=0.2351;Kaviar_AF=0.0562541;Kaviar_AC=8697;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.560524;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 +10 112559490 rs559309808 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23163;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559309808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112559652 rs530071637 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23354;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon7:c.G1776A:p.K592K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530071637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.842735;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570130 rs12572941 G C 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=19385;EAS_AF=0.0228;AMR_AF=0.013;AFR_AF=0.0272;EUR_AF=0.0199;SAS_AF=0.0971;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12572941;CLNALLELEID=53145;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.0245;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0310;ExAC_nontcga_AMR=0.0238;ExAC_nontcga_EAS=0.0311;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0268;ExAC_nontcga_OTH=0.0618;ExAC_nontcga_SAS=0.0898;AF=0.0259;AF_popmax=0.0327;AF_male=0.0259;AF_female=0.0259;AF_raw=0.0259;AF_afr=0.0263;AF_sas=.;AF_amr=0.0177;AF_eas=0.0327;AF_nfe=0.0222;AF_fin=0.0348;AF_asj=0.0172;AF_oth=0.0450;non_topmed_AF_popmax=0.0329;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0371;Kaviar_AF=0.0121538;Kaviar_AC=1879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.309749;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570147 rs558674954 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon8:c.G1807A:p.G603R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558674954;CLNALLELEID=258623;CLNDN=Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-3.13;FATHMM_converted_rankscore=0.928;FATHMM_pred=D;PROVEAN_score=-4.17;PROVEAN_converted_rankscore=0.754;PROVEAN_pred=D;VEST3_score=0.769;VEST3_rankscore=0.762;MetaSVM_score=0.739;MetaSVM_rankscore=0.937;MetaSVM_pred=D;MetaLR_score=0.802;MetaLR_rankscore=0.933;MetaLR_pred=D;M-CAP_score=0.409;M-CAP_rankscore=0.936;M-CAP_pred=D;REVEL_score=0.645;REVEL_rankscore=0.867;MutPred_score=0.438;MutPred_rankscore=0.492;CADD_raw=7.468;CADD_raw_rankscore=0.952;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.921;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.759;Eigen-PC-raw=0.811;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=8.704;phyloP100way_vertebrate_rankscore=0.910;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.907;phastCons20way_mammalian_rankscore=0.385;SiPhy_29way_logOdds=20.450;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.982e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.751411;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570243 rs11195338 T C 100 PASS AC=91;AF=0.316494;AN=214;NS=2504;DP=18917;EAS_AF=0.5506;AMR_AF=0.2867;AFR_AF=0.1014;EUR_AF=0.3787;SAS_AF=0.3231;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.316494;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11195338;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3755;ExAC_nontcga_ALL=0.3499;ExAC_nontcga_AFR=0.1405;ExAC_nontcga_AMR=0.3483;ExAC_nontcga_EAS=0.5531;ExAC_nontcga_FIN=0.4163;ExAC_nontcga_NFE=0.3967;ExAC_nontcga_OTH=0.3837;ExAC_nontcga_SAS=0.3392;AF=0.3203;AF_popmax=0.5032;AF_male=0.3164;AF_female=0.3251;AF_raw=0.3203;AF_afr=0.1529;AF_sas=.;AF_amr=0.2818;AF_eas=0.5032;AF_nfe=0.3712;AF_fin=0.4122;AF_asj=0.4586;AF_oth=0.3775;non_topmed_AF_popmax=0.5033;non_neuro_AF_popmax=0.5032;non_cancer_AF_popmax=.;controls_AF_popmax=0.4802;Kaviar_AF=0.11276;Kaviar_AC=17433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000949941|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.073799;ALLELE_END GT 0|0 1|1 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 1|1 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|1 1|1 1|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|1 1|0 0|1 0|1 0|1 +10 112572147 rs41292592 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14922;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.C1992T:p.P664P;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292592;CLNALLELEID=53151;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0020;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.872771;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112572458 rs1417635 G C 100 PASS AC=214;AF=0.991014;AN=214;NS=2504;DP=17215;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.969;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;1000g2015aug_all=0.991014;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1417635;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9967;ExAC_nontcga_AFR=0.9664;ExAC_nontcga_AMR=0.9932;ExAC_nontcga_EAS=0.9969;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9920;AF_popmax=1;AF_male=0.9919;AF_female=0.9922;AF_raw=0.9920;AF_afr=0.9721;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000415671|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1416621|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.800262;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 112579791 rs143080581 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20863;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143080581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0003;AF_popmax=0.0003;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.602422;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112583178 rs557837391 ATGTTGTATTTCTT A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=20687;EAS_AF=0.004;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.005;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557837391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193056|N/A|TFAP2C|PAZAR,OREG1601177|N/A|FOXA1|PAZAR,OREG1659450|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.877816,96.419048;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112583294 rs116908219 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17878;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon12:c.G3373A:p.E1125K;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116908219;CLNALLELEID=53177;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_rankscore=0.484;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.293;Polyphen2_HVAR_rankscore=0.390;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.416;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_score_rankscore=0.463;MutationAssessor_pred=L;FATHMM_score=-0.91;FATHMM_converted_rankscore=0.750;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.424;PROVEAN_pred=N;VEST3_score=0.834;VEST3_rankscore=0.821;MetaSVM_score=-0.499;MetaSVM_rankscore=0.687;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_rankscore=0.583;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.261;M-CAP_pred=T;REVEL_score=0.324;REVEL_rankscore=0.650;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.854;CADD_raw_rankscore=0.520;CADD_phred=23.4;DANN_score=0.997;DANN_rankscore=0.838;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_rankscore=0.293;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.448;Eigen-PC-raw=0.543;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=3.326;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=13.979;SiPhy_29way_logOdds_rankscore=0.636;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0027;AF_popmax=0.0043;AF_male=0.0025;AF_female=0.0030;AF_raw=0.0027;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0012;AF_asj=0.0241;AF_oth=0.0019;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0010349;Kaviar_AC=160;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1659450|N/A|FOXA1|PAZAR,OREG1601177|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.715618;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112590778 rs74407586 G C 100 PASS AC=1;AF=0.0407348;AN=214;NS=2504;DP=20260;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.146;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74407586;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0149;ExAC_nontcga_AFR=0.1230;ExAC_nontcga_AMR=0.0143;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0334;AF_popmax=0.1185;AF_male=0.0343;AF_female=0.0323;AF_raw=0.0336;AF_afr=0.1185;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.1182;non_neuro_AF_popmax=0.1336;non_cancer_AF_popmax=.;controls_AF_popmax=0.1257;Kaviar_AF=0.0041073;Kaviar_AC=635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.774143;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112590810 rs7070640 G C 100 PASS AC=214;AF=0.969649;AN=214;NS=2504;DP=21655;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7070640;CLNALLELEID=53180;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9887;ExAC_nontcga_AFR=0.8922;ExAC_nontcga_AMR=0.9966;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9996;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9723;AF_popmax=1;AF_male=0.9702;AF_female=0.9751;AF_raw=0.9723;AF_afr=0.9018;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.305209;Kaviar_AC=47186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 112590980 rs144120562 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20926;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144120562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.942e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112595719 rs942077 G C 100 PASS AC=172;AF=0.697085;AN=214;NS=2504;DP=19393;EAS_AF=0.7956;AMR_AF=0.7983;AFR_AF=0.4334;EUR_AF=0.8688;SAS_AF=0.7035;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;1000g2015aug_all=0.697085;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs942077;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_rankscore=0.442;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_rankscore=0.400;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_converted_rankscore=0.390;MutationTaster_pred=P;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.99;FATHMM_converted_rankscore=0.921;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.204;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.083;MetaSVM_score=-0.917;MetaSVM_rankscore=0.460;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.504;CADD_raw_rankscore=0.748;CADD_phred=26.3;DANN_score=0.997;DANN_rankscore=0.781;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.814;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.260;Eigen-PC-raw=0.309;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=4.123;phyloP100way_vertebrate_rankscore=0.574;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.433;phastCons20way_mammalian_rankscore=0.260;SiPhy_29way_logOdds=17.448;SiPhy_29way_logOdds_rankscore=0.874;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8724;ExAC_nontcga_ALL=0.7475;ExAC_nontcga_AFR=0.4874;ExAC_nontcga_AMR=0.8194;ExAC_nontcga_EAS=0.7950;ExAC_nontcga_FIN=0.9118;ExAC_nontcga_NFE=0.8684;ExAC_nontcga_OTH=0.7917;ExAC_nontcga_SAS=0.7207;AF=0.7569;AF_popmax=0.8763;AF_male=0.7522;AF_female=0.7629;AF_raw=0.7563;AF_afr=0.4841;AF_sas=.;AF_amr=0.7842;AF_eas=0.7943;AF_nfe=0.8763;AF_fin=0.8579;AF_asj=0.8414;AF_oth=0.8238;non_topmed_AF_popmax=0.8840;non_neuro_AF_popmax=0.8755;non_cancer_AF_popmax=.;controls_AF_popmax=0.8931;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000415679|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609389;ALLELE_END GT 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 +10 121429394 rs35434411 G A 100 PASS AC=7;AF=0.00738818;AN=214;NS=2504;DP=16284;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G212A:p.R71Q;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35434411;CLNALLELEID=53947;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.49;SIFT_converted_rankscore=0.080;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_converted_rankscore=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.455;MutationAssessor_score_rankscore=0.369;MutationAssessor_pred=L;FATHMM_score=-0.81;FATHMM_converted_rankscore=0.740;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_converted_rankscore=0.036;PROVEAN_pred=N;VEST3_score=0.038;VEST3_rankscore=0.106;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.316;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.270;CADD_raw_rankscore=0.334;CADD_phred=17.97;DANN_score=0.987;DANN_rankscore=0.450;fathmm-MKL_coding_score=0.222;fathmm-MKL_coding_rankscore=0.215;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.410;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.432;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=3.12;GERP++_RS_rankscore=0.348;phyloP100way_vertebrate=1.128;phyloP100way_vertebrate_rankscore=0.308;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=0.118;phastCons100way_vertebrate_rankscore=0.229;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=10.329;SiPhy_29way_logOdds_rankscore=0.428;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0326;ExAC_nontcga_ALL=0.0193;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0089;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0355;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0031;AF=0.0245;AF_popmax=0.0354;AF_male=0.0228;AF_female=0.0267;AF_raw=0.0246;AF_afr=0.0053;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0354;AF_fin=0.0374;AF_asj=0.0034;AF_oth=0.0350;non_topmed_AF_popmax=0.0372;non_neuro_AF_popmax=0.0359;non_cancer_AF_popmax=.;controls_AF_popmax=0.0423;Kaviar_AF=0.0204525;Kaviar_AC=3162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.819489;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121429412 rs141355480 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16165;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.C230T:p.P77L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141355480;CLNALLELEID=174610;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.497;SIFT_converted_rankscore=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_converted_rankscore=0.275;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-2.44;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.753;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.294;MetaSVM_score=-0.924;MetaSVM_rankscore=0.451;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.327;MetaLR_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.341;M-CAP_pred=T;REVEL_score=0.127;REVEL_rankscore=0.354;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.270;CADD_raw_rankscore=0.120;CADD_phred=5.403;DANN_score=0.565;DANN_rankscore=0.054;fathmm-MKL_coding_score=0.019;fathmm-MKL_coding_rankscore=0.058;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.430;Eigen-PC-raw=-1.350;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.402;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=-1.64;GERP++_RS_rankscore=0.078;phyloP100way_vertebrate=-0.093;phyloP100way_vertebrate_rankscore=0.110;phyloP20way_mammalian=0.120;phyloP20way_mammalian_rankscore=0.210;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.109;phastCons20way_mammalian_rankscore=0.192;SiPhy_29way_logOdds=6.274;SiPhy_29way_logOdds_rankscore=0.201;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.281516;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121429633 rs2234962 T C 100 PASS AC=34;AF=0.0964457;AN=214;NS=2504;DP=16366;EAS_AF=0.002;AMR_AF=0.1037;AFR_AF=0.0106;EUR_AF=0.2187;SAS_AF=0.1789;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;1000g2015aug_all=0.0964457;GWAS=rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883;ORegAnno_REGULATORY_P=rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883;avsnp150=rs2234962;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_rankscore=0.391;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_rankscore=0.399;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_converted_rankscore=0.154;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-1.02;FATHMM_converted_rankscore=0.794;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.886;PROVEAN_pred=N;VEST3_score=0.177;VEST3_rankscore=0.348;MetaSVM_score=-1.099;MetaSVM_rankscore=0.042;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.280;REVEL_rankscore=0.602;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.176;CADD_raw_rankscore=0.560;CADD_phred=23.8;DANN_score=0.986;DANN_rankscore=0.434;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.515;Eigen-PC-raw=-0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=0.064;GERP++_RS_rankscore=0.136;phyloP100way_vertebrate=0.566;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=0.123;phyloP20way_mammalian_rankscore=0.211;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.413;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2073;ExAC_nontcga_ALL=0.1756;ExAC_nontcga_AFR=0.0369;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.2257;ExAC_nontcga_NFE=0.2235;ExAC_nontcga_OTH=0.1919;ExAC_nontcga_SAS=0.2109;AF=0.1479;AF_popmax=0.2060;AF_male=0.1433;AF_female=0.1537;AF_raw=0.1484;AF_afr=0.0363;AF_sas=.;AF_amr=0.1061;AF_eas=0.0032;AF_nfe=0.2060;AF_fin=0.2330;AF_asj=0.2049;AF_oth=0.1716;non_topmed_AF_popmax=0.2021;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.1948;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802511;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +10 121429645 rs61756328 G A 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=15597;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G463A:p.A155T;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756328;CLNALLELEID=53951;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.802;SIFT_converted_rankscore=0.036;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_converted_rankscore=0.222;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.755;MutationAssessor_score_rankscore=0.192;MutationAssessor_pred=N;FATHMM_score=-0.74;FATHMM_converted_rankscore=0.733;FATHMM_pred=T;PROVEAN_score=0.56;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.288;MetaSVM_score=-1.060;MetaSVM_rankscore=0.118;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.358;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.223;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.668;CADD_raw_rankscore=0.158;CADD_phred=8.614;DANN_score=0.774;DANN_rankscore=0.115;fathmm-MKL_coding_score=0.203;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.950;Eigen-PC-raw=-0.880;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=1.69;GERP++_RS_rankscore=0.232;phyloP100way_vertebrate=2.341;phyloP100way_vertebrate_rankscore=0.434;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.039;phastCons100way_vertebrate_rankscore=0.207;phastCons20way_mammalian=0.900;phastCons20way_mammalian_rankscore=0.381;SiPhy_29way_logOdds=0.918;SiPhy_29way_logOdds_rankscore=0.012;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0013;AF=0.0021;AF_popmax=0.0031;AF_male=0.0021;AF_female=0.0021;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0017;AF_asj=0.0172;AF_oth=0.0018;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0028525;Kaviar_AC=441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.637626;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121432040 rs548032105 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16049;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.C781T:p.R261W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548032105;CLNALLELEID=174891;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.085;SIFT_converted_rankscore=0.327;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.209;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.059;LRT_converted_rankscore=0.224;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.915;MutationAssessor_score_rankscore=0.234;MutationAssessor_pred=L;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-1.89;PROVEAN_converted_rankscore=0.723;PROVEAN_pred=N;VEST3_score=0.179;VEST3_rankscore=0.482;MetaSVM_score=-0.937;MetaSVM_rankscore=0.431;MetaSVM_pred=T;MetaLR_score=0.168;MetaLR_rankscore=0.507;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.496;M-CAP_pred=D;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=2.527;CADD_raw_rankscore=0.365;CADD_phred=19.64;DANN_score=0.981;DANN_rankscore=0.374;fathmm-MKL_coding_score=0.348;fathmm-MKL_coding_rankscore=0.249;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.911;Eigen-PC-raw=-0.881;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.488;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=1.374;phyloP100way_vertebrate_rankscore=0.337;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.272;phastCons100way_vertebrate_rankscore=0.248;phastCons20way_mammalian=0.027;phastCons20way_mammalian_rankscore=0.143;SiPhy_29way_logOdds=10.390;SiPhy_29way_logOdds_rankscore=0.432;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.833e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.846e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.185e-05;AF_popmax=0.0012;AF_male=0;AF_female=7.18e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688381;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +10 121435955 rs196294 A C 100 PASS AC=164;AF=0.635184;AN=214;NS=2504;DP=17134;EAS_AF=0.4633;AMR_AF=0.6931;AFR_AF=0.7216;EUR_AF=0.7485;SAS_AF=0.5378;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.635184;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs196294;CLNALLELEID=253698;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7245;ExAC_nontcga_ALL=0.6711;ExAC_nontcga_AFR=0.7189;ExAC_nontcga_AMR=0.6106;ExAC_nontcga_EAS=0.4999;ExAC_nontcga_FIN=0.6353;ExAC_nontcga_NFE=0.7296;ExAC_nontcga_OTH=0.7188;ExAC_nontcga_SAS=0.5881;AF=0.6949;AF_popmax=0.7204;AF_male=0.6963;AF_female=0.6932;AF_raw=0.6943;AF_afr=0.7099;AF_sas=.;AF_amr=0.6161;AF_eas=0.5065;AF_nfe=0.7204;AF_fin=0.6431;AF_asj=0.7759;AF_oth=0.6875;non_topmed_AF_popmax=0.7109;non_neuro_AF_popmax=0.7189;non_cancer_AF_popmax=.;controls_AF_popmax=0.7184;Kaviar_AF=0.666641;Kaviar_AC=103064;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.108166;ALLELE_END GT 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|1 +10 121436068 rs3858339 T G 100 PASS AC=23;AF=0.155751;AN=214;NS=2504;DP=16551;EAS_AF=0.254;AMR_AF=0.1744;AFR_AF=0.1664;EUR_AF=0.0964;SAS_AF=0.0879;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.T1002G:p.P334P;1000g2015aug_all=0.155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3858339;CLNALLELEID=53941;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0881;ExAC_nontcga_ALL=0.1153;ExAC_nontcga_AFR=0.1682;ExAC_nontcga_AMR=0.1802;ExAC_nontcga_EAS=0.2663;ExAC_nontcga_FIN=0.1030;ExAC_nontcga_NFE=0.0835;ExAC_nontcga_OTH=0.1354;ExAC_nontcga_SAS=0.0792;AF=0.1250;AF_popmax=0.2571;AF_male=0.1246;AF_female=0.1255;AF_raw=0.1253;AF_afr=0.1638;AF_sas=.;AF_amr=0.1596;AF_eas=0.2571;AF_nfe=0.0951;AF_fin=0.1005;AF_asj=0.0828;AF_oth=0.1123;non_topmed_AF_popmax=0.2550;non_neuro_AF_popmax=0.2571;non_cancer_AF_popmax=.;controls_AF_popmax=0.2626;Kaviar_AF=0.110755;Kaviar_AC=17123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.818653;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +10 121436100 rs189646603 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1034T:p.E345V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189646603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.964;Polyphen2_HDIV_rankscore=0.539;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.694;Polyphen2_HVAR_rankscore=0.521;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=-1.02;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.665;PROVEAN_pred=N;VEST3_score=0.604;VEST3_rankscore=0.628;MetaSVM_score=-0.179;MetaSVM_rankscore=0.782;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_rankscore=0.789;MetaLR_pred=T;M-CAP_score=0.075;M-CAP_rankscore=0.724;M-CAP_pred=D;REVEL_score=0.290;REVEL_rankscore=0.613;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.722;CADD_raw_rankscore=0.781;CADD_phred=26.9;DANN_score=0.995;DANN_rankscore=0.684;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.438;Eigen-PC-raw=0.493;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=4.812;phyloP100way_vertebrate_rankscore=0.621;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.302;SiPhy_29way_logOdds_rankscore=0.826;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835314;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121436286 rs3858340 C T 100 PASS AC=23;AF=0.155551;AN=214;NS=2504;DP=16571;EAS_AF=0.253;AMR_AF=0.1744;AFR_AF=0.1664;EUR_AF=0.0964;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.C1220T:p.P407L;1000g2015aug_all=0.155551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3858340;CLNALLELEID=53943;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.191;Polyphen2_HDIV_rankscore=0.277;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_rankscore=0.291;Polyphen2_HVAR_pred=B;LRT_score=0.279;LRT_converted_rankscore=0.150;LRT_pred=N;MutationTaster_score=0.226;MutationTaster_converted_rankscore=0.342;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.068;VEST3_rankscore=0.055;MetaSVM_score=-1.093;MetaSVM_rankscore=0.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.244;CADD_raw_rankscore=0.449;CADD_phred=22.8;DANN_score=0.990;DANN_rankscore=0.490;fathmm-MKL_coding_score=0.738;fathmm-MKL_coding_rankscore=0.358;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.228;Eigen-PC-raw=-0.157;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=4.502;phyloP100way_vertebrate_rankscore=0.599;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.220;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.064;phastCons20way_mammalian_rankscore=0.173;SiPhy_29way_logOdds=20.260;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=BAG_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0877;ExAC_nontcga_ALL=0.1150;ExAC_nontcga_AFR=0.1679;ExAC_nontcga_AMR=0.1798;ExAC_nontcga_EAS=0.2650;ExAC_nontcga_FIN=0.1030;ExAC_nontcga_NFE=0.0833;ExAC_nontcga_OTH=0.1354;ExAC_nontcga_SAS=0.0785;AF=0.1254;AF_popmax=0.2597;AF_male=0.125;AF_female=0.1260;AF_raw=0.1254;AF_afr=0.1643;AF_sas=.;AF_amr=0.1616;AF_eas=0.2597;AF_nfe=0.0953;AF_fin=0.1005;AF_asj=0.0828;AF_oth=0.1121;non_topmed_AF_popmax=0.2576;non_neuro_AF_popmax=0.2597;non_cancer_AF_popmax=.;controls_AF_popmax=0.2637;Kaviar_AF=0.112547;Kaviar_AC=17400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.687790;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +10 121436362 rs196295 A G 100 PASS AC=176;AF=0.70647;AN=214;NS=2504;DP=19654;EAS_AF=0.4881;AMR_AF=0.7219;AFR_AF=0.7534;EUR_AF=0.8012;SAS_AF=0.7597;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;1000g2015aug_all=0.70647;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs196295;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7792;ExAC_nontcga_ALL=0.7370;ExAC_nontcga_AFR=0.7502;ExAC_nontcga_AMR=0.6299;ExAC_nontcga_EAS=0.5175;ExAC_nontcga_FIN=0.7299;ExAC_nontcga_NFE=0.7811;ExAC_nontcga_OTH=0.7695;ExAC_nontcga_SAS=0.7636;AF=0.7516;AF_popmax=0.7807;AF_male=0.7514;AF_female=0.7518;AF_raw=0.7514;AF_afr=0.7521;AF_sas=.;AF_amr=0.6445;AF_eas=0.5250;AF_nfe=0.7807;AF_fin=0.7415;AF_asj=0.8172;AF_oth=0.7574;non_topmed_AF_popmax=0.7726;non_neuro_AF_popmax=0.7805;non_cancer_AF_popmax=.;controls_AF_popmax=0.7607;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0003888|hsa-miR-766-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.820161;ALLELE_END GT 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|1 +11 533415 rs201986435 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.122e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0009;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.732043;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.122e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0009;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.732043;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533546 rs111352454 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=16077;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HRAS:NM_001318054:exon4:c.C38T:p.T13I;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111352454;CLNALLELEID=48911;CLNDN=Costello_syndrome|Rasopathy|not_specified;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0009;AF_popmax=0.0015;AF_male=0.0012;AF_female=0.0006;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR,OREG1848100|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.838963;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533664 rs143771550 T A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14291;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143771550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.653e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.375e-05;AF_popmax=0.0001;AF_male=5.729e-05;AF_female=7.185e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511148|N/A|EGR1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.071362;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533821 rs193163027 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18297;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon3:c.C235G:p.L79V,HRAS:NM_005343:exon3:c.C235G:p.L79V,HRAS:NM_176795:exon3:c.C235G:p.L79V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193163027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.058;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=0.59;Polyphen2_HDIV_rankscore=0.472;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.232;Polyphen2_HVAR_rankscore=0.573;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.275;MutationAssessor_score_rankscore=0.100;MutationAssessor_pred=N;FATHMM_score=-1.52;FATHMM_converted_rankscore=0.815;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.614;PROVEAN_pred=D;VEST3_score=0.579;VEST3_rankscore=0.609;MetaSVM_score=-0.137;MetaSVM_rankscore=0.793;MetaSVM_pred=T;MetaLR_score=0.471;MetaLR_rankscore=0.796;MetaLR_pred=T;M-CAP_score=0.063;M-CAP_rankscore=0.689;M-CAP_pred=D;REVEL_score=0.527;REVEL_rankscore=0.803;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.510;CADD_raw_rankscore=0.363;CADD_phred=19.53;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.875;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.232;Eigen-PC-raw=0.236;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=3.64;GERP++_RS_rankscore=0.407;phyloP100way_vertebrate=7.979;phyloP100way_vertebrate_rankscore=0.876;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.913;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=14.843;SiPhy_29way_logOdds_rankscore=0.697;Interpro_domain=P-loop_containing_nucleoside_triphosphate_hydrolase|Small_GTP-binding_protein_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1848101|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.776664;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 534197 rs41258054 C T 100 PASS AC=14;AF=0.0766773;AN=214;NS=2504;DP=17121;EAS_AF=0.1528;AMR_AF=0.1369;AFR_AF=0.003;EUR_AF=0.0557;SAS_AF=0.0767;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41258054;CLNALLELEID=48902;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0431;ExAC_nontcga_ALL=0.0700;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.2058;ExAC_nontcga_EAS=0.1432;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0396;ExAC_nontcga_OTH=0.0630;ExAC_nontcga_SAS=0.0937;AF=0.0410;AF_popmax=0.1686;AF_male=0.0424;AF_female=0.0393;AF_raw=0.0410;AF_afr=0.0079;AF_sas=.;AF_amr=0.1686;AF_eas=0.1305;AF_nfe=0.0469;AF_fin=0.0250;AF_asj=0.0345;AF_oth=0.0488;non_topmed_AF_popmax=0.1691;non_neuro_AF_popmax=0.1462;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0639125;Kaviar_AC=9881;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.639245;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 534242 rs12628 A G 100 PASS AC=69;AF=0.297125;AN=214;NS=2504;DP=18347;EAS_AF=0.1726;AMR_AF=0.3646;AFR_AF=0.3729;EUR_AF=0.3121;SAS_AF=0.2597;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;1000g2015aug_all=0.297125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12628;CLNALLELEID=48901;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3441;ExAC_nontcga_ALL=0.3113;ExAC_nontcga_AFR=0.3786;ExAC_nontcga_AMR=0.3703;ExAC_nontcga_EAS=0.1903;ExAC_nontcga_FIN=0.2630;ExAC_nontcga_NFE=0.3275;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.2585;AF=0.3424;AF_popmax=0.3835;AF_male=0.3473;AF_female=0.3363;AF_raw=0.3424;AF_afr=0.3835;AF_sas=.;AF_amr=0.3582;AF_eas=0.2085;AF_nfe=0.3524;AF_fin=0.2685;AF_asj=0.2517;AF_oth=0.3133;non_topmed_AF_popmax=0.3830;non_neuro_AF_popmax=0.3777;non_cancer_AF_popmax=.;controls_AF_popmax=0.3671;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.356061::-0.197663;Heart_Left_Ventricle=Heart_Left_Ventricle::0.338235::0.323458;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.816824;ALLELE_END GT 1|1 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|1 +11 534332 rs41294870 G A 100 PASS AC=7;AF=0.0357428;AN=214;NS=2504;DP=15101;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.0113;EUR_AF=0.0457;SAS_AF=0.0982;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=HRAS;GeneDetail.refGene=NM_005343:c.-10C>T\x3bNM_176795:c.-10C>T\x3bNM_001318054:c.-749C>T\x3bNM_001130442:c.-10C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0357428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41294870;CLNALLELEID=141259;CLNDN=Costello_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0462;ExAC_nontcga_ALL=0.0474;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0326;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0337;ExAC_nontcga_NFE=0.0578;ExAC_nontcga_OTH=0.0446;ExAC_nontcga_SAS=0.0670;AF=0.0337;AF_popmax=0.0495;AF_male=0.0347;AF_female=0.0326;AF_raw=0.0338;AF_afr=0.0184;AF_sas=.;AF_amr=0.0495;AF_eas=0;AF_nfe=0.0435;AF_fin=0.0297;AF_asj=0.1172;AF_oth=0.0450;non_topmed_AF_popmax=0.0506;non_neuro_AF_popmax=0.0578;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0432983;Kaviar_AC=6694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.963820;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +11 2466274 rs562468879 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=2185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=KCNQ1;GeneDetail.refGene=NM_000218:c.-55G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562468879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0025;AF_male=7.001e-05;AF_female=0.0002;AF_raw=9.835e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0.0025;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035945|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500675|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.294939;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2466501 rs551422864 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=4502;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.C173T:p.A58V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551422864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.869;Polyphen2_HDIV_rankscore=0.458;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.456;Polyphen2_HVAR_rankscore=0.445;Polyphen2_HVAR_pred=P;LRT_score=0.389;LRT_converted_rankscore=0.133;LRT_pred=U;MutationTaster_score=0.964;MutationTaster_converted_rankscore=0.260;MutationTaster_pred=N;MutationAssessor_score=1.525;MutationAssessor_score_rankscore=0.387;MutationAssessor_pred=L;FATHMM_score=-5.74;FATHMM_converted_rankscore=0.993;FATHMM_pred=D;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=0.902;MetaSVM_rankscore=0.957;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.979;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.348;REVEL_rankscore=0.673;MutPred_score=0.24;MutPred_rankscore=0.173;CADD_raw=3.646;CADD_raw_rankscore=0.495;CADD_phred=23.2;DANN_score=0.995;DANN_rankscore=0.694;fathmm-MKL_coding_score=0.156;fathmm-MKL_coding_rankscore=0.188;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.511;Eigen-PC-raw=-0.608;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=2.41;GERP++_RS_rankscore=0.285;phyloP100way_vertebrate=2.343;phyloP100way_vertebrate_rankscore=0.434;phyloP20way_mammalian=0.690;phyloP20way_mammalian_rankscore=0.297;phastCons100way_vertebrate=0.081;phastCons100way_vertebrate_rankscore=0.222;phastCons20way_mammalian=0.409;phastCons20way_mammalian_rankscore=0.256;SiPhy_29way_logOdds=9.832;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035945|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500675|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.919332;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549229 rs143709408 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21983;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon2:c.C458T:p.T153M,KCNQ1:NM_181798:exon2:c.C77T:p.T26M;1000g2015aug_all=0.000399361;GWAS=rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443;ORegAnno_REGULATORY_P=rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443;avsnp150=rs143709408;CLNALLELEID=77971;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.071;SIFT_converted_rankscore=0.450;SIFT_pred=T;Polyphen2_HDIV_score=0.397;Polyphen2_HDIV_rankscore=0.462;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.430;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.331;LRT_pred=N;MutationTaster_score=0.870;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_score_rankscore=0.430;MutationAssessor_pred=L;FATHMM_score=-4.64;FATHMM_converted_rankscore=0.979;FATHMM_pred=D;PROVEAN_score=-2.38;PROVEAN_converted_rankscore=0.524;PROVEAN_pred=N;VEST3_score=0.723;VEST3_rankscore=0.755;MetaSVM_score=0.847;MetaSVM_rankscore=0.950;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.241;M-CAP_rankscore=0.887;M-CAP_pred=D;REVEL_score=0.739;REVEL_rankscore=0.911;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.595;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.993;DANN_rankscore=0.585;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.091;Eigen-PC-raw=0.122;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.439;integrated_fitCons_score=0.515;integrated_fitCons_score_rankscore=0.199;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=2.194;phyloP100way_vertebrate_rankscore=0.421;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.962;phastCons100way_vertebrate_rankscore=0.335;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.135;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=0.0003;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933882;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549230 rs148121889 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon2:c.G459A:p.T153T,KCNQ1:NM_181798:exon2:c.G78A:p.T26T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148121889;CLNALLELEID=141715;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0018;AF_male=0.0016;AF_female=0.0010;AF_raw=0.0013;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.001216;Kaviar_AC=188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933882;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549257 rs28730664 C T 100 PASS AC=1;AF=0.0171725;AN=214;NS=2504;DP=21752;EAS_AF=0.005;AMR_AF=0.0014;AFR_AF=0.0348;EUR_AF=0.001;SAS_AF=0.0337;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730664;CLNALLELEID=175840;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0342;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0.0057;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0197;AF=0.0105;AF_popmax=0.0355;AF_male=0.0117;AF_female=0.0089;AF_raw=0.0105;AF_afr=0.0355;AF_sas=.;AF_amr=0;AF_eas=0.0071;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0358;non_neuro_AF_popmax=0.0316;non_cancer_AF_popmax=.;controls_AF_popmax=0.0323;Kaviar_AF=0.0060543;Kaviar_AC=936;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.111971;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549329 rs145292450 TGG T 100 PASS AC=118;AF=0.593251;AN=214;NS=2504;DP=19211;EAS_AF=0.7103;AMR_AF=0.6614;AFR_AF=0.4728;EUR_AF=0.6163;SAS_AF=0.5634;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.593251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145292450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6205;AF_popmax=0.7081;AF_male=0.6200;AF_female=0.6210;AF_raw=0.6206;AF_afr=0.5249;AF_sas=.;AF_amr=0.6288;AF_eas=0.7081;AF_nfe=0.6613;AF_fin=0.6447;AF_asj=0.5207;AF_oth=0.6236;non_topmed_AF_popmax=0.7081;non_neuro_AF_popmax=0.7081;non_cancer_AF_popmax=.;controls_AF_popmax=0.7;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.602069,95.635312;ALLELE_END GT 1|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 1|0 0|1 1|1 1|0 1|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|1 0|1 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 +11 2591802 rs141367284 T G 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=15321;EAS_AF=0;AMR_AF=0;AFR_AF=0.0151;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141367284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0074;AF_male=0.0025;AF_female=0.0024;AF_raw=0.0024;AF_afr=0.0074;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.0016136;Kaviar_AC=42;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.064096;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2591893 rs139042529 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon3:c.C513T:p.Y171Y,KCNQ1:NM_181798:exon3:c.C132T:p.Y44Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139042529;CLNALLELEID=175700;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921392;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2592033 rs200068710 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17452;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200068710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0012;AF_popmax=0.0019;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.707256;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +11 2593185 rs7128407 C T 100 PASS AC=1;AF=0.00658946;AN=214;NS=2504;DP=17447;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0249;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7128407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0237;AF_popmax=0.0282;AF_male=0.0221;AF_female=0.0256;AF_raw=0.0239;AF_afr=0.0025;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0697;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0424;Kaviar_AF=0.0140234;Kaviar_AC=365;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.914149;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2593416 rs12786951 A G 100 PASS AC=58;AF=0.328874;AN=214;NS=2504;DP=14967;EAS_AF=0.5724;AMR_AF=0.4179;AFR_AF=0.1172;EUR_AF=0.2535;SAS_AF=0.3783;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.328874;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12786951;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2264;AF_popmax=0.5685;AF_male=0.2292;AF_female=0.2228;AF_raw=0.2264;AF_afr=0.1377;AF_sas=.;AF_amr=0.3986;AF_eas=0.5685;AF_nfe=0.2313;AF_fin=0.2223;AF_asj=0.2276;AF_oth=0.2546;non_topmed_AF_popmax=0.5695;non_neuro_AF_popmax=0.5685;non_cancer_AF_popmax=.;controls_AF_popmax=0.5694;Kaviar_AF=0.290303;Kaviar_AC=7556;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.111065;ALLELE_END GT 0|1 0|1 0|0 1|0 0|1 0|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594037 rs199621723 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199621723;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=5.826e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.247e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.526e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.009946;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594106 rs189991547 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18693;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon6:c.C811T:p.L271L,KCNQ1:NM_181798:exon6:c.C430T:p.L144L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189991547;CLNALLELEID=141704;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920096;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594268 rs150132041 T G 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=17719;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150132041;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0039;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0005;AF=0.0031;AF_popmax=0.0052;AF_male=0.0034;AF_female=0.0028;AF_raw=0.0031;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0052;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0042108;Kaviar_AC=651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2606519 rs1805118 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19965;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon8:c.G1110A:p.A370A,KCNQ1:NM_181798:exon8:c.G729A:p.A243A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805118;CLNALLELEID=197473;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0042;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0006;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942483;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2606621 rs56413900 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 +11 2609919 rs201207429 A G 100 PASS 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GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683152 rs739502 T G 100 PASS AC=38;AF=0.305112;AN=214;NS=2504;DP=17522;EAS_AF=0.2966;AMR_AF=0.2464;AFR_AF=0.4697;EUR_AF=0.2406;SAS_AF=0.1994;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305112;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs739502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0923;ExAC_nontcga_ALL=0.1246;ExAC_nontcga_AFR=0.3984;ExAC_nontcga_AMR=0.0730;ExAC_nontcga_EAS=0.0536;ExAC_nontcga_FIN=0.1119;ExAC_nontcga_NFE=0.0938;ExAC_nontcga_OTH=0.1291;ExAC_nontcga_SAS=0.1507;AF=0.1773;AF_popmax=0.3906;AF_male=0.1795;AF_female=0.1746;AF_raw=0.1775;AF_afr=0.3906;AF_sas=.;AF_amr=0.0884;AF_eas=0.0546;AF_nfe=0.0956;AF_fin=0.1014;AF_asj=0.0897;AF_oth=0.1433;non_topmed_AF_popmax=0.3911;non_neuro_AF_popmax=0.3886;non_cancer_AF_popmax=.;controls_AF_popmax=0.3861;Kaviar_AF=0.119449;Kaviar_AC=18467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.193237;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 +11 2683177 rs28730758 C T 100 PASS AC=4;AF=0.0129792;AN=214;NS=2504;DP=17370;EAS_AF=0.0347;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730758;CLNALLELEID=51655;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0138;ExAC_nontcga_ALL=0.0101;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.0439;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0027;AF=0.0105;AF_popmax=0.0429;AF_male=0.0112;AF_female=0.0097;AF_raw=0.0105;AF_afr=0.0029;AF_sas=.;AF_amr=0.0059;AF_eas=0.0429;AF_nfe=0.0136;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0427;non_neuro_AF_popmax=0.0429;non_cancer_AF_popmax=.;controls_AF_popmax=0.0404;Kaviar_AF=0.0113259;Kaviar_AC=1751;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940676;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683329 rs12577654 C T 100 PASS AC=2;AF=0.0191693;AN=214;NS=2504;DP=15130;EAS_AF=0.0268;AMR_AF=0;AFR_AF=0.0174;EUR_AF=0.002;SAS_AF=0.045;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12577654;CLNALLELEID=45098;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0104;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0379;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0446;AF=0.0051;AF_popmax=0.0404;AF_male=0.0056;AF_female=0.0045;AF_raw=0.0051;AF_afr=0.0096;AF_sas=.;AF_amr=0;AF_eas=0.0404;AF_nfe=6.483e-05;AF_fin=0.0023;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0408;non_neuro_AF_popmax=0.0404;non_cancer_AF_popmax=.;controls_AF_popmax=0.0361;Kaviar_AF=0.008952;Kaviar_AC=1384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.228112;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683357 rs760419 A G 100 PASS AC=88;AF=0.519768;AN=214;NS=2504;DP=13767;EAS_AF=0.3313;AMR_AF=0.366;AFR_AF=0.8578;EUR_AF=0.4523;SAS_AF=0.4356;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs760419;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4637;ExAC_nontcga_ALL=0.4467;ExAC_nontcga_AFR=0.8051;ExAC_nontcga_AMR=0.2944;ExAC_nontcga_EAS=0.3186;ExAC_nontcga_FIN=0.4853;ExAC_nontcga_NFE=0.4504;ExAC_nontcga_OTH=0.4116;ExAC_nontcga_SAS=0.3874;AF=0.5533;AF_popmax=0.8096;AF_male=0.5536;AF_female=0.5530;AF_raw=0.5530;AF_afr=0.8096;AF_sas=.;AF_amr=0.3137;AF_eas=0.3085;AF_nfe=0.4665;AF_fin=0.4931;AF_asj=0.3785;AF_oth=0.5074;non_topmed_AF_popmax=0.8096;non_neuro_AF_popmax=0.8166;non_cancer_AF_popmax=.;controls_AF_popmax=0.8105;Kaviar_AF=0.441094;Kaviar_AC=68194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|1 1|0 1|1 1|0 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 0|1 0|1 1|1 1|1 0|0 0|1 0|0 1|1 1|1 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|0 1|1 1|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 1|0 0|0 0|1 0|1 1|1 0|0 0|0 +11 2683361 rs199948521 C G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13817;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199948521;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0017;AF_raw=0.0012;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0013195;Kaviar_AC=204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2790019 rs2075870 G A 100 PASS AC=8;AF=0.0908546;AN=214;NS=2504;DP=19866;EAS_AF=0.2073;AMR_AF=0.0331;AFR_AF=0.0855;EUR_AF=0.0229;SAS_AF=0.089;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0908546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2075870;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0305;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0543;AF_popmax=0.1946;AF_male=0.0572;AF_female=0.0506;AF_raw=0.0546;AF_afr=0.1027;AF_sas=.;AF_amr=0.0283;AF_eas=0.1946;AF_nfe=0.0256;AF_fin=0.0066;AF_asj=0.1034;AF_oth=0.0331;non_topmed_AF_popmax=0.1929;non_neuro_AF_popmax=0.1946;non_cancer_AF_popmax=.;controls_AF_popmax=0.2093;Kaviar_AF=0.0080788;Kaviar_AC=1249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2790163 rs11024034 T C 100 PASS AC=41;AF=0.0461262;AN=214;NS=2504;DP=20354;EAS_AF=0;AMR_AF=0.0461;AFR_AF=0.0113;EUR_AF=0.1282;SAS_AF=0.0562;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0461262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11024034;CLNALLELEID=45099;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1172;ExAC_nontcga_ALL=0.0846;ExAC_nontcga_AFR=0.0187;ExAC_nontcga_AMR=0.0415;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1065;ExAC_nontcga_NFE=0.1177;ExAC_nontcga_OTH=0.1061;ExAC_nontcga_SAS=0.0714;AF=0.0759;AF_popmax=0.1083;AF_male=0.0778;AF_female=0.0736;AF_raw=0.0761;AF_afr=0.0175;AF_sas=.;AF_amr=0.0566;AF_eas=0;AF_nfe=0.1083;AF_fin=0.1048;AF_asj=0.1345;AF_oth=0.1002;non_topmed_AF_popmax=0.1081;non_neuro_AF_popmax=0.1076;non_cancer_AF_popmax=.;controls_AF_popmax=0.1047;Kaviar_AF=0.0867712;Kaviar_AC=13415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 +11 2797197 rs574321120 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19277;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1598A:p.R533Q,KCNQ1:NM_181798:exon13:c.G1217A:p.R406Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574321120;CLNALLELEID=437883;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.042;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.815;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.22;Polyphen2_HVAR_rankscore=0.498;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.452;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.493;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-6.37;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-2.9;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=D;VEST3_score=0.545;VEST3_rankscore=0.706;MetaSVM_score=1.050;MetaSVM_rankscore=0.981;MetaSVM_pred=D;MetaLR_score=0.977;MetaLR_rankscore=0.993;MetaLR_pred=D;M-CAP_score=0.898;M-CAP_rankscore=0.992;M-CAP_pred=D;REVEL_score=0.758;REVEL_rankscore=0.919;MutPred_score=0.516;MutPred_rankscore=0.617;CADD_raw=5.912;CADD_raw_rankscore=0.811;CADD_phred=27.5;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.387;Eigen-PC-raw=0.363;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.78;GERP++_RS_rankscore=0.425;phyloP100way_vertebrate=4.394;phyloP100way_vertebrate_rankscore=0.592;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.952;phastCons20way_mammalian_rankscore=0.428;SiPhy_29way_logOdds=13.499;SiPhy_29way_logOdds_rankscore=0.607;Interpro_domain=Potassium_channel,_voltage_dependent,_KCNQ,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.737e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937482;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2797237 rs1057128 G A 100 PASS AC=35;AF=0.180911;AN=214;NS=2504;DP=18625;EAS_AF=0.2927;AMR_AF=0.33;AFR_AF=0.0106;EUR_AF=0.1978;SAS_AF=0.1728;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1638A:p.S546S,KCNQ1:NM_181798:exon13:c.G1257A:p.S419S;1000g2015aug_all=0.180911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1057128;CLNALLELEID=51658;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1932;ExAC_nontcga_ALL=0.2657;ExAC_nontcga_AFR=0.0604;ExAC_nontcga_AMR=0.4819;ExAC_nontcga_EAS=0.4032;ExAC_nontcga_FIN=0.3558;ExAC_nontcga_NFE=0.3016;ExAC_nontcga_OTH=0.2552;ExAC_nontcga_SAS=0.2042;AF=0.1658;AF_popmax=0.3384;AF_male=0.1657;AF_female=0.1658;AF_raw=0.1657;AF_afr=0.0459;AF_sas=.;AF_amr=0.3384;AF_eas=0.2927;AF_nfe=0.2038;AF_fin=0.1931;AF_asj=0.1414;AF_oth=0.1878;non_topmed_AF_popmax=0.3407;non_neuro_AF_popmax=0.3393;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.936874;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2797320 rs163150 A G 100 PASS AC=149;AF=0.668331;AN=214;NS=2504;DP=15900;EAS_AF=0.7073;AMR_AF=0.5663;AFR_AF=0.612;EUR_AF=0.6789;SAS_AF=0.7658;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.668331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs163150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6891;ExAC_nontcga_ALL=0.6951;ExAC_nontcga_AFR=0.6089;ExAC_nontcga_AMR=0.5851;ExAC_nontcga_EAS=0.7222;ExAC_nontcga_FIN=0.8023;ExAC_nontcga_NFE=0.6895;ExAC_nontcga_OTH=0.7213;ExAC_nontcga_SAS=0.7247;AF=0.6687;AF_popmax=0.7085;AF_male=0.6670;AF_female=0.6709;AF_raw=0.6684;AF_afr=0.6129;AF_sas=.;AF_amr=0.5767;AF_eas=0.7085;AF_nfe=0.6854;AF_fin=0.7335;AF_asj=0.6828;AF_oth=0.6823;non_topmed_AF_popmax=0.7111;non_neuro_AF_popmax=0.7085;non_cancer_AF_popmax=.;controls_AF_popmax=0.7097;Kaviar_AF=0.428591;Kaviar_AC=66261;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.805043;ALLELE_END GT 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 0|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 2798305 rs81204 T C 100 PASS AC=54;AF=0.223842;AN=214;NS=2504;DP=16610;EAS_AF=0.2688;AMR_AF=0.2334;AFR_AF=0.1445;EUR_AF=0.2455;SAS_AF=0.2556;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.223842;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs81204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2302;ExAC_nontcga_ALL=0.2280;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1846;ExAC_nontcga_EAS=0.2671;ExAC_nontcga_FIN=0.2577;ExAC_nontcga_NFE=0.2408;ExAC_nontcga_OTH=0.2401;ExAC_nontcga_SAS=0.2267;AF=0.2182;AF_popmax=0.2713;AF_male=0.2126;AF_female=0.2252;AF_raw=0.2182;AF_afr=0.1427;AF_sas=.;AF_amr=0.2175;AF_eas=0.2713;AF_nfe=0.2473;AF_fin=0.2497;AF_asj=0.2;AF_oth=0.2376;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2713;non_cancer_AF_popmax=.;controls_AF_popmax=0.2717;Kaviar_AF=0.221019;Kaviar_AC=34170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000952519|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 +11 2798341 rs192106291 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17332;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192106291;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000952519|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799211 rs200476771 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon15:c.A1738G:p.S580G,KCNQ1:NM_181798:exon15:c.A1357G:p.S453G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200476771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.203;SIFT_converted_rankscore=0.201;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.302;LRT_pred=N;MutationTaster_score=0.573;MutationTaster_converted_rankscore=0.323;MutationTaster_pred=D;MutationAssessor_score=1.265;MutationAssessor_score_rankscore=0.321;MutationAssessor_pred=L;FATHMM_score=-6.44;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-0.01;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.607;VEST3_rankscore=0.631;MetaSVM_score=1.106;MetaSVM_rankscore=0.998;MetaSVM_pred=D;MetaLR_score=0.928;MetaLR_rankscore=0.976;MetaLR_pred=D;M-CAP_score=0.830;M-CAP_rankscore=0.987;M-CAP_pred=D;REVEL_score=0.649;REVEL_rankscore=0.869;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.782;CADD_raw_rankscore=0.169;CADD_phred=9.355;DANN_score=0.854;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.534;fathmm-MKL_coding_rankscore=0.291;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.471;Eigen-PC-raw=-0.380;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=3.11;GERP++_RS_rankscore=0.347;phyloP100way_vertebrate=2.904;phyloP100way_vertebrate_rankscore=0.482;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.957;phastCons20way_mammalian_rankscore=0.436;SiPhy_29way_logOdds=5.038;SiPhy_29way_logOdds_rankscore=0.137;Interpro_domain=Potassium_channel,_voltage_dependent,_KCNQ,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.902951;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799299 rs41282928 G T 100 PASS AC=9;AF=0.0133786;AN=214;NS=2504;DP=15642;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0015;EUR_AF=0.0398;SAS_AF=0.0072;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41282928;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0511;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0728;ExAC_nontcga_NFE=0.0475;ExAC_nontcga_OTH=0.0440;ExAC_nontcga_SAS=0.0100;AF=0.0429;AF_popmax=0.0613;AF_male=0.0416;AF_female=0.0446;AF_raw=0.0431;AF_afr=0.0074;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0613;AF_fin=0.0749;AF_asj=0.0069;AF_oth=0.0450;non_topmed_AF_popmax=0.0642;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0745;Kaviar_AF=0.0346373;Kaviar_AC=5355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.401843;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799369 rs55771042 C G 100 PASS AC=7;AF=0.0155751;AN=214;NS=2504;DP=12967;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0258;SAS_AF=0.0409;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55771042;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0187;AF_popmax=0.0285;AF_male=0.0192;AF_female=0.0181;AF_raw=0.0186;AF_afr=0.0062;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0285;AF_fin=0.0147;AF_asj=0.0448;AF_oth=0.0147;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0288;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0214;Kaviar_AC=557;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.643325;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 2799380 rs150950451 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=13575;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150950451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0015;AF_male=0.0010;AF_female=0.0005;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.577914;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2869002 rs147091980 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16381;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.G1800A:p.T600T,KCNQ1:NM_181798:exon16:c.G1419A:p.T473T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147091980;CLNALLELEID=174724;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1493654|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.887308;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +11 2869188 rs11601907 C T 100 PASS AC=45;AF=0.0832668;AN=214;NS=2504;DP=13923;EAS_AF=0;AMR_AF=0.1081;AFR_AF=0.0242;EUR_AF=0.2386;SAS_AF=0.0716;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11601907;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2328;ExAC_nontcga_ALL=0.2572;ExAC_nontcga_AFR=0.0759;ExAC_nontcga_AMR=0.2060;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.4646;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.2340;ExAC_nontcga_SAS=0.1258;AF=0.1891;AF_popmax=0.2683;AF_male=0.1868;AF_female=0.1920;AF_raw=0.1896;AF_afr=0.05;AF_sas=.;AF_amr=0.1344;AF_eas=0.0006;AF_nfe=0.2683;AF_fin=0.2738;AF_asj=0.2034;AF_oth=0.2245;non_topmed_AF_popmax=0.2715;non_neuro_AF_popmax=0.2687;non_cancer_AF_popmax=.;controls_AF_popmax=0.2858;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1493654|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.891667;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 1|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +11 6625566 rs114115159 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon1:c.A65G:p.N22S,ILK:NM_001014794:exon2:c.A65G:p.N22S,ILK:NM_001278441:exon2:c.A65G:p.N22S,ILK:NM_004517:exon2:c.A65G:p.N22S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114115159;CLNALLELEID=198363;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.274;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.64;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.243;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.081;MetaSVM_score=-0.873;MetaSVM_rankscore=0.504;MetaSVM_pred=T;MetaLR_score=0.155;MetaLR_rankscore=0.486;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.470;M-CAP_pred=T;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.601;CADD_raw_rankscore=0.374;CADD_phred=20.2;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.202;Eigen-PC-raw=0.339;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=8.444;phyloP100way_vertebrate_rankscore=0.901;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.714;SiPhy_29way_logOdds_rankscore=0.563;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0013842;Kaviar_AC=214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000036315|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247960|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.674504;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6629332 rs201499797 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon2:c.T146C:p.V49A,ILK:NM_001014794:exon3:c.T146C:p.V49A,ILK:NM_001278441:exon3:c.T146C:p.V49A,ILK:NM_004517:exon3:c.T146C:p.V49A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201499797;CLNALLELEID=425940;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.64;Polyphen2_HDIV_rankscore=0.385;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.558;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.655;PROVEAN_pred=N;VEST3_score=0.693;VEST3_rankscore=0.768;MetaSVM_score=-0.390;MetaSVM_rankscore=0.724;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_rankscore=0.715;MetaLR_pred=T;M-CAP_score=0.056;M-CAP_rankscore=0.666;M-CAP_pred=D;REVEL_score=0.529;REVEL_rankscore=0.804;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.622;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.887;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.865;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.490;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=7.523;phyloP100way_vertebrate_rankscore=0.806;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.351;SiPhy_29way_logOdds_rankscore=0.740;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.343153;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6629665 rs1043388 C T 100 PASS AC=58;AF=0.314696;AN=214;NS=2504;DP=24191;EAS_AF=0.3512;AMR_AF=0.2608;AFR_AF=0.4153;EUR_AF=0.2535;SAS_AF=0.2423;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H;1000g2015aug_all=0.314696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1043388;CLNALLELEID=141291;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.25;ExAC_nontcga_ALL=0.2662;ExAC_nontcga_AFR=0.3857;ExAC_nontcga_AMR=0.2048;ExAC_nontcga_EAS=0.3421;ExAC_nontcga_FIN=0.2525;ExAC_nontcga_NFE=0.2626;ExAC_nontcga_OTH=0.2363;ExAC_nontcga_SAS=0.2245;AF=0.2950;AF_popmax=0.3783;AF_male=0.2929;AF_female=0.2976;AF_raw=0.2951;AF_afr=0.3783;AF_sas=.;AF_amr=0.2052;AF_eas=0.3419;AF_nfe=0.2617;AF_fin=0.2425;AF_asj=0.3207;AF_oth=0.2638;non_topmed_AF_popmax=0.3791;non_neuro_AF_popmax=0.3783;non_cancer_AF_popmax=.;controls_AF_popmax=0.3759;Kaviar_AF=0.265527;Kaviar_AC=41051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 0|0 1|1 1|1 +11 6630028 rs11314683 TC T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=20388;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=CCCC|CCCCC|CCCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11314683;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11314683;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 6630043 rs543104710 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543104710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.079;CADD_raw_rankscore=0.086;CADD_phred=1.890;DANN_score=0.665;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.283;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.388;Eigen-PC-raw=0.308;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.406;integrated_fitCons_score_rankscore=0.055;integrated_confidence_value=1;GERP++_RS=1.31;GERP++_RS_rankscore=0.207;phyloP100way_vertebrate=-0.029;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.216;phyloP20way_mammalian_rankscore=0.099;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.558;SiPhy_29way_logOdds_rankscore=0.115;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543104710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.079;CADD_raw_rankscore=0.086;CADD_phred=1.890;DANN_score=0.665;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.283;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.388;Eigen-PC-raw=0.308;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.406;integrated_fitCons_score_rankscore=0.055;integrated_confidence_value=1;GERP++_RS=1.31;GERP++_RS_rankscore=0.207;phyloP100way_vertebrate=-0.029;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.216;phyloP20way_mammalian_rankscore=0.099;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.558;SiPhy_29way_logOdds_rankscore=0.115;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6630410 rs11826498 T C 100 PASS AC=51;AF=0.120807;AN=214;NS=2504;DP=21261;EAS_AF=0.0804;AMR_AF=0.183;AFR_AF=0.0204;EUR_AF=0.2565;SAS_AF=0.1145;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11826498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2548;ExAC_nontcga_ALL=0.2051;ExAC_nontcga_AFR=0.0543;ExAC_nontcga_AMR=0.2076;ExAC_nontcga_EAS=0.1065;ExAC_nontcga_FIN=0.2881;ExAC_nontcga_NFE=0.2550;ExAC_nontcga_OTH=0.2190;ExAC_nontcga_SAS=0.1339;AF=0.1955;AF_popmax=0.2600;AF_male=0.1904;AF_female=0.2018;AF_raw=0.1957;AF_afr=0.0573;AF_sas=.;AF_amr=0.1887;AF_eas=0.0974;AF_nfe=0.2600;AF_fin=0.2909;AF_asj=0.1931;AF_oth=0.2302;non_topmed_AF_popmax=0.2647;non_neuro_AF_popmax=0.2577;non_cancer_AF_popmax=.;controls_AF_popmax=0.2666;Kaviar_AF=0.205761;Kaviar_AC=31811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 6630524 rs149710421 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20951;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149710421;CLNALLELEID=241205;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0010;AF=0.0003;AF_popmax=0.0004;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.000705;Kaviar_AC=109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6630833 rs1043390 G A 100 PASS AC=59;AF=0.347444;AN=214;NS=2504;DP=22842;EAS_AF=0.3492;AMR_AF=0.2651;AFR_AF=0.5303;EUR_AF=0.2555;SAS_AF=0.2515;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P;1000g2015aug_all=0.347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1043390;CLNALLELEID=141293;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2514;ExAC_nontcga_ALL=0.2766;ExAC_nontcga_AFR=0.4806;ExAC_nontcga_AMR=0.2096;ExAC_nontcga_EAS=0.3440;ExAC_nontcga_FIN=0.2528;ExAC_nontcga_NFE=0.2634;ExAC_nontcga_OTH=0.2421;ExAC_nontcga_SAS=0.2326;AF=0.3218;AF_popmax=0.4732;AF_male=0.3213;AF_female=0.3225;AF_raw=0.3220;AF_afr=0.4732;AF_sas=.;AF_amr=0.2057;AF_eas=0.3426;AF_nfe=0.2621;AF_fin=0.2432;AF_asj=0.3207;AF_oth=0.2699;non_topmed_AF_popmax=0.4741;non_neuro_AF_popmax=0.4742;non_cancer_AF_popmax=.;controls_AF_popmax=0.4735;Kaviar_AF=0.275398;Kaviar_AC=42577;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 0|0 1|1 1|1 +11 6630962 rs147558204 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C681T:p.V227V,ILK:NM_001014795:exon9:c.C864T:p.V288V,ILK:NM_001278442:exon9:c.C462T:p.V154V,ILK:NM_001014794:exon10:c.C864T:p.V288V,ILK:NM_004517:exon10:c.C864T:p.V288V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147558204;CLNALLELEID=503360;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000419|hsa-miR-27b-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6631016 rs2292195 C T 100 PASS AC=51;AF=0.160144;AN=214;NS=2504;DP=21063;EAS_AF=0.0833;AMR_AF=0.2219;AFR_AF=0.1256;EUR_AF=0.2575;SAS_AF=0.1421;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;1000g2015aug_all=0.160144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2292195;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2647;ExAC_nontcga_ALL=0.2251;ExAC_nontcga_AFR=0.1509;ExAC_nontcga_AMR=0.2449;ExAC_nontcga_EAS=0.1106;ExAC_nontcga_FIN=0.2913;ExAC_nontcga_NFE=0.2599;ExAC_nontcga_OTH=0.2277;ExAC_nontcga_SAS=0.1655;AF=0.2270;AF_popmax=0.2683;AF_male=0.2241;AF_female=0.2307;AF_raw=0.2272;AF_afr=0.1481;AF_sas=.;AF_amr=0.2276;AF_eas=0.1019;AF_nfe=0.2683;AF_fin=0.2942;AF_asj=0.2034;AF_oth=0.2422;non_topmed_AF_popmax=0.2727;non_neuro_AF_popmax=0.2667;non_cancer_AF_popmax=.;controls_AF_popmax=0.2757;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.230038::0.178556;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 6631300 rs41310330 G A 100 PASS AC=8;AF=0.00579073;AN=214;NS=2504;DP=20909;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0023;EUR_AF=0.0179;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41310330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0030;AF=0.0084;AF_popmax=0.0128;AF_male=0.0084;AF_female=0.0085;AF_raw=0.0084;AF_afr=0.0020;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0086;AF_asj=0.0241;AF_oth=0.0046;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0133;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0113647;Kaviar_AC=1757;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +11 6631561 rs145787931 A C 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=21196;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145787931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0047;AF_male=0.0021;AF_female=0.0008;AF_raw=0.0015;AF_afr=0.0007;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.002031;Kaviar_AC=314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1258265|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19204403 rs45549043 A G 100 PASS AC=43;AF=0.155152;AN=214;NS=2504;DP=18183;EAS_AF=0.0427;AMR_AF=0.1196;AFR_AF=0.2829;EUR_AF=0.2008;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45549043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2095;AF_popmax=0.2761;AF_male=0.2072;AF_female=0.2124;AF_raw=0.2097;AF_afr=0.2761;AF_sas=.;AF_amr=0.1014;AF_eas=0.0625;AF_nfe=0.1940;AF_fin=0.2121;AF_asj=0.1759;AF_oth=0.1924;non_topmed_AF_popmax=0.2769;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2808;Kaviar_AF=0.034204;Kaviar_AC=5288;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +11 19206426 rs2288251 A T 100 PASS AC=57;AF=0.300919;AN=214;NS=2504;DP=21351;EAS_AF=0.1022;AMR_AF=0.2176;AFR_AF=0.6082;EUR_AF=0.2416;SAS_AF=0.2106;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.300919;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3054;AF_popmax=0.5279;AF_male=0.3071;AF_female=0.3033;AF_raw=0.3055;AF_afr=0.5279;AF_sas=.;AF_amr=0.1809;AF_eas=0.1284;AF_nfe=0.2414;AF_fin=0.1623;AF_asj=0.2310;AF_oth=0.2606;non_topmed_AF_popmax=0.5275;non_neuro_AF_popmax=0.5118;non_cancer_AF_popmax=.;controls_AF_popmax=0.5137;Kaviar_AF=0.0516423;Kaviar_AC=7984;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.688190;ALLELE_END GT 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 +11 19207841 rs13451 C T 100 PASS AC=28;AF=0.0427316;AN=214;NS=2504;DP=22172;EAS_AF=0.0069;AMR_AF=0.0519;AFR_AF=0.0038;EUR_AF=0.1103;SAS_AF=0.0562;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon5:c.G336A:p.A112A;1000g2015aug_all=0.0427316;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13451;CLNALLELEID=53863;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1073;ExAC_nontcga_ALL=0.0808;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0382;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.1158;ExAC_nontcga_NFE=0.1143;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0588;AF=0.0702;AF_popmax=0.0982;AF_male=0.0693;AF_female=0.0713;AF_raw=0.0703;AF_afr=0.0178;AF_sas=.;AF_amr=0.0366;AF_eas=0.0013;AF_nfe=0.0982;AF_fin=0.1018;AF_asj=0.1138;AF_oth=0.1041;non_topmed_AF_popmax=0.0956;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.0927;Kaviar_AF=0.0830002;Kaviar_AC=12832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000070|hsa-miR-17-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546454;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19209640 rs45602431 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19853;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45602431;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0035;AF=0.0015;AF_popmax=0.0047;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0009;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000954250|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613307;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19209912 rs45599634 T A 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=18297;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45599634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0069;AF_male=0.0042;AF_female=0.0043;AF_raw=0.0043;AF_afr=0.0008;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0069;AF_fin=0.0020;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000954250|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19213986 rs45550635 A G 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=19267;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon3:c.T10C:p.W4R;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45550635;CLNALLELEID=23815;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.888;Polyphen2_HDIV_rankscore=0.468;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.657;Polyphen2_HVAR_rankscore=0.509;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=A;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-3.25;PROVEAN_converted_rankscore=0.652;PROVEAN_pred=D;VEST3_score=0.859;VEST3_rankscore=0.847;MetaSVM_score=-0.440;MetaSVM_rankscore=0.708;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.548;M-CAP_pred=D;REVEL_score=0.474;REVEL_rankscore=0.770;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.529;CADD_raw_rankscore=0.751;CADD_phred=26.3;DANN_score=0.994;DANN_rankscore=0.629;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.861;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.617;Eigen-PC-raw=0.663;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=7.402;phyloP100way_vertebrate_rankscore=0.790;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=16.203;SiPhy_29way_logOdds_rankscore=0.818;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0007;AF=0.0028;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0029;AF_raw=0.0028;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0006;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.685021;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47353498 rs2290146 G A 100 PASS AC=24;AF=0.356629;AN=214;NS=2504;DP=18310;EAS_AF=0.623;AMR_AF=0.2637;AFR_AF=0.469;EUR_AF=0.162;SAS_AF=0.1963;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.356629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2290146;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1747;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2867;AF_popmax=0.6064;AF_male=0.2926;AF_female=0.2793;AF_raw=0.2870;AF_afr=0.4331;AF_sas=.;AF_amr=0.3558;AF_eas=0.6064;AF_nfe=0.1750;AF_fin=0.2789;AF_asj=0.1586;AF_oth=0.2468;non_topmed_AF_popmax=0.6090;non_neuro_AF_popmax=0.6064;non_cancer_AF_popmax=.;controls_AF_popmax=0.6004;Kaviar_AF=0.0454199;Kaviar_AC=7022;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.219697::-0.2135;Heart_Left_Ventricle=Heart_Left_Ventricle::0.222426::-0.208487;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.840870;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47354068 rs3729802 G A 100 PASS AC=24;AF=0.341454;AN=214;NS=2504;DP=16686;EAS_AF=0.622;AMR_AF=0.2579;AFR_AF=0.4153;EUR_AF=0.162;SAS_AF=0.1963;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729802;CLNALLELEID=254187;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1646;ExAC_nontcga_ALL=0.2582;ExAC_nontcga_AFR=0.3850;ExAC_nontcga_AMR=0.4036;ExAC_nontcga_EAS=0.6104;ExAC_nontcga_FIN=0.2855;ExAC_nontcga_NFE=0.1609;ExAC_nontcga_OTH=0.2127;ExAC_nontcga_SAS=0.2269;AF=0.2705;AF_popmax=0.6050;AF_male=0.2757;AF_female=0.2640;AF_raw=0.2709;AF_afr=0.3754;AF_sas=.;AF_amr=0.3519;AF_eas=0.6050;AF_nfe=0.1753;AF_fin=0.2786;AF_asj=0.1562;AF_oth=0.2445;non_topmed_AF_popmax=0.6077;non_neuro_AF_popmax=0.6050;non_cancer_AF_popmax=.;controls_AF_popmax=0.5985;Kaviar_AF=0.240197;Kaviar_AC=37135;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::-0.202006;Heart_Left_Ventricle=Heart_Left_Ventricle::0.21875::-0.20503;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.452619;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47354787 rs1052373 C T 100 PASS AC=49;AF=0.476238;AN=214;NS=2504;DP=19715;EAS_AF=0.7202;AMR_AF=0.3329;AFR_AF=0.5083;EUR_AF=0.3072;SAS_AF=0.4571;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1052373;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3039;ExAC_nontcga_ALL=0.4822;ExAC_nontcga_AFR=0.5487;ExAC_nontcga_AMR=0.5563;ExAC_nontcga_EAS=0.7283;ExAC_nontcga_FIN=0.5246;ExAC_nontcga_NFE=0.3972;ExAC_nontcga_OTH=0.3970;ExAC_nontcga_SAS=0.5001;AF=0.3983;AF_popmax=0.6987;AF_male=0.4034;AF_female=0.3920;AF_raw=0.3986;AF_afr=0.4867;AF_sas=.;AF_amr=0.4151;AF_eas=0.6987;AF_nfe=0.3168;AF_fin=0.4221;AF_asj=0.2552;AF_oth=0.3692;non_topmed_AF_popmax=0.7011;non_neuro_AF_popmax=0.6987;non_cancer_AF_popmax=.;controls_AF_popmax=0.6901;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.344697::-0.2176;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.156785;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.864445;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 +11 47354851 rs150786409 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.C3224G:p.T1075S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150786409;CLNALLELEID=444810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.586;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.167;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_rankscore=0.256;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=0.49;FATHMM_converted_rankscore=0.558;FATHMM_pred=T;PROVEAN_score=-0.97;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.049;MetaSVM_score=-0.989;MetaSVM_rankscore=0.328;MetaSVM_pred=T;MetaLR_score=0.105;MetaLR_rankscore=0.384;MetaLR_pred=T;M-CAP_score=0.109;M-CAP_rankscore=0.787;M-CAP_pred=D;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.231;CADD_raw_rankscore=0.213;CADD_phred=11.91;DANN_score=0.810;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.114;fathmm-MKL_coding_rankscore=0.164;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.868;Eigen-PC-raw=-0.850;GenoCanyon_score=0.079;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.811;GERP++_RS_rankscore=0.178;phyloP100way_vertebrate=-0.298;phyloP100way_vertebrate_rankscore=0.082;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.301;phastCons20way_mammalian_rankscore=0.237;SiPhy_29way_logOdds=8.069;SiPhy_29way_logOdds_rankscore=0.297;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.873147;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47354905 rs11570115 T C 100 PASS AC=24;AF=0.0329473;AN=214;NS=2504;DP=17996;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.0068;EUR_AF=0.1024;SAS_AF=0.0194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570115;CLNALLELEID=186356;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1060;ExAC_nontcga_ALL=0.1055;ExAC_nontcga_AFR=0.0275;ExAC_nontcga_AMR=0.0679;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1269;ExAC_nontcga_NFE=0.1594;ExAC_nontcga_OTH=0.1233;ExAC_nontcga_SAS=0.0431;AF=0.0798;AF_popmax=0.1183;AF_male=0.0773;AF_female=0.0830;AF_raw=0.0800;AF_afr=0.0176;AF_sas=.;AF_amr=0.0603;AF_eas=0;AF_nfe=0.1183;AF_fin=0.1003;AF_asj=0.0931;AF_oth=0.0938;non_topmed_AF_popmax=0.1217;non_neuro_AF_popmax=0.1181;non_cancer_AF_popmax=.;controls_AF_popmax=0.1326;Kaviar_AF=0.0585245;Kaviar_AC=9048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.947408;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 +11 47355233 rs397516000 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18988;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon28:c.G3065C:p.R1022P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516000;CLNALLELEID=51852;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.86;MutationAssessor_score_rankscore=0.833;MutationAssessor_pred=M;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=-5.93;PROVEAN_converted_rankscore=0.890;PROVEAN_pred=D;VEST3_score=0.904;VEST3_rankscore=0.970;MetaSVM_score=0.502;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.617;MetaLR_rankscore=0.865;MetaLR_pred=D;M-CAP_score=0.885;M-CAP_rankscore=0.991;M-CAP_pred=D;REVEL_score=0.774;REVEL_rankscore=0.925;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.255;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.998;DANN_rankscore=0.883;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.935;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.923;Eigen-PC-raw=0.821;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=7.556;phyloP100way_vertebrate_rankscore=0.810;phyloP20way_mammalian=0.876;phyloP20way_mammalian_rankscore=0.383;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.899;phastCons20way_mammalian_rankscore=0.380;SiPhy_29way_logOdds=17.854;SiPhy_29way_logOdds_rankscore=0.886;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.921e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.719e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.726e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.863446;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47356644 rs554694434 G C 100 PASS AC=7;AF=0.0239617;AN=214;NS=2504;DP=13467;EAS_AF=0.0288;AMR_AF=0.0562;AFR_AF=0.0129;EUR_AF=0.0308;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon26:c.C2854G:p.P952A;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554694434;CLNALLELEID=314287;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.837;SIFT_converted_rankscore=0.029;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.863;MutationTaster_converted_rankscore=0.283;MutationTaster_pred=N;MutationAssessor_score=0.98;MutationAssessor_score_rankscore=0.250;MutationAssessor_pred=L;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.072;MetaSVM_score=-0.992;MetaSVM_rankscore=0.321;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_rankscore=0.220;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.099;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.619;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.063;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.328;Eigen-PC-raw=-1.281;GenoCanyon_score=0.672;GenoCanyon_score_rankscore=0.224;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=1.01;GERP++_RS_rankscore=0.190;phyloP100way_vertebrate=0.867;phyloP100way_vertebrate_rankscore=0.274;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.017;phastCons100way_vertebrate_rankscore=0.192;phastCons20way_mammalian=0.075;phastCons20way_mammalian_rankscore=0.178;SiPhy_29way_logOdds=4.223;SiPhy_29way_logOdds_rankscore=0.099;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.086e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.774432;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47357416 rs3729936 G A 100 PASS AC=4;AF=0.0547125;AN=214;NS=2504;DP=11315;EAS_AF=0.0496;AMR_AF=0.0029;AFR_AF=0.0522;EUR_AF=0.0249;SAS_AF=0.1309;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0547125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729936;CLNALLELEID=51823;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0257;ExAC_nontcga_ALL=0.1194;ExAC_nontcga_AFR=0.1421;ExAC_nontcga_AMR=0.0537;ExAC_nontcga_EAS=0.1243;ExAC_nontcga_FIN=0.0793;ExAC_nontcga_NFE=0.0619;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.1501;AF=0.0353;AF_popmax=0.0560;AF_male=0.0355;AF_female=0.0350;AF_raw=0.0357;AF_afr=0.0560;AF_sas=.;AF_amr=0.0153;AF_eas=0.0341;AF_nfe=0.0284;AF_fin=0.0222;AF_asj=0.0379;AF_oth=0.0258;non_topmed_AF_popmax=0.0552;non_neuro_AF_popmax=0.0577;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.0271342;Kaviar_AC=4195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.758324;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47357437 rs397515985 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11706;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon25:c.C2728A:p.P910T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397515985;CLNALLELEID=51826;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.444;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=N;MutationAssessor_score=0.385;MutationAssessor_score_rankscore=0.122;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=0.57;PROVEAN_converted_rankscore=0.026;PROVEAN_pred=N;VEST3_score=0.316;VEST3_rankscore=0.718;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.284;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.668;M-CAP_pred=D;REVEL_score=0.262;REVEL_rankscore=0.579;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.220;CADD_raw_rankscore=0.115;CADD_phred=4.891;DANN_score=0.835;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.845;Eigen-PC-raw=-0.741;GenoCanyon_score=0.979;GenoCanyon_score_rankscore=0.299;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.493;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=1.506;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.037;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.936;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.773;phastCons20way_mammalian_rankscore=0.328;SiPhy_29way_logOdds=3.261;SiPhy_29way_logOdds_rankscore=0.064;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.868602;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47358997 rs3729953 G A 100 PASS AC=4;AF=0.048123;AN=214;NS=2504;DP=18520;EAS_AF=0.0506;AMR_AF=0.0058;AFR_AF=0.0136;EUR_AF=0.0378;SAS_AF=0.1329;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon24:c.C2547T:p.V849V;1000g2015aug_all=0.048123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729953;CLNALLELEID=51808;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0351;ExAC_nontcga_ALL=0.0473;ExAC_nontcga_AFR=0.0233;ExAC_nontcga_AMR=0.0133;ExAC_nontcga_EAS=0.0382;ExAC_nontcga_FIN=0.0468;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.1219;AF=0.0357;AF_popmax=0.0413;AF_male=0.0351;AF_female=0.0364;AF_raw=0.0356;AF_afr=0.0211;AF_sas=.;AF_amr=0.0153;AF_eas=0.0359;AF_nfe=0.0413;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0341;non_topmed_AF_popmax=0.0423;non_neuro_AF_popmax=0.0419;non_cancer_AF_popmax=.;controls_AF_popmax=0.0515;Kaviar_AF=0.0437252;Kaviar_AC=6760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000430073|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915080;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47360053 rs3729948 G C 100 PASS AC=4;AF=0.0694888;AN=214;NS=2504;DP=17149;EAS_AF=0.0506;AMR_AF=0.0086;AFR_AF=0.0915;EUR_AF=0.0388;SAS_AF=0.1339;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0694888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729948;CLNALLELEID=186368;CLNDN=Familial_hypertrophic_cardiomyopathy_4|not_specified;CLNDISDB=MedGen:C1861862,OMIM:115197|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0363;ExAC_nontcga_ALL=0.0531;ExAC_nontcga_AFR=0.0877;ExAC_nontcga_AMR=0.0152;ExAC_nontcga_EAS=0.0386;ExAC_nontcga_FIN=0.0469;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0305;ExAC_nontcga_SAS=0.1196;AF=0.0538;AF_popmax=0.0833;AF_male=0.0542;AF_female=0.0533;AF_raw=0.0538;AF_afr=0.0833;AF_sas=.;AF_amr=0.0200;AF_eas=0.0359;AF_nfe=0.0424;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0396;non_topmed_AF_popmax=0.0827;non_neuro_AF_popmax=0.0842;non_cancer_AF_popmax=.;controls_AF_popmax=0.0833;Kaviar_AF=0.0497212;Kaviar_AC=7687;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461397;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47361011 rs145934688 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47361164 rs371297120 T A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19272;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371297120;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.015;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0097;ExAC_nontcga_SAS=0.0004;AF=0.0067;AF_popmax=0.0095;AF_male=0.0059;AF_female=0.0077;AF_raw=0.0067;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0150;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0119;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.785442;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47362465 rs10769254 G C 100 PASS AC=25;AF=0.340056;AN=214;NS=2504;DP=15356;EAS_AF=0.5952;AMR_AF=0.2695;AFR_AF=0.4107;EUR_AF=0.1819;SAS_AF=0.1943;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.340056;GWAS=rs10769254|Cardiovascular-disease||1E-15|PMID:30595370;ORegAnno_REGULATORY_P=rs10769254|Cardiovascular-disease||1E-15|PMID:30595370;avsnp150=rs10769254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2772;AF_popmax=0.5945;AF_male=0.2828;AF_female=0.2701;AF_raw=0.2772;AF_afr=0.3735;AF_sas=.;AF_amr=0.3561;AF_eas=0.5945;AF_nfe=0.1882;AF_fin=0.2879;AF_asj=0.1586;AF_oth=0.2486;non_topmed_AF_popmax=0.5975;non_neuro_AF_popmax=0.5945;non_cancer_AF_popmax=.;controls_AF_popmax=0.5910;Kaviar_AF=0.246158;Kaviar_AC=6407;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.229167::-0.192996;Heart_Left_Ventricle=Heart_Left_Ventricle::0.233456::-0.187645;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.364232;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47362642 rs11570086 C T 100 PASS AC=6;AF=0.00898562;AN=214;NS=2504;DP=16137;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0318;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0192;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0127;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0216;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0265;ExAC_nontcga_SAS=0.0028;AF=0.0157;AF_popmax=0.0229;AF_male=0.0155;AF_female=0.0159;AF_raw=0.0157;AF_afr=0.0031;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0229;AF_fin=0.0219;AF_asj=0.0103;AF_oth=0.0248;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0122508;Kaviar_AC=1894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.026346;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0192;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0127;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0216;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0265;ExAC_nontcga_SAS=0.0028;AF=0.0157;AF_popmax=0.0229;AF_male=0.0155;AF_female=0.0159;AF_raw=0.0157;AF_afr=0.0031;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0229;AF_fin=0.0219;AF_asj=0.0103;AF_oth=0.0248;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0122508;Kaviar_AC=1894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.026346;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47364187 rs376041792 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19971;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.G1566A:p.A522A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376041792;CLNALLELEID=51716;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.750641;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47364762 rs896818 A G 100 PASS AC=214;AF=0.964058;AN=214;NS=2504;DP=13289;EAS_AF=1;AMR_AF=0.9827;AFR_AF=0.8729;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.964058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs896818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9982;ExAC_nontcga_ALL=0.9904;ExAC_nontcga_AFR=0.8918;ExAC_nontcga_AMR=0.9929;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9989;ExAC_nontcga_OTH=0.9948;ExAC_nontcga_SAS=0.9994;AF=0.9707;AF_popmax=1;AF_male=0.9688;AF_female=0.9732;AF_raw=0.9707;AF_afr=0.8980;AF_sas=.;AF_amr=0.9882;AF_eas=1;AF_nfe=0.9992;AF_fin=1;AF_asj=0.9966;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941696;Kaviar_AC=145588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.831149;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 47365014 rs11570078 C T 100 PASS AC=27;AF=0.0782748;AN=214;NS=2504;DP=9073;EAS_AF=0.0496;AMR_AF=0.085;AFR_AF=0.0212;EUR_AF=0.1382;SAS_AF=0.1186;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570078;CLNALLELEID=186391;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1174;ExAC_nontcga_ALL=0.1501;ExAC_nontcga_AFR=0.0448;ExAC_nontcga_AMR=0.0870;ExAC_nontcga_EAS=0.0643;ExAC_nontcga_FIN=0.1905;ExAC_nontcga_NFE=0.1836;ExAC_nontcga_OTH=0.1582;ExAC_nontcga_SAS=0.1473;AF=0.0895;AF_popmax=0.1177;AF_male=0.0879;AF_female=0.0914;AF_raw=0.0895;AF_afr=0.0318;AF_sas=.;AF_amr=0.0519;AF_eas=0.0540;AF_nfe=0.1177;AF_fin=0.1264;AF_asj=0.0799;AF_oth=0.1157;non_topmed_AF_popmax=0.1157;non_neuro_AF_popmax=0.1159;non_cancer_AF_popmax=.;controls_AF_popmax=0.1082;Kaviar_AF=0.0767972;Kaviar_AC=11873;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.066008;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47365199 rs2856650 G A 100 PASS AC=68;AF=0.249601;AN=214;NS=2504;DP=8560;EAS_AF=0.2778;AMR_AF=0.415;AFR_AF=0.0477;EUR_AF=0.2913;SAS_AF=0.3333;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2856650;CLNALLELEID=186392;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3084;ExAC_nontcga_ALL=0.3165;ExAC_nontcga_AFR=0.0908;ExAC_nontcga_AMR=0.3889;ExAC_nontcga_EAS=0.3081;ExAC_nontcga_FIN=0.2819;ExAC_nontcga_NFE=0.3315;ExAC_nontcga_OTH=0.3891;ExAC_nontcga_SAS=0.3369;AF=0.2286;AF_popmax=0.3325;AF_male=0.2286;AF_female=0.2286;AF_raw=0.2318;AF_afr=0.0844;AF_sas=.;AF_amr=0.3325;AF_eas=0.2774;AF_nfe=0.2912;AF_fin=0.2464;AF_asj=0.3287;AF_oth=0.2690;non_topmed_AF_popmax=0.3258;non_neuro_AF_popmax=0.3469;non_cancer_AF_popmax=.;controls_AF_popmax=0.3333;Kaviar_AF=0.261911;Kaviar_AC=40492;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.264259::0.190381;Heart_Left_Ventricle=Heart_Left_Ventricle::0.273897::-0.252559;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.405246;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 +11 47365214 rs11570075 G A 100 PASS AC=14;AF=0.0147764;AN=214;NS=2504;DP=8655;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.0008;EUR_AF=0.0437;SAS_AF=0.0041;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0368;ExAC_nontcga_ALL=0.0283;ExAC_nontcga_AFR=0.0069;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0162;ExAC_nontcga_NFE=0.0419;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0064;AF=0.0286;AF_popmax=0.0434;AF_male=0.0278;AF_female=0.0297;AF_raw=0.0223;AF_afr=0.0110;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0434;AF_fin=0.0181;AF_asj=0.0179;AF_oth=0.0357;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0441;non_cancer_AF_popmax=.;controls_AF_popmax=0.0397;Kaviar_AF=0.0221019;Kaviar_AC=3417;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.053271;ALLELE_END GT 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +11 47367738 rs148006583 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19789;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148006583;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.810661;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47367848 rs573916965 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18296;EAS_AF=0.004;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G1000A:p.E334K;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573916965;CLNALLELEID=175197;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.874;Polyphen2_HDIV_rankscore=0.461;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.334;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.115;MutationAssessor_score_rankscore=0.881;MutationAssessor_pred=M;FATHMM_score=-0.56;FATHMM_converted_rankscore=0.724;FATHMM_pred=T;PROVEAN_score=-3.56;PROVEAN_converted_rankscore=0.688;PROVEAN_pred=D;VEST3_score=0.901;VEST3_rankscore=0.958;MetaSVM_score=-0.027;MetaSVM_rankscore=0.817;MetaSVM_pred=T;MetaLR_score=0.385;MetaLR_rankscore=0.741;MetaLR_pred=T;M-CAP_score=0.768;M-CAP_rankscore=0.982;M-CAP_pred=D;REVEL_score=0.757;REVEL_rankscore=0.918;MutPred_score=0.912;MutPred_rankscore=0.983;CADD_raw=4.875;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.999;DANN_rankscore=0.982;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.920;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.577;Eigen-PC-raw=0.581;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.570;integrated_fitCons_score_rankscore=0.322;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=7.532;phyloP100way_vertebrate_rankscore=0.807;phyloP20way_mammalian=0.934;phyloP20way_mammalian_rankscore=0.450;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=17.827;SiPhy_29way_logOdds_rankscore=0.885;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0050;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.066e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0026;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0026;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932637;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +11 47367871 rs34580776 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18729;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G977A:p.R326Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34580776;CLNALLELEID=51983;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.026;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.205;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.785;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.583;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.235;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.407;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.274;CADD_raw_rankscore=0.572;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.951;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_rankscore=0.487;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.054;Eigen-PC-raw=0.095;GenoCanyon_score=0.978;GenoCanyon_score_rankscore=0.298;integrated_fitCons_score=0.570;integrated_fitCons_score_rankscore=0.322;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=1.164;phyloP100way_vertebrate_rankscore=0.312;phyloP20way_mammalian=0.934;phyloP20way_mammalian_rankscore=0.450;phastCons100way_vertebrate=0.305;phastCons100way_vertebrate_rankscore=0.251;phastCons20way_mammalian=0.841;phastCons20way_mammalian_rankscore=0.351;SiPhy_29way_logOdds=11.343;SiPhy_29way_logOdds_rankscore=0.486;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0155;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0.0009;AF=0.0067;AF_popmax=0.0095;AF_male=0.0058;AF_female=0.0077;AF_raw=0.0067;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0150;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0194;Kaviar_AF=0.0039068;Kaviar_AC=604;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905358;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47368153 rs3729991 G T 100 PASS AC=2;AF=0.00838658;AN=214;NS=2504;DP=16131;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729991;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0242;ExAC_nontcga_ALL=0.0186;ExAC_nontcga_AFR=0.0055;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0116;AF=0.0183;AF_popmax=0.0247;AF_male=0.0175;AF_female=0.0192;AF_raw=0.0186;AF_afr=0.0056;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0247;AF_fin=0.0332;AF_asj=0.0103;AF_oth=0.0167;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0249;non_cancer_AF_popmax=.;controls_AF_popmax=0.0236;Kaviar_AF=0.0174771;Kaviar_AC=2702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.235897;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47368860 rs542981010 AAACC A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542981010;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0011;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.366485;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47369443 rs11570058 G A 100 PASS AC=26;AF=0.0611022;AN=214;NS=2504;DP=16010;EAS_AF=0.0169;AMR_AF=0.0807;AFR_AF=0.034;EUR_AF=0.1352;SAS_AF=0.0532;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570058;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1184;ExAC_nontcga_ALL=0.1594;ExAC_nontcga_AFR=0.0775;ExAC_nontcga_AMR=0.1349;ExAC_nontcga_EAS=0.0476;ExAC_nontcga_FIN=0.3043;ExAC_nontcga_NFE=0.2346;ExAC_nontcga_OTH=0.1474;ExAC_nontcga_SAS=0.0823;AF=0.0898;AF_popmax=0.1180;AF_male=0.0878;AF_female=0.0922;AF_raw=0.0900;AF_afr=0.0397;AF_sas=.;AF_amr=0.0542;AF_eas=0.0206;AF_nfe=0.1180;AF_fin=0.1247;AF_asj=0.0793;AF_oth=0.1087;non_topmed_AF_popmax=0.1158;non_neuro_AF_popmax=0.1161;non_cancer_AF_popmax=.;controls_AF_popmax=0.1081;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.777187;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47369453 rs187455402 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15846;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C776T:p.A259V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187455402;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.273;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.399;PROVEAN_pred=N;VEST3_score=0.291;VEST3_rankscore=0.387;MetaSVM_score=-0.940;MetaSVM_rankscore=0.426;MetaSVM_pred=T;MetaLR_score=0.158;MetaLR_rankscore=0.491;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.716;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.955;CADD_raw_rankscore=0.296;CADD_phred=15.93;DANN_score=0.996;DANN_rankscore=0.717;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.737;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.171;Eigen-PC-raw=-0.034;GenoCanyon_score=0.972;GenoCanyon_score_rankscore=0.293;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.64;GERP++_RS_rankscore=0.572;phyloP100way_vertebrate=5.990;phyloP100way_vertebrate_rankscore=0.701;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.563;phastCons20way_mammalian_rankscore=0.282;SiPhy_29way_logOdds=12.778;SiPhy_29way_logOdds_rankscore=0.567;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.854016;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47370041 rs3729989 T C 100 PASS 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GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47370107 rs188327777 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47370150 rs576812684 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371261 rs11570053 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=16499;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570053;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0016;AF_popmax=0.0035;AF_male=0.0018;AF_female=0.0014;AF_raw=0.0016;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.566781;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371330 rs138753870 T C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=15949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.A649G:p.S217G;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138753870;CLNALLELEID=51950;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.907;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.905;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.697;FATHMM_pred=T;PROVEAN_score=-2.69;PROVEAN_converted_rankscore=0.574;PROVEAN_pred=D;VEST3_score=0.124;VEST3_rankscore=0.234;MetaSVM_score=-0.445;MetaSVM_rankscore=0.706;MetaSVM_pred=T;MetaLR_score=0.280;MetaLR_rankscore=0.652;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.321;REVEL_rankscore=0.647;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.738;CADD_raw_rankscore=0.270;CADD_phred=14.62;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.693;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.018;Eigen-PC-raw=-0.017;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=4.162;phyloP100way_vertebrate_rankscore=0.577;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.935;phastCons20way_mammalian_rankscore=0.408;SiPhy_29way_logOdds=10.479;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0122;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0017852;Kaviar_AC=276;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.807663;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371414 rs11570052 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=16221;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.G565A:p.V189I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570052;CLNALLELEID=45276;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.399;SIFT_converted_rankscore=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.199;Polyphen2_HDIV_rankscore=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.366;Polyphen2_HVAR_rankscore=0.416;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_score_rankscore=0.294;MutationAssessor_pred=L;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.142;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.059;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_rankscore=0.643;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.648;M-CAP_pred=D;REVEL_score=0.157;REVEL_rankscore=0.414;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.583;CADD_raw_rankscore=0.372;CADD_phred=20.0;DANN_score=0.995;DANN_rankscore=0.686;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.500;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.022;Eigen-PC-raw=0.112;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.8;GERP++_RS_rankscore=0.610;phyloP100way_vertebrate=3.210;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.654;phastCons20way_mammalian_rankscore=0.299;SiPhy_29way_logOdds=11.703;SiPhy_29way_logOdds_rankscore=0.507;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0007;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0042;AF=0.0014;AF_popmax=0.0025;AF_male=0.0012;AF_female=0.0016;AF_raw=0.0014;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0024191;Kaviar_AC=374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.756327;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371442 rs11570051 G A 100 PASS AC=7;AF=0.0249601;AN=214;NS=2504;DP=14880;EAS_AF=0.005;AMR_AF=0.0764;AFR_AF=0.0015;EUR_AF=0.0408;SAS_AF=0.0245;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.C537T:p.A179A;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570051;CLNALLELEID=51938;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.0102;ExAC_nontcga_AMR=0.0925;ExAC_nontcga_EAS=0.0029;ExAC_nontcga_FIN=0.0657;ExAC_nontcga_NFE=0.0495;ExAC_nontcga_OTH=0.0486;ExAC_nontcga_SAS=0.0284;AF=0.0353;AF_popmax=0.0731;AF_male=0.0363;AF_female=0.0339;AF_raw=0.0352;AF_afr=0.0089;AF_sas=.;AF_amr=0.0731;AF_eas=0.0013;AF_nfe=0.0466;AF_fin=0.0493;AF_asj=0.0655;AF_oth=0.0524;non_topmed_AF_popmax=0.0728;non_neuro_AF_popmax=0.0668;non_cancer_AF_popmax=.;controls_AF_popmax=0.0610;Kaviar_AF=0.0392039;Kaviar_AC=6061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788302;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 47371484 rs11570050 AG A 100 PASS AC=164;AF=0.610823;AN=214;NS=2504;DP=15205;EAS_AF=0.6607;AMR_AF=0.6643;AFR_AF=0.3555;EUR_AF=0.7058;SAS_AF=0.7689;AA=GGG|GGGG|GGG|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570050;CLNALLELEID=51933;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6856;ExAC_nontcga_AFR=0.4282;ExAC_nontcga_AMR=0.6001;ExAC_nontcga_EAS=0.6354;ExAC_nontcga_FIN=0.6219;ExAC_nontcga_NFE=0.7338;ExAC_nontcga_OTH=0.7225;ExAC_nontcga_SAS=0.7156;AF=0.6108;AF_popmax=0.7227;AF_male=0.6067;AF_female=0.6160;AF_raw=0.6108;AF_afr=0.3905;AF_sas=.;AF_amr=0.6285;AF_eas=0.6621;AF_nfe=0.7227;AF_fin=0.6205;AF_asj=0.7483;AF_oth=0.6317;non_topmed_AF_popmax=0.7239;non_neuro_AF_popmax=0.7239;non_cancer_AF_popmax=.;controls_AF_popmax=0.7230;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588193;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570050;CLNALLELEID=51933;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6856;ExAC_nontcga_AFR=0.4282;ExAC_nontcga_AMR=0.6001;ExAC_nontcga_EAS=0.6354;ExAC_nontcga_FIN=0.6219;ExAC_nontcga_NFE=0.7338;ExAC_nontcga_OTH=0.7225;ExAC_nontcga_SAS=0.7156;AF=0.6108;AF_popmax=0.7227;AF_male=0.6067;AF_female=0.6160;AF_raw=0.6108;AF_afr=0.3905;AF_sas=.;AF_amr=0.6285;AF_eas=0.6621;AF_nfe=0.7227;AF_fin=0.6205;AF_asj=0.7483;AF_oth=0.6317;non_topmed_AF_popmax=0.7239;non_neuro_AF_popmax=0.7239;non_cancer_AF_popmax=.;controls_AF_popmax=0.7230;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588193;ALLELE_END GT 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 +11 47371578 rs3218719 G A 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=14881;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.C492T:p.G164G;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3218719;CLNALLELEID=51930;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0307;ExAC_nontcga_ALL=0.0277;ExAC_nontcga_AFR=0.0075;ExAC_nontcga_AMR=0.05;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0545;ExAC_nontcga_NFE=0.0539;ExAC_nontcga_OTH=0.0069;ExAC_nontcga_SAS=0.0070;AF=0.0209;AF_popmax=0.0301;AF_male=0.0199;AF_female=0.0221;AF_raw=0.0209;AF_afr=0.0054;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0301;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0259;non_topmed_AF_popmax=0.0294;non_neuro_AF_popmax=0.0302;non_cancer_AF_popmax=.;controls_AF_popmax=0.0220;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855628;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371598 rs3729986 C T 100 PASS AC=21;AF=0.0329473;AN=214;NS=2504;DP=16449;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.003;EUR_AF=0.1064;SAS_AF=0.0256;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.G472A:p.V158M;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729986;CLNALLELEID=51928;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.816;Polyphen2_HDIV_rankscore=0.436;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_rankscore=0.443;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.853;MutationTaster_converted_rankscore=0.284;MutationTaster_pred=N;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=-0.56;FATHMM_converted_rankscore=0.712;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.065;MetaSVM_score=-1.023;MetaSVM_rankscore=0.227;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.040;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.228;REVEL_rankscore=0.532;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.662;CADD_raw_rankscore=0.625;CADD_phred=24.5;DANN_score=0.996;DANN_rankscore=0.745;fathmm-MKL_coding_score=0.789;fathmm-MKL_coding_rankscore=0.387;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.245;Eigen-PC-raw=-0.308;GenoCanyon_score=0.833;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.742;phyloP100way_vertebrate_rankscore=0.257;phyloP20way_mammalian=-0.437;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.954;phastCons20way_mammalian_rankscore=0.431;SiPhy_29way_logOdds=13.427;SiPhy_29way_logOdds_rankscore=0.603;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0892;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0901;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1634;ExAC_nontcga_NFE=0.1541;ExAC_nontcga_OTH=0.075;ExAC_nontcga_SAS=0.0369;AF=0.0709;AF_popmax=0.1015;AF_male=0.0683;AF_female=0.0741;AF_raw=0.0711;AF_afr=0.0188;AF_sas=.;AF_amr=0.0557;AF_eas=0;AF_nfe=0.1015;AF_fin=0.0964;AF_asj=0.0828;AF_oth=0.0827;non_topmed_AF_popmax=0.1036;non_neuro_AF_popmax=0.1020;non_cancer_AF_popmax=.;controls_AF_popmax=0.1005;Kaviar_AF=0.0469787;Kaviar_AC=7263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.787283;ALLELE_END GT 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 +11 47371664 rs185449721 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17219;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYBPC3;GeneDetail.refGene=NM_000256:exon4:c.407-1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185449721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.139;CADD_raw_rankscore=0.437;CADD_phred=22.6;DANN_score=0.980;DANN_rankscore=0.368;fathmm-MKL_coding_score=0.071;fathmm-MKL_coding_rankscore=0.129;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.378;Eigen-PC-raw=0.022;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.370;integrated_fitCons_score=0.057;integrated_fitCons_score_rankscore=0.007;integrated_confidence_value=0;GERP++_RS=2.18;GERP++_RS_rankscore=0.267;phyloP100way_vertebrate=0.397;phyloP100way_vertebrate_rankscore=0.205;phyloP20way_mammalian=0.698;phyloP20way_mammalian_rankscore=0.298;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.864;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=10.053;SiPhy_29way_logOdds_rankscore=0.412;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.948;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.057e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.189846;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47372741 rs138484124 C A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18689;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138484124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313923;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47372749 rs3729985 C G 100 PASS AC=1;AF=0.0607029;AN=214;NS=2504;DP=19339;EAS_AF=0.0516;AMR_AF=0.0375;AFR_AF=0.0053;EUR_AF=0.0268;SAS_AF=0.1963;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0607029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0217;ExAC_nontcga_ALL=0.0584;ExAC_nontcga_AFR=0.0153;ExAC_nontcga_AMR=0.0510;ExAC_nontcga_EAS=0.0633;ExAC_nontcga_FIN=0.0478;ExAC_nontcga_NFE=0.0365;ExAC_nontcga_OTH=0.0455;ExAC_nontcga_SAS=0.2291;AF=0.0287;AF_popmax=0.0648;AF_male=0.0284;AF_female=0.0291;AF_raw=0.0287;AF_afr=0.0214;AF_sas=.;AF_amr=0.0531;AF_eas=0.0648;AF_nfe=0.0261;AF_fin=0.0383;AF_asj=0.0103;AF_oth=0.0276;non_topmed_AF_popmax=0.0651;non_neuro_AF_popmax=0.0648;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0236025;Kaviar_AC=3649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313923;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168330 rs199972628 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19608;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T279C:p.H93H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199972628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.874e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.598e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=.;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.824776;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168361 rs17215437 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20945;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.G248A:p.R83H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215437;CLNALLELEID=20580;CLNDN=Ventricular_fibrillation|Syncope|Periodic_paralysis|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0003768,MedGen:C1279412|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.044;SIFT_converted_rankscore=0.410;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=N;MutationTaster_score=0.518;MutationTaster_converted_rankscore=0.319;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-4.39;PROVEAN_converted_rankscore=0.772;PROVEAN_pred=D;VEST3_score=0.677;VEST3_rankscore=0.685;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.548;MetaLR_rankscore=0.834;MetaLR_pred=D;M-CAP_score=0.035;M-CAP_rankscore=0.560;M-CAP_pred=D;REVEL_score=0.584;REVEL_rankscore=0.835;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.265;CADD_raw_rankscore=0.333;CADD_phred=17.94;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.692;fathmm-MKL_coding_rankscore=0.338;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.488;Eigen-PC-raw=-0.400;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.37;GERP++_RS_rankscore=0.375;phyloP100way_vertebrate=1.997;phyloP100way_vertebrate_rankscore=0.402;phyloP20way_mammalian=-0.436;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.971;phastCons20way_mammalian_rankscore=0.463;SiPhy_29way_logOdds=7.208;SiPhy_29way_logOdds_rankscore=0.249;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0034;AF_popmax=0.0050;AF_male=0.0033;AF_female=0.0035;AF_raw=0.0034;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0026;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0045;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0034;Kaviar_AF=0.0030595;Kaviar_AC=473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.553020;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168411 rs2270676 A G 100 PASS AC=25;AF=0.141174;AN=214;NS=2504;DP=19189;EAS_AF=0.1627;AMR_AF=0.0879;AFR_AF=0.1241;EUR_AF=0.1103;SAS_AF=0.2117;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T198C:p.F66F;1000g2015aug_all=0.141174;GWAS=rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915;ORegAnno_REGULATORY_P=rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915;avsnp150=rs2270676;CLNALLELEID=254321;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1084;ExAC_nontcga_ALL=0.1367;ExAC_nontcga_AFR=0.1322;ExAC_nontcga_AMR=0.0869;ExAC_nontcga_EAS=0.1257;ExAC_nontcga_FIN=0.2147;ExAC_nontcga_NFE=0.1168;ExAC_nontcga_OTH=0.1571;ExAC_nontcga_SAS=0.2119;AF=0.1385;AF_popmax=0.1412;AF_male=0.1366;AF_female=0.1409;AF_raw=0.1387;AF_afr=0.1188;AF_sas=.;AF_amr=0.0861;AF_eas=0.1412;AF_nfe=0.1309;AF_fin=0.2313;AF_asj=0.0897;AF_oth=0.1581;non_topmed_AF_popmax=0.1401;non_neuro_AF_popmax=0.1412;non_cancer_AF_popmax=.;controls_AF_popmax=0.1653;Kaviar_AF=0.128297;Kaviar_AC=19835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.003009;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 +11 111781003 rs185795480 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20799;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185795480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.517e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.86e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1496730|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.450023;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 111781047 rs11603779 A C 100 PASS AC=75;AF=0.239816;AN=214;NS=2504;DP=22006;EAS_AF=0.1905;AMR_AF=0.3069;AFR_AF=0.1952;EUR_AF=0.3231;SAS_AF=0.2178;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11603779;CLNALLELEID=53401;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.433;SIFT_converted_rankscore=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.68;FATHMM_converted_rankscore=0.904;FATHMM_pred=D;PROVEAN_score=2.13;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.083;VEST3_rankscore=0.077;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.150;REVEL_rankscore=0.401;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.652;CADD_raw_rankscore=0.047;CADD_phred=0.094;DANN_score=0.508;DANN_rankscore=0.044;fathmm-MKL_coding_score=0.039;fathmm-MKL_coding_rankscore=0.092;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.988;Eigen-PC-raw=-1.238;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=-6.74;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.714;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-0.136;phyloP20way_mammalian_rankscore=0.110;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.074;phastCons20way_mammalian_rankscore=0.178;SiPhy_29way_logOdds=2.709;SiPhy_29way_logOdds_rankscore=0.048;Interpro_domain=HSP20-like_chaperone;GTEx_V6p_gene=ENSG00000109846.3|ENSG00000170145.4|ENSG00000086848.10|ENSG00000255561.2|ENSG00000137720.3|ENSG00000137720.3|ENSG00000137720.3|ENSG00000109846.3|ENSG00000109846.3|ENSG00000137713.11;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3000;ExAC_nontcga_ALL=0.2685;ExAC_nontcga_AFR=0.2113;ExAC_nontcga_AMR=0.2920;ExAC_nontcga_EAS=0.1819;ExAC_nontcga_FIN=0.2519;ExAC_nontcga_NFE=0.2925;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.2507;AF=0.2571;AF_popmax=0.3038;AF_male=0.2574;AF_female=0.2568;AF_raw=0.2573;AF_afr=0.2254;AF_sas=.;AF_amr=0.3038;AF_eas=0.1754;AF_nfe=0.2796;AF_fin=0.2496;AF_asj=0.3483;AF_oth=0.2726;non_topmed_AF_popmax=0.3;non_neuro_AF_popmax=0.3152;non_cancer_AF_popmax=.;controls_AF_popmax=0.3211;Kaviar_AF=0.26968;Kaviar_AC=41693;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.285985::-0.224279;Heart_Left_Ventricle=Heart_Left_Ventricle::0.299632::-0.23434;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1496730|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.411629;ALLELE_END GT 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|1 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|1 1|0 0|1 1|1 0|1 1|1 +11 111782284 rs2228387 C T 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=18032;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CRYAB:NM_001289808:exon1:c.G165A:p.L55L,CRYAB:NM_001289807:exon2:c.G165A:p.L55L,CRYAB:NM_001885:exon2:c.G165A:p.L55L;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228387;CLNALLELEID=53400;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0209;ExAC_nontcga_NFE=0.0238;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0316;AF=0.0136;AF_popmax=0.0212;AF_male=0.0126;AF_female=0.0148;AF_raw=0.0136;AF_afr=0.0038;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0212;AF_fin=0.0135;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.0211;non_neuro_AF_popmax=0.0209;non_cancer_AF_popmax=.;controls_AF_popmax=0.0227;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.834016;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +11 118011860 rs12804550 G A 100 PASS AC=43;AF=0.141973;AN=214;NS=2504;DP=15085;EAS_AF=0.1062;AMR_AF=0.1369;AFR_AF=0.1407;EUR_AF=0.1928;SAS_AF=0.1319;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12804550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1600;AF_popmax=0.1833;AF_male=0.1597;AF_female=0.1602;AF_raw=0.1607;AF_afr=0.1354;AF_sas=.;AF_amr=0.1552;AF_eas=0.0999;AF_nfe=0.1833;AF_fin=0.1445;AF_asj=0.2172;AF_oth=0.1479;non_topmed_AF_popmax=0.1753;non_neuro_AF_popmax=0.1842;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0361121;Kaviar_AC=5583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485369|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +11 118015832 rs45539032 G A 100 PASS AC=8;AF=0.0349441;AN=214;NS=2504;DP=20023;EAS_AF=0.0248;AMR_AF=0.0288;AFR_AF=0.0431;EUR_AF=0.0378;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN4B:NM_174934:exon2:c.C174T:p.C58C;1000g2015aug_all=0.0349441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45539032;CLNALLELEID=142740;CLNDN=Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0374;ExAC_nontcga_ALL=0.0345;ExAC_nontcga_AFR=0.0406;ExAC_nontcga_AMR=0.0268;ExAC_nontcga_EAS=0.0109;ExAC_nontcga_FIN=0.0133;ExAC_nontcga_NFE=0.0400;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0373;AF=0.0336;AF_popmax=0.0382;AF_male=0.0334;AF_female=0.0337;AF_raw=0.0336;AF_afr=0.0382;AF_sas=.;AF_amr=0.0248;AF_eas=0.0141;AF_nfe=0.0373;AF_fin=0.0144;AF_asj=0.0483;AF_oth=0.0349;non_topmed_AF_popmax=0.0379;non_neuro_AF_popmax=0.0373;non_cancer_AF_popmax=.;controls_AF_popmax=0.0374;Kaviar_AF=0.0353876;Kaviar_AC=5471;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485365|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.865055;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +11 118015959 rs143136332 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17802;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SCN4B;GeneDetail.refGene=NM_001142349:c.-1279G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143136332;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.755e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.28e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000045588|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485365|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.139305;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118023424 rs144902867 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12790;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SCN4B;GeneDetail.refGene=NM_174934:c.-36C>G\x3bNM_001142348:c.-36C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144902867;CLNALLELEID=372202;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.056e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.876e-05;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0;AF=9.56e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000443850|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1943539|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.629526;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118037564 rs8192614 G A 100 PASS AC=23;AF=0.0780751;AN=214;NS=2504;DP=15578;EAS_AF=0.0139;AMR_AF=0.0605;AFR_AF=0.112;EUR_AF=0.1054;SAS_AF=0.0828;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SCN2B;GeneDetail.refGene=NM_004588:c.*38C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0928;ExAC_nontcga_ALL=0.0905;ExAC_nontcga_AFR=0.1046;ExAC_nontcga_AMR=0.0391;ExAC_nontcga_EAS=0.0191;ExAC_nontcga_FIN=0.1300;ExAC_nontcga_NFE=0.1062;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.0830;AF=0.1007;AF_popmax=0.1038;AF_male=0.0994;AF_female=0.1022;AF_raw=0.1009;AF_afr=0.1033;AF_sas=.;AF_amr=0.0567;AF_eas=0.0219;AF_nfe=0.1038;AF_fin=0.1260;AF_asj=0.1138;AF_oth=0.0970;non_topmed_AF_popmax=0.1032;non_neuro_AF_popmax=0.1045;non_cancer_AF_popmax=.;controls_AF_popmax=0.1029;Kaviar_AF=0.0890674;Kaviar_AC=13770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.015659;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 +11 118037569 rs202025244 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15495;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SCN2B;GeneDetail.refGene=NM_004588:c.*33G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202025244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.769e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.015659;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118037813 rs8192613 G T 100 PASS AC=110;AF=0.514377;AN=214;NS=2504;DP=16173;EAS_AF=0.7758;AMR_AF=0.5202;AFR_AF=0.3381;EUR_AF=0.4811;SAS_AF=0.5133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.514377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192613;CLNALLELEID=254012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.034;esp6500siv2_ea=0.4707;ExAC_nontcga_ALL=0.5050;ExAC_nontcga_AFR=0.3633;ExAC_nontcga_AMR=0.4803;ExAC_nontcga_EAS=0.7728;ExAC_nontcga_FIN=0.5623;ExAC_nontcga_NFE=0.4746;ExAC_nontcga_OTH=0.5232;ExAC_nontcga_SAS=0.5485;AF=0.4615;AF_popmax=0.7713;AF_male=0.4668;AF_female=0.4548;AF_raw=0.4619;AF_afr=0.3490;AF_sas=.;AF_amr=0.4669;AF_eas=0.7713;AF_nfe=0.4682;AF_fin=0.5584;AF_asj=0.5655;AF_oth=0.4815;non_topmed_AF_popmax=0.7728;non_neuro_AF_popmax=0.7713;non_cancer_AF_popmax=.;controls_AF_popmax=0.7665;Kaviar_AF=0.489121;Kaviar_AC=75619;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.479087::0.162783;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 0|0 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|1 1|1 0|1 0|0 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|1 1|1 0|0 +11 118038741 rs647975 C T 100 PASS AC=3;AF=0.251797;AN=214;NS=2504;DP=19239;EAS_AF=0.0933;AMR_AF=0.0836;AFR_AF=0.73;EUR_AF=0.0159;SAS_AF=0.1309;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs647975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1952;AF_popmax=0.6337;AF_male=0.2014;AF_female=0.1873;AF_raw=0.1955;AF_afr=0.6337;AF_sas=.;AF_amr=0.0390;AF_eas=0.0782;AF_nfe=0.0211;AF_fin=0.0155;AF_asj=0.0034;AF_oth=0.0726;non_topmed_AF_popmax=0.6334;non_neuro_AF_popmax=0.6218;non_cancer_AF_popmax=.;controls_AF_popmax=0.6187;Kaviar_AF=0.0152521;Kaviar_AC=2358;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +11 118039016 rs200842493 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21060;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200842493;CLNALLELEID=461723;CLNDN=Atrial_fibrillation,_familial,_14;CLNDISDB=MedGen:C3809312,OMIM:615378;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.01;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.133619;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118039273 rs645675 T C 100 PASS AC=8;AF=0.249601;AN=214;NS=2504;DP=19370;EAS_AF=0.2083;AMR_AF=0.0951;AFR_AF=0.6672;EUR_AF=0.0179;SAS_AF=0.0757;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs645675;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0163;ExAC_nontcga_ALL=0.0884;ExAC_nontcga_AFR=0.5700;ExAC_nontcga_AMR=0.0630;ExAC_nontcga_EAS=0.1904;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0655;AF=0.1762;AF_popmax=0.5566;AF_male=0.1830;AF_female=0.1677;AF_raw=0.1764;AF_afr=0.5566;AF_sas=.;AF_amr=0.0684;AF_eas=0.2018;AF_nfe=0.0106;AF_fin=0.0155;AF_asj=0.0517;AF_oth=0.0767;non_topmed_AF_popmax=0.5562;non_neuro_AF_popmax=0.5444;non_cancer_AF_popmax=.;controls_AF_popmax=0.5393;Kaviar_AF=0.0828903;Kaviar_AC=12815;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +11 123504959 rs1148110 C G 100 PASS AC=126;AF=0.750599;AN=214;NS=2504;DP=20485;EAS_AF=0.7222;AMR_AF=0.6225;AFR_AF=0.972;EUR_AF=0.5467;SAS_AF=0.7812;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.750599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1148110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5523;ExAC_nontcga_ALL=0.6317;ExAC_nontcga_AFR=0.9114;ExAC_nontcga_AMR=0.5888;ExAC_nontcga_EAS=0.7547;ExAC_nontcga_FIN=0.4958;ExAC_nontcga_NFE=0.5547;ExAC_nontcga_OTH=0.6039;ExAC_nontcga_SAS=0.7540;AF=0.6537;AF_popmax=0.9099;AF_male=0.6614;AF_female=0.6440;AF_raw=0.6534;AF_afr=0.9099;AF_sas=.;AF_amr=0.6167;AF_eas=0.7448;AF_nfe=0.5417;AF_fin=0.4965;AF_asj=0.5979;AF_oth=0.6029;non_topmed_AF_popmax=0.9104;non_neuro_AF_popmax=0.9066;non_cancer_AF_popmax=.;controls_AF_popmax=0.9089;Kaviar_AF=0.605458;Kaviar_AC=93605;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 1|1 1|0 1|0 1|0 1|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 1|0 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 0|0 1|1 +11 123508842 rs7112258 A G 100 PASS AC=3;AF=0.0958466;AN=214;NS=2504;DP=20325;EAS_AF=0.0228;AMR_AF=0.0965;AFR_AF=0.236;EUR_AF=0.0159;SAS_AF=0.0634;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7112258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0113;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0715;AF_popmax=0.2081;AF_male=0.0711;AF_female=0.0721;AF_raw=0.0715;AF_afr=0.2081;AF_sas=.;AF_amr=0.0861;AF_eas=0.0251;AF_nfe=0.0143;AF_fin=0.0175;AF_asj=0.0034;AF_oth=0.0359;non_topmed_AF_popmax=0.2076;non_neuro_AF_popmax=0.2066;non_cancer_AF_popmax=.;controls_AF_popmax=0.2101;Kaviar_AF=0.0072832;Kaviar_AC=1126;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123513161 rs1275085 G A 100 PASS AC=25;AF=0.0820687;AN=214;NS=2504;DP=18757;EAS_AF=0.004;AMR_AF=0.0634;AFR_AF=0.0953;EUR_AF=0.0984;SAS_AF=0.1411;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C438T:p.T146T,SCN3B:NM_001040151:exon4:c.C438T:p.T146T;1000g2015aug_all=0.0820687;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1275085;CLNALLELEID=254022;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0896;ExAC_nontcga_ALL=0.0900;ExAC_nontcga_AFR=0.0940;ExAC_nontcga_AMR=0.0386;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0927;ExAC_nontcga_NFE=0.0911;ExAC_nontcga_OTH=0.1026;ExAC_nontcga_SAS=0.1599;AF=0.0851;AF_popmax=0.0958;AF_male=0.0843;AF_female=0.0860;AF_raw=0.0851;AF_afr=0.0958;AF_sas=.;AF_amr=0.0343;AF_eas=0.0013;AF_nfe=0.0878;AF_fin=0.0892;AF_asj=0.1181;AF_oth=0.0974;non_topmed_AF_popmax=0.0960;non_neuro_AF_popmax=0.0973;non_cancer_AF_popmax=.;controls_AF_popmax=0.0981;Kaviar_AF=0.0865254;Kaviar_AC=13377;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804817;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 123513341 rs201799741 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18351;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C258T:p.S86S,SCN3B:NM_001040151:exon4:c.C258T:p.S86S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201799741;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=3.804e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.425e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.379e-05;AF_popmax=0.0001;AF_male=5.733e-05;AF_female=7.19e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123524389 rs8192616 A G 100 PASS AC=1;AF=0.0443291;AN=214;NS=2504;DP=18224;EAS_AF=0.0486;AMR_AF=0.1239;AFR_AF=0.0166;EUR_AF=0.005;SAS_AF=0.0613;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0139;AF_popmax=0.1667;AF_male=0.0135;AF_female=0.0145;AF_raw=0.0139;AF_afr=0.0156;AF_sas=.;AF_amr=0.1667;AF_eas=0.0385;AF_nfe=0.0022;AF_fin=0.0107;AF_asj=0;AF_oth=0.0267;non_topmed_AF_popmax=0.1720;non_neuro_AF_popmax=0.1467;non_cancer_AF_popmax=.;controls_AF_popmax=0.1475;Kaviar_AF=0.0043596;Kaviar_AC=674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000445310|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510012|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.903517;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123524411 rs3851102 G A 100 PASS AC=32;AF=0.142173;AN=214;NS=2504;DP=18197;EAS_AF=0.127;AMR_AF=0.2406;AFR_AF=0.1399;EUR_AF=0.161;SAS_AF=0.0716;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.142173;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3851102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1395;ExAC_nontcga_ALL=0.1470;ExAC_nontcga_AFR=0.1377;ExAC_nontcga_AMR=0.2457;ExAC_nontcga_EAS=0.1714;ExAC_nontcga_FIN=0.1822;ExAC_nontcga_NFE=0.1413;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0786;AF=0.1462;AF_popmax=0.2335;AF_male=0.1451;AF_female=0.1477;AF_raw=0.1466;AF_afr=0.1363;AF_sas=.;AF_amr=0.2335;AF_eas=0.1639;AF_nfe=0.1371;AF_fin=0.1837;AF_asj=0.1034;AF_oth=0.1538;non_topmed_AF_popmax=0.2321;non_neuro_AF_popmax=0.2437;non_cancer_AF_popmax=.;controls_AF_popmax=0.2358;Kaviar_AF=0.143814;Kaviar_AC=22234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000445310|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510012|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.921114;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 +11 128781287 rs185412918 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19305;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C119T:p.T40M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185412918;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.577;Polyphen2_HVAR_pred=P;LRT_score=0.080;LRT_converted_rankscore=0.210;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.235;VEST3_rankscore=0.665;MetaSVM_score=0.521;MetaSVM_rankscore=0.908;MetaSVM_pred=D;MetaLR_score=0.761;MetaLR_rankscore=0.919;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.702;M-CAP_pred=D;REVEL_score=0.535;REVEL_rankscore=0.807;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.122;CADD_raw_rankscore=0.691;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.959;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.941;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.745;Eigen-PC-raw=0.759;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.79;GERP++_RS_rankscore=0.917;phyloP100way_vertebrate=7.568;phyloP100way_vertebrate_rankscore=0.814;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.925;phastCons20way_mammalian_rankscore=0.399;SiPhy_29way_logOdds=20.044;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920523;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781339 rs6590357 T C 100 PASS AC=188;AF=0.869808;AN=214;NS=2504;DP=20998;EAS_AF=0.877;AMR_AF=0.8026;AFR_AF=0.8918;EUR_AF=0.8499;SAS_AF=0.9008;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;1000g2015aug_all=0.869808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6590357;CLNALLELEID=141693;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8250;ExAC_nontcga_ALL=0.8439;ExAC_nontcga_AFR=0.8975;ExAC_nontcga_AMR=0.8055;ExAC_nontcga_EAS=0.8779;ExAC_nontcga_FIN=0.7900;ExAC_nontcga_NFE=0.8289;ExAC_nontcga_OTH=0.8353;ExAC_nontcga_SAS=0.8958;AF=0.8472;AF_popmax=0.9062;AF_male=0.8453;AF_female=0.8494;AF_raw=0.8468;AF_afr=0.9062;AF_sas=.;AF_amr=0.8172;AF_eas=0.8923;AF_nfe=0.8248;AF_fin=0.7949;AF_asj=0.8103;AF_oth=0.8263;non_topmed_AF_popmax=0.9066;non_neuro_AF_popmax=0.9073;non_cancer_AF_popmax=.;controls_AF_popmax=0.9075;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914987;ALLELE_END GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128781441 rs146853795 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C273T:p.L91L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146853795;CLNALLELEID=326536;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0003;AF_popmax=0.0004;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911585;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781606 rs140697732 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21813;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C438T:p.T146T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140697732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.726e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.889317;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781978 rs7118824 T G 100 PASS AC=188;AF=0.866214;AN=214;NS=2504;DP=21865;EAS_AF=0.876;AMR_AF=0.7997;AFR_AF=0.8805;EUR_AF=0.8479;SAS_AF=0.9029;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;1000g2015aug_all=0.866214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7118824;CLNALLELEID=141694;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8216;ExAC_nontcga_ALL=0.8417;ExAC_nontcga_AFR=0.8882;ExAC_nontcga_AMR=0.8043;ExAC_nontcga_EAS=0.8780;ExAC_nontcga_FIN=0.7893;ExAC_nontcga_NFE=0.8270;ExAC_nontcga_OTH=0.8314;ExAC_nontcga_SAS=0.8944;AF=0.8419;AF_popmax=0.8944;AF_male=0.8401;AF_female=0.8441;AF_raw=0.8413;AF_afr=0.8944;AF_sas=.;AF_amr=0.8160;AF_eas=0.8920;AF_nfe=0.8211;AF_fin=0.7948;AF_asj=0.8090;AF_oth=0.8231;non_topmed_AF_popmax=0.8952;non_neuro_AF_popmax=0.8944;non_cancer_AF_popmax=.;controls_AF_popmax=0.8980;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.275185;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918617;ALLELE_END GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128782002 rs7118833 T C 100 PASS AC=188;AF=0.867013;AN=214;NS=2504;DP=22091;EAS_AF=0.876;AMR_AF=0.8026;AFR_AF=0.882;EUR_AF=0.8479;SAS_AF=0.9029;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;1000g2015aug_all=0.867013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7118833;CLNALLELEID=141695;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8216;ExAC_nontcga_ALL=0.8419;ExAC_nontcga_AFR=0.8914;ExAC_nontcga_AMR=0.8044;ExAC_nontcga_EAS=0.8781;ExAC_nontcga_FIN=0.7895;ExAC_nontcga_NFE=0.8269;ExAC_nontcga_OTH=0.8314;ExAC_nontcga_SAS=0.8946;AF=0.8430;AF_popmax=0.8984;AF_male=0.8410;AF_female=0.8454;AF_raw=0.8421;AF_afr=0.8984;AF_sas=.;AF_amr=0.8191;AF_eas=0.8920;AF_nfe=0.8210;AF_fin=0.7948;AF_asj=0.8090;AF_oth=0.8226;non_topmed_AF_popmax=0.8989;non_neuro_AF_popmax=0.8991;non_cancer_AF_popmax=.;controls_AF_popmax=0.9;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.176471::-0.277257;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923949;ALLELE_END GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128782012 rs7102584 C G 100 PASS AC=213;AF=0.995008;AN=214;NS=2504;DP=22366;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9977;EUR_AF=0.9841;SAS_AF=0.998;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;1000g2015aug_all=0.995008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7102584;CLNALLELEID=141696;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.229;MutationTaster_pred=P;MutationAssessor_score=-1.455;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_converted_rankscore=0.012;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.005;MetaSVM_score=-0.907;MetaSVM_rankscore=0.473;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.323;REVEL_rankscore=0.649;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.157;CADD_raw_rankscore=0.109;CADD_phred=4.219;DANN_score=0.396;DANN_rankscore=0.027;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.705;Eigen-PC-raw=-0.377;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=5.895;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=0.136;phyloP20way_mammalian_rankscore=0.221;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=16.452;SiPhy_29way_logOdds_rankscore=0.838;Interpro_domain=Immunoglobulin_E-set|Potassium_channel,_inwardly_rectifying,_Kir,_cytoplasmic;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9820;ExAC_nontcga_ALL=0.9868;ExAC_nontcga_AFR=0.9975;ExAC_nontcga_AMR=0.9977;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9761;ExAC_nontcga_NFE=0.9786;ExAC_nontcga_OTH=0.9899;ExAC_nontcga_SAS=0.9986;AF=0.9848;AF_popmax=1;AF_male=0.9861;AF_female=0.9832;AF_raw=0.9844;AF_afr=0.9986;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9777;AF_fin=0.9741;AF_asj=1;AF_oth=0.9769;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.837086;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 128782112 rs45516097 C T 100 PASS AC=3;AF=0.076278;AN=214;NS=2504;DP=20539;EAS_AF=0.0863;AMR_AF=0.0432;AFR_AF=0.1891;EUR_AF=0.0089;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45516097;CLNALLELEID=141697;CLNDN=Long_QT_syndrome|Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.1793;ExAC_nontcga_AMR=0.0197;ExAC_nontcga_EAS=0.0827;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0060;AF=0.0610;AF_popmax=0.1780;AF_male=0.0631;AF_female=0.0583;AF_raw=0.0610;AF_afr=0.1780;AF_sas=.;AF_amr=0.0271;AF_eas=0.0982;AF_nfe=0.0079;AF_fin=0.0072;AF_asj=0.0276;AF_oth=0.0303;non_topmed_AF_popmax=0.1801;non_neuro_AF_popmax=0.1678;non_cancer_AF_popmax=.;controls_AF_popmax=0.1699;Kaviar_AF=0.0296827;Kaviar_AC=4589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000963232|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.830285;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128786294 rs4937391 G A 100 PASS AC=179;AF=0.735823;AN=214;NS=2504;DP=22146;EAS_AF=0.6538;AMR_AF=0.6945;AFR_AF=0.7821;EUR_AF=0.7535;SAS_AF=0.7689;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.735823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4937391;CLNALLELEID=141698;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.7279;ExAC_nontcga_ALL=0.7339;ExAC_nontcga_AFR=0.7902;ExAC_nontcga_AMR=0.6977;ExAC_nontcga_EAS=0.6654;ExAC_nontcga_FIN=0.6839;ExAC_nontcga_NFE=0.7328;ExAC_nontcga_OTH=0.7406;ExAC_nontcga_SAS=0.7835;AF=0.7391;AF_popmax=0.7980;AF_male=0.7369;AF_female=0.7418;AF_raw=0.7383;AF_afr=0.7980;AF_sas=.;AF_amr=0.7069;AF_eas=0.6731;AF_nfe=0.7279;AF_fin=0.6881;AF_asj=0.7138;AF_oth=0.7157;non_topmed_AF_popmax=0.7987;non_neuro_AF_popmax=0.8002;non_cancer_AF_popmax=.;controls_AF_popmax=0.7997;Kaviar_AF=0.724635;Kaviar_AC=112030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +12 2224511 rs34419050 C T 100 PASS AC=5;AF=0.0117812;AN=214;NS=2504;DP=13235;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.C171T:p.D57D,CACNA1C:NM_001129827:exon2:c.C171T:p.D57D,CACNA1C:NM_001129829:exon2:c.C171T:p.D57D,CACNA1C:NM_001129830:exon2:c.C171T:p.D57D,CACNA1C:NM_001129831:exon2:c.C171T:p.D57D,CACNA1C:NM_001129832:exon2:c.C171T:p.D57D,CACNA1C:NM_001129833:exon2:c.C171T:p.D57D,CACNA1C:NM_001129834:exon2:c.C171T:p.D57D,CACNA1C:NM_001129835:exon2:c.C171T:p.D57D,CACNA1C:NM_001129836:exon2:c.C171T:p.D57D,CACNA1C:NM_001129837:exon2:c.C171T:p.D57D,CACNA1C:NM_001129838:exon2:c.C171T:p.D57D,CACNA1C:NM_001129839:exon2:c.C171T:p.D57D,CACNA1C:NM_001129840:exon2:c.C171T:p.D57D,CACNA1C:NM_001129841:exon2:c.C171T:p.D57D,CACNA1C:NM_001129842:exon2:c.C171T:p.D57D,CACNA1C:NM_001129843:exon2:c.C171T:p.D57D,CACNA1C:NM_001129844:exon2:c.C171T:p.D57D,CACNA1C:NM_001129846:exon2:c.C171T:p.D57D,CACNA1C:NM_001167623:exon2:c.C171T:p.D57D,CACNA1C:NM_001167624:exon2:c.C171T:p.D57D,CACNA1C:NM_001167625:exon2:c.C171T:p.D57D,CACNA1C:NM_199460:exon2:c.C171T:p.D57D;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34419050;CLNALLELEID=44431;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0322;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.0142;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0156;ExAC_nontcga_NFE=0.0380;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0431;AF=0.0138;AF_popmax=0.0219;AF_male=0.0132;AF_female=0.0146;AF_raw=0.0138;AF_afr=0.0039;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0104;AF_asj=0.0174;AF_oth=0.0119;non_topmed_AF_popmax=0.0204;non_neuro_AF_popmax=0.0209;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0177165;Kaviar_AC=2739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.624601;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2224553 rs113869350 G A 100 PASS AC=1;AF=0.013778;AN=214;NS=2504;DP=14535;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0469;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.G213A:p.A71A,CACNA1C:NM_001129827:exon2:c.G213A:p.A71A,CACNA1C:NM_001129829:exon2:c.G213A:p.A71A,CACNA1C:NM_001129830:exon2:c.G213A:p.A71A,CACNA1C:NM_001129831:exon2:c.G213A:p.A71A,CACNA1C:NM_001129832:exon2:c.G213A:p.A71A,CACNA1C:NM_001129833:exon2:c.G213A:p.A71A,CACNA1C:NM_001129834:exon2:c.G213A:p.A71A,CACNA1C:NM_001129835:exon2:c.G213A:p.A71A,CACNA1C:NM_001129836:exon2:c.G213A:p.A71A,CACNA1C:NM_001129837:exon2:c.G213A:p.A71A,CACNA1C:NM_001129838:exon2:c.G213A:p.A71A,CACNA1C:NM_001129839:exon2:c.G213A:p.A71A,CACNA1C:NM_001129840:exon2:c.G213A:p.A71A,CACNA1C:NM_001129841:exon2:c.G213A:p.A71A,CACNA1C:NM_001129842:exon2:c.G213A:p.A71A,CACNA1C:NM_001129843:exon2:c.G213A:p.A71A,CACNA1C:NM_001129844:exon2:c.G213A:p.A71A,CACNA1C:NM_001129846:exon2:c.G213A:p.A71A,CACNA1C:NM_001167623:exon2:c.G213A:p.A71A,CACNA1C:NM_001167624:exon2:c.G213A:p.A71A,CACNA1C:NM_001167625:exon2:c.G213A:p.A71A,CACNA1C:NM_199460:exon2:c.G213A:p.A71A;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113869350;CLNALLELEID=241530;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0582;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0127;AF_popmax=0.0449;AF_male=0.0136;AF_female=0.0115;AF_raw=0.0127;AF_afr=0.0449;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0443;non_neuro_AF_popmax=0.0475;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.337287;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2229476 rs55792866 G A 100 PASS AC=6;AF=0.0253594;AN=214;NS=2504;DP=19172;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.0461;EUR_AF=0.0249;SAS_AF=0.0307;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55792866;CLNALLELEID=44432;CLNDN=Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0265;ExAC_nontcga_ALL=0.0253;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0124;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0265;ExAC_nontcga_OTH=0.0246;ExAC_nontcga_SAS=0.0363;AF=0.0265;AF_popmax=0.0491;AF_male=0.0268;AF_female=0.0261;AF_raw=0.0265;AF_afr=0.0491;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0104;AF_asj=0.0172;AF_oth=0.0138;non_topmed_AF_popmax=0.0483;non_neuro_AF_popmax=0.0517;non_cancer_AF_popmax=.;controls_AF_popmax=0.0495;Kaviar_AF=0.0250061;Kaviar_AC=3866;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.279141;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2558186 rs1544514 G A 100 PASS AC=54;AF=0.120407;AN=214;NS=2504;DP=17828;EAS_AF=0.0655;AMR_AF=0.147;AFR_AF=0.0756;EUR_AF=0.1928;SAS_AF=0.1442;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A;1000g2015aug_all=0.120407;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544514;CLNALLELEID=99319;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2146;ExAC_nontcga_ALL=0.2058;ExAC_nontcga_AFR=0.1073;ExAC_nontcga_AMR=0.2058;ExAC_nontcga_EAS=0.0842;ExAC_nontcga_FIN=0.1936;ExAC_nontcga_NFE=0.2520;ExAC_nontcga_OTH=0.2384;ExAC_nontcga_SAS=0.1691;AF=0.1685;AF_popmax=0.2137;AF_male=0.1660;AF_female=0.1718;AF_raw=0.1685;AF_afr=0.1002;AF_sas=.;AF_amr=0.1879;AF_eas=0.0546;AF_nfe=0.2137;AF_fin=0.1676;AF_asj=0.3241;AF_oth=0.1842;non_topmed_AF_popmax=0.2091;non_neuro_AF_popmax=0.2155;non_cancer_AF_popmax=.;controls_AF_popmax=0.2186;Kaviar_AF=0.171744;Kaviar_AC=26552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668478;ALLELE_END GT 0|0 1|0 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2558292 rs550267364 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550267364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2558298 rs1544515 G A 100 PASS AC=63;AF=0.260184;AN=214;NS=2504;DP=18820;EAS_AF=0.1746;AMR_AF=0.1873;AFR_AF=0.3298;EUR_AF=0.2396;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.260184;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544515;CLNALLELEID=99327;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2386;ExAC_nontcga_ALL=0.2935;ExAC_nontcga_AFR=0.3450;ExAC_nontcga_AMR=0.2402;ExAC_nontcga_EAS=0.1904;ExAC_nontcga_FIN=0.2543;ExAC_nontcga_NFE=0.2776;ExAC_nontcga_OTH=0.3021;ExAC_nontcga_SAS=0.3133;AF=0.2702;AF_popmax=0.3246;AF_male=0.2699;AF_female=0.2705;AF_raw=0.2715;AF_afr=0.3246;AF_sas=.;AF_amr=0.2241;AF_eas=0.1658;AF_nfe=0.2575;AF_fin=0.2461;AF_asj=0.3287;AF_oth=0.2625;non_topmed_AF_popmax=0.3256;non_neuro_AF_popmax=0.3289;non_cancer_AF_popmax=.;controls_AF_popmax=0.3218;Kaviar_AF=0.139623;Kaviar_AC=21586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END GT 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2558300 rs1544516 T C 100 PASS AC=63;AF=0.26258;AN=214;NS=2504;DP=18806;EAS_AF=0.1746;AMR_AF=0.1873;AFR_AF=0.3366;EUR_AF=0.2396;SAS_AF=0.3303;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.26258;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544516;CLNALLELEID=99328;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2332;ExAC_nontcga_ALL=0.2954;ExAC_nontcga_AFR=0.3496;ExAC_nontcga_AMR=0.2335;ExAC_nontcga_EAS=0.1941;ExAC_nontcga_FIN=0.2535;ExAC_nontcga_NFE=0.2776;ExAC_nontcga_OTH=0.3105;ExAC_nontcga_SAS=0.3163;AF=0.2713;AF_popmax=0.3288;AF_male=0.2713;AF_female=0.2713;AF_raw=0.2727;AF_afr=0.3288;AF_sas=.;AF_amr=0.2241;AF_eas=0.1658;AF_nfe=0.2574;AF_fin=0.2461;AF_asj=0.3287;AF_oth=0.2635;non_topmed_AF_popmax=0.3297;non_neuro_AF_popmax=0.3320;non_cancer_AF_popmax=.;controls_AF_popmax=0.3238;Kaviar_AF=0.140063;Kaviar_AC=21654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END GT 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2602288 rs145943642 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21145;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145943642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.583121;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2602307 rs56412831 C G 100 PASS AC=11;AF=0.0876597;AN=214;NS=2504;DP=20719;EAS_AF=0.002;AMR_AF=0.0533;AFR_AF=0.2398;EUR_AF=0.0417;SAS_AF=0.0419;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56412831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.1974;ExAC_nontcga_AMR=0.0264;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0526;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0319;AF=0.0852;AF_popmax=0.1984;AF_male=0.0871;AF_female=0.0827;AF_raw=0.0853;AF_afr=0.1984;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0489;AF_fin=0.0273;AF_asj=0.0690;AF_oth=0.0450;non_topmed_AF_popmax=0.1976;non_neuro_AF_popmax=0.1941;non_cancer_AF_popmax=.;controls_AF_popmax=0.1990;Kaviar_AF=0.052412;Kaviar_AC=8103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.577165;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56412831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.1974;ExAC_nontcga_AMR=0.0264;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0526;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0319;AF=0.0852;AF_popmax=0.1984;AF_male=0.0871;AF_female=0.0827;AF_raw=0.0853;AF_afr=0.1984;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0489;AF_fin=0.0273;AF_asj=0.0690;AF_oth=0.0450;non_topmed_AF_popmax=0.1976;non_neuro_AF_popmax=0.1941;non_cancer_AF_popmax=.;controls_AF_popmax=0.1990;Kaviar_AF=0.052412;Kaviar_AC=8103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.577165;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2613521 rs1008832 A G 100 PASS AC=96;AF=0.546326;AN=214;NS=2504;DP=18278;EAS_AF=0.5179;AMR_AF=0.4409;AFR_AF=0.8328;EUR_AF=0.3757;SAS_AF=0.4387;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.546326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1008832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4891;AF_popmax=0.7724;AF_male=0.4955;AF_female=0.4811;AF_raw=0.4895;AF_afr=0.7724;AF_sas=.;AF_amr=0.4169;AF_eas=0.5465;AF_nfe=0.3714;AF_fin=0.3300;AF_asj=0.4828;AF_oth=0.3736;non_topmed_AF_popmax=0.7727;non_neuro_AF_popmax=0.7726;non_cancer_AF_popmax=.;controls_AF_popmax=0.7753;Kaviar_AF=0.0817842;Kaviar_AC=12644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231293|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.410224;ALLELE_END GT 0|1 1|0 1|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 1|1 1|1 0|1 0|0 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|0 0|1 1|1 1|0 1|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 +12 2613716 rs2238087 C T 100 PASS AC=26;AF=0.0782748;AN=214;NS=2504;DP=21473;EAS_AF=0.1369;AMR_AF=0.0648;AFR_AF=0.0416;EUR_AF=0.0924;SAS_AF=0.0624;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2238087;CLNALLELEID=140317;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0868;ExAC_nontcga_ALL=0.0749;ExAC_nontcga_AFR=0.0456;ExAC_nontcga_AMR=0.0453;ExAC_nontcga_EAS=0.1387;ExAC_nontcga_FIN=0.0434;ExAC_nontcga_NFE=0.0806;ExAC_nontcga_OTH=0.0449;ExAC_nontcga_SAS=0.0749;AF=0.0633;AF_popmax=0.1485;AF_male=0.0635;AF_female=0.0630;AF_raw=0.0632;AF_afr=0.0405;AF_sas=.;AF_amr=0.0601;AF_eas=0.1485;AF_nfe=0.0718;AF_fin=0.0397;AF_asj=0.1241;AF_oth=0.0646;non_topmed_AF_popmax=0.1482;non_neuro_AF_popmax=0.1485;non_cancer_AF_popmax=.;controls_AF_popmax=0.1466;Kaviar_AF=0.0752836;Kaviar_AC=11639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.228769;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2614070 rs1051360 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129827:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129829:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129830:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129831:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129832:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129833:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129834:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129835:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129836:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129837:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129838:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129839:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129841:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129842:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129843:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129844:exon8:c.G1167T:p.G389G,CACNA1C:NM_001129846:exon8:c.G1176T:p.G392G,CACNA1C:NM_199460:exon8:c.G1176T:p.G392G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1051360;CLNALLELEID=177533;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=6.742e-05;AF=0.0021;AF_popmax=0.0031;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0012;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805318;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2621912 rs2239098 G A 100 PASS AC=20;AF=0.0597045;AN=214;NS=2504;DP=18138;EAS_AF=0.1339;AMR_AF=0.0447;AFR_AF=0.0144;EUR_AF=0.0537;SAS_AF=0.0613;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0597045;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0384;AF_popmax=0.1433;AF_male=0.0385;AF_female=0.0382;AF_raw=0.0383;AF_afr=0.0115;AF_sas=.;AF_amr=0.0496;AF_eas=0.1433;AF_nfe=0.0448;AF_fin=0.0210;AF_asj=0.1103;AF_oth=0.0396;non_topmed_AF_popmax=0.1430;non_neuro_AF_popmax=0.1433;non_cancer_AF_popmax=.;controls_AF_popmax=0.1422;Kaviar_AF=0.0089456;Kaviar_AC=1383;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2622016 rs563266850 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17191;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129827:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129829:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129830:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129831:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129832:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129833:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129834:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129835:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129836:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129837:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129838:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129839:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129840:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129841:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129842:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129843:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129844:exon9:c.G1247C:p.G416A,CACNA1C:NM_001129846:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167623:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167624:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167625:exon9:c.G1256C:p.G419A,CACNA1C:NM_199460:exon9:c.G1256C:p.G419A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563266850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.853;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.85;MutationAssessor_score_rankscore=0.959;MutationAssessor_pred=H;FATHMM_score=-4.87;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-5.61;PROVEAN_converted_rankscore=0.872;PROVEAN_pred=D;VEST3_score=0.711;VEST3_rankscore=0.790;MetaSVM_score=1.076;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.974;MetaLR_rankscore=0.992;MetaLR_pred=D;M-CAP_score=0.894;M-CAP_rankscore=0.992;M-CAP_pred=D;REVEL_score=0.878;REVEL_rankscore=0.964;MutPred_score=0.333;MutPred_rankscore=0.321;CADD_raw=5.692;CADD_raw_rankscore=0.777;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.942;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.956;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.016;Eigen-PC-raw=0.920;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=9.994;phyloP100way_vertebrate_rankscore=0.993;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.129;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.021e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.952e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.619773;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2659082 rs11062272 G T 100 PASS AC=59;AF=0.294928;AN=214;NS=2504;DP=20309;EAS_AF=0.2202;AMR_AF=0.2939;AFR_AF=0.4546;EUR_AF=0.2266;SAS_AF=0.227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.294928;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11062272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2256;ExAC_nontcga_ALL=0.3241;ExAC_nontcga_AFR=0.4791;ExAC_nontcga_AMR=0.3901;ExAC_nontcga_EAS=0.3417;ExAC_nontcga_FIN=0.3470;ExAC_nontcga_NFE=0.3213;ExAC_nontcga_OTH=0.3101;ExAC_nontcga_SAS=0.2349;AF=0.2815;AF_popmax=0.4273;AF_male=0.2838;AF_female=0.2786;AF_raw=0.2820;AF_afr=0.4273;AF_sas=.;AF_amr=0.2323;AF_eas=0.2279;AF_nfe=0.2291;AF_fin=0.2083;AF_asj=0.2586;AF_oth=0.2145;non_topmed_AF_popmax=0.4276;non_neuro_AF_popmax=0.4264;non_cancer_AF_popmax=.;controls_AF_popmax=0.4258;Kaviar_AF=0.208788;Kaviar_AC=32279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.769595;ALLELE_END GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 +12 2666051 rs140192141 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140192141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2675802 rs2283325 G A 100 PASS AC=5;AF=0.0561102;AN=214;NS=2504;DP=15032;EAS_AF=0.1339;AMR_AF=0.1138;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0562;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0561102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2283325;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0164;AF_popmax=0.1244;AF_male=0.0172;AF_female=0.0154;AF_raw=0.0165;AF_afr=0.0034;AF_sas=.;AF_amr=0.0908;AF_eas=0.1244;AF_nfe=0.0117;AF_fin=0.0032;AF_asj=0.0207;AF_oth=0.0165;non_topmed_AF_popmax=0.1235;non_neuro_AF_popmax=0.1244;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0345781;Kaviar_AC=900;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501388|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.105736;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2676683 rs2370602 C T 100 PASS AC=166;AF=0.86222;AN=214;NS=2504;DP=20061;EAS_AF=0.995;AMR_AF=0.9006;AFR_AF=0.7489;EUR_AF=0.8499;SAS_AF=0.864;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.86222;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2370602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8291;AF_popmax=0.9904;AF_male=0.8317;AF_female=0.8258;AF_raw=0.8287;AF_afr=0.7635;AF_sas=.;AF_amr=0.8936;AF_eas=0.9904;AF_nfe=0.8408;AF_fin=0.8493;AF_asj=0.8034;AF_oth=0.8471;non_topmed_AF_popmax=0.9901;non_neuro_AF_popmax=0.9904;non_cancer_AF_popmax=.;controls_AF_popmax=0.9902;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501388|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.331030;ALLELE_END GT 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +12 2690702 rs11832738 G A 100 PASS AC=127;AF=0.586661;AN=214;NS=2504;DP=17591;EAS_AF=0.7252;AMR_AF=0.6427;AFR_AF=0.289;EUR_AF=0.7038;SAS_AF=0.6861;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.586661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11832738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6251;AF_popmax=0.7193;AF_male=0.6192;AF_female=0.6326;AF_raw=0.6245;AF_afr=0.3542;AF_sas=.;AF_amr=0.7151;AF_eas=0.7193;AF_nfe=0.7184;AF_fin=0.7999;AF_asj=0.5621;AF_oth=0.7269;non_topmed_AF_popmax=0.7238;non_neuro_AF_popmax=0.7193;non_cancer_AF_popmax=.;controls_AF_popmax=0.734;Kaviar_AF=0.118343;Kaviar_AC=18296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 0|1 0|1 1|1 0|0 1|1 0|0 0|1 1|0 0|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|0 1|0 1|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 1|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|0 1|1 1|1 0|1 0|1 +12 2692186 rs3751254 T G 100 PASS AC=153;AF=0.632588;AN=214;NS=2504;DP=7116;EAS_AF=0.744;AMR_AF=0.7248;AFR_AF=0.3389;EUR_AF=0.7744;SAS_AF=0.7035;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.632588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3751254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6752;AF_popmax=0.7738;AF_male=0.6726;AF_female=0.6783;AF_raw=0.6712;AF_afr=0.4240;AF_sas=.;AF_amr=0.7145;AF_eas=0.7255;AF_nfe=0.7738;AF_fin=0.8002;AF_asj=0.6154;AF_oth=0.7770;non_topmed_AF_popmax=0.7782;non_neuro_AF_popmax=0.7734;non_cancer_AF_popmax=.;controls_AF_popmax=0.7955;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000448446|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1180333|N/A|TFAP2C|PAZAR,OREG1837260|N/A|PRDM14|PAZAR,OREG1231295|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.994648;ALLELE_END GT 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|1 +12 2693848 rs545286577 G A 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=15759;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545286577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0010373;Kaviar_AC=27;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.799344;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2694470 rs11062281 G A 100 PASS AC=1;AF=0.0415335;AN=214;NS=2504;DP=19536;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.146;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0415335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11062281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0355;AF_popmax=0.1251;AF_male=0.0376;AF_female=0.0330;AF_raw=0.0356;AF_afr=0.1251;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.1257;non_neuro_AF_popmax=0.1231;non_cancer_AF_popmax=.;controls_AF_popmax=0.1227;Kaviar_AF=0.0122176;Kaviar_AC=318;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.765479;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2694638 rs215976 C T 100 PASS AC=25;AF=0.145567;AN=214;NS=2504;DP=14849;EAS_AF=0.2966;AMR_AF=0.0576;AFR_AF=0.0877;EUR_AF=0.0885;SAS_AF=0.1892;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129827:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129829:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129830:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129831:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129832:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129833:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129834:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129835:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129836:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129837:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129838:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129839:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129840:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129841:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129842:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129843:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129844:exon17:c.C2427T:p.D809D,CACNA1C:NM_001129846:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167623:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167624:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167625:exon17:c.C2436T:p.D812D,CACNA1C:NM_199460:exon17:c.C2436T:p.D812D;1000g2015aug_all=0.145567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs215976;CLNALLELEID=99305;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0786;ExAC_nontcga_ALL=0.1703;ExAC_nontcga_AFR=0.1183;ExAC_nontcga_AMR=0.1010;ExAC_nontcga_EAS=0.3473;ExAC_nontcga_FIN=0.1483;ExAC_nontcga_NFE=0.1356;ExAC_nontcga_OTH=0.1622;ExAC_nontcga_SAS=0.2096;AF=0.0913;AF_popmax=0.2918;AF_male=0.0919;AF_female=0.0906;AF_raw=0.0916;AF_afr=0.0789;AF_sas=.;AF_amr=0.0649;AF_eas=0.2918;AF_nfe=0.0772;AF_fin=0.1002;AF_asj=0.1310;AF_oth=0.0855;non_topmed_AF_popmax=0.2912;non_neuro_AF_popmax=0.2918;non_cancer_AF_popmax=.;controls_AF_popmax=0.3009;Kaviar_AF=0.0873727;Kaviar_AC=13508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.726858;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2694651 rs112532048 C T 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=15691;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129827:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129829:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129830:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129831:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129832:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129833:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129834:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129835:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129836:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129837:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129838:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129839:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129840:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129841:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129842:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129843:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129844:exon17:c.C2440T:p.P814S,CACNA1C:NM_001129846:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167623:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167624:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167625:exon17:c.C2449T:p.P817S,CACNA1C:NM_199460:exon17:c.C2449T:p.P817S;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112532048;CLNALLELEID=99306;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.259;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.014;LRT_converted_rankscore=0.287;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.488;MutationTaster_pred=D;MutationAssessor_score=0.92;MutationAssessor_score_rankscore=0.235;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_converted_rankscore=0.958;FATHMM_pred=D;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.406;PROVEAN_pred=N;VEST3_score=0.239;VEST3_rankscore=0.293;MetaSVM_score=0.587;MetaSVM_rankscore=0.917;MetaSVM_pred=D;MetaLR_score=0.839;MetaLR_rankscore=0.946;MetaLR_pred=D;M-CAP_score=0.038;M-CAP_rankscore=0.582;M-CAP_pred=D;REVEL_score=0.341;REVEL_rankscore=0.667;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.997;CADD_raw_rankscore=0.672;CADD_phred=25.1;DANN_score=0.997;DANN_rankscore=0.829;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.909;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.294;Eigen-PC-raw=0.429;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=5.629;phyloP100way_vertebrate_rankscore=0.673;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=20.478;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0034;AF_popmax=0.0054;AF_male=0.0031;AF_female=0.0038;AF_raw=0.0034;AF_afr=0.0016;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0064;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.801019;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2695136 rs56291949 C T 100 PASS AC=2;AF=0.00638978;AN=214;NS=2504;DP=18414;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56291949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0189;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0227;AF_popmax=0.0206;AF_male=0.0216;AF_female=0.0240;AF_raw=0.0227;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0206;AF_fin=0.0930;AF_asj=0;AF_oth=0.0405;non_topmed_AF_popmax=0.0225;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0027167;Kaviar_AC=420;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.798291;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2706720 rs215983 G C 100 PASS AC=204;AF=0.951278;AN=214;NS=2504;DP=21251;EAS_AF=1;AMR_AF=0.9697;AFR_AF=0.8707;EUR_AF=0.9573;SAS_AF=0.9908;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.951278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs215983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9739;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9528;AF_popmax=1;AF_male=0.9520;AF_female=0.9537;AF_raw=0.9527;AF_afr=0.8850;AF_sas=.;AF_amr=0.9729;AF_eas=1;AF_nfe=0.9756;AF_fin=0.9879;AF_asj=0.9517;AF_oth=0.9761;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.186485;Kaviar_AC=28831;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.694135;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 2706781 rs148295373 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19844;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148295373;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.569e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.842218;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2714835 rs186741807 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21244;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186741807;CLNALLELEID=177535;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0012;AF=0.0006;AF_popmax=0.0006;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501389|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.993995;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2715687 rs758560 A G 100 PASS AC=33;AF=0.0535144;AN=214;NS=2504;DP=23327;EAS_AF=0.005;AMR_AF=0.0706;AFR_AF=0.0159;EUR_AF=0.1173;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758560;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0747;AF_popmax=0.1081;AF_male=0.0721;AF_female=0.0780;AF_raw=0.0747;AF_afr=0.0281;AF_sas=.;AF_amr=0.0578;AF_eas=0.0058;AF_nfe=0.1081;AF_fin=0.0682;AF_asj=0.1103;AF_oth=0.0969;non_topmed_AF_popmax=0.1111;non_neuro_AF_popmax=0.1084;non_cancer_AF_popmax=.;controls_AF_popmax=0.1170;Kaviar_AF=0.0135703;Kaviar_AC=2098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.250824;ALLELE_END GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2715941 rs112353655 G A 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=21099;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0234;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112353655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0067;AF_popmax=0.0237;AF_male=0.0071;AF_female=0.0062;AF_raw=0.0068;AF_afr=0.0237;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0232;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0206;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.069674;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +12 2717661 rs201876309 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18410;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201876309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.748e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.811e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.787542;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2719934 rs55641425 C T 100 PASS AC=33;AF=0.052516;AN=214;NS=2504;DP=23122;EAS_AF=0.005;AMR_AF=0.0648;AFR_AF=0.0159;EUR_AF=0.1173;SAS_AF=0.0757;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.052516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55641425;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0745;AF_popmax=0.1079;AF_male=0.0718;AF_female=0.0780;AF_raw=0.0746;AF_afr=0.0281;AF_sas=.;AF_amr=0.0567;AF_eas=0.0058;AF_nfe=0.1079;AF_fin=0.0680;AF_asj=0.1103;AF_oth=0.0974;non_topmed_AF_popmax=0.1111;non_neuro_AF_popmax=0.1083;non_cancer_AF_popmax=.;controls_AF_popmax=0.1175;Kaviar_AF=0.0157242;Kaviar_AC=2431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2720988 rs216007 T C 100 PASS AC=60;AF=0.261781;AN=214;NS=2504;DP=18517;EAS_AF=0.3512;AMR_AF=0.2262;AFR_AF=0.2504;EUR_AF=0.2087;SAS_AF=0.2648;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.261781;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2080;AF_popmax=0.3669;AF_male=0.2084;AF_female=0.2076;AF_raw=0.2085;AF_afr=0.2356;AF_sas=.;AF_amr=0.1851;AF_eas=0.3669;AF_nfe=0.1898;AF_fin=0.1533;AF_asj=0.2690;AF_oth=0.1957;non_topmed_AF_popmax=0.3669;non_neuro_AF_popmax=0.3669;non_cancer_AF_popmax=.;controls_AF_popmax=0.3764;Kaviar_AF=0.0394756;Kaviar_AC=6103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +12 2721137 rs216008 C T 100 PASS AC=60;AF=0.259185;AN=214;NS=2504;DP=21995;EAS_AF=0.3512;AMR_AF=0.2262;AFR_AF=0.2413;EUR_AF=0.2087;SAS_AF=0.2638;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;1000g2015aug_all=0.259185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216008;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2105;ExAC_nontcga_AFR=0.2355;ExAC_nontcga_AMR=0.2128;ExAC_nontcga_EAS=0.3582;ExAC_nontcga_FIN=0.1621;ExAC_nontcga_NFE=0.1837;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.2337;AF=0.2077;AF_popmax=0.3700;AF_male=0.2078;AF_female=0.2075;AF_raw=0.2078;AF_afr=0.2338;AF_sas=.;AF_amr=0.1851;AF_eas=0.3700;AF_nfe=0.1903;AF_fin=0.1533;AF_asj=0.2483;AF_oth=0.1950;non_topmed_AF_popmax=0.3695;non_neuro_AF_popmax=0.3700;non_cancer_AF_popmax=.;controls_AF_popmax=0.3783;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.826561;ALLELE_END GT 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +12 2743567 rs149125625 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16734;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149125625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.447e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.663284;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149125625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.447e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.663284;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2743650 rs572067452 A AT 100 PASS AC=48;AF=0.204273;AN=214;NS=2504;DP=18458;EAS_AF=0.2272;AMR_AF=0.1023;AFR_AF=0.2859;EUR_AF=0.173;SAS_AF=0.1748;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.204273;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397965444;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3119;AF_popmax=0.4158;AF_male=0.3093;AF_female=0.3155;AF_raw=0.1750;AF_afr=0.3780;AF_sas=.;AF_amr=0.2316;AF_eas=0.4158;AF_nfe=0.2752;AF_fin=0.1860;AF_asj=0.24;AF_oth=0.2614;non_topmed_AF_popmax=0.4154;non_neuro_AF_popmax=0.4158;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.0026126;Kaviar_AC=68;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.825804;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +12 2757756 rs2239127 T C 100 PASS AC=153;AF=0.666933;AN=214;NS=2504;DP=12311;EAS_AF=0.6766;AMR_AF=0.8588;AFR_AF=0.4455;EUR_AF=0.7903;SAS_AF=0.6933;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7187;AF_popmax=0.8361;AF_male=0.7128;AF_female=0.7260;AF_raw=0.7174;AF_afr=0.4900;AF_sas=.;AF_amr=0.8361;AF_eas=0.6339;AF_nfe=0.8153;AF_fin=0.8375;AF_asj=0.7793;AF_oth=0.7980;non_topmed_AF_popmax=0.8358;non_neuro_AF_popmax=0.8266;non_cancer_AF_popmax=.;controls_AF_popmax=0.8387;Kaviar_AF=0.659136;Kaviar_AC=17156;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.554267;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2757769 rs2239128 T C 100 PASS AC=154;AF=0.666534;AN=214;NS=2504;DP=12920;EAS_AF=0.6766;AMR_AF=0.8545;AFR_AF=0.4463;EUR_AF=0.7893;SAS_AF=0.6943;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.666534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239128;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7184;AF_popmax=0.8373;AF_male=0.7122;AF_female=0.7263;AF_raw=0.7182;AF_afr=0.4904;AF_sas=.;AF_amr=0.8373;AF_eas=0.6316;AF_nfe=0.8153;AF_fin=0.8374;AF_asj=0.7793;AF_oth=0.8002;non_topmed_AF_popmax=0.8387;non_neuro_AF_popmax=0.8285;non_cancer_AF_popmax=.;controls_AF_popmax=0.8392;Kaviar_AF=0.124015;Kaviar_AC=19173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534468;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2757782 rs2239129 C T 100 PASS AC=152;AF=0.652955;AN=214;NS=2504;DP=13528;EAS_AF=0.6746;AMR_AF=0.8516;AFR_AF=0.4085;EUR_AF=0.7773;SAS_AF=0.6922;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.652955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6997;AF_popmax=0.8365;AF_male=0.6941;AF_female=0.7068;AF_raw=0.6998;AF_afr=0.4581;AF_sas=.;AF_amr=0.8365;AF_eas=0.6297;AF_nfe=0.8011;AF_fin=0.8182;AF_asj=0.7743;AF_oth=0.7882;non_topmed_AF_popmax=0.8366;non_neuro_AF_popmax=0.8291;non_cancer_AF_popmax=.;controls_AF_popmax=0.8239;Kaviar_AF=0.141686;Kaviar_AC=21905;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.318145;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2760708 rs216045 G A 100 PASS AC=148;AF=0.670727;AN=214;NS=2504;DP=16334;EAS_AF=0.7123;AMR_AF=0.817;AFR_AF=0.3971;EUR_AF=0.7614;SAS_AF=0.8006;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.670727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7671;ExAC_nontcga_ALL=0.7541;ExAC_nontcga_AFR=0.4221;ExAC_nontcga_AMR=0.8774;ExAC_nontcga_EAS=0.7246;ExAC_nontcga_FIN=0.7856;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7971;ExAC_nontcga_SAS=0.8092;AF=0.6792;AF_popmax=0.8258;AF_male=0.6782;AF_female=0.6805;AF_raw=0.6788;AF_afr=0.4235;AF_sas=.;AF_amr=0.8258;AF_eas=0.6957;AF_nfe=0.7791;AF_fin=0.7989;AF_asj=0.7517;AF_oth=0.7692;non_topmed_AF_popmax=0.8243;non_neuro_AF_popmax=0.8127;non_cancer_AF_popmax=.;controls_AF_popmax=0.7853;Kaviar_AF=0.731414;Kaviar_AC=113078;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.468885;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 +12 2760898 rs56180838 C T 100 PASS AC=13;AF=0.023762;AN=214;NS=2504;DP=18107;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.003;EUR_AF=0.0825;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;1000g2015aug_all=0.023762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56180838;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0673;ExAC_nontcga_ALL=0.0478;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0259;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0867;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0173;AF=0.0484;AF_popmax=0.0682;AF_male=0.0464;AF_female=0.0509;AF_raw=0.0486;AF_afr=0.0097;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0682;AF_fin=0.0784;AF_asj=0.0552;AF_oth=0.0635;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0690;non_cancer_AF_popmax=.;controls_AF_popmax=0.0747;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830000;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;1000g2015aug_all=0.023762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56180838;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0673;ExAC_nontcga_ALL=0.0478;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0259;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0867;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0173;AF=0.0484;AF_popmax=0.0682;AF_male=0.0464;AF_female=0.0509;AF_raw=0.0486;AF_afr=0.0097;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0682;AF_fin=0.0784;AF_asj=0.0552;AF_oth=0.0635;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0690;non_cancer_AF_popmax=.;controls_AF_popmax=0.0747;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830000;ALLELE_END GT 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2760965 rs34428885 GA G 100 PASS AC=79;AF=0.382987;AN=214;NS=2504;DP=15910;EAS_AF=0.2817;AMR_AF=0.2277;AFR_AF=0.652;EUR_AF=0.2952;SAS_AF=0.3241;AA=A|AA|A|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34428885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2809;ExAC_nontcga_ALL=0.3012;ExAC_nontcga_AFR=0.5985;ExAC_nontcga_AMR=0.1626;ExAC_nontcga_EAS=0.2755;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.2519;ExAC_nontcga_SAS=0.3365;AF=0.3507;AF_popmax=0.6031;AF_male=0.3566;AF_female=0.3432;AF_raw=0.3519;AF_afr=0.6031;AF_sas=.;AF_amr=0.2168;AF_eas=0.2861;AF_nfe=0.2604;AF_fin=0.2079;AF_asj=0.3438;AF_oth=0.2675;non_topmed_AF_popmax=0.6023;non_neuro_AF_popmax=0.5946;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34428885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2809;ExAC_nontcga_ALL=0.3012;ExAC_nontcga_AFR=0.5985;ExAC_nontcga_AMR=0.1626;ExAC_nontcga_EAS=0.2755;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.2519;ExAC_nontcga_SAS=0.3365;AF=0.3507;AF_popmax=0.6031;AF_male=0.3566;AF_female=0.3432;AF_raw=0.3519;AF_afr=0.6031;AF_sas=.;AF_amr=0.2168;AF_eas=0.2861;AF_nfe=0.2604;AF_fin=0.2079;AF_asj=0.3438;AF_oth=0.2675;non_topmed_AF_popmax=0.6023;non_neuro_AF_popmax=0.5946;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 1|1 1|1 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|0 +12 2760970 rs1990322 G A 100 PASS AC=132;AF=0.553914;AN=214;NS=2504;DP=15779;EAS_AF=0.7173;AMR_AF=0.7478;AFR_AF=0.1301;EUR_AF=0.7008;SAS_AF=0.6697;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1990322;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7204;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.2181;ExAC_nontcga_AMR=0.8376;ExAC_nontcga_EAS=0.7418;ExAC_nontcga_FIN=0.8007;ExAC_nontcga_NFE=0.7238;ExAC_nontcga_OTH=0.76;ExAC_nontcga_SAS=0.6768;AF=0.5918;AF_popmax=0.7708;AF_male=0.5853;AF_female=0.5999;AF_raw=0.5907;AF_afr=0.2010;AF_sas=.;AF_amr=0.7708;AF_eas=0.7153;AF_nfe=0.7353;AF_fin=0.7922;AF_asj=0.6517;AF_oth=0.7135;non_topmed_AF_popmax=0.7699;non_neuro_AF_popmax=0.7582;non_cancer_AF_popmax=.;controls_AF_popmax=0.7664;Kaviar_AF=0.652786;Kaviar_AC=100922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1990322;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7204;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.2181;ExAC_nontcga_AMR=0.8376;ExAC_nontcga_EAS=0.7418;ExAC_nontcga_FIN=0.8007;ExAC_nontcga_NFE=0.7238;ExAC_nontcga_OTH=0.76;ExAC_nontcga_SAS=0.6768;AF=0.5918;AF_popmax=0.7708;AF_male=0.5853;AF_female=0.5999;AF_raw=0.5907;AF_afr=0.2010;AF_sas=.;AF_amr=0.7708;AF_eas=0.7153;AF_nfe=0.7353;AF_fin=0.7922;AF_asj=0.6517;AF_oth=0.7135;non_topmed_AF_popmax=0.7699;non_neuro_AF_popmax=0.7582;non_cancer_AF_popmax=.;controls_AF_popmax=0.7664;Kaviar_AF=0.652786;Kaviar_AC=100922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 +12 2763143 rs114714957 G T 100 PASS AC=3;AF=0.0119808;AN=214;NS=2504;DP=18933;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0333;EUR_AF=0.005;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114714957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0094;AF_popmax=0.0289;AF_male=0.0094;AF_female=0.0094;AF_raw=0.0095;AF_afr=0.0289;AF_sas=.;AF_amr=0.0071;AF_eas=0.0006;AF_nfe=0.0022;AF_fin=0;AF_asj=0.0035;AF_oth=0.0018;non_topmed_AF_popmax=0.0287;non_neuro_AF_popmax=0.0287;non_cancer_AF_popmax=.;controls_AF_popmax=0.0312;Kaviar_AF=0.0009185;Kaviar_AC=142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.979367;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2774833 rs41276710 T C 100 PASS AC=3;AF=0.0385383;AN=214;NS=2504;DP=20770;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.1293;EUR_AF=0.005;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129838:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129839:exon35:c.T4446C:p.D1482D,CACNA1C:NM_001129846:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001167625:exon35:c.T4452C:p.D1484D,CACNA1C:NM_000719:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129829:exon36:c.T4551C:p.D1517D,CACNA1C:NM_001129830:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129833:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129834:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129835:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129836:exon36:c.T4536C:p.D1512D,CACNA1C:NM_001129840:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129841:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129842:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129843:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129844:exon36:c.T4476C:p.D1492D,CACNA1C:NM_001167623:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001167624:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129831:exon37:c.T4569C:p.D1523D,CACNA1C:NM_001129832:exon37:c.T4545C:p.D1515D,CACNA1C:NM_001129827:exon38:c.T4629C:p.D1543D,CACNA1C:NM_199460:exon38:c.T4629C:p.D1543D;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41276710;CLNALLELEID=99314;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.1347;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0082;AF=0.0373;AF_popmax=0.1267;AF_male=0.0373;AF_female=0.0373;AF_raw=0.0373;AF_afr=0.1267;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0030;AF_fin=0;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.1270;non_neuro_AF_popmax=0.1307;non_cancer_AF_popmax=.;controls_AF_popmax=0.1319;Kaviar_AF=0.0139067;Kaviar_AC=2150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.828309;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778044 rs189712469 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20085;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189712469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778061 rs58893912 C G 100 PASS AC=1;AF=0.0738818;AN=214;NS=2504;DP=21326;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.2632;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58893912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0222;ExAC_nontcga_AFR=0.2503;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0681;AF_popmax=0.2411;AF_male=0.0702;AF_female=0.0655;AF_raw=0.0682;AF_afr=0.2411;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.2417;non_neuro_AF_popmax=0.2467;non_cancer_AF_popmax=.;controls_AF_popmax=0.2510;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778272 rs3834937 G GC 100 PASS AC=11;AF=0.104633;AN=214;NS=2504;DP=18094;EAS_AF=0.131;AMR_AF=0.1585;AFR_AF=0.1619;EUR_AF=0.0437;SAS_AF=0.0245;AA=CC|CC|CCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.104633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35749666;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0813;AF_popmax=0.1702;AF_male=0.0814;AF_female=0.0812;AF_raw=0.0816;AF_afr=0.1702;AF_sas=.;AF_amr=0.1374;AF_eas=0.1091;AF_nfe=0.0394;AF_fin=0.0291;AF_asj=0.0310;AF_oth=0.0617;non_topmed_AF_popmax=0.1704;non_neuro_AF_popmax=0.1730;non_cancer_AF_popmax=.;controls_AF_popmax=0.1750;Kaviar_AF=0.0134855;Kaviar_AC=351;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2786193 rs538728204 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16405;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538728204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.193e-05;AF_popmax=6.495e-05;AF_male=5.739e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.495e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.047e-05;non_neuro_AF_popmax=7.361e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2787058 rs2302731 C T 100 PASS AC=9;AF=0.0802716;AN=214;NS=2504;DP=18590;EAS_AF=0.128;AMR_AF=0.1427;AFR_AF=0.0885;EUR_AF=0.0398;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0802716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0346;ExAC_nontcga_ALL=0.0563;ExAC_nontcga_AFR=0.0829;ExAC_nontcga_AMR=0.1459;ExAC_nontcga_EAS=0.1175;ExAC_nontcga_FIN=0.0377;ExAC_nontcga_NFE=0.0345;ExAC_nontcga_OTH=0.0407;ExAC_nontcga_SAS=0.0323;AF=0.0555;AF_popmax=0.1324;AF_male=0.0551;AF_female=0.0559;AF_raw=0.0556;AF_afr=0.0867;AF_sas=.;AF_amr=0.1324;AF_eas=0.1049;AF_nfe=0.0356;AF_fin=0.0285;AF_asj=0.0241;AF_oth=0.0516;non_topmed_AF_popmax=0.1346;non_neuro_AF_popmax=0.1286;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.0538738;Kaviar_AC=8329;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2788615 rs113595214 C T 100 PASS AC=3;AF=0.00299521;AN=214;NS=2504;DP=16763;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129838:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129839:exon41:c.C5115T:p.A1705A,CACNA1C:NM_001129846:exon41:c.C5064T:p.A1688A,CACNA1C:NM_001167625:exon41:c.C5064T:p.A1688A,CACNA1C:NM_000719:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129829:exon42:c.C5220T:p.A1740A,CACNA1C:NM_001129830:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129833:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129834:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129835:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129836:exon42:c.C5148T:p.A1716A,CACNA1C:NM_001129840:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129841:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129842:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129843:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129844:exon42:c.C5088T:p.A1696A,CACNA1C:NM_001167623:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001167624:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129831:exon43:c.C5181T:p.A1727A,CACNA1C:NM_001129832:exon43:c.C5157T:p.A1719A,CACNA1C:NM_001129827:exon44:c.C5241T:p.A1747A,CACNA1C:NM_199460:exon44:c.C5241T:p.A1747A;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113595214;CLNALLELEID=99316;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0243;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0651;ExAC_nontcga_NFE=0.0297;ExAC_nontcga_OTH=0.0658;ExAC_nontcga_SAS=0.0062;AF=0.0092;AF_popmax=0.0135;AF_male=0.0086;AF_female=0.0101;AF_raw=0.0094;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0155;AF_asj=0.0034;AF_oth=0.0147;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.0056403;Kaviar_AC=872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.792239;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788637 rs147896322 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129838:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129839:exon41:c.G5137A:p.V1713I,CACNA1C:NM_001129846:exon41:c.G5086A:p.V1696I,CACNA1C:NM_001167625:exon41:c.G5086A:p.V1696I,CACNA1C:NM_000719:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129829:exon42:c.G5242A:p.V1748I,CACNA1C:NM_001129830:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129833:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129834:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129835:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129836:exon42:c.G5170A:p.V1724I,CACNA1C:NM_001129840:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129841:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129842:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129843:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129844:exon42:c.G5110A:p.V1704I,CACNA1C:NM_001167623:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001167624:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129831:exon43:c.G5203A:p.V1735I,CACNA1C:NM_001129832:exon43:c.G5179A:p.V1727I,CACNA1C:NM_001129827:exon44:c.G5263A:p.V1755I,CACNA1C:NM_199460:exon44:c.G5263A:p.V1755I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147896322;CLNALLELEID=188609;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.152;SIFT_converted_rankscore=0.252;SIFT_pred=T;Polyphen2_HDIV_score=0.591;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.126;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.32;MutationAssessor_score_rankscore=0.666;MutationAssessor_pred=M;FATHMM_score=-3.92;FATHMM_converted_rankscore=0.963;FATHMM_pred=D;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.176;PROVEAN_pred=N;VEST3_score=0.407;VEST3_rankscore=0.543;MetaSVM_score=0.500;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.935;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.173;M-CAP_rankscore=0.851;M-CAP_pred=D;REVEL_score=0.502;REVEL_rankscore=0.787;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.307;CADD_raw_rankscore=0.577;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.928;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.505;Eigen-PC-raw=0.513;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.4;GERP++_RS_rankscore=0.522;phyloP100way_vertebrate=9.301;phyloP100way_vertebrate_rankscore=0.952;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=17.178;SiPhy_29way_logOdds_rankscore=0.867;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=0.0002;AF_popmax=0.0012;AF_male=0.0003;AF_female=7.185e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.762694;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788732 rs199538058 C A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=16621;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129838:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129839:exon41:c.C5232A:p.G1744G,CACNA1C:NM_001129846:exon41:c.C5181A:p.G1727G,CACNA1C:NM_001167625:exon41:c.C5181A:p.G1727G,CACNA1C:NM_000719:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129829:exon42:c.C5337A:p.G1779G,CACNA1C:NM_001129830:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129833:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129834:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129835:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129836:exon42:c.C5265A:p.G1755G,CACNA1C:NM_001129840:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129841:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129842:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129843:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129844:exon42:c.C5205A:p.G1735G,CACNA1C:NM_001167623:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001167624:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129831:exon43:c.C5298A:p.G1766G,CACNA1C:NM_001129832:exon43:c.C5274A:p.G1758G,CACNA1C:NM_001129827:exon44:c.C5358A:p.G1786G,CACNA1C:NM_199460:exon44:c.C5358A:p.G1786G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199538058;CLNALLELEID=140335;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0002;AF=0.0011;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0138;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012548;Kaviar_AC=194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694112;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788810 rs72552065 C T 100 PASS AC=11;AF=0.019369;AN=214;NS=2504;DP=16794;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0023;EUR_AF=0.0577;SAS_AF=0.0072;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72552065;CLNALLELEID=140336;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0613;ExAC_nontcga_ALL=0.0439;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0225;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0507;ExAC_nontcga_NFE=0.0681;ExAC_nontcga_OTH=0.0443;ExAC_nontcga_SAS=0.0134;AF=0.0445;AF_popmax=0.0678;AF_male=0.0445;AF_female=0.0445;AF_raw=0.0446;AF_afr=0.0105;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0678;AF_fin=0.0467;AF_asj=0.0690;AF_oth=0.0534;non_topmed_AF_popmax=0.0664;non_neuro_AF_popmax=0.0674;non_cancer_AF_popmax=.;controls_AF_popmax=0.0644;Kaviar_AF=0.044579;Kaviar_AC=6892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.722031;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788879 rs1051375 G A 100 PASS AC=137;AF=0.526358;AN=214;NS=2504;DP=17117;EAS_AF=0.6062;AMR_AF=0.6542;AFR_AF=0.1717;EUR_AF=0.7038;SAS_AF=0.6503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;1000g2015aug_all=0.526358;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1051375;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7295;ExAC_nontcga_ALL=0.6964;ExAC_nontcga_AFR=0.2802;ExAC_nontcga_AMR=0.7427;ExAC_nontcga_EAS=0.6602;ExAC_nontcga_FIN=0.7857;ExAC_nontcga_NFE=0.7357;ExAC_nontcga_OTH=0.7202;ExAC_nontcga_SAS=0.6798;AF=0.5931;AF_popmax=0.7400;AF_male=0.5876;AF_female=0.5999;AF_raw=0.5928;AF_afr=0.2298;AF_sas=.;AF_amr=0.6828;AF_eas=0.6197;AF_nfe=0.7400;AF_fin=0.7745;AF_asj=0.6759;AF_oth=0.7069;non_topmed_AF_popmax=0.7456;non_neuro_AF_popmax=0.7413;non_cancer_AF_popmax=.;controls_AF_popmax=0.7630;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.549075;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|1 1|0 0|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 +12 2788925 rs113157354 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5431A:p.R1811R,CACNA1C:NM_001129838:exon41:c.C5431A:p.R1811R,CACNA1C:NM_001129839:exon41:c.C5425A:p.R1809R,CACNA1C:NM_001129846:exon41:c.C5374A:p.R1792R,CACNA1C:NM_001167625:exon41:c.C5374A:p.R1792R,CACNA1C:NM_000719:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129829:exon42:c.C5530A:p.R1844R,CACNA1C:NM_001129830:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129833:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129834:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129835:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129836:exon42:c.C5458A:p.R1820R,CACNA1C:NM_001129840:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129841:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129842:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129843:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129844:exon42:c.C5398A:p.R1800R,CACNA1C:NM_001167623:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001167624:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129831:exon43:c.C5491A:p.R1831R,CACNA1C:NM_001129832:exon43:c.C5467A:p.R1823R,CACNA1C:NM_001129827:exon44:c.C5551A:p.R1851R,CACNA1C:NM_199460:exon44:c.C5551A:p.R1851R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113157354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.777e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.595e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.646159;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2789787 rs12299577 A G 100 PASS AC=13;AF=0.189097;AN=214;NS=2504;DP=16860;EAS_AF=0.1617;AMR_AF=0.1859;AFR_AF=0.4365;EUR_AF=0.0517;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12299577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0338;ExAC_nontcga_ALL=0.0777;ExAC_nontcga_AFR=0.3585;ExAC_nontcga_AMR=0.175;ExAC_nontcga_EAS=0.1844;ExAC_nontcga_FIN=0.0550;ExAC_nontcga_NFE=0.0449;ExAC_nontcga_OTH=0.0431;ExAC_nontcga_SAS=0.0475;AF=0.1432;AF_popmax=0.3766;AF_male=0.1470;AF_female=0.1385;AF_raw=0.1445;AF_afr=0.3766;AF_sas=.;AF_amr=0.1733;AF_eas=0.1332;AF_nfe=0.0439;AF_fin=0.0302;AF_asj=0.0414;AF_oth=0.0763;non_topmed_AF_popmax=0.3765;non_neuro_AF_popmax=0.3800;non_cancer_AF_popmax=.;controls_AF_popmax=0.3786;Kaviar_AF=0.0354717;Kaviar_AC=5484;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2789789 rs12319450 C G 100 PASS AC=13;AF=0.189097;AN=214;NS=2504;DP=16872;EAS_AF=0.1617;AMR_AF=0.1859;AFR_AF=0.4365;EUR_AF=0.0517;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12319450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0340;ExAC_nontcga_ALL=0.0796;ExAC_nontcga_AFR=0.3616;ExAC_nontcga_AMR=0.1728;ExAC_nontcga_EAS=0.1835;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0466;ExAC_nontcga_OTH=0.0431;ExAC_nontcga_SAS=0.0484;AF=0.1433;AF_popmax=0.3766;AF_male=0.1470;AF_female=0.1386;AF_raw=0.1445;AF_afr=0.3766;AF_sas=.;AF_amr=0.1733;AF_eas=0.1332;AF_nfe=0.0439;AF_fin=0.0302;AF_asj=0.0414;AF_oth=0.0763;non_topmed_AF_popmax=0.3764;non_neuro_AF_popmax=0.3800;non_cancer_AF_popmax=.;controls_AF_popmax=0.3786;Kaviar_AF=0.0354394;Kaviar_AC=5479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2791130 rs10848683 C T 100 PASS AC=170;AF=0.669129;AN=214;NS=2504;DP=21231;EAS_AF=0.5744;AMR_AF=0.7248;AFR_AF=0.4622;EUR_AF=0.8191;SAS_AF=0.8528;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.C5459T:p.P1820L,CACNA1C:NM_001167624:exon43:c.C5459T:p.P1820L,CACNA1C:NM_199460:exon45:c.C5603T:p.P1868L;1000g2015aug_all=0.669129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10848683;CLNALLELEID=140341;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.243;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-3.54;FATHMM_converted_rankscore=0.951;FATHMM_pred=D;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.032;VEST3_rankscore=0.022;MetaSVM_score=-0.945;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.086;CADD_raw_rankscore=0.102;CADD_phred=3.459;DANN_score=0.538;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.002;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.121;Eigen-PC-raw=-1.211;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.323;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.64;GERP++_RS_rankscore=0.228;phyloP100way_vertebrate=-1.473;phyloP100way_vertebrate_rankscore=0.024;phyloP20way_mammalian=-0.566;phyloP20way_mammalian_rankscore=0.046;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.422;SiPhy_29way_logOdds_rankscore=0.041;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8213;ExAC_nontcga_ALL=0.7714;ExAC_nontcga_AFR=0.4837;ExAC_nontcga_AMR=0.7754;ExAC_nontcga_EAS=0.5925;ExAC_nontcga_FIN=0.8493;ExAC_nontcga_NFE=0.8096;ExAC_nontcga_OTH=0.8217;ExAC_nontcga_SAS=0.8421;AF=0.7182;AF_popmax=0.8197;AF_male=0.7143;AF_female=0.7230;AF_raw=0.7175;AF_afr=0.4868;AF_sas=.;AF_amr=0.7382;AF_eas=0.5885;AF_nfe=0.8197;AF_fin=0.8636;AF_asj=0.8310;AF_oth=0.8022;non_topmed_AF_popmax=0.8178;non_neuro_AF_popmax=0.8206;non_cancer_AF_popmax=.;controls_AF_popmax=0.8225;Kaviar_AF=0.726103;Kaviar_AC=112257;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.816671;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 +12 2791132 rs10774053 A G 100 PASS AC=174;AF=0.770567;AN=214;NS=2504;DP=21122;EAS_AF=0.6081;AMR_AF=0.7651;AFR_AF=0.7844;EUR_AF=0.83;SAS_AF=0.862;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5461G:p.M1821V,CACNA1C:NM_001167624:exon43:c.A5461G:p.M1821V,CACNA1C:NM_199460:exon45:c.A5605G:p.M1869V;1000g2015aug_all=0.770567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10774053;CLNALLELEID=140342;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.564;SIFT_converted_rankscore=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.755;MutationAssessor_score_rankscore=0.192;MutationAssessor_pred=N;FATHMM_score=-3.57;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.052;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.001;MetaSVM_score=-0.971;MetaSVM_rankscore=0.371;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.237;REVEL_rankscore=0.545;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.106;CADD_raw_rankscore=0.104;CADD_phred=3.674;DANN_score=0.403;DANN_rankscore=0.028;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.002;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.642;Eigen-PC-raw=-1.618;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.316;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=0.908;GERP++_RS_rankscore=0.184;phyloP100way_vertebrate=-0.521;phyloP100way_vertebrate_rankscore=0.063;phyloP20way_mammalian=-0.616;phyloP20way_mammalian_rankscore=0.043;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.480;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=ENSG00000227081.4;GTEx_V6p_tissue=Esophagus_Muscularis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8310;ExAC_nontcga_ALL=0.8060;ExAC_nontcga_AFR=0.7837;ExAC_nontcga_AMR=0.7937;ExAC_nontcga_EAS=0.6208;ExAC_nontcga_FIN=0.8511;ExAC_nontcga_NFE=0.8186;ExAC_nontcga_OTH=0.8478;ExAC_nontcga_SAS=0.8530;AF=0.8033;AF_popmax=0.8267;AF_male=0.8041;AF_female=0.8023;AF_raw=0.8029;AF_afr=0.7684;AF_sas=.;AF_amr=0.7783;AF_eas=0.6184;AF_nfe=0.8267;AF_fin=0.8648;AF_asj=0.8448;AF_oth=0.8256;non_topmed_AF_popmax=0.8244;non_neuro_AF_popmax=0.8273;non_cancer_AF_popmax=.;controls_AF_popmax=0.8276;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.793459;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 +12 2791205 rs10774054 A G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=21405;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10774054;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9999;ExAC_nontcga_AFR=0.9987;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9996;AF_popmax=1;AF_male=0.9997;AF_female=0.9994;AF_raw=0.9996;AF_afr=0.9984;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.807959;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 2791722 rs113239186 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129838:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129839:exon42:c.C5469T:p.H1823H,CACNA1C:NM_001129846:exon42:c.C5418T:p.H1806H,CACNA1C:NM_000719:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129829:exon43:c.C5574T:p.H1858H,CACNA1C:NM_001129833:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129834:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129835:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129836:exon43:c.C5502T:p.H1834H,CACNA1C:NM_001129840:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129841:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129842:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129843:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129844:exon43:c.C5442T:p.H1814H,CACNA1C:NM_001167623:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001167625:exon43:c.C5631T:p.H1877H,CACNA1C:NM_001129830:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129831:exon44:c.C5535T:p.H1845H,CACNA1C:NM_001129832:exon44:c.C5511T:p.H1837H,CACNA1C:NM_001167624:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129827:exon45:c.C5595T:p.H1865H,CACNA1C:NM_199460:exon46:c.C5700T:p.H1900H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113239186;CLNALLELEID=99321;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0006;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1928344|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.719640;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2794977 rs56270948 G A 100 PASS AC=4;AF=0.0359425;AN=214;NS=2504;DP=20996;EAS_AF=0.0446;AMR_AF=0.0317;AFR_AF=0.0575;EUR_AF=0.0249;SAS_AF=0.0123;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129838:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129839:exon43:c.G5667A:p.P1889P,CACNA1C:NM_001129846:exon43:c.G5616A:p.P1872P,CACNA1C:NM_000719:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129829:exon44:c.G5772A:p.P1924P,CACNA1C:NM_001129833:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129834:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129835:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129836:exon44:c.G5700A:p.P1900P,CACNA1C:NM_001129840:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129841:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129842:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129843:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129844:exon44:c.G5640A:p.P1880P,CACNA1C:NM_001167623:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001167625:exon44:c.G5829A:p.P1943P,CACNA1C:NM_001129830:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129831:exon45:c.G5733A:p.P1911P,CACNA1C:NM_001129832:exon45:c.G5709A:p.P1903P,CACNA1C:NM_001167624:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129827:exon46:c.G5793A:p.P1931P,CACNA1C:NM_199460:exon47:c.G5898A:p.P1966P;1000g2015aug_all=0.0359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56270948;CLNALLELEID=99323;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0563;ExAC_nontcga_AMR=0.0104;ExAC_nontcga_EAS=0.0401;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0211;ExAC_nontcga_SAS=0.0072;AF=0.0180;AF_popmax=0.0394;AF_male=0.0179;AF_female=0.0182;AF_raw=0.0207;AF_afr=0.0094;AF_sas=.;AF_amr=0.0119;AF_eas=0.0394;AF_nfe=0.0202;AF_fin=0.0214;AF_asj=0.0315;AF_oth=0.0132;non_topmed_AF_popmax=0.0390;non_neuro_AF_popmax=0.0394;non_cancer_AF_popmax=.;controls_AF_popmax=0.0385;Kaviar_AF=0.0253748;Kaviar_AC=3923;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578635;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2795023 rs114036394 C T 100 PASS AC=1;AF=0.0159744;AN=214;NS=2504;DP=24249;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0582;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114036394;CLNALLELEID=44433;CLNDN=Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0595;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.813e-05;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0002;AF=0.0154;AF_popmax=0.0546;AF_male=0.0153;AF_female=0.0154;AF_raw=0.0155;AF_afr=0.0546;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0550;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.0045213;Kaviar_AC=699;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.196180;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2795255 rs2270373 C T 100 PASS AC=199;AF=0.770767;AN=214;NS=2504;DP=19682;EAS_AF=0.8363;AMR_AF=0.7997;AFR_AF=0.4251;EUR_AF=0.9473;SAS_AF=0.9683;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.770767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270373;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8153;AF_popmax=0.9554;AF_male=0.8111;AF_female=0.8205;AF_raw=0.8146;AF_afr=0.4791;AF_sas=.;AF_amr=0.8243;AF_eas=0.8631;AF_nfe=0.9554;AF_fin=0.9697;AF_asj=0.9621;AF_oth=0.9114;non_topmed_AF_popmax=0.9570;non_neuro_AF_popmax=0.9563;non_cancer_AF_popmax=.;controls_AF_popmax=0.9628;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.652066;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 +12 2797824 rs532551057 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14207;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon45:c.C6020T:p.T2007I,CACNA1C:NM_001129838:exon45:c.C6020T:p.T2007I,CACNA1C:NM_001129839:exon45:c.C6014T:p.T2005I,CACNA1C:NM_001129846:exon45:c.C5963T:p.T1988I,CACNA1C:NM_000719:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129829:exon46:c.C6119T:p.T2040I,CACNA1C:NM_001129833:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129834:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129835:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129836:exon46:c.C6047T:p.T2016I,CACNA1C:NM_001129840:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129841:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129842:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129843:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129844:exon46:c.C5987T:p.T1996I,CACNA1C:NM_001167623:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001167625:exon46:c.C6176T:p.T2059I,CACNA1C:NM_001129830:exon47:c.C6101T:p.T2034I,CACNA1C:NM_001129831:exon47:c.C6080T:p.T2027I,CACNA1C:NM_001129832:exon47:c.C6056T:p.T2019I,CACNA1C:NM_001167624:exon47:c.C6101T:p.T2034I,CACNA1C:NM_001129827:exon48:c.C6140T:p.T2047I,CACNA1C:NM_199460:exon49:c.C6245T:p.T2082I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532551057;CLNALLELEID=241543;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.08;SIFT_converted_rankscore=0.351;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.308;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.347;Polyphen2_HVAR_pred=B;LRT_score=0.573;LRT_converted_rankscore=0.112;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.128;VEST3_rankscore=0.198;MetaSVM_score=-0.988;MetaSVM_rankscore=0.332;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_rankscore=0.399;MetaLR_pred=T;M-CAP_score=0.100;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.065;REVEL_rankscore=0.193;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.108;CADD_raw_rankscore=0.104;CADD_phred=3.690;DANN_score=0.973;DANN_rankscore=0.326;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.081;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.927;Eigen-PC-raw=-0.933;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.17;GERP++_RS_rankscore=0.266;phyloP100way_vertebrate=0.348;phyloP100way_vertebrate_rankscore=0.196;phyloP20way_mammalian=-0.034;phyloP20way_mammalian_rankscore=0.126;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=14.291;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.868e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.644e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.124e-05;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.042e-05;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.294279;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2798006 rs567697833 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567697833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0009;AF_raw=0.0007;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0013831;Kaviar_AC=36;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5153694 rs45504599 C T 100 PASS AC=5;AF=0.0147764;AN=214;NS=2504;DP=15255;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0038;EUR_AF=0.0398;SAS_AF=0.0102;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C381T:p.S127S;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45504599;CLNALLELEID=325381;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.0252;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0123;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0288;ExAC_nontcga_NFE=0.0376;ExAC_nontcga_OTH=0.0253;ExAC_nontcga_SAS=0.0128;AF=0.0272;AF_popmax=0.0416;AF_male=0.0274;AF_female=0.0268;AF_raw=0.0272;AF_afr=0.0079;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0416;AF_fin=0.0268;AF_asj=0.0139;AF_oth=0.0285;non_topmed_AF_popmax=0.0401;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0391;Kaviar_AF=0.0275029;Kaviar_AC=4252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.913473;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5153820 rs147984046 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14336;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G507T:p.R169R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147984046;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.478e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.855e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932107;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154064 rs12720442 G A 100 PASS AC=2;AF=0.0081869;AN=214;NS=2504;DP=15304;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G751A:p.A251T;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12720442;CLNALLELEID=189351;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.081;SIFT_converted_rankscore=0.334;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.343;LRT_pred=U;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.276;MutationTaster_pred=N;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.082;VEST3_rankscore=0.075;MetaSVM_score=-0.902;MetaSVM_rankscore=0.478;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_rankscore=0.383;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.589;CADD_raw_rankscore=0.253;CADD_phred=13.79;DANN_score=0.986;DANN_rankscore=0.432;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.552;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.011;Eigen-PC-raw=0.154;GenoCanyon_score=0.885;GenoCanyon_score_rankscore=0.257;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=4.670;phyloP100way_vertebrate_rankscore=0.610;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=0.906;phastCons100way_vertebrate_rankscore=0.313;phastCons20way_mammalian=0.481;phastCons20way_mammalian_rankscore=0.268;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0487;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0080;AF=0.0124;AF_popmax=0.0366;AF_male=0.0121;AF_female=0.0127;AF_raw=0.0125;AF_afr=0.0032;AF_sas=.;AF_amr=0.0366;AF_eas=0;AF_nfe=0.0181;AF_fin=0.0112;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0370;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0233;Kaviar_AF=0.0127036;Kaviar_AC=1964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914867;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154232 rs17215409 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13247;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C919T:p.P307S;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215409;CLNALLELEID=189353;CLNDN=Atrial_fibrillation,_familial,_7|altered_potassium_channel_function;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN231063;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.454;SIFT_converted_rankscore=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.007;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-4.32;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=0.02;PROVEAN_converted_rankscore=0.068;PROVEAN_pred=N;VEST3_score=0.101;VEST3_rankscore=0.104;MetaSVM_score=0.154;MetaSVM_rankscore=0.851;MetaSVM_pred=D;MetaLR_score=0.569;MetaLR_rankscore=0.844;MetaLR_pred=D;M-CAP_score=0.156;M-CAP_rankscore=0.838;M-CAP_pred=D;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.109;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.615;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_rankscore=0.178;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.403;Eigen-PC-raw=-1.349;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-0.862;GERP++_RS_rankscore=0.101;phyloP100way_vertebrate=0.293;phyloP100way_vertebrate_rankscore=0.186;phyloP20way_mammalian=-0.441;phyloP20way_mammalian_rankscore=0.057;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=2.667;SiPhy_29way_logOdds_rankscore=0.047;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0023;AF_popmax=0.0035;AF_male=0.0023;AF_female=0.0022;AF_raw=0.0023;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.823197;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154242 rs17215402 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=13529;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C929T:p.P310L;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215402;CLNALLELEID=189354;CLNDN=Atrial_fibrillation,_familial,_7|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.092;SIFT_converted_rankscore=0.316;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=0.969;MutationTaster_converted_rankscore=0.387;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-4.39;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.202;VEST3_rankscore=0.248;MetaSVM_score=-0.521;MetaSVM_rankscore=0.679;MetaSVM_pred=T;MetaLR_score=0.809;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.324;REVEL_rankscore=0.650;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.204;CADD_raw_rankscore=0.210;CADD_phred=11.77;DANN_score=0.990;DANN_rankscore=0.505;fathmm-MKL_coding_score=0.373;fathmm-MKL_coding_rankscore=0.255;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.494;Eigen-PC-raw=-0.421;GenoCanyon_score=0.553;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=1.166;phyloP100way_vertebrate_rankscore=0.312;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=0.0038;AF_popmax=0.0118;AF_male=0.0041;AF_female=0.0035;AF_raw=0.0038;AF_afr=0.0013;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0028;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0039974;Kaviar_AC=618;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836173;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154277 rs139614200 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14666;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G964T:p.D322Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139614200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.600;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.914;Polyphen2_HVAR_rankscore=0.632;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.735;MutationAssessor_score_rankscore=0.802;MutationAssessor_pred=M;FATHMM_score=-4.38;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=-8.03;PROVEAN_converted_rankscore=0.966;PROVEAN_pred=D;VEST3_score=0.972;VEST3_rankscore=0.973;MetaSVM_score=1.100;MetaSVM_rankscore=0.997;MetaSVM_pred=D;MetaLR_score=0.954;MetaLR_rankscore=0.985;MetaLR_pred=D;M-CAP_score=0.387;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.909;REVEL_rankscore=0.976;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.771;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.995;DANN_rankscore=0.670;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.897;Eigen-PC-raw=0.812;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=9.932;phyloP100way_vertebrate_rankscore=0.988;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.212;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.46e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.853e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.899245;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154462 rs2359641 T C 100 PASS AC=214;AF=0.98103;AN=214;NS=2504;DP=17723;EAS_AF=0.996;AMR_AF=0.9885;AFR_AF=0.9372;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.T1149C:p.G383G;1000g2015aug_all=0.98103;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2359641;CLNALLELEID=254607;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9953;ExAC_nontcga_AFR=0.9529;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=0.9945;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9999;AF=0.9853;AF_popmax=0.9999;AF_male=0.9862;AF_female=0.9841;AF_raw=0.9852;AF_afr=0.9488;AF_sas=.;AF_amr=0.9906;AF_eas=0.9962;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9982;non_topmed_AF_popmax=0.9999;non_neuro_AF_popmax=0.9999;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.867730;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 5155046 rs12720445 G A 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=18223;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G1733A:p.R578K;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12720445;CLNALLELEID=189357;CLNDN=Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C4551804,OMIM:601144|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.034;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.028;LRT_converted_rankscore=0.257;LRT_pred=U;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.222;MutationTaster_pred=N;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=-4.37;FATHMM_converted_rankscore=0.973;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.052;PROVEAN_pred=N;VEST3_score=0.2;VEST3_rankscore=0.245;MetaSVM_score=-0.173;MetaSVM_rankscore=0.784;MetaSVM_pred=T;MetaLR_score=0.720;MetaLR_rankscore=0.904;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.232;REVEL_rankscore=0.538;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.664;CADD_raw_rankscore=0.157;CADD_phred=8.590;DANN_score=0.966;DANN_rankscore=0.298;fathmm-MKL_coding_score=0.600;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.223;GenoCanyon_score=0.199;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=1.772;phyloP100way_vertebrate_rankscore=0.380;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=0.908;phastCons100way_vertebrate_rankscore=0.314;phastCons20way_mammalian=0.383;phastCons20way_mammalian_rankscore=0.251;SiPhy_29way_logOdds=8.84;SiPhy_29way_logOdds_rankscore=0.341;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0006;AF=0.0050;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0053;AF_raw=0.0050;AF_afr=0.0022;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0084;AF_fin=0.0009;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.856854;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5155130 rs199616466 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19904;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.A1817G:p.D606G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199616466;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_rankscore=0.639;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_converted_rankscore=0.332;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.625;MutationAssessor_score_rankscore=0.771;MutationAssessor_pred=M;FATHMM_score=-4.88;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.461;VEST3_rankscore=0.513;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.188;M-CAP_rankscore=0.860;M-CAP_pred=D;REVEL_score=0.665;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.406;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.998;DANN_rankscore=0.895;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.993;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.744;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.583;integrated_fitCons_score_rankscore=0.331;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=8.699;phyloP100way_vertebrate_rankscore=0.910;phyloP20way_mammalian=1.112;phyloP20way_mammalian_rankscore=0.879;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=14.970;SiPhy_29way_logOdds_rankscore=0.707;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.656e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.895e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918375;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21918616 rs199513950 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21764;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=KCNJ8;GeneDetail.refGene=NM_004982:c.*41C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199513950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=0.0001;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21918667 rs72554071 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21926614 rs556304562 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17630;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=KCNJ8;GeneDetail.refGene=NM_004982:c.-64G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556304562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000049646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1575939|N/A|FOXA1|PAZAR,OREG1634675|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21960458 rs149006200 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18655;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149006200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.457e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 21962721 rs149533136 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16734;EAS_AF=0;AMR_AF=0;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149533136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0033;AF_male=0.0008;AF_female=0.0013;AF_raw=0.0010;AF_afr=0.0033;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21965173 rs34690897 CTTAG C 100 PASS AC=4;AF=0.00638978;AN=214;NS=2504;DP=20157;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0092;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34690897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0118;AF_male=0.0061;AF_female=0.0054;AF_raw=0.0058;AF_afr=0.0024;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0065;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21971087 rs150303433 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=13081;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon30:c.T3768C:p.L1256L,ABCC9:NM_020297:exon30:c.T3768C:p.L1256L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150303433;CLNALLELEID=44298;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0020;AF_popmax=0.0035;AF_male=0.0022;AF_female=0.0017;AF_raw=0.0020;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019017;Kaviar_AC=294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.237309;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21981916 rs188944145 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21991197 rs61926066 T C 100 PASS AC=4;AF=0.0115815;AN=214;NS=2504;DP=18993;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0151;EUR_AF=0.0249;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61926066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0262;AF_popmax=0.0345;AF_male=0.0255;AF_female=0.0270;AF_raw=0.0262;AF_afr=0.0170;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0345;AF_fin=0.0273;AF_asj=0.0345;AF_oth=0.0230;non_topmed_AF_popmax=0.0325;non_neuro_AF_popmax=0.0340;non_cancer_AF_popmax=.;controls_AF_popmax=0.0268;Kaviar_AF=0.0057761;Kaviar_AC=893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21995253 rs201572736 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21997678 rs187876084 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18156;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187876084;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21997874 rs11836934 C T 100 PASS AC=5;AF=0.0501198;AN=214;NS=2504;DP=18622;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1566;EUR_AF=0.0258;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0501198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11836934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0420;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.1380;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0287;ExAC_nontcga_NFE=0.0366;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0093;AF=0.0591;AF_popmax=0.1337;AF_male=0.0599;AF_female=0.0582;AF_raw=0.0592;AF_afr=0.1337;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0347;AF_fin=0.0273;AF_asj=0.0345;AF_oth=0.0340;non_topmed_AF_popmax=0.1333;non_neuro_AF_popmax=0.1330;non_cancer_AF_popmax=.;controls_AF_popmax=0.1248;Kaviar_AF=0.0356528;Kaviar_AC=5512;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21998493 rs142498007 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=15320;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0076;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142498007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0051;ExAC_nontcga_SAS=6.898e-05;AF=0.0023;AF_popmax=0.0073;AF_male=0.0026;AF_female=0.0019;AF_raw=0.0023;AF_afr=0.0073;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0.0207;AF_oth=0.0009;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0101;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22001255 rs543809166 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543809166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22001272 rs117635387 C T 100 PASS AC=5;AF=0.0117812;AN=214;NS=2504;DP=19828;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.0038;EUR_AF=0.0288;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117635387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0122;AF_popmax=0.0224;AF_male=0.0112;AF_female=0.0134;AF_raw=0.0123;AF_afr=0.0046;AF_sas=.;AF_amr=0.0224;AF_eas=0.0006;AF_nfe=0.0158;AF_fin=0.0118;AF_asj=0.0586;AF_oth=0.0193;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0253;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22005003 rs2307024 T G 100 PASS AC=84;AF=0.334665;AN=214;NS=2504;DP=16099;EAS_AF=0.2649;AMR_AF=0.3271;AFR_AF=0.2322;EUR_AF=0.3867;SAS_AF=0.4969;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.334665;GWAS=rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758;ORegAnno_REGULATORY_P=rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758;avsnp150=rs2307024;CLNALLELEID=254488;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4124;ExAC_nontcga_ALL=0.3869;ExAC_nontcga_AFR=0.2481;ExAC_nontcga_AMR=0.3127;ExAC_nontcga_EAS=0.2790;ExAC_nontcga_FIN=0.3843;ExAC_nontcga_NFE=0.4102;ExAC_nontcga_OTH=0.4493;ExAC_nontcga_SAS=0.4871;AF=0.3516;AF_popmax=0.4031;AF_male=0.3488;AF_female=0.3551;AF_raw=0.3520;AF_afr=0.2559;AF_sas=.;AF_amr=0.3408;AF_eas=0.2763;AF_nfe=0.4031;AF_fin=0.3847;AF_asj=0.4545;AF_oth=0.3704;non_topmed_AF_popmax=0.4003;non_neuro_AF_popmax=0.4010;non_cancer_AF_popmax=.;controls_AF_popmax=0.3766;Kaviar_AF=0.382576;Kaviar_AC=59147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|0 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|0 0|0 1|0 1|0 1|0 1|1 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 0|1 0|1 +12 22005167 rs61926078 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17264;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61926078;CLNALLELEID=44296;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0130;ExAC_nontcga_NFE=0.0090;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0020;AF=0.0097;AF_popmax=0.0139;AF_male=0.0092;AF_female=0.0103;AF_raw=0.0097;AF_afr=0.0023;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0127;AF_asj=0.0069;AF_oth=0.0184;non_topmed_AF_popmax=0.0155;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0223;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879803;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22005258 rs117514003 G T 100 PASS AC=13;AF=0.0171725;AN=214;NS=2504;DP=16671;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.0076;EUR_AF=0.0447;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117514003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0512;ExAC_nontcga_ALL=0.0329;ExAC_nontcga_AFR=0.0124;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0209;ExAC_nontcga_NFE=0.0512;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0124;AF=0.0310;AF_popmax=0.0456;AF_male=0.0310;AF_female=0.0310;AF_raw=0.0310;AF_afr=0.0140;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0456;AF_fin=0.0196;AF_asj=0.0552;AF_oth=0.0294;non_topmed_AF_popmax=0.0436;non_neuro_AF_popmax=0.0454;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0345144;Kaviar_AC=5336;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 +12 22005510 rs704183 A G 100 PASS AC=214;AF=0.994609;AN=214;NS=2504;DP=15024;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9803;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.994609;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9954;AF_popmax=1;AF_male=0.9952;AF_female=0.9957;AF_raw=0.9954;AF_afr=0.9838;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22015858 rs199782480 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16690;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199782480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.011e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.008e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22016004 rs201144903;rs564004542;rs4148670 GA AA,GAA,G 100 PASS AC=2,4,71;AF=0.014377,0.0131789,0.360423;AN=214;NS=2504;DP=15488;EAS_AF=0.0079,0.0149,0.3938;AMR_AF=0.0115,0.0187,0.4121;AFR_AF=0.028,0.0151,0.3684;EUR_AF=0.005,0.0089,0.3101;SAS_AF=0.0143,0.0092,0.3303;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201144903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0037;AF_popmax=0.0033;AF_male=0.0037;AF_female=0.0037;AF_raw=0.0070;AF_afr=0.0027;AF_sas=.;AF_amr=0.0015;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0150;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0079;Kaviar_AF=0.0004657;Kaviar_AC=72;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148670;CLNALLELEID=330167;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4269;ExAC_nontcga_AFR=0.4564;ExAC_nontcga_AMR=0.5150;ExAC_nontcga_EAS=0.4756;ExAC_nontcga_FIN=0.3876;ExAC_nontcga_NFE=0.4118;ExAC_nontcga_OTH=0.3882;ExAC_nontcga_SAS=0.3929;AF=0.3458;AF_popmax=0.4566;AF_male=0.3444;AF_female=0.3476;AF_raw=0.3059;AF_afr=0.3584;AF_sas=.;AF_amr=0.4566;AF_eas=0.3911;AF_nfe=0.3192;AF_fin=0.3963;AF_asj=0.3268;AF_oth=0.3728;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4535;non_cancer_AF_popmax=.;controls_AF_popmax=0.5125;Kaviar_AF=0.0193076;Kaviar_AC=2985;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 3|0 0|0 0|0 0|3 3|3 0|0 0|0 0|0 0|3 3|3 0|3 0|3 0|0 3|0 0|0 3|3 0|0 0|0 0|0 3|3 3|3 3|0 3|0 0|3 3|0 3|0 3|0 0|0 0|0 0|0 0|0 0|0 0|0 3|0 3|3 0|0 0|3 0|1 2|0 0|0 3|0 0|3 0|2 0|0 0|0 0|0 0|0 0|0 0|0 3|0 0|0 0|3 0|0 0|0 3|3 0|3 0|1 0|3 0|3 0|0 0|0 0|0 0|0 0|0 0|0 3|3 0|3 3|3 0|3 3|3 3|3 0|0 0|3 3|0 0|0 0|3 0|0 3|3 3|0 0|2 0|3 3|3 3|0 0|3 0|3 3|3 0|2 0|3 0|3 0|0 0|0 0|0 0|3 0|3 3|0 0|0 0|3 3|0 0|0 0|3 0|0 3|0 3|3 3|0 0|0 0|0 0|0 +12 22017278 rs568078730 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16929;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568078730;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.997264;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017398 rs202054255 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon17:c.G2212A:p.E738K,ABCC9:NM_020297:exon17:c.G2212A:p.E738K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.136;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_rankscore=0.262;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.099;Polyphen2_HVAR_rankscore=0.290;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.291;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=0.29;MutationAssessor_score_rankscore=0.101;MutationAssessor_pred=N;FATHMM_score=-2.69;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-0.97;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.585;VEST3_rankscore=0.618;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.602;MetaLR_rankscore=0.858;MetaLR_pred=D;M-CAP_score=0.081;M-CAP_rankscore=0.737;M-CAP_pred=D;REVEL_score=0.440;REVEL_rankscore=0.747;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.625;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.995;DANN_rankscore=0.698;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.629;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.233;GenoCanyon_score=0.539;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.97;GERP++_RS_rankscore=0.653;phyloP100way_vertebrate=5.519;phyloP100way_vertebrate_rankscore=0.666;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.028;SiPhy_29way_logOdds_rankscore=0.891;Interpro_domain=AAA+_ATPase_domain|ABC_transporter-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.698e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.052726;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017410 rs61688134 C T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=18330;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon17:c.G2200A:p.V734I,ABCC9:NM_020297:exon17:c.G2200A:p.V734I;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61688134;CLNALLELEID=44292;CLNDN=Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.31;SIFT_converted_rankscore=0.140;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.019;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=-3.27;FATHMM_converted_rankscore=0.936;FATHMM_pred=D;PROVEAN_score=-0.1;PROVEAN_converted_rankscore=0.088;PROVEAN_pred=N;VEST3_score=0.459;VEST3_rankscore=0.511;MetaSVM_score=-0.808;MetaSVM_rankscore=0.547;MetaSVM_pred=T;MetaLR_score=0.642;MetaLR_rankscore=0.875;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.287;REVEL_rankscore=0.610;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.389;CADD_raw_rankscore=0.348;CADD_phred=18.75;DANN_score=0.986;DANN_rankscore=0.433;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_rankscore=0.392;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.150;Eigen-PC-raw=0.053;GenoCanyon_score=0.539;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.97;GERP++_RS_rankscore=0.653;phyloP100way_vertebrate=2.925;phyloP100way_vertebrate_rankscore=0.483;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.028;SiPhy_29way_logOdds_rankscore=0.891;Interpro_domain=AAA+_ATPase_domain|ABC_transporter-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0344;dbscSNV_RF_SCORE=0.194;esp6500siv2_ea=0.0132;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0084;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0001;AF=0.0058;AF_popmax=0.0089;AF_male=0.0062;AF_female=0.0052;AF_raw=0.0058;AF_afr=0.0022;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0077942;Kaviar_AC=1205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.147069;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017422 rs697250 A G 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=18450;EAS_AF=1;AMR_AF=1;AFR_AF=0.9932;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs697250;CLNALLELEID=54569;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7220;dbscSNV_RF_SCORE=0.39;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9942;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9987;AF_popmax=1;AF_male=0.9987;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9953;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941288;Kaviar_AC=145525;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030706;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22017428 rs191677545 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18459;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191677545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.698e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030706;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017486 rs697251 C G 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=18218;EAS_AF=1;AMR_AF=1;AFR_AF=0.9932;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs697251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9987;AF_popmax=1;AF_male=0.9987;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9953;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22025671 rs185235724 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14307;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185235724;CLNALLELEID=54566;CLNDN=Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0006;AF=0.0026;AF_popmax=0.0045;AF_male=0.0029;AF_female=0.0023;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0028072;Kaviar_AC=434;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035615 rs4148663 A T 100 PASS AC=3;AF=0.0391374;AN=214;NS=2504;DP=17368;EAS_AF=0.1181;AMR_AF=0.0749;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148663;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0200;AF_popmax=0.1350;AF_male=0.0195;AF_female=0.0205;AF_raw=0.0200;AF_afr=0.0036;AF_sas=.;AF_amr=0.0507;AF_eas=0.1350;AF_nfe=0.0156;AF_fin=0.0239;AF_asj=0.0069;AF_oth=0.0156;non_topmed_AF_popmax=0.1344;non_neuro_AF_popmax=0.1350;non_cancer_AF_popmax=.;controls_AF_popmax=0.1338;Kaviar_AF=0.0044372;Kaviar_AC=686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035847 rs199512953 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199512953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.844e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.038e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.7e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.388e-05;AF_popmax=0.0012;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035873 rs1356368 C T 100 PASS AC=150;AF=0.534744;AN=214;NS=2504;DP=16086;EAS_AF=0.5169;AMR_AF=0.6859;AFR_AF=0.1982;EUR_AF=0.7386;SAS_AF=0.6912;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.534744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1356368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6337;AF_popmax=0.7825;AF_male=0.6230;AF_female=0.6472;AF_raw=0.6331;AF_afr=0.2877;AF_sas=.;AF_amr=0.6998;AF_eas=0.5136;AF_nfe=0.7825;AF_fin=0.8370;AF_asj=0.7345;AF_oth=0.7394;non_topmed_AF_popmax=0.7855;non_neuro_AF_popmax=0.7819;non_cancer_AF_popmax=.;controls_AF_popmax=0.7953;Kaviar_AF=0.135432;Kaviar_AC=20938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|0 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|0 0|1 0|1 1|1 0|1 +12 22035883 rs1283802 T G 100 PASS AC=53;AF=0.421925;AN=214;NS=2504;DP=16111;EAS_AF=0.4812;AMR_AF=0.2795;AFR_AF=0.6959;EUR_AF=0.2266;SAS_AF=0.2924;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.421925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1283802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3258;AF_popmax=0.6097;AF_male=0.3348;AF_female=0.3145;AF_raw=0.3260;AF_afr=0.6097;AF_sas=.;AF_amr=0.2742;AF_eas=0.4846;AF_nfe=0.2004;AF_fin=0.1525;AF_asj=0.2172;AF_oth=0.2311;non_topmed_AF_popmax=0.6091;non_neuro_AF_popmax=0.6038;non_cancer_AF_popmax=.;controls_AF_popmax=0.6099;Kaviar_AF=0.0519528;Kaviar_AC=8032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 1|0 +12 22040784 rs150036969 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19907;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.G1887T:p.E629D,ABCC9:NM_020297:exon13:c.G1887T:p.E629D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150036969;CLNALLELEID=54559;CLNDN=Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.466;SIFT_converted_rankscore=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.291;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-3.04;FATHMM_converted_rankscore=0.924;FATHMM_pred=D;PROVEAN_score=-0.79;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.661;VEST3_rankscore=0.673;MetaSVM_score=-0.410;MetaSVM_rankscore=0.717;MetaSVM_pred=T;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.532;REVEL_rankscore=0.806;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.197;CADD_raw_rankscore=0.325;CADD_phred=17.49;DANN_score=0.986;DANN_rankscore=0.431;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.500;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.425;Eigen-PC-raw=-0.263;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.24;GERP++_RS_rankscore=0.361;phyloP100way_vertebrate=0.136;phyloP100way_vertebrate_rankscore=0.157;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.091;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.309743;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 22040854 rs149229372 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.A1817C:p.N606T,ABCC9:NM_020297:exon13:c.A1817C:p.N606T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149229372;CLNALLELEID=399359;CLNDN=Dilated_cardiomyopathy_1O;CLNDISDB=MedGen:C1837839,OMIM:608569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.19;SIFT_converted_rankscore=0.403;SIFT_pred=T;Polyphen2_HDIV_score=0.036;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=0.933;MutationTaster_converted_rankscore=0.370;MutationTaster_pred=D;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=-3.45;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.336;PROVEAN_pred=N;VEST3_score=0.107;VEST3_rankscore=0.230;MetaSVM_score=-0.013;MetaSVM_rankscore=0.820;MetaSVM_pred=T;MetaLR_score=0.615;MetaLR_rankscore=0.864;MetaLR_pred=D;M-CAP_score=0.088;M-CAP_rankscore=0.752;M-CAP_pred=D;REVEL_score=0.233;REVEL_rankscore=0.540;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.400;CADD_raw_rankscore=0.350;CADD_phred=18.82;DANN_score=0.989;DANN_rankscore=0.486;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.582;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.269;Eigen-PC-raw=-0.086;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.041;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.503;phyloP100way_vertebrate_rankscore=0.529;phyloP20way_mammalian=1.042;phyloP20way_mammalian_rankscore=0.661;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.264;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=ABC_transporter_type_1,_transmembrane_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.889e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.478e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.478e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.339e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.208202;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22047151 rs704216 G T 100 PASS AC=214;AF=0.997804;AN=214;NS=2504;DP=18653;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704216;CLNALLELEID=254490;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9945;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9987;AF_popmax=1;AF_male=0.9989;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9954;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934878;Kaviar_AC=144534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22047174 rs704217 C T 100 PASS AC=166;AF=0.686302;AN=214;NS=2504;DP=19098;EAS_AF=0.8264;AMR_AF=0.621;AFR_AF=0.5847;EUR_AF=0.7227;SAS_AF=0.6881;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.686302;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6610;AF_popmax=0.8273;AF_male=0.6567;AF_female=0.6664;AF_raw=0.6607;AF_afr=0.5791;AF_sas=.;AF_amr=0.6149;AF_eas=0.8273;AF_nfe=0.6842;AF_fin=0.6845;AF_asj=0.8138;AF_oth=0.6691;non_topmed_AF_popmax=0.8289;non_neuro_AF_popmax=0.8273;non_cancer_AF_popmax=.;controls_AF_popmax=0.8275;Kaviar_AF=0.131344;Kaviar_AC=20306;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|1 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +12 22059121 rs143346402 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=20034;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon10:c.G1557A:p.E519E,ABCC9:NM_020297:exon10:c.G1557A:p.E519E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143346402;CLNALLELEID=54555;CLNDN=Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.066e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.183e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1633617|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.613253;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22059244 rs556218427 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18060;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556218427;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.732e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.902e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.635949;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22063115 rs10770865 A G 100 PASS AC=214;AF=0.997204;AN=214;NS=2504;DP=15446;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9902;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;1000g2015aug_all=0.997204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10770865;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9989;ExAC_nontcga_AFR=0.9893;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9973;AF_popmax=1;AF_male=0.9976;AF_female=0.9970;AF_raw=0.9972;AF_afr=0.9904;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000965892|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.146457;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063251 rs35857705 CA C 100 PASS AC=72;AF=0.375799;AN=214;NS=2504;DP=14138;EAS_AF=0.3681;AMR_AF=0.3919;AFR_AF=0.3669;EUR_AF=0.3887;SAS_AF=0.3712;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.375799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35857705;CLNALLELEID=44291;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4411;ExAC_nontcga_AFR=0.4092;ExAC_nontcga_AMR=0.4605;ExAC_nontcga_EAS=0.3975;ExAC_nontcga_FIN=0.4598;ExAC_nontcga_NFE=0.4487;ExAC_nontcga_OTH=0.4110;ExAC_nontcga_SAS=0.4287;AF=0.4217;AF_popmax=0.5125;AF_male=0.4198;AF_female=0.4241;AF_raw=0.3245;AF_afr=0.3635;AF_sas=.;AF_amr=0.5125;AF_eas=0.2546;AF_nfe=0.4676;AF_fin=0.4554;AF_asj=0.3444;AF_oth=0.4408;non_topmed_AF_popmax=0.5106;non_neuro_AF_popmax=0.5096;non_cancer_AF_popmax=.;controls_AF_popmax=0.4559;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|1 0|1 1|0 0|0 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 +12 22063737 rs4762719 G T 100 PASS AC=214;AF=0.991613;AN=214;NS=2504;DP=14627;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9697;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.991613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4762719;CLNALLELEID=254491;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9969;ExAC_nontcga_AFR=0.9677;ExAC_nontcga_AMR=0.9975;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=1;AF=0.9913;AF_popmax=1;AF_male=0.9912;AF_female=0.9914;AF_raw=0.9913;AF_afr=0.9694;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063749 rs4762720 T C 100 PASS AC=214;AF=0.991613;AN=214;NS=2504;DP=14617;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9697;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.991613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4762720;CLNALLELEID=54551;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9969;ExAC_nontcga_AFR=0.9678;ExAC_nontcga_AMR=0.9975;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=1;AF=0.9913;AF_popmax=1;AF_male=0.9912;AF_female=0.9914;AF_raw=0.9913;AF_afr=0.9694;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063971 rs4148654 A G 100 PASS AC=154;AF=0.667332;AN=214;NS=2504;DP=14359;EAS_AF=0.8046;AMR_AF=0.572;AFR_AF=0.6127;EUR_AF=0.6571;SAS_AF=0.6779;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.667332;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6108;AF_popmax=0.8135;AF_male=0.6101;AF_female=0.6116;AF_raw=0.6104;AF_afr=0.5980;AF_sas=.;AF_amr=0.5738;AF_eas=0.8135;AF_nfe=0.6022;AF_fin=0.5912;AF_asj=0.7724;AF_oth=0.5909;non_topmed_AF_popmax=0.8160;non_neuro_AF_popmax=0.8135;non_cancer_AF_popmax=.;controls_AF_popmax=0.8177;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 +12 22068591 rs200986421 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9211;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200986421;CLNALLELEID=54588;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.197308;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22068849 rs3759236 G T 100 PASS AC=148;AF=0.644768;AN=214;NS=2504;DP=15228;EAS_AF=0.8026;AMR_AF=0.549;AFR_AF=0.5893;EUR_AF=0.6402;SAS_AF=0.6299;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.644768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3759236;CLNALLELEID=54586;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.5925;ExAC_nontcga_ALL=0.6129;ExAC_nontcga_AFR=0.5893;ExAC_nontcga_AMR=0.5382;ExAC_nontcga_EAS=0.7861;ExAC_nontcga_FIN=0.5943;ExAC_nontcga_NFE=0.6004;ExAC_nontcga_OTH=0.6429;ExAC_nontcga_SAS=0.6400;AF=0.5982;AF_popmax=0.8114;AF_male=0.5976;AF_female=0.5990;AF_raw=0.5975;AF_afr=0.5790;AF_sas=.;AF_amr=0.5603;AF_eas=0.8114;AF_nfe=0.5918;AF_fin=0.5852;AF_asj=0.7431;AF_oth=0.5712;non_topmed_AF_popmax=0.8139;non_neuro_AF_popmax=0.8114;non_cancer_AF_popmax=.;controls_AF_popmax=0.8154;Kaviar_AF=0.600891;Kaviar_AC=92899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.653107;ALLELE_END GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 0|1 1|0 1|1 1|1 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 +12 22078838 rs2277405 T G 100 PASS AC=155;AF=0.701677;AN=214;NS=2504;DP=17928;EAS_AF=0.8056;AMR_AF=0.5793;AFR_AF=0.736;EUR_AF=0.659;SAS_AF=0.6789;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.701677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277405;CLNALLELEID=254492;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6074;ExAC_nontcga_ALL=0.6410;ExAC_nontcga_AFR=0.7116;ExAC_nontcga_AMR=0.5542;ExAC_nontcga_EAS=0.7895;ExAC_nontcga_FIN=0.6017;ExAC_nontcga_NFE=0.6145;ExAC_nontcga_OTH=0.6696;ExAC_nontcga_SAS=0.6931;AF=0.6407;AF_popmax=0.8127;AF_male=0.6418;AF_female=0.6392;AF_raw=0.6399;AF_afr=0.7016;AF_sas=.;AF_amr=0.5782;AF_eas=0.8127;AF_nfe=0.6030;AF_fin=0.5936;AF_asj=0.7724;AF_oth=0.6032;non_topmed_AF_popmax=0.8153;non_neuro_AF_popmax=0.8127;non_cancer_AF_popmax=.;controls_AF_popmax=0.8158;Kaviar_AF=0.628918;Kaviar_AC=97232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 +12 22089425 rs182534835 A G 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19172;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182534835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0103;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=6.964e-05;AF=0.0058;AF_popmax=0.0078;AF_male=0.0049;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0078;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0073;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 25362777 rs1137282 A G 100 PASS AC=46;AF=0.175519;AN=214;NS=2504;DP=18305;EAS_AF=0.0923;AMR_AF=0.1931;AFR_AF=0.18;EUR_AF=0.2187;SAS_AF=0.1984;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_004985:exon5:c.T519C:p.D173D;1000g2015aug_all=0.175519;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1137282;CLNALLELEID=49887;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2160;ExAC_nontcga_ALL=0.1951;ExAC_nontcga_AFR=0.1865;ExAC_nontcga_AMR=0.1695;ExAC_nontcga_EAS=0.0977;ExAC_nontcga_FIN=0.1591;ExAC_nontcga_NFE=0.2221;ExAC_nontcga_OTH=0.1553;ExAC_nontcga_SAS=0.1911;AF=0.1888;AF_popmax=0.2146;AF_male=0.1869;AF_female=0.1911;AF_raw=0.1890;AF_afr=0.1734;AF_sas=.;AF_amr=0.2146;AF_eas=0.0873;AF_nfe=0.2130;AF_fin=0.1606;AF_asj=0.1966;AF_oth=0.1829;non_topmed_AF_popmax=0.2173;non_neuro_AF_popmax=0.2202;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.194758;Kaviar_AC=30110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.450857;ALLELE_END GT 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|0 +12 25362854 rs12313763 C T 100 PASS AC=1;AF=0.0836661;AN=214;NS=2504;DP=17844;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.2897;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0836661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12313763;CLNALLELEID=48934;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0009;dbscSNV_RF_SCORE=0.062;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0277;ExAC_nontcga_AFR=0.2649;ExAC_nontcga_AMR=0.0209;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0378;ExAC_nontcga_SAS=0.0014;AF=0.0790;AF_popmax=0.2704;AF_male=0.0823;AF_female=0.0748;AF_raw=0.0790;AF_afr=0.2704;AF_sas=.;AF_amr=0.0436;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0.0414;AF_oth=0.0211;non_topmed_AF_popmax=0.2703;non_neuro_AF_popmax=0.2641;non_cancer_AF_popmax=.;controls_AF_popmax=0.2672;Kaviar_AF=0.0269013;Kaviar_AC=4159;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.923621;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 25368462 rs4362222 C T 100 PASS AC=214;AF=0.997604;AN=214;NS=2504;DP=16952;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_033360:exon5:c.G483A:p.R161R;1000g2015aug_all=0.997604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4362222;CLNALLELEID=55703;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9945;ExAC_nontcga_AMR=0.9997;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9985;AF_popmax=1;AF_male=0.9985;AF_female=0.9985;AF_raw=0.9985;AF_afr=0.9947;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.936689;Kaviar_AC=144814;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.523630;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 25398162 rs199716819 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19935;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199716819;CLNALLELEID=254495;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0026;AF=0.0012;AF_popmax=0.0019;AF_male=0.0014;AF_female=0.0010;AF_raw=0.0012;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0020;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040179;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32945486 rs113493546 G T 100 PASS AC=6;AF=0.0339457;AN=214;NS=2504;DP=20761;EAS_AF=0.0069;AMR_AF=0.0159;AFR_AF=0.0688;EUR_AF=0.0348;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113493546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0391;AF_popmax=0.0622;AF_male=0.0378;AF_female=0.0406;AF_raw=0.0391;AF_afr=0.0622;AF_sas=.;AF_amr=0.0224;AF_eas=0.0077;AF_nfe=0.0243;AF_fin=0.0627;AF_asj=0.0759;AF_oth=0.0359;non_topmed_AF_popmax=0.0625;non_neuro_AF_popmax=0.0657;non_cancer_AF_popmax=.;controls_AF_popmax=0.0673;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639552;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113493546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0391;AF_popmax=0.0622;AF_male=0.0378;AF_female=0.0406;AF_raw=0.0391;AF_afr=0.0622;AF_sas=.;AF_amr=0.0224;AF_eas=0.0077;AF_nfe=0.0243;AF_fin=0.0627;AF_asj=0.0759;AF_oth=0.0359;non_topmed_AF_popmax=0.0625;non_neuro_AF_popmax=0.0657;non_cancer_AF_popmax=.;controls_AF_popmax=0.0673;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639552;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +12 32945495 rs7956824 C T 100 PASS AC=143;AF=0.450479;AN=214;NS=2504;DP=20629;EAS_AF=0.1865;AMR_AF=0.4827;AFR_AF=0.5658;EUR_AF=0.6779;SAS_AF=0.3098;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.450479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7956824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6090;AF_popmax=0.6576;AF_male=0.6000;AF_female=0.6203;AF_raw=0.6080;AF_afr=0.5595;AF_sas=.;AF_amr=0.4846;AF_eas=0.2266;AF_nfe=0.6576;AF_fin=0.7187;AF_asj=0.5793;AF_oth=0.6112;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6584;non_cancer_AF_popmax=.;controls_AF_popmax=0.6607;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.122638;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.450479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7956824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6090;AF_popmax=0.6576;AF_male=0.6000;AF_female=0.6203;AF_raw=0.6080;AF_afr=0.5595;AF_sas=.;AF_amr=0.4846;AF_eas=0.2266;AF_nfe=0.6576;AF_fin=0.7187;AF_asj=0.5793;AF_oth=0.6112;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6584;non_cancer_AF_popmax=.;controls_AF_popmax=0.6607;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.122638;ALLELE_END GT 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|0 0|1 +12 32945721 rs6488091 G T 100 PASS AC=143;AF=0.45028;AN=214;NS=2504;DP=17677;EAS_AF=0.1865;AMR_AF=0.4827;AFR_AF=0.5658;EUR_AF=0.6779;SAS_AF=0.3088;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.45028;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6488091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6760;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6097;AF_popmax=0.6579;AF_male=0.6006;AF_female=0.6210;AF_raw=0.6090;AF_afr=0.5623;AF_sas=.;AF_amr=0.4894;AF_eas=0.2234;AF_nfe=0.6579;AF_fin=0.7185;AF_asj=0.5799;AF_oth=0.6123;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6589;non_cancer_AF_popmax=.;controls_AF_popmax=0.6612;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.798832;ALLELE_END GT 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|0 0|1 +12 32949029 rs149968852 A AG 100 PASS AC=23;AF=0.318291;AN=214;NS=2504;DP=19550;EAS_AF=0.5774;AMR_AF=0.2046;AFR_AF=0.2995;EUR_AF=0.1402;SAS_AF=0.3405;AA=G|-|G|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.318291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149968852;CLNALLELEID=54237;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1393;ExAC_nontcga_ALL=0.2157;ExAC_nontcga_AFR=0.2854;ExAC_nontcga_AMR=0.1568;ExAC_nontcga_EAS=0.5443;ExAC_nontcga_FIN=0.1839;ExAC_nontcga_NFE=0.1402;ExAC_nontcga_OTH=0.2003;ExAC_nontcga_SAS=0.3236;AF=0.2022;AF_popmax=0.5540;AF_male=0.2068;AF_female=0.1964;AF_raw=0.2025;AF_afr=0.2714;AF_sas=.;AF_amr=0.1663;AF_eas=0.5540;AF_nfe=0.1390;AF_fin=0.1665;AF_asj=0.1701;AF_oth=0.1976;non_topmed_AF_popmax=0.5519;non_neuro_AF_popmax=0.5540;non_cancer_AF_popmax=.;controls_AF_popmax=0.5535;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.767636;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 +12 32949101 rs139734328 G T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=19509;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon11:c.C2299A:p.R767S,PKP2:NM_004572:exon12:c.C2431A:p.R811S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139734328;CLNALLELEID=54235;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.267;Polyphen2_HDIV_rankscore=0.338;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_rankscore=0.360;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.344;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.499;MutationTaster_pred=D;MutationAssessor_score=2.98;MutationAssessor_score_rankscore=0.858;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_converted_rankscore=0.494;FATHMM_pred=T;PROVEAN_score=-3.22;PROVEAN_converted_rankscore=0.649;PROVEAN_pred=D;VEST3_score=0.768;VEST3_rankscore=0.837;MetaSVM_score=-0.636;MetaSVM_rankscore=0.634;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_rankscore=0.558;MetaLR_pred=T;M-CAP_score=0.099;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.211;CADD_raw_rankscore=0.946;CADD_phred=34;DANN_score=0.995;DANN_rankscore=0.697;fathmm-MKL_coding_score=0.816;fathmm-MKL_coding_rankscore=0.407;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.305;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.428;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.06;GERP++_RS_rankscore=0.677;phyloP100way_vertebrate=3.692;phyloP100way_vertebrate_rankscore=0.542;phyloP20way_mammalian=1.044;phyloP20way_mammalian_rankscore=0.665;phastCons100way_vertebrate=0.919;phastCons100way_vertebrate_rankscore=0.317;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=17.583;SiPhy_29way_logOdds_rankscore=0.878;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0104;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.868951;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32949252 rs57690055 AC A 100 PASS AC=23;AF=0.304912;AN=214;NS=2504;DP=18159;EAS_AF=0.5734;AMR_AF=0.196;AFR_AF=0.295;EUR_AF=0.1312;SAS_AF=0.2975;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57690055;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1207;ExAC_nontcga_ALL=0.1644;ExAC_nontcga_AFR=0.2221;ExAC_nontcga_AMR=0.1277;ExAC_nontcga_EAS=0.3910;ExAC_nontcga_FIN=0.1512;ExAC_nontcga_NFE=0.1114;ExAC_nontcga_OTH=0.1471;ExAC_nontcga_SAS=0.2423;AF=0.1765;AF_popmax=0.5336;AF_male=0.1821;AF_female=0.1693;AF_raw=0.1857;AF_afr=0.2462;AF_sas=.;AF_amr=0.1318;AF_eas=0.5336;AF_nfe=0.1195;AF_fin=0.1146;AF_asj=0.1469;AF_oth=0.1501;non_topmed_AF_popmax=0.5316;non_neuro_AF_popmax=0.5336;non_cancer_AF_popmax=.;controls_AF_popmax=0.5298;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.915329;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 +12 32974245 rs10772008 C T 100 PASS AC=177;AF=0.591653;AN=214;NS=2504;DP=20105;EAS_AF=0.3244;AMR_AF=0.5764;AFR_AF=0.652;EUR_AF=0.8091;SAS_AF=0.5726;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.591653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10772008;CLNALLELEID=254502;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8183;ExAC_nontcga_ALL=0.7041;ExAC_nontcga_AFR=0.6589;ExAC_nontcga_AMR=0.5068;ExAC_nontcga_EAS=0.3574;ExAC_nontcga_FIN=0.8121;ExAC_nontcga_NFE=0.8161;ExAC_nontcga_OTH=0.7442;ExAC_nontcga_SAS=0.6090;AF=0.7406;AF_popmax=0.8152;AF_male=0.7350;AF_female=0.7477;AF_raw=0.7402;AF_afr=0.6610;AF_sas=.;AF_amr=0.5912;AF_eas=0.3521;AF_nfe=0.8152;AF_fin=0.8134;AF_asj=0.7724;AF_oth=0.7482;non_topmed_AF_popmax=0.8117;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8083;Kaviar_AF=0.702416;Kaviar_AC=108595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.032486;ALLELE_END GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 +12 32974352 rs199583774 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16726;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon9:c.C1951T:p.R651C,PKP2:NM_004572:exon10:c.C2083T:p.R695C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199583774;CLNALLELEID=54223;CLNDN=Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_converted_rankscore=0.387;LRT_pred=N;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.434;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.753;FATHMM_pred=T;PROVEAN_score=-5.0;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=D;VEST3_score=0.727;VEST3_rankscore=0.770;MetaSVM_score=0.032;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.506;MetaLR_rankscore=0.814;MetaLR_pred=D;M-CAP_score=0.336;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.588;REVEL_rankscore=0.837;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.044;CADD_raw_rankscore=0.939;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.386;fathmm-MKL_coding_rankscore=0.258;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.381;Eigen-PC-raw=0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.419;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.81;GERP++_RS_rankscore=0.318;phyloP100way_vertebrate=1.439;phyloP100way_vertebrate_rankscore=0.344;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.386;phastCons100way_vertebrate_rankscore=0.258;phastCons20way_mammalian=0.962;phastCons20way_mammalian_rankscore=0.444;SiPhy_29way_logOdds=11.102;SiPhy_29way_logOdds_rankscore=0.472;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=9.556e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909625;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32974523 rs73090746 C T 100 PASS AC=2;AF=0.00399361;AN=214;NS=2504;DP=18030;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73090746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0073;AF_popmax=0.0110;AF_male=0.0077;AF_female=0.0068;AF_raw=0.0073;AF_afr=0.0021;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0069;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019469;Kaviar_AC=301;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438194;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32977103 rs200009796 G GA 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=22610;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=AAAAAA|AAAAAA|AAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200009796;CLNALLELEID=54207;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0112;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0047;AF_popmax=0.0054;AF_male=0.0047;AF_female=0.0047;AF_raw=0.0046;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0137;AF_asj=0.0175;AF_oth=0.0066;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0053;non_cancer_AF_popmax=.;controls_AF_popmax=0.0050;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.227632;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32994144 rs189036647 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18273;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189036647;CLNALLELEID=373007;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0059;dbscSNV_RF_SCORE=0.038;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739357;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32994180 rs186175440 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186175440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.465e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.547518;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33003918 rs183414126 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19799;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183414126;CLNALLELEID=54181;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.038;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0041;AF=0.0023;AF_popmax=0.0039;AF_male=0.0023;AF_female=0.0023;AF_raw=0.0023;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0006;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000454896|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.129710;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33021934 rs1046116 A G 100 PASS AC=37;AF=0.151358;AN=214;NS=2504;DP=17069;EAS_AF=0.0308;AMR_AF=0.1614;AFR_AF=0.2103;EUR_AF=0.2157;SAS_AF=0.1227;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;1000g2015aug_all=0.151358;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1046116;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_converted_rankscore=0.180;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.79;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_converted_rankscore=0.478;FATHMM_pred=T;PROVEAN_score=0.72;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.029;MetaSVM_rankscore=0.209;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.127;REVEL_rankscore=0.354;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.112;CADD_raw_rankscore=0.104;CADD_phred=3.732;DANN_score=0.241;DANN_rankscore=0.011;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.029;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.186;Eigen-PC-raw=-1.049;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.108;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.19;GERP++_RS_rankscore=0.485;phyloP100way_vertebrate=1.970;phyloP100way_vertebrate_rankscore=0.399;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.130;phastCons100way_vertebrate_rankscore=0.231;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.800;SiPhy_29way_logOdds_rankscore=0.126;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2301;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.1988;ExAC_nontcga_AMR=0.1173;ExAC_nontcga_EAS=0.0302;ExAC_nontcga_FIN=0.1921;ExAC_nontcga_NFE=0.2072;ExAC_nontcga_OTH=0.2104;ExAC_nontcga_SAS=0.1630;AF=0.1977;AF_popmax=0.2195;AF_male=0.1961;AF_female=0.1998;AF_raw=0.1980;AF_afr=0.1974;AF_sas=.;AF_amr=0.1616;AF_eas=0.0295;AF_nfe=0.2195;AF_fin=0.1818;AF_asj=0.2;AF_oth=0.2109;non_topmed_AF_popmax=0.2189;non_neuro_AF_popmax=0.2172;non_cancer_AF_popmax=.;controls_AF_popmax=0.2082;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.695445;ALLELE_END GT 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33030802 rs139851304 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20147;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A1012G:p.T338A,PKP2:NM_004572:exon3:c.A1012G:p.T338A;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139851304;CLNALLELEID=54170;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.444;SIFT_converted_rankscore=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-0.38;PROVEAN_converted_rankscore=0.134;PROVEAN_pred=N;VEST3_score=0.018;VEST3_rankscore=0.020;MetaSVM_score=-0.823;MetaSVM_rankscore=0.538;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_rankscore=0.691;MetaLR_pred=T;M-CAP_score=0.083;M-CAP_rankscore=0.742;M-CAP_pred=D;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.051;CADD_raw_rankscore=0.030;CADD_phred=0.012;DANN_score=0.873;DANN_rankscore=0.166;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.319;Eigen-PC-raw=-1.424;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-8.09;GERP++_RS_rankscore=0.010;phyloP100way_vertebrate=-2.041;phyloP100way_vertebrate_rankscore=0.015;phyloP20way_mammalian=-0.700;phyloP20way_mammalian_rankscore=0.038;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=8.742;SiPhy_29way_logOdds_rankscore=0.335;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0010;AF=0.0009;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0005;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0517;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000454924|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.908348;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33031309 rs139139859 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19061;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A505G:p.S169G,PKP2:NM_004572:exon3:c.A505G:p.S169G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139139859;CLNALLELEID=54248;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.297;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_converted_rankscore=0.019;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.6;MutationAssessor_score_rankscore=0.156;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_converted_rankscore=0.807;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.422;VEST3_rankscore=0.693;MetaSVM_score=-0.874;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_rankscore=0.618;MetaLR_pred=T;M-CAP_score=0.037;M-CAP_rankscore=0.572;M-CAP_pred=D;REVEL_score=0.521;REVEL_rankscore=0.799;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.338;CADD_raw_rankscore=0.127;CADD_phred=6.055;DANN_score=0.937;DANN_rankscore=0.231;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.037;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.236;Eigen-PC-raw=-1.199;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-1.54;GERP++_RS_rankscore=0.081;phyloP100way_vertebrate=-0.040;phyloP100way_vertebrate_rankscore=0.120;phyloP20way_mammalian=-0.592;phyloP20way_mammalian_rankscore=0.044;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.026;phastCons20way_mammalian_rankscore=0.142;SiPhy_29way_logOdds=8.679;SiPhy_29way_logOdds_rankscore=0.332;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0024;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000279|hsa-miR-222-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865158;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +12 33031799 rs190636501 A G 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=17941;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190636501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0050;AF_popmax=0.0072;AF_male=0.0050;AF_female=0.0050;AF_raw=0.0050;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0058;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0009767;Kaviar_AC=151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.016007;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33049590 rs143004808 C T 100 PASS AC=2;AF=0.00299521;AN=214;NS=2504;DP=8671;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G76A:p.D26N,PKP2:NM_004572:exon1:c.G76A:p.D26N;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143004808;CLNALLELEID=54251;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.874;Polyphen2_HVAR_rankscore=0.603;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_converted_rankscore=0.346;LRT_pred=N;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-1.74;FATHMM_converted_rankscore=0.834;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.022;MetaSVM_score=0.033;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.451;MetaLR_rankscore=0.785;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.430;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.871;CADD_raw_rankscore=0.930;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.940;fathmm-MKL_coding_score=0.750;fathmm-MKL_coding_rankscore=0.364;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.389;Eigen-PC-raw=0.388;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=1.682;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=0.822;phyloP20way_mammalian_rankscore=0.336;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.410;SiPhy_29way_logOdds_rankscore=0.745;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0146;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0048;ExAC_nontcga_SAS=0.0047;AF=0.0058;AF_popmax=0.0106;AF_male=0.0064;AF_female=0.0050;AF_raw=0.0058;AF_afr=0.0017;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0026;AF_asj=0.0517;AF_oth=0.0083;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000050745|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1177020|N/A|TFAP2C|PAZAR,OREG1497724|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.954482;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98909876 rs139576816 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7910;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMPO:NM_001032283:exon1:c.C231T:p.L77L,TMPO:NM_001032284:exon1:c.C231T:p.L77L,TMPO:NM_001307975:exon1:c.C231T:p.L77L,TMPO:NM_003276:exon1:c.C231T:p.L77L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139576816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.287e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.381e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000056128|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251609|N/A|SMARCA4|PAZAR,OREG1169900|N/A|TFAP2C|PAZAR,OREG1490154|N/A|EGR1|PAZAR,OREG1221463|N/A|SMARCA4|PAZAR,OREG1792011|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.774619;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98925650 rs3213901 G T 100 PASS AC=110;AF=0.530351;AN=214;NS=2504;DP=17490;EAS_AF=0.3601;AMR_AF=0.4481;AFR_AF=0.6339;EUR_AF=0.5527;SAS_AF=0.6012;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.530351;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3213901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5688;ExAC_nontcga_ALL=0.5389;ExAC_nontcga_AFR=0.6417;ExAC_nontcga_AMR=0.4026;ExAC_nontcga_EAS=0.3706;ExAC_nontcga_FIN=0.5824;ExAC_nontcga_NFE=0.5553;ExAC_nontcga_OTH=0.5380;ExAC_nontcga_SAS=0.5853;AF=0.5743;AF_popmax=0.6401;AF_male=0.5736;AF_female=0.5751;AF_raw=0.5738;AF_afr=0.6401;AF_sas=.;AF_amr=0.4314;AF_eas=0.3659;AF_nfe=0.5641;AF_fin=0.5919;AF_asj=0.4966;AF_oth=0.5627;non_topmed_AF_popmax=0.6399;non_neuro_AF_popmax=0.6389;non_cancer_AF_popmax=.;controls_AF_popmax=0.6373;Kaviar_AF=0.526552;Kaviar_AC=81406;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 0|1 0|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 0|1 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 0|0 1|1 1|0 +12 98926985 rs35969221 C G 100 PASS AC=1;AF=0.0299521;AN=214;NS=2504;DP=18745;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1051;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C950G:p.T317S;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35969221;CLNALLELEID=45538;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674574,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.322;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=-1.087;MetaSVM_rankscore=0.060;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.088;REVEL_rankscore=0.260;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.863;CADD_raw_rankscore=0.521;CADD_phred=23.5;DANN_score=0.974;DANN_rankscore=0.334;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_rankscore=0.540;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.076;Eigen-PC-raw=0.147;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=3.531;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.309;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.1095;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0002;AF=0.0320;AF_popmax=0.1113;AF_male=0.0323;AF_female=0.0317;AF_raw=0.0321;AF_afr=0.1113;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.1101;non_neuro_AF_popmax=0.1125;non_cancer_AF_popmax=.;controls_AF_popmax=0.1088;Kaviar_AF=0.010168;Kaviar_AC=1572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251610|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.262299;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927147 rs199943517 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18621;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1112G:p.P371R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199943517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.443;LRT_pred=D;MutationTaster_score=0.978;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=0.92;FATHMM_converted_rankscore=0.445;FATHMM_pred=T;PROVEAN_score=0.73;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.815;VEST3_rankscore=0.803;MetaSVM_score=-0.830;MetaSVM_rankscore=0.534;MetaSVM_pred=T;MetaLR_score=0.166;MetaLR_rankscore=0.504;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.508;M-CAP_pred=D;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.570;CADD_raw_rankscore=0.758;CADD_phred=26.4;DANN_score=0.998;DANN_rankscore=0.892;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_rankscore=0.425;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.578;Eigen-PC-raw=0.609;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.43;GERP++_RS_rankscore=0.789;phyloP100way_vertebrate=3.531;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.110;SiPhy_29way_logOdds_rankscore=0.719;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.422e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.367424;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927278 rs200367787 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19394;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.T1243G:p.S415A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200367787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_rankscore=0.227;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=0.725;LRT_converted_rankscore=0.099;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=1.42;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.191;PROVEAN_pred=N;VEST3_score=0.259;VEST3_rankscore=0.315;MetaSVM_score=-1.016;MetaSVM_rankscore=0.250;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.213;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.171;M-CAP_pred=T;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.194;CADD_raw_rankscore=0.112;CADD_phred=4.612;DANN_score=0.990;DANN_rankscore=0.500;fathmm-MKL_coding_score=0.158;fathmm-MKL_coding_rankscore=0.189;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.605;Eigen-PC-raw=-0.561;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.344;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.13;GERP++_RS_rankscore=0.349;phyloP100way_vertebrate=1.302;phyloP100way_vertebrate_rankscore=0.328;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.177;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.097;phastCons20way_mammalian_rankscore=0.188;SiPhy_29way_logOdds=4.871;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=5.655e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.209e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.925601;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927830 rs17459334 C G 100 PASS AC=29;AF=0.0589058;AN=214;NS=2504;DP=22302;EAS_AF=0.001;AMR_AF=0.0403;AFR_AF=0.003;EUR_AF=0.1093;SAS_AF=0.1554;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1795G:p.Q599E;1000g2015aug_all=0.0589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17459334;CLNALLELEID=53834;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.1;SIFT_converted_rankscore=0.305;SIFT_pred=T;Polyphen2_HDIV_score=0.919;Polyphen2_HDIV_rankscore=0.489;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_rankscore=0.443;Polyphen2_HVAR_pred=P;LRT_score=0.054;LRT_converted_rankscore=0.228;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-0.13;PROVEAN_converted_rankscore=0.090;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.267;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.146;REVEL_rankscore=0.393;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.914;CADD_raw_rankscore=0.291;CADD_phred=15.67;DANN_score=0.983;DANN_rankscore=0.397;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.410;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.470;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=2.191;phyloP100way_vertebrate_rankscore=0.420;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.922;SiPhy_29way_logOdds_rankscore=0.793;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227825.3|ENSG00000227825.3|ENSG00000120802.9;GTEx_V6p_tissue=Heart_Atrial_Appendage|Heart_Left_Ventricle|Pancreas;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0965;ExAC_nontcga_ALL=0.0875;ExAC_nontcga_AFR=0.0169;ExAC_nontcga_AMR=0.0400;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1034;ExAC_nontcga_NFE=0.0983;ExAC_nontcga_OTH=0.1006;ExAC_nontcga_SAS=0.1595;AF=0.0687;AF_popmax=0.0945;AF_male=0.0649;AF_female=0.0733;AF_raw=0.0687;AF_afr=0.0190;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.0945;AF_fin=0.1053;AF_asj=0.0833;AF_oth=0.0910;non_topmed_AF_popmax=0.0936;non_neuro_AF_popmax=0.0917;non_cancer_AF_popmax=.;controls_AF_popmax=0.0876;Kaviar_AF=0.0845397;Kaviar_AC=13070;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0890151::0.668379;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0900735::0.61514;ENSEMBLReg=Name\x3dENSR00000972255|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1734232|N/A|HNF4A|PAZAR,OREG1709425|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.334910;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 +12 98938894 rs572058041 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15068;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572058041;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=7.183e-05;AF_male=0.0002;AF_female=8.427e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=7.183e-05;AF_fin=0;AF_asj=0.0106;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=8.213e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98938907 rs577612551;rs577612551;rs577612551;rs60129149 G T 100 PASS AC=99;AF=0.444089;AN=214;NS=2504;DP=17030;EAS_AF=0.4554;AMR_AF=0.451;AFR_AF=0.41;EUR_AF=0.4483;SAS_AF=0.4693;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.444089;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60129149;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0227;AF_popmax=0.0452;AF_male=0.0244;AF_female=0.0205;AF_raw=0.0188;AF_afr=0.0452;AF_sas=.;AF_amr=0.0066;AF_eas=0.001;AF_nfe=0.0115;AF_fin=0.0253;AF_asj=0.0060;AF_oth=0.0154;non_topmed_AF_popmax=0.0450;non_neuro_AF_popmax=0.0494;non_cancer_AF_popmax=.;controls_AF_popmax=0.0525;Kaviar_AF=0.0879822;Kaviar_AC=2290;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|1 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|0 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|0 +12 98938911 rs201498123 T TG 100 PASS AC=4;AF=0.0425319;AN=214;NS=2504;DP=17121;EAS_AF=0.0069;AMR_AF=0.0461;AFR_AF=0.1195;EUR_AF=0.0139;SAS_AF=0.002;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201498123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0507;AF_popmax=0.1402;AF_male=0.0511;AF_female=0.0501;AF_raw=0.0483;AF_afr=0.1402;AF_sas=.;AF_amr=0.0268;AF_eas=0.0077;AF_nfe=0.0142;AF_fin=0.0016;AF_asj=0.0615;AF_oth=0.0316;non_topmed_AF_popmax=0.1408;non_neuro_AF_popmax=0.1367;non_cancer_AF_popmax=.;controls_AF_popmax=0.1427;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98940228 rs34449077 A AT 100 PASS AC=23;AF=0.086262;AN=214;NS=2504;DP=18561;EAS_AF=0.2212;AMR_AF=0.0461;AFR_AF=0.003;EUR_AF=0.0944;SAS_AF=0.0798;AA=TT|TT|TTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.086262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34449077;CLNALLELEID=52860;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0840;ExAC_nontcga_ALL=0.0823;ExAC_nontcga_AFR=0.0131;ExAC_nontcga_AMR=0.0322;ExAC_nontcga_EAS=0.2491;ExAC_nontcga_FIN=0.1346;ExAC_nontcga_NFE=0.0731;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0840;AF=0.0779;AF_popmax=0.2455;AF_male=0.0789;AF_female=0.0767;AF_raw=0.0780;AF_afr=0.0147;AF_sas=.;AF_amr=0.0342;AF_eas=0.2455;AF_nfe=0.0844;AF_fin=0.1355;AF_asj=0.0690;AF_oth=0.1031;non_topmed_AF_popmax=0.2451;non_neuro_AF_popmax=0.2455;non_cancer_AF_popmax=.;controls_AF_popmax=0.2413;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.262833;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +12 98940250 rs376673871 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18668;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376673871;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98940289 rs139377405 T A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17906;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139377405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0039;AF_male=0.0026;AF_female=0.0024;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0.0414;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0007115;Kaviar_AC=110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98941637 rs1058300 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111350807 rs61940351 G A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=17590;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61940351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0145;AF_popmax=0.0175;AF_male=0.0137;AF_female=0.0156;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0423;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0182;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0208;Kaviar_AF=0.0023868;Kaviar_AC=369;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111350999 rs2233260 G A,T 100 PASS AC=46,3;AF=0.14996,0.00439297;AN=214;NS=2504;DP=19195;EAS_AF=0.002,0;AMR_AF=0.3444,0.0058;AFR_AF=0.1286,0;EUR_AF=0.2515,0.0139;SAS_AF=0.089,0.0041;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1601;ExAC_nontcga_AMR=0.3363;ExAC_nontcga_EAS=0.0028;ExAC_nontcga_FIN=0.2741;ExAC_nontcga_NFE=0.2247;ExAC_nontcga_OTH=0.2399;ExAC_nontcga_SAS=0.1244;AF=0.2094;AF_popmax=0.2884;AF_male=0.2047;AF_female=0.2154;AF_raw=0.2091;AF_afr=0.1619;AF_sas=.;AF_amr=0.2884;AF_eas=0.0045;AF_nfe=0.2365;AF_fin=0.2717;AF_asj=0.1345;AF_oth=0.2518;non_topmed_AF_popmax=0.2946;non_neuro_AF_popmax=0.2645;non_cancer_AF_popmax=.;controls_AF_popmax=0.2350;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0065;AF=0.0147;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0158;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0109701;Kaviar_AC=1696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1601;ExAC_nontcga_AMR=0.3363;ExAC_nontcga_EAS=0.0028;ExAC_nontcga_FIN=0.2741;ExAC_nontcga_NFE=0.2247;ExAC_nontcga_OTH=0.2399;ExAC_nontcga_SAS=0.1244;AF=0.2094;AF_popmax=0.2884;AF_male=0.2047;AF_female=0.2154;AF_raw=0.2091;AF_afr=0.1619;AF_sas=.;AF_amr=0.2884;AF_eas=0.0045;AF_nfe=0.2365;AF_fin=0.2717;AF_asj=0.1345;AF_oth=0.2518;non_topmed_AF_popmax=0.2946;non_neuro_AF_popmax=0.2645;non_cancer_AF_popmax=.;controls_AF_popmax=0.2350;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0065;AF=0.0147;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0158;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0109701;Kaviar_AC=1696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 2|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 2|2 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +12 111351002 rs369884745 CA C 100 PASS AC=1;AF=0.0449281;AN=214;NS=2504;DP=19458;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1626;EUR_AF=0.001;SAS_AF=0;AA=?|A|-|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369884745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1211;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0337;AF_popmax=0.1182;AF_male=0.0342;AF_female=0.0332;AF_raw=0.0331;AF_afr=0.1182;AF_sas=.;AF_amr=0.0096;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0075;non_topmed_AF_popmax=0.1188;non_neuro_AF_popmax=0.1157;non_cancer_AF_popmax=.;controls_AF_popmax=0.1152;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369884745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1211;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0337;AF_popmax=0.1182;AF_male=0.0342;AF_female=0.0332;AF_raw=0.0331;AF_afr=0.1182;AF_sas=.;AF_amr=0.0096;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0075;non_topmed_AF_popmax=0.1188;non_neuro_AF_popmax=0.1157;non_cancer_AF_popmax=.;controls_AF_popmax=0.1152;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351003 rs142220381 A AG 100 PASS AC=11;AF=0.10024;AN=214;NS=2504;DP=19077;EAS_AF=0.1954;AMR_AF=0.0259;AFR_AF=0.0507;EUR_AF=0.0746;SAS_AF=0.1483;AA=?|GGGGG|GGGGGG|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142220381;CLNALLELEID=40435;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0664;ExAC_nontcga_ALL=0.0894;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0272;ExAC_nontcga_EAS=0.2235;ExAC_nontcga_FIN=0.0732;ExAC_nontcga_NFE=0.0710;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1371;AF=0.0776;AF_popmax=0.2445;AF_male=0.0797;AF_female=0.0750;AF_raw=0.0770;AF_afr=0.0682;AF_sas=.;AF_amr=0.0422;AF_eas=0.2445;AF_nfe=0.0725;AF_fin=0.0631;AF_asj=0.0517;AF_oth=0.0631;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0071668;Kaviar_AC=1108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142220381;CLNALLELEID=40435;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0664;ExAC_nontcga_ALL=0.0894;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0272;ExAC_nontcga_EAS=0.2235;ExAC_nontcga_FIN=0.0732;ExAC_nontcga_NFE=0.0710;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1371;AF=0.0776;AF_popmax=0.2445;AF_male=0.0797;AF_female=0.0750;AF_raw=0.0770;AF_afr=0.0682;AF_sas=.;AF_amr=0.0422;AF_eas=0.2445;AF_nfe=0.0725;AF_fin=0.0631;AF_asj=0.0517;AF_oth=0.0631;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0071668;Kaviar_AC=1108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351029 rs3833910 TC T 100 PASS AC=57;AF=0.252596;AN=214;NS=2504;DP=21351;EAS_AF=0.2044;AMR_AF=0.3703;AFR_AF=0.18;EUR_AF=0.326;SAS_AF=0.2413;AA=CCCC|CCCCC|CCCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833910;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3138;ExAC_nontcga_ALL=0.2889;ExAC_nontcga_AFR=0.2220;ExAC_nontcga_AMR=0.3626;ExAC_nontcga_EAS=0.2301;ExAC_nontcga_FIN=0.3468;ExAC_nontcga_NFE=0.2951;ExAC_nontcga_OTH=0.3136;ExAC_nontcga_SAS=0.2590;AF=0.2850;AF_popmax=0.3278;AF_male=0.2826;AF_female=0.2880;AF_raw=0.2855;AF_afr=0.2271;AF_sas=.;AF_amr=0.3278;AF_eas=0.2487;AF_nfe=0.3080;AF_fin=0.3335;AF_asj=0.1840;AF_oth=0.3137;non_topmed_AF_popmax=0.3308;non_neuro_AF_popmax=0.3157;non_cancer_AF_popmax=.;controls_AF_popmax=0.3032;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955156;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833910;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3138;ExAC_nontcga_ALL=0.2889;ExAC_nontcga_AFR=0.2220;ExAC_nontcga_AMR=0.3626;ExAC_nontcga_EAS=0.2301;ExAC_nontcga_FIN=0.3468;ExAC_nontcga_NFE=0.2951;ExAC_nontcga_OTH=0.3136;ExAC_nontcga_SAS=0.2590;AF=0.2850;AF_popmax=0.3278;AF_male=0.2826;AF_female=0.2880;AF_raw=0.2855;AF_afr=0.2271;AF_sas=.;AF_amr=0.3278;AF_eas=0.2487;AF_nfe=0.3080;AF_fin=0.3335;AF_asj=0.1840;AF_oth=0.3137;non_topmed_AF_popmax=0.3308;non_neuro_AF_popmax=0.3157;non_cancer_AF_popmax=.;controls_AF_popmax=0.3032;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955156;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 +12 111351186 rs2071629 C T 100 PASS AC=11;AF=0.102636;AN=214;NS=2504;DP=19242;EAS_AF=0.2024;AMR_AF=0.0259;AFR_AF=0.0514;EUR_AF=0.0746;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071629;CLNALLELEID=136733;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0644;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0771;AF_popmax=0.2461;AF_male=0.0795;AF_female=0.0741;AF_raw=0.0772;AF_afr=0.0675;AF_sas=.;AF_amr=0.0414;AF_eas=0.2461;AF_nfe=0.0723;AF_fin=0.0622;AF_asj=0.0517;AF_oth=0.0626;non_topmed_AF_popmax=0.2503;non_neuro_AF_popmax=0.2461;non_cancer_AF_popmax=.;controls_AF_popmax=0.2330;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.151560;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351204 rs146401175 T G 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=18614;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146401175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0146;AF_popmax=0.0175;AF_male=0.0137;AF_female=0.0157;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0182;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0023609;Kaviar_AC=365;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.665065;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351932 rs148639029 C A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=18473;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148639029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0146;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0156;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0107192;Kaviar_AC=279;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351937 rs11065770 C T 100 PASS AC=11;AF=0.0982428;AN=214;NS=2504;DP=18761;EAS_AF=0.2024;AMR_AF=0.0216;AFR_AF=0.0068;EUR_AF=0.0755;SAS_AF=0.1922;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11065770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0644;AF_popmax=0.2448;AF_male=0.0651;AF_female=0.0635;AF_raw=0.0647;AF_afr=0.0198;AF_sas=.;AF_amr=0.0414;AF_eas=0.2448;AF_nfe=0.0726;AF_fin=0.0622;AF_asj=0.0966;AF_oth=0.0653;non_topmed_AF_popmax=0.2490;non_neuro_AF_popmax=0.2448;non_cancer_AF_popmax=.;controls_AF_popmax=0.2307;Kaviar_AF=0.0753419;Kaviar_AC=1961;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351973 rs200007468 C CAG 100 PASS AC=3;AF=0.00539137;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0038;EUR_AF=0.0139;SAS_AF=0.0041;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200007468;CLNALLELEID=179427;CLNDN=Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0441;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0063;AF=0.0146;AF_popmax=0.0176;AF_male=0.0137;AF_female=0.0157;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0208;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.730780;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111353556 rs2301610 A G 100 PASS AC=15;AF=0.115216;AN=214;NS=2504;DP=19995;EAS_AF=0.2024;AMR_AF=0.0317;AFR_AF=0.0522;EUR_AF=0.0895;SAS_AF=0.1963;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL2:NM_000432:exon3:c.T132C:p.I44I;1000g2015aug_all=0.115216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2301610;CLNALLELEID=40431;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0801;ExAC_nontcga_ALL=0.1044;ExAC_nontcga_AFR=0.0694;ExAC_nontcga_AMR=0.0328;ExAC_nontcga_EAS=0.2285;ExAC_nontcga_FIN=0.1178;ExAC_nontcga_NFE=0.0854;ExAC_nontcga_OTH=0.0994;ExAC_nontcga_SAS=0.1713;AF=0.0918;AF_popmax=0.2445;AF_male=0.0934;AF_female=0.0899;AF_raw=0.0919;AF_afr=0.0699;AF_sas=.;AF_amr=0.0519;AF_eas=0.2445;AF_nfe=0.0900;AF_fin=0.1050;AF_asj=0.0517;AF_oth=0.0754;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2341;Kaviar_AF=0.099643;Kaviar_AC=15405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934138;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111357074 rs10849917 T A 100 PASS AC=15;AF=0.166134;AN=214;NS=2504;DP=17702;EAS_AF=0.2014;AMR_AF=0.0461;AFR_AF=0.236;EUR_AF=0.0905;SAS_AF=0.1984;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.166134;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10849917;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1353;AF_popmax=0.2468;AF_male=0.1395;AF_female=0.1300;AF_raw=0.1356;AF_afr=0.2234;AF_sas=.;AF_amr=0.0684;AF_eas=0.2468;AF_nfe=0.0901;AF_fin=0.1042;AF_asj=0.0517;AF_oth=0.0855;non_topmed_AF_popmax=0.2510;non_neuro_AF_popmax=0.2468;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0203296;Kaviar_AC=3143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.406044;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111358234 rs2233258 G A 100 PASS AC=3;AF=0.0207668;AN=214;NS=2504;DP=14542;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.062;EUR_AF=0.0109;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0247;AF_popmax=0.0505;AF_male=0.0239;AF_female=0.0256;AF_raw=0.0247;AF_afr=0.0505;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0140;AF_fin=0.0291;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0503;non_neuro_AF_popmax=0.0488;non_cancer_AF_popmax=.;controls_AF_popmax=0.0530;Kaviar_AF=0.0022251;Kaviar_AC=344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.765627;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358252 rs145639951 C G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14847;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145639951;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.370126;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358266 rs76139625 C T 100 PASS AC=3;AF=0.0155751;AN=214;NS=2504;DP=15055;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0446;EUR_AF=0.0109;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76139625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0228;AF_popmax=0.0420;AF_male=0.0221;AF_female=0.0236;AF_raw=0.0228;AF_afr=0.0420;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0325;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0420;non_neuro_AF_popmax=0.0426;non_cancer_AF_popmax=.;controls_AF_popmax=0.0420;Kaviar_AF=0.0025291;Kaviar_AC=391;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.842829;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358423 rs143380163 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17657;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=MYL2;GeneDetail.refGene=dist\x3d19;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143380163;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.815549;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112856954 rs7972574 G C 100 PASS AC=2;AF=0.0632987;AN=214;NS=2504;DP=8072;EAS_AF=0.0089;AMR_AF=0.0259;AFR_AF=0.1974;EUR_AF=0.0129;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0632987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7972574;CLNALLELEID=48948;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0259;ExAC_nontcga_AFR=0.2149;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0152;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0197;AF=0.0546;AF_popmax=0.1517;AF_male=0.0563;AF_female=0.0524;AF_raw=0.0547;AF_afr=0.1517;AF_sas=.;AF_amr=0.0240;AF_eas=0.0097;AF_nfe=0.0177;AF_fin=0.0137;AF_asj=0;AF_oth=0.0370;non_topmed_AF_popmax=0.1520;non_neuro_AF_popmax=0.1451;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.0070956;Kaviar_AC=1097;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0340909::1.00307;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000057523|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1876458|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.618165;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112856983 rs7973432 C A 100 PASS AC=2;AF=0.0453275;AN=214;NS=2504;DP=8165;EAS_AF=0.0089;AMR_AF=0.0187;AFR_AF=0.1331;EUR_AF=0.0129;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0453275;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7973432;CLNALLELEID=48950;CLNDN=Noonan_syndrome;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0429;AF_popmax=0.1103;AF_male=0.0451;AF_female=0.0402;AF_raw=0.0431;AF_afr=0.1103;AF_sas=.;AF_amr=0.0203;AF_eas=0.0097;AF_nfe=0.0176;AF_fin=0.0137;AF_asj=0;AF_oth=0.0354;non_topmed_AF_popmax=0.1103;non_neuro_AF_popmax=0.1061;non_cancer_AF_popmax=.;controls_AF_popmax=0.1084;Kaviar_AF=0.0217458;Kaviar_AC=566;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.030303::1.00847;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000057523|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1876458|N/A|STAT1|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.767916;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112888140 rs147388185 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20594;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PTPN11:NM_001330437:exon3:c.C156T:p.T52T,PTPN11:NM_002834:exon3:c.C156T:p.T52T,PTPN11:NM_080601:exon3:c.C156T:p.T52T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147388185;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767811;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112891203 rs41304351 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=15124;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41304351;CLNALLELEID=48986;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0019;AF=0.0090;AF_popmax=0.0224;AF_male=0.0082;AF_female=0.0101;AF_raw=0.0090;AF_afr=0.0028;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0146;AF_fin=0.0023;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0235;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361145;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112893675 rs569070852;rs566654281 GTTT GTT 100 PASS AC=104;AF=0.477236;AN=214;NS=2504;DP=19199;EAS_AF=0.4752;AMR_AF=0.4914;AFR_AF=0.4697;EUR_AF=0.4901;SAS_AF=0.4663;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.537355;ALLELE_END GT 1|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 +12 112910723 rs200165689 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20452;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200165689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.957e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.735471;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112915434 rs41279090 C T 100 PASS AC=11;AF=0.0365415;AN=214;NS=2504;DP=19498;EAS_AF=0.001;AMR_AF=0.0663;AFR_AF=0.0197;EUR_AF=0.0716;SAS_AF=0.0389;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41279090;CLNALLELEID=49002;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0741;ExAC_nontcga_ALL=0.0575;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0483;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0375;ExAC_nontcga_NFE=0.0785;ExAC_nontcga_OTH=0.0650;ExAC_nontcga_SAS=0.0490;AF=0.0531;AF_popmax=0.0800;AF_male=0.0508;AF_female=0.0559;AF_raw=0.0530;AF_afr=0.0198;AF_sas=.;AF_amr=0.0579;AF_eas=0;AF_nfe=0.0800;AF_fin=0.0366;AF_asj=0.0586;AF_oth=0.0618;non_topmed_AF_popmax=0.0818;non_neuro_AF_popmax=0.0795;non_cancer_AF_popmax=.;controls_AF_popmax=0.0811;Kaviar_AF=0.0604003;Kaviar_AC=9338;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0776515::0.670168;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0716912::0.63378;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.940777;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112919869 rs12301915 C A 100 PASS AC=1;AF=0.0429313;AN=214;NS=2504;DP=18256;EAS_AF=0.0089;AMR_AF=0.0187;AFR_AF=0.1339;EUR_AF=0.0099;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12301915;CLNALLELEID=49012;CLNDN=Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0068;dbscSNV_RF_SCORE=0.106;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.1201;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0.0074;ExAC_nontcga_FIN=0.0141;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0096;AF=0.0424;AF_popmax=0.1111;AF_male=0.0445;AF_female=0.0397;AF_raw=0.0422;AF_afr=0.1111;AF_sas=.;AF_amr=0.0200;AF_eas=0.0096;AF_nfe=0.0162;AF_fin=0.0136;AF_asj=0;AF_oth=0.0306;non_topmed_AF_popmax=0.1110;non_neuro_AF_popmax=0.1071;non_cancer_AF_popmax=.;controls_AF_popmax=0.1091;Kaviar_AF=0.0195793;Kaviar_AC=3027;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0284091::1.03976;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.002032;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114793297 rs10850326 T C 100 PASS AC=3;AF=0.0806709;AN=214;NS=2504;DP=19954;EAS_AF=0.3462;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0481;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TBX5;GeneDetail.refGene=NM_181486:c.*40A>G\x3bNM_000192:c.*40A>G\x3bNM_080717:c.*40A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0806709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10850326;CLNALLELEID=254419;CLNDN=Holt-Oram_syndrome|not_specified;CLNDISDB=MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0414;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0.3560;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0179;ExAC_nontcga_SAS=0.0555;AF=0.0222;AF_popmax=0.3663;AF_male=0.0262;AF_female=0.0172;AF_raw=0.0223;AF_afr=0.0026;AF_sas=.;AF_amr=0.0047;AF_eas=0.3663;AF_nfe=0.0046;AF_fin=0.0040;AF_asj=0.0172;AF_oth=0.0119;non_topmed_AF_popmax=0.3656;non_neuro_AF_popmax=0.3663;non_cancer_AF_popmax=.;controls_AF_popmax=0.3606;Kaviar_AF=0.0318042;Kaviar_AC=4917;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156487;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114803927 rs3741694 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16834;EAS_AF=0.003;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3741694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.64;FATHMM_converted_rankscore=0.902;FATHMM_pred=D;PROVEAN_score=1.04;PROVEAN_converted_rankscore=0.013;PROVEAN_pred=N;VEST3_score=0.17;VEST3_rankscore=0.206;MetaSVM_score=-0.655;MetaSVM_rankscore=0.625;MetaSVM_pred=T;MetaLR_score=0.434;MetaLR_rankscore=0.775;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.076;CADD_raw_rankscore=0.087;CADD_phred=1.914;DANN_score=0.596;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.051;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.463;Eigen-PC-raw=-1.618;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-9.48;GERP++_RS_rankscore=0.005;phyloP100way_vertebrate=-1.340;phyloP100way_vertebrate_rankscore=0.027;phyloP20way_mammalian=-0.743;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=0.487;SiPhy_29way_logOdds_rankscore=0.005;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.369e-05;AF_popmax=0.0013;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.566178;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114803954 rs28730762 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=17082;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730762;CLNALLELEID=254422;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.91;FATHMM_converted_rankscore=0.847;FATHMM_pred=D;PROVEAN_score=-1.48;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.238;VEST3_rankscore=0.291;MetaSVM_score=-0.494;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.473;MetaLR_rankscore=0.798;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.287;M-CAP_pred=T;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.054;CADD_raw_rankscore=0.089;CADD_phred=2.093;DANN_score=0.566;DANN_rankscore=0.055;fathmm-MKL_coding_score=0.234;fathmm-MKL_coding_rankscore=0.218;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.486;Eigen-PC-raw=-0.674;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.113;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.65;GERP++_RS_rankscore=0.305;phyloP100way_vertebrate=0.058;phyloP100way_vertebrate_rankscore=0.141;phyloP20way_mammalian=-0.442;phyloP20way_mammalian_rankscore=0.057;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=6.304;SiPhy_29way_logOdds_rankscore=0.202;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0097;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0009;AF=0.0060;AF_popmax=0.0094;AF_male=0.0064;AF_female=0.0054;AF_raw=0.0060;AF_afr=0.0031;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0020;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0056791;Kaviar_AC=878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.353174;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114832510 rs2236017 C A 100 PASS AC=129;AF=0.528754;AN=214;NS=2504;DP=17155;EAS_AF=0.3502;AMR_AF=0.7032;AFR_AF=0.3933;EUR_AF=0.6054;SAS_AF=0.6933;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2236017;CLNALLELEID=143217;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6307;ExAC_nontcga_ALL=0.6119;ExAC_nontcga_AFR=0.4213;ExAC_nontcga_AMR=0.7992;ExAC_nontcga_EAS=0.3427;ExAC_nontcga_FIN=0.6172;ExAC_nontcga_NFE=0.6266;ExAC_nontcga_OTH=0.5821;ExAC_nontcga_SAS=0.6683;AF=0.5480;AF_popmax=0.7363;AF_male=0.5437;AF_female=0.5535;AF_raw=0.5474;AF_afr=0.4199;AF_sas=.;AF_amr=0.7363;AF_eas=0.3338;AF_nfe=0.6126;AF_fin=0.6082;AF_asj=0.5764;AF_oth=0.6153;non_topmed_AF_popmax=0.7413;non_neuro_AF_popmax=0.7135;non_cancer_AF_popmax=.;controls_AF_popmax=0.7114;Kaviar_AF=0.592625;Kaviar_AC=91621;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128885;ALLELE_END GT 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 0|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|0 1|1 1|0 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|0 0|1 1|1 0|0 0|1 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 +12 114841589 rs145703644 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=12436;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX5:NM_000192:exon2:c.C115T:p.P39S,TBX5:NM_181486:exon2:c.C115T:p.P39S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145703644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.402;Polyphen2_HVAR_rankscore=0.486;Polyphen2_HVAR_pred=B;LRT_score=0.238;LRT_converted_rankscore=0.158;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-2.45;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.219;PROVEAN_pred=N;VEST3_score=0.406;VEST3_rankscore=0.505;MetaSVM_score=0.032;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.612;MetaLR_rankscore=0.863;MetaLR_pred=D;M-CAP_score=0.140;M-CAP_rankscore=0.823;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.798;CADD_raw_rankscore=0.793;CADD_phred=27.1;DANN_score=0.998;DANN_rankscore=0.892;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.319;Eigen-PC-raw=0.385;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.437;integrated_fitCons_score_rankscore=0.062;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=6.870;phyloP100way_vertebrate_rankscore=0.751;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.787;phastCons20way_mammalian_rankscore=0.332;SiPhy_29way_logOdds=19.204;SiPhy_29way_logOdds_rankscore=0.937;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.689e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.93e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.762e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000470627|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1820206|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.930310;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23851325 rs28488316 G A 100 PASS AC=1;AF=0.0485224;AN=214;NS=2504;DP=19074;EAS_AF=0.0159;AMR_AF=0.013;AFR_AF=0.1581;EUR_AF=0.004;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0485224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28488316;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0364;AF_popmax=0.1197;AF_male=0.0374;AF_female=0.0351;AF_raw=0.0364;AF_afr=0.1197;AF_sas=.;AF_amr=0.0083;AF_eas=0.0122;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.1197;non_neuro_AF_popmax=0.1165;non_cancer_AF_popmax=.;controls_AF_popmax=0.1222;Kaviar_AF=0.0029948;Kaviar_AC=463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23851400 rs453361 C T 100 PASS AC=30;AF=0.122005;AN=214;NS=2504;DP=16707;EAS_AF=0.0169;AMR_AF=0.0591;AFR_AF=0.3154;EUR_AF=0.1054;SAS_AF=0.0307;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs453361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1496;AF_popmax=0.2695;AF_male=0.1540;AF_female=0.1442;AF_raw=0.1500;AF_afr=0.2695;AF_sas=.;AF_amr=0.0686;AF_eas=0.0122;AF_nfe=0.1157;AF_fin=0.0911;AF_asj=0.1759;AF_oth=0.1153;non_topmed_AF_popmax=0.2687;non_neuro_AF_popmax=0.2588;non_cancer_AF_popmax=.;controls_AF_popmax=0.2608;Kaviar_AF=0.0221731;Kaviar_AC=3428;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.138258::0.365479;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23852497 rs17091278 T C 100 PASS AC=1;AF=0.0848642;AN=214;NS=2504;DP=8693;EAS_AF=0.0159;AMR_AF=0.0202;AFR_AF=0.292;EUR_AF=0.004;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon37:c.A5598G:p.L1866L;1000g2015aug_all=0.0848642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17091278;CLNALLELEID=254914;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0269;ExAC_nontcga_AFR=0.2482;ExAC_nontcga_AMR=0.0147;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0073;AF=0.0697;AF_popmax=0.2392;AF_male=0.0730;AF_female=0.0655;AF_raw=0.0705;AF_afr=0.2392;AF_sas=.;AF_amr=0.0190;AF_eas=0.0124;AF_nfe=0.0044;AF_fin=0;AF_asj=0;AF_oth=0.0233;non_topmed_AF_popmax=0.2386;non_neuro_AF_popmax=0.2279;non_cancer_AF_popmax=.;controls_AF_popmax=0.2282;Kaviar_AF=0.0258276;Kaviar_AC=3993;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.883800;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23852537 rs529785746 T G 100 PASS AC=19;AF=0.240415;AN=214;NS=2504;DP=9068;EAS_AF=0.1042;AMR_AF=0.1484;AFR_AF=0.3343;EUR_AF=0.0964;SAS_AF=0.4673;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529785746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.036;ExAC_nontcga_EAS=0.0085;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0185;ExAC_nontcga_SAS=0.0881;AF=0.0331;AF_popmax=0.0714;AF_male=0.0312;AF_female=0.0350;AF_raw=0.0013;AF_afr=0.0238;AF_sas=.;AF_amr=0.0714;AF_eas=0;AF_nfe=0.0265;AF_fin=0.0577;AF_asj=0.0556;AF_oth=0.0417;non_topmed_AF_popmax=0.0833;non_neuro_AF_popmax=0.0385;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0078071;Kaviar_AC=1207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.511401;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852541 rs546563498 A G 100 PASS AC=19;AF=0.241214;AN=214;NS=2504;DP=6884;EAS_AF=0.1062;AMR_AF=0.1499;AFR_AF=0.3351;EUR_AF=0.0964;SAS_AF=0.4673;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.241214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546563498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0041;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0.0047;ExAC_nontcga_FIN=0.0105;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0205;AF=0.0430;AF_popmax=0.0427;AF_male=0.0445;AF_female=0.0414;AF_raw=0.0016;AF_afr=0.0427;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0253;AF_fin=0.1;AF_asj=0;AF_oth=0.0714;non_topmed_AF_popmax=0.0443;non_neuro_AF_popmax=0.0257;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0078265;Kaviar_AC=1210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852545 rs566376459 T G 100 PASS AC=18;AF=0.240016;AN=214;NS=2504;DP=6871;EAS_AF=0.1042;AMR_AF=0.1499;AFR_AF=0.3336;EUR_AF=0.0924;SAS_AF=0.4693;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566376459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1058;ExAC_nontcga_AFR=0.0408;ExAC_nontcga_AMR=0.1642;ExAC_nontcga_EAS=0.1842;ExAC_nontcga_FIN=0.0399;ExAC_nontcga_NFE=0.0970;ExAC_nontcga_OTH=0.0769;ExAC_nontcga_SAS=0.25;AF=0.0355;AF_popmax=0.0556;AF_male=0.0324;AF_female=0.0391;AF_raw=0.0030;AF_afr=0.0328;AF_sas=.;AF_amr=0.0217;AF_eas=0.0556;AF_nfe=0.0224;AF_fin=0.0984;AF_asj=0;AF_oth=0.0263;non_topmed_AF_popmax=0.0556;non_neuro_AF_popmax=0.0556;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0077877;Kaviar_AC=1204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852548 rs532816817 G A 100 PASS AC=3;AF=0.0523163;AN=214;NS=2504;DP=6879;EAS_AF=0.0179;AMR_AF=0.0403;AFR_AF=0.0809;EUR_AF=0.0149;SAS_AF=0.0961;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0523163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532816817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0016947;Kaviar_AC=262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 +14 23852550 rs552564291 G A 100 PASS AC=9;AF=0.141573;AN=214;NS=2504;DP=7418;EAS_AF=0.0823;AMR_AF=0.0879;AFR_AF=0.1876;EUR_AF=0.0527;SAS_AF=0.2699;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs552564291;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0156;ExAC_nontcga_AFR=0.0813;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.1047;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0189;ExAC_nontcga_SAS=0.0063;AF=6.561e-05;AF_popmax=0.0001;AF_male=5.916e-05;AF_female=7.365e-05;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.518e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0045989;Kaviar_AC=711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 +14 23853629 rs8006357 T C 100 PASS AC=75;AF=0.229633;AN=214;NS=2504;DP=15974;EAS_AF=0.1835;AMR_AF=0.2305;AFR_AF=0.1452;EUR_AF=0.2704;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8006357;CLNALLELEID=254915;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2644;ExAC_nontcga_ALL=0.2535;ExAC_nontcga_AFR=0.1649;ExAC_nontcga_AMR=0.1643;ExAC_nontcga_EAS=0.1857;ExAC_nontcga_FIN=0.2113;ExAC_nontcga_NFE=0.2694;ExAC_nontcga_OTH=0.2579;ExAC_nontcga_SAS=0.3594;AF=0.2137;AF_popmax=0.2396;AF_male=0.2132;AF_female=0.2142;AF_raw=0.2140;AF_afr=0.1641;AF_sas=.;AF_amr=0.2151;AF_eas=0.1848;AF_nfe=0.2396;AF_fin=0.2184;AF_asj=0.3379;AF_oth=0.2353;non_topmed_AF_popmax=0.2267;non_neuro_AF_popmax=0.2428;non_cancer_AF_popmax=.;controls_AF_popmax=0.2439;Kaviar_AF=0.2499;Kaviar_AC=38635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|1 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|0 +14 23853739 rs200260229 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17722;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon36:c.G5477A:p.G1826D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200260229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_rankscore=0.144;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_rankscore=0.212;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=-0.98;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.292;VEST3_rankscore=0.352;MetaSVM_score=-0.769;MetaSVM_rankscore=0.569;MetaSVM_pred=T;MetaLR_score=0.276;MetaLR_rankscore=0.648;MetaLR_pred=T;M-CAP_score=0.661;M-CAP_rankscore=0.972;M-CAP_pred=D;REVEL_score=0.134;REVEL_rankscore=0.369;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.468;CADD_raw_rankscore=0.239;CADD_phred=13.14;DANN_score=0.956;DANN_rankscore=0.267;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.034;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.963;Eigen-PC-raw=-0.904;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=-0.378;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=-1.375;phyloP20way_mammalian_rankscore=0.012;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.052;phastCons20way_mammalian_rankscore=0.166;SiPhy_29way_logOdds=9.578;SiPhy_29way_logOdds_rankscore=0.384;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.906427;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23853740 rs202141059 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon36:c.G5476A:p.G1826S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202141059;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.588;SIFT_converted_rankscore=0.058;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=0.03;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=-1.04;FATHMM_converted_rankscore=0.766;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.107;PROVEAN_pred=N;VEST3_score=0.217;VEST3_rankscore=0.266;MetaSVM_score=-0.979;MetaSVM_rankscore=0.352;MetaSVM_pred=T;MetaLR_score=0.194;MetaLR_rankscore=0.547;MetaLR_pred=T;M-CAP_score=0.450;M-CAP_rankscore=0.943;M-CAP_pred=D;REVEL_score=0.119;REVEL_rankscore=0.336;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.952;CADD_raw_rankscore=0.185;CADD_phred=10.38;DANN_score=0.922;DANN_rankscore=0.209;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.025;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.208;Eigen-PC-raw=-1.071;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.334;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=0.361;phyloP100way_vertebrate_rankscore=0.199;phyloP20way_mammalian=-1.375;phyloP20way_mammalian_rankscore=0.012;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.063;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=11.000;SiPhy_29way_logOdds_rankscore=0.466;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.906427;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23854155 rs8004990 G A 100 PASS AC=29;AF=0.0363419;AN=214;NS=2504;DP=18008;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0204;EUR_AF=0.1014;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon35:c.C5259T:p.A1753A;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8004990;CLNALLELEID=53699;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1158;ExAC_nontcga_ALL=0.0712;ExAC_nontcga_AFR=0.0303;ExAC_nontcga_AMR=0.0317;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0871;ExAC_nontcga_NFE=0.1045;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0372;AF=0.0794;AF_popmax=0.1116;AF_male=0.0802;AF_female=0.0783;AF_raw=0.0794;AF_afr=0.0297;AF_sas=.;AF_amr=0.0495;AF_eas=0;AF_nfe=0.1116;AF_fin=0.0915;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1047;non_neuro_AF_popmax=0.1105;non_cancer_AF_popmax=.;controls_AF_popmax=0.09;Kaviar_AF=0.0772823;Kaviar_AC=11948;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.826898;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23854272 rs178637 T C 100 PASS AC=19;AF=0.072484;AN=214;NS=2504;DP=18773;EAS_AF=0.0595;AMR_AF=0.0533;AFR_AF=0.0696;EUR_AF=0.0994;SAS_AF=0.0757;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.072484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178637;CLNALLELEID=254916;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0844;ExAC_nontcga_ALL=0.0824;ExAC_nontcga_AFR=0.0610;ExAC_nontcga_AMR=0.0273;ExAC_nontcga_EAS=0.0668;ExAC_nontcga_FIN=0.1682;ExAC_nontcga_NFE=0.0898;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0803;AF=0.0820;AF_popmax=0.0785;AF_male=0.0796;AF_female=0.0849;AF_raw=0.0822;AF_afr=0.0626;AF_sas=.;AF_amr=0.0390;AF_eas=0.0572;AF_nfe=0.0785;AF_fin=0.1647;AF_asj=0.0448;AF_oth=0.1011;non_topmed_AF_popmax=0.0792;non_neuro_AF_popmax=0.0777;non_cancer_AF_popmax=.;controls_AF_popmax=0.0806;Kaviar_AF=0.0795915;Kaviar_AC=12305;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::-0.473572;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 +14 23854324 rs178638 A G 100 PASS AC=124;AF=0.488019;AN=214;NS=2504;DP=18862;EAS_AF=0.254;AMR_AF=0.366;AFR_AF=0.7474;EUR_AF=0.4891;SAS_AF=0.4642;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.488019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178638;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5098;AF_popmax=0.6898;AF_male=0.5136;AF_female=0.5051;AF_raw=0.5099;AF_afr=0.6898;AF_sas=.;AF_amr=0.3400;AF_eas=0.2519;AF_nfe=0.4519;AF_fin=0.4778;AF_asj=0.5621;AF_oth=0.4805;non_topmed_AF_popmax=0.6897;non_neuro_AF_popmax=0.6819;non_cancer_AF_popmax=.;controls_AF_popmax=0.6854;Kaviar_AF=0.0920234;Kaviar_AC=14227;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.203124;ALLELE_END GT 1|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 +14 23855320 rs382872 G A 100 PASS AC=29;AF=0.0365415;AN=214;NS=2504;DP=21083;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0212;EUR_AF=0.1014;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.C4980T:p.D1660D;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs382872;CLNALLELEID=53695;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1159;ExAC_nontcga_ALL=0.0714;ExAC_nontcga_AFR=0.0308;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0876;ExAC_nontcga_NFE=0.1047;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0372;AF=0.0795;AF_popmax=0.1116;AF_male=0.0805;AF_female=0.0783;AF_raw=0.0797;AF_afr=0.0303;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.1116;AF_fin=0.0913;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1046;non_neuro_AF_popmax=0.1106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0900;Kaviar_AF=0.0777868;Kaviar_AC=12026;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.760304;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855357 rs28730764 T A 100 PASS AC=1;AF=0.0489217;AN=214;NS=2504;DP=20363;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1611;EUR_AF=0.004;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0489217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730764;CLNALLELEID=45294;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0160;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0070;AF=0.0356;AF_popmax=0.1165;AF_male=0.0371;AF_female=0.0337;AF_raw=0.0352;AF_afr=0.1165;AF_sas=.;AF_amr=0.0095;AF_eas=0.0124;AF_nfe=0.0042;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1117;non_cancer_AF_popmax=.;controls_AF_popmax=0.1137;Kaviar_AF=0.0153426;Kaviar_AC=2372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855478 rs396024 C G 100 PASS AC=29;AF=0.0365415;AN=214;NS=2504;DP=18091;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0212;EUR_AF=0.1014;SAS_AF=0.0256;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs396024;CLNALLELEID=254917;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1149;ExAC_nontcga_ALL=0.0708;ExAC_nontcga_AFR=0.0309;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0864;ExAC_nontcga_NFE=0.1038;ExAC_nontcga_OTH=0.0872;ExAC_nontcga_SAS=0.0372;AF=0.0794;AF_popmax=0.1114;AF_male=0.0802;AF_female=0.0784;AF_raw=0.0795;AF_afr=0.0302;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.1114;AF_fin=0.0915;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1047;non_neuro_AF_popmax=0.1102;non_cancer_AF_popmax=.;controls_AF_popmax=0.0898;Kaviar_AF=0.0767778;Kaviar_AC=11870;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855511 rs28730765 C T 100 PASS AC=3;AF=0.00539137;AN=214;NS=2504;DP=18781;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.003;EUR_AF=0.0169;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730765;CLNALLELEID=45293;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0069;AF=0.0094;AF_popmax=0.0130;AF_male=0.0091;AF_female=0.0097;AF_raw=0.0094;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0130;AF_fin=0.0141;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.00967;Kaviar_AC=1495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.810167;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855569 rs178640 A G 100 PASS AC=124;AF=0.492812;AN=214;NS=2504;DP=18793;EAS_AF=0.2569;AMR_AF=0.3718;AFR_AF=0.7579;EUR_AF=0.4891;SAS_AF=0.4673;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;1000g2015aug_all=0.492812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178640;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4855;ExAC_nontcga_ALL=0.4629;ExAC_nontcga_AFR=0.7084;ExAC_nontcga_AMR=0.2596;ExAC_nontcga_EAS=0.2597;ExAC_nontcga_FIN=0.4705;ExAC_nontcga_NFE=0.4844;ExAC_nontcga_OTH=0.4438;ExAC_nontcga_SAS=0.4903;AF=0.5127;AF_popmax=0.6974;AF_male=0.5162;AF_female=0.5082;AF_raw=0.5124;AF_afr=0.6974;AF_sas=.;AF_amr=0.3472;AF_eas=0.2497;AF_nfe=0.4530;AF_fin=0.4781;AF_asj=0.5621;AF_oth=0.4806;non_topmed_AF_popmax=0.6977;non_neuro_AF_popmax=0.6916;non_cancer_AF_popmax=.;controls_AF_popmax=0.6958;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731303;ALLELE_END GT 1|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 +14 23855645 rs61742476 A G 100 PASS AC=1;AF=0.048722;AN=214;NS=2504;DP=19618;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1604;EUR_AF=0.004;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4838C:p.V1613A;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61742476;CLNALLELEID=53689;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=-2.26;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=-1.03;FATHMM_converted_rankscore=0.764;FATHMM_pred=T;PROVEAN_score=2.59;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-1.065;MetaSVM_rankscore=0.106;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.020;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.243;REVEL_rankscore=0.554;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.714;CADD_raw_rankscore=0.267;CADD_phred=14.49;DANN_score=0.872;DANN_rankscore=0.165;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.808;Eigen-PC-raw=-0.468;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.5;GERP++_RS_rankscore=0.542;phyloP100way_vertebrate=8.003;phyloP100way_vertebrate_rankscore=0.880;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=12.983;SiPhy_29way_logOdds_rankscore=0.578;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.1199;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0.0153;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0070;AF=0.0351;AF_popmax=0.1151;AF_male=0.0366;AF_female=0.0333;AF_raw=0.0353;AF_afr=0.1151;AF_sas=.;AF_amr=0.0095;AF_eas=0.0122;AF_nfe=0.0044;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1148;non_neuro_AF_popmax=0.1105;non_cancer_AF_popmax=.;controls_AF_popmax=0.1121;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.874320;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855705 rs45574136 T A 100 PASS AC=1;AF=0.0491214;AN=214;NS=2504;DP=19870;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1604;EUR_AF=0.005;SAS_AF=0.0061;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.A4778T:p.Q1593L;1000g2015aug_all=0.0491214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45574136;CLNALLELEID=53687;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.816;SIFT_converted_rankscore=0.030;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.226;MutationTaster_pred=N;MutationAssessor_score=1.51;MutationAssessor_score_rankscore=0.383;MutationAssessor_pred=L;FATHMM_score=-1.26;FATHMM_converted_rankscore=0.792;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.061;VEST3_rankscore=0.045;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.142;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.421;CADD_raw_rankscore=0.234;CADD_phred=12.90;DANN_score=0.758;DANN_rankscore=0.108;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_rankscore=0.294;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.790;Eigen-PC-raw=-0.696;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.82;GERP++_RS_rankscore=0.241;phyloP100way_vertebrate=1.987;phyloP100way_vertebrate_rankscore=0.401;phyloP20way_mammalian=-0.763;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.914;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=10.179;SiPhy_29way_logOdds_rankscore=0.419;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0148;ExAC_nontcga_AFR=0.1176;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.0162;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0074;AF=0.0349;AF_popmax=0.1147;AF_male=0.0362;AF_female=0.0332;AF_raw=0.0351;AF_afr=0.1147;AF_sas=.;AF_amr=0.0094;AF_eas=0.0116;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.1144;non_neuro_AF_popmax=0.1100;non_cancer_AF_popmax=.;controls_AF_popmax=0.1117;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694755;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855711 rs200751434 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19588;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.A4772G:p.N1591S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200751434;CLNALLELEID=53686;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.029;SIFT_converted_rankscore=0.457;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.916;Polyphen2_HVAR_rankscore=0.634;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-1.22;FATHMM_converted_rankscore=0.788;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.640;PROVEAN_pred=D;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=0.143;MetaSVM_rankscore=0.849;MetaSVM_pred=D;MetaLR_score=0.539;MetaLR_rankscore=0.830;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.703;M-CAP_pred=D;REVEL_score=0.596;REVEL_rankscore=0.842;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.594;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.942;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.687;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.465;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.26;GERP++_RS_rankscore=0.497;phyloP100way_vertebrate=6.196;phyloP100way_vertebrate_rankscore=0.718;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=13.679;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.591e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.567e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896955;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855849 rs2071634 C T 100 PASS AC=74;AF=0.235224;AN=214;NS=2504;DP=16038;EAS_AF=0.1756;AMR_AF=0.2334;AFR_AF=0.1679;EUR_AF=0.2684;SAS_AF=0.3548;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.235224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071634;CLNALLELEID=254918;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2634;ExAC_nontcga_ALL=0.2539;ExAC_nontcga_AFR=0.1859;ExAC_nontcga_AMR=0.1633;ExAC_nontcga_EAS=0.1738;ExAC_nontcga_FIN=0.2112;ExAC_nontcga_NFE=0.2698;ExAC_nontcga_OTH=0.2592;ExAC_nontcga_SAS=0.3763;AF=0.2190;AF_popmax=0.2390;AF_male=0.2182;AF_female=0.2201;AF_raw=0.2190;AF_afr=0.1850;AF_sas=.;AF_amr=0.2156;AF_eas=0.1795;AF_nfe=0.2390;AF_fin=0.2181;AF_asj=0.3379;AF_oth=0.2389;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.2418;non_cancer_AF_popmax=.;controls_AF_popmax=0.2398;Kaviar_AF=0.247021;Kaviar_AC=38190;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.350017;ALLELE_END GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|0 +14 23856714 rs45536340 G A 100 PASS AC=14;AF=0.019369;AN=214;NS=2504;DP=18261;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45536340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0417;ExAC_nontcga_ALL=0.0308;ExAC_nontcga_AFR=0.0061;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0214;ExAC_nontcga_NFE=0.0413;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0358;AF=0.0219;AF_popmax=0.0334;AF_male=0.0227;AF_female=0.0210;AF_raw=0.0220;AF_afr=0.0036;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0334;AF_fin=0.0196;AF_asj=0.0793;AF_oth=0.0230;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0303489;Kaviar_AC=4692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23856861 rs34855944 C T 100 PASS AC=1;AF=0.0325479;AN=214;NS=2504;DP=17349;EAS_AF=0.0149;AMR_AF=0.0058;AFR_AF=0.1029;EUR_AF=0.004;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon32:c.G4527A:p.E1509E;1000g2015aug_all=0.0325479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34855944;CLNALLELEID=53682;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0269;dbscSNV_RF_SCORE=0.166;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0807;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0059;AF=0.0239;AF_popmax=0.0749;AF_male=0.0245;AF_female=0.0230;AF_raw=0.0239;AF_afr=0.0749;AF_sas=.;AF_amr=0.0071;AF_eas=0.0116;AF_nfe=0.0043;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0748;non_neuro_AF_popmax=0.0726;non_cancer_AF_popmax=.;controls_AF_popmax=0.0742;Kaviar_AF=0.0112806;Kaviar_AC=1744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.643398;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23856896 rs178642 A G 100 PASS AC=96;AF=0.471645;AN=214;NS=2504;DP=17111;EAS_AF=0.6062;AMR_AF=0.536;AFR_AF=0.41;EUR_AF=0.4831;SAS_AF=0.3589;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178642;CLNALLELEID=254919;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4965;ExAC_nontcga_ALL=0.4957;ExAC_nontcga_AFR=0.4148;ExAC_nontcga_AMR=0.5647;ExAC_nontcga_EAS=0.6298;ExAC_nontcga_FIN=0.5787;ExAC_nontcga_NFE=0.4970;ExAC_nontcga_OTH=0.5274;ExAC_nontcga_SAS=0.3904;AF=0.4918;AF_popmax=0.6273;AF_male=0.4936;AF_female=0.4896;AF_raw=0.4911;AF_afr=0.4168;AF_sas=.;AF_amr=0.5118;AF_eas=0.6273;AF_nfe=0.5002;AF_fin=0.5662;AF_asj=0.5451;AF_oth=0.5111;non_topmed_AF_popmax=0.6310;non_neuro_AF_popmax=0.6273;non_cancer_AF_popmax=.;controls_AF_popmax=0.6322;Kaviar_AF=0.490039;Kaviar_AC=75761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 1|1 1|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 +14 23857100 rs141811321 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17643;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon31:c.G4392A:p.E1464E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141811321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848252;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23857351 rs8022522 G A 100 PASS AC=95;AF=0.419728;AN=214;NS=2504;DP=18004;EAS_AF=0.1548;AMR_AF=0.2939;AFR_AF=0.7995;EUR_AF=0.3638;SAS_AF=0.3262;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.419728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8022522;CLNALLELEID=53677;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3660;ExAC_nontcga_ALL=0.3523;ExAC_nontcga_AFR=0.7403;ExAC_nontcga_AMR=0.2157;ExAC_nontcga_EAS=0.1614;ExAC_nontcga_FIN=0.2676;ExAC_nontcga_NFE=0.3588;ExAC_nontcga_OTH=0.3256;ExAC_nontcga_SAS=0.3365;AF=0.4347;AF_popmax=0.7281;AF_male=0.4431;AF_female=0.4241;AF_raw=0.4345;AF_afr=0.7281;AF_sas=.;AF_amr=0.2972;AF_eas=0.1532;AF_nfe=0.3462;AF_fin=0.2742;AF_asj=0.4621;AF_oth=0.3582;non_topmed_AF_popmax=0.7277;non_neuro_AF_popmax=0.7203;non_cancer_AF_popmax=.;controls_AF_popmax=0.7260;Kaviar_AF=0.346321;Kaviar_AC=53542;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.733952;ALLELE_END GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 0|1 1|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23858008 rs573774113 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573774113;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0017;AF_popmax=0.0035;AF_male=0.0014;AF_female=0.0019;AF_raw=0.0017;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.045804;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23858232 rs451794 C T 100 PASS AC=30;AF=0.0347444;AN=214;NS=2504;DP=14843;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.0083;EUR_AF=0.1064;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.G4011A:p.S1337S;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs451794;CLNALLELEID=53668;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1172;ExAC_nontcga_ALL=0.0726;ExAC_nontcga_AFR=0.0219;ExAC_nontcga_AMR=0.0379;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0816;ExAC_nontcga_NFE=0.1078;ExAC_nontcga_OTH=0.0877;ExAC_nontcga_SAS=0.0382;AF=0.0795;AF_popmax=0.1168;AF_male=0.0808;AF_female=0.0779;AF_raw=0.0796;AF_afr=0.0228;AF_sas=.;AF_amr=0.0557;AF_eas=0;AF_nfe=0.1168;AF_fin=0.0858;AF_asj=0.1897;AF_oth=0.0911;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1161;non_cancer_AF_popmax=.;controls_AF_popmax=0.0966;Kaviar_AF=0.0789964;Kaviar_AC=12213;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.111742::0.430355;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902271;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23858275 rs200618133 G C 100 PASS AC=1;AF=0.0279553;AN=214;NS=2504;DP=14755;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.0953;EUR_AF=0.004;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200618133;CLNALLELEID=328943;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.026;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0862;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0015;AF=0.0268;AF_popmax=0.0798;AF_male=0.0272;AF_female=0.0264;AF_raw=0.0269;AF_afr=0.0798;AF_sas=.;AF_amr=0.0178;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.0797;non_neuro_AF_popmax=0.0813;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.011203;Kaviar_AC=1732;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.665719;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23858697 rs34935550 C G 100 PASS AC=3;AF=0.00419329;AN=214;NS=2504;DP=16922;EAS_AF=0.0139;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon28:c.G3883C:p.E1295Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34935550;CLNALLELEID=53659;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.952;Polyphen2_HVAR_rankscore=0.674;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.02;MutationAssessor_score_rankscore=0.865;MutationAssessor_pred=M;FATHMM_score=-1.55;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-2.12;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.355;VEST3_rankscore=0.417;MetaSVM_score=0.499;MetaSVM_rankscore=0.905;MetaSVM_pred=D;MetaLR_score=0.623;MetaLR_rankscore=0.867;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.768;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.301;CADD_raw_rankscore=0.870;CADD_phred=29.1;DANN_score=0.999;DANN_rankscore=0.936;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.863;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=7.764;phyloP100way_vertebrate_rankscore=0.840;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.902;phastCons20way_mammalian_rankscore=0.382;SiPhy_29way_logOdds=17.870;SiPhy_29way_logOdds_rankscore=0.887;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0173;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0024;AF=0.0022;AF_popmax=0.0128;AF_male=0.0021;AF_female=0.0022;AF_raw=0.0022;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0.0128;AF_nfe=0.0026;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0125;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898914;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23859551 rs564367705 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17363;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.C3447G:p.S1149R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564367705;CLNALLELEID=497446;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-1.23;FATHMM_converted_rankscore=0.789;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.655;PROVEAN_pred=D;VEST3_score=0.73;VEST3_rankscore=0.728;MetaSVM_score=0.181;MetaSVM_rankscore=0.856;MetaSVM_pred=D;MetaLR_score=0.624;MetaLR_rankscore=0.868;MetaLR_pred=D;M-CAP_score=0.573;M-CAP_rankscore=0.962;M-CAP_pred=D;REVEL_score=0.666;REVEL_rankscore=0.877;MutPred_score=0.608;MutPred_rankscore=0.741;CADD_raw=5.232;CADD_raw_rankscore=0.707;CADD_phred=25.6;DANN_score=0.998;DANN_rankscore=0.843;fathmm-MKL_coding_score=0.446;fathmm-MKL_coding_rankscore=0.271;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.178;Eigen-PC-raw=-0.033;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.134;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-1.18;GERP++_RS_rankscore=0.091;phyloP100way_vertebrate=-0.486;phyloP100way_vertebrate_rankscore=0.065;phyloP20way_mammalian=-0.106;phyloP20way_mammalian_rankscore=0.116;phastCons100way_vertebrate=0.039;phastCons100way_vertebrate_rankscore=0.207;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=10.074;SiPhy_29way_logOdds_rankscore=0.413;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932802;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23859610 rs28730771 C T 100 PASS AC=35;AF=0.0728834;AN=214;NS=2504;DP=17242;EAS_AF=0.0605;AMR_AF=0.121;AFR_AF=0.0098;EUR_AF=0.1352;SAS_AF=0.0726;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.G3388A:p.A1130T;1000g2015aug_all=0.0728834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730771;CLNALLELEID=53650;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.713;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.004;MutationTaster_converted_rankscore=0.431;MutationTaster_pred=P;MutationAssessor_score=2.01;MutationAssessor_score_rankscore=0.549;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_converted_rankscore=0.827;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.275;VEST3_rankscore=0.333;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.036;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.402;REVEL_rankscore=0.719;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.149;CADD_raw_rankscore=0.695;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.959;fathmm-MKL_coding_score=0.644;fathmm-MKL_coding_rankscore=0.321;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.116;Eigen-PC-raw=0.050;GenoCanyon_score=0.544;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=0.899;phyloP100way_vertebrate_rankscore=0.279;phyloP20way_mammalian=0.013;phyloP20way_mammalian_rankscore=0.140;phastCons100way_vertebrate=0.230;phastCons100way_vertebrate_rankscore=0.244;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=9.869;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0982;ExAC_nontcga_AFR=0.0255;ExAC_nontcga_AMR=0.0992;ExAC_nontcga_EAS=0.0759;ExAC_nontcga_FIN=0.0931;ExAC_nontcga_NFE=0.1203;ExAC_nontcga_OTH=0.0987;ExAC_nontcga_SAS=0.0716;AF=0.0817;AF_popmax=0.1179;AF_male=0.0804;AF_female=0.0834;AF_raw=0.0826;AF_afr=0.0253;AF_sas=.;AF_amr=0.1179;AF_eas=0.0580;AF_nfe=0.1119;AF_fin=0.0893;AF_asj=0.0868;AF_oth=0.0875;non_topmed_AF_popmax=0.1169;non_neuro_AF_popmax=0.1314;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.091894;Kaviar_AC=14207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917217;ALLELE_END GT 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 +14 23859714 rs112405990 C T 100 PASS AC=10;AF=0.0992412;AN=214;NS=2504;DP=18759;EAS_AF=0;AMR_AF=0.0403;AFR_AF=0.2723;EUR_AF=0.0606;SAS_AF=0.0491;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0992412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112405990;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1149;AF_popmax=0.2483;AF_male=0.1172;AF_female=0.1121;AF_raw=0.1150;AF_afr=0.2483;AF_sas=.;AF_amr=0.0425;AF_eas=0;AF_nfe=0.0678;AF_fin=0.0706;AF_asj=0.0655;AF_oth=0.0930;non_topmed_AF_popmax=0.2496;non_neuro_AF_popmax=0.2470;non_cancer_AF_popmax=.;controls_AF_popmax=0.2564;Kaviar_AF=0.0139325;Kaviar_AC=2154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.029449;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23861811 rs365990 A G 100 PASS AC=87;AF=0.3748;AN=214;NS=2504;DP=19097;EAS_AF=0.1597;AMR_AF=0.2925;AFR_AF=0.6437;EUR_AF=0.3489;SAS_AF=0.318;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;1000g2015aug_all=0.3748;GWAS=rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201;ORegAnno_REGULATORY_P=rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201;avsnp150=rs365990;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.81;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_converted_rankscore=0.754;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.021;VEST3_rankscore=0.005;MetaSVM_score=-0.949;MetaSVM_rankscore=0.412;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.146;REVEL_rankscore=0.393;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.873;CADD_raw_rankscore=0.177;CADD_phred=9.908;DANN_score=0.808;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.023;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.022;Eigen-PC-raw=-0.808;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.328;integrated_fitCons_score=0.422;integrated_fitCons_score_rankscore=0.057;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=3.368;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.080;phyloP20way_mammalian_rankscore=0.190;phastCons100way_vertebrate=0.841;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=9.475;SiPhy_29way_logOdds_rankscore=0.378;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3737;ExAC_nontcga_ALL=0.3406;ExAC_nontcga_AFR=0.6295;ExAC_nontcga_AMR=0.2167;ExAC_nontcga_EAS=0.1643;ExAC_nontcga_FIN=0.2713;ExAC_nontcga_NFE=0.3613;ExAC_nontcga_OTH=0.3357;ExAC_nontcga_SAS=0.3096;AF=0.4183;AF_popmax=0.6317;AF_male=0.4239;AF_female=0.4114;AF_raw=0.4178;AF_afr=0.6317;AF_sas=.;AF_amr=0.2867;AF_eas=0.1596;AF_nfe=0.3666;AF_fin=0.2777;AF_asj=0.4861;AF_oth=0.3555;non_topmed_AF_popmax=0.6318;non_neuro_AF_popmax=0.6266;non_cancer_AF_popmax=.;controls_AF_popmax=0.6285;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907217;ALLELE_END GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 0|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|1 1|1 0|0 +14 23862710 rs145274612 C T 100 PASS AC=2;AF=0.00419329;AN=214;NS=2504;DP=22617;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon23:c.G2946A:p.E982E;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145274612;CLNALLELEID=53642;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0349;ExAC_nontcga_NFE=0.0131;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0020;AF=0.0124;AF_popmax=0.0147;AF_male=0.0106;AF_female=0.0147;AF_raw=0.0124;AF_afr=0.0021;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0316;AF_asj=0.0345;AF_oth=0.0193;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0096506;Kaviar_AC=1492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934523;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23862783 rs554381670 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21854;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554381670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23862785 rs574444606 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21745;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574444606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23863152 rs28730773 A G 100 PASS AC=4;AF=0.0585064;AN=214;NS=2504;DP=21056;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1846;EUR_AF=0.0139;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0585064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730773;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0270;ExAC_nontcga_AFR=0.1633;ExAC_nontcga_AMR=0.0230;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0299;AF=0.0483;AF_popmax=0.1562;AF_male=0.0502;AF_female=0.0459;AF_raw=0.0484;AF_afr=0.1562;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0006;AF_asj=0.0241;AF_oth=0.0203;non_topmed_AF_popmax=0.1562;non_neuro_AF_popmax=0.1496;non_cancer_AF_popmax=.;controls_AF_popmax=0.1519;Kaviar_AF=0.0257435;Kaviar_AC=3980;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.127534;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 +14 23863247 rs574632194 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19558;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574632194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23865885 rs452036 G A 100 PASS AC=84;AF=0.367812;AN=214;NS=2504;DP=21790;EAS_AF=0.1577;AMR_AF=0.2839;AFR_AF=0.6362;EUR_AF=0.336;SAS_AF=0.3139;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.367812;GWAS=rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448;ORegAnno_REGULATORY_P=rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448;avsnp150=rs452036;CLNALLELEID=254920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3628;ExAC_nontcga_ALL=0.3330;ExAC_nontcga_AFR=0.6229;ExAC_nontcga_AMR=0.2084;ExAC_nontcga_EAS=0.1607;ExAC_nontcga_FIN=0.2711;ExAC_nontcga_NFE=0.3525;ExAC_nontcga_OTH=0.3357;ExAC_nontcga_SAS=0.3005;AF=0.4126;AF_popmax=0.6288;AF_male=0.4178;AF_female=0.4062;AF_raw=0.4126;AF_afr=0.6288;AF_sas=.;AF_amr=0.2754;AF_eas=0.1532;AF_nfe=0.3590;AF_fin=0.2734;AF_asj=0.4793;AF_oth=0.3474;non_topmed_AF_popmax=0.6287;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6252;Kaviar_AF=0.339006;Kaviar_AC=52411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23866146 rs148225043 G C 100 PASS AC=11;AF=0.0325479;AN=214;NS=2504;DP=21261;EAS_AF=0.0685;AMR_AF=0.0303;AFR_AF=0.0038;EUR_AF=0.0179;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0325479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148225043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0241;ExAC_nontcga_AFR=0.0041;ExAC_nontcga_AMR=0.0399;ExAC_nontcga_EAS=0.0846;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0339;AF=0.0121;AF_popmax=0.0776;AF_male=0.0132;AF_female=0.0107;AF_raw=0.0121;AF_afr=0.0032;AF_sas=.;AF_amr=0.0318;AF_eas=0.0776;AF_nfe=0.0099;AF_fin=0.0075;AF_asj=0.0345;AF_oth=0.0138;non_topmed_AF_popmax=0.0756;non_neuro_AF_popmax=0.0776;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.0213257;Kaviar_AC=3297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23866189 rs76202964 G A 100 PASS AC=11;AF=0.0339457;AN=214;NS=2504;DP=21958;EAS_AF=0.0694;AMR_AF=0.0303;AFR_AF=0.0076;EUR_AF=0.0189;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76202964;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0245;ExAC_nontcga_AFR=0.0076;ExAC_nontcga_AMR=0.0405;ExAC_nontcga_EAS=0.0846;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0339;AF=0.0130;AF_popmax=0.0769;AF_male=0.0140;AF_female=0.0118;AF_raw=0.0130;AF_afr=0.0063;AF_sas=.;AF_amr=0.0318;AF_eas=0.0769;AF_nfe=0.0100;AF_fin=0.0075;AF_asj=0.0345;AF_oth=0.0147;non_topmed_AF_popmax=0.0749;non_neuro_AF_popmax=0.0769;non_cancer_AF_popmax=.;controls_AF_popmax=0.0830;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914829;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23866713 rs412768 A G 100 PASS AC=73;AF=0.30651;AN=214;NS=2504;DP=19307;EAS_AF=0.1607;AMR_AF=0.2493;AFR_AF=0.4743;EUR_AF=0.2883;SAS_AF=0.2894;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.30651;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs412768;CLNALLELEID=254921;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3187;ExAC_nontcga_ALL=0.2925;ExAC_nontcga_AFR=0.4723;ExAC_nontcga_AMR=0.1757;ExAC_nontcga_EAS=0.1631;ExAC_nontcga_FIN=0.2627;ExAC_nontcga_NFE=0.3140;ExAC_nontcga_OTH=0.3055;ExAC_nontcga_SAS=0.2753;AF=0.3510;AF_popmax=0.4836;AF_male=0.3533;AF_female=0.3480;AF_raw=0.3511;AF_afr=0.4836;AF_sas=.;AF_amr=0.2335;AF_eas=0.1566;AF_nfe=0.3235;AF_fin=0.2641;AF_asj=0.4345;AF_oth=0.3076;non_topmed_AF_popmax=0.4832;non_neuro_AF_popmax=0.4849;non_cancer_AF_popmax=.;controls_AF_popmax=0.4828;Kaviar_AF=0.291173;Kaviar_AC=45016;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.363987;ALLELE_END GT 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 0|1 0|0 +14 23866872 rs201845555 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19704;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201845555;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0008;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0026;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23866925 rs28730775 G C 100 PASS AC=3;AF=0.0499201;AN=214;NS=2504;DP=18646;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1528;EUR_AF=0.0129;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0369;AF_popmax=0.1177;AF_male=0.0383;AF_female=0.0353;AF_raw=0.0371;AF_afr=0.1177;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0006;AF_asj=0.0241;AF_oth=0.0193;non_topmed_AF_popmax=0.1174;non_neuro_AF_popmax=0.1150;non_cancer_AF_popmax=.;controls_AF_popmax=0.1175;Kaviar_AF=0.0038098;Kaviar_AC=589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23868285 rs439735 G A 100 PASS AC=64;AF=0.16873;AN=214;NS=2504;DP=19054;EAS_AF=0.0734;AMR_AF=0.1614;AFR_AF=0.1778;EUR_AF=0.2485;SAS_AF=0.1779;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.16873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs439735;CLNALLELEID=254922;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2597;ExAC_nontcga_ALL=0.2098;ExAC_nontcga_AFR=0.1848;ExAC_nontcga_AMR=0.1133;ExAC_nontcga_EAS=0.0631;ExAC_nontcga_FIN=0.2207;ExAC_nontcga_NFE=0.2591;ExAC_nontcga_OTH=0.2108;ExAC_nontcga_SAS=0.1923;AF=0.2252;AF_popmax=0.2597;AF_male=0.2220;AF_female=0.2292;AF_raw=0.2255;AF_afr=0.1952;AF_sas=.;AF_amr=0.1604;AF_eas=0.0668;AF_nfe=0.2597;AF_fin=0.2221;AF_asj=0.3552;AF_oth=0.2306;non_topmed_AF_popmax=0.2485;non_neuro_AF_popmax=0.2571;non_cancer_AF_popmax=.;controls_AF_popmax=0.2330;Kaviar_AF=0.211808;Kaviar_AC=32746;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23869665 rs577792124 CA C 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21836;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0031;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577792124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0134;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0032;AF=0.0072;AF_popmax=0.0153;AF_male=0.0068;AF_female=0.0077;AF_raw=0.0072;AF_afr=0.0017;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0124;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.904842;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +14 23869993 rs61731179 G A 100 PASS AC=26;AF=0.0321486;AN=214;NS=2504;DP=21394;EAS_AF=0;AMR_AF=0.0403;AFR_AF=0.0023;EUR_AF=0.0755;SAS_AF=0.0552;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon13:c.C1335T:p.N445N;1000g2015aug_all=0.0321486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731179;CLNALLELEID=53618;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0620;ExAC_nontcga_ALL=0.0550;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.0309;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0404;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0476;ExAC_nontcga_SAS=0.0834;AF=0.0394;AF_popmax=0.0556;AF_male=0.0394;AF_female=0.0395;AF_raw=0.0394;AF_afr=0.0111;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0556;AF_fin=0.0455;AF_asj=0.0862;AF_oth=0.0691;non_topmed_AF_popmax=0.0547;non_neuro_AF_popmax=0.0556;non_cancer_AF_popmax=.;controls_AF_popmax=0.0519;Kaviar_AF=0.0529877;Kaviar_AC=8192;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865212;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 +14 23871753 rs201375441 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon12:c.C1061T:p.T354M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201375441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.881;Polyphen2_HVAR_rankscore=0.608;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_score_rankscore=0.304;MutationAssessor_pred=L;FATHMM_score=-2.24;FATHMM_converted_rankscore=0.872;FATHMM_pred=D;PROVEAN_score=-3.57;PROVEAN_converted_rankscore=0.690;PROVEAN_pred=D;VEST3_score=0.728;VEST3_rankscore=0.727;MetaSVM_score=0.615;MetaSVM_rankscore=0.921;MetaSVM_pred=D;MetaLR_score=0.738;MetaLR_rankscore=0.911;MetaLR_pred=D;M-CAP_score=0.165;M-CAP_rankscore=0.844;M-CAP_pred=D;REVEL_score=0.731;REVEL_rankscore=0.907;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.859;CADD_raw_rankscore=0.652;CADD_phred=24.9;DANN_score=0.998;DANN_rankscore=0.907;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.510;Eigen-PC-raw=0.453;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.82;GERP++_RS_rankscore=0.430;phyloP100way_vertebrate=6.535;phyloP100way_vertebrate_rankscore=0.736;phyloP20way_mammalian=0.982;phyloP20way_mammalian_rankscore=0.598;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=15.063;SiPhy_29way_logOdds_rankscore=0.715;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.894652;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23871840 rs45466392 G T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=14998;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45466392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0021;AF=0.0037;AF_popmax=0.0059;AF_male=0.0037;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45466392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0021;AF=0.0037;AF_popmax=0.0059;AF_male=0.0037;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23871909 rs78107039 G A 100 PASS AC=3;AF=0.0423323;AN=214;NS=2504;DP=14970;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1256;EUR_AF=0.0129;SAS_AF=0.0266;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.C999T:p.T333T;1000g2015aug_all=0.0423323;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78107039;CLNALLELEID=45296;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0204;ExAC_nontcga_AFR=0.1054;ExAC_nontcga_AMR=0.0186;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0263;AF=0.0296;AF_popmax=0.0924;AF_male=0.0307;AF_female=0.0282;AF_raw=0.0300;AF_afr=0.0924;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0003;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0922;non_neuro_AF_popmax=0.0891;non_cancer_AF_popmax=.;controls_AF_popmax=0.0876;Kaviar_AF=0.0195728;Kaviar_AC=3026;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.812513;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23871999 rs17091623 C T 100 PASS AC=2;AF=0.0311502;AN=214;NS=2504;DP=14917;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1021;EUR_AF=0.002;SAS_AF=0.0102;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.G909A:p.L303L;1000g2015aug_all=0.0311502;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17091623;CLNALLELEID=53713;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0932;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0081;AF=0.0249;AF_popmax=0.0869;AF_male=0.0256;AF_female=0.0240;AF_raw=0.0251;AF_afr=0.0869;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0035;AF_oth=0.0046;non_topmed_AF_popmax=0.0870;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0872;Kaviar_AF=0.0091137;Kaviar_AC=1409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875589;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23872666 rs434273 T C 100 PASS AC=159;AF=0.784944;AN=214;NS=2504;DP=17979;EAS_AF=0.6617;AMR_AF=0.7853;AFR_AF=0.9841;EUR_AF=0.7505;SAS_AF=0.6779;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.784944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs434273;CLNALLELEID=53711;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7680;ExAC_nontcga_ALL=0.7535;ExAC_nontcga_AFR=0.9519;ExAC_nontcga_AMR=0.7146;ExAC_nontcga_EAS=0.6830;ExAC_nontcga_FIN=0.7585;ExAC_nontcga_NFE=0.7616;ExAC_nontcga_OTH=0.7925;ExAC_nontcga_SAS=0.6740;AF=0.8067;AF_popmax=0.9513;AF_male=0.8095;AF_female=0.8032;AF_raw=0.8057;AF_afr=0.9513;AF_sas=.;AF_amr=0.7453;AF_eas=0.6432;AF_nfe=0.7590;AF_fin=0.7565;AF_asj=0.8517;AF_oth=0.7532;non_topmed_AF_popmax=0.9514;non_neuro_AF_popmax=0.9518;non_cancer_AF_popmax=.;controls_AF_popmax=0.9510;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.013707;ALLELE_END GT 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 +14 23873021 rs11850295 C T 100 PASS AC=9;AF=0.0455272;AN=214;NS=2504;DP=19448;EAS_AF=0.002;AMR_AF=0.036;AFR_AF=0.1188;EUR_AF=0.0368;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0455272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11850295;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0364;ExAC_nontcga_ALL=0.0369;ExAC_nontcga_AFR=0.1416;ExAC_nontcga_AMR=0.0251;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0105;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0075;AF=0.0484;AF_popmax=0.1124;AF_male=0.0497;AF_female=0.0467;AF_raw=0.0487;AF_afr=0.1124;AF_sas=.;AF_amr=0.0295;AF_eas=0.0006;AF_nfe=0.0299;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.1130;non_neuro_AF_popmax=0.1107;non_cancer_AF_popmax=.;controls_AF_popmax=0.1122;Kaviar_AF=0.0289194;Kaviar_AC=4471;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.029508;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23873056 rs191670514 A C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18830;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191670514;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0030;AF_popmax=0.0047;AF_male=0.0030;AF_female=0.0030;AF_raw=0.0030;AF_afr=0.0008;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0081;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.253559;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23873092 rs388914 G A 100 PASS AC=61;AF=0.159145;AN=214;NS=2504;DP=19989;EAS_AF=0.0655;AMR_AF=0.1527;AFR_AF=0.1611;EUR_AF=0.2455;SAS_AF=0.1687;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.159145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs388914;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2243;AF_popmax=0.2564;AF_male=0.2228;AF_female=0.2262;AF_raw=0.2244;AF_afr=0.2025;AF_sas=.;AF_amr=0.1533;AF_eas=0.0520;AF_nfe=0.2564;AF_fin=0.2184;AF_asj=0.3552;AF_oth=0.2302;non_topmed_AF_popmax=0.2469;non_neuro_AF_popmax=0.2536;non_cancer_AF_popmax=.;controls_AF_popmax=0.2337;Kaviar_AF=0.0366425;Kaviar_AC=5665;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23873940 rs142027794 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=21577;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon7:c.G622A:p.D208N;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142027794;CLNALLELEID=53708;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_rankscore=0.256;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.386;MutationTaster_pred=D;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.713;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_converted_rankscore=0.316;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.796;MetaSVM_rankscore=0.554;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_rankscore=0.481;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.529;M-CAP_pred=D;REVEL_score=0.076;REVEL_rankscore=0.227;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.478;CADD_raw_rankscore=0.476;CADD_phred=23.1;DANN_score=0.998;DANN_rankscore=0.904;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_rankscore=0.372;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.266;Eigen-PC-raw=-0.120;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=3.040;phyloP100way_vertebrate_rankscore=0.492;phyloP20way_mammalian=0.794;phyloP20way_mammalian_rankscore=0.322;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.909;SiPhy_29way_logOdds_rankscore=0.632;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0042;AF=0.0037;AF_popmax=0.0060;AF_male=0.0040;AF_female=0.0034;AF_raw=0.0037;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0053686;Kaviar_AC=830;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923043;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23874364 rs202054405 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19403;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.2e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.2e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23874507 rs2277473 G T 100 PASS AC=27;AF=0.0776757;AN=214;NS=2504;DP=18374;EAS_AF=0.0675;AMR_AF=0.085;AFR_AF=0.0129;EUR_AF=0.1044;SAS_AF=0.1431;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.C427A:p.R143R;1000g2015aug_all=0.0776757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277473;CLNALLELEID=53674;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1095;ExAC_nontcga_ALL=0.0949;ExAC_nontcga_AFR=0.0200;ExAC_nontcga_AMR=0.0607;ExAC_nontcga_EAS=0.0533;ExAC_nontcga_FIN=0.0920;ExAC_nontcga_NFE=0.1056;ExAC_nontcga_OTH=0.0865;ExAC_nontcga_SAS=0.1458;AF=0.0741;AF_popmax=0.0995;AF_male=0.0707;AF_female=0.0783;AF_raw=0.0741;AF_afr=0.0216;AF_sas=.;AF_amr=0.0767;AF_eas=0.0514;AF_nfe=0.0995;AF_fin=0.0910;AF_asj=0.1414;AF_oth=0.0928;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.0985;non_cancer_AF_popmax=.;controls_AF_popmax=0.0937;Kaviar_AF=0.0926443;Kaviar_AC=14323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918043;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23874523 rs2277474 C T 100 PASS AC=61;AF=0.154353;AN=214;NS=2504;DP=18207;EAS_AF=0.0675;AMR_AF=0.1513;AFR_AF=0.1384;EUR_AF=0.2485;SAS_AF=0.1708;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G411A:p.E137E;1000g2015aug_all=0.154353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277474;CLNALLELEID=53671;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2608;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.1596;ExAC_nontcga_AMR=0.1116;ExAC_nontcga_EAS=0.0533;ExAC_nontcga_FIN=0.2141;ExAC_nontcga_NFE=0.2609;ExAC_nontcga_OTH=0.2061;ExAC_nontcga_SAS=0.1859;AF=0.2180;AF_popmax=0.2605;AF_male=0.2158;AF_female=0.2209;AF_raw=0.2179;AF_afr=0.1723;AF_sas=.;AF_amr=0.1521;AF_eas=0.0515;AF_nfe=0.2605;AF_fin=0.2203;AF_asj=0.3576;AF_oth=0.2274;non_topmed_AF_popmax=0.2512;non_neuro_AF_popmax=0.2575;non_cancer_AF_popmax=.;controls_AF_popmax=0.2370;Kaviar_AF=0.209881;Kaviar_AC=32448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885635;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23874541 rs17277970 C T 100 PASS AC=9;AF=0.0571086;AN=214;NS=2504;DP=18562;EAS_AF=0.0179;AMR_AF=0.0562;AFR_AF=0.0552;EUR_AF=0.0696;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;1000g2015aug_all=0.0571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17277970;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0884;ExAC_nontcga_ALL=0.0679;ExAC_nontcga_AFR=0.0605;ExAC_nontcga_AMR=0.0389;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0.0487;ExAC_nontcga_NFE=0.0805;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0829;AF=0.0708;AF_popmax=0.0858;AF_male=0.0697;AF_female=0.0722;AF_raw=0.0709;AF_afr=0.0648;AF_sas=.;AF_amr=0.0578;AF_eas=0.0103;AF_nfe=0.0858;AF_fin=0.0480;AF_asj=0.0862;AF_oth=0.0726;non_topmed_AF_popmax=0.0860;non_neuro_AF_popmax=0.0857;non_cancer_AF_popmax=.;controls_AF_popmax=0.0843;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927291;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23874851 rs77679218 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19293;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon4:c.G330A:p.A110A;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77679218;CLNALLELEID=53648;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0001;AF=0.0048;AF_popmax=0.0072;AF_male=0.0045;AF_female=0.0052;AF_raw=0.0048;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900130;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23876216 rs7147244 G A 100 PASS AC=9;AF=0.0497204;AN=214;NS=2504;DP=18861;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.1369;EUR_AF=0.0368;SAS_AF=0.0061;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0497204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7147244;CLNALLELEID=254923;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0364;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.1391;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0289;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0062;AF=0.0546;AF_popmax=0.1343;AF_male=0.0565;AF_female=0.0522;AF_raw=0.0547;AF_afr=0.1343;AF_sas=.;AF_amr=0.0295;AF_eas=0.0006;AF_nfe=0.0301;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.1349;non_neuro_AF_popmax=0.1350;non_cancer_AF_popmax=.;controls_AF_popmax=0.1358;Kaviar_AF=0.0310992;Kaviar_AC=4808;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23876267 rs28711516 C T 100 PASS AC=9;AF=0.0567093;AN=214;NS=2504;DP=20347;EAS_AF=0.0179;AMR_AF=0.0562;AFR_AF=0.0545;EUR_AF=0.0696;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28711516;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_rankscore=0.666;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.504;MutationTaster_pred=D;MutationAssessor_score=3.905;MutationAssessor_score_rankscore=0.962;MutationAssessor_pred=H;FATHMM_score=-2.18;FATHMM_converted_rankscore=0.867;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_converted_rankscore=0.803;PROVEAN_pred=D;VEST3_score=0.158;VEST3_rankscore=0.189;MetaSVM_score=-0.339;MetaSVM_rankscore=0.739;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.560;REVEL_rankscore=0.822;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.156;CADD_raw_rankscore=0.696;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.978;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.662;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.561;Eigen-PC-raw=0.387;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=2.700;phyloP100way_vertebrate_rankscore=0.465;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.741;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.971;phastCons20way_mammalian_rankscore=0.463;SiPhy_29way_logOdds=10.491;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Myosin,_N-terminal,_SH3-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0883;ExAC_nontcga_ALL=0.0678;ExAC_nontcga_AFR=0.0604;ExAC_nontcga_AMR=0.0386;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0.0487;ExAC_nontcga_NFE=0.0805;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0828;AF=0.0705;AF_popmax=0.0854;AF_male=0.0696;AF_female=0.0716;AF_raw=0.0706;AF_afr=0.0647;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.0854;AF_fin=0.0480;AF_asj=0.0868;AF_oth=0.0709;non_topmed_AF_popmax=0.0856;non_neuro_AF_popmax=0.0855;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738408;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23876347 rs150574114 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=17878;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0144;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G86A:p.R29Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150574114;CLNALLELEID=175581;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.404;SIFT_converted_rankscore=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.71;Polyphen2_HDIV_rankscore=0.401;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.182;Polyphen2_HVAR_rankscore=0.343;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=1.99;MutationAssessor_score_rankscore=0.540;MutationAssessor_pred=M;FATHMM_score=-1.94;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-0.659;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.194;MetaLR_rankscore=0.547;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.306;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=0.995;DANN_rankscore=0.671;fathmm-MKL_coding_score=0.838;fathmm-MKL_coding_rankscore=0.426;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.104;Eigen-PC-raw=-0.038;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=1.722;phyloP100way_vertebrate_rankscore=0.374;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.395;phastCons100way_vertebrate_rankscore=0.259;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.491;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0141;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0046;AF_popmax=0.0155;AF_male=0.0049;AF_female=0.0041;AF_raw=0.0046;AF_afr=0.0155;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0155;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869857;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23881950 rs17794387 C T 100 PASS AC=19;AF=0.0636981;AN=214;NS=2504;DP=17071;EAS_AF=0.0665;AMR_AF=0.0519;AFR_AF=0.0219;EUR_AF=0.0765;SAS_AF=0.1125;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:c.*113G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0636981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17794387;CLNALLELEID=335628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0627;AF_popmax=0.0759;AF_male=0.0590;AF_female=0.0673;AF_raw=0.0627;AF_afr=0.0293;AF_sas=.;AF_amr=0.0601;AF_eas=0.0533;AF_nfe=0.0759;AF_fin=0.0846;AF_asj=0.1069;AF_oth=0.0763;non_topmed_AF_popmax=0.0778;non_neuro_AF_popmax=0.0751;non_cancer_AF_popmax=.;controls_AF_popmax=0.0786;Kaviar_AF=0.0138226;Kaviar_AC=2137;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771126;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23882043 rs45548631 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:c.*20G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45548631;CLNALLELEID=186460;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0049;AF_popmax=0.0073;AF_male=0.0041;AF_female=0.0058;AF_raw=0.0049;AF_afr=0.0018;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.0053492;Kaviar_AC=827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.786623;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23882144 rs2284651 T C 100 PASS AC=81;AF=0.384385;AN=214;NS=2504;DP=17342;EAS_AF=0.1577;AMR_AF=0.2723;AFR_AF=0.7141;EUR_AF=0.3569;SAS_AF=0.2802;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.384385;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2284651;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3705;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4373;AF_popmax=0.6933;AF_male=0.4389;AF_female=0.4352;AF_raw=0.4369;AF_afr=0.6933;AF_sas=.;AF_amr=0.2830;AF_eas=0.1375;AF_nfe=0.3720;AF_fin=0.2820;AF_asj=0.4583;AF_oth=0.3540;non_topmed_AF_popmax=0.6938;non_neuro_AF_popmax=0.6916;non_cancer_AF_popmax=.;controls_AF_popmax=0.6937;Kaviar_AF=0.0711246;Kaviar_AC=10996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.876321;ALLELE_END GT 1|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23882186 rs7149517 T G 100 PASS AC=72;AF=0.351038;AN=214;NS=2504;DP=16207;EAS_AF=0.0843;AMR_AF=0.245;AFR_AF=0.7065;EUR_AF=0.3429;SAS_AF=0.229;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7149517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4242;AF_popmax=0.6841;AF_male=0.4244;AF_female=0.4239;AF_raw=0.4239;AF_afr=0.6841;AF_sas=.;AF_amr=0.2459;AF_eas=0.0591;AF_nfe=0.3639;AF_fin=0.2725;AF_asj=0.4310;AF_oth=0.3383;non_topmed_AF_popmax=0.6845;non_neuro_AF_popmax=0.6839;non_cancer_AF_popmax=.;controls_AF_popmax=0.6846;Kaviar_AF=0.066351;Kaviar_AC=10258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.461272;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23883184 rs3729833 C T 100 PASS AC=34;AF=0.134984;AN=214;NS=2504;DP=16963;EAS_AF=0.001;AMR_AF=0.0937;AFR_AF=0.3328;EUR_AF=0.1402;SAS_AF=0.0297;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.134984;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729833;CLNALLELEID=254924;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1524;ExAC_nontcga_ALL=0.1280;ExAC_nontcga_AFR=0.3193;ExAC_nontcga_AMR=0.0612;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1057;ExAC_nontcga_NFE=0.1566;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.0430;AF=0.1912;AF_popmax=0.3187;AF_male=0.1942;AF_female=0.1873;AF_raw=0.1914;AF_afr=0.3187;AF_sas=.;AF_amr=0.0851;AF_eas=0;AF_nfe=0.1652;AF_fin=0.1103;AF_asj=0.2172;AF_oth=0.1485;non_topmed_AF_popmax=0.3194;non_neuro_AF_popmax=0.3144;non_cancer_AF_popmax=.;controls_AF_popmax=0.3128;Kaviar_AF=0.133963;Kaviar_AC=20711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.414736;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23883374 rs147219976 C T 100 PASS AC=1;AF=0.00479233;AN=214;NS=2504;DP=19555;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0106;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147219976;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0048;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0048;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23883404 rs41285540 C G 100 PASS AC=19;AF=0.0617013;AN=214;NS=2504;DP=20716;EAS_AF=0.0655;AMR_AF=0.0432;AFR_AF=0.0212;EUR_AF=0.0755;SAS_AF=0.1115;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0617013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0616;AF_popmax=0.0751;AF_male=0.0579;AF_female=0.0661;AF_raw=0.0616;AF_afr=0.0291;AF_sas=.;AF_amr=0.0519;AF_eas=0.0468;AF_nfe=0.0751;AF_fin=0.0838;AF_asj=0.1076;AF_oth=0.0754;non_topmed_AF_popmax=0.0768;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0774;Kaviar_AF=0.0134604;Kaviar_AC=2081;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23884137 rs3729832 T A 100 PASS AC=19;AF=0.116813;AN=214;NS=2504;DP=20403;EAS_AF=0.0179;AMR_AF=0.1009;AFR_AF=0.2148;EUR_AF=0.1262;SAS_AF=0.0879;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.116813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1382;AF_popmax=0.2247;AF_male=0.1384;AF_female=0.1379;AF_raw=0.1384;AF_afr=0.2247;AF_sas=.;AF_amr=0.0936;AF_eas=0.0122;AF_nfe=0.1213;AF_fin=0.0775;AF_asj=0.1069;AF_oth=0.1033;non_topmed_AF_popmax=0.2251;non_neuro_AF_popmax=0.2318;non_cancer_AF_popmax=.;controls_AF_popmax=0.2377;Kaviar_AF=0.0227423;Kaviar_AC=3516;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23884174 rs45559133 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20743;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45559133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.501e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.561e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23884524 rs45468101 C A 100 PASS AC=9;AF=0.0309505;AN=214;NS=2504;DP=20826;EAS_AF=0.0625;AMR_AF=0.0274;AFR_AF=0.0091;EUR_AF=0.0139;SAS_AF=0.0481;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45468101;CLNALLELEID=186466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0220;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0394;ExAC_nontcga_EAS=0.0770;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0332;AF=0.0123;AF_popmax=0.0681;AF_male=0.0133;AF_female=0.0111;AF_raw=0.0124;AF_afr=0.0094;AF_sas=.;AF_amr=0.0354;AF_eas=0.0681;AF_nfe=0.0074;AF_fin=0.0086;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0681;non_cancer_AF_popmax=.;controls_AF_popmax=0.0746;Kaviar_AF=0.0195664;Kaviar_AC=3025;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.581077;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45468101;CLNALLELEID=186466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0220;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0394;ExAC_nontcga_EAS=0.0770;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0332;AF=0.0123;AF_popmax=0.0681;AF_male=0.0133;AF_female=0.0111;AF_raw=0.0124;AF_afr=0.0094;AF_sas=.;AF_amr=0.0354;AF_eas=0.0681;AF_nfe=0.0074;AF_fin=0.0086;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0681;non_cancer_AF_popmax=.;controls_AF_popmax=0.0746;Kaviar_AF=0.0195664;Kaviar_AC=3025;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.581077;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23884889 rs3729830 C T 100 PASS AC=19;AF=0.117612;AN=214;NS=2504;DP=20562;EAS_AF=0.0188;AMR_AF=0.098;AFR_AF=0.2239;EUR_AF=0.1262;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729830;CLNALLELEID=52226;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1317;ExAC_nontcga_ALL=0.1035;ExAC_nontcga_AFR=0.2325;ExAC_nontcga_AMR=0.0572;ExAC_nontcga_EAS=0.0149;ExAC_nontcga_FIN=0.0745;ExAC_nontcga_NFE=0.1148;ExAC_nontcga_OTH=0.0965;ExAC_nontcga_SAS=0.0811;AF=0.1408;AF_popmax=0.2348;AF_male=0.1406;AF_female=0.1411;AF_raw=0.1409;AF_afr=0.2348;AF_sas=.;AF_amr=0.0920;AF_eas=0.0122;AF_nfe=0.1214;AF_fin=0.0771;AF_asj=0.0966;AF_oth=0.1031;non_topmed_AF_popmax=0.2356;non_neuro_AF_popmax=0.2411;non_cancer_AF_popmax=.;controls_AF_popmax=0.2479;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.956978;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23884981 rs550015662 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22840;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5014A:p.A1672T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550015662;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_rankscore=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.311;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.795;MutationAssessor_score_rankscore=0.818;MutationAssessor_pred=M;FATHMM_score=-1.68;FATHMM_converted_rankscore=0.829;FATHMM_pred=D;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.547;VEST3_rankscore=0.584;MetaSVM_score=0.038;MetaSVM_rankscore=0.830;MetaSVM_pred=D;MetaLR_score=0.574;MetaLR_rankscore=0.846;MetaLR_pred=D;M-CAP_score=0.796;M-CAP_rankscore=0.984;M-CAP_pred=D;REVEL_score=0.598;REVEL_rankscore=0.843;MutPred_score=0.565;MutPred_rankscore=0.687;CADD_raw=4.429;CADD_raw_rankscore=0.593;CADD_phred=24.2;DANN_score=0.999;DANN_rankscore=0.994;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.798;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.331;Eigen-PC-raw=0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=7.370;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=0.872;phyloP20way_mammalian_rankscore=0.381;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.163;SiPhy_29way_logOdds_rankscore=0.935;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961127;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886010 rs541315003 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18392;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541315003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886155 rs2754155 A G 100 PASS AC=3;AF=0.0111821;AN=214;NS=2504;DP=19940;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon33:c.T4566C:p.T1522T;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2754155;CLNALLELEID=52197;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0129;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0326;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0284;AF=0.0102;AF_popmax=0.0212;AF_male=0.0095;AF_female=0.0111;AF_raw=0.0102;AF_afr=0.0029;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0135;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0119339;Kaviar_AC=1845;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942853;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886264 rs3729825 C T 100 PASS AC=35;AF=0.136981;AN=214;NS=2504;DP=17407;EAS_AF=0.002;AMR_AF=0.0893;AFR_AF=0.3419;EUR_AF=0.1392;SAS_AF=0.0307;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729825;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1913;AF_popmax=0.3210;AF_male=0.1942;AF_female=0.1876;AF_raw=0.1912;AF_afr=0.3210;AF_sas=.;AF_amr=0.0837;AF_eas=0;AF_nfe=0.1640;AF_fin=0.1105;AF_asj=0.2172;AF_oth=0.1482;non_topmed_AF_popmax=0.3215;non_neuro_AF_popmax=0.3170;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.0289906;Kaviar_AC=4482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.574244;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23886409 rs3729823 G C 100 PASS AC=3;AF=0.00519169;AN=214;NS=2504;DP=17894;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4472G:p.S1491C;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729823;CLNALLELEID=52190;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_score_rankscore=0.754;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.221;VEST3_rankscore=0.271;MetaSVM_score=-0.285;MetaSVM_rankscore=0.754;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_rankscore=0.721;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.122;CADD_raw_rankscore=0.435;CADD_phred=22.6;DANN_score=0.993;DANN_rankscore=0.571;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.239;Eigen-PC-raw=0.390;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=7.788;phyloP100way_vertebrate_rankscore=0.842;phyloP20way_mammalian=0.887;phyloP20way_mammalian_rankscore=0.390;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=19.089;SiPhy_29way_logOdds_rankscore=0.932;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0115;ExAC_nontcga_ALL=0.0071;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0066;AF=0.0069;AF_popmax=0.0118;AF_male=0.0072;AF_female=0.0065;AF_raw=0.0068;AF_afr=0.0022;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0020;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.008137;Kaviar_AC=1258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951914;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886509 rs190577943 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4372G:p.Q1458E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190577943;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.215;MutationAssessor_score_rankscore=0.895;MutationAssessor_pred=M;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.435;PROVEAN_pred=N;VEST3_score=0.5;VEST3_rankscore=0.545;MetaSVM_score=0.369;MetaSVM_rankscore=0.886;MetaSVM_pred=D;MetaLR_score=0.666;MetaLR_rankscore=0.884;MetaLR_pred=D;M-CAP_score=0.555;M-CAP_rankscore=0.959;M-CAP_pred=D;REVEL_score=0.407;REVEL_rankscore=0.723;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.335;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.996;DANN_rankscore=0.760;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.901;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.873;Eigen-PC-raw=0.832;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=7.366;phyloP100way_vertebrate_rankscore=0.786;phyloP20way_mammalian=0.939;phyloP20way_mammalian_rankscore=0.529;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.465;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.421e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.940907;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886597 rs528481295 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17028;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528481295;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.113237;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23887645 rs7159367 T C 100 PASS AC=73;AF=0.351238;AN=214;NS=2504;DP=18824;EAS_AF=0.0952;AMR_AF=0.2378;AFR_AF=0.7171;EUR_AF=0.3429;SAS_AF=0.2096;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7159367;CLNALLELEID=254926;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3634;ExAC_nontcga_ALL=0.3285;ExAC_nontcga_AFR=0.6983;ExAC_nontcga_AMR=0.1672;ExAC_nontcga_EAS=0.0807;ExAC_nontcga_FIN=0.2834;ExAC_nontcga_NFE=0.3636;ExAC_nontcga_OTH=0.3207;ExAC_nontcga_SAS=0.2431;AF=0.4247;AF_popmax=0.6899;AF_male=0.4255;AF_female=0.4237;AF_raw=0.4246;AF_afr=0.6899;AF_sas=.;AF_amr=0.2435;AF_eas=0.0734;AF_nfe=0.3611;AF_fin=0.2707;AF_asj=0.4276;AF_oth=0.3380;non_topmed_AF_popmax=0.6905;non_neuro_AF_popmax=0.6891;non_cancer_AF_popmax=.;controls_AF_popmax=0.6916;Kaviar_AF=0.315158;Kaviar_AC=48724;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.429998;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888323 rs34598192 T TG 100 PASS AC=73;AF=0.337061;AN=214;NS=2504;DP=21567;EAS_AF=0.0952;AMR_AF=0.2363;AFR_AF=0.6641;EUR_AF=0.3429;SAS_AF=0.2096;AA=G|-|G|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.337061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34598192;CLNALLELEID=45302;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4088;AF_popmax=0.6369;AF_male=0.4088;AF_female=0.4088;AF_raw=0.4095;AF_afr=0.6369;AF_sas=.;AF_amr=0.2441;AF_eas=0.0701;AF_nfe=0.3603;AF_fin=0.2693;AF_asj=0.4207;AF_oth=0.3287;non_topmed_AF_popmax=0.6374;non_neuro_AF_popmax=0.6352;non_cancer_AF_popmax=.;controls_AF_popmax=0.6400;Kaviar_AF=0.0472115;Kaviar_AC=7299;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.776626;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888368 rs199919578 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20810;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199919578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.115275;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23888371 rs3729820 G A 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=20893;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729820;CLNALLELEID=52153;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0135;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0343;ExAC_nontcga_NFE=0.0161;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0062;AF=0.0143;AF_popmax=0.0204;AF_male=0.0132;AF_female=0.0157;AF_raw=0.0143;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0204;AF_fin=0.0282;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.0114811;Kaviar_AC=1775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.287787;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23888665 rs2277475 A T 100 PASS AC=73;AF=0.336661;AN=214;NS=2504;DP=16249;EAS_AF=0.0952;AMR_AF=0.2363;AFR_AF=0.6626;EUR_AF=0.3429;SAS_AF=0.2096;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277475;CLNALLELEID=254927;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3628;ExAC_nontcga_ALL=0.3086;ExAC_nontcga_AFR=0.6390;ExAC_nontcga_AMR=0.1586;ExAC_nontcga_EAS=0.0742;ExAC_nontcga_FIN=0.2644;ExAC_nontcga_NFE=0.3504;ExAC_nontcga_OTH=0.2899;ExAC_nontcga_SAS=0.2213;AF=0.4097;AF_popmax=0.6384;AF_male=0.4100;AF_female=0.4092;AF_raw=0.4099;AF_afr=0.6384;AF_sas=.;AF_amr=0.2411;AF_eas=0.0728;AF_nfe=0.3608;AF_fin=0.2702;AF_asj=0.4167;AF_oth=0.3339;non_topmed_AF_popmax=0.6388;non_neuro_AF_popmax=0.6371;non_cancer_AF_popmax=.;controls_AF_popmax=0.6408;Kaviar_AF=0.314136;Kaviar_AC=48566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.431162;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888671 rs45584435 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=16856;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45584435;CLNALLELEID=186480;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0018;AF=0.0055;AF_popmax=0.0055;AF_male=0.0054;AF_female=0.0055;AF_raw=0.0055;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0152;AF_asj=0.0103;AF_oth=0.0156;non_topmed_AF_popmax=0.0055;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0039909;Kaviar_AC=617;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.456038;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23889445 rs564923630 T TG 100 PASS AC=11;AF=0.0403355;AN=214;NS=2504;DP=15283;EAS_AF=0.0565;AMR_AF=0.0173;AFR_AF=0.0144;EUR_AF=0.0388;SAS_AF=0.0767;AA=GGG|GG|GGG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:exon27:c.3337-2->C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45504498;CLNALLELEID=52126;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0024;AF=0.0601;AF_popmax=0.0709;AF_male=0.0569;AF_female=0.0641;AF_raw=0.0611;AF_afr=0.0296;AF_sas=.;AF_amr=0.0544;AF_eas=0.0623;AF_nfe=0.0709;AF_fin=0.0821;AF_asj=0.0951;AF_oth=0.0731;non_topmed_AF_popmax=0.0711;non_neuro_AF_popmax=0.0717;non_cancer_AF_popmax=.;controls_AF_popmax=0.0730;Kaviar_AF=0.0021151;Kaviar_AC=327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911055;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23890074 rs148245126 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=20534;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148245126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0002;AF_raw=0.0005;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.334011;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23891481 rs45540831 C T 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=20060;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.G3153A:p.A1051A;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45540831;CLNALLELEID=52116;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0040;AF=0.0056;AF_popmax=0.0090;AF_male=0.0058;AF_female=0.0055;AF_raw=0.0056;AF_afr=0.0025;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0017;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0052522;Kaviar_AC=812;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944357;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +14 23891496 rs201195256 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19610;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.G3138A:p.M1046I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201195256;CLNALLELEID=230500;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.964;Polyphen2_HDIV_rankscore=0.539;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.968;Polyphen2_HVAR_rankscore=0.701;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.875;MutationAssessor_score_rankscore=0.836;MutationAssessor_pred=M;FATHMM_score=-3.15;FATHMM_converted_rankscore=0.929;FATHMM_pred=D;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.590;PROVEAN_pred=D;VEST3_score=0.688;VEST3_rankscore=0.694;MetaSVM_score=0.941;MetaSVM_rankscore=0.963;MetaSVM_pred=D;MetaLR_score=0.890;MetaLR_rankscore=0.963;MetaLR_pred=D;M-CAP_score=0.901;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.635;REVEL_rankscore=0.862;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.877;CADD_raw_rankscore=0.523;CADD_phred=23.5;DANN_score=0.998;DANN_rankscore=0.865;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.681;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.759;Eigen-PC-raw=0.707;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.64;GERP++_RS_rankscore=0.572;phyloP100way_vertebrate=6.016;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=0.917;phyloP20way_mammalian_rankscore=0.428;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.045;SiPhy_29way_logOdds_rankscore=0.892;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961235;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892819 rs145379951 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18014;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.C3036T:p.A1012A;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145379951;CLNALLELEID=52115;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0083;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.001423;Kaviar_AC=220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.935932;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892879 rs368728770 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.G2976A:p.L992L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368728770;CLNALLELEID=230501;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.952616;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892888 rs7157716 A G 100 PASS AC=73;AF=0.376398;AN=214;NS=2504;DP=18292;EAS_AF=0.1667;AMR_AF=0.2334;AFR_AF=0.7458;EUR_AF=0.3111;SAS_AF=0.2618;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;1000g2015aug_all=0.376398;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7157716;CLNALLELEID=52112;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3288;ExAC_nontcga_ALL=0.3161;ExAC_nontcga_AFR=0.7186;ExAC_nontcga_AMR=0.1847;ExAC_nontcga_EAS=0.1553;ExAC_nontcga_FIN=0.2499;ExAC_nontcga_NFE=0.3256;ExAC_nontcga_OTH=0.2925;ExAC_nontcga_SAS=0.2568;AF=0.4172;AF_popmax=0.7188;AF_male=0.4202;AF_female=0.4136;AF_raw=0.4170;AF_afr=0.7188;AF_sas=.;AF_amr=0.2530;AF_eas=0.1386;AF_nfe=0.3260;AF_fin=0.2598;AF_asj=0.4271;AF_oth=0.3318;non_topmed_AF_popmax=0.7193;non_neuro_AF_popmax=0.7150;non_cancer_AF_popmax=.;controls_AF_popmax=0.7175;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0804994|N/A|JUND(var.2)|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.945404;ALLELE_END GT 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23892948 rs188634023 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20360;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188634023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721436|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.890238;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892950 rs7157087 C T 100 PASS AC=1;AF=0.0507188;AN=214;NS=2504;DP=20435;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.1815;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7157087;CLNALLELEID=186489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0155;ExAC_nontcga_AFR=0.1667;ExAC_nontcga_AMR=0.0078;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0003;AF=0.0439;AF_popmax=0.1549;AF_male=0.0455;AF_female=0.0419;AF_raw=0.0441;AF_afr=0.1549;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.1547;non_neuro_AF_popmax=0.1563;non_cancer_AF_popmax=.;controls_AF_popmax=0.1553;Kaviar_AF=0.0145664;Kaviar_AC=2252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721436|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.890238;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23894051 rs202141173 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19428;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon22:c.G2606A:p.R869H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202141173;CLNALLELEID=175615;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=3.25;MutationAssessor_score_rankscore=0.900;MutationAssessor_pred=M;FATHMM_score=-1.74;FATHMM_converted_rankscore=0.834;FATHMM_pred=D;PROVEAN_score=-2.99;PROVEAN_converted_rankscore=0.621;PROVEAN_pred=D;VEST3_score=0.875;VEST3_rankscore=0.863;MetaSVM_score=0.590;MetaSVM_rankscore=0.918;MetaSVM_pred=D;MetaLR_score=0.738;MetaLR_rankscore=0.911;MetaLR_pred=D;M-CAP_score=0.906;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.675;REVEL_rankscore=0.882;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.365;CADD_raw_rankscore=0.950;CADD_phred=34;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.322;fathmm-MKL_coding_rankscore=0.243;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.527;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=0.918;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.673;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.767e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.956137;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23894291 rs45571436 C T 100 PASS AC=9;AF=0.0301518;AN=214;NS=2504;DP=18148;EAS_AF=0.0675;AMR_AF=0.0288;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0501;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45571436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0100;AF_popmax=0.0656;AF_male=0.0111;AF_female=0.0087;AF_raw=0.0100;AF_afr=0.0015;AF_sas=.;AF_amr=0.0354;AF_eas=0.0656;AF_nfe=0.0073;AF_fin=0.0092;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0632;non_neuro_AF_popmax=0.0656;non_cancer_AF_popmax=.;controls_AF_popmax=0.0731;Kaviar_AF=0.0030271;Kaviar_AC=468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.785330;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23895083 rs3729818 T C 100 PASS AC=29;AF=0.251997;AN=214;NS=2504;DP=20021;EAS_AF=0.0972;AMR_AF=0.1326;AFR_AF=0.5567;EUR_AF=0.1571;SAS_AF=0.182;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2500;AF_popmax=0.5188;AF_male=0.2501;AF_female=0.2498;AF_raw=0.2505;AF_afr=0.5188;AF_sas=.;AF_amr=0.1392;AF_eas=0.0751;AF_nfe=0.1542;AF_fin=0.1396;AF_asj=0.1828;AF_oth=0.1707;non_topmed_AF_popmax=0.5199;non_neuro_AF_popmax=0.5137;non_cancer_AF_popmax=.;controls_AF_popmax=0.5234;Kaviar_AF=0.0230463;Kaviar_AC=3563;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.594066;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 +14 23896823 rs199862338 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21962;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.T1859A:p.L620Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199862338;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.928;Polyphen2_HDIV_rankscore=0.496;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.935;MutationAssessor_score_rankscore=0.849;MutationAssessor_pred=M;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.965;FATHMM_pred=D;PROVEAN_score=-5.39;PROVEAN_converted_rankscore=0.850;PROVEAN_pred=D;VEST3_score=0.904;VEST3_rankscore=0.894;MetaSVM_score=1.097;MetaSVM_rankscore=0.996;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.985;MetaLR_pred=D;M-CAP_score=0.974;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.902;REVEL_rankscore=0.973;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.665;CADD_raw_rankscore=0.772;CADD_phred=26.7;DANN_score=0.996;DANN_rankscore=0.739;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.954;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.868;Eigen-PC-raw=0.782;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=8.958;phyloP100way_vertebrate_rankscore=0.929;phyloP20way_mammalian=1.192;phyloP20way_mammalian_rankscore=0.910;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.903;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=14.878;SiPhy_29way_logOdds_rankscore=0.700;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.443e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944014;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23897077 rs2069543 T C 100 PASS AC=1;AF=0.0329473;AN=214;NS=2504;DP=22600;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.115;EUR_AF=0.002;SAS_AF=0.002;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.A1605G:p.E535E;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069543;CLNALLELEID=52023;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.1131;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0303;AF_popmax=0.1075;AF_male=0.0317;AF_female=0.0286;AF_raw=0.0305;AF_afr=0.1075;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1079;non_neuro_AF_popmax=0.1064;non_cancer_AF_popmax=.;controls_AF_popmax=0.1081;Kaviar_AF=0.0099223;Kaviar_AC=1534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.953995;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23897156 rs45448096 G A 100 PASS AC=3;AF=0.00119808;AN=214;NS=2504;DP=22828;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45448096;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0019;AF_popmax=0.0047;AF_male=0.0020;AF_female=0.0017;AF_raw=0.0019;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0032;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.000414;Kaviar_AC=64;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.087525;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898105 rs555358506 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23518;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555358506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898122 rs45592847 G C 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=22663;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45592847;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0028;AF=0.0002;AF_popmax=0.0002;AF_male=0.0003;AF_female=7.183e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.095864;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898504 rs139506719 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22346;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon13:c.G1191A:p.K397K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139506719;CLNALLELEID=51999;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=3.186e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944366;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898994 rs2231126 G A 100 PASS AC=9;AF=0.15615;AN=214;NS=2504;DP=18741;EAS_AF=0.0198;AMR_AF=0.0764;AFR_AF=0.4206;EUR_AF=0.0785;SAS_AF=0.0757;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;1000g2015aug_all=0.15615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231126;CLNALLELEID=51993;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0867;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.3836;ExAC_nontcga_AMR=0.0470;ExAC_nontcga_EAS=0.0145;ExAC_nontcga_FIN=0.0543;ExAC_nontcga_NFE=0.0777;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.0745;AF=0.1576;AF_popmax=0.3824;AF_male=0.1596;AF_female=0.1551;AF_raw=0.1579;AF_afr=0.3824;AF_sas=.;AF_amr=0.0778;AF_eas=0.0116;AF_nfe=0.0788;AF_fin=0.0574;AF_asj=0.0694;AF_oth=0.0904;non_topmed_AF_popmax=0.3830;non_neuro_AF_popmax=0.3812;non_cancer_AF_popmax=.;controls_AF_popmax=0.3889;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.861634;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23899027 rs735711 C T 100 PASS AC=35;AF=0.0796725;AN=214;NS=2504;DP=17780;EAS_AF=0.001;AMR_AF=0.0706;AFR_AF=0.1362;EUR_AF=0.1402;SAS_AF=0.0286;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.G1095A:p.K365K;1000g2015aug_all=0.0796725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs735711;CLNALLELEID=51991;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1121;ExAC_nontcga_AFR=0.1428;ExAC_nontcga_AMR=0.0542;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1049;ExAC_nontcga_NFE=0.1570;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.0424;AF=0.1402;AF_popmax=0.1631;AF_male=0.1414;AF_female=0.1387;AF_raw=0.1405;AF_afr=0.1413;AF_sas=.;AF_amr=0.0743;AF_eas=0;AF_nfe=0.1631;AF_fin=0.1109;AF_asj=0.2138;AF_oth=0.1340;non_topmed_AF_popmax=0.1559;non_neuro_AF_popmax=0.1610;non_cancer_AF_popmax=.;controls_AF_popmax=0.1476;Kaviar_AF=0.118517;Kaviar_AC=18323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.919528;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23899060 rs735712 G A 100 PASS AC=19;AF=0.0638978;AN=214;NS=2504;DP=18746;EAS_AF=0.0813;AMR_AF=0.0432;AFR_AF=0.0219;EUR_AF=0.0736;SAS_AF=0.1074;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1062T:p.G354G;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs735712;CLNALLELEID=51989;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0795;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.0263;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.0644;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0775;ExAC_nontcga_OTH=0.0634;ExAC_nontcga_SAS=0.0998;AF=0.0591;AF_popmax=0.0740;AF_male=0.0564;AF_female=0.0625;AF_raw=0.0592;AF_afr=0.0291;AF_sas=.;AF_amr=0.0578;AF_eas=0.0616;AF_nfe=0.0740;AF_fin=0.0611;AF_asj=0.1076;AF_oth=0.0665;non_topmed_AF_popmax=0.0750;non_neuro_AF_popmax=0.0734;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0701091;Kaviar_AC=10839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937441;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23899725 rs3729810 A G 100 PASS AC=9;AF=0.170527;AN=214;NS=2504;DP=21464;EAS_AF=0.0179;AMR_AF=0.0749;AFR_AF=0.4705;EUR_AF=0.0845;SAS_AF=0.0787;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729810;CLNALLELEID=254931;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0886;ExAC_nontcga_ALL=0.1096;ExAC_nontcga_AFR=0.4297;ExAC_nontcga_AMR=0.0620;ExAC_nontcga_EAS=0.0161;ExAC_nontcga_FIN=0.0631;ExAC_nontcga_NFE=0.0877;ExAC_nontcga_OTH=0.0956;ExAC_nontcga_SAS=0.0835;AF=0.1687;AF_popmax=0.4159;AF_male=0.1714;AF_female=0.1654;AF_raw=0.1688;AF_afr=0.4159;AF_sas=.;AF_amr=0.0861;AF_eas=0.0115;AF_nfe=0.0811;AF_fin=0.0599;AF_asj=0.0694;AF_oth=0.1002;non_topmed_AF_popmax=0.4165;non_neuro_AF_popmax=0.4137;non_cancer_AF_popmax=.;controls_AF_popmax=0.4200;Kaviar_AF=0.097088;Kaviar_AC=15010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23899793 rs2231124 G A 100 PASS AC=8;AF=0.0145767;AN=214;NS=2504;DP=22298;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.003;EUR_AF=0.0348;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon11:c.C975T:p.D325D;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231124;CLNALLELEID=52286;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0290;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0208;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0137;ExAC_nontcga_NFE=0.0291;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0099;AF=0.0159;AF_popmax=0.0237;AF_male=0.0157;AF_female=0.0162;AF_raw=0.0159;AF_afr=0.0041;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0237;AF_fin=0.0127;AF_asj=0.0621;AF_oth=0.0202;non_topmed_AF_popmax=0.0226;non_neuro_AF_popmax=0.0241;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0210541;Kaviar_AC=3255;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923626;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23900093 rs45580436 C T 100 PASS AC=7;AF=0.0471246;AN=214;NS=2504;DP=20333;EAS_AF=0.0645;AMR_AF=0.0331;AFR_AF=0.0658;EUR_AF=0.0119;SAS_AF=0.0501;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45580436;CLNALLELEID=186506;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0526;ExAC_nontcga_AMR=0.0425;ExAC_nontcga_EAS=0.0760;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0349;AF=0.0220;AF_popmax=0.0635;AF_male=0.0235;AF_female=0.0201;AF_raw=0.0220;AF_afr=0.0465;AF_sas=.;AF_amr=0.0377;AF_eas=0.0635;AF_nfe=0.0066;AF_fin=0.0075;AF_asj=0.0207;AF_oth=0.0185;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0711;Kaviar_AF=0.0225288;Kaviar_AC=3483;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0132576::-0.719522;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.498820;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23900794 rs2069542 G A 100 PASS AC=31;AF=0.263778;AN=214;NS=2504;DP=20722;EAS_AF=0.0903;AMR_AF=0.1311;AFR_AF=0.5976;EUR_AF=0.16;SAS_AF=0.1922;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;1000g2015aug_all=0.263778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069542;CLNALLELEID=52273;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.104;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.5474;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.0681;ExAC_nontcga_FIN=0.1112;ExAC_nontcga_NFE=0.1598;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1877;AF=0.2556;AF_popmax=0.5446;AF_male=0.2574;AF_female=0.2534;AF_raw=0.2557;AF_afr=0.5446;AF_sas=.;AF_amr=0.1489;AF_eas=0.0674;AF_nfe=0.1551;AF_fin=0.1207;AF_asj=0.2034;AF_oth=0.1670;non_topmed_AF_popmax=0.5459;non_neuro_AF_popmax=0.5370;non_cancer_AF_popmax=.;controls_AF_popmax=0.5440;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.958007;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;1000g2015aug_all=0.263778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069542;CLNALLELEID=52273;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.104;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.5474;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.0681;ExAC_nontcga_FIN=0.1112;ExAC_nontcga_NFE=0.1598;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1877;AF=0.2556;AF_popmax=0.5446;AF_male=0.2574;AF_female=0.2534;AF_raw=0.2557;AF_afr=0.5446;AF_sas=.;AF_amr=0.1489;AF_eas=0.0674;AF_nfe=0.1551;AF_fin=0.1207;AF_asj=0.2034;AF_oth=0.1670;non_topmed_AF_popmax=0.5459;non_neuro_AF_popmax=0.5370;non_cancer_AF_popmax=.;controls_AF_popmax=0.5440;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.958007;ALLELE_END GT 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 +14 23901012 rs2069541 T C 100 PASS AC=7;AF=0.00579073;AN=214;NS=2504;DP=21374;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon7:c.A597G:p.A199A;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069541;CLNALLELEID=52262;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0147;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0112;AF=0.0080;AF_popmax=0.0128;AF_male=0.0087;AF_female=0.0072;AF_raw=0.0080;AF_afr=0.0026;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0120;non_topmed_AF_popmax=0.0116;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0110477;Kaviar_AC=1708;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929636;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +14 23901581 rs114763452 G T 100 PASS AC=1;AF=0.033147;AN=214;NS=2504;DP=18822;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1172;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.033147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114763452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0310;AF_popmax=0.1096;AF_male=0.0322;AF_female=0.0295;AF_raw=0.0310;AF_afr=0.1096;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1076;non_cancer_AF_popmax=.;controls_AF_popmax=0.1086;Kaviar_AF=0.0016623;Kaviar_AC=257;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23901582 rs2754165 G C 100 PASS AC=19;AF=0.061901;AN=214;NS=2504;DP=18834;EAS_AF=0.0724;AMR_AF=0.0418;AFR_AF=0.0227;EUR_AF=0.0736;SAS_AF=0.1063;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2754165;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0588;AF_popmax=0.0740;AF_male=0.0561;AF_female=0.0622;AF_raw=0.0590;AF_afr=0.0292;AF_sas=.;AF_amr=0.0590;AF_eas=0.0546;AF_nfe=0.0740;AF_fin=0.0608;AF_asj=0.1276;AF_oth=0.0610;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0734;non_cancer_AF_popmax=.;controls_AF_popmax=0.0753;Kaviar_AF=0.0017673;Kaviar_AC=46;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23902269 rs146744056 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19551;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146744056;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0011;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0013;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23902753 rs2069540 G A 100 PASS AC=103;AF=0.520367;AN=214;NS=2504;DP=22211;EAS_AF=0.4137;AMR_AF=0.4063;AFR_AF=0.6392;EUR_AF=0.4851;SAS_AF=0.5869;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069540;CLNALLELEID=52039;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4841;ExAC_nontcga_ALL=0.4878;ExAC_nontcga_AFR=0.6271;ExAC_nontcga_AMR=0.4235;ExAC_nontcga_EAS=0.3669;ExAC_nontcga_FIN=0.3972;ExAC_nontcga_NFE=0.4760;ExAC_nontcga_OTH=0.4294;ExAC_nontcga_SAS=0.5906;AF=0.5084;AF_popmax=0.6307;AF_male=0.5070;AF_female=0.5102;AF_raw=0.5083;AF_afr=0.6307;AF_sas=.;AF_amr=0.4574;AF_eas=0.3935;AF_nfe=0.4776;AF_fin=0.4170;AF_asj=0.4448;AF_oth=0.4807;non_topmed_AF_popmax=0.6312;non_neuro_AF_popmax=0.6234;non_cancer_AF_popmax=.;controls_AF_popmax=0.6321;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951153;ALLELE_END GT 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|0 0|0 0|1 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 +14 23902966 rs183245129 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19529;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183245129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.539e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.384884;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23902974 rs3729992 C A 100 PASS AC=19;AF=0.0615016;AN=214;NS=2504;DP=19315;EAS_AF=0.0724;AMR_AF=0.0418;AFR_AF=0.0227;EUR_AF=0.0726;SAS_AF=0.1053;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0615016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0778;ExAC_nontcga_ALL=0.0697;ExAC_nontcga_AFR=0.0263;ExAC_nontcga_AMR=0.0358;ExAC_nontcga_EAS=0.0544;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0787;ExAC_nontcga_OTH=0.0656;ExAC_nontcga_SAS=0.0997;AF=0.0590;AF_popmax=0.0742;AF_male=0.0564;AF_female=0.0622;AF_raw=0.0590;AF_afr=0.0292;AF_sas=.;AF_amr=0.0590;AF_eas=0.0546;AF_nfe=0.0742;AF_fin=0.0613;AF_asj=0.1276;AF_oth=0.0626;non_topmed_AF_popmax=0.0756;non_neuro_AF_popmax=0.0735;non_cancer_AF_popmax=.;controls_AF_popmax=0.0761;Kaviar_AF=0.06595;Kaviar_AC=10196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.614317;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 73614748 rs116466962 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20801;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon3:c.G21A:p.P7P,PSEN1:NM_007318:exon3:c.G21A:p.P7P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116466962;CLNALLELEID=321078;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.59e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=9.25e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483541;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon3:c.G21A:p.P7P,PSEN1:NM_007318:exon3:c.G21A:p.P7P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116466962;CLNALLELEID=321078;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.59e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=9.25e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483541;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73637794 rs140089088 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20775;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140089088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0029;AF_popmax=0.0051;AF_male=0.0026;AF_female=0.0033;AF_raw=0.0029;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0047;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.323207;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73664718 rs3025786 T C 100 PASS AC=21;AF=0.0189696;AN=214;NS=2504;DP=19217;EAS_AF=0.001;AMR_AF=0.0288;AFR_AF=0.0038;EUR_AF=0.0596;SAS_AF=0.0092;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3025786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0523;ExAC_nontcga_ALL=0.0428;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0267;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0315;ExAC_nontcga_NFE=0.0727;ExAC_nontcga_OTH=0.0307;ExAC_nontcga_SAS=0.0137;AF=0.0338;AF_popmax=0.0520;AF_male=0.0333;AF_female=0.0345;AF_raw=0.0339;AF_afr=0.0098;AF_sas=.;AF_amr=0.0413;AF_eas=0.0013;AF_nfe=0.0520;AF_fin=0.0239;AF_asj=0.0414;AF_oth=0.0396;non_topmed_AF_popmax=0.0511;non_neuro_AF_popmax=0.0515;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0361444;Kaviar_AC=5588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000501807|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.422357;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73664853 rs165932 G T 100 PASS AC=124;AF=0.671526;AN=214;NS=2504;DP=18663;EAS_AF=0.624;AMR_AF=0.6873;AFR_AF=0.7799;EUR_AF=0.5368;SAS_AF=0.7014;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.671526;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs165932;CLNALLELEID=255043;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5613;ExAC_nontcga_ALL=0.6325;ExAC_nontcga_AFR=0.7485;ExAC_nontcga_AMR=0.7147;ExAC_nontcga_EAS=0.6535;ExAC_nontcga_FIN=0.5072;ExAC_nontcga_NFE=0.5715;ExAC_nontcga_OTH=0.6107;ExAC_nontcga_SAS=0.7375;AF=0.5964;AF_popmax=0.7317;AF_male=0.6007;AF_female=0.5910;AF_raw=0.5959;AF_afr=0.7317;AF_sas=.;AF_amr=0.6958;AF_eas=0.6223;AF_nfe=0.5402;AF_fin=0.4859;AF_asj=0.5868;AF_oth=0.5498;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7293;non_cancer_AF_popmax=.;controls_AF_popmax=0.7241;Kaviar_AF=0.58791;Kaviar_AC=90892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000501807|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.910676;ALLELE_END GT 1|1 0|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 1|0 1|1 0|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 0|1 1|0 1|0 +14 73673178 rs17125721 A G 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19285;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon9:c.A953G:p.E318G,PSEN1:NM_007318:exon9:c.A941G:p.E314G;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17125721;CLNALLELEID=103986;CLNDN=Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.135;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.336;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.501;MutationTaster_pred=D;MutationAssessor_score=1.19;MutationAssessor_score_rankscore=0.302;MutationAssessor_pred=L;FATHMM_score=-6.11;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=N;VEST3_score=0.287;VEST3_rankscore=0.479;MetaSVM_score=0.747;MetaSVM_rankscore=0.938;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.956;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.476;REVEL_rankscore=0.771;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.110;CADD_raw_rankscore=0.315;CADD_phred=16.92;DANN_score=0.987;DANN_rankscore=0.438;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.917;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.170;Eigen-PC-raw=0.011;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=6.944;phyloP100way_vertebrate_rankscore=0.756;phyloP20way_mammalian=1.119;phyloP20way_mammalian_rankscore=0.881;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=15.311;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0688;dbscSNV_RF_SCORE=0.186;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0146;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0203;ExAC_nontcga_OTH=0.0210;ExAC_nontcga_SAS=0.0066;AF=0.0170;AF_popmax=0.0228;AF_male=0.0153;AF_female=0.0191;AF_raw=0.0171;AF_afr=0.0034;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0334;AF_asj=0.0069;AF_oth=0.0230;non_topmed_AF_popmax=0.0242;non_neuro_AF_popmax=0.0229;non_cancer_AF_popmax=.;controls_AF_popmax=0.0277;Kaviar_AF=0.0145406;Kaviar_AC=2248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705170;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76425507 rs199688471 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19396;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TGFB3;GeneDetail.refGene=NM_003239:c.*23G>C\x3bNM_001329939:c.*23G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199688471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000987039|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361607;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76429868 rs3917200 A G 100 PASS AC=25;AF=0.146166;AN=214;NS=2504;DP=18063;EAS_AF=0.0377;AMR_AF=0.0821;AFR_AF=0.3313;EUR_AF=0.0835;SAS_AF=0.1176;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.146166;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3917200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0766;ExAC_nontcga_ALL=0.0975;ExAC_nontcga_AFR=0.2953;ExAC_nontcga_AMR=0.0706;ExAC_nontcga_EAS=0.0327;ExAC_nontcga_FIN=0.0692;ExAC_nontcga_NFE=0.0774;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.1165;AF=0.1292;AF_popmax=0.2948;AF_male=0.1303;AF_female=0.1278;AF_raw=0.1294;AF_afr=0.2948;AF_sas=.;AF_amr=0.0825;AF_eas=0.0270;AF_nfe=0.0674;AF_fin=0.0587;AF_asj=0.1310;AF_oth=0.0904;non_topmed_AF_popmax=0.2948;non_neuro_AF_popmax=0.2917;non_cancer_AF_popmax=.;controls_AF_popmax=0.2914;Kaviar_AF=0.0936146;Kaviar_AC=14473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000987041|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76432117 rs4252338 GC G 100 PASS AC=25;AF=0.123203;AN=214;NS=2504;DP=21150;EAS_AF=0.0367;AMR_AF=0.0576;AFR_AF=0.2587;EUR_AF=0.0805;SAS_AF=0.1196;AA=CC|CC|C|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.123203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3917188;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1127;AF_popmax=0.2488;AF_male=0.1147;AF_female=0.1102;AF_raw=0.1133;AF_afr=0.2488;AF_sas=.;AF_amr=0.0626;AF_eas=0.0263;AF_nfe=0.0629;AF_fin=0.0556;AF_asj=0.1172;AF_oth=0.0766;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2438;non_cancer_AF_popmax=.;controls_AF_popmax=0.2461;Kaviar_AF=0.0127171;Kaviar_AC=331;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.988896;ALLELE_END GT 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76446886 rs375232060 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17927;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TGFB3:NM_001329938:exon1:c.C351T:p.H117H,TGFB3:NM_003239:exon1:c.C351T:p.H117H,TGFB3:NM_001329939:exon2:c.C351T:p.H117H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375232060;CLNALLELEID=376215;CLNDN=Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0238;dbscSNV_RF_SCORE=0.124;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.481e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071002|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.495395;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +14 90863452 rs532682698 G T 100 PASS AC=2;AF=0.00519169;AN=214;NS=2504;DP=7680;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0166;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-123G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532682698;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0042;AF_popmax=0.0100;AF_male=0.0035;AF_female=0.0051;AF_raw=0.0042;AF_afr=0.0100;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0020;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0121;Kaviar_AF=0.0032273;Kaviar_AC=84;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1168103|N/A|TFAP2C|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.928977;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 90863488 rs557851193 C CA 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=7937;EAS_AF=0.002;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=?|-|A|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-87_-86insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557851193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0071;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0014;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0.0071;AF_nfe=0.0010;AF_fin=0.0006;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90863489 rs12886342;rs533724156 G A,GCA 100 PASS AC=183,2;AF=0.716054,0.000998403;AN=214;NS=2504;DP=8019;EAS_AF=0.8046,0.002;AMR_AF=0.7536,0.0014;AFR_AF=0.4735,0;EUR_AF=0.8787,0.002;SAS_AF=0.7587,0;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.716054;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12886342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8852;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7799;AF_popmax=0.8786;AF_male=0.7789;AF_female=0.7813;AF_raw=0.7791;AF_afr=0.5547;AF_sas=.;AF_amr=0.7905;AF_eas=0.8178;AF_nfe=0.8786;AF_fin=0.8585;AF_asj=0.8379;AF_oth=0.8521;non_topmed_AF_popmax=0.8769;non_neuro_AF_popmax=0.8783;non_cancer_AF_popmax=.;controls_AF_popmax=0.8790;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86_-85insCA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533724156;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0071;AF_male=0.0011;AF_female=0.0007;AF_raw=0.0011;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0071;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0073;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END GT 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 2|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|2 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +14 90866346 rs2268433 C T 100 PASS AC=121;AF=0.484425;AN=214;NS=2504;DP=19036;EAS_AF=0.7748;AMR_AF=0.4726;AFR_AF=0.1392;EUR_AF=0.6471;SAS_AF=0.4928;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.484425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2268433;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6245;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5084;AF_popmax=0.7783;AF_male=0.5093;AF_female=0.5073;AF_raw=0.5082;AF_afr=0.2153;AF_sas=.;AF_amr=0.5284;AF_eas=0.7783;AF_nfe=0.6183;AF_fin=0.5949;AF_asj=0.6690;AF_oth=0.5746;non_topmed_AF_popmax=0.7787;non_neuro_AF_popmax=0.7783;non_cancer_AF_popmax=.;controls_AF_popmax=0.7851;Kaviar_AF=0.117618;Kaviar_AC=18184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|1 0|0 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|0 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 +14 90866350 rs186974653 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18964;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186974653;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.179e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870167 rs147717934 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870689 rs148816119 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23112;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148816119;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.786e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.877e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870740 rs143503733 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870909 rs148018707 T G 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=20529;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148018707;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0067;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0035;AF_popmax=0.0058;AF_male=0.0031;AF_female=0.0040;AF_raw=0.0035;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0039327;Kaviar_AC=608;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35083378 rs2307493 A G 100 PASS AC=2;AF=0.0285543;AN=214;NS=2504;DP=17980;EAS_AF=0.002;AMR_AF=0.0115;AFR_AF=0.0976;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTC1:NM_005159:exon6:c.T927C:p.P309P;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2307493;CLNALLELEID=54361;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0758;ExAC_nontcga_AMR=0.0118;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0012;AF=0.0215;AF_popmax=0.0683;AF_male=0.0227;AF_female=0.0200;AF_raw=0.0215;AF_afr=0.0683;AF_sas=.;AF_amr=0.0142;AF_eas=0.0019;AF_nfe=0.0037;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0686;non_neuro_AF_popmax=0.0664;non_cancer_AF_popmax=.;controls_AF_popmax=0.0684;Kaviar_AF=0.0097088;Kaviar_AC=1501;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.720799;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35083508 rs572654192 TCACA T 100 PASS AC=65;AF=0.244808;AN=214;NS=2504;DP=15400;EAS_AF=0.0843;AMR_AF=0.2176;AFR_AF=0.3169;EUR_AF=0.326;SAS_AF=0.2485;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.244808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572654192;CLNALLELEID=322319;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1361;AF_popmax=0.1316;AF_male=0.1326;AF_female=0.1406;AF_raw=0.1295;AF_afr=0.1244;AF_sas=.;AF_amr=0.1126;AF_eas=0.0192;AF_nfe=0.1316;AF_fin=0.2297;AF_asj=0.1607;AF_oth=0.1621;non_topmed_AF_popmax=0.1351;non_neuro_AF_popmax=0.1319;non_cancer_AF_popmax=.;controls_AF_popmax=0.1399;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 +15 35084543 rs530841804 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530841804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530841804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35084562 rs377217263 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22114;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377217263;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.184e-05;AF_popmax=6.482e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48703130 rs363849 T C 100 PASS AC=1;AF=0.019369;AN=214;NS=2504;DP=19310;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0628;EUR_AF=0.002;SAS_AF=0.0051;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FBN1;GeneDetail.refGene=NM_000138:c.*57A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363849;CLNALLELEID=339277;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0188;AF_popmax=0.0628;AF_male=0.0177;AF_female=0.0202;AF_raw=0.0188;AF_afr=0.0628;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0647;non_cancer_AF_popmax=.;controls_AF_popmax=0.0642;Kaviar_AF=0.001326;Kaviar_AC=205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000086|hsa-miR-29a-3p|Experimental,MIMAT0000100|hsa-miR-29b-3p|Experimental,MIMAT0000681|hsa-miR-29c-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.538168;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48703579 rs200822151 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20648;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200822151;CLNALLELEID=340726;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.046;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.589402;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48712876 rs363838 T G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48713959 rs73390302 A T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718045 rs200805623 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718098 rs139122925 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718120 rs142509247 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142509247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.972348;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48719701 rs978558 G T 100 PASS AC=2;AF=0.0489217;AN=214;NS=2504;DP=18898;EAS_AF=0.0962;AMR_AF=0.0173;AFR_AF=0.0408;EUR_AF=0.0099;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0489217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs978558;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0208;AF_popmax=0.0565;AF_male=0.0216;AF_female=0.0197;AF_raw=0.0207;AF_afr=0.0381;AF_sas=.;AF_amr=0.0436;AF_eas=0.0565;AF_nfe=0.0080;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0535;Kaviar_AF=0.0042496;Kaviar_AC=657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48720526 rs363832 G C 100 PASS AC=169;AF=0.65595;AN=214;NS=2504;DP=19629;EAS_AF=0.6508;AMR_AF=0.7363;AFR_AF=0.4221;EUR_AF=0.7584;SAS_AF=0.8149;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.65595;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363832;CLNALLELEID=141015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7771;ExAC_nontcga_ALL=0.7396;ExAC_nontcga_AFR=0.4695;ExAC_nontcga_AMR=0.7993;ExAC_nontcga_EAS=0.6451;ExAC_nontcga_FIN=0.7537;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7608;ExAC_nontcga_SAS=0.8063;AF=0.6721;AF_popmax=0.7889;AF_male=0.6729;AF_female=0.6712;AF_raw=0.6719;AF_afr=0.4765;AF_sas=.;AF_amr=0.7889;AF_eas=0.6287;AF_nfe=0.7602;AF_fin=0.7431;AF_asj=0.7621;AF_oth=0.7081;non_topmed_AF_popmax=0.7901;non_neuro_AF_popmax=0.7762;non_cancer_AF_popmax=.;controls_AF_popmax=0.8130;Kaviar_AF=0.731129;Kaviar_AC=113034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.687960;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 +15 48720652 rs363830 C T 100 PASS AC=2;AF=0.0509185;AN=214;NS=2504;DP=18550;EAS_AF=0.0962;AMR_AF=0.0231;AFR_AF=0.0416;EUR_AF=0.0149;SAS_AF=0.0736;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363830;CLNALLELEID=51583;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0414;ExAC_nontcga_AMR=0.0603;ExAC_nontcga_EAS=0.0781;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0412;AF=0.0242;AF_popmax=0.0558;AF_male=0.0252;AF_female=0.0228;AF_raw=0.0242;AF_afr=0.0394;AF_sas=.;AF_amr=0.0436;AF_eas=0.0558;AF_nfe=0.0135;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0221;non_topmed_AF_popmax=0.0559;non_neuro_AF_popmax=0.0558;non_cancer_AF_popmax=.;controls_AF_popmax=0.0525;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778812;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48722884 rs363836 A G 100 PASS AC=2;AF=0.0511182;AN=214;NS=2504;DP=20401;EAS_AF=0.0972;AMR_AF=0.0231;AFR_AF=0.0416;EUR_AF=0.0149;SAS_AF=0.0736;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;1000g2015aug_all=0.0511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363836;CLNALLELEID=51582;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0414;ExAC_nontcga_AMR=0.0605;ExAC_nontcga_EAS=0.0781;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0413;AF=0.0242;AF_popmax=0.0560;AF_male=0.0253;AF_female=0.0228;AF_raw=0.0243;AF_afr=0.0394;AF_sas=.;AF_amr=0.0436;AF_eas=0.0560;AF_nfe=0.0135;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0221;non_topmed_AF_popmax=0.0561;non_neuro_AF_popmax=0.0560;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.680571;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48722887 rs201226058 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20389;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6852C:p.P2284P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201226058;CLNALLELEID=374538;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.523e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.680571;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48725121 rs363824 T G 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=20744;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon55:c.A6681C:p.S2227S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363824;CLNALLELEID=51578;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0010;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765798;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48725206 rs363823 T A 100 PASS AC=2;AF=0.0507188;AN=214;NS=2504;DP=19812;EAS_AF=0.0972;AMR_AF=0.0231;AFR_AF=0.0401;EUR_AF=0.0149;SAS_AF=0.0736;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363823;CLNALLELEID=255253;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0413;ExAC_nontcga_AMR=0.0604;ExAC_nontcga_EAS=0.0783;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0413;AF=0.0243;AF_popmax=0.0565;AF_male=0.0253;AF_female=0.0230;AF_raw=0.0242;AF_afr=0.0395;AF_sas=.;AF_amr=0.0436;AF_eas=0.0565;AF_nfe=0.0135;AF_fin=0.0171;AF_asj=0.0034;AF_oth=0.0222;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0285313;Kaviar_AC=4411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.551345;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48726805 rs151112569 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon54:c.T6602G:p.M2201R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151112569;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.267;SIFT_converted_rankscore=0.162;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_rankscore=0.546;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.978;Polyphen2_HVAR_rankscore=0.725;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-2.19;FATHMM_converted_rankscore=0.868;FATHMM_pred=D;PROVEAN_score=-3.58;PROVEAN_converted_rankscore=0.691;PROVEAN_pred=D;VEST3_score=0.93;VEST3_rankscore=0.923;MetaSVM_score=-0.035;MetaSVM_rankscore=0.815;MetaSVM_pred=T;MetaLR_score=0.520;MetaLR_rankscore=0.821;MetaLR_pred=D;M-CAP_score=0.378;M-CAP_rankscore=0.929;M-CAP_pred=D;REVEL_score=0.731;REVEL_rankscore=0.907;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.877;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.985;DANN_rankscore=0.423;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.971;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.451;Eigen-PC-raw=0.577;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.302;SiPhy_29way_logOdds_rankscore=0.826;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|EGF-like,_conserved_site|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.793973;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48729619 rs561714171 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17335;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561714171;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.58e-06;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.683528;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48729648 rs2042746 T C 100 PASS AC=200;AF=0.930112;AN=214;NS=2504;DP=18126;EAS_AF=0.9762;AMR_AF=0.9078;AFR_AF=0.9486;EUR_AF=0.8708;SAS_AF=0.9346;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.930112;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2042746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8866;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8838;AF_popmax=0.9628;AF_male=0.8884;AF_female=0.8779;AF_raw=0.8837;AF_afr=0.9384;AF_sas=.;AF_amr=0.9480;AF_eas=0.9628;AF_nfe=0.8595;AF_fin=0.8120;AF_asj=0.9414;AF_oth=0.8410;non_topmed_AF_popmax=0.9632;non_neuro_AF_popmax=0.9628;non_cancer_AF_popmax=.;controls_AF_popmax=0.9618;Kaviar_AF=0.173478;Kaviar_AC=26820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.276548;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 +15 48729950 rs527990744 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527990744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.557e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.050638;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48736684 rs2303502 A T 100 PASS AC=168;AF=0.620807;AN=214;NS=2504;DP=18150;EAS_AF=0.5982;AMR_AF=0.7233;AFR_AF=0.4002;EUR_AF=0.7455;SAS_AF=0.7413;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.620807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6569;AF_popmax=0.7442;AF_male=0.6569;AF_female=0.6569;AF_raw=0.6567;AF_afr=0.4664;AF_sas=.;AF_amr=0.7405;AF_eas=0.6143;AF_nfe=0.7442;AF_fin=0.7263;AF_asj=0.7586;AF_oth=0.6900;non_topmed_AF_popmax=0.7425;non_neuro_AF_popmax=0.7424;non_cancer_AF_popmax=.;controls_AF_popmax=0.7623;Kaviar_AF=0.141279;Kaviar_AC=21842;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 +15 48739082 rs363800 C A 100 PASS AC=2;AF=0.0425319;AN=214;NS=2504;DP=19271;EAS_AF=0.0982;AMR_AF=0.0216;AFR_AF=0.0076;EUR_AF=0.0159;SAS_AF=0.0746;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363800;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0176;AF_popmax=0.0583;AF_male=0.0182;AF_female=0.0168;AF_raw=0.0176;AF_afr=0.0153;AF_sas=.;AF_amr=0.0425;AF_eas=0.0583;AF_nfe=0.0136;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0203;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0583;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0047283;Kaviar_AC=731;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.058891;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48740907 rs571100874 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48740936 rs55649234 G GA 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48744726 rs189437505 G A 100 PASS 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GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48744908 rs142758852 AAGG A 100 PASS AC=2;AF=0.0405351;AN=214;NS=2504;DP=19439;EAS_AF=0.0982;AMR_AF=0.0159;AFR_AF=0.0068;EUR_AF=0.0109;SAS_AF=0.0746;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0405351;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142758852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0102;ExAC_nontcga_ALL=0.0258;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0580;ExAC_nontcga_EAS=0.0806;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0412;AF=0.0141;AF_popmax=0.0584;AF_male=0.0145;AF_female=0.0135;AF_raw=0.0140;AF_afr=0.0137;AF_sas=.;AF_amr=0.0426;AF_eas=0.0584;AF_nfe=0.0082;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0165;non_topmed_AF_popmax=0.0586;non_neuro_AF_popmax=0.0584;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000515051|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.568935,98.510825;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48748913 rs140649 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17955;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon44:c.G5343A:p.V1781V;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140649;CLNALLELEID=51551;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0018;AF=0.0054;AF_popmax=0.0093;AF_male=0.0056;AF_female=0.0052;AF_raw=0.0054;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0020;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778744;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755434 rs199644881 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20266;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon42:c.T5069G:p.M1690R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199644881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.255;Polyphen2_HDIV_rankscore=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.243;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.615;MutationAssessor_score_rankscore=0.157;MutationAssessor_pred=N;FATHMM_score=-3.04;FATHMM_converted_rankscore=0.924;FATHMM_pred=D;PROVEAN_score=-5.2;PROVEAN_converted_rankscore=0.837;PROVEAN_pred=D;VEST3_score=0.958;VEST3_rankscore=0.956;MetaSVM_score=0.427;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.729;MetaLR_rankscore=0.907;MetaLR_pred=D;M-CAP_score=0.366;M-CAP_rankscore=0.927;M-CAP_pred=D;REVEL_score=0.734;REVEL_rankscore=0.908;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.356;CADD_raw_rankscore=0.583;CADD_phred=24.1;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.930;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.378;Eigen-PC-raw=0.517;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.084;SiPhy_29way_logOdds_rankscore=0.807;Interpro_domain=TB_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.763430;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755450 rs34816032 T TA 100 PASS AC=2;AF=0.0477236;AN=214;NS=2504;DP=20380;EAS_AF=0.0982;AMR_AF=0.0187;AFR_AF=0.0325;EUR_AF=0.0109;SAS_AF=0.0746;AA=?|AAAAAAAA|AAAAAAAAA|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833018;CLNALLELEID=175984;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0274;ExAC_nontcga_AFR=0.0316;ExAC_nontcga_AMR=0.0589;ExAC_nontcga_EAS=0.0803;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0410;AF=0.0196;AF_popmax=0.0589;AF_male=0.0200;AF_female=0.0191;AF_raw=0.0195;AF_afr=0.0320;AF_sas=.;AF_amr=0.0474;AF_eas=0.0589;AF_nfe=0.0084;AF_fin=0.0148;AF_asj=0.0035;AF_oth=0.0206;non_topmed_AF_popmax=0.0590;non_neuro_AF_popmax=0.0589;non_cancer_AF_popmax=.;controls_AF_popmax=0.0574;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.977445;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755472 rs77105137 G A 100 PASS AC=28;AF=0.0467252;AN=214;NS=2504;DP=20358;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.0386;EUR_AF=0.1014;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0467252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77105137;CLNALLELEID=255262;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0932;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0430;ExAC_nontcga_AMR=0.0456;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0599;ExAC_nontcga_NFE=0.0927;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0356;AF=0.0699;AF_popmax=0.0926;AF_male=0.0689;AF_female=0.0713;AF_raw=0.0699;AF_afr=0.0396;AF_sas=.;AF_amr=0.0696;AF_eas=0;AF_nfe=0.0926;AF_fin=0.0647;AF_asj=0.1690;AF_oth=0.0818;non_topmed_AF_popmax=0.0917;non_neuro_AF_popmax=0.0935;non_cancer_AF_popmax=.;controls_AF_popmax=0.0853;Kaviar_AF=0.0682074;Kaviar_AC=10545;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.104167::0.563362;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.955257;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48756163 rs141925790 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48756199 rs151180372 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48758132 rs55694948 A C 100 PASS AC=36;AF=0.207268;AN=214;NS=2504;DP=19256;EAS_AF=0.2123;AMR_AF=0.1527;AFR_AF=0.2776;EUR_AF=0.163;SAS_AF=0.1912;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207268;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55694948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1794;AF_popmax=0.2445;AF_male=0.1813;AF_female=0.1770;AF_raw=0.1796;AF_afr=0.2445;AF_sas=.;AF_amr=0.1592;AF_eas=0.1968;AF_nfe=0.1505;AF_fin=0.1448;AF_asj=0.2241;AF_oth=0.1572;non_topmed_AF_popmax=0.2448;non_neuro_AF_popmax=0.2429;non_cancer_AF_popmax=.;controls_AF_popmax=0.2434;Kaviar_AF=0.030323;Kaviar_AC=4688;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.181818::0.626048;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48760067 rs2279233 G A 100 PASS AC=2;AF=0.047524;AN=214;NS=2504;DP=19866;EAS_AF=0.0982;AMR_AF=0.0187;AFR_AF=0.0318;EUR_AF=0.0109;SAS_AF=0.0746;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.047524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2279233;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0193;AF_popmax=0.0580;AF_male=0.0197;AF_female=0.0189;AF_raw=0.0194;AF_afr=0.0318;AF_sas=.;AF_amr=0.0472;AF_eas=0.0580;AF_nfe=0.0082;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0202;non_topmed_AF_popmax=0.0581;non_neuro_AF_popmax=0.0580;non_cancer_AF_popmax=.;controls_AF_popmax=0.0569;Kaviar_AF=0.0042367;Kaviar_AC=655;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.051856;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760087 rs200806415 G C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760750 rs55840194 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760805 rs188752564 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18308;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188752564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0037;AF_male=0.0024;AF_female=0.0034;AF_raw=0.0029;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0037;AF_fin=0.0058;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.378979;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48763008 rs75227249 A T 100 PASS AC=15;AF=0.0682907;AN=214;NS=2504;DP=18129;EAS_AF=0.0248;AMR_AF=0.0951;AFR_AF=0.0416;EUR_AF=0.1302;SAS_AF=0.0665;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0682907;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75227249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1103;AF_popmax=0.1406;AF_male=0.1058;AF_female=0.1159;AF_raw=0.1102;AF_afr=0.0397;AF_sas=.;AF_amr=0.0531;AF_eas=0.0372;AF_nfe=0.1406;AF_fin=0.1885;AF_asj=0.0590;AF_oth=0.1572;non_topmed_AF_popmax=0.1482;non_neuro_AF_popmax=0.1415;non_cancer_AF_popmax=.;controls_AF_popmax=0.1718;Kaviar_AF=0.0169144;Kaviar_AC=2615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48764709 rs151321101 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17428;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151321101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.753779;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48764942 rs16960981 A G 100 PASS AC=2;AF=0.110024;AN=214;NS=2504;DP=20511;EAS_AF=0.3323;AMR_AF=0.085;AFR_AF=0.0182;EUR_AF=0.0189;SAS_AF=0.1166;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.110024;GWAS=rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295;ORegAnno_REGULATORY_P=rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295;avsnp150=rs16960981;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0402;AF_popmax=0.3164;AF_male=0.0424;AF_female=0.0375;AF_raw=0.0403;AF_afr=0.0259;AF_sas=.;AF_amr=0.1191;AF_eas=0.3164;AF_nfe=0.0194;AF_fin=0.0282;AF_asj=0.0138;AF_oth=0.0395;non_topmed_AF_popmax=0.3157;non_neuro_AF_popmax=0.3164;non_cancer_AF_popmax=.;controls_AF_popmax=0.3279;Kaviar_AF=0.0099999;Kaviar_AC=1546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48766737 rs202192505 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon33:c.A4075G:p.I1359V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202192505;CLNALLELEID=510593;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.343;SIFT_converted_rankscore=0.126;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.292;LRT_pred=N;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=D;MutationAssessor_score=0.79;MutationAssessor_score_rankscore=0.196;MutationAssessor_pred=N;FATHMM_score=-2.21;FATHMM_converted_rankscore=0.870;FATHMM_pred=D;PROVEAN_score=-0.5;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=-0.912;MetaSVM_rankscore=0.467;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_rankscore=0.660;MetaLR_pred=T;M-CAP_score=0.034;M-CAP_rankscore=0.554;M-CAP_pred=D;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.242;CADD_raw_rankscore=0.117;CADD_phred=5.120;DANN_score=0.805;DANN_rankscore=0.128;fathmm-MKL_coding_score=0.763;fathmm-MKL_coding_rankscore=0.371;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.938;Eigen-PC-raw=-0.791;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.302;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-0.526;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=0.190;phyloP100way_vertebrate_rankscore=0.167;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=8.958;SiPhy_29way_logOdds_rankscore=0.348;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|EGF-like,_conserved_site|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1416737|N/A|E2F1|PAZAR,OREG1274672|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.724406;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779200 rs72132658 AATAAC A 100 PASS AC=47;AF=0.301318;AN=214;NS=2504;DP=17471;EAS_AF=0.3512;AMR_AF=0.255;AFR_AF=0.3729;EUR_AF=0.2525;SAS_AF=0.2362;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.301318;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138563627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2637;AF_popmax=0.3312;AF_male=0.2630;AF_female=0.2645;AF_raw=0.2673;AF_afr=0.2820;AF_sas=.;AF_amr=0.2311;AF_eas=0.3312;AF_nfe=0.2470;AF_fin=0.2655;AF_asj=0.2238;AF_oth=0.2877;non_topmed_AF_popmax=0.3296;non_neuro_AF_popmax=0.3312;non_cancer_AF_popmax=.;controls_AF_popmax=0.3462;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 +15 48779231 rs55651064;rs72158035 GTAAAA ATAAAA,G 100 PASS AC=1,16;AF=0.0235623,0.196685;AN=214;NS=2504;DP=17890;EAS_AF=0,0.3512;AMR_AF=0.0115,0.1787;AFR_AF=0.0764,0.1611;EUR_AF=0.002,0.1461;SAS_AF=0.0072,0.1503;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0235623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55651064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0391;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0024;AF=0.0166;AF_popmax=0.0546;AF_male=0.0160;AF_female=0.0174;AF_raw=0.0182;AF_afr=0.0546;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0003;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0587;non_cancer_AF_popmax=.;controls_AF_popmax=0.0592;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.196685;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72158035;CLNALLELEID=255266;CLNDN=Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1656;ExAC_nontcga_ALL=0.1543;ExAC_nontcga_AFR=0.2119;ExAC_nontcga_AMR=0.2741;ExAC_nontcga_EAS=0.3802;ExAC_nontcga_FIN=0.3071;ExAC_nontcga_NFE=0.1299;ExAC_nontcga_OTH=0.1825;ExAC_nontcga_SAS=0.1404;AF=0.1719;AF_popmax=0.3279;AF_male=0.1710;AF_female=0.1730;AF_raw=0.1748;AF_afr=0.1698;AF_sas=.;AF_amr=0.1614;AF_eas=0.3279;AF_nfe=0.1535;AF_fin=0.1958;AF_asj=0.0625;AF_oth=0.1960;non_topmed_AF_popmax=0.3262;non_neuro_AF_popmax=0.3279;non_cancer_AF_popmax=.;controls_AF_popmax=0.3415;Kaviar_AF=0.0082017;Kaviar_AC=1268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 2|2 0|0 2|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 2|0 0|0 0|0 0|2 0|0 0|0 0|2 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|2 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779402 rs11853943 C T 100 PASS AC=16;AF=0.196486;AN=214;NS=2504;DP=15025;EAS_AF=0.3512;AMR_AF=0.1787;AFR_AF=0.1604;EUR_AF=0.1461;SAS_AF=0.1503;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11853943;CLNALLELEID=141008;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.1390;ExAC_nontcga_ALL=0.1741;ExAC_nontcga_AFR=0.1698;ExAC_nontcga_AMR=0.1956;ExAC_nontcga_EAS=0.3551;ExAC_nontcga_FIN=0.2033;ExAC_nontcga_NFE=0.1510;ExAC_nontcga_OTH=0.1744;ExAC_nontcga_SAS=0.1399;AF=0.1754;AF_popmax=0.3333;AF_male=0.1742;AF_female=0.1770;AF_raw=0.1758;AF_afr=0.1703;AF_sas=.;AF_amr=0.1647;AF_eas=0.3333;AF_nfe=0.1556;AF_fin=0.2089;AF_asj=0.0621;AF_oth=0.2044;non_topmed_AF_popmax=0.3318;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.3476;Kaviar_AF=0.166641;Kaviar_AC=25763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.442579;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779550 rs2228241 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18969;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon28:c.C3422T:p.P1141L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228241;CLNALLELEID=51504;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.575;MutationAssessor_score_rankscore=0.398;MutationAssessor_pred=L;FATHMM_score=-2.46;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-8.85;PROVEAN_converted_rankscore=0.979;PROVEAN_pred=D;VEST3_score=0.727;VEST3_rankscore=0.726;MetaSVM_score=0.580;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.790;MetaLR_rankscore=0.929;MetaLR_pred=D;M-CAP_score=0.105;M-CAP_rankscore=0.781;M-CAP_pred=D;REVEL_score=0.694;REVEL_rankscore=0.891;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.283;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.944;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.784;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=9.356;phyloP100way_vertebrate_rankscore=0.965;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.827;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=19.208;SiPhy_29way_logOdds_rankscore=0.937;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=6.48e-05;AF_male=0.0003;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0.0207;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.597762;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779604 rs201336778 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19423;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon28:c.T3368A:p.L1123Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201336778;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.165;MutationAssessor_score_rankscore=0.299;MutationAssessor_pred=L;FATHMM_score=-2.22;FATHMM_converted_rankscore=0.871;FATHMM_pred=D;PROVEAN_score=-5.07;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=D;VEST3_score=0.855;VEST3_rankscore=0.842;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.745;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=0.300;M-CAP_rankscore=0.909;M-CAP_pred=D;REVEL_score=0.815;REVEL_rankscore=0.941;MutPred_score=0.618;MutPred_rankscore=0.753;CADD_raw=5.592;CADD_raw_rankscore=0.761;CADD_phred=26.5;DANN_score=0.995;DANN_rankscore=0.688;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.940;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.691;Eigen-PC-raw=0.662;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.928;phyloP100way_vertebrate_rankscore=0.755;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.448;phastCons20way_mammalian_rankscore=0.262;SiPhy_29way_logOdds=15.442;SiPhy_29way_logOdds_rankscore=0.748;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.638421;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779649 rs200496779 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200496779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.188e-05;AF_popmax=.;AF_male=0;AF_female=7.19e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.792642;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48780504 rs143836403 TTAAAGA T 100 PASS AC=28;AF=0.048722;AN=214;NS=2504;DP=22704;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.0469;EUR_AF=0.1014;SAS_AF=0.0409;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143836403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0700;AF_popmax=0.0909;AF_male=0.0684;AF_female=0.0721;AF_raw=0.0705;AF_afr=0.0432;AF_sas=.;AF_amr=0.0696;AF_eas=0;AF_nfe=0.0909;AF_fin=0.0648;AF_asj=0.1655;AF_oth=0.0810;non_topmed_AF_popmax=0.0900;non_neuro_AF_popmax=0.0916;non_cancer_AF_popmax=.;controls_AF_popmax=0.0838;Kaviar_AF=0.0137544;Kaviar_AC=358;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.629521;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143836403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0700;AF_popmax=0.0909;AF_male=0.0684;AF_female=0.0721;AF_raw=0.0705;AF_afr=0.0432;AF_sas=.;AF_amr=0.0696;AF_eas=0;AF_nfe=0.0909;AF_fin=0.0648;AF_asj=0.1655;AF_oth=0.0810;non_topmed_AF_popmax=0.0900;non_neuro_AF_popmax=0.0916;non_cancer_AF_popmax=.;controls_AF_popmax=0.0838;Kaviar_AF=0.0137544;Kaviar_AC=358;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.629521;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48780551 rs532545840 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20408;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532545840;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.750919;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48782072 rs111801777 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48782151 rs150126098 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16948;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.C2979T:p.C993C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150126098;CLNALLELEID=339286;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=6.485e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.638291;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787360 rs202163602 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14811;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon22:c.C2637T:p.L879L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202163602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.946e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.538e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718617;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787523 rs140273313 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787842 rs149403312 TA T 100 PASS AC=2;AF=0.0197684;AN=214;NS=2504;DP=18238;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0635;EUR_AF=0.003;SAS_AF=0.0051;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149403312;CLNALLELEID=44712;CLNDN=Marfan_syndrome;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0170;AF_popmax=0.0564;AF_male=0.0161;AF_female=0.0182;AF_raw=0.0171;AF_afr=0.0564;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0563;non_neuro_AF_popmax=0.0617;non_cancer_AF_popmax=.;controls_AF_popmax=0.0626;Kaviar_AF=0.0009605;Kaviar_AC=25;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.169305;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48788436 rs201446948 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16601;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201446948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.555e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.182e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.104239;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48789634 rs140605 T C 100 PASS AC=49;AF=0.378594;AN=214;NS=2504;DP=19155;EAS_AF=0.3522;AMR_AF=0.268;AFR_AF=0.6536;EUR_AF=0.2555;SAS_AF=0.2393;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.378594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140605;CLNALLELEID=255271;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2427;ExAC_nontcga_ALL=0.2958;ExAC_nontcga_AFR=0.6062;ExAC_nontcga_AMR=0.2613;ExAC_nontcga_EAS=0.3787;ExAC_nontcga_FIN=0.2713;ExAC_nontcga_NFE=0.2643;ExAC_nontcga_OTH=0.2748;ExAC_nontcga_SAS=0.2306;AF=0.3505;AF_popmax=0.5778;AF_male=0.3517;AF_female=0.3490;AF_raw=0.3506;AF_afr=0.5778;AF_sas=.;AF_amr=0.2453;AF_eas=0.3329;AF_nfe=0.2528;AF_fin=0.2728;AF_asj=0.2276;AF_oth=0.3078;non_topmed_AF_popmax=0.5787;non_neuro_AF_popmax=0.5743;non_cancer_AF_popmax=.;controls_AF_popmax=0.5772;Kaviar_AF=0.276128;Kaviar_AC=42690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.045016;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 +15 48797146 rs17361868 C T 100 PASS AC=6;AF=0.0756789;AN=214;NS=2504;DP=20308;EAS_AF=0.1538;AMR_AF=0.0879;AFR_AF=0.0045;EUR_AF=0.0547;SAS_AF=0.1043;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17361868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0527;AF_popmax=0.1532;AF_male=0.0537;AF_female=0.0514;AF_raw=0.0526;AF_afr=0.0119;AF_sas=.;AF_amr=0.0837;AF_eas=0.1532;AF_nfe=0.0568;AF_fin=0.0800;AF_asj=0.0655;AF_oth=0.0607;non_topmed_AF_popmax=0.1537;non_neuro_AF_popmax=0.1532;non_cancer_AF_popmax=.;controls_AF_popmax=0.1430;Kaviar_AF=0.0100257;Kaviar_AC=1550;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0530303::0.739904;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797158 rs113577695 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20065;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113577695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.552e-05;AF_popmax=0.0006;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.144336;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797192 rs25459 C T 100 PASS AC=2;AF=0.0221645;AN=214;NS=2504;DP=18899;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0726;EUR_AF=0.003;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25459;CLNALLELEID=255273;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0073;ExAC_nontcga_AFR=0.0609;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0179;AF_popmax=0.0595;AF_male=0.0172;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0595;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0595;non_neuro_AF_popmax=0.0630;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0071733;Kaviar_AC=1109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797307 rs25458 A G 100 PASS AC=18;AF=0.296925;AN=214;NS=2504;DP=19066;EAS_AF=0.3522;AMR_AF=0.2046;AFR_AF=0.5106;EUR_AF=0.1501;SAS_AF=0.1677;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25458;CLNALLELEID=51467;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1420;ExAC_nontcga_ALL=0.2043;ExAC_nontcga_AFR=0.4635;ExAC_nontcga_AMR=0.2080;ExAC_nontcga_EAS=0.3557;ExAC_nontcga_FIN=0.2031;ExAC_nontcga_NFE=0.1539;ExAC_nontcga_OTH=0.1859;ExAC_nontcga_SAS=0.1548;AF=0.2575;AF_popmax=0.4592;AF_male=0.2574;AF_female=0.2575;AF_raw=0.2578;AF_afr=0.4592;AF_sas=.;AF_amr=0.1706;AF_eas=0.3338;AF_nfe=0.1581;AF_fin=0.2098;AF_asj=0.0621;AF_oth=0.2188;non_topmed_AF_popmax=0.4593;non_neuro_AF_popmax=0.4679;non_cancer_AF_popmax=.;controls_AF_popmax=0.4715;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739965;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48807637 rs4775765 C T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18317;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4775765;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000092|hsa-miR-92a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659792;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +15 48818303 rs201610317 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201610317;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48826356 rs113721547 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=15952;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon8:c.T783C:p.N261N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113721547;CLNALLELEID=242082;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.098e-05;AF=0.0012;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0017;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0038;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718571;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48826428 rs575688251 A G 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=16251;EAS_AF=0.005;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0082;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs575688251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.987e-05;AF_raw=9.557e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0011;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0088032;Kaviar_AC=1361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.078443;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48888508 rs111671429 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22842;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon6:c.C510T:p.Y170Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111671429;CLNALLELEID=44750;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.929e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0013;AF_popmax=0.0025;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0013;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1274680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.698052;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48888610 rs116842662 T C 100 PASS AC=11;AF=0.0151757;AN=214;NS=2504;DP=22312;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0159;EUR_AF=0.0368;SAS_AF=0.0112;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0151757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116842662;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0158;ExAC_nontcga_AFR=0.0162;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0108;ExAC_nontcga_NFE=0.0218;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0118;AF=0.0167;AF_popmax=0.0194;AF_male=0.0169;AF_female=0.0166;AF_raw=0.0167;AF_afr=0.0172;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0194;AF_fin=0.0138;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0178;non_neuro_AF_popmax=0.0195;non_cancer_AF_popmax=.;controls_AF_popmax=0.0171;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1274680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.871569;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +15 48892427 rs201083095 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20948;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon5:c.A351T:p.Q117H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201083095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.501;MutationTaster_pred=D;MutationAssessor_score=2.77;MutationAssessor_score_rankscore=0.812;MutationAssessor_pred=M;FATHMM_score=-1.58;FATHMM_converted_rankscore=0.820;FATHMM_pred=D;PROVEAN_score=-2.71;PROVEAN_converted_rankscore=0.577;PROVEAN_pred=D;VEST3_score=0.837;VEST3_rankscore=0.824;MetaSVM_score=0.245;MetaSVM_rankscore=0.867;MetaSVM_pred=D;MetaLR_score=0.643;MetaLR_rankscore=0.875;MetaLR_pred=D;M-CAP_score=0.168;M-CAP_rankscore=0.847;M-CAP_pred=D;REVEL_score=0.505;REVEL_rankscore=0.789;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.225;CADD_raw_rankscore=0.566;CADD_phred=23.9;DANN_score=0.994;DANN_rankscore=0.637;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.553;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.511;Eigen-PC-raw=0.476;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.388;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=1.550;phyloP100way_vertebrate_rankscore=0.356;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=8.502;SiPhy_29way_logOdds_rankscore=0.321;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.685e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.646845;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48892504 rs28730799 T C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=22554;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0060;AF_popmax=0.0142;AF_male=0.0060;AF_female=0.0060;AF_raw=0.0060;AF_afr=0.0023;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0015136;Kaviar_AC=234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.646387;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48902965 rs25388 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18663;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon4:c.C306T:p.C102C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25388;CLNALLELEID=141017;CLNDN=Ectopia_lentis|Connective_tissue_disorder|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0009782|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0076;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0004;AF=0.0031;AF_popmax=0.0038;AF_male=0.0030;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0086;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0040232;Kaviar_AC=622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.720767;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63335907 rs201720832 C G 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=11658;EAS_AF=0.0069;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018007:exon2:c.C117G:p.L39L,TPM1:NM_001018020:exon2:c.C117G:p.L39L,TPM1:NM_001301244:exon2:c.C117G:p.L39L;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201720832;CLNALLELEID=52853;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0083;AF=0.0008;AF_popmax=0.0147;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0147;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0147;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896019;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63335910 rs397516491 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11686;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018007:exon2:c.G120A:p.E40E,TPM1:NM_001018020:exon2:c.G120A:p.E40E,TPM1:NM_001301244:exon2:c.G120A:p.E40E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516491;CLNALLELEID=52854;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0001;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896019;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63336099 rs62013181 C G 100 PASS AC=17;AF=0.028754;AN=214;NS=2504;DP=14796;EAS_AF=0.001;AMR_AF=0.0692;AFR_AF=0.0023;EUR_AF=0.0815;SAS_AF=0.0102;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62013181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0560;AF_popmax=0.0799;AF_male=0.0553;AF_female=0.0568;AF_raw=0.0561;AF_afr=0.0173;AF_sas=.;AF_amr=0.0625;AF_eas=0;AF_nfe=0.0799;AF_fin=0.0697;AF_asj=0.0552;AF_oth=0.0579;non_topmed_AF_popmax=0.0784;non_neuro_AF_popmax=0.0794;non_cancer_AF_popmax=.;controls_AF_popmax=0.0622;Kaviar_AF=0.0668895;Kaviar_AC=1741;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +15 63340705 rs111470259 C T 100 PASS AC=16;AF=0.210863;AN=214;NS=2504;DP=9430;EAS_AF=0.4345;AMR_AF=0.1715;AFR_AF=0.0537;EUR_AF=0.0954;SAS_AF=0.3395;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC100128979;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111470259;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3753;ExAC_nontcga_AFR=0.1875;ExAC_nontcga_AMR=0.3056;ExAC_nontcga_EAS=0.5256;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.2085;ExAC_nontcga_OTH=0.3182;ExAC_nontcga_SAS=0.4054;AF=0.1262;AF_popmax=0.4387;AF_male=0.1271;AF_female=0.125;AF_raw=0.1263;AF_afr=0.0790;AF_sas=.;AF_amr=0.1519;AF_eas=0.4387;AF_nfe=0.1184;AF_fin=0.1317;AF_asj=0.0621;AF_oth=0.1467;non_topmed_AF_popmax=0.4392;non_neuro_AF_popmax=0.4387;non_cancer_AF_popmax=.;controls_AF_popmax=0.4308;Kaviar_AF=0.0403552;Kaviar_AC=6239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1725385|N/A|HNF4A|PAZAR,OREG1271416|N/A|SMARCA4|PAZAR,OREG1676422|N/A|GATA2|PAZAR,OREG1852947|N/A|RB1|PAZAR,OREG1902832|N/A|STAT1|PAZAR,OREG1190035|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.912126;ALLELE_END GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +15 63349132 rs28485524 T A 100 PASS AC=30;AF=0.126198;AN=214;NS=2504;DP=20040;EAS_AF=0.0456;AMR_AF=0.2939;AFR_AF=0.0998;EUR_AF=0.1064;SAS_AF=0.1462;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28485524;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1316;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1164;AF_popmax=0.2849;AF_male=0.1134;AF_female=0.1203;AF_raw=0.1166;AF_afr=0.1085;AF_sas=.;AF_amr=0.2849;AF_eas=0.0327;AF_nfe=0.1325;AF_fin=0.0659;AF_asj=0.1138;AF_oth=0.1029;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2518;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.0246827;Kaviar_AC=3816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.389911;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +15 63351687 rs4775614 A G 100 PASS AC=160;AF=0.861422;AN=214;NS=2504;DP=21310;EAS_AF=0.996;AMR_AF=0.8646;AFR_AF=0.8124;EUR_AF=0.7704;SAS_AF=0.8804;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.861422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4775614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8099;AF_popmax=0.9942;AF_male=0.8136;AF_female=0.8052;AF_raw=0.8097;AF_afr=0.8013;AF_sas=.;AF_amr=0.8608;AF_eas=0.9942;AF_nfe=0.8018;AF_fin=0.7781;AF_asj=0.7586;AF_oth=0.8039;non_topmed_AF_popmax=0.9941;non_neuro_AF_popmax=0.9942;non_cancer_AF_popmax=.;controls_AF_popmax=0.9912;Kaviar_AF=0.161246;Kaviar_AC=24929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.656370;ALLELE_END GT 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 +15 63351736 rs182734513 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21180;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182734513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0025;AF=9.553e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.215568;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63351840 rs1071646 C A 100 PASS AC=130;AF=0.705671;AN=214;NS=2504;DP=20013;EAS_AF=0.9504;AMR_AF=0.5591;AFR_AF=0.6112;EUR_AF=0.66;SAS_AF=0.7321;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;1000g2015aug_all=0.705671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1071646;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6458;ExAC_nontcga_ALL=0.6753;ExAC_nontcga_AFR=0.6158;ExAC_nontcga_AMR=0.5617;ExAC_nontcga_EAS=0.9593;ExAC_nontcga_FIN=0.6981;ExAC_nontcga_NFE=0.6555;ExAC_nontcga_OTH=0.6729;ExAC_nontcga_SAS=0.7059;AF=0.6602;AF_popmax=0.9602;AF_male=0.6648;AF_female=0.6544;AF_raw=0.6597;AF_afr=0.6109;AF_sas=.;AF_amr=0.5650;AF_eas=0.9602;AF_nfe=0.6539;AF_fin=0.6963;AF_asj=0.6379;AF_oth=0.6783;non_topmed_AF_popmax=0.9592;non_neuro_AF_popmax=0.9602;non_cancer_AF_popmax=.;controls_AF_popmax=0.9562;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739207;ALLELE_END GT 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 0|0 1|0 1|1 0|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|0 0|0 +15 63351873 rs11558747 T C 100 PASS AC=15;AF=0.0241613;AN=214;NS=2504;DP=19741;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0015;EUR_AF=0.0676;SAS_AF=0.0204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.T378C:p.Y126Y,TPM1:NM_001301289:exon3:c.T378C:p.Y126Y,TPM1:NM_001330344:exon3:c.T378C:p.Y126Y,TPM1:NM_001330346:exon3:c.T378C:p.Y126Y,TPM1:NM_001330351:exon3:c.T378C:p.Y126Y,TPM1:NM_000366:exon4:c.T486C:p.Y162Y,TPM1:NM_001018004:exon4:c.T486C:p.Y162Y,TPM1:NM_001018005:exon4:c.T486C:p.Y162Y,TPM1:NM_001018006:exon4:c.T486C:p.Y162Y,TPM1:NM_001018007:exon4:c.T486C:p.Y162Y,TPM1:NM_001018020:exon4:c.T486C:p.Y162Y,TPM1:NM_001301244:exon4:c.T486C:p.Y162Y;1000g2015aug_all=0.0241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558747;CLNALLELEID=40549;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0713;ExAC_nontcga_ALL=0.0523;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0225;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0957;ExAC_nontcga_NFE=0.0779;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0173;AF=0.0530;AF_popmax=0.0706;AF_male=0.0507;AF_female=0.0559;AF_raw=0.0529;AF_afr=0.0098;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.0706;AF_fin=0.0932;AF_asj=0.1172;AF_oth=0.0809;non_topmed_AF_popmax=0.0730;non_neuro_AF_popmax=0.0695;non_cancer_AF_popmax=.;controls_AF_popmax=0.0794;Kaviar_AF=0.0524314;Kaviar_AC=8106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.803976;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63353451 rs144700226 A G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=21327;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001330344:exon5:c.A510G:p.A170A,TPM1:NM_001330351:exon5:c.A510G:p.A170A,TPM1:NM_000366:exon6:c.A618G:p.A206A,TPM1:NM_001018006:exon6:c.A618G:p.A206A,TPM1:NM_001018020:exon6:c.A618G:p.A206A;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144700226;CLNALLELEID=52600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0057;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0010673;Kaviar_AC=165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993718|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.871204;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63353565 rs150837663 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63356237 rs147200454 C T 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=19470;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147200454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271417|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.839659;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147200454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271417|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.839659;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63358033 rs534616208 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63362256 rs191417491 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17275;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001330351:c.*114A>G\x3bNM_001018008:c.*114A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191417491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993720|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.998416;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63363401 rs201620283 C CATTTT,CATTTTGTTTT 100 PASS AC=48,39;AF=0.32528,0.127396;AN=214;NS=2504;DP=25145;EAS_AF=0.3978,0.1141;AMR_AF=0.3357,0.1282;AFR_AF=0.3139,0.0893;EUR_AF=0.1928,0.2217;SAS_AF=0.3947,0.0951;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*30_*31insATTTT\x3bNM_001018020:c.*30_*31insATTTT\x3bNM_001018006:c.*30_*31insATTTT\x3bNM_001018004:c.*30_*31insATTTT\x3bNM_001330351:c.*1259_*1260insATTTT\x3bNM_001330344:c.*30_*31insATTTT\x3bNM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.32528;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201620283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3492;ExAC_nontcga_AFR=0.3744;ExAC_nontcga_AMR=0.5561;ExAC_nontcga_EAS=0.5571;ExAC_nontcga_FIN=0.2168;ExAC_nontcga_NFE=0.2493;ExAC_nontcga_OTH=0.2616;ExAC_nontcga_SAS=0.4816;AF=0.3133;AF_popmax=0.5515;AF_male=0.3126;AF_female=0.3141;AF_raw=0.3139;AF_afr=0.3677;AF_sas=.;AF_amr=0.4597;AF_eas=0.5515;AF_nfe=0.2733;AF_fin=0.2297;AF_asj=0.1944;AF_oth=0.2934;non_topmed_AF_popmax=0.5501;non_neuro_AF_popmax=0.5515;non_cancer_AF_popmax=.;controls_AF_popmax=0.5520;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*30_*31insATTTTGTTTT\x3bNM_001018020:c.*30_*31insATTTTGTTTT\x3bNM_001018006:c.*30_*31insATTTTGTTTT\x3bNM_001018004:c.*30_*31insATTTTGTTTT\x3bNM_001330351:c.*1259_*1260insATTTTGTTTT\x3bNM_001330344:c.*30_*31insATTTTGTTTT\x3bNM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4631;ExAC_nontcga_AFR=0.3227;ExAC_nontcga_AMR=0.3528;ExAC_nontcga_EAS=0.4391;ExAC_nontcga_FIN=0.5428;ExAC_nontcga_NFE=0.5274;ExAC_nontcga_OTH=0.5260;ExAC_nontcga_SAS=0.3805;AF=0.4543;AF_popmax=0.5105;AF_male=0.4561;AF_female=0.4521;AF_raw=0.4540;AF_afr=0.3231;AF_sas=.;AF_amr=0.3910;AF_eas=0.4407;AF_nfe=0.5105;AF_fin=0.5355;AF_asj=0.5521;AF_oth=0.4899;non_topmed_AF_popmax=0.5088;non_neuro_AF_popmax=0.5101;non_cancer_AF_popmax=.;controls_AF_popmax=0.4969;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END GT 1|0 1|0 0|2 1|0 0|0 0|1 0|1 0|0 0|2 2|0 0|0 1|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 2|0 0|2 0|1 0|0 1|0 0|2 0|1 0|1 0|0 0|2 1|2 2|0 0|1 2|0 0|0 1|0 0|1 0|2 1|0 0|1 0|1 1|0 0|0 2|0 0|2 0|2 2|0 1|0 2|0 2|0 0|2 0|2 0|0 0|2 2|0 0|0 2|0 0|1 0|1 1|0 2|0 1|0 0|2 0|1 1|0 2|0 1|0 0|2 0|1 0|1 2|1 0|1 0|1 0|0 0|0 0|0 0|2 0|0 0|0 0|1 0|0 1|0 0|1 0|2 2|0 0|0 0|0 0|1 1|0 0|2 0|1 2|0 1|0 1|2 0|1 0|0 2|1 0|1 2|0 0|1 0|1 0|2 0|1 1|0 0|2 0|1 2|0 1|0 +15 63363402 rs11558748 G A 100 PASS AC=72;AF=0.372005;AN=214;NS=2504;DP=29216;EAS_AF=0.4841;AMR_AF=0.3934;AFR_AF=0.2776;EUR_AF=0.3519;SAS_AF=0.3896;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*31G>A\x3bNM_001018020:c.*31G>A\x3bNM_001018006:c.*31G>A\x3bNM_001018004:c.*31G>A\x3bNM_001330351:c.*1260G>A\x3bNM_001330344:c.*31G>A\x3bNM_001301289:c.*31G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.372005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558748;CLNALLELEID=255319;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0082;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.5;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0056;AF=0.0060;AF_popmax=0.3333;AF_male=0.0057;AF_female=0.0063;AF_raw=0.0013;AF_afr=0.0024;AF_sas=.;AF_amr=0;AF_eas=0.3333;AF_nfe=0.0097;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.3333;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.0210;Kaviar_AF=0.0122185;Kaviar_AC=1889;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END GT 0|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 +15 66679649 rs142027715 T TC 100 PASS AC=19;AF=0.147165;AN=214;NS=2504;DP=10040;EAS_AF=0.3214;AMR_AF=0.1326;AFR_AF=0.0938;EUR_AF=0.0835;SAS_AF=0.1155;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=MAP2K1;GeneDetail.refGene=NM_002755:c.-37_-36insC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs730880340;CLNALLELEID=49180;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0874;ExAC_nontcga_ALL=0.1082;ExAC_nontcga_AFR=0.1016;ExAC_nontcga_AMR=0.1136;ExAC_nontcga_EAS=0.3455;ExAC_nontcga_FIN=0.1429;ExAC_nontcga_NFE=0.1089;ExAC_nontcga_OTH=0.1462;ExAC_nontcga_SAS=0.0969;AF=0.0996;AF_popmax=0.3419;AF_male=0.1029;AF_female=0.0954;AF_raw=0.0992;AF_afr=0.0979;AF_sas=.;AF_amr=0.1312;AF_eas=0.3419;AF_nfe=0.0757;AF_fin=0.0898;AF_asj=0.1414;AF_oth=0.0994;non_topmed_AF_popmax=0.3446;non_neuro_AF_popmax=0.3419;non_cancer_AF_popmax=.;controls_AF_popmax=0.3377;Kaviar_AF=0.0004851;Kaviar_AC=75;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.371543;ALLELE_END GT 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679798 rs56149436 C G 100 PASS AC=2;AF=0.00758786;AN=214;NS=2504;DP=10342;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56149436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0179;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1176;ExAC_nontcga_NFE=0.0159;ExAC_nontcga_OTH=0.0082;ExAC_nontcga_SAS=0.0042;AF=0.0183;AF_popmax=0.0252;AF_male=0.0164;AF_female=0.0207;AF_raw=0.0185;AF_afr=0.0021;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0252;AF_fin=0.0403;AF_asj=0.0138;AF_oth=0.0138;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0048835;Kaviar_AC=755;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.844827;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679819 rs4483802 G C 100 PASS AC=21;AF=0.0361422;AN=214;NS=2504;DP=10499;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0106;EUR_AF=0.1064;SAS_AF=0.0358;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4483802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0613;AF_popmax=0.0862;AF_male=0.0602;AF_female=0.0627;AF_raw=0.0616;AF_afr=0.0222;AF_sas=.;AF_amr=0.0390;AF_eas=0;AF_nfe=0.0862;AF_fin=0.0774;AF_asj=0.0759;AF_oth=0.0720;non_topmed_AF_popmax=0.0871;non_neuro_AF_popmax=0.0868;non_cancer_AF_popmax=.;controls_AF_popmax=0.0946;Kaviar_AF=0.0581681;Kaviar_AC=1514;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0757576::-0.300821;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0808824::1.1802;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1231486|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.893784;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679850 rs71447901 TG T 100 PASS AC=21;AF=0.0361422;AN=214;NS=2504;DP=11380;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0106;EUR_AF=0.1064;SAS_AF=0.0358;AA=GG|GG|G|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71447901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0614;AF_popmax=0.0864;AF_male=0.0604;AF_female=0.0627;AF_raw=0.0615;AF_afr=0.0222;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0864;AF_fin=0.0779;AF_asj=0.0759;AF_oth=0.0704;non_topmed_AF_popmax=0.0873;non_neuro_AF_popmax=0.0869;non_cancer_AF_popmax=.;controls_AF_popmax=0.0953;Kaviar_AF=0.0107961;Kaviar_AC=281;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.859840;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679867 rs540517860 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11783;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540517860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.861026;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66727597 rs16949924 G C 100 PASS AC=69;AF=0.270767;AN=214;NS=2504;DP=19622;EAS_AF=0.3155;AMR_AF=0.3401;AFR_AF=0.0991;EUR_AF=0.3241;SAS_AF=0.3528;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.270767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16949924;CLNALLELEID=49254;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3353;ExAC_nontcga_ALL=0.3161;ExAC_nontcga_AFR=0.1441;ExAC_nontcga_AMR=0.3547;ExAC_nontcga_EAS=0.3207;ExAC_nontcga_FIN=0.2859;ExAC_nontcga_NFE=0.3226;ExAC_nontcga_OTH=0.2767;ExAC_nontcga_SAS=0.3748;AF=0.2651;AF_popmax=0.3432;AF_male=0.2653;AF_female=0.2650;AF_raw=0.2653;AF_afr=0.1396;AF_sas=.;AF_amr=0.3432;AF_eas=0.3127;AF_nfe=0.3215;AF_fin=0.2928;AF_asj=0.2113;AF_oth=0.2689;non_topmed_AF_popmax=0.3432;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.310293;Kaviar_AC=47972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.299632::-0.162793;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.091206;ALLELE_END GT 1|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 +15 66729250 rs16949939 C T 100 PASS AC=6;AF=0.0191693;AN=214;NS=2504;DP=20535;EAS_AF=0.0099;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0219;SAS_AF=0.0552;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16949939;CLNALLELEID=49219;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0279;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0.0139;ExAC_nontcga_FIN=0.0166;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0622;AF=0.0135;AF_popmax=0.0200;AF_male=0.0144;AF_female=0.0124;AF_raw=0.0135;AF_afr=0.0037;AF_sas=.;AF_amr=0.0094;AF_eas=0.0064;AF_nfe=0.0200;AF_fin=0.0127;AF_asj=0.0172;AF_oth=0.0147;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0200;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0263386;Kaviar_AC=4072;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +15 66735551 rs6494573 C T 100 PASS AC=193;AF=0.855232;AN=214;NS=2504;DP=14926;EAS_AF=0.999;AMR_AF=0.9352;AFR_AF=0.5946;EUR_AF=0.8926;SAS_AF=0.9642;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.855232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6494573;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8418;AF_popmax=1;AF_male=0.8412;AF_female=0.8425;AF_raw=0.8412;AF_afr=0.6358;AF_sas=.;AF_amr=0.9374;AF_eas=1;AF_nfe=0.9127;AF_fin=0.9217;AF_asj=0.9172;AF_oth=0.9084;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.177346;Kaviar_AC=27418;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.11553::-1.09836;Heart_Left_Ventricle=Heart_Left_Ventricle::0.121324::-0.857887;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.869498;ALLELE_END GT 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +15 66736922 rs189428720 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=17356;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189428720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0059;AF_male=0.0026;AF_female=0.0032;AF_raw=0.0029;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0009;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0004851;Kaviar_AC=75;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.245217;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66777345 rs17586159 G A 100 PASS AC=2;AF=0.00539137;AN=214;NS=2504;DP=21090;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon7:c.G711A:p.G237G;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17586159;CLNALLELEID=49224;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0107;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0165;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0054;AF=0.0117;AF_popmax=0.0182;AF_male=0.0123;AF_female=0.0111;AF_raw=0.0117;AF_afr=0.0044;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0182;AF_fin=0.0081;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0183;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.772167;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66779537 rs201809886 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18853;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201809886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.629e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.951e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.552630;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66779698 rs41315964 C T 100 PASS AC=17;AF=0.0900559;AN=214;NS=2504;DP=16623;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.1233;EUR_AF=0.1064;SAS_AF=0.091;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0893;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0952;AF_popmax=0.1063;AF_male=0.0934;AF_female=0.0976;AF_raw=0.0952;AF_afr=0.1063;AF_sas=.;AF_amr=0.0579;AF_eas=0.0449;AF_nfe=0.0903;AF_fin=0.1172;AF_asj=0.0897;AF_oth=0.1089;non_topmed_AF_popmax=0.1070;non_neuro_AF_popmax=0.0960;non_cancer_AF_popmax=.;controls_AF_popmax=0.1028;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.106061::-0.403587;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +15 66782048 rs41306345 C T 100 PASS AC=17;AF=0.0892572;AN=214;NS=2504;DP=21128;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.1203;EUR_AF=0.1064;SAS_AF=0.091;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0892572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41306345;CLNALLELEID=49230;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0854;ExAC_nontcga_ALL=0.0840;ExAC_nontcga_AFR=0.1090;ExAC_nontcga_AMR=0.0550;ExAC_nontcga_EAS=0.0467;ExAC_nontcga_FIN=0.1234;ExAC_nontcga_NFE=0.0860;ExAC_nontcga_OTH=0.1081;ExAC_nontcga_SAS=0.0846;AF=0.0949;AF_popmax=0.1057;AF_male=0.0931;AF_female=0.0972;AF_raw=0.0952;AF_afr=0.1057;AF_sas=.;AF_amr=0.0590;AF_eas=0.0449;AF_nfe=0.0899;AF_fin=0.1169;AF_asj=0.0897;AF_oth=0.1105;non_topmed_AF_popmax=0.1064;non_neuro_AF_popmax=0.0952;non_cancer_AF_popmax=.;controls_AF_popmax=0.1022;Kaviar_AF=0.0828838;Kaviar_AC=12814;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.104167::-0.407947;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.701726;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +15 66782108 rs545661620 CTATT C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21904;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SNAPC5;GeneDetail.refGene=NM_006049:c.*968_*965delAATA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516788;CLNALLELEID=53753;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0019;AF_raw=0.0018;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.356641,99.640818;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73614834 rs529004 T C 100 PASS AC=202;AF=0.859625;AN=214;NS=2504;DP=13076;EAS_AF=0.879;AMR_AF=0.9539;AFR_AF=0.7269;EUR_AF=0.9374;SAS_AF=0.8722;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3600G:p.P1200P;1000g2015aug_all=0.859625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529004;CLNALLELEID=101184;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9344;ExAC_nontcga_ALL=0.9014;ExAC_nontcga_AFR=0.7672;ExAC_nontcga_AMR=0.9645;ExAC_nontcga_EAS=0.8839;ExAC_nontcga_FIN=0.9437;ExAC_nontcga_NFE=0.9273;ExAC_nontcga_OTH=0.8857;ExAC_nontcga_SAS=0.8458;AF=0.8886;AF_popmax=0.9493;AF_male=0.8859;AF_female=0.8919;AF_raw=0.8880;AF_afr=0.7705;AF_sas=.;AF_amr=0.9493;AF_eas=0.8800;AF_nfe=0.9396;AF_fin=0.9375;AF_asj=0.8819;AF_oth=0.9216;non_topmed_AF_popmax=0.9481;non_neuro_AF_popmax=0.9422;non_cancer_AF_popmax=.;controls_AF_popmax=0.9446;Kaviar_AF=0.88158;Kaviar_AC=136294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917057;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +15 73614974 rs200896834 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11341;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3460T:p.R1154W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200896834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.924;Polyphen2_HVAR_rankscore=0.642;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.743;MutationTaster_converted_rankscore=0.338;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-4.61;FATHMM_converted_rankscore=0.979;FATHMM_pred=D;PROVEAN_score=-2.74;PROVEAN_converted_rankscore=0.582;PROVEAN_pred=D;VEST3_score=0.563;VEST3_rankscore=0.596;MetaSVM_score=1.031;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.913;MetaLR_rankscore=0.971;MetaLR_pred=D;M-CAP_score=0.480;M-CAP_rankscore=0.948;M-CAP_pred=D;REVEL_score=0.546;REVEL_rankscore=0.814;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.878;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_rankscore=0.527;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.017;Eigen-PC-raw=-0.127;GenoCanyon_score=0.946;GenoCanyon_score_rankscore=0.276;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.46;GERP++_RS_rankscore=0.289;phyloP100way_vertebrate=4.530;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=0.043;phyloP20way_mammalian_rankscore=0.157;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=10.178;SiPhy_29way_logOdds_rankscore=0.419;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.918e-05;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.729e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885622;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615084 rs140402087 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=11498;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3350T:p.P1117L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140402087;CLNALLELEID=195986;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.082;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=-4.42;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=0.254;MetaSVM_rankscore=0.868;MetaSVM_pred=D;MetaLR_score=0.812;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.293;REVEL_rankscore=0.617;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.325;CADD_raw_rankscore=0.458;CADD_phred=22.9;DANN_score=0.990;DANN_rankscore=0.499;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.781;Eigen-PC-raw=-0.798;GenoCanyon_score=0.986;GenoCanyon_score_rankscore=0.309;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=1.37;GERP++_RS_rankscore=0.211;phyloP100way_vertebrate=3.358;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.003;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.620;phastCons20way_mammalian_rankscore=0.292;SiPhy_29way_logOdds=11.282;SiPhy_29way_logOdds_rankscore=0.482;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0217;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0026;AF_popmax=0.0030;AF_male=0.0024;AF_female=0.0029;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0081;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.866784;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615097 rs142735148 T C 100 PASS AC=5;AF=0.0081869;AN=214;NS=2504;DP=11518;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0068;EUR_AF=0.0129;SAS_AF=0.0133;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3337G:p.M1113V;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142735148;CLNALLELEID=141246;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=-4.08;FATHMM_converted_rankscore=0.966;FATHMM_pred=D;PROVEAN_score=-0.02;PROVEAN_converted_rankscore=0.073;PROVEAN_pred=N;VEST3_score=0.038;VEST3_rankscore=0.018;MetaSVM_score=-0.310;MetaSVM_rankscore=0.747;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_rankscore=0.764;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.311;REVEL_rankscore=0.637;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-3.599;CADD_raw_rankscore=0.000;CADD_phred=0.001;DANN_score=0.364;DANN_rankscore=0.023;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.022;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.844;Eigen-PC-raw=-1.832;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.11;GERP++_RS_rankscore=0.027;phyloP100way_vertebrate=-0.425;phyloP100way_vertebrate_rankscore=0.070;phyloP20way_mammalian=-0.729;phyloP20way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.762;phastCons20way_mammalian_rankscore=0.325;SiPhy_29way_logOdds=10.555;SiPhy_29way_logOdds_rankscore=0.441;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0113;ExAC_nontcga_AMR=0.0355;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0322;ExAC_nontcga_OTH=0.0169;ExAC_nontcga_SAS=0.0279;AF=0.0085;AF_popmax=0.0119;AF_male=0.0075;AF_female=0.0098;AF_raw=0.0085;AF_afr=0.0063;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0092;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0123;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.008247;Kaviar_AC=1275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.847514;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +15 73615146 rs116042117 G A 100 PASS AC=1;AF=0.0071885;AN=214;NS=2504;DP=11125;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0219;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3288T:p.D1096D;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116042117;CLNALLELEID=177764;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0267;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=0.0044;AF_popmax=0.0151;AF_male=0.0042;AF_female=0.0047;AF_raw=0.0044;AF_afr=0.0151;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0154;non_cancer_AF_popmax=.;controls_AF_popmax=0.0145;Kaviar_AF=0.0016106;Kaviar_AC=249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.872069;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615531 rs548194804 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=9540;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2903T:p.P968L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548194804;CLNALLELEID=374723;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.152;SIFT_converted_rankscore=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-6.2;FATHMM_converted_rankscore=0.996;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.41;VEST3_rankscore=0.468;MetaSVM_score=0.960;MetaSVM_rankscore=0.965;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.912;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.468;REVEL_rankscore=0.766;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.536;CADD_raw_rankscore=0.247;CADD_phred=13.51;DANN_score=0.983;DANN_rankscore=0.396;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_rankscore=0.419;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.661;Eigen-PC-raw=-0.616;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.335;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.93;GERP++_RS_rankscore=0.329;phyloP100way_vertebrate=5.082;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.828;phyloP20way_mammalian_rankscore=0.338;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.483;phastCons20way_mammalian_rankscore=0.268;SiPhy_29way_logOdds=9.545;SiPhy_29way_logOdds_rankscore=0.383;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.387e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.257e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.389e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.616832;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615786 rs148398509 G C 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=12064;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2648G:p.P883R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148398509;CLNALLELEID=141245;CLNDN=Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.1;FATHMM_converted_rankscore=0.773;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_converted_rankscore=0.212;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.097;MetaSVM_score=-0.973;MetaSVM_rankscore=0.366;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.186;CADD_raw_rankscore=0.112;CADD_phred=4.529;DANN_score=0.825;DANN_rankscore=0.137;fathmm-MKL_coding_score=0.381;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.687;Eigen-PC-raw=-0.632;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.6;GERP++_RS_rankscore=0.300;phyloP100way_vertebrate=2.858;phyloP100way_vertebrate_rankscore=0.478;phyloP20way_mammalian=0.751;phyloP20way_mammalian_rankscore=0.309;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.905;phastCons20way_mammalian_rankscore=0.384;SiPhy_29way_logOdds=8.988;SiPhy_29way_logOdds_rankscore=0.350;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0132;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0237;ExAC_nontcga_SAS=0.0026;AF=0.0077;AF_popmax=0.0121;AF_male=0.0074;AF_female=0.0081;AF_raw=0.0077;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0043;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668182;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615878 rs117819825 C T 100 PASS AC=8;AF=0.0275559;AN=214;NS=2504;DP=14196;EAS_AF=0;AMR_AF=0.0821;AFR_AF=0.0023;EUR_AF=0.0348;SAS_AF=0.044;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2556A:p.P852P;1000g2015aug_all=0.0275559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117819825;CLNALLELEID=101183;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0488;ExAC_nontcga_ALL=0.0451;ExAC_nontcga_AFR=0.0117;ExAC_nontcga_AMR=0.1085;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0215;ExAC_nontcga_NFE=0.0471;ExAC_nontcga_OTH=0.0408;ExAC_nontcga_SAS=0.0443;AF=0.0339;AF_popmax=0.0884;AF_male=0.0340;AF_female=0.0337;AF_raw=0.0339;AF_afr=0.0120;AF_sas=.;AF_amr=0.0884;AF_eas=0.0006;AF_nfe=0.0483;AF_fin=0.0228;AF_asj=0.0345;AF_oth=0.0441;non_topmed_AF_popmax=0.0877;non_neuro_AF_popmax=0.0866;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0447148;Kaviar_AC=6913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712799;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +15 73615940 rs200058167 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12521;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2494T:p.L832L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200058167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.943e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.76e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611743;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73616252 rs200468312 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12753;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2182A:p.D728N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200468312;CLNALLELEID=529037;CLNDN=Brugada_syndrome_8;CLNDISDB=MedGen:C2751083,OMIM:613123;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.033;SIFT_converted_rankscore=0.443;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.697;Polyphen2_HVAR_rankscore=0.522;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.463;MutationTaster_pred=D;MutationAssessor_score=1.96;MutationAssessor_score_rankscore=0.533;MutationAssessor_pred=M;FATHMM_score=-1.85;FATHMM_converted_rankscore=0.843;FATHMM_pred=D;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=0.267;MetaSVM_rankscore=0.870;MetaSVM_pred=D;MetaLR_score=0.605;MetaLR_rankscore=0.860;MetaLR_pred=D;M-CAP_score=0.154;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.400;REVEL_rankscore=0.717;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.312;CADD_raw_rankscore=0.457;CADD_phred=22.9;DANN_score=0.995;DANN_rankscore=0.669;fathmm-MKL_coding_score=0.892;fathmm-MKL_coding_rankscore=0.492;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.359;Eigen-PC-raw=0.307;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.46;GERP++_RS_rankscore=0.386;phyloP100way_vertebrate=4.903;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.803;phyloP20way_mammalian_rankscore=0.325;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.125;SiPhy_29way_logOdds_rankscore=0.720;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.637e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=0.0012;AF_male=5.735e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.919174;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73616635 rs481579 T C 100 PASS AC=202;AF=0.772963;AN=214;NS=2504;DP=12930;EAS_AF=0.8135;AMR_AF=0.9438;AFR_AF=0.469;EUR_AF=0.9314;SAS_AF=0.8579;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.772963;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs481579;CLNALLELEID=255358;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9314;ExAC_nontcga_ALL=0.8747;ExAC_nontcga_AFR=0.5441;ExAC_nontcga_AMR=0.9544;ExAC_nontcga_EAS=0.8232;ExAC_nontcga_FIN=0.9351;ExAC_nontcga_NFE=0.9241;ExAC_nontcga_OTH=0.8942;ExAC_nontcga_SAS=0.8374;AF=0.8193;AF_popmax=0.9348;AF_male=0.8140;AF_female=0.8259;AF_raw=0.8188;AF_afr=0.5484;AF_sas=.;AF_amr=0.9245;AF_eas=0.8224;AF_nfe=0.9348;AF_fin=0.9272;AF_asj=0.8621;AF_oth=0.8989;non_topmed_AF_popmax=0.9357;non_neuro_AF_popmax=0.9335;non_cancer_AF_popmax=.;controls_AF_popmax=0.9383;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +15 73617239 rs117448777 C T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=17539;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117448777;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0088;AF_popmax=0.0131;AF_male=0.0082;AF_female=0.0095;AF_raw=0.0088;AF_afr=0.0028;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0075;AF_asj=0.0138;AF_oth=0.0175;non_topmed_AF_popmax=0.0137;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0020634;Kaviar_AC=319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.538347;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617250 rs41277728 C T 100 PASS AC=4;AF=0.00778754;AN=214;NS=2504;DP=17966;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0132;ExAC_nontcga_SAS=0.0102;AF=0.0134;AF_popmax=0.0218;AF_male=0.0130;AF_female=0.0140;AF_raw=0.0134;AF_afr=0.0045;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0218;AF_fin=0.0058;AF_asj=0.0103;AF_oth=0.0185;non_topmed_AF_popmax=0.0214;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0199;Kaviar_AF=0.0146052;Kaviar_AC=2258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617804 rs41279186 G T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=15747;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41279186;CLNALLELEID=141243;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0145;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0020;AF=0.0076;AF_popmax=0.0119;AF_male=0.0071;AF_female=0.0081;AF_raw=0.0076;AF_afr=0.0028;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0043;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0120;non_cancer_AF_popmax=.;controls_AF_popmax=0.0104;Kaviar_AF=0.0071539;Kaviar_AC=1106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527667;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617851 rs150425796 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16057;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150425796;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=0.0012;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73621933 rs199852438 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.G1571A:p.R524Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199852438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.968;Polyphen2_HVAR_rankscore=0.701;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=-4.55;FATHMM_converted_rankscore=0.978;FATHMM_pred=D;PROVEAN_score=-3.82;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.53;VEST3_rankscore=0.570;MetaSVM_score=1.077;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.947;MetaLR_rankscore=0.983;MetaLR_pred=D;M-CAP_score=0.330;M-CAP_rankscore=0.918;M-CAP_pred=D;REVEL_score=0.815;REVEL_rankscore=0.941;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.335;CADD_raw_rankscore=0.875;CADD_phred=29.3;DANN_score=0.999;DANN_rankscore=0.955;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_rankscore=0.609;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.716;Eigen-PC-raw=0.655;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=7.813;phyloP100way_vertebrate_rankscore=0.845;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.532;SiPhy_29way_logOdds_rankscore=0.841;Interpro_domain=Cyclic_nucleotide-binding-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.938418;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73621946 rs12909882 G A 100 PASS AC=21;AF=0.053115;AN=214;NS=2504;DP=18042;EAS_AF=0.003;AMR_AF=0.0576;AFR_AF=0.0446;EUR_AF=0.0815;SAS_AF=0.0838;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1558T:p.L520L;1000g2015aug_all=0.053115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12909882;CLNALLELEID=141242;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0910;ExAC_nontcga_ALL=0.0854;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.0856;ExAC_nontcga_EAS=0.0017;ExAC_nontcga_FIN=0.1328;ExAC_nontcga_NFE=0.0928;ExAC_nontcga_OTH=0.1009;ExAC_nontcga_SAS=0.1048;AF=0.0861;AF_popmax=0.1063;AF_male=0.0822;AF_female=0.0910;AF_raw=0.0862;AF_afr=0.0455;AF_sas=.;AF_amr=0.0684;AF_eas=0.0019;AF_nfe=0.1063;AF_fin=0.1316;AF_asj=0.0897;AF_oth=0.1135;non_topmed_AF_popmax=0.1078;non_neuro_AF_popmax=0.1070;non_cancer_AF_popmax=.;controls_AF_popmax=0.1214;Kaviar_AF=0.0839058;Kaviar_AC=12972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933404;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 +15 73622049 rs148875639 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.G1455A:p.A485A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148875639;CLNALLELEID=510682;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.377e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925392;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73622061 rs200337785 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18023;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1443T:p.Y481Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200337785;CLNALLELEID=373684;CLNDN=Brugada_syndrome_8|not_specified;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.8e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.948e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.71e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905001;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73624463 rs200303699 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200303699;CLNALLELEID=101182;CLNDN=Brugada_syndrome_8|not_specified|not_provided;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0005;AF_popmax=0.0017;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.371777;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73660154 rs560874115 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5445;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.A458G:p.E153G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560874115;CLNALLELEID=178709;CLNDN=Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=-4.44;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=0.19;PROVEAN_converted_rankscore=0.050;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.100;MetaSVM_rankscore=0.801;MetaSVM_pred=T;MetaLR_score=0.727;MetaLR_rankscore=0.906;MetaLR_pred=D;M-CAP_score=0.983;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.187;REVEL_rankscore=0.468;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.242;CADD_raw_rankscore=0.117;CADD_phred=5.119;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.793;Eigen-PC-raw=-0.751;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.658;integrated_fitCons_score_rankscore=0.486;integrated_confidence_value=0;GERP++_RS=3.68;GERP++_RS_rankscore=0.412;phyloP100way_vertebrate=-0.098;phyloP100way_vertebrate_rankscore=0.109;phyloP20way_mammalian=-0.080;phyloP20way_mammalian_rankscore=0.119;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=3.176;SiPhy_29way_logOdds_rankscore=0.061;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0009;AF_raw=0.0011;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0037;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0010;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942508;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73660505 rs143090627 C T 100 PASS AC=24;AF=0.0249601;AN=214;NS=2504;DP=7263;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0068;EUR_AF=0.0696;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G107A:p.G36E;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143090627;CLNALLELEID=141240;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-4.68;FATHMM_converted_rankscore=0.980;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.193;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=-0.316;MetaSVM_rankscore=0.745;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_rankscore=0.588;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.234;REVEL_rankscore=0.541;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.191;CADD_raw_rankscore=0.324;CADD_phred=17.45;DANN_score=0.976;DANN_rankscore=0.341;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.838;Eigen-PC-raw=-0.799;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.96;GERP++_RS_rankscore=0.251;phyloP100way_vertebrate=1.042;phyloP100way_vertebrate_rankscore=0.297;phyloP20way_mammalian=0.695;phyloP20way_mammalian_rankscore=0.298;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.954;phastCons20way_mammalian_rankscore=0.431;SiPhy_29way_logOdds=6.714;SiPhy_29way_logOdds_rankscore=0.223;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0508;ExAC_nontcga_ALL=0.0585;ExAC_nontcga_AFR=0.0335;ExAC_nontcga_AMR=0.1067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0833;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.0635;ExAC_nontcga_SAS=0.0264;AF=0.0385;AF_popmax=0.0593;AF_male=0.0355;AF_female=0.0423;AF_raw=0.0386;AF_afr=0.0110;AF_sas=.;AF_amr=0.0422;AF_eas=0;AF_nfe=0.0593;AF_fin=0.0255;AF_asj=0.0951;AF_oth=0.0428;non_topmed_AF_popmax=0.0577;non_neuro_AF_popmax=0.0588;non_cancer_AF_popmax=.;controls_AF_popmax=0.0452;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.766523;ALLELE_END GT 0|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +15 73660576 rs201193660 G C 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=8058;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C36G:p.L12L;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201193660;CLNALLELEID=101185;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0690;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0030;AF=0.0062;AF_popmax=0.0063;AF_male=0.0053;AF_female=0.0072;AF_raw=0.0063;AF_afr=0.0014;AF_sas=.;AF_amr=0.0025;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0211;AF_asj=0;AF_oth=0.0084;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0052;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.852221;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +16 30913382 rs186725199 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7974;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186725199;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.437069;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +16 30913405 rs145280280 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7064;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTF1:NM_001142544:exon3:c.C148T:p.L50F,CTF1:NM_001330:exon3:c.C151T:p.L51F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145280280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.053;SIFT_converted_rankscore=0.388;SIFT_pred=T;Polyphen2_HDIV_score=0.167;Polyphen2_HDIV_rankscore=0.270;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.071;Polyphen2_HVAR_rankscore=0.265;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.371;LRT_pred=N;MutationTaster_score=0.705;MutationTaster_converted_rankscore=0.300;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-1.06;FATHMM_converted_rankscore=0.768;FATHMM_pred=T;PROVEAN_score=1.49;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.174;MetaSVM_score=-0.555;MetaSVM_rankscore=0.666;MetaSVM_pred=T;MetaLR_score=0.236;MetaLR_rankscore=0.603;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.727;M-CAP_pred=D;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.493;CADD_raw_rankscore=0.361;CADD_phred=19.42;DANN_score=0.985;DANN_rankscore=0.413;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.114;Eigen-PC-raw=0.091;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.564;integrated_fitCons_score_rankscore=0.319;integrated_confidence_value=0;GERP++_RS=5.24;GERP++_RS_rankscore=0.728;phyloP100way_vertebrate=0.926;phyloP100way_vertebrate_rankscore=0.282;phyloP20way_mammalian=0.890;phyloP20way_mammalian_rankscore=0.394;phastCons100way_vertebrate=0.967;phastCons100way_vertebrate_rankscore=0.338;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=14.336;SiPhy_29way_logOdds_rankscore=0.660;Interpro_domain=Four-helical_cytokine-like,_core;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1226096|N/A|SMARCA4|PAZAR,OREG1256361|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.573393;ALLELE_END 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AC=1;AF=0.00119808;AN=214;NS=2504;DP=7895;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTF1:NM_001142544:exon3:c.C588G:p.P196P,CTF1:NM_001330:exon3:c.C591G:p.P197P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516652;CLNALLELEID=53349;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0357;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0091;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0011;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR,OREG0075153|N/A|TFAP2A|JASPAR,OREG1174768|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.544957;ALLELE_END 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AC=1;AF=0.000599042;AN=214;NS=2504;DP=14817;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RANGRF;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RANGRF:NM_001177801:exon1:c.C52T:p.L18F,RANGRF:NM_001177802:exon1:c.C52T:p.L18F,RANGRF:NM_001330127:exon1:c.C52T:p.L18F,RANGRF:NM_016492:exon1:c.C52T:p.L18F;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150856064;CLNALLELEID=188668;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.099;SIFT_converted_rankscore=0.313;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_rankscore=0.274;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.092;Polyphen2_HVAR_rankscore=0.285;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=0.959;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.06;MutationAssessor_score_rankscore=0.271;MutationAssessor_pred=L;FATHMM_score=-1.51;FATHMM_converted_rankscore=0.814;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.53;VEST3_rankscore=0.584;MetaSVM_score=-0.345;MetaSVM_rankscore=0.737;MetaSVM_pred=T;MetaLR_score=0.382;MetaLR_rankscore=0.738;MetaLR_pred=T;M-CAP_score=0.062;M-CAP_rankscore=0.687;M-CAP_pred=D;REVEL_score=0.474;REVEL_rankscore=0.770;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.830;CADD_raw_rankscore=0.281;CADD_phred=15.17;DANN_score=0.791;DANN_rankscore=0.122;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_rankscore=0.460;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.276;Eigen-PC-raw=-0.203;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=4.44;GERP++_RS_rankscore=0.530;phyloP100way_vertebrate=1.499;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.875;phastCons100way_vertebrate_rankscore=0.306;phastCons20way_mammalian=0.060;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=9.724;SiPhy_29way_logOdds_rankscore=0.393;Interpro_domain=Mog1/PsbP,_alpha/beta/alpha_sandwich;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0007;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1792302|N/A|RBL2|PAZAR,OREG1806025|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.632641;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 8192922 rs869773 C T 100 PASS AC=11;AF=0.141573;AN=214;NS=2504;DP=19205;EAS_AF=0.2887;AMR_AF=0.232;AFR_AF=0.0915;EUR_AF=0.0497;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF\x3bSLC25A35;GeneDetail.refGene=NM_001177802:c.*43C>T\x3bNM_001177801:c.*12C>T\x3bNM_001320871:c.*12G>A\x3bNM_201520:c.*12G>A\x3bNM_001320872:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869773;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1029;ExAC_nontcga_AFR=0.0995;ExAC_nontcga_AMR=0.3275;ExAC_nontcga_EAS=0.2682;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.0426;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.0744;AF=0.0807;AF_popmax=0.2530;AF_male=0.0829;AF_female=0.0781;AF_raw=0.0809;AF_afr=0.0977;AF_sas=.;AF_amr=0.2530;AF_eas=0.2484;AF_nfe=0.0430;AF_fin=0.0912;AF_asj=0.0897;AF_oth=0.0720;non_topmed_AF_popmax=0.2587;non_neuro_AF_popmax=0.2484;non_cancer_AF_popmax=.;controls_AF_popmax=0.2522;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF\x3bSLC25A35;GeneDetail.refGene=NM_001177802:c.*43C>T\x3bNM_001177801:c.*12C>T\x3bNM_001320871:c.*12G>A\x3bNM_201520:c.*12G>A\x3bNM_001320872:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869773;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1029;ExAC_nontcga_AFR=0.0995;ExAC_nontcga_AMR=0.3275;ExAC_nontcga_EAS=0.2682;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.0426;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.0744;AF=0.0807;AF_popmax=0.2530;AF_male=0.0829;AF_female=0.0781;AF_raw=0.0809;AF_afr=0.0977;AF_sas=.;AF_amr=0.2530;AF_eas=0.2484;AF_nfe=0.0430;AF_fin=0.0912;AF_asj=0.0897;AF_oth=0.0720;non_topmed_AF_popmax=0.2587;non_neuro_AF_popmax=0.2484;non_cancer_AF_popmax=.;controls_AF_popmax=0.2522;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +17 8192970 rs111417202 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=19136;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF;GeneDetail.refGene=NM_001177802:c.*91G>A\x3bNM_001177801:c.*60G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111417202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.0197;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0218;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0223;ExAC_nontcga_SAS=0.0039;AF=0.0135;AF_popmax=0.0187;AF_male=0.0131;AF_female=0.0140;AF_raw=0.0135;AF_afr=0.0028;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0187;AF_fin=0.0219;AF_asj=0.0207;AF_oth=0.0166;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0176;Kaviar_AF=0.0131952;Kaviar_AC=2040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 8192987 rs140531156 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19069;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF;GeneDetail.refGene=NM_001177802:c.*108C>A\x3bNM_001177801:c.*77C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140531156;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.645e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.867e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37821770 rs2941510 C T 100 PASS AC=3;AF=0.0301518;AN=214;NS=2504;DP=16075;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0643;EUR_AF=0.0437;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2941510;CLNALLELEID=256159;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0561;ExAC_nontcga_ALL=0.0396;ExAC_nontcga_AFR=0.0692;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0515;ExAC_nontcga_NFE=0.0537;ExAC_nontcga_OTH=0.0185;ExAC_nontcga_SAS=0.0066;AF=0.0550;AF_popmax=0.0737;AF_male=0.0549;AF_female=0.0551;AF_raw=0.0550;AF_afr=0.0737;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0545;AF_fin=0.0513;AF_asj=0.0034;AF_oth=0.0386;non_topmed_AF_popmax=0.0736;non_neuro_AF_popmax=0.0688;non_cancer_AF_popmax=.;controls_AF_popmax=0.0683;Kaviar_AF=0.041112;Kaviar_AC=6356;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.546347;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37821927 rs45469691 G C 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=15929;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.006;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45469691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0077;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0076;AF=0.0016;AF_popmax=0.0020;AF_male=0.0018;AF_female=0.0014;AF_raw=0.0016;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386216;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37822174 rs45578741 C T 100 PASS AC=2;AF=0.00838658;AN=214;NS=2504;DP=16990;EAS_AF=0.002;AMR_AF=0.049;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.C316T:p.R106C;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45578741;CLNALLELEID=53873;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C4225408,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.949;Polyphen2_HVAR_rankscore=0.670;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.38;FATHMM_converted_rankscore=0.883;FATHMM_pred=D;PROVEAN_score=-5.52;PROVEAN_converted_rankscore=0.860;PROVEAN_pred=D;VEST3_score=0.881;VEST3_rankscore=0.869;MetaSVM_score=0.011;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.310;MetaLR_rankscore=0.681;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.776;REVEL_rankscore=0.926;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.733;CADD_raw_rankscore=0.919;CADD_phred=32;DANN_score=0.981;DANN_rankscore=0.379;fathmm-MKL_coding_score=0.821;fathmm-MKL_coding_rankscore=0.411;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.439;Eigen-PC-raw=0.442;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.495;integrated_fitCons_score_rankscore=0.175;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=1.289;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.912;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.757;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=17.338;SiPhy_29way_logOdds_rankscore=0.871;Interpro_domain=Titin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.1755;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0108;ExAC_nontcga_SAS=0.0018;AF=0.0060;AF_popmax=0.1285;AF_male=0.0060;AF_female=0.0061;AF_raw=0.0060;AF_afr=0.0015;AF_sas=.;AF_amr=0.1285;AF_eas=0;AF_nfe=0.0039;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1333;non_neuro_AF_popmax=0.1047;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.0168885;Kaviar_AC=2611;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004804|hsa-miR-615-5p|Experimental,MIMAT0019737|hsa-miR-4664-5p|Experimental,MIMAT0004694|hsa-miR-342-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492801|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.323358;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37822311 rs1053651 A C 100 PASS AC=149;AF=0.54972;AN=214;NS=2504;DP=18573;EAS_AF=0.4167;AMR_AF=0.5591;AFR_AF=0.4191;EUR_AF=0.7217;SAS_AF=0.68;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;1000g2015aug_all=0.54972;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053651;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7122;ExAC_nontcga_ALL=0.6696;ExAC_nontcga_AFR=0.4362;ExAC_nontcga_AMR=0.6269;ExAC_nontcga_EAS=0.4;ExAC_nontcga_FIN=0.7367;ExAC_nontcga_NFE=0.7260;ExAC_nontcga_OTH=0.7118;ExAC_nontcga_SAS=0.7398;AF=0.6127;AF_popmax=0.7039;AF_male=0.6048;AF_female=0.6225;AF_raw=0.6123;AF_afr=0.4312;AF_sas=.;AF_amr=0.6156;AF_eas=0.3630;AF_nfe=0.7039;AF_fin=0.7429;AF_asj=0.6379;AF_oth=0.7044;non_topmed_AF_popmax=0.7055;non_neuro_AF_popmax=0.7058;non_cancer_AF_popmax=.;controls_AF_popmax=0.7006;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.331439::-0.295326;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.354663;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492801|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114223;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|0 1|0 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 0|1 +17 39911975 rs41275669 G T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16106;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JUP;GeneDetail.refGene=NM_002230:c.*21C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41275669;CLNALLELEID=141667;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0143;AF=0.0015;AF_popmax=0.0026;AF_male=0.0016;AF_female=0.0014;AF_raw=0.0015;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.265799;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39912145 rs1126821 T A 100 PASS AC=155;AF=0.58726;AN=214;NS=2504;DP=16521;EAS_AF=0.3452;AMR_AF=0.5231;AFR_AF=0.5719;EUR_AF=0.7435;SAS_AF=0.7423;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;1000g2015aug_all=0.58726;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126821;CLNALLELEID=34156;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_converted_rankscore=0.209;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.625;MutationAssessor_score_rankscore=0.021;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_converted_rankscore=0.082;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.112;MetaSVM_score=-0.959;MetaSVM_rankscore=0.394;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.242;CADD_raw_rankscore=0.214;CADD_phred=11.97;DANN_score=0.691;DANN_rankscore=0.086;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_rankscore=0.335;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.560;Eigen-PC-raw=-0.403;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.12;GERP++_RS_rankscore=0.196;phyloP100way_vertebrate=1.029;phyloP100way_vertebrate_rankscore=0.295;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=12.111;SiPhy_29way_logOdds_rankscore=0.530;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7391;ExAC_nontcga_ALL=0.6525;ExAC_nontcga_AFR=0.6048;ExAC_nontcga_AMR=0.4271;ExAC_nontcga_EAS=0.3406;ExAC_nontcga_FIN=0.6698;ExAC_nontcga_NFE=0.7257;ExAC_nontcga_OTH=0.6627;ExAC_nontcga_SAS=0.7357;AF=0.6648;AF_popmax=0.7420;AF_male=0.6612;AF_female=0.6693;AF_raw=0.6638;AF_afr=0.6008;AF_sas=.;AF_amr=0.4929;AF_eas=0.3175;AF_nfe=0.7420;AF_fin=0.6665;AF_asj=0.6724;AF_oth=0.7037;non_topmed_AF_popmax=0.7375;non_neuro_AF_popmax=0.7432;non_cancer_AF_popmax=.;controls_AF_popmax=0.7354;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.303397;ALLELE_END GT 1|1 0|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39912581 rs9890858 A G 100 PASS AC=160;AF=0.636581;AN=214;NS=2504;DP=15993;EAS_AF=0.3452;AMR_AF=0.549;AFR_AF=0.7247;EUR_AF=0.7724;SAS_AF=0.7403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.636581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9890858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7208;AF_popmax=0.7696;AF_male=0.7198;AF_female=0.7221;AF_raw=0.7205;AF_afr=0.7404;AF_sas=.;AF_amr=0.5047;AF_eas=0.3185;AF_nfe=0.7696;AF_fin=0.6885;AF_asj=0.6897;AF_oth=0.7289;non_topmed_AF_popmax=0.7652;non_neuro_AF_popmax=0.7703;non_cancer_AF_popmax=.;controls_AF_popmax=0.7579;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39912590 rs192142106 G A 100 PASS AC=3;AF=0.000798722;AN=214;NS=2504;DP=16335;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192142106;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0015;AF_male=0.0011;AF_female=0.0015;AF_raw=0.0013;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.00146;Kaviar_AC=38;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39913645 rs7216034 T C 100 PASS AC=155;AF=0.717252;AN=214;NS=2504;DP=18576;EAS_AF=0.5099;AMR_AF=0.5778;AFR_AF=0.9138;EUR_AF=0.7535;SAS_AF=0.727;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.717252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7216034;CLNALLELEID=256165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7456;ExAC_nontcga_ALL=0.7047;ExAC_nontcga_AFR=0.9008;ExAC_nontcga_AMR=0.4984;ExAC_nontcga_EAS=0.5040;ExAC_nontcga_FIN=0.7154;ExAC_nontcga_NFE=0.7367;ExAC_nontcga_OTH=0.6960;ExAC_nontcga_SAS=0.7233;AF=0.7692;AF_popmax=0.8948;AF_male=0.7700;AF_female=0.7682;AF_raw=0.7689;AF_afr=0.8948;AF_sas=.;AF_amr=0.5557;AF_eas=0.4903;AF_nfe=0.7529;AF_fin=0.7192;AF_asj=0.6828;AF_oth=0.7390;non_topmed_AF_popmax=0.8947;non_neuro_AF_popmax=0.8931;non_cancer_AF_popmax=.;controls_AF_popmax=0.8931;Kaviar_AF=0.705741;Kaviar_AC=109109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39913826 rs147482423 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17649;EAS_AF=0;AMR_AF=0;AFR_AF=0.0083;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147482423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0086;AF_male=0.0027;AF_female=0.0026;AF_raw=0.0027;AF_afr=0.0086;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147482423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0086;AF_male=0.0027;AF_female=0.0026;AF_raw=0.0027;AF_afr=0.0086;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39914070 rs8067890 G T 100 PASS AC=155;AF=0.638978;AN=214;NS=2504;DP=17904;EAS_AF=0.4653;AMR_AF=0.5432;AFR_AF=0.6974;EUR_AF=0.7525;SAS_AF=0.6902;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8067890;CLNALLELEID=256166;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7430;ExAC_nontcga_ALL=0.6713;ExAC_nontcga_AFR=0.7158;ExAC_nontcga_AMR=0.4374;ExAC_nontcga_EAS=0.4607;ExAC_nontcga_FIN=0.7110;ExAC_nontcga_NFE=0.7328;ExAC_nontcga_OTH=0.6812;ExAC_nontcga_SAS=0.7071;AF=0.7114;AF_popmax=0.7493;AF_male=0.7118;AF_female=0.7109;AF_raw=0.7117;AF_afr=0.7104;AF_sas=.;AF_amr=0.5071;AF_eas=0.4466;AF_nfe=0.7493;AF_fin=0.7119;AF_asj=0.6793;AF_oth=0.7255;non_topmed_AF_popmax=0.7463;non_neuro_AF_popmax=0.7496;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.662385;Kaviar_AC=102406;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39915057 rs149926974 T C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=14547;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon9:c.A1563G:p.A521A,JUP:NM_021991:exon9:c.A1563G:p.A521A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149926974;CLNALLELEID=55002;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0542;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0009;AF=0.0122;AF_popmax=0.0112;AF_male=0.0112;AF_female=0.0133;AF_raw=0.0123;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0494;AF_asj=0;AF_oth=0.0249;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0202;Kaviar_AF=0.0046118;Kaviar_AC=713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.242843;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39919367 rs77375949 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=20523;EAS_AF=0.003;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon8:c.C1365T:p.A455A,JUP:NM_021991:exon8:c.C1365T:p.A455A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77375949;CLNALLELEID=176821;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0046;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0002;AF_popmax=0.0039;AF_male=0.0004;AF_female=0;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.788548;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39923614 rs12942034 A G 100 PASS AC=177;AF=0.744209;AN=214;NS=2504;DP=14934;EAS_AF=0.5119;AMR_AF=0.6023;AFR_AF=0.9054;EUR_AF=0.8171;SAS_AF=0.7914;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.744209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12942034;CLNALLELEID=256168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8084;ExAC_nontcga_ALL=0.7580;ExAC_nontcga_AFR=0.8964;ExAC_nontcga_AMR=0.5040;ExAC_nontcga_EAS=0.4999;ExAC_nontcga_FIN=0.7981;ExAC_nontcga_NFE=0.8079;ExAC_nontcga_OTH=0.7595;ExAC_nontcga_SAS=0.7957;AF=0.8106;AF_popmax=0.8904;AF_male=0.8072;AF_female=0.8150;AF_raw=0.8102;AF_afr=0.8904;AF_sas=.;AF_amr=0.5696;AF_eas=0.4961;AF_nfe=0.8138;AF_fin=0.7991;AF_asj=0.7951;AF_oth=0.8050;non_topmed_AF_popmax=0.8902;non_neuro_AF_popmax=0.8852;non_cancer_AF_popmax=.;controls_AF_popmax=0.8850;Kaviar_AF=0.740928;Kaviar_AC=114549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39925713 rs41283425 C T 100 PASS AC=14;AF=0.0239617;AN=214;NS=2504;DP=18035;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0023;EUR_AF=0.0567;SAS_AF=0.0378;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.G425A:p.R142H,JUP:NM_021991:exon3:c.G425A:p.R142H;1000g2015aug_all=0.0239617;GWAS=rs41283425|Balding-type-1||8E-10|PMID:30595370;ORegAnno_REGULATORY_P=rs41283425|Balding-type-1||8E-10|PMID:30595370;avsnp150=rs41283425;CLNALLELEID=55016;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=-0.11;FATHMM_converted_rankscore=0.645;FATHMM_pred=T;PROVEAN_score=-3.95;PROVEAN_converted_rankscore=0.756;PROVEAN_pred=D;VEST3_score=0.415;VEST3_rankscore=0.765;MetaSVM_score=-0.562;MetaSVM_rankscore=0.663;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.359;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.504;REVEL_rankscore=0.789;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.586;CADD_raw_rankscore=0.953;CADD_phred=34;DANN_score=1.000;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.703;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.795;Eigen-PC-raw=0.768;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=7.896;phyloP100way_vertebrate_rankscore=0.858;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=18.433;SiPhy_29way_logOdds_rankscore=0.905;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=ENSG00000173805.11;GTEx_V6p_tissue=Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0581;ExAC_nontcga_ALL=0.0485;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.0299;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0790;ExAC_nontcga_NFE=0.0620;ExAC_nontcga_OTH=0.0641;ExAC_nontcga_SAS=0.0499;AF=0.0453;AF_popmax=0.0675;AF_male=0.0449;AF_female=0.0458;AF_raw=0.0453;AF_afr=0.0070;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0675;AF_fin=0.0620;AF_asj=0.0724;AF_oth=0.0525;non_topmed_AF_popmax=0.0675;non_neuro_AF_popmax=0.0688;non_cancer_AF_popmax=.;controls_AF_popmax=0.0823;Kaviar_AF=0.0426062;Kaviar_AC=6587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.062306;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39925925 rs7405731 A G 100 PASS AC=174;AF=0.715655;AN=214;NS=2504;DP=15883;EAS_AF=0.5238;AMR_AF=0.5706;AFR_AF=0.8933;EUR_AF=0.7525;SAS_AF=0.7382;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;1000g2015aug_all=0.715655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7405731;CLNALLELEID=55010;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7552;ExAC_nontcga_ALL=0.7315;ExAC_nontcga_AFR=0.8888;ExAC_nontcga_AMR=0.5431;ExAC_nontcga_EAS=0.5301;ExAC_nontcga_FIN=0.7068;ExAC_nontcga_NFE=0.7592;ExAC_nontcga_OTH=0.7371;ExAC_nontcga_SAS=0.7600;AF=0.7658;AF_popmax=0.8837;AF_male=0.7644;AF_female=0.7675;AF_raw=0.7653;AF_afr=0.8837;AF_sas=.;AF_amr=0.5660;AF_eas=0.5039;AF_nfe=0.7559;AF_fin=0.6818;AF_asj=0.8207;AF_oth=0.7426;non_topmed_AF_popmax=0.8836;non_neuro_AF_popmax=0.8828;non_cancer_AF_popmax=.;controls_AF_popmax=0.8821;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.243610;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|0 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 0|1 0|0 +17 48243312 rs75145501 C A 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=15276;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.002;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SGCA;GeneDetail.refGene=dist\x3d34;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75145501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0078;AF_popmax=0.0114;AF_male=0.0081;AF_female=0.0074;AF_raw=0.0078;AF_afr=0.0018;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0118;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0115;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0015653;Kaviar_AC=242;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.622953;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243323 rs539515085 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15434;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SGCA;GeneDetail.refGene=dist\x3d23;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539515085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=.;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.510978;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243461 rs79410682 G A 100 PASS AC=12;AF=0.0283546;AN=214;NS=2504;DP=16240;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0061;EUR_AF=0.0606;SAS_AF=0.0573;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79410682;CLNALLELEID=256266;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0627;ExAC_nontcga_ALL=0.0535;ExAC_nontcga_AFR=0.0094;ExAC_nontcga_AMR=0.0319;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0791;ExAC_nontcga_NFE=0.0692;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.0546;AF=0.0496;AF_popmax=0.0706;AF_male=0.0482;AF_female=0.0513;AF_raw=0.0497;AF_afr=0.0090;AF_sas=.;AF_amr=0.0331;AF_eas=0.0019;AF_nfe=0.0706;AF_fin=0.0783;AF_asj=0.0655;AF_oth=0.0616;non_topmed_AF_popmax=0.0715;non_neuro_AF_popmax=0.0704;non_cancer_AF_popmax=.;controls_AF_popmax=0.0695;Kaviar_AF=0.0529941;Kaviar_AC=8193;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541115;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243504 rs9911548 C T 100 PASS AC=214;AF=0.988618;AN=214;NS=2504;DP=16321;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9599;EUR_AF=1;SAS_AF=1;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.988618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9911548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9997;ExAC_nontcga_ALL=0.9974;ExAC_nontcga_AFR=0.9712;ExAC_nontcga_AMR=0.9992;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=0.9999;AF=0.9917;AF_popmax=1;AF_male=0.9908;AF_female=0.9929;AF_raw=0.9917;AF_afr=0.9714;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.944212;Kaviar_AC=145977;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.967132;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +17 48244683 rs142537375 G C 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=14989;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.0099;SAS_AF=0.0225;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142537375;CLNALLELEID=488278;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0243;AF=0.0062;AF_popmax=0.0089;AF_male=0.0066;AF_female=0.0058;AF_raw=0.0062;AF_afr=0.0045;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0089;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0055;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0088615;Kaviar_AC=1370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1505010|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114083;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48244932 rs140261054 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=14893;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140261054;CLNALLELEID=329103;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013713;Kaviar_AC=212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.298689;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48245269 rs59944537 C A 100 PASS AC=19;AF=0.122404;AN=214;NS=2504;DP=18938;EAS_AF=0.0337;AMR_AF=0.196;AFR_AF=0.143;EUR_AF=0.1292;SAS_AF=0.1268;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59944537;CLNALLELEID=256269;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1379;ExAC_nontcga_ALL=0.1416;ExAC_nontcga_AFR=0.1500;ExAC_nontcga_AMR=0.2271;ExAC_nontcga_EAS=0.0407;ExAC_nontcga_FIN=0.1585;ExAC_nontcga_NFE=0.1396;ExAC_nontcga_OTH=0.1556;ExAC_nontcga_SAS=0.1261;AF=0.1471;AF_popmax=0.2075;AF_male=0.1434;AF_female=0.1517;AF_raw=0.1472;AF_afr=0.1537;AF_sas=.;AF_amr=0.2075;AF_eas=0.0417;AF_nfe=0.1498;AF_fin=0.1532;AF_asj=0.1448;AF_oth=0.1400;non_topmed_AF_popmax=0.2099;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2439;Kaviar_AF=0.139222;Kaviar_AC=21524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000558161|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.568663;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +17 48245324 rs145697858 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17321;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon4:c.G329A:p.R110Q,SGCA:NM_001135697:exon4:c.G329A:p.R110Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145697858;CLNALLELEID=488615;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-4.96;FATHMM_converted_rankscore=0.985;FATHMM_pred=D;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.771;VEST3_rankscore=0.873;MetaSVM_score=1.061;MetaSVM_rankscore=0.984;MetaSVM_pred=D;MetaLR_score=0.948;MetaLR_rankscore=0.983;MetaLR_pred=D;M-CAP_score=0.195;M-CAP_rankscore=0.864;M-CAP_pred=D;REVEL_score=0.784;REVEL_rankscore=0.929;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.470;CADD_raw_rankscore=0.892;CADD_phred=29.9;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.670;Eigen-PC-raw=0.641;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.609;integrated_fitCons_score_rankscore=0.351;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=4.672;phyloP100way_vertebrate_rankscore=0.611;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.655;SiPhy_29way_logOdds_rankscore=0.616;Interpro_domain=Cadherin-like|Dystroglycan-type_cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0001;AF_male=0.0011;AF_female=0.0013;AF_raw=0.0012;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0101;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008861;Kaviar_AC=137;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000558161|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.886478;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 48245770 rs35130237 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15504;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon5:c.C421A:p.R141S,SGCA:NM_001135697:exon5:c.C421A:p.R141S;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35130237;CLNALLELEID=194779;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.118;SIFT_converted_rankscore=0.481;SIFT_pred=T;Polyphen2_HDIV_score=0.584;Polyphen2_HDIV_rankscore=0.532;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.262;Polyphen2_HVAR_rankscore=0.448;Polyphen2_HVAR_pred=B;LRT_score=0.982;LRT_converted_rankscore=0.078;LRT_pred=N;MutationTaster_score=0.979;MutationTaster_converted_rankscore=0.263;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-4.45;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=-0.64;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.744;VEST3_rankscore=0.775;MetaSVM_score=0.252;MetaSVM_rankscore=0.868;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=0.288;M-CAP_rankscore=0.905;M-CAP_pred=D;REVEL_score=0.605;REVEL_rankscore=0.847;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.670;CADD_raw_rankscore=0.382;CADD_phred=20.6;DANN_score=0.990;DANN_rankscore=0.496;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.421;Eigen-PC-raw=-0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.29;GERP++_RS_rankscore=0.275;phyloP100way_vertebrate=0.159;phyloP100way_vertebrate_rankscore=0.161;phyloP20way_mammalian=-1.062;phyloP20way_mammalian_rankscore=0.020;phastCons100way_vertebrate=0.006;phastCons100way_vertebrate_rankscore=0.172;phastCons20way_mammalian=0.780;phastCons20way_mammalian_rankscore=0.330;SiPhy_29way_logOdds=3.664;SiPhy_29way_logOdds_rankscore=0.077;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0035;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.891253;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48247689 rs1801191 C T 100 PASS AC=7;AF=0.0786741;AN=214;NS=2504;DP=20676;EAS_AF=0.0079;AMR_AF=0.0288;AFR_AF=0.236;EUR_AF=0.0457;SAS_AF=0.0082;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon7:c.C933T:p.V311V;1000g2015aug_all=0.0786741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801191;CLNALLELEID=135741;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0416;ExAC_nontcga_ALL=0.0437;ExAC_nontcga_AFR=0.2094;ExAC_nontcga_AMR=0.0226;ExAC_nontcga_EAS=0.0080;ExAC_nontcga_FIN=0.0336;ExAC_nontcga_NFE=0.0370;ExAC_nontcga_OTH=0.0318;ExAC_nontcga_SAS=0.0105;AF=0.0840;AF_popmax=0.2058;AF_male=0.0860;AF_female=0.0815;AF_raw=0.0842;AF_afr=0.2058;AF_sas=.;AF_amr=0.0413;AF_eas=0.0090;AF_nfe=0.0399;AF_fin=0.0320;AF_asj=0.0552;AF_oth=0.0506;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.1943;non_cancer_AF_popmax=.;controls_AF_popmax=0.2023;Kaviar_AF=0.0452517;Kaviar_AC=6996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.783359;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +17 48247996 rs200098340 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17111;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200098340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668316;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48248083 rs147162020 C A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=17603;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147162020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0127;AF_popmax=0.0151;AF_male=0.0108;AF_female=0.0152;AF_raw=0.0128;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0151;AF_fin=0.0415;AF_asj=0.0034;AF_oth=0.0175;non_topmed_AF_popmax=0.0191;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0307;Kaviar_AF=0.0018442;Kaviar_AC=48;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48252804 rs2696288 T C 100 PASS AC=207;AF=0.921925;AN=214;NS=2504;DP=18152;EAS_AF=1;AMR_AF=0.9697;AFR_AF=0.7617;EUR_AF=0.9543;SAS_AF=0.9908;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SGCA;GeneDetail.refGene=NM_000023:c.*6T>C\x3bNM_001135697:c.*6T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.921925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2696288;CLNALLELEID=178065;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9589;ExAC_nontcga_ALL=0.9580;ExAC_nontcga_AFR=0.7941;ExAC_nontcga_AMR=0.9775;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9661;ExAC_nontcga_NFE=0.9630;ExAC_nontcga_OTH=0.9659;ExAC_nontcga_SAS=0.9894;AF=0.9162;AF_popmax=1;AF_male=0.9147;AF_female=0.9179;AF_raw=0.9160;AF_afr=0.7943;AF_sas=.;AF_amr=0.9552;AF_eas=1;AF_nfe=0.9597;AF_fin=0.9680;AF_asj=0.9483;AF_oth=0.9475;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934264;Kaviar_AC=144439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248115;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 +17 68172326 rs173135 C T 100 PASS AC=24;AF=0.153954;AN=214;NS=2504;DP=20815;EAS_AF=0.131;AMR_AF=0.2392;AFR_AF=0.1551;EUR_AF=0.1203;SAS_AF=0.1503;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.C1146T:p.L382L;1000g2015aug_all=0.153954;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs173135;CLNALLELEID=141691;CLNDN=Andersen_Tawil_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1186;ExAC_nontcga_ALL=0.1354;ExAC_nontcga_AFR=0.1363;ExAC_nontcga_AMR=0.2438;ExAC_nontcga_EAS=0.1038;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.1167;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.1552;AF=0.1184;AF_popmax=0.2182;AF_male=0.1207;AF_female=0.1155;AF_raw=0.1185;AF_afr=0.1352;AF_sas=.;AF_amr=0.2182;AF_eas=0.1023;AF_nfe=0.1121;AF_fin=0.0843;AF_asj=0.1138;AF_oth=0.1289;non_topmed_AF_popmax=0.2210;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.128841;Kaviar_AC=19919;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932274;ALLELE_END GT 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 +17 78078341 rs386834236 T G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=15704;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386834236;CLNALLELEID=19066;CLNDN=Muscular_Diseases|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|Glycogen_storage_disease_II,_adult_form|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C4016981|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0049;ExAC_nontcga_OTH=0.0057;ExAC_nontcga_SAS=0.0020;AF=0.0031;AF_popmax=0.0053;AF_male=0.0032;AF_female=0.0030;AF_raw=0.0031;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0;AF_asj=0.0138;AF_oth=0.0019;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0035316;Kaviar_AC=546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.906401;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78078656 rs1800299 G A 100 PASS AC=1;AF=0.0115815;AN=214;NS=2504;DP=15176;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0053;EUR_AF=0.0278;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G271A:p.D91N,GAA:NM_001079804:exon2:c.G271A:p.D91N,GAA:NM_001079803:exon3:c.G271A:p.D91N;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800299;CLNALLELEID=19059;CLNDN=Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign,_other;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-4.31;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.165;VEST3_rankscore=0.199;MetaSVM_score=-0.791;MetaSVM_rankscore=0.557;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.414;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.396;REVEL_rankscore=0.714;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.921;CADD_raw_rankscore=0.661;CADD_phred=25.0;DANN_score=0.995;DANN_rankscore=0.650;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.814;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.618;Eigen-PC-raw=0.577;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.94;GERP++_RS_rankscore=0.645;phyloP100way_vertebrate=9.795;phyloP100way_vertebrate_rankscore=0.982;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.507;phastCons20way_mammalian_rankscore=0.272;SiPhy_29way_logOdds=16.922;SiPhy_29way_logOdds_rankscore=0.860;Interpro_domain=P-type_trefoil_domain|P-type_trefoil,_conserved_site;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0315;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0089;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0207;ExAC_nontcga_NFE=0.0309;ExAC_nontcga_OTH=0.0199;ExAC_nontcga_SAS=0.0078;AF=0.0217;AF_popmax=0.0348;AF_male=0.0215;AF_female=0.0221;AF_raw=0.0218;AF_afr=0.0060;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0164;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0358;non_neuro_AF_popmax=0.0342;non_cancer_AF_popmax=.;controls_AF_popmax=0.0355;Kaviar_AF=0.0213969;Kaviar_AC=3308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767635;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78078709 rs1800300 T C 100 PASS AC=166;AF=0.714457;AN=214;NS=2504;DP=15672;EAS_AF=0.6518;AMR_AF=0.562;AFR_AF=0.7186;EUR_AF=0.7634;SAS_AF=0.8313;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;1000g2015aug_all=0.714457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800300;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7490;ExAC_nontcga_ALL=0.7354;ExAC_nontcga_AFR=0.7095;ExAC_nontcga_AMR=0.5043;ExAC_nontcga_EAS=0.6333;ExAC_nontcga_FIN=0.8006;ExAC_nontcga_NFE=0.7670;ExAC_nontcga_OTH=0.7611;ExAC_nontcga_SAS=0.8215;AF=0.7279;AF_popmax=0.7537;AF_male=0.7221;AF_female=0.7352;AF_raw=0.7277;AF_afr=0.6914;AF_sas=.;AF_amr=0.5461;AF_eas=0.6162;AF_nfe=0.7537;AF_fin=0.7923;AF_asj=0.7690;AF_oth=0.7394;non_topmed_AF_popmax=0.7554;non_neuro_AF_popmax=0.7544;non_cancer_AF_popmax=.;controls_AF_popmax=0.7628;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591056;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78078832 rs2289536 G A 100 PASS AC=1;AF=0.00958466;AN=214;NS=2504;DP=15419;EAS_AF=0.0347;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G447A:p.T149T,GAA:NM_001079804:exon2:c.G447A:p.T149T,GAA:NM_001079803:exon3:c.G447A:p.T149T;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2289536;CLNALLELEID=134567;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0293;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0025;AF=0.0052;AF_popmax=0.0334;AF_male=0.0054;AF_female=0.0050;AF_raw=0.0053;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0.0334;AF_nfe=0.0060;AF_fin=0.0017;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0336;non_neuro_AF_popmax=0.0334;non_cancer_AF_popmax=.;controls_AF_popmax=0.0306;Kaviar_AF=0.0050129;Kaviar_AC=775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0405492|N/A|ESR2|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.651471;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78079481 rs8069491 C G 100 PASS AC=165;AF=0.602436;AN=214;NS=2504;DP=16438;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6605;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8069491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6687;AF_popmax=0.7403;AF_male=0.6615;AF_female=0.6777;AF_raw=0.6679;AF_afr=0.5354;AF_sas=.;AF_amr=0.5130;AF_eas=0.5382;AF_nfe=0.7403;AF_fin=0.7620;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7418;non_neuro_AF_popmax=0.7408;non_cancer_AF_popmax=.;controls_AF_popmax=0.7486;Kaviar_AF=0.131945;Kaviar_AC=20399;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079509 rs12452721 T G 100 PASS AC=165;AF=0.605631;AN=214;NS=2504;DP=16577;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5234;EUR_AF=0.7535;SAS_AF=0.6738;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.605631;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12452721;CLNALLELEID=256515;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7352;ExAC_nontcga_ALL=0.6719;ExAC_nontcga_AFR=0.5401;ExAC_nontcga_AMR=0.4536;ExAC_nontcga_EAS=0.5247;ExAC_nontcga_FIN=0.7626;ExAC_nontcga_NFE=0.7462;ExAC_nontcga_OTH=0.7246;ExAC_nontcga_SAS=0.6782;AF=0.6687;AF_popmax=0.7396;AF_male=0.6618;AF_female=0.6773;AF_raw=0.6683;AF_afr=0.5365;AF_sas=.;AF_amr=0.5130;AF_eas=0.5374;AF_nfe=0.7396;AF_fin=0.7621;AF_asj=0.7552;AF_oth=0.7068;non_topmed_AF_popmax=0.7408;non_neuro_AF_popmax=0.7398;non_cancer_AF_popmax=.;controls_AF_popmax=0.7476;Kaviar_AF=0.664513;Kaviar_AC=102735;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.713393;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079544 rs3816256 C G 100 PASS AC=165;AF=0.602835;AN=214;NS=2504;DP=17006;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6626;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816256;CLNALLELEID=98394;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7384;ExAC_nontcga_ALL=0.6714;ExAC_nontcga_AFR=0.5403;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5271;ExAC_nontcga_FIN=0.7639;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6702;AF=0.6687;AF_popmax=0.7403;AF_male=0.6617;AF_female=0.6776;AF_raw=0.6681;AF_afr=0.5352;AF_sas=.;AF_amr=0.5130;AF_eas=0.5402;AF_nfe=0.7403;AF_fin=0.7620;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7418;non_neuro_AF_popmax=0.7407;non_cancer_AF_popmax=.;controls_AF_popmax=0.7486;Kaviar_AF=0.664603;Kaviar_AC=102749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.486055;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079597 rs1042393 A G 100 PASS AC=165;AF=0.600839;AN=214;NS=2504;DP=17700;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6524;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;1000g2015aug_all=0.600839;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042393;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_converted_rankscore=0.153;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-3.41;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=-1.81;FATHMM_converted_rankscore=0.840;FATHMM_pred=D;PROVEAN_score=1.71;PROVEAN_converted_rankscore=0.006;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.211;MetaSVM_score=-0.892;MetaSVM_rankscore=0.487;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.974;CADD_raw_rankscore=0.008;CADD_phred=0.001;DANN_score=0.420;DANN_rankscore=0.030;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.901;Eigen-PC-raw=-1.780;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-2.36;GERP++_RS_rankscore=0.062;phyloP100way_vertebrate=-0.030;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.388;phyloP20way_mammalian_rankscore=0.064;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=12.466;SiPhy_29way_logOdds_rankscore=0.549;Interpro_domain=Galactose_mutarotase,_N-terminal_barrel|Galactose_mutarotase-like_domain;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7383;ExAC_nontcga_ALL=0.6701;ExAC_nontcga_AFR=0.5399;ExAC_nontcga_AMR=0.4559;ExAC_nontcga_EAS=0.5272;ExAC_nontcga_FIN=0.7637;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6620;AF=0.6686;AF_popmax=0.7401;AF_male=0.6617;AF_female=0.6773;AF_raw=0.6679;AF_afr=0.5349;AF_sas=.;AF_amr=0.5130;AF_eas=0.5394;AF_nfe=0.7401;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7089;non_topmed_AF_popmax=0.7416;non_neuro_AF_popmax=0.7404;non_cancer_AF_popmax=.;controls_AF_popmax=0.7483;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.528089;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079643 rs1800301 C T 100 PASS AC=52;AF=0.10603;AN=214;NS=2504;DP=17549;EAS_AF=0.002;AMR_AF=0.1138;AFR_AF=0.0582;EUR_AF=0.2276;SAS_AF=0.1472;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;1000g2015aug_all=0.10603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800301;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.22;ExAC_nontcga_ALL=0.1775;ExAC_nontcga_AFR=0.0768;ExAC_nontcga_AMR=0.0952;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.2508;ExAC_nontcga_NFE=0.2309;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.1671;AF=0.1661;AF_popmax=0.2145;AF_male=0.1645;AF_female=0.1682;AF_raw=0.1663;AF_afr=0.0736;AF_sas=.;AF_amr=0.1123;AF_eas=0;AF_nfe=0.2145;AF_fin=0.2545;AF_asj=0.2917;AF_oth=0.1851;non_topmed_AF_popmax=0.2121;non_neuro_AF_popmax=0.2168;non_cancer_AF_popmax=.;controls_AF_popmax=0.2080;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.623896;ALLELE_END GT 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 +17 78079669 rs1042395 G A 100 PASS AC=165;AF=0.602436;AN=214;NS=2504;DP=16963;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6605;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042395;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_rankscore=0.282;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_rankscore=0.184;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=3.27;MutationAssessor_score_rankscore=0.903;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_converted_rankscore=0.854;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.387;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.431;MetaSVM_score=-0.910;MetaSVM_rankscore=0.468;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.389;REVEL_rankscore=0.709;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.133;CADD_raw_rankscore=0.203;CADD_phred=11.39;DANN_score=0.799;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.567;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=1.76;GERP++_RS_rankscore=0.237;phyloP100way_vertebrate=-0.036;phyloP100way_vertebrate_rankscore=0.120;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.204;phastCons20way_mammalian_rankscore=0.218;SiPhy_29way_logOdds=10.855;SiPhy_29way_logOdds_rankscore=0.458;Interpro_domain=Galactose_mutarotase,_N-terminal_barrel|Galactose_mutarotase-like_domain;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7381;ExAC_nontcga_ALL=0.6717;ExAC_nontcga_AFR=0.5410;ExAC_nontcga_AMR=0.4559;ExAC_nontcga_EAS=0.5269;ExAC_nontcga_FIN=0.7654;ExAC_nontcga_NFE=0.7474;ExAC_nontcga_OTH=0.7203;ExAC_nontcga_SAS=0.6702;AF=0.6684;AF_popmax=0.7399;AF_male=0.6614;AF_female=0.6772;AF_raw=0.6680;AF_afr=0.5353;AF_sas=.;AF_amr=0.5118;AF_eas=0.5361;AF_nfe=0.7399;AF_fin=0.7617;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7414;non_neuro_AF_popmax=0.7405;non_cancer_AF_popmax=.;controls_AF_popmax=0.7485;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.557421;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081307 rs78855075 C T 100 PASS AC=20;AF=0.0870607;AN=214;NS=2504;DP=13518;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.1884;EUR_AF=0.0736;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0870607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78855075;CLNALLELEID=256518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0719;ExAC_nontcga_ALL=0.0694;ExAC_nontcga_AFR=0.1603;ExAC_nontcga_AMR=0.0416;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0582;ExAC_nontcga_NFE=0.0651;ExAC_nontcga_OTH=0.0994;ExAC_nontcga_SAS=0.0894;AF=0.0888;AF_popmax=0.1582;AF_male=0.0893;AF_female=0.0882;AF_raw=0.0891;AF_afr=0.1582;AF_sas=.;AF_amr=0.0436;AF_eas=0.0013;AF_nfe=0.0702;AF_fin=0.0588;AF_asj=0.0483;AF_oth=0.0671;non_topmed_AF_popmax=0.1581;non_neuro_AF_popmax=0.1600;non_cancer_AF_popmax=.;controls_AF_popmax=0.1580;Kaviar_AF=0.0680328;Kaviar_AC=10518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081515 rs142626724 G A 100 PASS AC=4;AF=0.00239617;AN=214;NS=2504;DP=13567;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142626724;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0027;AF=0.0060;AF_popmax=0.0093;AF_male=0.0071;AF_female=0.0046;AF_raw=0.0056;AF_afr=0.0017;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0030;AF_asj=0.0181;AF_oth=0.0091;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0094;non_cancer_AF_popmax=.;controls_AF_popmax=0.0066;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.375628;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142626724;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0027;AF=0.0060;AF_popmax=0.0093;AF_male=0.0071;AF_female=0.0046;AF_raw=0.0056;AF_afr=0.0017;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0030;AF_asj=0.0181;AF_oth=0.0091;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0094;non_cancer_AF_popmax=.;controls_AF_popmax=0.0066;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.375628;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081526 rs372331052;rs570717926 AGCGGCGG AGCAGCGGGCGGCGG 100 PASS AC=164;AF=0.592851;AN=214;NS=2504;DP=17040;EAS_AF=0.5337;AMR_AF=0.5288;AFR_AF=0.5083;EUR_AF=0.7495;SAS_AF=0.6524;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.592851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3071247;CLNALLELEID=98398;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6684;ExAC_nontcga_AFR=0.5336;ExAC_nontcga_AMR=0.4497;ExAC_nontcga_EAS=0.5240;ExAC_nontcga_FIN=0.7604;ExAC_nontcga_NFE=0.7455;ExAC_nontcga_OTH=0.7119;ExAC_nontcga_SAS=0.6659;AF=0.6590;AF_popmax=0.7305;AF_male=0.6520;AF_female=0.6679;AF_raw=0.6575;AF_afr=0.5212;AF_sas=.;AF_amr=0.5106;AF_eas=0.5281;AF_nfe=0.7305;AF_fin=0.7596;AF_asj=0.7535;AF_oth=0.7028;non_topmed_AF_popmax=0.7320;non_neuro_AF_popmax=0.7307;non_cancer_AF_popmax=.;controls_AF_popmax=0.7421;Kaviar_AF=0.0061254;Kaviar_AC=947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.919469;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.592851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3071247;CLNALLELEID=98398;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6684;ExAC_nontcga_AFR=0.5336;ExAC_nontcga_AMR=0.4497;ExAC_nontcga_EAS=0.5240;ExAC_nontcga_FIN=0.7604;ExAC_nontcga_NFE=0.7455;ExAC_nontcga_OTH=0.7119;ExAC_nontcga_SAS=0.6659;AF=0.6590;AF_popmax=0.7305;AF_male=0.6520;AF_female=0.6679;AF_raw=0.6575;AF_afr=0.5212;AF_sas=.;AF_amr=0.5106;AF_eas=0.5281;AF_nfe=0.7305;AF_fin=0.7596;AF_asj=0.7535;AF_oth=0.7028;non_topmed_AF_popmax=0.7320;non_neuro_AF_popmax=0.7307;non_cancer_AF_popmax=.;controls_AF_popmax=0.7421;Kaviar_AF=0.0061254;Kaviar_AC=947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.919469;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081551 rs2304845 T C 100 PASS AC=164;AF=0.601038;AN=214;NS=2504;DP=10715;EAS_AF=0.5437;AMR_AF=0.5403;AFR_AF=0.5174;EUR_AF=0.7515;SAS_AF=0.6616;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.601038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304845;CLNALLELEID=177734;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7315;ExAC_nontcga_ALL=0.6708;ExAC_nontcga_AFR=0.5313;ExAC_nontcga_AMR=0.4586;ExAC_nontcga_EAS=0.5309;ExAC_nontcga_FIN=0.7624;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7114;ExAC_nontcga_SAS=0.6697;AF=0.6589;AF_popmax=0.7302;AF_male=0.6518;AF_female=0.6678;AF_raw=0.6579;AF_afr=0.5220;AF_sas=.;AF_amr=0.5106;AF_eas=0.5253;AF_nfe=0.7302;AF_fin=0.7598;AF_asj=0.7535;AF_oth=0.7019;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7305;non_cancer_AF_popmax=.;controls_AF_popmax=0.7429;Kaviar_AF=0.586629;Kaviar_AC=90694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.040998;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.601038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304845;CLNALLELEID=177734;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7315;ExAC_nontcga_ALL=0.6708;ExAC_nontcga_AFR=0.5313;ExAC_nontcga_AMR=0.4586;ExAC_nontcga_EAS=0.5309;ExAC_nontcga_FIN=0.7624;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7114;ExAC_nontcga_SAS=0.6697;AF=0.6589;AF_popmax=0.7302;AF_male=0.6518;AF_female=0.6678;AF_raw=0.6579;AF_afr=0.5220;AF_sas=.;AF_amr=0.5106;AF_eas=0.5253;AF_nfe=0.7302;AF_fin=0.7598;AF_asj=0.7535;AF_oth=0.7019;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7305;non_cancer_AF_popmax=.;controls_AF_popmax=0.7429;Kaviar_AF=0.586629;Kaviar_AC=90694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.040998;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081655 rs150343359 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13298;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.G915A:p.G305G,GAA:NM_001079804:exon5:c.G915A:p.G305G,GAA:NM_001079803:exon6:c.G915A:p.G305G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150343359;CLNALLELEID=186555;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0004;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.505217;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081661 rs1800303 A T 100 PASS AC=20;AF=0.110224;AN=214;NS=2504;DP=12980;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.2716;EUR_AF=0.0736;SAS_AF=0.0808;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.A921T:p.A307A,GAA:NM_001079804:exon5:c.A921T:p.A307A,GAA:NM_001079803:exon6:c.A921T:p.A307A;1000g2015aug_all=0.110224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800303;CLNALLELEID=98399;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0719;ExAC_nontcga_ALL=0.0800;ExAC_nontcga_AFR=0.2456;ExAC_nontcga_AMR=0.0505;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0664;ExAC_nontcga_NFE=0.0680;ExAC_nontcga_OTH=0.1166;ExAC_nontcga_SAS=0.0926;AF=0.1110;AF_popmax=0.2374;AF_male=0.1126;AF_female=0.1090;AF_raw=0.1110;AF_afr=0.2374;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0702;AF_fin=0.0588;AF_asj=0.0483;AF_oth=0.0717;non_topmed_AF_popmax=0.2376;non_neuro_AF_popmax=0.2433;non_cancer_AF_popmax=.;controls_AF_popmax=0.2390;Kaviar_AF=0.0723212;Kaviar_AC=11181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.695166;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081707 rs2252455 G A 100 PASS AC=165;AF=0.604433;AN=214;NS=2504;DP=13236;EAS_AF=0.5446;AMR_AF=0.5418;AFR_AF=0.5189;EUR_AF=0.7545;SAS_AF=0.6718;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.604433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252455;CLNALLELEID=98400;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7545;ExAC_nontcga_ALL=0.7479;ExAC_nontcga_AFR=0.6388;ExAC_nontcga_AMR=0.6274;ExAC_nontcga_EAS=0.6329;ExAC_nontcga_FIN=0.8270;ExAC_nontcga_NFE=0.7979;ExAC_nontcga_OTH=0.7768;ExAC_nontcga_SAS=0.7114;AF=0.6673;AF_popmax=0.7398;AF_male=0.6604;AF_female=0.6760;AF_raw=0.6665;AF_afr=0.5305;AF_sas=.;AF_amr=0.5142;AF_eas=0.5381;AF_nfe=0.7398;AF_fin=0.7623;AF_asj=0.7552;AF_oth=0.7072;non_topmed_AF_popmax=0.7411;non_neuro_AF_popmax=0.7401;non_cancer_AF_popmax=.;controls_AF_popmax=0.7479;Kaviar_AF=0.6232;Kaviar_AC=96348;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.689936;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081786 rs533029286 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15292;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533029286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.352252;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78082221 rs41292402 C T 100 PASS AC=2;AF=0.00519169;AN=214;NS=2504;DP=15135;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292402;CLNALLELEID=98369;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0044;AF=0.0096;AF_popmax=0.0142;AF_male=0.0103;AF_female=0.0088;AF_raw=0.0096;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0107;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0107631;Kaviar_AC=1664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.017227;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292402;CLNALLELEID=98369;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0044;AF=0.0096;AF_popmax=0.0142;AF_male=0.0103;AF_female=0.0088;AF_raw=0.0096;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0107;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0107631;Kaviar_AC=1664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.017227;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78082504 rs1800304 G A 100 PASS AC=164;AF=0.602835;AN=214;NS=2504;DP=14982;EAS_AF=0.5427;AMR_AF=0.5418;AFR_AF=0.5166;EUR_AF=0.7515;SAS_AF=0.6718;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;1000g2015aug_all=0.602835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800304;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6747;ExAC_nontcga_AFR=0.5430;ExAC_nontcga_AMR=0.4590;ExAC_nontcga_EAS=0.5299;ExAC_nontcga_FIN=0.7669;ExAC_nontcga_NFE=0.7487;ExAC_nontcga_OTH=0.7294;ExAC_nontcga_SAS=0.6769;AF=0.6664;AF_popmax=0.7394;AF_male=0.6593;AF_female=0.6753;AF_raw=0.6662;AF_afr=0.5291;AF_sas=.;AF_amr=0.5142;AF_eas=0.5369;AF_nfe=0.7394;AF_fin=0.7627;AF_asj=0.7552;AF_oth=0.7057;non_topmed_AF_popmax=0.7405;non_neuro_AF_popmax=0.7397;non_cancer_AF_popmax=.;controls_AF_popmax=0.7477;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.416633;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78083726 rs2278619 A G 100 PASS AC=165;AF=0.711661;AN=214;NS=2504;DP=14987;EAS_AF=0.6488;AMR_AF=0.5634;AFR_AF=0.7118;EUR_AF=0.7604;SAS_AF=0.8313;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.711661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278619;CLNALLELEID=98371;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7486;ExAC_nontcga_ALL=0.7299;ExAC_nontcga_AFR=0.7010;ExAC_nontcga_AMR=0.4956;ExAC_nontcga_EAS=0.6234;ExAC_nontcga_FIN=0.7962;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7631;ExAC_nontcga_SAS=0.8173;AF=0.7262;AF_popmax=0.7527;AF_male=0.7207;AF_female=0.7331;AF_raw=0.7262;AF_afr=0.6873;AF_sas=.;AF_amr=0.5437;AF_eas=0.6147;AF_nfe=0.7527;AF_fin=0.7928;AF_asj=0.7759;AF_oth=0.7389;non_topmed_AF_popmax=0.7539;non_neuro_AF_popmax=0.7531;non_cancer_AF_popmax=.;controls_AF_popmax=0.7623;Kaviar_AF=0.720638;Kaviar_AC=111412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.262501;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1940686|N/A|TP53|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.719453;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78083791 rs1800305 C T 100 PASS AC=20;AF=0.0982428;AN=214;NS=2504;DP=15097;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.2284;EUR_AF=0.0736;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon9:c.C1374T:p.Y458Y,GAA:NM_001079804:exon9:c.C1374T:p.Y458Y,GAA:NM_001079803:exon10:c.C1374T:p.Y458Y;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800305;CLNALLELEID=98372;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0715;ExAC_nontcga_ALL=0.0729;ExAC_nontcga_AFR=0.1977;ExAC_nontcga_AMR=0.0440;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0583;ExAC_nontcga_NFE=0.0654;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.0897;AF=0.0987;AF_popmax=0.1930;AF_male=0.0997;AF_female=0.0974;AF_raw=0.0990;AF_afr=0.1930;AF_sas=.;AF_amr=0.0460;AF_eas=0.0026;AF_nfe=0.0701;AF_fin=0.0587;AF_asj=0.0483;AF_oth=0.0700;non_topmed_AF_popmax=0.1928;non_neuro_AF_popmax=0.1929;non_cancer_AF_popmax=.;controls_AF_popmax=0.1912;Kaviar_AF=0.0713251;Kaviar_AC=11027;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.727705;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78084459 rs572227225 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17463;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572227225;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.923924;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78084507 rs2304844 G C 100 PASS AC=164;AF=0.603035;AN=214;NS=2504;DP=15752;EAS_AF=0.5417;AMR_AF=0.5432;AFR_AF=0.5182;EUR_AF=0.7515;SAS_AF=0.6708;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.603035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304844;CLNALLELEID=98373;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7379;ExAC_nontcga_ALL=0.6719;ExAC_nontcga_AFR=0.5361;ExAC_nontcga_AMR=0.4567;ExAC_nontcga_EAS=0.5259;ExAC_nontcga_FIN=0.7638;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7289;ExAC_nontcga_SAS=0.6755;AF=0.6666;AF_popmax=0.7392;AF_male=0.6593;AF_female=0.6757;AF_raw=0.6663;AF_afr=0.5297;AF_sas=.;AF_amr=0.5154;AF_eas=0.5388;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7404;non_neuro_AF_popmax=0.7395;non_cancer_AF_popmax=.;controls_AF_popmax=0.7480;Kaviar_AF=0.661958;Kaviar_AC=102340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.704587;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78084688 rs2304843 C A 100 PASS AC=164;AF=0.599241;AN=214;NS=2504;DP=17049;EAS_AF=0.5427;AMR_AF=0.5432;AFR_AF=0.5113;EUR_AF=0.7515;SAS_AF=0.6595;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304843;CLNALLELEID=256521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6704;ExAC_nontcga_AFR=0.5325;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5284;ExAC_nontcga_FIN=0.7643;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6670;AF=0.6658;AF_popmax=0.7392;AF_male=0.6585;AF_female=0.6751;AF_raw=0.6656;AF_afr=0.5278;AF_sas=.;AF_amr=0.5142;AF_eas=0.5362;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7048;non_topmed_AF_popmax=0.7406;non_neuro_AF_popmax=0.7396;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.661828;Kaviar_AC=102320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.264075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.468177;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304843;CLNALLELEID=256521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6704;ExAC_nontcga_AFR=0.5325;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5284;ExAC_nontcga_FIN=0.7643;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6670;AF=0.6658;AF_popmax=0.7392;AF_male=0.6585;AF_female=0.6751;AF_raw=0.6656;AF_afr=0.5278;AF_sas=.;AF_amr=0.5142;AF_eas=0.5362;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7048;non_topmed_AF_popmax=0.7406;non_neuro_AF_popmax=0.7396;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.661828;Kaviar_AC=102320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.264075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.468177;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78084727 rs111261964 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17044;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111261964;CLNALLELEID=256522;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0035;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0037;AF_raw=0.0035;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0017;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0052;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0028913;Kaviar_AC=447;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.076528;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78084769 rs1042396 G A 100 PASS AC=59;AF=0.159545;AN=214;NS=2504;DP=17055;EAS_AF=0.1091;AMR_AF=0.2579;AFR_AF=0.034;EUR_AF=0.2724;SAS_AF=0.1953;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R;1000g2015aug_all=0.159545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042396;CLNALLELEID=98375;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2816;ExAC_nontcga_ALL=0.2284;ExAC_nontcga_AFR=0.0627;ExAC_nontcga_AMR=0.2268;ExAC_nontcga_EAS=0.1220;ExAC_nontcga_FIN=0.2367;ExAC_nontcga_NFE=0.2746;ExAC_nontcga_OTH=0.2312;ExAC_nontcga_SAS=0.2156;AF=0.1982;AF_popmax=0.2710;AF_male=0.1942;AF_female=0.2031;AF_raw=0.1983;AF_afr=0.0620;AF_sas=.;AF_amr=0.2494;AF_eas=0.1175;AF_nfe=0.2710;AF_fin=0.2239;AF_asj=0.2292;AF_oth=0.2440;non_topmed_AF_popmax=0.2655;non_neuro_AF_popmax=0.2706;non_cancer_AF_popmax=.;controls_AF_popmax=0.2578;Kaviar_AF=0.232131;Kaviar_AC=35888;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.231061::-0.523644;Heart_Left_Ventricle=Heart_Left_Ventricle::0.239852::-0.469868;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.582472;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|1 +17 78084887 rs543529463 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15395;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543529463;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.953601;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78085710 rs2304841 T G 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=10923;EAS_AF=0.0099;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0039;AF_male=0.0003;AF_female=7.217e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0006531;Kaviar_AC=17;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.193653;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78085911 rs2304840 G A 100 PASS AC=5;AF=0.063099;AN=214;NS=2504;DP=14692;EAS_AF=0.0456;AMR_AF=0.0375;AFR_AF=0.0726;EUR_AF=0.0567;SAS_AF=0.093;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.063099;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304840;CLNALLELEID=98377;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0628;ExAC_nontcga_ALL=0.0571;ExAC_nontcga_AFR=0.0786;ExAC_nontcga_AMR=0.0234;ExAC_nontcga_EAS=0.0315;ExAC_nontcga_FIN=0.0504;ExAC_nontcga_NFE=0.0621;ExAC_nontcga_OTH=0.0564;ExAC_nontcga_SAS=0.0671;AF=0.0648;AF_popmax=0.0755;AF_male=0.0645;AF_female=0.0652;AF_raw=0.0649;AF_afr=0.0755;AF_sas=.;AF_amr=0.0236;AF_eas=0.0386;AF_nfe=0.0660;AF_fin=0.0571;AF_asj=0.0451;AF_oth=0.0627;non_topmed_AF_popmax=0.0746;non_neuro_AF_popmax=0.0670;non_cancer_AF_popmax=.;controls_AF_popmax=0.0728;Kaviar_AF=0.0576707;Kaviar_AC=8916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.074921;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086531 rs2304837 G A 100 PASS AC=9;AF=0.0778754;AN=214;NS=2504;DP=13847;EAS_AF=0.2391;AMR_AF=0.0331;AFR_AF=0.0098;EUR_AF=0.0378;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304837;CLNALLELEID=256526;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0313;ExAC_nontcga_ALL=0.0748;ExAC_nontcga_AFR=0.0264;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0.2832;ExAC_nontcga_FIN=0.0914;ExAC_nontcga_NFE=0.0557;ExAC_nontcga_OTH=0.0635;ExAC_nontcga_SAS=0.0727;AF=0.0528;AF_popmax=0.2458;AF_male=0.0519;AF_female=0.0538;AF_raw=0.0530;AF_afr=0.0203;AF_sas=.;AF_amr=0.0212;AF_eas=0.2458;AF_nfe=0.0471;AF_fin=0.0783;AF_asj=0.0517;AF_oth=0.0599;non_topmed_AF_popmax=0.2447;non_neuro_AF_popmax=0.2458;non_cancer_AF_popmax=.;controls_AF_popmax=0.2319;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.553209;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 78086846 rs2304836 A G 100 PASS AC=166;AF=0.715056;AN=214;NS=2504;DP=13277;EAS_AF=0.6508;AMR_AF=0.5677;AFR_AF=0.7179;EUR_AF=0.7634;SAS_AF=0.8323;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.715056;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304836;CLNALLELEID=98379;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7513;ExAC_nontcga_ALL=0.7437;ExAC_nontcga_AFR=0.7100;ExAC_nontcga_AMR=0.5354;ExAC_nontcga_EAS=0.6373;ExAC_nontcga_FIN=0.7884;ExAC_nontcga_NFE=0.7731;ExAC_nontcga_OTH=0.7702;ExAC_nontcga_SAS=0.8230;AF=0.7274;AF_popmax=0.7527;AF_male=0.7217;AF_female=0.7346;AF_raw=0.7273;AF_afr=0.6920;AF_sas=.;AF_amr=0.5448;AF_eas=0.6138;AF_nfe=0.7527;AF_fin=0.7923;AF_asj=0.7690;AF_oth=0.7389;non_topmed_AF_popmax=0.7540;non_neuro_AF_popmax=0.7533;non_cancer_AF_popmax=.;controls_AF_popmax=0.7611;Kaviar_AF=0.67818;Kaviar_AC=104848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.071406;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78086869 rs562914824 A C 100 PASS AC=4;AF=0.0463259;AN=214;NS=2504;DP=13149;EAS_AF=0.0813;AMR_AF=0.0591;AFR_AF=0.0295;EUR_AF=0.0437;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562914824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.199e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.308e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662183;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78086892 rs2304835 C T 100 PASS AC=6;AF=0.0638978;AN=214;NS=2504;DP=13599;EAS_AF=0.0536;AMR_AF=0.0389;AFR_AF=0.0681;EUR_AF=0.0586;SAS_AF=0.092;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0658;AF_popmax=0.0703;AF_male=0.0653;AF_female=0.0665;AF_raw=0.0660;AF_afr=0.0703;AF_sas=.;AF_amr=0.0236;AF_eas=0.0442;AF_nfe=0.0701;AF_fin=0.0582;AF_asj=0.0448;AF_oth=0.0638;non_topmed_AF_popmax=0.0730;non_neuro_AF_popmax=0.0692;non_cancer_AF_popmax=.;controls_AF_popmax=0.0760;Kaviar_AF=0.058975;Kaviar_AC=1535;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.195822;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086895 rs2304834 A G 100 PASS AC=6;AF=0.0621006;AN=214;NS=2504;DP=13747;EAS_AF=0.0536;AMR_AF=0.0389;AFR_AF=0.0613;EUR_AF=0.0586;SAS_AF=0.092;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304834;CLNALLELEID=549181;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0629;AF_popmax=0.0704;AF_male=0.0621;AF_female=0.0639;AF_raw=0.0630;AF_afr=0.0595;AF_sas=.;AF_amr=0.0224;AF_eas=0.0442;AF_nfe=0.0704;AF_fin=0.0584;AF_asj=0.0448;AF_oth=0.0612;non_topmed_AF_popmax=0.0734;non_neuro_AF_popmax=0.0695;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.0567466;Kaviar_AC=1477;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.195822;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086953 rs2304833 G A 100 PASS AC=67;AF=0.228035;AN=214;NS=2504;DP=13998;EAS_AF=0.1964;AMR_AF=0.1671;AFR_AF=0.1566;EUR_AF=0.3181;SAS_AF=0.3078;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2655;AF_popmax=0.3130;AF_male=0.2639;AF_female=0.2675;AF_raw=0.2655;AF_afr=0.1703;AF_sas=.;AF_amr=0.1592;AF_eas=0.1673;AF_nfe=0.3130;AF_fin=0.3504;AF_asj=0.3414;AF_oth=0.2874;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3141;non_cancer_AF_popmax=.;controls_AF_popmax=0.3207;Kaviar_AF=0.265868;Kaviar_AC=6920;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.287196;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 +17 78087041 rs1800309 G A 100 PASS AC=9;AF=0.0780751;AN=214;NS=2504;DP=15765;EAS_AF=0.2401;AMR_AF=0.0346;AFR_AF=0.0091;EUR_AF=0.0378;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.G2065A:p.E689K,GAA:NM_001079804:exon15:c.G2065A:p.E689K,GAA:NM_001079803:exon16:c.G2065A:p.E689K;1000g2015aug_all=0.0780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800309;CLNALLELEID=19069;CLNDN=Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=.|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other;SIFT_score=0.35;SIFT_converted_rankscore=0.123;SIFT_pred=T;Polyphen2_HDIV_score=0.092;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_rankscore=0.266;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_converted_rankscore=0.284;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.208;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_score_rankscore=0.271;MutationAssessor_pred=L;FATHMM_score=-3.23;FATHMM_converted_rankscore=0.934;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_converted_rankscore=0.297;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.094;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.160;REVEL_rankscore=0.420;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.321;CADD_raw_rankscore=0.340;CADD_phred=18.31;DANN_score=0.933;DANN_rankscore=0.224;fathmm-MKL_coding_score=0.520;fathmm-MKL_coding_rankscore=0.288;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.513;Eigen-PC-raw=-0.455;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.731;integrated_fitCons_score_rankscore=0.878;integrated_confidence_value=0;GERP++_RS=1.49;GERP++_RS_rankscore=0.219;phyloP100way_vertebrate=2.049;phyloP100way_vertebrate_rankscore=0.407;phyloP20way_mammalian=0.072;phyloP20way_mammalian_rankscore=0.180;phastCons100way_vertebrate=0.669;phastCons100way_vertebrate_rankscore=0.281;phastCons20way_mammalian=0.911;phastCons20way_mammalian_rankscore=0.388;SiPhy_29way_logOdds=6.571;SiPhy_29way_logOdds_rankscore=0.216;Interpro_domain=Glycoside_hydrolase_superfamily;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0922;ExAC_nontcga_AFR=0.0296;ExAC_nontcga_AMR=0.0471;ExAC_nontcga_EAS=0.3176;ExAC_nontcga_FIN=0.1277;ExAC_nontcga_NFE=0.0714;ExAC_nontcga_OTH=0.0734;ExAC_nontcga_SAS=0.0810;AF=0.0530;AF_popmax=0.2462;AF_male=0.0521;AF_female=0.0541;AF_raw=0.0531;AF_afr=0.0206;AF_sas=.;AF_amr=0.0212;AF_eas=0.2462;AF_nfe=0.0473;AF_fin=0.0783;AF_asj=0.0517;AF_oth=0.0600;non_topmed_AF_popmax=0.2451;non_neuro_AF_popmax=0.2462;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0494172;Kaviar_AC=7640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.667593;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 78087109 rs1800310 A G 100 PASS AC=71;AF=0.241613;AN=214;NS=2504;DP=16100;EAS_AF=0.3819;AMR_AF=0.1643;AFR_AF=0.0877;EUR_AF=0.3052;SAS_AF=0.2945;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;1000g2015aug_all=0.241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800310;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2793;ExAC_nontcga_ALL=0.3459;ExAC_nontcga_AFR=0.1546;ExAC_nontcga_AMR=0.2339;ExAC_nontcga_EAS=0.4245;ExAC_nontcga_FIN=0.4765;ExAC_nontcga_NFE=0.3797;ExAC_nontcga_OTH=0.3466;ExAC_nontcga_SAS=0.3215;AF=0.2541;AF_popmax=0.3692;AF_male=0.2523;AF_female=0.2563;AF_raw=0.2539;AF_afr=0.1135;AF_sas=.;AF_amr=0.1616;AF_eas=0.3692;AF_nfe=0.2965;AF_fin=0.3718;AF_asj=0.3483;AF_oth=0.2870;non_topmed_AF_popmax=0.3699;non_neuro_AF_popmax=0.3692;non_cancer_AF_popmax=.;controls_AF_popmax=0.3435;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.724578;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|0 0|1 1|0 0|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 +17 78090928 rs2304832 G A 100 PASS AC=166;AF=0.789337;AN=214;NS=2504;DP=17134;EAS_AF=0.6498;AMR_AF=0.5965;AFR_AF=0.9834;EUR_AF=0.7654;SAS_AF=0.8323;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.789337;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304832;CLNALLELEID=98383;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7530;ExAC_nontcga_ALL=0.7551;ExAC_nontcga_AFR=0.9557;ExAC_nontcga_AMR=0.5116;ExAC_nontcga_EAS=0.6164;ExAC_nontcga_FIN=0.7973;ExAC_nontcga_NFE=0.7679;ExAC_nontcga_OTH=0.7657;ExAC_nontcga_SAS=0.8170;AF=0.8009;AF_popmax=0.9474;AF_male=0.7971;AF_female=0.8055;AF_raw=0.8003;AF_afr=0.9474;AF_sas=.;AF_amr=0.5615;AF_eas=0.6064;AF_nfe=0.7549;AF_fin=0.7930;AF_asj=0.7966;AF_oth=0.7671;non_topmed_AF_popmax=0.9472;non_neuro_AF_popmax=0.9442;non_cancer_AF_popmax=.;controls_AF_popmax=0.9407;Kaviar_AF=0.73446;Kaviar_AC=113549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.253676::-0.296557;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.377457;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78090932 rs2304831 T C 100 PASS AC=14;AF=0.207069;AN=214;NS=2504;DP=17311;EAS_AF=0.3611;AMR_AF=0.085;AFR_AF=0.1747;EUR_AF=0.0994;SAS_AF=0.2894;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207069;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304831;CLNALLELEID=256528;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1056;ExAC_nontcga_ALL=0.1576;ExAC_nontcga_AFR=0.1693;ExAC_nontcga_AMR=0.0834;ExAC_nontcga_EAS=0.3393;ExAC_nontcga_FIN=0.1508;ExAC_nontcga_NFE=0.1188;ExAC_nontcga_OTH=0.1329;ExAC_nontcga_SAS=0.2458;AF=0.1499;AF_popmax=0.3329;AF_male=0.1473;AF_female=0.1532;AF_raw=0.1505;AF_afr=0.1653;AF_sas=.;AF_amr=0.0731;AF_eas=0.3329;AF_nfe=0.1240;AF_fin=0.1642;AF_asj=0.1103;AF_oth=0.1571;non_topmed_AF_popmax=0.3327;non_neuro_AF_popmax=0.3329;non_cancer_AF_popmax=.;controls_AF_popmax=0.3194;Kaviar_AF=0.146719;Kaviar_AC=22683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +17 78091359 rs201904830 C G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17257;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201904830;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0077;AF=0.0042;AF_popmax=0.0068;AF_male=0.0042;AF_female=0.0042;AF_raw=0.0042;AF_afr=0.0014;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0009;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0055433;Kaviar_AC=857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.061299;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78091405 rs1126690 G A 100 PASS AC=165;AF=0.711861;AN=214;NS=2504;DP=16814;EAS_AF=0.6498;AMR_AF=0.5519;AFR_AF=0.7156;EUR_AF=0.7624;SAS_AF=0.8323;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;1000g2015aug_all=0.711861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126690;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_converted_rankscore=0.051;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=-2.58;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.041;MetaSVM_score=-0.975;MetaSVM_rankscore=0.361;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.161;REVEL_rankscore=0.422;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.394;CADD_raw_rankscore=0.062;CADD_phred=0.400;DANN_score=0.651;DANN_rankscore=0.075;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.072;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.540;Eigen-PC-raw=-1.562;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.085;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-2.09;GERP++_RS_rankscore=0.068;phyloP100way_vertebrate=-1.089;phyloP100way_vertebrate_rankscore=0.035;phyloP20way_mammalian=-0.437;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.213;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=5.965;SiPhy_29way_logOdds_rankscore=0.184;Interpro_domain=.;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7499;ExAC_nontcga_ALL=0.7273;ExAC_nontcga_AFR=0.7002;ExAC_nontcga_AMR=0.4676;ExAC_nontcga_EAS=0.6170;ExAC_nontcga_FIN=0.7962;ExAC_nontcga_NFE=0.7655;ExAC_nontcga_OTH=0.7608;ExAC_nontcga_SAS=0.8168;AF=0.7268;AF_popmax=0.7531;AF_male=0.7205;AF_female=0.7349;AF_raw=0.7265;AF_afr=0.6929;AF_sas=.;AF_amr=0.5190;AF_eas=0.6060;AF_nfe=0.7531;AF_fin=0.7920;AF_asj=0.7674;AF_oth=0.7421;non_topmed_AF_popmax=0.7547;non_neuro_AF_popmax=0.7537;non_cancer_AF_popmax=.;controls_AF_popmax=0.7621;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.422464;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78091929 rs139912452 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16605;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139912452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.384e-05;AF_popmax=.;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.729624;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78092063 rs1042397 G A 100 PASS AC=151;AF=0.509385;AN=214;NS=2504;DP=17182;EAS_AF=0.2887;AMR_AF=0.4942;AFR_AF=0.5439;EUR_AF=0.663;SAS_AF=0.5429;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;1000g2015aug_all=0.509385;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042397;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6427;ExAC_nontcga_ALL=0.5760;ExAC_nontcga_AFR=0.5402;ExAC_nontcga_AMR=0.4158;ExAC_nontcga_EAS=0.2765;ExAC_nontcga_FIN=0.6494;ExAC_nontcga_NFE=0.6470;ExAC_nontcga_OTH=0.6279;ExAC_nontcga_SAS=0.5827;AF=0.5787;AF_popmax=0.6282;AF_male=0.5754;AF_female=0.5829;AF_raw=0.5782;AF_afr=0.5338;AF_sas=.;AF_amr=0.4717;AF_eas=0.2728;AF_nfe=0.6282;AF_fin=0.6269;AF_asj=0.6586;AF_oth=0.5860;non_topmed_AF_popmax=0.6210;non_neuro_AF_popmax=0.6297;non_cancer_AF_popmax=.;controls_AF_popmax=0.6136;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.294693;Heart_Left_Ventricle=Heart_Left_Ventricle::0.395221::-0.26054;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688943;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|1 +17 78092195 rs41292410 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=15181;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292410;CLNALLELEID=487921;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0027;AF=0.0047;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0045;AF_raw=0.0047;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0116;Kaviar_AF=0.0033699;Kaviar_AC=521;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.359759;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78092211 rs141765552 G T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=14632;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141765552;CLNALLELEID=487924;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0052;AF_popmax=0.0077;AF_male=0.0052;AF_female=0.0052;AF_raw=0.0052;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0076;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.412140;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78093011 rs55662462 G A 100 PASS AC=1;AF=0.0145767;AN=214;NS=2504;DP=14362;EAS_AF=0.001;AMR_AF=0.0735;AFR_AF=0.003;EUR_AF=0.008;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55662462;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0075;AF_popmax=0.1179;AF_male=0.0068;AF_female=0.0083;AF_raw=0.0076;AF_afr=0.0027;AF_sas=.;AF_amr=0.1179;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0102;non_topmed_AF_popmax=0.1210;non_neuro_AF_popmax=0.1209;non_cancer_AF_popmax=.;controls_AF_popmax=0.1382;Kaviar_AF=0.0028137;Kaviar_AC=435;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.270375;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78093221 rs2229221 G A 100 PASS AC=22;AF=0.120008;AN=214;NS=2504;DP=14747;EAS_AF=0;AMR_AF=0.0648;AFR_AF=0.292;EUR_AF=0.0875;SAS_AF=0.0838;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GAA;GeneDetail.refGene=NM_001079804:c.*91G>A\x3bNM_001079803:c.*91G>A\x3bNM_000152:c.*91G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229221;CLNALLELEID=347677;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1196;AF_popmax=0.2496;AF_male=0.1202;AF_female=0.1188;AF_raw=0.1197;AF_afr=0.2496;AF_sas=.;AF_amr=0.0542;AF_eas=0.0013;AF_nfe=0.0776;AF_fin=0.0699;AF_asj=0.0483;AF_oth=0.0772;non_topmed_AF_popmax=0.2501;non_neuro_AF_popmax=0.2552;non_cancer_AF_popmax=.;controls_AF_popmax=0.2496;Kaviar_AF=0.0159248;Kaviar_AC=2462;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0776515::-0.498686;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3067195 rs545359936 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18952;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYOM1;GeneDetail.refGene=NM_003803:c.*65G>A\x3bNM_019856:c.*65G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545359936;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3067278 rs2230164 A G 100 PASS AC=97;AF=0.594449;AN=214;NS=2504;DP=16407;EAS_AF=0.5308;AMR_AF=0.4207;AFR_AF=0.8533;EUR_AF=0.4652;SAS_AF=0.5665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G;1000g2015aug_all=0.594449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230164;CLNALLELEID=230806;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4664;ExAC_nontcga_ALL=0.5761;ExAC_nontcga_AFR=0.8047;ExAC_nontcga_AMR=0.4554;ExAC_nontcga_EAS=0.5871;ExAC_nontcga_FIN=0.6215;ExAC_nontcga_NFE=0.5434;ExAC_nontcga_OTH=0.5587;ExAC_nontcga_SAS=0.6016;AF=0.5761;AF_popmax=0.7949;AF_male=0.5771;AF_female=0.5747;AF_raw=0.5754;AF_afr=0.7949;AF_sas=.;AF_amr=0.375;AF_eas=0.5452;AF_nfe=0.4698;AF_fin=0.5803;AF_asj=0.4688;AF_oth=0.5424;non_topmed_AF_popmax=0.7956;non_neuro_AF_popmax=0.7958;non_cancer_AF_popmax=.;controls_AF_popmax=0.7947;Kaviar_AF=0.486417;Kaviar_AC=75201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|1 +18 3067599 rs7227886 A G 100 PASS AC=26;AF=0.0694888;AN=214;NS=2504;DP=19150;EAS_AF=0.001;AMR_AF=0.0548;AFR_AF=0.0961;EUR_AF=0.0875;SAS_AF=0.0961;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0694888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7227886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0816;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0992;ExAC_nontcga_AMR=0.0458;ExAC_nontcga_EAS=0.0012;ExAC_nontcga_FIN=0.0362;ExAC_nontcga_NFE=0.0808;ExAC_nontcga_OTH=0.0922;ExAC_nontcga_SAS=0.0936;AF=0.0722;AF_popmax=0.0970;AF_male=0.0737;AF_female=0.0704;AF_raw=0.0722;AF_afr=0.0970;AF_sas=.;AF_amr=0.0426;AF_eas=0;AF_nfe=0.0750;AF_fin=0.0337;AF_asj=0.1207;AF_oth=0.0726;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.0987;non_cancer_AF_popmax=.;controls_AF_popmax=0.0972;Kaviar_AF=0.0701737;Kaviar_AC=10849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +18 3075503 rs200055184;rs10667835 C CAAA 100 PASS AC=212;AF=0.992612;AN=214;NS=2504;DP=19011;EAS_AF=0.999;AMR_AF=0.9928;AFR_AF=0.9909;EUR_AF=0.9891;SAS_AF=0.9918;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.992612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10667835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9933;ExAC_nontcga_ALL=0.9964;ExAC_nontcga_AFR=0.9993;ExAC_nontcga_AMR=0.9977;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9930;ExAC_nontcga_NFE=0.9945;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9948;AF_popmax=1;AF_male=0.9951;AF_female=0.9944;AF_raw=0.9948;AF_afr=0.9989;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9925;AF_fin=0.9925;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 3075504 rs78687353 G A 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=18175;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78687353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075554 rs2298540 T C 100 PASS AC=21;AF=0.193291;AN=214;NS=2504;DP=19262;EAS_AF=0.3264;AMR_AF=0.1095;AFR_AF=0.1831;EUR_AF=0.1054;SAS_AF=0.2198;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.193291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1216;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1424;AF_popmax=0.3483;AF_male=0.1452;AF_female=0.1389;AF_raw=0.1428;AF_afr=0.1620;AF_sas=.;AF_amr=0.1108;AF_eas=0.3483;AF_nfe=0.1270;AF_fin=0.0857;AF_asj=0.0586;AF_oth=0.1381;non_topmed_AF_popmax=0.3478;non_neuro_AF_popmax=0.3483;non_cancer_AF_popmax=.;controls_AF_popmax=0.3403;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 +18 3075712 rs2298539 C A 100 PASS AC=98;AF=0.622804;AN=214;NS=2504;DP=19650;EAS_AF=0.5149;AMR_AF=0.4308;AFR_AF=0.9599;EUR_AF=0.4652;SAS_AF=0.5767;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.622804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298539;CLNALLELEID=230810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4632;ExAC_nontcga_ALL=0.5448;ExAC_nontcga_AFR=0.8834;ExAC_nontcga_AMR=0.3966;ExAC_nontcga_EAS=0.5255;ExAC_nontcga_FIN=0.5543;ExAC_nontcga_NFE=0.5032;ExAC_nontcga_OTH=0.4945;ExAC_nontcga_SAS=0.5858;AF=0.5915;AF_popmax=0.8783;AF_male=0.5924;AF_female=0.5903;AF_raw=0.5915;AF_afr=0.8783;AF_sas=.;AF_amr=0.375;AF_eas=0.5238;AF_nfe=0.4633;AF_fin=0.5484;AF_asj=0.4724;AF_oth=0.5450;non_topmed_AF_popmax=0.8790;non_neuro_AF_popmax=0.8800;non_cancer_AF_popmax=.;controls_AF_popmax=0.8802;Kaviar_AF=0.484994;Kaviar_AC=74981;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|1 0|0 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +18 3075746 rs1143657 G A 100 PASS AC=31;AF=0.183506;AN=214;NS=2504;DP=18427;EAS_AF=0.1875;AMR_AF=0.183;AFR_AF=0.1747;EUR_AF=0.2008;SAS_AF=0.1738;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A;1000g2015aug_all=0.183506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1143657;CLNALLELEID=230812;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1697;ExAC_nontcga_ALL=0.2172;ExAC_nontcga_AFR=0.1868;ExAC_nontcga_AMR=0.1926;ExAC_nontcga_EAS=0.2106;ExAC_nontcga_FIN=0.3389;ExAC_nontcga_NFE=0.2221;ExAC_nontcga_OTH=0.2403;ExAC_nontcga_SAS=0.1824;AF=0.1977;AF_popmax=0.1955;AF_male=0.1898;AF_female=0.2077;AF_raw=0.1977;AF_afr=0.1501;AF_sas=.;AF_amr=0.1651;AF_eas=0.1752;AF_nfe=0.1955;AF_fin=0.3333;AF_asj=0.2310;AF_oth=0.2260;non_topmed_AF_popmax=0.2076;non_neuro_AF_popmax=0.1962;non_cancer_AF_popmax=.;controls_AF_popmax=0.2412;Kaviar_AF=0.157812;Kaviar_AC=24398;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.460710;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075778 rs2298537 A C 100 PASS AC=31;AF=0.183506;AN=214;NS=2504;DP=18184;EAS_AF=0.1875;AMR_AF=0.183;AFR_AF=0.1747;EUR_AF=0.2008;SAS_AF=0.1738;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.183506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1614;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1748;ExAC_nontcga_AMR=0.1621;ExAC_nontcga_EAS=0.2035;ExAC_nontcga_FIN=0.3267;ExAC_nontcga_NFE=0.2104;ExAC_nontcga_OTH=0.2441;ExAC_nontcga_SAS=0.1714;AF=0.1986;AF_popmax=0.1957;AF_male=0.1906;AF_female=0.2086;AF_raw=0.1988;AF_afr=0.1531;AF_sas=.;AF_amr=0.1651;AF_eas=0.175;AF_nfe=0.1957;AF_fin=0.3331;AF_asj=0.2310;AF_oth=0.2252;non_topmed_AF_popmax=0.2077;non_neuro_AF_popmax=0.1964;non_cancer_AF_popmax=.;controls_AF_popmax=0.2409;Kaviar_AF=0.132586;Kaviar_AC=20498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075872 rs2298536 C G 100 PASS AC=31;AF=0.174121;AN=214;NS=2504;DP=18681;EAS_AF=0.1865;AMR_AF=0.183;AFR_AF=0.1392;EUR_AF=0.2018;SAS_AF=0.1738;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.174121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298536;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1892;AF_popmax=0.1953;AF_male=0.1810;AF_female=0.1995;AF_raw=0.1896;AF_afr=0.1211;AF_sas=.;AF_amr=0.1616;AF_eas=0.1748;AF_nfe=0.1953;AF_fin=0.3323;AF_asj=0.2257;AF_oth=0.2243;non_topmed_AF_popmax=0.2070;non_neuro_AF_popmax=0.1962;non_cancer_AF_popmax=.;controls_AF_popmax=0.2404;Kaviar_AF=0.168396;Kaviar_AC=4383;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3083922 rs141235627 A C 100 PASS AC=4;AF=0.00279553;AN=214;NS=2504;DP=18130;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141235627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0128;ExAC_nontcga_SAS=0.0033;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0027;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0006;AF_asj=0.0276;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0026649;Kaviar_AC=412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141235627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0128;ExAC_nontcga_SAS=0.0033;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0027;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0006;AF_asj=0.0276;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0026649;Kaviar_AC=412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3084152 rs8096747 C T 100 PASS AC=200;AF=0.863019;AN=214;NS=2504;DP=18917;EAS_AF=0.7411;AMR_AF=0.9712;AFR_AF=0.8464;EUR_AF=0.9254;SAS_AF=0.8701;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.863019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8096747;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9025;AF_popmax=0.9517;AF_male=0.8990;AF_female=0.9069;AF_raw=0.9022;AF_afr=0.8686;AF_sas=.;AF_amr=0.9517;AF_eas=0.7147;AF_nfe=0.9300;AF_fin=0.9318;AF_asj=0.9552;AF_oth=0.9072;non_topmed_AF_popmax=0.9531;non_neuro_AF_popmax=0.9422;non_cancer_AF_popmax=.;controls_AF_popmax=0.9403;Kaviar_AF=0.900607;Kaviar_AC=23441;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 +18 3085165 rs141988481 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17183;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141988481;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0004;AF_male=5.87e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.656e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3086065 rs3765623 C T 100 PASS AC=10;AF=0.0521166;AN=214;NS=2504;DP=19995;EAS_AF=0.0585;AMR_AF=0.0677;AFR_AF=0.0068;EUR_AF=0.0626;SAS_AF=0.0849;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon29:c.G3934A:p.D1312N,MYOM1:NM_003803:exon30:c.G4222A:p.D1408N;1000g2015aug_all=0.0521166;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3765623;CLNALLELEID=230818;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.581;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.809;Polyphen2_HVAR_rankscore=0.568;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_converted_rankscore=0.676;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_converted_rankscore=0.366;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.104;MetaSVM_score=-0.880;MetaSVM_rankscore=0.498;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.201;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.971;CADD_raw_rankscore=0.820;CADD_phred=27.7;DANN_score=0.999;DANN_rankscore=0.949;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.574;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.463;Eigen-PC-raw=0.514;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.877;phyloP100way_vertebrate_rankscore=0.855;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.535;SiPhy_29way_logOdds_rankscore=0.952;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0716;ExAC_nontcga_ALL=0.0737;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.0805;ExAC_nontcga_EAS=0.0463;ExAC_nontcga_FIN=0.0708;ExAC_nontcga_NFE=0.0794;ExAC_nontcga_OTH=0.0526;ExAC_nontcga_SAS=0.0974;AF=0.0582;AF_popmax=0.0806;AF_male=0.0577;AF_female=0.0588;AF_raw=0.0582;AF_afr=0.0140;AF_sas=.;AF_amr=0.0731;AF_eas=0.0558;AF_nfe=0.0806;AF_fin=0.0656;AF_asj=0.0241;AF_oth=0.0717;non_topmed_AF_popmax=0.0796;non_neuro_AF_popmax=0.0804;non_cancer_AF_popmax=.;controls_AF_popmax=0.0797;Kaviar_AF=0.0722306;Kaviar_AC=11167;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.549078;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3089123 rs5822736 CTATTT C 100 PASS AC=10;AF=0.0696885;AN=214;NS=2504;DP=16685;EAS_AF=0.0575;AMR_AF=0.072;AFR_AF=0.0719;EUR_AF=0.0626;SAS_AF=0.0849;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0696885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5822736;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0724;ExAC_nontcga_ALL=0.0838;ExAC_nontcga_AFR=0.0801;ExAC_nontcga_AMR=0.0898;ExAC_nontcga_EAS=0.0494;ExAC_nontcga_FIN=0.0723;ExAC_nontcga_NFE=0.0849;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.1002;AF=0.0754;AF_popmax=0.0804;AF_male=0.0755;AF_female=0.0752;AF_raw=0.0756;AF_afr=0.0749;AF_sas=.;AF_amr=0.0758;AF_eas=0.0559;AF_nfe=0.0804;AF_fin=0.0662;AF_asj=0.0241;AF_oth=0.0781;non_topmed_AF_popmax=0.0795;non_neuro_AF_popmax=0.0803;non_cancer_AF_popmax=.;controls_AF_popmax=0.0854;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3089522 rs948298 G T 100 PASS AC=173;AF=0.800319;AN=214;NS=2504;DP=15249;EAS_AF=0.7411;AMR_AF=0.9092;AFR_AF=0.8222;EUR_AF=0.8082;SAS_AF=0.7464;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.800319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs948298;CLNALLELEID=230819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7970;ExAC_nontcga_ALL=0.8087;ExAC_nontcga_AFR=0.8332;ExAC_nontcga_AMR=0.9143;ExAC_nontcga_EAS=0.7209;ExAC_nontcga_FIN=0.8406;ExAC_nontcga_NFE=0.8034;ExAC_nontcga_OTH=0.8506;ExAC_nontcga_SAS=0.7685;AF=0.8195;AF_popmax=0.8998;AF_male=0.8159;AF_female=0.8239;AF_raw=0.8190;AF_afr=0.8304;AF_sas=.;AF_amr=0.8998;AF_eas=0.7134;AF_nfe=0.8161;AF_fin=0.8342;AF_asj=0.8517;AF_oth=0.8122;non_topmed_AF_popmax=0.9025;non_neuro_AF_popmax=0.8809;non_cancer_AF_popmax=.;controls_AF_popmax=0.8577;Kaviar_AF=0.0032535;Kaviar_AC=503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 +18 3089677 rs55715846 A G 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=16692;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55715846;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0068;AF_male=0.0057;AF_female=0.0059;AF_raw=0.0058;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0164;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3090661 rs201965862 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18562;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon26:c.G3716A:p.G1239E,MYOM1:NM_003803:exon27:c.G4004A:p.G1335E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201965862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.087;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.71;MutationAssessor_score_rankscore=0.795;MutationAssessor_pred=M;FATHMM_score=0.88;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-6.0;PROVEAN_converted_rankscore=0.895;PROVEAN_pred=D;VEST3_score=0.949;VEST3_rankscore=0.945;MetaSVM_score=-0.636;MetaSVM_rankscore=0.634;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_rankscore=0.688;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.670;M-CAP_pred=D;REVEL_score=0.519;REVEL_rankscore=0.798;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.060;CADD_raw_rankscore=0.834;CADD_phred=28.1;DANN_score=0.997;DANN_rankscore=0.819;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.783;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.685;Eigen-PC-raw=0.659;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=6.177;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=19.833;SiPhy_29way_logOdds_rankscore=0.966;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503262;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3094131 rs116886106 A G 100 PASS AC=13;AF=0.01877;AN=214;NS=2504;DP=17391;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0179;SAS_AF=0.0654;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.01877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116886106;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0236;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0201;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.0744;AF=0.0116;AF_popmax=0.0181;AF_male=0.0116;AF_female=0.0116;AF_raw=0.0116;AF_afr=0.0041;AF_sas=.;AF_amr=0.0095;AF_eas=0.0006;AF_nfe=0.0181;AF_fin=0.0049;AF_asj=0.0310;AF_oth=0.0138;non_topmed_AF_popmax=0.0177;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0216039;Kaviar_AC=3340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +18 3100051 rs6506059 T C 100 PASS AC=205;AF=0.913339;AN=214;NS=2504;DP=20191;EAS_AF=0.9683;AMR_AF=0.9496;AFR_AF=0.8343;EUR_AF=0.9384;SAS_AF=0.9121;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.913339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6506059;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9013;AF_popmax=0.9692;AF_male=0.9012;AF_female=0.9015;AF_raw=0.9012;AF_afr=0.8364;AF_sas=.;AF_amr=0.9586;AF_eas=0.9692;AF_nfe=0.9178;AF_fin=0.9335;AF_asj=0.9759;AF_oth=0.9228;non_topmed_AF_popmax=0.9704;non_neuro_AF_popmax=0.9692;non_cancer_AF_popmax=.;controls_AF_popmax=0.9737;Kaviar_AF=0.0335024;Kaviar_AC=872;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +18 3100429 rs7232329 G A 100 PASS AC=109;AF=0.348043;AN=214;NS=2504;DP=20400;EAS_AF=0.3562;AMR_AF=0.5331;AFR_AF=0.1407;EUR_AF=0.4692;SAS_AF=0.364;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348043;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7232329;CLNALLELEID=230821;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.4470;ExAC_nontcga_ALL=0.4424;ExAC_nontcga_AFR=0.2047;ExAC_nontcga_AMR=0.6178;ExAC_nontcga_EAS=0.3833;ExAC_nontcga_FIN=0.3915;ExAC_nontcga_NFE=0.4727;ExAC_nontcga_OTH=0.4779;ExAC_nontcga_SAS=0.3913;AF=0.3547;AF_popmax=0.5721;AF_male=0.3547;AF_female=0.3546;AF_raw=0.3544;AF_afr=0.1815;AF_sas=.;AF_amr=0.5721;AF_eas=0.3488;AF_nfe=0.4369;AF_fin=0.3500;AF_asj=0.5069;AF_oth=0.3895;non_topmed_AF_popmax=0.5718;non_neuro_AF_popmax=0.5380;non_cancer_AF_popmax=.;controls_AF_popmax=0.5325;Kaviar_AF=0.407026;Kaviar_AC=62927;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1519899|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|1 0|1 0|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 +18 3102499 rs147050513 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19575;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon22:c.G3260A:p.R1087Q,MYOM1:NM_003803:exon23:c.G3548A:p.R1183Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147050513;CLNALLELEID=230822;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_score_rankscore=0.853;MutationAssessor_pred=M;FATHMM_score=-1.41;FATHMM_converted_rankscore=0.806;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.671;PROVEAN_pred=D;VEST3_score=0.788;VEST3_rankscore=0.779;MetaSVM_score=0.517;MetaSVM_rankscore=0.908;MetaSVM_pred=D;MetaLR_score=0.711;MetaLR_rankscore=0.901;MetaLR_pred=D;M-CAP_score=0.155;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.517;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.258;CADD_raw_rankscore=0.864;CADD_phred=28.9;DANN_score=0.999;DANN_rankscore=0.930;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.838;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.607;Eigen-PC-raw=0.482;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.799;phastCons20way_mammalian_rankscore=0.336;SiPhy_29way_logOdds=19.3;SiPhy_29way_logOdds_rankscore=0.941;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0003;AF_female=7.186e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3102674 rs150189542 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22131;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150189542;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.762e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.446e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.367e-05;AF_popmax=0.0001;AF_male=5.72e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3112230 rs547850629 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21373;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547850629;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3112231 rs8096379 G C 100 PASS AC=135;AF=0.596046;AN=214;NS=2504;DP=21362;EAS_AF=0.7738;AMR_AF=0.6686;AFR_AF=0.4516;EUR_AF=0.5994;SAS_AF=0.5532;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.596046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8096379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5538;AF_popmax=0.7968;AF_male=0.5592;AF_female=0.5470;AF_raw=0.5537;AF_afr=0.4680;AF_sas=.;AF_amr=0.7288;AF_eas=0.7968;AF_nfe=0.5835;AF_fin=0.4790;AF_asj=0.6138;AF_oth=0.5572;non_topmed_AF_popmax=0.7970;non_neuro_AF_popmax=0.7968;non_cancer_AF_popmax=.;controls_AF_popmax=0.7817;Kaviar_AF=0.117793;Kaviar_AC=18211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 +18 3112252 rs55779127 C A 100 PASS AC=39;AF=0.0810703;AN=214;NS=2504;DP=20503;EAS_AF=0;AMR_AF=0.1052;AFR_AF=0.0204;EUR_AF=0.2018;SAS_AF=0.1053;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55779127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1805;ExAC_nontcga_ALL=0.1385;ExAC_nontcga_AFR=0.0449;ExAC_nontcga_AMR=0.0734;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.2051;ExAC_nontcga_NFE=0.1865;ExAC_nontcga_OTH=0.1641;ExAC_nontcga_SAS=0.1071;AF=0.1352;AF_popmax=0.1792;AF_male=0.1297;AF_female=0.1422;AF_raw=0.1354;AF_afr=0.0467;AF_sas=.;AF_amr=0.0849;AF_eas=0.0006;AF_nfe=0.1792;AF_fin=0.2114;AF_asj=0.1897;AF_oth=0.1952;non_topmed_AF_popmax=0.1819;non_neuro_AF_popmax=0.1789;non_cancer_AF_popmax=.;controls_AF_popmax=0.1840;Kaviar_AF=0.135807;Kaviar_AC=20996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3120060 rs6506068 G A 100 PASS AC=178;AF=0.852436;AN=214;NS=2504;DP=18509;EAS_AF=0.9762;AMR_AF=0.8847;AFR_AF=0.7716;EUR_AF=0.8052;SAS_AF=0.8599;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.852436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6506068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8027;AF_popmax=0.9826;AF_male=0.8052;AF_female=0.7995;AF_raw=0.7997;AF_afr=0.7721;AF_sas=.;AF_amr=0.9087;AF_eas=0.9826;AF_nfe=0.7970;AF_fin=0.7955;AF_asj=0.8103;AF_oth=0.8023;non_topmed_AF_popmax=0.9829;non_neuro_AF_popmax=0.9826;non_cancer_AF_popmax=.;controls_AF_popmax=0.9836;Kaviar_AF=0.808552;Kaviar_AC=21045;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1684796|N/A|GATA3|PAZAR,OREG1628683|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 +18 3126632 rs7505167 C T 100 PASS AC=146;AF=0.813698;AN=214;NS=2504;DP=19354;EAS_AF=0.9494;AMR_AF=0.647;AFR_AF=0.8593;EUR_AF=0.6829;SAS_AF=0.865;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.813698;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7505167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7487;AF_popmax=0.9563;AF_male=0.7516;AF_female=0.7451;AF_raw=0.7483;AF_afr=0.8224;AF_sas=.;AF_amr=0.6194;AF_eas=0.9563;AF_nfe=0.6995;AF_fin=0.7370;AF_asj=0.6966;AF_oth=0.7094;non_topmed_AF_popmax=0.9559;non_neuro_AF_popmax=0.9563;non_cancer_AF_popmax=.;controls_AF_popmax=0.9531;Kaviar_AF=0.140567;Kaviar_AC=21732;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1107687|N/A|TP63|JASPAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|0 1|1 0|0 +18 3126811 rs1071600 A G 100 PASS AC=32;AF=0.254393;AN=214;NS=2504;DP=20132;EAS_AF=0.3204;AMR_AF=0.1988;AFR_AF=0.3177;EUR_AF=0.1571;SAS_AF=0.2403;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;1000g2015aug_all=0.254393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1071600;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.377;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.194;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=1.58;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.001;MetaSVM_score=-0.949;MetaSVM_rankscore=0.413;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.079;CADD_raw_rankscore=0.101;CADD_phred=3.381;DANN_score=0.599;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_rankscore=0.154;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.086;Eigen-PC-raw=-0.898;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.595;integrated_fitCons_score_rankscore=0.332;integrated_confidence_value=0;GERP++_RS=1.43;GERP++_RS_rankscore=0.215;phyloP100way_vertebrate=0.467;phyloP100way_vertebrate_rankscore=0.216;phyloP20way_mammalian=0.145;phyloP20way_mammalian_rankscore=0.233;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=7.397;SiPhy_29way_logOdds_rankscore=0.260;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1415;ExAC_nontcga_ALL=0.2037;ExAC_nontcga_AFR=0.2751;ExAC_nontcga_AMR=0.2451;ExAC_nontcga_EAS=0.3299;ExAC_nontcga_FIN=0.1835;ExAC_nontcga_NFE=0.1533;ExAC_nontcga_OTH=0.1973;ExAC_nontcga_SAS=0.2534;AF=0.1921;AF_popmax=0.3045;AF_male=0.1926;AF_female=0.1913;AF_raw=0.1919;AF_afr=0.2658;AF_sas=.;AF_amr=0.2288;AF_eas=0.3045;AF_nfe=0.1416;AF_fin=0.1848;AF_asj=0.1517;AF_oth=0.1627;non_topmed_AF_popmax=0.3042;non_neuro_AF_popmax=0.3045;non_cancer_AF_popmax=.;controls_AF_popmax=0.3238;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +18 3129535 rs182865142 C T 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=18238;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182865142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=8.063e-05;AF=0.0024;AF_popmax=0.0040;AF_male=0.0023;AF_female=0.0025;AF_raw=0.0024;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0030983;Kaviar_AC=479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000567718|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1278593|N/A|SMARCA4|PAZAR,OREG1246787|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.658426;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3134610 rs17177458 A G 100 PASS AC=34;AF=0.238019;AN=214;NS=2504;DP=15780;EAS_AF=0.3175;AMR_AF=0.1916;AFR_AF=0.2617;EUR_AF=0.1581;SAS_AF=0.2393;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.238019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17177458;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1403;ExAC_nontcga_ALL=0.2017;ExAC_nontcga_AFR=0.2273;ExAC_nontcga_AMR=0.2304;ExAC_nontcga_EAS=0.3145;ExAC_nontcga_FIN=0.1990;ExAC_nontcga_NFE=0.1591;ExAC_nontcga_OTH=0.1980;ExAC_nontcga_SAS=0.2608;AF=0.1836;AF_popmax=0.2895;AF_male=0.1849;AF_female=0.1820;AF_raw=0.1838;AF_afr=0.2213;AF_sas=.;AF_amr=0.2175;AF_eas=0.2895;AF_nfe=0.1491;AF_fin=0.1942;AF_asj=0.1483;AF_oth=0.1682;non_topmed_AF_popmax=0.2888;non_neuro_AF_popmax=0.2895;non_cancer_AF_popmax=.;controls_AF_popmax=0.3013;Kaviar_AF=0.180418;Kaviar_AC=27893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +18 3134826 rs143030509 A C 100 PASS AC=3;AF=0.00599042;AN=214;NS=2504;DP=18203;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143030509;CLNALLELEID=230846;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0018;AF=0.0120;AF_popmax=0.0152;AF_male=0.0118;AF_female=0.0124;AF_raw=0.0121;AF_afr=0.0021;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0152;AF_fin=0.0279;AF_asj=0.0138;AF_oth=0.0175;non_topmed_AF_popmax=0.0161;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0103362;Kaviar_AC=1598;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3135644 rs149528866 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18049;EAS_AF=0.002;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon15:c.G2110A:p.E704K,MYOM1:NM_019856:exon15:c.G2110A:p.E704K;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149528866;CLNALLELEID=230849;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.84;MutationAssessor_score_rankscore=0.212;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-2.34;PROVEAN_converted_rankscore=0.518;PROVEAN_pred=N;VEST3_score=0.89;VEST3_rankscore=0.902;MetaSVM_score=-0.786;MetaSVM_rankscore=0.560;MetaSVM_pred=T;MetaLR_score=0.209;MetaLR_rankscore=0.569;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.909;CADD_raw_rankscore=0.956;CADD_phred=35;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.895;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.721;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.529;phastCons20way_mammalian_rankscore=0.276;SiPhy_29way_logOdds=20.381;SiPhy_29way_logOdds_rankscore=0.989;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0039;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.0345;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0001;AF=0.0113;AF_popmax=0.0126;AF_male=0.0101;AF_female=0.0129;AF_raw=0.0114;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0032;AF_nfe=0.0126;AF_fin=0.0380;AF_asj=0.0138;AF_oth=0.0138;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0225;Kaviar_AF=0.0052457;Kaviar_AC=811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3142040 rs138431527 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18302;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon14:c.C1922T:p.P641L,MYOM1:NM_019856:exon14:c.C1922T:p.P641L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138431527;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.465;MutationAssessor_score_rankscore=0.989;MutationAssessor_pred=H;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-8.97;PROVEAN_converted_rankscore=0.983;PROVEAN_pred=D;VEST3_score=0.892;VEST3_rankscore=0.881;MetaSVM_score=0.849;MetaSVM_rankscore=0.950;MetaSVM_pred=D;MetaLR_score=0.810;MetaLR_rankscore=0.936;MetaLR_pred=D;M-CAP_score=0.255;M-CAP_rankscore=0.893;M-CAP_pred=D;REVEL_score=0.785;REVEL_rankscore=0.930;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.299;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.932;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.135;Eigen-PC-raw=1.055;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.944;phastCons20way_mammalian_rankscore=0.418;SiPhy_29way_logOdds=20.279;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.851e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.692e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.118e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.579271;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3164385 rs11659820 C T 100 PASS AC=54;AF=0.16873;AN=214;NS=2504;DP=17303;EAS_AF=0.0079;AMR_AF=0.1744;AFR_AF=0.2549;EUR_AF=0.2366;SAS_AF=0.1442;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon10:c.G1392A:p.R464R,MYOM1:NM_019856:exon10:c.G1392A:p.R464R;1000g2015aug_all=0.16873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11659820;CLNALLELEID=230876;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2072;ExAC_nontcga_ALL=0.2151;ExAC_nontcga_AFR=0.2890;ExAC_nontcga_AMR=0.1948;ExAC_nontcga_EAS=0.0078;ExAC_nontcga_FIN=0.1741;ExAC_nontcga_NFE=0.2444;ExAC_nontcga_OTH=0.1947;ExAC_nontcga_SAS=0.2007;AF=0.1957;AF_popmax=0.2695;AF_male=0.1948;AF_female=0.1967;AF_raw=0.1958;AF_afr=0.2695;AF_sas=.;AF_amr=0.1643;AF_eas=0.0006;AF_nfe=0.1897;AF_fin=0.1378;AF_asj=0.1690;AF_oth=0.1867;non_topmed_AF_popmax=0.2689;non_neuro_AF_popmax=0.2653;non_cancer_AF_popmax=.;controls_AF_popmax=0.2590;Kaviar_AF=0.182617;Kaviar_AC=28233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|0 +18 3168816 rs2230167 G A 100 PASS AC=45;AF=0.282149;AN=214;NS=2504;DP=18941;EAS_AF=0.2798;AMR_AF=0.2061;AFR_AF=0.3313;EUR_AF=0.2356;SAS_AF=0.32;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N;1000g2015aug_all=0.282149;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230167;CLNALLELEID=230878;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.042;esp6500siv2_ea=0.2648;ExAC_nontcga_ALL=0.2611;ExAC_nontcga_AFR=0.3256;ExAC_nontcga_AMR=0.1867;ExAC_nontcga_EAS=0.2721;ExAC_nontcga_FIN=0.2263;ExAC_nontcga_NFE=0.2619;ExAC_nontcga_OTH=0.2289;ExAC_nontcga_SAS=0.2858;AF=0.2819;AF_popmax=0.3199;AF_male=0.2801;AF_female=0.2841;AF_raw=0.2820;AF_afr=0.3199;AF_sas=.;AF_amr=0.2182;AF_eas=0.2764;AF_nfe=0.2756;AF_fin=0.2440;AF_asj=0.2897;AF_oth=0.2440;non_topmed_AF_popmax=0.3206;non_neuro_AF_popmax=0.3123;non_cancer_AF_popmax=.;controls_AF_popmax=0.3131;Kaviar_AF=0.258082;Kaviar_AC=39900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3173873 rs10153407 G A 100 PASS AC=60;AF=0.315895;AN=214;NS=2504;DP=17358;EAS_AF=0.2669;AMR_AF=0.2248;AFR_AF=0.4002;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3391;AF_popmax=0.4146;AF_male=0.3373;AF_female=0.3413;AF_raw=0.3390;AF_afr=0.4146;AF_sas=.;AF_amr=0.2506;AF_eas=0.2416;AF_nfe=0.3229;AF_fin=0.3003;AF_asj=0.3448;AF_oth=0.2943;non_topmed_AF_popmax=0.4147;non_neuro_AF_popmax=0.4215;non_cancer_AF_popmax=.;controls_AF_popmax=0.4220;Kaviar_AF=0.0601674;Kaviar_AC=9302;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3173964 rs2230163 G A 100 PASS AC=60;AF=0.316094;AN=214;NS=2504;DP=16674;EAS_AF=0.2669;AMR_AF=0.2262;AFR_AF=0.4002;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H;1000g2015aug_all=0.316094;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230163;CLNALLELEID=230880;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3157;ExAC_nontcga_ALL=0.2995;ExAC_nontcga_AFR=0.4012;ExAC_nontcga_AMR=0.2008;ExAC_nontcga_EAS=0.2459;ExAC_nontcga_FIN=0.2929;ExAC_nontcga_NFE=0.3110;ExAC_nontcga_OTH=0.2551;ExAC_nontcga_SAS=0.3064;AF=0.3394;AF_popmax=0.4153;AF_male=0.3377;AF_female=0.3414;AF_raw=0.3391;AF_afr=0.4153;AF_sas=.;AF_amr=0.25;AF_eas=0.2410;AF_nfe=0.3235;AF_fin=0.2993;AF_asj=0.3448;AF_oth=0.2947;non_topmed_AF_popmax=0.4154;non_neuro_AF_popmax=0.4214;non_cancer_AF_popmax=.;controls_AF_popmax=0.4208;Kaviar_AF=0.29834;Kaviar_AC=46124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3174018 rs17183883 C T 100 PASS AC=40;AF=0.192292;AN=214;NS=2504;DP=17593;EAS_AF=0.2589;AMR_AF=0.147;AFR_AF=0.1097;EUR_AF=0.2177;SAS_AF=0.2413;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17183883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2582;ExAC_nontcga_ALL=0.2209;ExAC_nontcga_AFR=0.1183;ExAC_nontcga_AMR=0.1586;ExAC_nontcga_EAS=0.2390;ExAC_nontcga_FIN=0.2136;ExAC_nontcga_NFE=0.2474;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2252;AF=0.2179;AF_popmax=0.2670;AF_male=0.2145;AF_female=0.2221;AF_raw=0.2183;AF_afr=0.1263;AF_sas=.;AF_amr=0.1730;AF_eas=0.2301;AF_nfe=0.2670;AF_fin=0.2308;AF_asj=0.2674;AF_oth=0.2173;non_topmed_AF_popmax=0.2717;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2827;Kaviar_AF=0.221084;Kaviar_AC=34180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174056 rs10153428 C A 100 PASS AC=60;AF=0.315695;AN=214;NS=2504;DP=18787;EAS_AF=0.2669;AMR_AF=0.2248;AFR_AF=0.3994;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3384;AF_popmax=0.4142;AF_male=0.3373;AF_female=0.3397;AF_raw=0.3387;AF_afr=0.4142;AF_sas=.;AF_amr=0.25;AF_eas=0.24;AF_nfe=0.3220;AF_fin=0.3001;AF_asj=0.3448;AF_oth=0.2939;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4208;non_cancer_AF_popmax=.;controls_AF_popmax=0.4206;Kaviar_AF=0.0595529;Kaviar_AC=9207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3384;AF_popmax=0.4142;AF_male=0.3373;AF_female=0.3397;AF_raw=0.3387;AF_afr=0.4142;AF_sas=.;AF_amr=0.25;AF_eas=0.24;AF_nfe=0.3220;AF_fin=0.3001;AF_asj=0.3448;AF_oth=0.2939;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4208;non_cancer_AF_popmax=.;controls_AF_popmax=0.4206;Kaviar_AF=0.0595529;Kaviar_AC=9207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3174064 rs72860297 G T 100 PASS AC=40;AF=0.191893;AN=214;NS=2504;DP=19089;EAS_AF=0.2589;AMR_AF=0.147;AFR_AF=0.1082;EUR_AF=0.2177;SAS_AF=0.2413;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72860297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2652;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2216;AF_popmax=0.2671;AF_male=0.2183;AF_female=0.2257;AF_raw=0.2176;AF_afr=0.1334;AF_sas=.;AF_amr=0.1754;AF_eas=0.2300;AF_nfe=0.2671;AF_fin=0.2319;AF_asj=0.2674;AF_oth=0.2180;non_topmed_AF_popmax=0.2719;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2841;Kaviar_AF=0.0391198;Kaviar_AC=6048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72860297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2652;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2216;AF_popmax=0.2671;AF_male=0.2183;AF_female=0.2257;AF_raw=0.2176;AF_afr=0.1334;AF_sas=.;AF_amr=0.1754;AF_eas=0.2300;AF_nfe=0.2671;AF_fin=0.2319;AF_asj=0.2674;AF_oth=0.2180;non_topmed_AF_popmax=0.2719;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2841;Kaviar_AF=0.0391198;Kaviar_AC=6048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174076 rs35188311 A AAC 100 PASS AC=40;AF=0.233427;AN=214;NS=2504;DP=21870;EAS_AF=0.2599;AMR_AF=0.1556;AFR_AF=0.2625;EUR_AF=0.2177;SAS_AF=0.2382;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35188311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2591;ExAC_nontcga_ALL=0.2335;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.1639;ExAC_nontcga_EAS=0.2375;ExAC_nontcga_FIN=0.2144;ExAC_nontcga_NFE=0.2491;ExAC_nontcga_OTH=0.1789;ExAC_nontcga_SAS=0.2256;AF=0.2591;AF_popmax=0.2686;AF_male=0.2582;AF_female=0.2603;AF_raw=0.2577;AF_afr=0.2686;AF_sas=.;AF_amr=0.1912;AF_eas=0.2296;AF_nfe=0.2683;AF_fin=0.2319;AF_asj=0.2746;AF_oth=0.2332;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2775;non_cancer_AF_popmax=.;controls_AF_popmax=0.2832;Kaviar_AF=0.0141913;Kaviar_AC=2194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35188311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2591;ExAC_nontcga_ALL=0.2335;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.1639;ExAC_nontcga_EAS=0.2375;ExAC_nontcga_FIN=0.2144;ExAC_nontcga_NFE=0.2491;ExAC_nontcga_OTH=0.1789;ExAC_nontcga_SAS=0.2256;AF=0.2591;AF_popmax=0.2686;AF_male=0.2582;AF_female=0.2603;AF_raw=0.2577;AF_afr=0.2686;AF_sas=.;AF_amr=0.1912;AF_eas=0.2296;AF_nfe=0.2683;AF_fin=0.2319;AF_asj=0.2746;AF_oth=0.2332;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2775;non_cancer_AF_popmax=.;controls_AF_popmax=0.2832;Kaviar_AF=0.0141913;Kaviar_AC=2194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174084 rs150558788 C CAT 100 PASS AC=20;AF=0.0810703;AN=214;NS=2504;DP=20163;EAS_AF=0.0079;AMR_AF=0.0692;AFR_AF=0.1346;EUR_AF=0.0885;SAS_AF=0.0849;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150558788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0071;ExAC_nontcga_FIN=0.0798;ExAC_nontcga_NFE=0.0617;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.0794;AF=0.0821;AF_popmax=0.1539;AF_male=0.0816;AF_female=0.0828;AF_raw=0.0823;AF_afr=0.1539;AF_sas=.;AF_amr=0.0603;AF_eas=0.0116;AF_nfe=0.0548;AF_fin=0.0683;AF_asj=0.0690;AF_oth=0.0618;non_topmed_AF_popmax=0.1543;non_neuro_AF_popmax=0.1517;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150558788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0071;ExAC_nontcga_FIN=0.0798;ExAC_nontcga_NFE=0.0617;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.0794;AF=0.0821;AF_popmax=0.1539;AF_male=0.0816;AF_female=0.0828;AF_raw=0.0823;AF_afr=0.1539;AF_sas=.;AF_amr=0.0603;AF_eas=0.0116;AF_nfe=0.0548;AF_fin=0.0683;AF_asj=0.0690;AF_oth=0.0618;non_topmed_AF_popmax=0.1543;non_neuro_AF_popmax=0.1517;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3174238 rs78567624 G A 100 PASS AC=7;AF=0.00958466;AN=214;NS=2504;DP=20328;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0308;SAS_AF=0.0123;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78567624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0269;ExAC_nontcga_ALL=0.0219;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0376;ExAC_nontcga_NFE=0.0321;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0108;AF=0.0188;AF_popmax=0.0248;AF_male=0.0183;AF_female=0.0195;AF_raw=0.0189;AF_afr=0.0044;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0248;AF_fin=0.0380;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.0249;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0216;Kaviar_AF=0.0211834;Kaviar_AC=3275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +18 3176017 rs17177479 C T 100 PASS AC=39;AF=0.191693;AN=214;NS=2504;DP=19845;EAS_AF=0.2579;AMR_AF=0.147;AFR_AF=0.1089;EUR_AF=0.2177;SAS_AF=0.2403;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17177479;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2556;ExAC_nontcga_ALL=0.2256;ExAC_nontcga_AFR=0.1220;ExAC_nontcga_AMR=0.1691;ExAC_nontcga_EAS=0.2425;ExAC_nontcga_FIN=0.2201;ExAC_nontcga_NFE=0.2505;ExAC_nontcga_OTH=0.1710;ExAC_nontcga_SAS=0.2296;AF=0.2177;AF_popmax=0.2668;AF_male=0.2139;AF_female=0.2224;AF_raw=0.2180;AF_afr=0.1254;AF_sas=.;AF_amr=0.1733;AF_eas=0.2314;AF_nfe=0.2668;AF_fin=0.2322;AF_asj=0.2655;AF_oth=0.2164;non_topmed_AF_popmax=0.2718;non_neuro_AF_popmax=0.2661;non_cancer_AF_popmax=.;controls_AF_popmax=0.2836;Kaviar_AF=0.212591;Kaviar_AC=32867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3176040 rs8099021 C G 100 PASS AC=138;AF=0.757188;AN=214;NS=2504;DP=21009;EAS_AF=0.7421;AMR_AF=0.7579;AFR_AF=0.7829;EUR_AF=0.7097;SAS_AF=0.7863;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;1000g2015aug_all=0.757188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8099021;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_converted_rankscore=0.083;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.62;MutationAssessor_score_rankscore=0.158;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=0.65;PROVEAN_converted_rankscore=0.023;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.916;MetaSVM_rankscore=0.462;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.156;REVEL_rankscore=0.412;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.049;CADD_raw_rankscore=0.030;CADD_phred=0.013;DANN_score=0.223;DANN_rankscore=0.009;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.891;Eigen-PC-raw=-0.788;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.601;integrated_fitCons_score_rankscore=0.348;integrated_confidence_value=0;GERP++_RS=1.97;GERP++_RS_rankscore=0.252;phyloP100way_vertebrate=0.168;phyloP100way_vertebrate_rankscore=0.163;phyloP20way_mammalian=-0.313;phyloP20way_mammalian_rankscore=0.078;phastCons100way_vertebrate=0.682;phastCons100way_vertebrate_rankscore=0.282;phastCons20way_mammalian=0.306;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=14.746;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9992;dbscSNV_RF_SCORE=0.75;esp6500siv2_ea=0.7156;ExAC_nontcga_ALL=0.7411;ExAC_nontcga_AFR=0.7998;ExAC_nontcga_AMR=0.7799;ExAC_nontcga_EAS=0.7499;ExAC_nontcga_FIN=0.7606;ExAC_nontcga_NFE=0.7034;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7962;AF=0.7582;AF_popmax=0.8092;AF_male=0.7566;AF_female=0.7601;AF_raw=0.7579;AF_afr=0.8092;AF_sas=.;AF_amr=0.7358;AF_eas=0.7342;AF_nfe=0.7317;AF_fin=0.7776;AF_asj=0.7069;AF_oth=0.7274;non_topmed_AF_popmax=0.8096;non_neuro_AF_popmax=0.8156;non_cancer_AF_popmax=.;controls_AF_popmax=0.8157;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 1|1 1|1 0|0 0|0 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|1 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|1 1|1 1|0 +18 3176063 rs2230162 C T 100 PASS AC=59;AF=0.273163;AN=214;NS=2504;DP=22191;EAS_AF=0.2659;AMR_AF=0.2161;AFR_AF=0.2436;EUR_AF=0.3062;SAS_AF=0.3272;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G;1000g2015aug_all=0.273163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230162;CLNALLELEID=230884;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3116;ExAC_nontcga_ALL=0.2845;ExAC_nontcga_AFR=0.2659;ExAC_nontcga_AMR=0.1936;ExAC_nontcga_EAS=0.2423;ExAC_nontcga_FIN=0.2904;ExAC_nontcga_NFE=0.3062;ExAC_nontcga_OTH=0.2485;ExAC_nontcga_SAS=0.3037;AF=0.3001;AF_popmax=0.3222;AF_male=0.2959;AF_female=0.3053;AF_raw=0.3003;AF_afr=0.2791;AF_sas=.;AF_amr=0.2335;AF_eas=0.2429;AF_nfe=0.3222;AF_fin=0.3003;AF_asj=0.3345;AF_oth=0.2791;non_topmed_AF_popmax=0.3242;non_neuro_AF_popmax=0.3221;non_cancer_AF_popmax=.;controls_AF_popmax=0.3267;Kaviar_AF=0.282008;Kaviar_AC=43599;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.189371;ALLELE_END GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3176190 rs202240743 A AACACACACAT 100 PASS AC=20;AF=0.0808706;AN=214;NS=2504;DP=23160;EAS_AF=0.0079;AMR_AF=0.0692;AFR_AF=0.1339;EUR_AF=0.0885;SAS_AF=0.0849;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0808706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0155602;Kaviar_AC=405;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3188715 rs73375192 T C 100 PASS AC=16;AF=0.0898562;AN=214;NS=2504;DP=19638;EAS_AF=0.002;AMR_AF=0.072;AFR_AF=0.205;EUR_AF=0.0696;SAS_AF=0.0583;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73375192;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0573;ExAC_nontcga_ALL=0.1075;ExAC_nontcga_AFR=0.2565;ExAC_nontcga_AMR=0.0811;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0446;ExAC_nontcga_NFE=0.0944;ExAC_nontcga_OTH=0.0988;ExAC_nontcga_SAS=0.1161;AF=0.0818;AF_popmax=0.1868;AF_male=0.0842;AF_female=0.0787;AF_raw=0.0820;AF_afr=0.1868;AF_sas=.;AF_amr=0.0604;AF_eas=0;AF_nfe=0.0465;AF_fin=0.0291;AF_asj=0.0764;AF_oth=0.0470;non_topmed_AF_popmax=0.1865;non_neuro_AF_popmax=0.1882;non_cancer_AF_popmax=.;controls_AF_popmax=0.1872;Kaviar_AF=0.0493655;Kaviar_AC=7632;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188778 rs139422575 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18216;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.G739A:p.E247K,MYOM1:NM_019856:exon4:c.G739A:p.E247K;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139422575;CLNALLELEID=230886;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.939;Polyphen2_HDIV_rankscore=0.550;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.523;Polyphen2_HVAR_rankscore=0.529;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.411;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.499;MutationTaster_pred=D;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=0.87;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.81;VEST3_rankscore=0.799;MetaSVM_score=-1.028;MetaSVM_rankscore=0.212;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_rankscore=0.417;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.249;REVEL_rankscore=0.562;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.491;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.994;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.705;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.371;Eigen-PC-raw=0.460;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=3.350;phyloP100way_vertebrate_rankscore=0.517;phyloP20way_mammalian=0.914;phyloP20way_mammalian_rankscore=0.427;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.735;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0106;ExAC_nontcga_SAS=0.0018;AF=0.0035;AF_popmax=0.0083;AF_male=0.0036;AF_female=0.0034;AF_raw=0.0035;AF_afr=0.0008;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0049;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0040103;Kaviar_AC=620;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188857 rs2230166 A G 100 PASS AC=16;AF=0.0894569;AN=214;NS=2504;DP=15540;EAS_AF=0.001;AMR_AF=0.072;AFR_AF=0.2042;EUR_AF=0.0696;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T660C:p.S220S,MYOM1:NM_019856:exon4:c.T660C:p.S220S;1000g2015aug_all=0.0894569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230166;CLNALLELEID=230887;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0589;ExAC_nontcga_ALL=0.0609;ExAC_nontcga_AFR=0.1923;ExAC_nontcga_AMR=0.0346;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0310;ExAC_nontcga_NFE=0.0574;ExAC_nontcga_OTH=0.0466;ExAC_nontcga_SAS=0.0642;AF=0.0815;AF_popmax=0.1858;AF_male=0.0838;AF_female=0.0788;AF_raw=0.0818;AF_afr=0.1858;AF_sas=.;AF_amr=0.0601;AF_eas=0;AF_nfe=0.0466;AF_fin=0.0291;AF_asj=0.0793;AF_oth=0.0478;non_topmed_AF_popmax=0.1856;non_neuro_AF_popmax=0.1869;non_cancer_AF_popmax=.;controls_AF_popmax=0.1864;Kaviar_AF=0.0124901;Kaviar_AC=1931;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188873 rs2230165 G A 100 PASS AC=16;AF=0.0716853;AN=214;NS=2504;DP=15353;EAS_AF=0.002;AMR_AF=0.0504;AFR_AF=0.149;EUR_AF=0.0676;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C644T:p.T215M,MYOM1:NM_019856:exon4:c.C644T:p.T215M;1000g2015aug_all=0.0716853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230165;CLNALLELEID=230888;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.133;SIFT_converted_rankscore=0.282;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_rankscore=0.475;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.436;Polyphen2_HVAR_pred=B;LRT_score=0.654;LRT_converted_rankscore=0.059;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=0.1;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.095;MetaSVM_score=-1.107;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.500;CADD_raw_rankscore=0.142;CADD_phred=7.431;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.085;Eigen-PC-raw=-1.240;GenoCanyon_score=0.933;GenoCanyon_score_rankscore=0.271;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=-0.099;phyloP100way_vertebrate_rankscore=0.109;phyloP20way_mammalian=0.421;phyloP20way_mammalian_rankscore=0.276;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0586;ExAC_nontcga_ALL=0.0558;ExAC_nontcga_AFR=0.1404;ExAC_nontcga_AMR=0.0285;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0312;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0639;AF=0.0666;AF_popmax=0.1338;AF_male=0.0686;AF_female=0.0642;AF_raw=0.0669;AF_afr=0.1338;AF_sas=.;AF_amr=0.0521;AF_eas=0;AF_nfe=0.0463;AF_fin=0.0291;AF_asj=0.0793;AF_oth=0.0443;non_topmed_AF_popmax=0.1335;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1339;Kaviar_AF=0.055562;Kaviar_AC=8590;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188927 rs142735495 G A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=15415;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C590T:p.T197M,MYOM1:NM_019856:exon4:c.C590T:p.T197M;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142735495;CLNALLELEID=230889;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.251;SIFT_converted_rankscore=0.221;SIFT_pred=T;Polyphen2_HDIV_score=0.726;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.202;Polyphen2_HVAR_rankscore=0.353;Polyphen2_HVAR_pred=B;LRT_score=0.216;LRT_converted_rankscore=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.89;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.089;MetaSVM_score=-1.084;MetaSVM_rankscore=0.065;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_rankscore=0.183;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.419;CADD_raw_rankscore=0.060;CADD_phred=0.348;DANN_score=0.674;DANN_rankscore=0.081;fathmm-MKL_coding_score=0.008;fathmm-MKL_coding_rankscore=0.033;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.699;Eigen-PC-raw=-1.803;GenoCanyon_score=0.972;GenoCanyon_score_rankscore=0.293;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.56;GERP++_RS_rankscore=0.080;phyloP100way_vertebrate=-1.165;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=-2.873;phyloP20way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.442;SiPhy_29way_logOdds_rankscore=0.109;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0131;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0021669;Kaviar_AC=335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188976 rs1962519 A G 100 PASS AC=67;AF=0.443291;AN=214;NS=2504;DP=17012;EAS_AF=0.8363;AMR_AF=0.402;AFR_AF=0.1641;EUR_AF=0.4026;SAS_AF=0.4867;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1962519;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.088;SIFT_converted_rankscore=0.323;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_rankscore=0.568;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_rankscore=0.530;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_score_rankscore=0.463;MutationAssessor_pred=L;FATHMM_score=0.73;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.167;VEST3_rankscore=0.204;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.095;CADD_raw_rankscore=0.313;CADD_phred=16.82;DANN_score=0.988;DANN_rankscore=0.456;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_rankscore=0.151;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.454;Eigen-PC-raw=-0.503;GenoCanyon_score=0.942;GenoCanyon_score_rankscore=0.275;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=0.196;phyloP100way_vertebrate_rankscore=0.169;phyloP20way_mammalian=1.171;phyloP20way_mammalian_rankscore=0.901;phastCons100way_vertebrate=0.440;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.092;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=7.638;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4153;ExAC_nontcga_ALL=0.4401;ExAC_nontcga_AFR=0.1931;ExAC_nontcga_AMR=0.3998;ExAC_nontcga_EAS=0.8176;ExAC_nontcga_FIN=0.4921;ExAC_nontcga_NFE=0.4159;ExAC_nontcga_OTH=0.4333;ExAC_nontcga_SAS=0.4743;AF=0.4027;AF_popmax=0.8216;AF_male=0.4022;AF_female=0.4033;AF_raw=0.4029;AF_afr=0.2078;AF_sas=.;AF_amr=0.3884;AF_eas=0.8216;AF_nfe=0.4435;AF_fin=0.5135;AF_asj=0.4371;AF_oth=0.4341;non_topmed_AF_popmax=0.8231;non_neuro_AF_popmax=0.8216;non_cancer_AF_popmax=.;controls_AF_popmax=0.8263;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 +18 3214918 rs7232679 G C 100 PASS AC=34;AF=0.286142;AN=214;NS=2504;DP=16037;EAS_AF=0.2252;AMR_AF=0.2478;AFR_AF=0.388;EUR_AF=0.2416;SAS_AF=0.2843;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.286142;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7232679;CLNALLELEID=230896;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2615;ExAC_nontcga_ALL=0.2852;ExAC_nontcga_AFR=0.3797;ExAC_nontcga_AMR=0.2093;ExAC_nontcga_EAS=0.2088;ExAC_nontcga_FIN=0.2986;ExAC_nontcga_NFE=0.2858;ExAC_nontcga_OTH=0.2821;ExAC_nontcga_SAS=0.3390;AF=0.3140;AF_popmax=0.3875;AF_male=0.3120;AF_female=0.3164;AF_raw=0.3143;AF_afr=0.3875;AF_sas=.;AF_amr=0.2239;AF_eas=0.2118;AF_nfe=0.2878;AF_fin=0.3222;AF_asj=0.2708;AF_oth=0.2987;non_topmed_AF_popmax=0.3880;non_neuro_AF_popmax=0.3735;non_cancer_AF_popmax=.;controls_AF_popmax=0.3780;Kaviar_AF=0.264169;Kaviar_AC=40841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +18 3215004 rs545000193 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15311;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.C218T:p.A73V,MYOM1:NM_019856:exon2:c.C218T:p.A73V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545000193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.493;Polyphen2_HDIV_rankscore=0.351;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_rankscore=0.267;Polyphen2_HVAR_pred=B;LRT_score=0.364;LRT_converted_rankscore=0.136;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=0.86;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.195;PROVEAN_pred=N;VEST3_score=0.337;VEST3_rankscore=0.398;MetaSVM_score=-1.085;MetaSVM_rankscore=0.063;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.270;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.163;M-CAP_pred=T;REVEL_score=0.027;REVEL_rankscore=0.062;MutPred_score=0.186;MutPred_rankscore=0.095;CADD_raw=1.311;CADD_raw_rankscore=0.222;CADD_phred=12.33;DANN_score=0.993;DANN_rankscore=0.582;fathmm-MKL_coding_score=0.613;fathmm-MKL_coding_rankscore=0.312;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.573;Eigen-PC-raw=-0.519;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.79;GERP++_RS_rankscore=0.426;phyloP100way_vertebrate=0.216;phyloP100way_vertebrate_rankscore=0.172;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.190;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=12.050;SiPhy_29way_logOdds_rankscore=0.526;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215030 rs9964300 C A 100 PASS AC=9;AF=0.0730831;AN=214;NS=2504;DP=14216;EAS_AF=0.0119;AMR_AF=0.0994;AFR_AF=0.1505;EUR_AF=0.0547;SAS_AF=0.0317;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G192T:p.A64A,MYOM1:NM_019856:exon2:c.G192T:p.A64A;1000g2015aug_all=0.0730831;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9964300;CLNALLELEID=230898;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0565;ExAC_nontcga_ALL=0.0649;ExAC_nontcga_AFR=0.1294;ExAC_nontcga_AMR=0.0819;ExAC_nontcga_EAS=0.0074;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0653;ExAC_nontcga_OTH=0.0716;ExAC_nontcga_SAS=0.0490;AF=0.0827;AF_popmax=0.1363;AF_male=0.0835;AF_female=0.0816;AF_raw=0.0829;AF_afr=0.1363;AF_sas=.;AF_amr=0.0768;AF_eas=0.0019;AF_nfe=0.0661;AF_fin=0.0678;AF_asj=0.0276;AF_oth=0.0710;non_topmed_AF_popmax=0.1363;non_neuro_AF_popmax=0.1263;non_cancer_AF_popmax=.;controls_AF_popmax=0.1263;Kaviar_AF=0.063311;Kaviar_AC=9788;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215083 rs202145133 T C 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=13177;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.A139G:p.S47G,MYOM1:NM_019856:exon2:c.A139G:p.S47G;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202145133;CLNALLELEID=230899;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_rankscore=0.305;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_rankscore=0.272;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=0.508;MutationTaster_converted_rankscore=0.318;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.455;VEST3_rankscore=0.507;MetaSVM_score=-0.874;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.284;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.576;CADD_raw_rankscore=0.371;CADD_phred=19.95;DANN_score=0.987;DANN_rankscore=0.441;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.018;Eigen-PC-raw=0.153;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=1.136;phyloP100way_vertebrate_rankscore=0.309;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.450;SiPhy_29way_logOdds_rankscore=0.605;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0354;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0;AF=0.0116;AF_popmax=0.0125;AF_male=0.0101;AF_female=0.0135;AF_raw=0.0116;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0125;AF_fin=0.0412;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0123;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0045924;Kaviar_AC=710;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.661735;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215131 rs76382984 G T 100 PASS AC=2;AF=0.013778;AN=214;NS=2504;DP=15479;EAS_AF=0.0337;AMR_AF=0.0231;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.C91A:p.R31R,MYOM1:NM_019856:exon2:c.C91A:p.R31R;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76382984;CLNALLELEID=230902;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0175;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0.0424;ExAC_nontcga_FIN=0.0395;ExAC_nontcga_NFE=0.0174;ExAC_nontcga_OTH=0.0229;ExAC_nontcga_SAS=0.0071;AF=0.0168;AF_popmax=0.0410;AF_male=0.0163;AF_female=0.0175;AF_raw=0.0168;AF_afr=0.0017;AF_sas=.;AF_amr=0.0189;AF_eas=0.0410;AF_nfe=0.0169;AF_fin=0.0391;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0371;Kaviar_AF=0.0162676;Kaviar_AC=2515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.172521;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215156 rs1662316 C G 100 PASS AC=11;AF=0.128994;AN=214;NS=2504;DP=16440;EAS_AF=0.1865;AMR_AF=0.0879;AFR_AF=0.1346;EUR_AF=0.0934;SAS_AF=0.1278;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G66C:p.V22V,MYOM1:NM_019856:exon2:c.G66C:p.V22V;1000g2015aug_all=0.128994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1662316;CLNALLELEID=230903;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0858;ExAC_nontcga_ALL=0.1069;ExAC_nontcga_AFR=0.1313;ExAC_nontcga_AMR=0.0757;ExAC_nontcga_EAS=0.1695;ExAC_nontcga_FIN=0.1004;ExAC_nontcga_NFE=0.0988;ExAC_nontcga_OTH=0.1092;ExAC_nontcga_SAS=0.1153;AF=0.1076;AF_popmax=0.18;AF_male=0.1078;AF_female=0.1073;AF_raw=0.1079;AF_afr=0.1265;AF_sas=.;AF_amr=0.0637;AF_eas=0.18;AF_nfe=0.0948;AF_fin=0.0944;AF_asj=0.1;AF_oth=0.1128;non_topmed_AF_popmax=0.1792;non_neuro_AF_popmax=0.18;non_cancer_AF_popmax=.;controls_AF_popmax=0.1784;Kaviar_AF=0.0951669;Kaviar_AC=14713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215158 rs1791085 C G 100 PASS AC=11;AF=0.127995;AN=214;NS=2504;DP=16535;EAS_AF=0.1845;AMR_AF=0.0879;AFR_AF=0.1339;EUR_AF=0.0915;SAS_AF=0.1278;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G64C:p.V22L,MYOM1:NM_019856:exon2:c.G64C:p.V22L;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1791085;CLNALLELEID=230905;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.308;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=-1.745;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.372;FATHMM_pred=T;PROVEAN_score=0.42;PROVEAN_converted_rankscore=0.034;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.047;MetaSVM_score=-1.046;MetaSVM_rankscore=0.156;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.149;CADD_raw_rankscore=0.205;CADD_phred=11.48;DANN_score=0.637;DANN_rankscore=0.071;fathmm-MKL_coding_score=0.119;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.728;Eigen-PC-raw=-0.459;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=3.117;phyloP100way_vertebrate_rankscore=0.499;phyloP20way_mammalian=0.073;phyloP20way_mammalian_rankscore=0.181;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=9.338;SiPhy_29way_logOdds_rankscore=0.370;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.1073;ExAC_nontcga_AFR=0.1318;ExAC_nontcga_AMR=0.0758;ExAC_nontcga_EAS=0.1698;ExAC_nontcga_FIN=0.1010;ExAC_nontcga_NFE=0.0993;ExAC_nontcga_OTH=0.1096;ExAC_nontcga_SAS=0.1154;AF=0.1074;AF_popmax=0.1795;AF_male=0.1076;AF_female=0.1071;AF_raw=0.1078;AF_afr=0.1259;AF_sas=.;AF_amr=0.0638;AF_eas=0.1795;AF_nfe=0.0948;AF_fin=0.0944;AF_asj=0.1;AF_oth=0.1123;non_topmed_AF_popmax=0.1788;non_neuro_AF_popmax=0.1795;non_cancer_AF_popmax=.;controls_AF_popmax=0.1769;Kaviar_AF=0.0956003;Kaviar_AC=14780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215230 rs1662315 C T 100 PASS AC=55;AF=0.335663;AN=214;NS=2504;DP=19403;EAS_AF=0.6131;AMR_AF=0.2248;AFR_AF=0.2958;EUR_AF=0.2465;SAS_AF=0.274;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=MYOM1;GeneDetail.refGene=NM_003803:c.-9G>A\x3bNM_019856:c.-9G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1662315;CLNALLELEID=230907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2245;ExAC_nontcga_ALL=0.3084;ExAC_nontcga_AFR=0.3294;ExAC_nontcga_AMR=0.2527;ExAC_nontcga_EAS=0.6391;ExAC_nontcga_FIN=0.3020;ExAC_nontcga_NFE=0.2693;ExAC_nontcga_OTH=0.2848;ExAC_nontcga_SAS=0.2923;AF=0.2699;AF_popmax=0.6261;AF_male=0.2745;AF_female=0.2641;AF_raw=0.2701;AF_afr=0.2900;AF_sas=.;AF_amr=0.2158;AF_eas=0.6261;AF_nfe=0.2311;AF_fin=0.2569;AF_asj=0.2310;AF_oth=0.2440;non_topmed_AF_popmax=0.6266;non_neuro_AF_popmax=0.6261;non_cancer_AF_popmax=.;controls_AF_popmax=0.6162;Kaviar_AF=0.251064;Kaviar_AC=38815;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 +18 9102713 rs563736832 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11235;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NDUFV2;GeneDetail.refGene=NM_021074:c.-29G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563736832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.194e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.759e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000100502|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1879398|N/A|STAT1|PAZAR,OREG1480278|N/A|E2F4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1543500|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.548319;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +18 9102738 rs201985522 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11282;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NDUFV2;GeneDetail.refGene=NM_021074:c.-4C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201985522;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.982e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000100502|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0253837|N/A|YY1|JASPAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1879398|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.516286;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9117867 rs906807 T C 100 PASS AC=179;AF=0.778954;AN=214;NS=2504;DP=17344;EAS_AF=0.7063;AMR_AF=0.8026;AFR_AF=0.7368;EUR_AF=0.831;SAS_AF=0.8405;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;1000g2015aug_all=0.778954;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs906807;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.354;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.63;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_converted_rankscore=0.429;FATHMM_pred=T;PROVEAN_score=1.21;PROVEAN_converted_rankscore=0.011;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.022;MetaSVM_score=-0.966;MetaSVM_rankscore=0.380;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.112;REVEL_rankscore=0.321;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.840;CADD_raw_rankscore=0.174;CADD_phred=9.708;DANN_score=0.821;DANN_rankscore=0.135;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_rankscore=0.089;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.908;Eigen-PC-raw=-0.635;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.731;integrated_fitCons_score_rankscore=0.878;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=1.585;phyloP100way_vertebrate_rankscore=0.360;phyloP20way_mammalian=0.040;phyloP20way_mammalian_rankscore=0.155;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.747;phastCons20way_mammalian_rankscore=0.321;SiPhy_29way_logOdds=11.855;SiPhy_29way_logOdds_rankscore=0.515;Interpro_domain=.;GTEx_V6p_gene=ENSG00000178127.8;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8194;ExAC_nontcga_ALL=0.7980;ExAC_nontcga_AFR=0.7583;ExAC_nontcga_AMR=0.7602;ExAC_nontcga_EAS=0.7076;ExAC_nontcga_FIN=0.7420;ExAC_nontcga_NFE=0.8135;ExAC_nontcga_OTH=0.7882;ExAC_nontcga_SAS=0.8605;AF=0.7854;AF_popmax=0.8148;AF_male=0.7881;AF_female=0.7821;AF_raw=0.7850;AF_afr=0.7571;AF_sas=.;AF_amr=0.7748;AF_eas=0.7477;AF_nfe=0.8148;AF_fin=0.7330;AF_asj=0.8966;AF_oth=0.7965;non_topmed_AF_popmax=0.8107;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8130;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000568994|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251555|N/A|SMARCA4|PAZAR,OREG1221377|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.503277;ALLELE_END GT 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 9119489 rs41274300 A T 100 PASS AC=19;AF=0.0750799;AN=214;NS=2504;DP=17893;EAS_AF=0.002;AMR_AF=0.0634;AFR_AF=0.1536;EUR_AF=0.0915;SAS_AF=0.0358;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274300;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.0817;ExAC_nontcga_AFR=0.1578;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0363;ExAC_nontcga_NFE=0.1014;ExAC_nontcga_OTH=0.0710;ExAC_nontcga_SAS=0.0602;AF=0.1044;AF_popmax=0.1596;AF_male=0.1061;AF_female=0.1023;AF_raw=0.1045;AF_afr=0.1596;AF_sas=.;AF_amr=0.0675;AF_eas=0.0006;AF_nfe=0.1004;AF_fin=0.0423;AF_asj=0.1724;AF_oth=0.0783;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1586;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.705047;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274300;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.0817;ExAC_nontcga_AFR=0.1578;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0363;ExAC_nontcga_NFE=0.1014;ExAC_nontcga_OTH=0.0710;ExAC_nontcga_SAS=0.0602;AF=0.1044;AF_popmax=0.1596;AF_male=0.1061;AF_female=0.1023;AF_raw=0.1045;AF_afr=0.1596;AF_sas=.;AF_amr=0.0675;AF_eas=0.0006;AF_nfe=0.1004;AF_fin=0.0423;AF_asj=0.1724;AF_oth=0.0783;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1586;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.705047;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +18 9124799 rs35039643 CT C 100 PASS AC=142;AF=0.630391;AN=214;NS=2504;DP=13167;EAS_AF=0.6657;AMR_AF=0.6585;AFR_AF=0.4834;EUR_AF=0.6759;SAS_AF=0.726;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.630391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35039643;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5308;AF_popmax=0.7032;AF_male=0.5319;AF_female=0.5296;AF_raw=0.5244;AF_afr=0.3743;AF_sas=.;AF_amr=0.5802;AF_eas=0.7032;AF_nfe=0.5877;AF_fin=0.5758;AF_asj=0.5885;AF_oth=0.6121;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.7032;non_cancer_AF_popmax=.;controls_AF_popmax=0.7009;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.637622;ALLELE_END GT 1|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|1 1|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 0|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 0|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 +18 9124909 rs201708711 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12944;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon6:c.C507G:p.F169L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201708711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.155;MutationAssessor_score_rankscore=0.887;MutationAssessor_pred=M;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.880;PROVEAN_pred=D;VEST3_score=0.917;VEST3_rankscore=0.908;MetaSVM_score=-0.455;MetaSVM_rankscore=0.703;MetaSVM_pred=T;MetaLR_score=0.331;MetaLR_rankscore=0.699;MetaLR_pred=T;M-CAP_score=0.082;M-CAP_rankscore=0.740;M-CAP_pred=D;REVEL_score=0.495;REVEL_rankscore=0.783;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.683;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.338;Eigen-PC-raw=0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=1.691;phyloP100way_vertebrate_rankscore=0.371;phyloP20way_mammalian=0.039;phyloP20way_mammalian_rankscore=0.154;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.438;SiPhy_29way_logOdds_rankscore=0.376;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.892e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.198e-05;AF_popmax=6.5e-05;AF_male=0;AF_female=7.216e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.5e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.367e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.724504;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +18 9126856 rs149217248 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15795;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NDUFV2:NM_021074:exon7:c.G607T:p.E203X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149217248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=14.347;CADD_raw_rankscore=0.996;CADD_phred=45;DANN_score=0.996;DANN_rankscore=0.750;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.664;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.953;Eigen-PC-raw=0.817;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=2.730;phyloP100way_vertebrate_rankscore=0.468;phyloP20way_mammalian=1.047;phyloP20way_mammalian_rankscore=0.674;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.734;SiPhy_29way_logOdds_rankscore=0.882;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.464e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694918;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9134344 rs62088771 T C 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=18179;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62088771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0068;AF_popmax=0.0104;AF_male=0.0070;AF_female=0.0064;AF_raw=0.0067;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0.0006;AF_nfe=0.0104;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0108;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0016559;Kaviar_AC=256;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.248345;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9134354 rs12454908 C G 100 PASS AC=19;AF=0.0754792;AN=214;NS=2504;DP=18598;EAS_AF=0.002;AMR_AF=0.0634;AFR_AF=0.1543;EUR_AF=0.0924;SAS_AF=0.0358;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12454908;CLNALLELEID=353482;CLNDN=Mitochondrial_complex_I_deficiency;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1044;AF_popmax=0.1596;AF_male=0.1063;AF_female=0.1020;AF_raw=0.1044;AF_afr=0.1596;AF_sas=.;AF_amr=0.0662;AF_eas=0.0006;AF_nfe=0.1003;AF_fin=0.0426;AF_asj=0.1724;AF_oth=0.0781;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1557;non_cancer_AF_popmax=.;controls_AF_popmax=0.1580;Kaviar_AF=0.0194693;Kaviar_AC=3010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +18 19358240 rs45552034 G C 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=16842;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0298;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45552034;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0228;AF_popmax=0.0341;AF_male=0.0230;AF_female=0.0225;AF_raw=0.0228;AF_afr=0.0085;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0341;AF_fin=0.0200;AF_asj=0.0138;AF_oth=0.0248;non_topmed_AF_popmax=0.0322;non_neuro_AF_popmax=0.0344;non_cancer_AF_popmax=.;controls_AF_popmax=0.0294;Kaviar_AF=0.005595;Kaviar_AC=865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1580803|N/A|FOXA1|PAZAR,OREG1639411|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.156903;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19418264 rs141130227 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17560;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141130227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0006;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19423003 rs2276157 T C 100 PASS AC=20;AF=0.0872604;AN=214;NS=2504;DP=18739;EAS_AF=0.0298;AMR_AF=0.0778;AFR_AF=0.1566;EUR_AF=0.0736;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0850;AF_popmax=0.1260;AF_male=0.0872;AF_female=0.0823;AF_raw=0.0852;AF_afr=0.1260;AF_sas=.;AF_amr=0.0731;AF_eas=0.0276;AF_nfe=0.0748;AF_fin=0.0581;AF_asj=0.0862;AF_oth=0.0795;non_topmed_AF_popmax=0.1251;non_neuro_AF_popmax=0.1299;non_cancer_AF_popmax=.;controls_AF_popmax=0.1264;Kaviar_AF=0.0152973;Kaviar_AC=2365;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 19427096 rs11877131 A G 100 PASS AC=20;AF=0.0878594;AN=214;NS=2504;DP=17637;EAS_AF=0.0298;AMR_AF=0.0778;AFR_AF=0.1566;EUR_AF=0.0755;SAS_AF=0.0746;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11877131;CLNALLELEID=376706;CLNDN=Left_ventricular_noncompaction_7|not_specified;CLNDISDB=MedGen:C3554496,OMIM:615092|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0848;ExAC_nontcga_ALL=0.0845;ExAC_nontcga_AFR=0.1482;ExAC_nontcga_AMR=0.0413;ExAC_nontcga_EAS=0.0359;ExAC_nontcga_FIN=0.0694;ExAC_nontcga_NFE=0.0932;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0797;AF=0.0862;AF_popmax=0.1276;AF_male=0.0882;AF_female=0.0838;AF_raw=0.0863;AF_afr=0.1276;AF_sas=.;AF_amr=0.0731;AF_eas=0.0276;AF_nfe=0.0754;AF_fin=0.0614;AF_asj=0.0862;AF_oth=0.0821;non_topmed_AF_popmax=0.1267;non_neuro_AF_popmax=0.1301;non_cancer_AF_popmax=.;controls_AF_popmax=0.1262;Kaviar_AF=0.0780779;Kaviar_AC=12071;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.554109;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 19429173 rs146823897 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15580;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon17:c.C2410T:p.R804W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146823897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.544;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_converted_rankscore=0.377;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.817;VEST3_rankscore=0.805;MetaSVM_score=-1.024;MetaSVM_rankscore=0.226;MetaSVM_pred=T;MetaLR_score=0.082;MetaLR_rankscore=0.322;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.522;M-CAP_pred=D;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.064;CADD_raw_rankscore=0.940;CADD_phred=33;DANN_score=0.995;DANN_rankscore=0.659;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.831;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.097;Eigen-PC-raw=0.172;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.45;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=4.709;phyloP100way_vertebrate_rankscore=0.613;phyloP20way_mammalian=0.013;phyloP20way_mammalian_rankscore=0.140;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.262;SiPhy_29way_logOdds_rankscore=0.732;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.524e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.852e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.031782;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19444661 rs76056004 A C 100 PASS AC=20;AF=0.0856629;AN=214;NS=2504;DP=17140;EAS_AF=0.0298;AMR_AF=0.0749;AFR_AF=0.1513;EUR_AF=0.0726;SAS_AF=0.0757;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MIB1;GeneDetail.refGene=NM_020774:c.*34A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0856629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76056004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0815;ExAC_nontcga_ALL=0.0737;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0382;ExAC_nontcga_EAS=0.0314;ExAC_nontcga_FIN=0.0620;ExAC_nontcga_NFE=0.0795;ExAC_nontcga_OTH=0.0737;ExAC_nontcga_SAS=0.0730;AF=0.0825;AF_popmax=0.1207;AF_male=0.0847;AF_female=0.0798;AF_raw=0.0827;AF_afr=0.1207;AF_sas=.;AF_amr=0.0733;AF_eas=0.0276;AF_nfe=0.0730;AF_fin=0.0570;AF_asj=0.0828;AF_oth=0.0796;non_topmed_AF_popmax=0.1198;non_neuro_AF_popmax=0.1243;non_cancer_AF_popmax=.;controls_AF_popmax=0.1226;Kaviar_AF=0.0740159;Kaviar_AC=11443;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256525|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.699221;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 28647935 rs77431927 T A 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14292;EAS_AF=0.0169;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DSC2;GeneDetail.refGene=NM_024422:c.*46A>T\x3bNM_004949:c.*254A>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77431927;CLNALLELEID=341345;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0.0230;ExAC_nontcga_FIN=0.0078;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0031;AF=0.0041;AF_popmax=0.0160;AF_male=0.0042;AF_female=0.0040;AF_raw=0.0042;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0160;AF_nfe=0.0042;AF_fin=0.0078;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0164;non_neuro_AF_popmax=0.0160;non_cancer_AF_popmax=.;controls_AF_popmax=0.0164;Kaviar_AF=0.0039197;Kaviar_AC=606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28647996 rs555492553 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14745;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_024422:exon16:c.A2691G:p.A897A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555492553;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.436e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004683|hsa-miR-362-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.850691;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28647999 rs200056085 T TTC 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=14699;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.002;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DSC2:NM_024422:exon16:c.2687_2688insGA:p.E896fs;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200056085;CLNALLELEID=55351;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0082;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0032;AF=0.0102;AF_popmax=0.0169;AF_male=0.0097;AF_female=0.0107;AF_raw=0.0102;AF_afr=0.0011;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0101;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0172;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.850691;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28648200 rs1790682 C T 100 PASS AC=18;AF=0.0199681;AN=214;NS=2504;DP=16558;EAS_AF=0;AMR_AF=0.0476;AFR_AF=0.0008;EUR_AF=0.0547;SAS_AF=0.0112;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1790682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0607;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0090;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0181;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0101;AF=0.0353;AF_popmax=0.0586;AF_male=0.0345;AF_female=0.0362;AF_raw=0.0353;AF_afr=0.0084;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0586;AF_fin=0.0181;AF_asj=0.0276;AF_oth=0.0369;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0513;Kaviar_AF=0.0369788;Kaviar_AC=5717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659321;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1790682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0607;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0090;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0181;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0101;AF=0.0353;AF_popmax=0.0586;AF_male=0.0345;AF_female=0.0362;AF_raw=0.0353;AF_afr=0.0084;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0586;AF_fin=0.0181;AF_asj=0.0276;AF_oth=0.0369;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0513;Kaviar_AF=0.0369788;Kaviar_AC=5717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659321;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28648975 rs61731921 C T 100 PASS AC=9;AF=0.0275559;AN=214;NS=2504;DP=13872;EAS_AF=0.002;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0646;SAS_AF=0.0613;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.G2393A:p.R798Q,DSC2:NM_024422:exon15:c.G2393A:p.R798Q;1000g2015aug_all=0.0275559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731921;CLNALLELEID=44670;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.159;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.79;MutationAssessor_score_rankscore=0.196;MutationAssessor_pred=N;FATHMM_score=-1.79;FATHMM_converted_rankscore=0.838;FATHMM_pred=D;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.022;MetaSVM_score=-0.977;MetaSVM_rankscore=0.356;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.217;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.324;CADD_raw_rankscore=0.125;CADD_phred=5.922;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_rankscore=0.050;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.661;Eigen-PC-raw=-1.741;GenoCanyon_score=0.824;GenoCanyon_score_rankscore=0.246;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-5.21;GERP++_RS_rankscore=0.026;phyloP100way_vertebrate=-1.216;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.160;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=15.866;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0452;ExAC_nontcga_ALL=0.0505;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0157;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1191;ExAC_nontcga_NFE=0.0551;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0781;AF=0.0441;AF_popmax=0.0525;AF_male=0.0400;AF_female=0.0492;AF_raw=0.0441;AF_afr=0.0078;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0525;AF_fin=0.1193;AF_asj=0.0276;AF_oth=0.0667;non_topmed_AF_popmax=0.0565;non_neuro_AF_popmax=0.0511;non_cancer_AF_popmax=.;controls_AF_popmax=0.06;Kaviar_AF=0.0472762;Kaviar_AC=7309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.720223;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28649042 rs1893963 T C 100 PASS AC=15;AF=0.196486;AN=214;NS=2504;DP=16138;EAS_AF=0.0784;AMR_AF=0.1787;AFR_AF=0.472;EUR_AF=0.0994;SAS_AF=0.0583;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893963;CLNALLELEID=55343;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.155;LRT_converted_rankscore=0.178;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.8;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=0.18;PROVEAN_converted_rankscore=0.054;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.001;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.683;CADD_raw_rankscore=0.013;CADD_phred=0.002;DANN_score=0.586;DANN_rankscore=0.059;fathmm-MKL_coding_score=0.002;fathmm-MKL_coding_rankscore=0.013;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.549;Eigen-PC-raw=-1.360;GenoCanyon_score=0.354;GenoCanyon_score_rankscore=0.197;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.69;GERP++_RS_rankscore=0.413;phyloP100way_vertebrate=0.060;phyloP100way_vertebrate_rankscore=0.141;phyloP20way_mammalian=-0.324;phyloP20way_mammalian_rankscore=0.076;phastCons100way_vertebrate=0.018;phastCons100way_vertebrate_rankscore=0.193;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=10.511;SiPhy_29way_logOdds_rankscore=0.439;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134762.12;GTEx_V6p_tissue=Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0837;ExAC_nontcga_ALL=0.1193;ExAC_nontcga_AFR=0.4226;ExAC_nontcga_AMR=0.1789;ExAC_nontcga_EAS=0.0987;ExAC_nontcga_FIN=0.0593;ExAC_nontcga_NFE=0.0834;ExAC_nontcga_OTH=0.0951;ExAC_nontcga_SAS=0.0652;AF=0.1705;AF_popmax=0.3996;AF_male=0.1788;AF_female=0.1600;AF_raw=0.1708;AF_afr=0.3996;AF_sas=.;AF_amr=0.1604;AF_eas=0.1012;AF_nfe=0.0801;AF_fin=0.0578;AF_asj=0.1103;AF_oth=0.1037;non_topmed_AF_popmax=0.4004;non_neuro_AF_popmax=0.3885;non_cancer_AF_popmax=.;controls_AF_popmax=0.4003;Kaviar_AF=0.118148;Kaviar_AC=18266;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0017982|hsa-miR-3605-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0004601|hsa-miR-145-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.813745;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +18 28649144 rs151289743 G T 100 PASS AC=2;AF=0.00579073;AN=214;NS=2504;DP=19909;EAS_AF=0.002;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151289743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0132;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0199;ExAC_nontcga_NFE=0.0187;ExAC_nontcga_OTH=0.0203;ExAC_nontcga_SAS=0.0085;AF=0.0148;AF_popmax=0.0232;AF_male=0.0138;AF_female=0.0159;AF_raw=0.0148;AF_afr=0.0025;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0232;AF_fin=0.0184;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.025;Kaviar_AF=0.0138873;Kaviar_AC=2147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28649166 rs1893962 A G 100 PASS AC=10;AF=0.0611022;AN=214;NS=2504;DP=20217;EAS_AF=0.0774;AMR_AF=0.1153;AFR_AF=0.0424;EUR_AF=0.0616;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893962;CLNALLELEID=256647;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0498;ExAC_nontcga_ALL=0.0642;ExAC_nontcga_AFR=0.0426;ExAC_nontcga_AMR=0.1536;ExAC_nontcga_EAS=0.0980;ExAC_nontcga_FIN=0.0370;ExAC_nontcga_NFE=0.0553;ExAC_nontcga_OTH=0.0512;ExAC_nontcga_SAS=0.0394;AF=0.0499;AF_popmax=0.1191;AF_male=0.0526;AF_female=0.0465;AF_raw=0.0499;AF_afr=0.0418;AF_sas=.;AF_amr=0.1191;AF_eas=0.1021;AF_nfe=0.0486;AF_fin=0.0354;AF_asj=0.0586;AF_oth=0.0478;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1021;non_cancer_AF_popmax=.;controls_AF_popmax=0.1007;Kaviar_AF=0.0619397;Kaviar_AC=9576;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.810692;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +18 28650748 rs151024019 A C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16161;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon14:c.T2194G:p.L732V,DSC2:NM_024422:exon14:c.T2194G:p.L732V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151024019;CLNALLELEID=44669;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.896;SIFT_converted_rankscore=0.024;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_converted_rankscore=0.265;LRT_pred=N;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.244;MutationTaster_pred=N;MutationAssessor_score=1.25;MutationAssessor_score_rankscore=0.319;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_converted_rankscore=0.202;PROVEAN_pred=N;VEST3_score=0.632;VEST3_rankscore=0.650;MetaSVM_score=-0.941;MetaSVM_rankscore=0.425;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.301;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.412;M-CAP_pred=T;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.742;CADD_raw_rankscore=0.165;CADD_phred=9.099;DANN_score=0.682;DANN_rankscore=0.083;fathmm-MKL_coding_score=0.567;fathmm-MKL_coding_rankscore=0.299;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.755;Eigen-PC-raw=-0.672;GenoCanyon_score=0.652;GenoCanyon_score_rankscore=0.222;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-4.8;GERP++_RS_rankscore=0.029;phyloP100way_vertebrate=0.170;phyloP100way_vertebrate_rankscore=0.164;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.763;phastCons100way_vertebrate_rankscore=0.290;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.437;SiPhy_29way_logOdds_rankscore=0.157;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0024;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012678;Kaviar_AC=196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944164;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28654750 rs148185335 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=16267;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon12:c.C1787T:p.A596V,DSC2:NM_024422:exon12:c.C1787T:p.A596V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148185335;CLNALLELEID=55336;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.545;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.221;Polyphen2_HVAR_rankscore=0.408;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.46;MutationAssessor_score_rankscore=0.925;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.84;VEST3_rankscore=0.827;MetaSVM_score=-0.140;MetaSVM_rankscore=0.792;MetaSVM_pred=T;MetaLR_score=0.354;MetaLR_rankscore=0.718;MetaLR_pred=T;M-CAP_score=0.080;M-CAP_rankscore=0.734;M-CAP_pred=D;REVEL_score=0.427;REVEL_rankscore=0.738;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.177;CADD_raw_rankscore=0.560;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.860;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.649;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.413;Eigen-PC-raw=0.385;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=5.438;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.060;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=16.176;SiPhy_29way_logOdds_rankscore=0.816;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0030;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0011578;Kaviar_AC=179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0003339|hsa-miR-421|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.717268;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28660379 rs572632888 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22775;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572632888;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28666526 rs35717505 T TTAA 100 PASS AC=214;AF=0.996006;AN=214;NS=2504;DP=19674;EAS_AF=1;AMR_AF=1;AFR_AF=0.9849;EUR_AF=1;SAS_AF=1;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35717505;CLNALLELEID=55368;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9992;ExAC_nontcga_AFR=0.9913;ExAC_nontcga_AMR=0.9997;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9980;AF_popmax=1;AF_male=0.9982;AF_female=0.9977;AF_raw=0.9979;AF_afr=0.9928;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0292752;Kaviar_AC=4526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.856104;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 28666646 rs193922708 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon7:c.C835T:p.R279C,DSC2:NM_024422:exon7:c.C835T:p.R279C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193922708;CLNALLELEID=44671;CLNDN=Cardiomyopathy|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.969;Polyphen2_HVAR_rankscore=0.703;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.99;MutationAssessor_score_rankscore=0.860;MutationAssessor_pred=M;FATHMM_score=0.54;FATHMM_converted_rankscore=0.549;FATHMM_pred=T;PROVEAN_score=-5.29;PROVEAN_converted_rankscore=0.843;PROVEAN_pred=D;VEST3_score=0.586;VEST3_rankscore=0.614;MetaSVM_score=-0.491;MetaSVM_rankscore=0.690;MetaSVM_pred=T;MetaLR_score=0.402;MetaLR_rankscore=0.753;MetaLR_pred=T;M-CAP_score=0.393;M-CAP_rankscore=0.932;M-CAP_pred=D;REVEL_score=0.670;REVEL_rankscore=0.879;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.339;CADD_raw_rankscore=0.723;CADD_phred=25.8;DANN_score=0.999;DANN_rankscore=0.960;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_rankscore=0.155;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.232;Eigen-PC-raw=0.008;GenoCanyon_score=0.738;GenoCanyon_score_rankscore=0.231;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=1.691;phyloP100way_vertebrate_rankscore=0.371;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.012;phastCons100way_vertebrate_rankscore=0.185;phastCons20way_mammalian=0.574;phastCons20way_mammalian_rankscore=0.284;SiPhy_29way_logOdds=12.102;SiPhy_29way_logOdds_rankscore=0.529;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.54e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.366e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.782558;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28669387 rs201596999 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14487;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201596999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.065063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28669470 rs146754448 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14033;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon5:c.G562T:p.V188L,DSC2:NM_024422:exon5:c.G562T:p.V188L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146754448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.184;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.095;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.757;LRT_converted_rankscore=0.096;LRT_pred=N;MutationTaster_score=0.547;MutationTaster_converted_rankscore=0.321;MutationTaster_pred=D;MutationAssessor_score=0.855;MutationAssessor_score_rankscore=0.214;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_converted_rankscore=0.216;PROVEAN_pred=N;VEST3_score=0.308;VEST3_rankscore=0.369;MetaSVM_score=-0.885;MetaSVM_rankscore=0.494;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_rankscore=0.388;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.982;CADD_raw_rankscore=0.419;CADD_phred=22.2;DANN_score=0.990;DANN_rankscore=0.505;fathmm-MKL_coding_score=0.558;fathmm-MKL_coding_rankscore=0.297;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.257;Eigen-PC-raw=-0.097;GenoCanyon_score=0.277;GenoCanyon_score_rankscore=0.190;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.04;GERP++_RS_rankscore=0.340;phyloP100way_vertebrate=0.600;phyloP100way_vertebrate_rankscore=0.236;phyloP20way_mammalian=0.876;phyloP20way_mammalian_rankscore=0.383;phastCons100way_vertebrate=0.961;phastCons100way_vertebrate_rankscore=0.334;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=5.774;SiPhy_29way_logOdds_rankscore=0.174;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933617;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 28670946 rs149188953 G C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=18946;EAS_AF=0.002;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149188953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0050;AF=0.0101;AF_popmax=0.0169;AF_male=0.0099;AF_female=0.0104;AF_raw=0.0101;AF_afr=0.0013;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0095;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0181;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0219;Kaviar_AF=0.0086868;Kaviar_AC=1343;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.264198;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28671068 rs200218585 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18150;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon4:c.G397A:p.A133T,DSC2:NM_024422:exon4:c.G397A:p.A133T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200218585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.356;SIFT_converted_rankscore=0.120;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.170;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=1.295;MutationAssessor_score_rankscore=0.326;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.176;VEST3_rankscore=0.214;MetaSVM_score=-1.039;MetaSVM_rankscore=0.175;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.377;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.510;M-CAP_pred=D;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.476;CADD_raw_rankscore=0.140;CADD_phred=7.243;DANN_score=0.785;DANN_rankscore=0.119;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.268;Eigen-PC-raw=-1.269;GenoCanyon_score=0.786;GenoCanyon_score_rankscore=0.239;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-0.722;GERP++_RS_rankscore=0.106;phyloP100way_vertebrate=-0.267;phyloP100way_vertebrate_rankscore=0.086;phyloP20way_mammalian=-1.181;phyloP20way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.054;phastCons20way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=6.171;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.605e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.027e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.582e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.371e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=7.183e-05;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.837421;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28671130 rs565437248 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18467;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565437248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.768e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.923e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.249109;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28672067 rs117812913 T C 100 PASS AC=3;AF=0.00379393;AN=214;NS=2504;DP=14523;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon3:c.A351G:p.T117T,DSC2:NM_024422:exon3:c.A351G:p.T117T;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117812913;CLNALLELEID=55353;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0117;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0187;ExAC_nontcga_NFE=0.0127;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0025;AF=0.0101;AF_popmax=0.0152;AF_male=0.0093;AF_female=0.0112;AF_raw=0.0101;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0152;AF_fin=0.0164;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0152;non_cancer_AF_popmax=.;controls_AF_popmax=0.0217;Kaviar_AF=0.0087386;Kaviar_AC=1351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904930;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28673565 rs12954874 T C 100 PASS AC=25;AF=0.123602;AN=214;NS=2504;DP=13763;EAS_AF=0.1399;AMR_AF=0.1643;AFR_AF=0.084;EUR_AF=0.1014;SAS_AF=0.1544;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L;1000g2015aug_all=0.123602;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12954874;CLNALLELEID=55328;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1210;ExAC_nontcga_ALL=0.1115;ExAC_nontcga_AFR=0.0827;ExAC_nontcga_AMR=0.1657;ExAC_nontcga_EAS=0.1306;ExAC_nontcga_FIN=0.0425;ExAC_nontcga_NFE=0.1084;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.1207;AF=0.0992;AF_popmax=0.1487;AF_male=0.0970;AF_female=0.1019;AF_raw=0.0995;AF_afr=0.0822;AF_sas=.;AF_amr=0.1487;AF_eas=0.1161;AF_nfe=0.1166;AF_fin=0.0374;AF_asj=0.1552;AF_oth=0.1074;non_topmed_AF_popmax=0.1508;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1398;Kaviar_AF=0.113071;Kaviar_AC=17481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531283;ALLELE_END GT 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 +18 29078121 rs149048465 G C 100 PASS AC=1;AF=0.00738818;AN=214;NS=2504;DP=7448;EAS_AF=0.0298;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSG2;GeneDetail.refGene=NM_001943:c.-94G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149048465;CLNALLELEID=348176;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0061;AF_popmax=0.0495;AF_male=0.0066;AF_female=0.0054;AF_raw=0.0061;AF_afr=0.0003;AF_sas=.;AF_amr=0.0073;AF_eas=0.0495;AF_nfe=0.0042;AF_fin=0.0076;AF_asj=0.0070;AF_oth=0.0093;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0495;non_cancer_AF_popmax=.;controls_AF_popmax=0.0514;Kaviar_AF=0.0041494;Kaviar_AC=108;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000101963|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.573500;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29078160 rs551539015 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=7880;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSG2;GeneDetail.refGene=NM_001943:c.-55G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551539015;CLNALLELEID=348180;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0015;AF_popmax=0.0027;AF_male=0.0017;AF_female=0.0014;AF_raw=0.0015;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0027;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0074535;Kaviar_AC=194;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000101963|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.775761;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29078333 rs537762282 C G 100 PASS 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GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098253 rs529231700 G T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098254 rs547399759 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19227;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547399759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.937025;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098323 rs2276149 G A 100 PASS AC=73;AF=0.369209;AN=214;NS=2504;DP=17295;EAS_AF=0.3294;AMR_AF=0.3372;AFR_AF=0.4546;EUR_AF=0.3777;SAS_AF=0.3088;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.369209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276149;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3994;AF_popmax=0.4326;AF_male=0.4005;AF_female=0.3981;AF_raw=0.3993;AF_afr=0.4326;AF_sas=.;AF_amr=0.3960;AF_eas=0.3206;AF_nfe=0.3890;AF_fin=0.4106;AF_asj=0.3427;AF_oth=0.3766;non_topmed_AF_popmax=0.4328;non_neuro_AF_popmax=0.4407;non_cancer_AF_popmax=.;controls_AF_popmax=0.4458;Kaviar_AF=0.0734855;Kaviar_AC=11361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669675;ALLELE_END GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29098345 rs9807377 C T 100 PASS AC=43;AF=0.219848;AN=214;NS=2504;DP=17699;EAS_AF=0.2867;AMR_AF=0.2738;AFR_AF=0.0946;EUR_AF=0.2694;SAS_AF=0.2311;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.219848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9807377;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2424;AF_popmax=0.3187;AF_male=0.2401;AF_female=0.2454;AF_raw=0.2422;AF_afr=0.1316;AF_sas=.;AF_amr=0.3187;AF_eas=0.2913;AF_nfe=0.2725;AF_fin=0.3411;AF_asj=0.1979;AF_oth=0.2698;non_topmed_AF_popmax=0.3238;non_neuro_AF_popmax=0.32;non_cancer_AF_popmax=.;controls_AF_popmax=0.3049;Kaviar_AF=0.0511766;Kaviar_AC=7912;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.295206;ALLELE_END GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29099850 rs121913013 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16402;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon3:c.G166A:p.V56M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121913013;CLNALLELEID=31857;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_risk_factor;SIFT_score=0.012;SIFT_converted_rankscore=0.546;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.788;Polyphen2_HVAR_rankscore=0.558;Polyphen2_HVAR_pred=P;LRT_score=0.059;LRT_converted_rankscore=0.224;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=A;MutationAssessor_score=1.47;MutationAssessor_score_rankscore=0.371;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST3_score=0.81;VEST3_rankscore=0.801;MetaSVM_score=-0.778;MetaSVM_rankscore=0.564;MetaSVM_pred=T;MetaLR_score=0.245;MetaLR_rankscore=0.614;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.774;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.962;DANN_rankscore=0.284;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.389;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.21;GERP++_RS_rankscore=0.719;phyloP100way_vertebrate=6.623;phyloP100way_vertebrate_rankscore=0.739;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.766;phastCons20way_mammalian_rankscore=0.326;SiPhy_29way_logOdds=17.299;SiPhy_29way_logOdds_rankscore=0.870;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0015;AF_popmax=0.0021;AF_male=0.0017;AF_female=0.0012;AF_raw=0.0015;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0021;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.897715;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29101010 rs150251421 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16545;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150251421;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.253135;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29101230 rs55657337 T A 100 PASS AC=31;AF=0.141374;AN=214;NS=2504;DP=14059;EAS_AF=0.0446;AMR_AF=0.062;AFR_AF=0.3321;EUR_AF=0.1083;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55657337;CLNALLELEID=186570;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0699;ExAC_nontcga_ALL=0.1021;ExAC_nontcga_AFR=0.2665;ExAC_nontcga_AMR=0.0521;ExAC_nontcga_EAS=0.0401;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.1141;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.0682;AF=0.1467;AF_popmax=0.2756;AF_male=0.1503;AF_female=0.1421;AF_raw=0.1469;AF_afr=0.2756;AF_sas=.;AF_amr=0.0775;AF_eas=0.0297;AF_nfe=0.1115;AF_fin=0.0598;AF_asj=0.1434;AF_oth=0.0990;non_topmed_AF_popmax=0.2764;non_neuro_AF_popmax=0.2831;non_cancer_AF_popmax=.;controls_AF_popmax=0.2913;Kaviar_AF=0.0143012;Kaviar_AC=2211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29104564 rs3737378 C A 100 PASS AC=44;AF=0.211462;AN=214;NS=2504;DP=17687;EAS_AF=0.2847;AMR_AF=0.2536;AFR_AF=0.0779;EUR_AF=0.2664;SAS_AF=0.2301;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211462;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3737378;CLNALLELEID=256649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2609;ExAC_nontcga_ALL=0.2512;ExAC_nontcga_AFR=0.1128;ExAC_nontcga_AMR=0.2942;ExAC_nontcga_EAS=0.2975;ExAC_nontcga_FIN=0.3388;ExAC_nontcga_NFE=0.2530;ExAC_nontcga_OTH=0.2669;ExAC_nontcga_SAS=0.2272;AF=0.2348;AF_popmax=0.3208;AF_male=0.2320;AF_female=0.2384;AF_raw=0.2348;AF_afr=0.1208;AF_sas=.;AF_amr=0.3208;AF_eas=0.2889;AF_nfe=0.265;AF_fin=0.3371;AF_asj=0.1931;AF_oth=0.2606;non_topmed_AF_popmax=0.3259;non_neuro_AF_popmax=0.3177;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.244977;Kaviar_AC=37874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.102655;ALLELE_END GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29104632 rs201953902 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18096;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201953902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.948e-05;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=8.98e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.648853;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29104698 rs2230233 C T 100 PASS AC=74;AF=0.526558;AN=214;NS=2504;DP=19611;EAS_AF=0.502;AMR_AF=0.415;AFR_AF=0.8578;EUR_AF=0.3757;SAS_AF=0.3384;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;1000g2015aug_all=0.526558;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230233;CLNALLELEID=53496;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3787;ExAC_nontcga_ALL=0.4110;ExAC_nontcga_AFR=0.8024;ExAC_nontcga_AMR=0.4023;ExAC_nontcga_EAS=0.4885;ExAC_nontcga_FIN=0.4107;ExAC_nontcga_NFE=0.3679;ExAC_nontcga_OTH=0.3696;ExAC_nontcga_SAS=0.3223;AF=0.5048;AF_popmax=0.7913;AF_male=0.5088;AF_female=0.4999;AF_raw=0.5044;AF_afr=0.7913;AF_sas=.;AF_amr=0.4504;AF_eas=0.4942;AF_nfe=0.3800;AF_fin=0.4039;AF_asj=0.3517;AF_oth=0.3987;non_topmed_AF_popmax=0.7918;non_neuro_AF_popmax=0.8003;non_cancer_AF_popmax=.;controls_AF_popmax=0.7983;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.858351;ALLELE_END GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|1 0|0 +18 29104714 rs2230234 A G 100 PASS AC=23;AF=0.0323482;AN=214;NS=2504;DP=19637;EAS_AF=0.001;AMR_AF=0.036;AFR_AF=0.003;EUR_AF=0.0954;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.A877G:p.I293V;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230234;CLNALLELEID=53498;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.073;MutationTaster_converted_rankscore=0.368;MutationTaster_pred=P;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_converted_rankscore=0.421;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.081;MetaSVM_score=-1.048;MetaSVM_rankscore=0.149;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.997;CADD_raw_rankscore=0.537;CADD_phred=23.6;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_rankscore=0.583;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.274;Eigen-PC-raw=0.257;GenoCanyon_score=0.960;GenoCanyon_score_rankscore=0.284;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=2.196;phyloP100way_vertebrate_rankscore=0.421;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=12.080;SiPhy_29way_logOdds_rankscore=0.528;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=ENSG00000266521.1;GTEx_V6p_tissue=Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.0680;ExAC_nontcga_AFR=0.0142;ExAC_nontcga_AMR=0.0399;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1450;ExAC_nontcga_NFE=0.0895;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.0433;AF=0.0717;AF_popmax=0.0937;AF_male=0.0683;AF_female=0.0759;AF_raw=0.0717;AF_afr=0.0115;AF_sas=.;AF_amr=0.0578;AF_eas=0.0006;AF_nfe=0.0937;AF_fin=0.1545;AF_asj=0.0897;AF_oth=0.0847;non_topmed_AF_popmax=0.0966;non_neuro_AF_popmax=0.0934;non_cancer_AF_popmax=.;controls_AF_popmax=0.1036;Kaviar_AF=0.0683626;Kaviar_AC=10569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.893970;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +18 29104878 rs62095194 G A 100 PASS AC=44;AF=0.216254;AN=214;NS=2504;DP=19416;EAS_AF=0.2847;AMR_AF=0.2608;AFR_AF=0.0908;EUR_AF=0.2664;SAS_AF=0.2321;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62095194;CLNALLELEID=256650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2614;ExAC_nontcga_ALL=0.2542;ExAC_nontcga_AFR=0.1248;ExAC_nontcga_AMR=0.2983;ExAC_nontcga_EAS=0.2991;ExAC_nontcga_FIN=0.3400;ExAC_nontcga_NFE=0.2558;ExAC_nontcga_OTH=0.2718;ExAC_nontcga_SAS=0.2285;AF=0.2380;AF_popmax=0.3199;AF_male=0.2354;AF_female=0.2412;AF_raw=0.2382;AF_afr=0.1305;AF_sas=.;AF_amr=0.3199;AF_eas=0.2875;AF_nfe=0.2658;AF_fin=0.3377;AF_asj=0.1931;AF_oth=0.2624;non_topmed_AF_popmax=0.3251;non_neuro_AF_popmax=0.3164;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.247856;Kaviar_AC=38319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.570463;ALLELE_END GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29116462 rs2276150 T C 100 PASS AC=33;AF=0.14357;AN=214;NS=2504;DP=19047;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.3328;EUR_AF=0.1103;SAS_AF=0.0777;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1545;AF_popmax=0.2926;AF_male=0.1571;AF_female=0.1512;AF_raw=0.1547;AF_afr=0.2926;AF_sas=.;AF_amr=0.0849;AF_eas=0.0295;AF_nfe=0.1162;AF_fin=0.0671;AF_asj=0.1483;AF_oth=0.1075;non_topmed_AF_popmax=0.2937;non_neuro_AF_popmax=0.2951;non_cancer_AF_popmax=.;controls_AF_popmax=0.3008;Kaviar_AF=0.0221407;Kaviar_AC=3423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.719724;ALLELE_END GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29122618 rs79241126 G A 100 PASS AC=14;AF=0.0259585;AN=214;NS=2504;DP=20214;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.0015;EUR_AF=0.0885;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2137A:p.E713K;1000g2015aug_all=0.0259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79241126;CLNALLELEID=53462;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.109;SIFT_converted_rankscore=0.292;SIFT_pred=T;Polyphen2_HDIV_score=0.913;Polyphen2_HDIV_rankscore=0.485;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_converted_rankscore=0.231;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.21;FATHMM_converted_rankscore=0.600;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.283;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.129;MetaSVM_score=-1.097;MetaSVM_rankscore=0.044;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.194;CADD_raw_rankscore=0.209;CADD_phred=11.71;DANN_score=0.979;DANN_rankscore=0.362;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.099;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.428;Eigen-PC-raw=-0.485;GenoCanyon_score=0.881;GenoCanyon_score_rankscore=0.256;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=3.21;GERP++_RS_rankscore=0.358;phyloP100way_vertebrate=0.591;phyloP100way_vertebrate_rankscore=0.235;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.146;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=7.777;SiPhy_29way_logOdds_rankscore=0.280;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0777;ExAC_nontcga_ALL=0.0494;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.0263;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0953;ExAC_nontcga_NFE=0.0723;ExAC_nontcga_OTH=0.0551;ExAC_nontcga_SAS=0.0136;AF=0.0603;AF_popmax=0.0845;AF_male=0.0576;AF_female=0.0638;AF_raw=0.0604;AF_afr=0.0138;AF_sas=.;AF_amr=0.0426;AF_eas=0;AF_nfe=0.0845;AF_fin=0.1007;AF_asj=0.0590;AF_oth=0.0618;non_topmed_AF_popmax=0.0885;non_neuro_AF_popmax=0.0832;non_cancer_AF_popmax=.;controls_AF_popmax=0.0935;Kaviar_AF=0.0534728;Kaviar_AC=8267;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.730255;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +18 29122799 rs2278792 G A 100 PASS AC=41;AF=0.240016;AN=214;NS=2504;DP=17143;EAS_AF=0.4643;AMR_AF=0.2536;AFR_AF=0.0333;EUR_AF=0.2624;SAS_AF=0.2556;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2318A:p.R773K;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278792;CLNALLELEID=53467;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.383;SIFT_converted_rankscore=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_rankscore=0.198;Polyphen2_HVAR_pred=B;LRT_score=0.270;LRT_converted_rankscore=0.151;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=2.135;MutationAssessor_score_rankscore=0.597;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_converted_rankscore=0.129;PROVEAN_pred=N;VEST3_score=0.024;VEST3_rankscore=0.007;MetaSVM_score=-0.946;MetaSVM_rankscore=0.417;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.152;CADD_raw_rankscore=0.320;CADD_phred=17.19;DANN_score=0.940;DANN_rankscore=0.235;fathmm-MKL_coding_score=0.805;fathmm-MKL_coding_rankscore=0.398;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.690;Eigen-PC-raw=-0.554;GenoCanyon_score=0.836;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.2;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=1.828;phyloP100way_vertebrate_rankscore=0.385;phyloP20way_mammalian=0.133;phyloP20way_mammalian_rankscore=0.217;phastCons100way_vertebrate=0.924;phastCons100way_vertebrate_rankscore=0.318;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=10.588;SiPhy_29way_logOdds_rankscore=0.443;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2540;ExAC_nontcga_ALL=0.2692;ExAC_nontcga_AFR=0.0708;ExAC_nontcga_AMR=0.2941;ExAC_nontcga_EAS=0.4769;ExAC_nontcga_FIN=0.3425;ExAC_nontcga_NFE=0.2549;ExAC_nontcga_OTH=0.2780;ExAC_nontcga_SAS=0.2712;AF=0.2286;AF_popmax=0.4429;AF_male=0.2271;AF_female=0.2305;AF_raw=0.2293;AF_afr=0.0777;AF_sas=.;AF_amr=0.3101;AF_eas=0.4429;AF_nfe=0.2606;AF_fin=0.3417;AF_asj=0.1923;AF_oth=0.2547;non_topmed_AF_popmax=0.4406;non_neuro_AF_popmax=0.4429;non_cancer_AF_popmax=.;controls_AF_popmax=0.4330;Kaviar_AF=0.256601;Kaviar_AC=39671;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929106;ALLELE_END GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29125854 rs1042769 A G 100 PASS AC=29;AF=0.197484;AN=214;NS=2504;DP=16684;EAS_AF=0.2222;AMR_AF=0.1383;AFR_AF=0.3661;EUR_AF=0.1004;SAS_AF=0.0859;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;1000g2015aug_all=0.197484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042769;CLNALLELEID=53469;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1076;ExAC_nontcga_ALL=0.1279;ExAC_nontcga_AFR=0.3562;ExAC_nontcga_AMR=0.1225;ExAC_nontcga_EAS=0.1898;ExAC_nontcga_FIN=0.0714;ExAC_nontcga_NFE=0.1085;ExAC_nontcga_OTH=0.0812;ExAC_nontcga_SAS=0.0736;AF=0.1765;AF_popmax=0.3496;AF_male=0.1819;AF_female=0.1698;AF_raw=0.1770;AF_afr=0.3496;AF_sas=.;AF_amr=0.1220;AF_eas=0.2046;AF_nfe=0.1089;AF_fin=0.0662;AF_asj=0.1517;AF_oth=0.1160;non_topmed_AF_popmax=0.3510;non_neuro_AF_popmax=0.3509;non_cancer_AF_popmax=.;controls_AF_popmax=0.3502;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.924682;ALLELE_END GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29126108 rs142841727 T G 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=21083;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T2759G:p.V920G;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142841727;CLNALLELEID=53474;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_converted_rankscore=0.421;SIFT_pred=D;Polyphen2_HDIV_score=0.666;Polyphen2_HDIV_rankscore=0.391;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_rankscore=0.327;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_converted_rankscore=0.243;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-1.13;FATHMM_converted_rankscore=0.777;FATHMM_pred=T;PROVEAN_score=-1.46;PROVEAN_converted_rankscore=0.358;PROVEAN_pred=N;VEST3_score=0.812;VEST3_rankscore=0.807;MetaSVM_score=-0.901;MetaSVM_rankscore=0.479;MetaSVM_pred=T;MetaLR_score=0.178;MetaLR_rankscore=0.523;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.522;REVEL_rankscore=0.800;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.890;CADD_raw_rankscore=0.524;CADD_phred=23.5;DANN_score=0.896;DANN_rankscore=0.184;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.699;Eigen-PC-raw=-0.750;GenoCanyon_score=0.802;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.5;GERP++_RS_rankscore=0.292;phyloP100way_vertebrate=0.145;phyloP100way_vertebrate_rankscore=0.159;phyloP20way_mammalian=0.084;phyloP20way_mammalian_rankscore=0.191;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.588;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=6.805;SiPhy_29way_logOdds_rankscore=0.228;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0050;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0003;AF=0.0031;AF_popmax=0.0083;AF_male=0.0038;AF_female=0.0023;AF_raw=0.0031;AF_afr=0.0022;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805216;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 29126592 rs11542379 C T 100 PASS AC=1;AF=0.0103834;AN=214;NS=2504;DP=19584;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0287;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.C3243T:p.V1081V;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11542379;CLNALLELEID=53479;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0258;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0002;AF=0.0091;AF_popmax=0.0230;AF_male=0.0088;AF_female=0.0096;AF_raw=0.0091;AF_afr=0.0230;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0230;non_cancer_AF_popmax=.;controls_AF_popmax=0.0257;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000690|hsa-miR-296-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.707654;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29126670 rs1791235 T C 100 PASS AC=74;AF=0.542931;AN=214;NS=2504;DP=21123;EAS_AF=0.7361;AMR_AF=0.428;AFR_AF=0.7315;EUR_AF=0.3748;SAS_AF=0.3436;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;1000g2015aug_all=0.542931;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1791235;CLNALLELEID=53482;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3777;ExAC_nontcga_ALL=0.4238;ExAC_nontcga_AFR=0.6972;ExAC_nontcga_AMR=0.4370;ExAC_nontcga_EAS=0.7061;ExAC_nontcga_FIN=0.4153;ExAC_nontcga_NFE=0.3694;ExAC_nontcga_OTH=0.3725;ExAC_nontcga_SAS=0.3245;AF=0.4888;AF_popmax=0.6981;AF_male=0.4934;AF_female=0.4831;AF_raw=0.4886;AF_afr=0.6909;AF_sas=.;AF_amr=0.4776;AF_eas=0.6981;AF_nfe=0.3816;AF_fin=0.4073;AF_asj=0.3517;AF_oth=0.3996;non_topmed_AF_popmax=0.6971;non_neuro_AF_popmax=0.6981;non_cancer_AF_popmax=.;controls_AF_popmax=0.6934;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.903203;ALLELE_END GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29171787 rs538940182 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18098;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TTR;GeneDetail.refGene=NM_000371:c.-79C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538940182;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001016941|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1631307|N/A|FOXA1|PAZAR,OREG1572593|N/A|FOXA1|PAZAR,OREG1167690|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855012;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +18 29172865 rs1800458 G A 100 PASS AC=9;AF=0.0233626;AN=214;NS=2504;DP=20339;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0015;EUR_AF=0.0785;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon2:c.G76A:p.G26S;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800458;CLNALLELEID=28491;CLNDN=TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=.|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=-3.64;FATHMM_converted_rankscore=0.951;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_converted_rankscore=0.057;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.103;MetaSVM_score=-0.841;MetaSVM_rankscore=0.526;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.088;CADD_raw_rankscore=0.086;CADD_phred=1.822;DANN_score=0.328;DANN_rankscore=0.019;fathmm-MKL_coding_score=0.253;fathmm-MKL_coding_rankscore=0.225;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.935;Eigen-PC-raw=-0.889;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=1.391;phyloP100way_vertebrate_rankscore=0.339;phyloP20way_mammalian=0.096;phyloP20way_mammalian_rankscore=0.197;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.012;phastCons20way_mammalian_rankscore=0.117;SiPhy_29way_logOdds=8.142;SiPhy_29way_logOdds_rankscore=0.301;Interpro_domain=Transthyretin/hydroxyisourate_hydrolase,_superfamily;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0474;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0227;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0939;ExAC_nontcga_NFE=0.0698;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0131;AF=0.0585;AF_popmax=0.0818;AF_male=0.0560;AF_female=0.0617;AF_raw=0.0586;AF_afr=0.0145;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0818;AF_fin=0.1004;AF_asj=0.0556;AF_oth=0.0561;non_topmed_AF_popmax=0.0834;non_neuro_AF_popmax=0.0810;non_cancer_AF_popmax=.;controls_AF_popmax=0.0849;Kaviar_AF=0.0509825;Kaviar_AC=7882;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.333449;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +18 29178513 rs36204272 G C 100 PASS AC=10;AF=0.0660942;AN=214;NS=2504;DP=15757;EAS_AF=0.0675;AMR_AF=0.1081;AFR_AF=0.0991;EUR_AF=0.0348;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36204272;CLNALLELEID=45553;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0383;ExAC_nontcga_ALL=0.0538;ExAC_nontcga_AFR=0.0998;ExAC_nontcga_AMR=0.1662;ExAC_nontcga_EAS=0.0706;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0347;ExAC_nontcga_OTH=0.0334;ExAC_nontcga_SAS=0.0216;AF=0.0586;AF_popmax=0.1120;AF_male=0.0591;AF_female=0.0580;AF_raw=0.0588;AF_afr=0.0958;AF_sas=.;AF_amr=0.1120;AF_eas=0.0759;AF_nfe=0.0441;AF_fin=0.0190;AF_asj=0.0208;AF_oth=0.0377;non_topmed_AF_popmax=0.1148;non_neuro_AF_popmax=0.1065;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.0510472;Kaviar_AC=7892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128424;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +18 32335915 rs6650658 A G 100 PASS AC=19;AF=0.0479233;AN=214;NS=2504;DP=18580;EAS_AF=0.001;AMR_AF=0.0432;AFR_AF=0.0915;EUR_AF=0.0805;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6650658;CLNALLELEID=190152;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0628;ExAC_nontcga_AFR=0.1060;ExAC_nontcga_AMR=0.0347;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0719;ExAC_nontcga_NFE=0.0846;ExAC_nontcga_OTH=0.0682;ExAC_nontcga_SAS=0.0121;AF=0.0832;AF_popmax=0.1027;AF_male=0.0837;AF_female=0.0825;AF_raw=0.0833;AF_afr=0.1027;AF_sas=.;AF_amr=0.0331;AF_eas=0.0006;AF_nfe=0.0868;AF_fin=0.0716;AF_asj=0.0517;AF_oth=0.0773;non_topmed_AF_popmax=0.1018;non_neuro_AF_popmax=0.1027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0987;Kaviar_AF=0.0624701;Kaviar_AC=9658;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.984495;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 +18 32374062 rs117571555 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19838;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon3:c.G210A:p.L70L,DTNA:NM_001391:exon3:c.G210A:p.L70L,DTNA:NM_001198941:exon4:c.G210A:p.L70L,DTNA:NM_032978:exon4:c.G210A:p.L70L,DTNA:NM_001128175:exon5:c.G210A:p.L70L,DTNA:NM_001198938:exon5:c.G210A:p.L70L,DTNA:NM_001198939:exon5:c.G210A:p.L70L,DTNA:NM_001198940:exon5:c.G210A:p.L70L,DTNA:NM_001198945:exon5:c.G210A:p.L70L,DTNA:NM_001392:exon5:c.G210A:p.L70L,DTNA:NM_032975:exon5:c.G210A:p.L70L,DTNA:NM_032979:exon5:c.G210A:p.L70L;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117571555;CLNALLELEID=44693;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0048;AF_popmax=0.0083;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0022;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0083;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.004793;Kaviar_AC=741;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731206;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32386101 rs11664472 C A 100 PASS AC=23;AF=0.152356;AN=214;NS=2504;DP=21196;EAS_AF=0.0119;AMR_AF=0.0821;AFR_AF=0.3812;EUR_AF=0.0954;SAS_AF=0.0961;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11664472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1843;AF_popmax=0.3512;AF_male=0.1836;AF_female=0.1853;AF_raw=0.1849;AF_afr=0.3512;AF_sas=.;AF_amr=0.0672;AF_eas=0.0090;AF_nfe=0.1279;AF_fin=0.1483;AF_asj=0.1;AF_oth=0.1342;non_topmed_AF_popmax=0.3522;non_neuro_AF_popmax=0.3493;non_cancer_AF_popmax=.;controls_AF_popmax=0.3527;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32386125 rs4458079 T C 100 PASS AC=35;AF=0.1248;AN=214;NS=2504;DP=20624;EAS_AF=0.2113;AMR_AF=0.1729;AFR_AF=0.0227;EUR_AF=0.1322;SAS_AF=0.1319;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4458079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1021;AF_popmax=0.2017;AF_male=0.1040;AF_female=0.0998;AF_raw=0.1022;AF_afr=0.0477;AF_sas=.;AF_amr=0.2017;AF_eas=0.1887;AF_nfe=0.1175;AF_fin=0.1079;AF_asj=0.1276;AF_oth=0.0919;non_topmed_AF_popmax=0.2049;non_neuro_AF_popmax=0.1887;non_cancer_AF_popmax=.;controls_AF_popmax=0.2154;Kaviar_AF=0.023305;Kaviar_AC=3603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.065509;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 +18 32386340 rs9952711 T C 100 PASS AC=23;AF=0.152356;AN=214;NS=2504;DP=20047;EAS_AF=0.0119;AMR_AF=0.0821;AFR_AF=0.3812;EUR_AF=0.0954;SAS_AF=0.0961;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9952711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1849;AF_popmax=0.3526;AF_male=0.1838;AF_female=0.1863;AF_raw=0.1851;AF_afr=0.3526;AF_sas=.;AF_amr=0.0674;AF_eas=0.0090;AF_nfe=0.1280;AF_fin=0.1485;AF_asj=0.1;AF_oth=0.1344;non_topmed_AF_popmax=0.3537;non_neuro_AF_popmax=0.3500;non_cancer_AF_popmax=.;controls_AF_popmax=0.3526;Kaviar_AF=0.0232274;Kaviar_AC=3591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32398330 rs139673882 G C 100 PASS 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1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001017152|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.354172;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32400909 rs3216115 AC A 100 PASS AC=22;AF=0.114617;AN=214;NS=2504;DP=16866;EAS_AF=0.0129;AMR_AF=0.0706;AFR_AF=0.239;EUR_AF=0.0954;SAS_AF=0.1022;AA=C|C|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.1094;ExAC_nontcga_AFR=0.2342;ExAC_nontcga_AMR=0.0427;ExAC_nontcga_EAS=0.0113;ExAC_nontcga_FIN=0.1536;ExAC_nontcga_NFE=0.1095;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.1140;AF=0.1526;AF_popmax=0.2363;AF_male=0.1504;AF_female=0.1554;AF_raw=0.1528;AF_afr=0.2363;AF_sas=.;AF_amr=0.0649;AF_eas=0.0096;AF_nfe=0.1284;AF_fin=0.1493;AF_asj=0.1;AF_oth=0.1238;non_topmed_AF_popmax=0.2361;non_neuro_AF_popmax=0.2356;non_cancer_AF_popmax=.;controls_AF_popmax=0.2373;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.1094;ExAC_nontcga_AFR=0.2342;ExAC_nontcga_AMR=0.0427;ExAC_nontcga_EAS=0.0113;ExAC_nontcga_FIN=0.1536;ExAC_nontcga_NFE=0.1095;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.1140;AF=0.1526;AF_popmax=0.2363;AF_male=0.1504;AF_female=0.1554;AF_raw=0.1528;AF_afr=0.2363;AF_sas=.;AF_amr=0.0649;AF_eas=0.0096;AF_nfe=0.1284;AF_fin=0.1493;AF_asj=0.1;AF_oth=0.1238;non_topmed_AF_popmax=0.2361;non_neuro_AF_popmax=0.2356;non_cancer_AF_popmax=.;controls_AF_popmax=0.2373;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32407495 rs542279061 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18458;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542279061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0010;AF_male=0.0004;AF_female=0.0009;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.909511;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32408892 rs117594057 A G 100 PASS AC=3;AF=0.00758786;AN=214;NS=2504;DP=18938;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0179;SAS_AF=0.0082;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117594057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0103;AF_popmax=0.0147;AF_male=0.0108;AF_female=0.0096;AF_raw=0.0102;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0184;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0146;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0019405;Kaviar_AC=300;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.448154;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32408900 rs9946576 T C 100 PASS AC=63;AF=0.229633;AN=214;NS=2504;DP=18892;EAS_AF=0.0446;AMR_AF=0.1614;AFR_AF=0.3555;EUR_AF=0.2664;SAS_AF=0.2607;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9946576;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2710;AF_popmax=0.3509;AF_male=0.2702;AF_female=0.2720;AF_raw=0.2712;AF_afr=0.3509;AF_sas=.;AF_amr=0.1501;AF_eas=0.0404;AF_nfe=0.2631;AF_fin=0.2480;AF_asj=0.2448;AF_oth=0.2486;non_topmed_AF_popmax=0.3520;non_neuro_AF_popmax=0.3534;non_cancer_AF_popmax=.;controls_AF_popmax=0.3511;Kaviar_AF=0.0092208;Kaviar_AC=240;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.448154;ALLELE_END GT 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 +18 32408968 rs200190237 C A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18539;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200190237;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0021;AF=0.0013;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0020;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013389;Kaviar_AC=207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.654894;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418186 rs17557695 T A 100 PASS AC=63;AF=0.204073;AN=214;NS=2504;DP=19635;EAS_AF=0.0446;AMR_AF=0.1499;AFR_AF=0.2648;EUR_AF=0.2664;SAS_AF=0.2607;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.204073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17557695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2615;ExAC_nontcga_ALL=0.2313;ExAC_nontcga_AFR=0.2756;ExAC_nontcga_AMR=0.1068;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.2624;ExAC_nontcga_NFE=0.2568;ExAC_nontcga_OTH=0.2697;ExAC_nontcga_SAS=0.2783;AF=0.2490;AF_popmax=0.2726;AF_male=0.2482;AF_female=0.2501;AF_raw=0.2488;AF_afr=0.2726;AF_sas=.;AF_amr=0.1454;AF_eas=0.0404;AF_nfe=0.2630;AF_fin=0.2484;AF_asj=0.2448;AF_oth=0.2449;non_topmed_AF_popmax=0.2735;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2715;Kaviar_AF=0.224053;Kaviar_AC=34639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1590898|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501621;ALLELE_END GT 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 +18 32418189 rs73949007 A G 100 PASS AC=2;AF=0.0361422;AN=214;NS=2504;DP=19618;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1324;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73949007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0283;AF_popmax=0.0994;AF_male=0.0293;AF_female=0.0270;AF_raw=0.0282;AF_afr=0.0994;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0994;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.0991;Kaviar_AF=0.001824;Kaviar_AC=282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1590898|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501621;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418634 rs1941753 T A 100 PASS AC=20;AF=0.0553115;AN=214;NS=2504;DP=20915;EAS_AF=0.0129;AMR_AF=0.0562;AFR_AF=0.0242;EUR_AF=0.0924;SAS_AF=0.1022;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0553115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1941753;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0998;AF_popmax=0.1276;AF_male=0.0952;AF_female=0.1055;AF_raw=0.0999;AF_afr=0.0496;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.1276;AF_fin=0.1490;AF_asj=0.1;AF_oth=0.1142;non_topmed_AF_popmax=0.1318;non_neuro_AF_popmax=0.1278;non_cancer_AF_popmax=.;controls_AF_popmax=0.1471;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578210;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418771 rs186573363 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20579;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198942:exon6:c.A362C:p.Y121S,DTNA:NM_001390:exon12:c.A1235C:p.Y412S,DTNA:NM_001391:exon12:c.A1235C:p.Y412S,DTNA:NM_032978:exon12:c.A1226C:p.Y409S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186573363;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.119;SIFT_converted_rankscore=0.912;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.27;MutationAssessor_score_rankscore=0.647;MutationAssessor_pred=M;FATHMM_score=1.57;FATHMM_converted_rankscore=0.344;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.941;VEST3_rankscore=0.939;MetaSVM_score=-0.698;MetaSVM_rankscore=0.606;MetaSVM_pred=T;MetaLR_score=0.217;MetaLR_rankscore=0.580;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.223;CADD_raw_rankscore=0.328;CADD_phred=17.66;DANN_score=0.990;DANN_rankscore=0.504;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.835;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.801;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=8.444;phyloP100way_vertebrate_rankscore=0.901;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.978;SiPhy_29way_logOdds_rankscore=0.708;Interpro_domain=EF-hand_domain_pair|EF-hand_domain,_type_1;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.652691;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32444040 rs1617318 G A 100 PASS AC=77;AF=0.29373;AN=214;NS=2504;DP=16689;EAS_AF=0.0466;AMR_AF=0.2233;AFR_AF=0.5212;EUR_AF=0.3439;SAS_AF=0.2393;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.29373;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1617318;CLNALLELEID=55581;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3304;ExAC_nontcga_ALL=0.3587;ExAC_nontcga_AFR=0.5467;ExAC_nontcga_AMR=0.1991;ExAC_nontcga_EAS=0.0651;ExAC_nontcga_FIN=0.4342;ExAC_nontcga_NFE=0.4047;ExAC_nontcga_OTH=0.4134;ExAC_nontcga_SAS=0.3032;AF=0.3754;AF_popmax=0.5085;AF_male=0.3737;AF_female=0.3776;AF_raw=0.3759;AF_afr=0.5085;AF_sas=.;AF_amr=0.2028;AF_eas=0.0418;AF_nfe=0.3523;AF_fin=0.3483;AF_asj=0.3241;AF_oth=0.3536;non_topmed_AF_popmax=0.5093;non_neuro_AF_popmax=0.5101;non_cancer_AF_popmax=.;controls_AF_popmax=0.5023;Kaviar_AF=0.28933;Kaviar_AC=44731;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.749129;ALLELE_END GT 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 1|1 +18 32455379 rs541157 T C 100 PASS AC=30;AF=0.128195;AN=214;NS=2504;DP=18721;EAS_AF=0.0129;AMR_AF=0.0663;AFR_AF=0.27;EUR_AF=0.1183;SAS_AF=0.1094;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.128195;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541157;CLNALLELEID=140881;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1264;ExAC_nontcga_ALL=0.1231;ExAC_nontcga_AFR=0.2714;ExAC_nontcga_AMR=0.0535;ExAC_nontcga_EAS=0.0116;ExAC_nontcga_FIN=0.1633;ExAC_nontcga_NFE=0.1214;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.1309;AF=0.1689;AF_popmax=0.2658;AF_male=0.1673;AF_female=0.1710;AF_raw=0.1691;AF_afr=0.2658;AF_sas=.;AF_amr=0.0755;AF_eas=0.0109;AF_nfe=0.1410;AF_fin=0.1542;AF_asj=0.1310;AF_oth=0.1461;non_topmed_AF_popmax=0.2663;non_neuro_AF_popmax=0.2611;non_cancer_AF_popmax=.;controls_AF_popmax=0.2580;Kaviar_AF=0.121732;Kaviar_AC=18820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000572779|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.035438;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 +18 32459584 rs201829681 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16550;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon10:c.C1052G:p.P351R,DTNA:NM_001198944:exon11:c.C938G:p.P313R,DTNA:NM_032980:exon11:c.C926G:p.P309R,DTNA:NM_001198942:exon13:c.C1109G:p.P370R,DTNA:NM_001198938:exon18:c.C1802G:p.P601R,DTNA:NM_001198940:exon18:c.C1802G:p.P601R,DTNA:NM_001198939:exon19:c.C1823G:p.P608R,DTNA:NM_001390:exon19:c.C1982G:p.P661R,DTNA:NM_032975:exon19:c.C1811G:p.P604R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201829681;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.432;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=2.31;FATHMM_converted_rankscore=0.173;FATHMM_pred=T;PROVEAN_score=-1.26;PROVEAN_converted_rankscore=0.318;PROVEAN_pred=N;VEST3_score=0.829;VEST3_rankscore=0.832;MetaSVM_score=-1.093;MetaSVM_rankscore=0.051;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.269;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.217;M-CAP_pred=T;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.167;CADD_raw_rankscore=0.440;CADD_phred=22.7;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.887;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.266;Eigen-PC-raw=0.378;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.693;integrated_fitCons_score_rankscore=0.558;integrated_confidence_value=0;GERP++_RS=5.22;GERP++_RS_rankscore=0.722;phyloP100way_vertebrate=6.362;phyloP100way_vertebrate_rankscore=0.728;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=17.390;SiPhy_29way_logOdds_rankscore=0.873;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609253;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32459697 rs76713874 G A 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19775;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0179;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76713874;CLNALLELEID=44692;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0105;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0166;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0017;AF=0.0126;AF_popmax=0.0189;AF_male=0.0133;AF_female=0.0118;AF_raw=0.0126;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0189;AF_fin=0.0210;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0208;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0275;Kaviar_AF=0.0074255;Kaviar_AC=1148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.677582;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32459704 rs2288085 A G 100 PASS AC=53;AF=0.262181;AN=214;NS=2504;DP=19838;EAS_AF=0.0625;AMR_AF=0.2493;AFR_AF=0.4864;EUR_AF=0.2425;SAS_AF=0.1943;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.262181;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2241;ExAC_nontcga_ALL=0.2247;ExAC_nontcga_AFR=0.4670;ExAC_nontcga_AMR=0.2048;ExAC_nontcga_EAS=0.0746;ExAC_nontcga_FIN=0.1886;ExAC_nontcga_NFE=0.2213;ExAC_nontcga_OTH=0.2067;ExAC_nontcga_SAS=0.2010;AF=0.2732;AF_popmax=0.4683;AF_male=0.2770;AF_female=0.2684;AF_raw=0.2733;AF_afr=0.4683;AF_sas=.;AF_amr=0.2276;AF_eas=0.0648;AF_nfe=0.2115;AF_fin=0.1843;AF_asj=0.2138;AF_oth=0.2228;non_topmed_AF_popmax=0.4678;non_neuro_AF_popmax=0.4763;non_cancer_AF_popmax=.;controls_AF_popmax=0.4685;Kaviar_AF=0.221679;Kaviar_AC=34272;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.039333;ALLELE_END GT 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 0|1 +18 32470291 rs9944927 G A 100 PASS AC=48;AF=0.266973;AN=214;NS=2504;DP=20934;EAS_AF=0.0139;AMR_AF=0.1873;AFR_AF=0.5946;EUR_AF=0.2187;SAS_AF=0.1912;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198938:exon20:c.G2062A:p.E688K;1000g2015aug_all=0.266973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9944927;CLNALLELEID=140884;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.2;FATHMM_converted_rankscore=0.186;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.442;CADD_raw_rankscore=0.355;CADD_phred=19.09;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.198;fathmm-MKL_coding_rankscore=0.206;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.467;Eigen-PC-raw=0.078;GenoCanyon_score=0.988;GenoCanyon_score_rankscore=0.312;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.71;GERP++_RS_rankscore=0.589;phyloP100way_vertebrate=1.979;phyloP100way_vertebrate_rankscore=0.400;phyloP20way_mammalian=0.244;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.417;SiPhy_29way_logOdds_rankscore=0.208;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2347;ExAC_nontcga_AFR=0.564;ExAC_nontcga_AMR=0.2778;ExAC_nontcga_EAS=0.0282;ExAC_nontcga_FIN=0.5;ExAC_nontcga_NFE=0.2558;ExAC_nontcga_OTH=0.1864;ExAC_nontcga_SAS=0.2201;AF=0.2938;AF_popmax=0.5770;AF_male=0.2989;AF_female=0.2874;AF_raw=0.2941;AF_afr=0.5770;AF_sas=.;AF_amr=0.1403;AF_eas=0.0090;AF_nfe=0.1985;AF_fin=0.1881;AF_asj=0.2812;AF_oth=0.2477;non_topmed_AF_popmax=0.5778;non_neuro_AF_popmax=0.5787;non_cancer_AF_popmax=.;controls_AF_popmax=0.5740;Kaviar_AF=0.0590484;Kaviar_AC=9129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.706037;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 1|1 +18 32470459 rs7227051 C T 100 PASS AC=45;AF=0.155551;AN=214;NS=2504;DP=21810;EAS_AF=0.0099;AMR_AF=0.1542;AFR_AF=0.2118;EUR_AF=0.2127;SAS_AF=0.1718;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DTNA;GeneDetail.refGene=NM_032975:c.*2761C>T\x3bNM_001198938:c.*55C>T\x3bNM_001198939:c.*2761C>T\x3bNM_001198940:c.*2761C>T\x3bNM_001390:c.*2761C>T\x3bNM_001198943:c.*2761C>T\x3bNM_001198944:c.*2761C>T\x3bNM_001198942:c.*2761C>T\x3bNM_032980:c.*2761C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7227051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1914;AF_popmax=0.2262;AF_male=0.1953;AF_female=0.1865;AF_raw=0.1917;AF_afr=0.2262;AF_sas=.;AF_amr=0.1265;AF_eas=0.0077;AF_nfe=0.1925;AF_fin=0.1865;AF_asj=0.2361;AF_oth=0.2149;non_topmed_AF_popmax=0.2266;non_neuro_AF_popmax=0.2336;non_cancer_AF_popmax=.;controls_AF_popmax=0.2305;Kaviar_AF=0.0304136;Kaviar_AC=4702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.999299;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 1|1 +18 33935432 rs533467709 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=24367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533467709;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +18 33952806 rs137891314 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23936;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137891314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.369e-05;AF_popmax=6.482e-05;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34081849 rs17565834 A G 100 PASS AC=77;AF=0.225439;AN=214;NS=2504;DP=16409;EAS_AF=0.0446;AMR_AF=0.2666;AFR_AF=0.2141;EUR_AF=0.4165;SAS_AF=0.2014;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.225439;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17565834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4057;ExAC_nontcga_ALL=0.3207;ExAC_nontcga_AFR=0.2631;ExAC_nontcga_AMR=0.1961;ExAC_nontcga_EAS=0.0548;ExAC_nontcga_FIN=0.4421;ExAC_nontcga_NFE=0.4256;ExAC_nontcga_OTH=0.3636;ExAC_nontcga_SAS=0.2698;AF=0.3564;AF_popmax=0.4393;AF_male=0.3544;AF_female=0.3588;AF_raw=0.3565;AF_afr=0.2424;AF_sas=.;AF_amr=0.2618;AF_eas=0.0443;AF_nfe=0.4393;AF_fin=0.4326;AF_asj=0.2759;AF_oth=0.3921;non_topmed_AF_popmax=0.4427;non_neuro_AF_popmax=0.4397;non_cancer_AF_popmax=.;controls_AF_popmax=0.4612;Kaviar_AF=0.267855;Kaviar_AC=41411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 1|0 1|0 0|1 0|1 1|0 1|1 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|1 +18 34092327 rs12454451 G C 100 PASS AC=15;AF=0.0934505;AN=214;NS=2504;DP=21021;EAS_AF=0.0427;AMR_AF=0.1787;AFR_AF=0.0008;EUR_AF=0.0706;SAS_AF=0.2342;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12454451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0529;AF_popmax=0.2217;AF_male=0.0548;AF_female=0.0506;AF_raw=0.0530;AF_afr=0.0186;AF_sas=.;AF_amr=0.2217;AF_eas=0.0494;AF_nfe=0.0653;AF_fin=0.0414;AF_asj=0.0414;AF_oth=0.0662;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.1877;non_cancer_AF_popmax=.;controls_AF_popmax=0.1911;Kaviar_AF=0.0167462;Kaviar_AC=2589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34156497 rs61735987 A G 100 PASS AC=1;AF=0.0660942;AN=214;NS=2504;DP=16900;EAS_AF=0.1567;AMR_AF=0.0072;AFR_AF=0.0113;EUR_AF=0.002;SAS_AF=0.1544;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon6:c.A595G:p.I199V,FHOD3:NM_001281740:exon6:c.A595G:p.I199V,FHOD3:NM_025135:exon6:c.A595G:p.I199V;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.31;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.214;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.337;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.065;MutationAssessor_score_rankscore=0.048;MutationAssessor_pred=N;FATHMM_score=2.2;FATHMM_converted_rankscore=0.186;FATHMM_pred=T;PROVEAN_score=-0.15;PROVEAN_converted_rankscore=0.093;PROVEAN_pred=N;VEST3_score=0.067;VEST3_rankscore=0.055;MetaSVM_score=-0.971;MetaSVM_rankscore=0.371;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.448;CADD_raw_rankscore=0.137;CADD_phred=7.022;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.699;fathmm-MKL_coding_rankscore=0.341;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.608;Eigen-PC-raw=-0.447;GenoCanyon_score=0.801;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.693;integrated_fitCons_score_rankscore=0.558;integrated_confidence_value=0;GERP++_RS=0.728;GERP++_RS_rankscore=0.173;phyloP100way_vertebrate=4.209;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=-0.200;phyloP20way_mammalian_rankscore=0.102;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.970;phastCons20way_mammalian_rankscore=0.461;SiPhy_29way_logOdds=8.472;SiPhy_29way_logOdds_rankscore=0.320;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold|Rho_GTPase-binding/formin_homology_3_(GBD/FH3)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0348;ExAC_nontcga_AFR=0.0220;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0.1434;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.1203;AF=0.0165;AF_popmax=0.1497;AF_male=0.0180;AF_female=0.0147;AF_raw=0.0166;AF_afr=0.0199;AF_sas=.;AF_amr=0.0059;AF_eas=0.1497;AF_nfe=0.0051;AF_fin=0.0023;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.1476;non_neuro_AF_popmax=0.1497;non_cancer_AF_popmax=.;controls_AF_popmax=0.1305;Kaviar_AF=0.0300449;Kaviar_AC=4645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34182800 rs34287129 A G 100 PASS AC=73;AF=0.257188;AN=214;NS=2504;DP=22270;EAS_AF=0.372;AMR_AF=0.3948;AFR_AF=0.0809;EUR_AF=0.3201;SAS_AF=0.2147;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34287129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2411;AF_popmax=0.3471;AF_male=0.2428;AF_female=0.2389;AF_raw=0.2416;AF_afr=0.1060;AF_sas=.;AF_amr=0.3420;AF_eas=0.3471;AF_nfe=0.3024;AF_fin=0.2196;AF_asj=0.2569;AF_oth=0.2906;non_topmed_AF_popmax=0.3512;non_neuro_AF_popmax=0.3471;non_cancer_AF_popmax=.;controls_AF_popmax=0.3764;Kaviar_AF=0.0562606;Kaviar_AC=8698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 +18 34191954 rs200811037 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon9:c.G853A:p.V285I,FHOD3:NM_001281740:exon9:c.G853A:p.V285I,FHOD3:NM_025135:exon9:c.G853A:p.V285I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200811037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.176;SIFT_converted_rankscore=0.240;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.250;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.912;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.115;MutationAssessor_score_rankscore=0.288;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_converted_rankscore=0.202;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.174;MetaSVM_score=-0.720;MetaSVM_rankscore=0.595;MetaSVM_pred=T;MetaLR_score=0.222;MetaLR_rankscore=0.585;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.432;M-CAP_pred=T;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.056;CADD_raw_rankscore=0.427;CADD_phred=22.4;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.879;fathmm-MKL_coding_rankscore=0.474;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.254;Eigen-PC-raw=-0.045;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.356;integrated_fitCons_score=0.626;integrated_fitCons_score_rankscore=0.397;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=3.683;phyloP100way_vertebrate_rankscore=0.541;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.267;phastCons20way_mammalian_rankscore=0.231;SiPhy_29way_logOdds=9.785;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold|Rho_GTPase-binding/formin_homology_3_(GBD/FH3)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.888e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34205415 rs59051454 T C 100 PASS AC=30;AF=0.128195;AN=214;NS=2504;DP=18188;EAS_AF=0.002;AMR_AF=0.1153;AFR_AF=0.2806;EUR_AF=0.1581;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.128195;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59051454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1577;AF_popmax=0.2259;AF_male=0.1571;AF_female=0.1584;AF_raw=0.1578;AF_afr=0.2259;AF_sas=.;AF_amr=0.0814;AF_eas=0.0026;AF_nfe=0.1407;AF_fin=0.1655;AF_asj=0.0828;AF_oth=0.1305;non_topmed_AF_popmax=0.2269;non_neuro_AF_popmax=0.2220;non_cancer_AF_popmax=.;controls_AF_popmax=0.2288;Kaviar_AF=0.0266491;Kaviar_AC=4120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34205551 rs60414347 C T 100 PASS AC=14;AF=0.0872604;AN=214;NS=2504;DP=14879;EAS_AF=0.2262;AMR_AF=0.0331;AFR_AF=0.0651;EUR_AF=0.0447;SAS_AF=0.0562;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.C1035T:p.S345S,FHOD3:NM_001281740:exon10:c.C1035T:p.S345S,FHOD3:NM_025135:exon10:c.C1035T:p.S345S;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60414347;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.410;CADD_raw_rankscore=0.351;CADD_phred=18.89;DANN_score=0.862;DANN_rankscore=0.158;fathmm-MKL_coding_score=0.312;fathmm-MKL_coding_rankscore=0.241;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.077;Eigen-PC-raw=-0.005;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.324;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=0.938;GERP++_RS_rankscore=0.185;phyloP100way_vertebrate=-0.338;phyloP100way_vertebrate_rankscore=0.078;phyloP20way_mammalian=-0.343;phyloP20way_mammalian_rankscore=0.071;phastCons100way_vertebrate=0.241;phastCons100way_vertebrate_rankscore=0.245;phastCons20way_mammalian=0.962;phastCons20way_mammalian_rankscore=0.444;SiPhy_29way_logOdds=9.548;SiPhy_29way_logOdds_rankscore=0.383;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0604;ExAC_nontcga_ALL=0.0663;ExAC_nontcga_AFR=0.0830;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.2116;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0596;ExAC_nontcga_OTH=0.0450;ExAC_nontcga_SAS=0.0567;AF=0.0669;AF_popmax=0.2449;AF_male=0.0713;AF_female=0.0615;AF_raw=0.0670;AF_afr=0.0807;AF_sas=.;AF_amr=0.0259;AF_eas=0.2449;AF_nfe=0.0556;AF_fin=0.0187;AF_asj=0.0799;AF_oth=0.0451;non_topmed_AF_popmax=0.2424;non_neuro_AF_popmax=0.2449;non_cancer_AF_popmax=.;controls_AF_popmax=0.2473;Kaviar_AF=0.0643135;Kaviar_AC=9943;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.820949;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232543 rs62083981 G A 100 PASS AC=7;AF=0.0165735;AN=214;NS=2504;DP=18593;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0298;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1297A:p.A433T;1000g2015aug_all=0.0165735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62083981;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.58;FATHMM_converted_rankscore=0.291;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.091;CADD_raw_rankscore=0.085;CADD_phred=1.795;DANN_score=0.649;DANN_rankscore=0.074;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.129;Eigen-PC-raw=-0.152;GenoCanyon_score=0.111;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.197;GERP++_RS_rankscore=0.144;phyloP100way_vertebrate=-0.000;phyloP100way_vertebrate_rankscore=0.128;phyloP20way_mammalian=-1.170;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.929;SiPhy_29way_logOdds_rankscore=0.087;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0408;ExAC_nontcga_SAS=0.0352;AF=0.0238;AF_popmax=0.0255;AF_male=0.0231;AF_female=0.0247;AF_raw=0.0239;AF_afr=0.0197;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0255;AF_fin=0.0392;AF_asj=0.0276;AF_oth=0.0249;non_topmed_AF_popmax=0.0266;non_neuro_AF_popmax=0.0257;non_cancer_AF_popmax=.;controls_AF_popmax=0.0293;Kaviar_AF=0.0063971;Kaviar_AC=989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232610 rs2848901 C T 100 PASS AC=57;AF=0.319489;AN=214;NS=2504;DP=16924;EAS_AF=0.1825;AMR_AF=0.4467;AFR_AF=0.2958;EUR_AF=0.2863;SAS_AF=0.4366;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;1000g2015aug_all=0.319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2848901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_converted_rankscore=0.348;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.357;CADD_raw_rankscore=0.227;CADD_phred=12.57;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_rankscore=0.262;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.816;Eigen-PC-raw=-0.043;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=2.557;phyloP100way_vertebrate_rankscore=0.453;phyloP20way_mammalian=0.826;phyloP20way_mammalian_rankscore=0.337;phastCons100way_vertebrate=0.293;phastCons100way_vertebrate_rankscore=0.250;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=15.833;SiPhy_29way_logOdds_rankscore=0.785;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3922;ExAC_nontcga_AFR=0.3333;ExAC_nontcga_AMR=0.5069;ExAC_nontcga_EAS=0.1690;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.3151;ExAC_nontcga_OTH=0.2966;ExAC_nontcga_SAS=0.4251;AF=0.2702;AF_popmax=0.4717;AF_male=0.2712;AF_female=0.2689;AF_raw=0.2703;AF_afr=0.2814;AF_sas=.;AF_amr=0.4717;AF_eas=0.1695;AF_nfe=0.2828;AF_fin=0.1839;AF_asj=0.2586;AF_oth=0.2689;non_topmed_AF_popmax=0.4753;non_neuro_AF_popmax=0.4675;non_cancer_AF_popmax=.;controls_AF_popmax=0.4634;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.32197::-0.216564;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34232657 rs72895597 G A 100 PASS AC=38;AF=0.0702875;AN=214;NS=2504;DP=16173;EAS_AF=0.002;AMR_AF=0.111;AFR_AF=0.0091;EUR_AF=0.2028;SAS_AF=0.0583;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1411A:p.G471R;1000g2015aug_all=0.0702875;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72895597;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.55;FATHMM_converted_rankscore=0.299;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.089;CADD_raw_rankscore=0.085;CADD_phred=1.816;DANN_score=0.424;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.073;Eigen-PC-raw=-0.164;GenoCanyon_score=0.114;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-0.555;GERP++_RS_rankscore=0.112;phyloP100way_vertebrate=0.399;phyloP100way_vertebrate_rankscore=0.205;phyloP20way_mammalian=-3.821;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=0.637;SiPhy_29way_logOdds_rankscore=0.007;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0988;ExAC_nontcga_AFR=0.0238;ExAC_nontcga_AMR=0.0764;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.3333;ExAC_nontcga_NFE=0.1381;ExAC_nontcga_OTH=0.1525;ExAC_nontcga_SAS=0.0886;AF=0.1289;AF_popmax=0.1714;AF_male=0.1259;AF_female=0.1326;AF_raw=0.1293;AF_afr=0.0377;AF_sas=.;AF_amr=0.0802;AF_eas=0.0026;AF_nfe=0.1714;AF_fin=0.2311;AF_asj=0.1207;AF_oth=0.1524;non_topmed_AF_popmax=0.1689;non_neuro_AF_popmax=0.1701;non_cancer_AF_popmax=.;controls_AF_popmax=0.1619;Kaviar_AF=0.0329427;Kaviar_AC=5093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232952 rs1893433 T C 100 PASS AC=56;AF=0.3125;AN=214;NS=2504;DP=19028;EAS_AF=0.1835;AMR_AF=0.4452;AFR_AF=0.2663;EUR_AF=0.2833;SAS_AF=0.4438;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893433;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2650;AF_popmax=0.4716;AF_male=0.2652;AF_female=0.2647;AF_raw=0.2652;AF_afr=0.2646;AF_sas=.;AF_amr=0.4716;AF_eas=0.1761;AF_nfe=0.2815;AF_fin=0.1816;AF_asj=0.2552;AF_oth=0.2703;non_topmed_AF_popmax=0.4752;non_neuro_AF_popmax=0.4638;non_cancer_AF_popmax=.;controls_AF_popmax=0.4553;Kaviar_AF=0.302021;Kaviar_AC=7861;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.320076::-0.21623;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34233231 rs1893434 C T 100 PASS AC=103;AF=0.571086;AN=214;NS=2504;DP=19417;EAS_AF=0.4256;AMR_AF=0.6066;AFR_AF=0.7247;EUR_AF=0.5139;SAS_AF=0.547;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5447;AF_popmax=0.6986;AF_male=0.5510;AF_female=0.5367;AF_raw=0.5445;AF_afr=0.6986;AF_sas=.;AF_amr=0.5829;AF_eas=0.4299;AF_nfe=0.4989;AF_fin=0.4329;AF_asj=0.4621;AF_oth=0.4760;non_topmed_AF_popmax=0.6998;non_neuro_AF_popmax=0.7037;non_cancer_AF_popmax=.;controls_AF_popmax=0.7016;Kaviar_AF=0.524474;Kaviar_AC=13651;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859776|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 1|0 0|1 0|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 1|1 1|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34233356 rs139122756 C G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=19416;EAS_AF=0;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon13:c.C1698G:p.H566Q;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139122756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.66;FATHMM_converted_rankscore=0.275;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.577;CADD_raw_rankscore=0.371;CADD_phred=19.96;DANN_score=0.693;DANN_rankscore=0.087;fathmm-MKL_coding_score=0.761;fathmm-MKL_coding_rankscore=0.370;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.442;Eigen-PC-raw=0.059;GenoCanyon_score=0.243;GenoCanyon_score_rankscore=0.186;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.53;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=0.757;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.871;phastCons20way_mammalian_rankscore=0.364;SiPhy_29way_logOdds=3.659;SiPhy_29way_logOdds_rankscore=0.077;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0010;AF_popmax=0.0034;AF_male=0.0011;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0034;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0023;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859776|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34238093 rs199885700 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15618;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon11:c.A1252C:p.S418R,FHOD3:NM_025135:exon11:c.A1252C:p.S418R,FHOD3:NM_001281740:exon14:c.A1777C:p.S593R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199885700;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.317;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_rankscore=0.270;Polyphen2_HVAR_pred=B;LRT_score=0.877;LRT_converted_rankscore=0.088;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=N;MutationAssessor_score=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=1.95;FATHMM_converted_rankscore=0.225;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.315;VEST3_rankscore=0.466;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.215;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.225;M-CAP_pred=T;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=0.237;MutPred_rankscore=0.168;CADD_raw=1.407;CADD_raw_rankscore=0.232;CADD_phred=12.83;DANN_score=0.991;DANN_rankscore=0.524;fathmm-MKL_coding_score=0.141;fathmm-MKL_coding_rankscore=0.180;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.568;Eigen-PC-raw=-0.603;GenoCanyon_score=0.764;GenoCanyon_score_rankscore=0.235;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.245;GERP++_RS_rankscore=0.147;phyloP100way_vertebrate=0.756;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=0.297;phastCons100way_vertebrate_rankscore=0.251;phastCons20way_mammalian=0.030;phastCons20way_mammalian_rankscore=0.147;SiPhy_29way_logOdds=8.127;SiPhy_29way_logOdds_rankscore=0.300;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34238217 rs146873252 G A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=17796;EAS_AF=0;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146873252;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0033;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0033;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0023;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34261559 rs542241 T A 100 PASS AC=100;AF=0.460264;AN=214;NS=2504;DP=19416;EAS_AF=0.6438;AMR_AF=0.4035;AFR_AF=0.3737;EUR_AF=0.4493;SAS_AF=0.4397;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.460264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4265;ExAC_nontcga_ALL=0.4876;ExAC_nontcga_AFR=0.4146;ExAC_nontcga_AMR=0.4054;ExAC_nontcga_EAS=0.6635;ExAC_nontcga_FIN=0.5268;ExAC_nontcga_NFE=0.5024;ExAC_nontcga_OTH=0.4388;ExAC_nontcga_SAS=0.4426;AF=0.4848;AF_popmax=0.6340;AF_male=0.4822;AF_female=0.4880;AF_raw=0.4707;AF_afr=0.4331;AF_sas=.;AF_amr=0.4083;AF_eas=0.6340;AF_nfe=0.4880;AF_fin=0.5280;AF_asj=0.5880;AF_oth=0.5104;non_topmed_AF_popmax=0.6375;non_neuro_AF_popmax=0.6340;non_cancer_AF_popmax=.;controls_AF_popmax=0.6494;Kaviar_AF=0.449315;Kaviar_AC=69465;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.467181::0.205223;Heart_Left_Ventricle=Heart_Left_Ventricle::0.473783::0.20155;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 +18 34261581 rs34100890 AG A 100 PASS AC=145;AF=0.63099;AN=214;NS=2504;DP=19413;EAS_AF=0.6448;AMR_AF=0.5303;AFR_AF=0.7436;EUR_AF=0.661;SAS_AF=0.5051;AA=G|GG|G|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.63099;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34100890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6421;ExAC_nontcga_ALL=0.6264;ExAC_nontcga_AFR=0.7215;ExAC_nontcga_AMR=0.4697;ExAC_nontcga_EAS=0.6462;ExAC_nontcga_FIN=0.7174;ExAC_nontcga_NFE=0.6622;ExAC_nontcga_OTH=0.6168;ExAC_nontcga_SAS=0.5261;AF=0.6783;AF_popmax=0.7325;AF_male=0.6769;AF_female=0.6800;AF_raw=0.6787;AF_afr=0.7325;AF_sas=.;AF_amr=0.5083;AF_eas=0.6319;AF_nfe=0.6529;AF_fin=0.7177;AF_asj=0.7083;AF_oth=0.6673;non_topmed_AF_popmax=0.7329;non_neuro_AF_popmax=0.7365;non_cancer_AF_popmax=.;controls_AF_popmax=0.7383;Kaviar_AF=0.0184344;Kaviar_AC=2850;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 0|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 +18 34273111 rs74480696 C G 100 PASS AC=12;AF=0.0107827;AN=214;NS=2504;DP=19144;EAS_AF=0.001;AMR_AF=0.0216;AFR_AF=0;EUR_AF=0.0308;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74480696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0233;AF_popmax=0.0340;AF_male=0.0239;AF_female=0.0225;AF_raw=0.0233;AF_afr=0.0063;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0340;AF_fin=0.0245;AF_asj=0.0315;AF_oth=0.0313;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0338;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0045989;Kaviar_AC=711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.211657;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34273149 rs141536967 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141536967;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0108;ExAC_nontcga_SAS=0.0007;AF=0.0011;AF_popmax=0.0059;AF_male=0.0010;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0013389;Kaviar_AC=207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.127833;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34273279 rs61735993 C G 100 PASS AC=44;AF=0.0902556;AN=214;NS=2504;DP=16667;EAS_AF=0.001;AMR_AF=0.1196;AFR_AF=0.0635;EUR_AF=0.2187;SAS_AF=0.0654;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1553G:p.A518G,FHOD3:NM_025135:exon14:c.C1604G:p.A535G,FHOD3:NM_001281740:exon17:c.C2129G:p.A710G;1000g2015aug_all=0.0902556;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.408;SIFT_pred=T;Polyphen2_HDIV_score=0.705;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_rankscore=0.706;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.322;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.34;MutationAssessor_score_rankscore=0.674;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_converted_rankscore=0.213;FATHMM_pred=T;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.028;MetaSVM_score=-1.099;MetaSVM_rankscore=0.042;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.318;CADD_raw_rankscore=0.223;CADD_phred=12.36;DANN_score=0.995;DANN_rankscore=0.678;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.589;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.265;Eigen-PC-raw=0.260;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=5.337;phyloP100way_vertebrate_rankscore=0.655;phyloP20way_mammalian=0.883;phyloP20way_mammalian_rankscore=0.387;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.073;phastCons20way_mammalian_rankscore=0.177;SiPhy_29way_logOdds=11.351;SiPhy_29way_logOdds_rankscore=0.486;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Brain_Frontal_Cortex_BA9;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1810;ExAC_nontcga_ALL=0.1332;ExAC_nontcga_AFR=0.0665;ExAC_nontcga_AMR=0.0715;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.2008;ExAC_nontcga_NFE=0.1792;ExAC_nontcga_OTH=0.1877;ExAC_nontcga_SAS=0.0938;AF=0.1387;AF_popmax=0.1758;AF_male=0.1371;AF_female=0.1408;AF_raw=0.1388;AF_afr=0.0765;AF_sas=.;AF_amr=0.0943;AF_eas=0;AF_nfe=0.1758;AF_fin=0.1978;AF_asj=0.1345;AF_oth=0.1577;non_topmed_AF_popmax=0.1699;non_neuro_AF_popmax=0.1749;non_cancer_AF_popmax=.;controls_AF_popmax=0.1591;Kaviar_AF=0.136745;Kaviar_AC=21141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34273440 rs483351 C T 100 PASS AC=103;AF=0.476238;AN=214;NS=2504;DP=18111;EAS_AF=0.6488;AMR_AF=0.402;AFR_AF=0.4206;EUR_AF=0.4602;SAS_AF=0.4427;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs483351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4851;AF_popmax=0.6544;AF_male=0.4834;AF_female=0.4873;AF_raw=0.4848;AF_afr=0.4365;AF_sas=.;AF_amr=0.4092;AF_eas=0.6544;AF_nfe=0.4874;AF_fin=0.5262;AF_asj=0.5828;AF_oth=0.5009;non_topmed_AF_popmax=0.6583;non_neuro_AF_popmax=0.6544;non_cancer_AF_popmax=.;controls_AF_popmax=0.6608;Kaviar_AF=0.0927543;Kaviar_AC=14340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 +18 34289142 rs61735994 A G 100 PASS AC=11;AF=0.014976;AN=214;NS=2504;DP=14614;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.003;EUR_AF=0.0368;SAS_AF=0.0215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.A1745G:p.Q582R,FHOD3:NM_025135:exon15:c.A1796G:p.Q599R,FHOD3:NM_001281740:exon18:c.A2321G:p.Q774R;1000g2015aug_all=0.014976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_converted_rankscore=0.049;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=1.51;FATHMM_converted_rankscore=0.312;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_converted_rankscore=0.307;PROVEAN_pred=N;VEST3_score=0.011;VEST3_rankscore=0.001;MetaSVM_score=-1.034;MetaSVM_rankscore=0.193;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.504;CADD_raw_rankscore=0.017;CADD_phred=0.003;DANN_score=0.379;DANN_rankscore=0.025;fathmm-MKL_coding_score=0.196;fathmm-MKL_coding_rankscore=0.205;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.382;Eigen-PC-raw=-1.441;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=-8.78;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=0.099;phyloP100way_vertebrate_rankscore=0.149;phyloP20way_mammalian=0.109;phyloP20way_mammalian_rankscore=0.204;phastCons100way_vertebrate=0.219;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.180;phastCons20way_mammalian_rankscore=0.213;SiPhy_29way_logOdds=8.720;SiPhy_29way_logOdds_rankscore=0.334;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10;GTEx_V6p_tissue=Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0335;ExAC_nontcga_ALL=0.0282;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0167;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0256;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0268;AF=0.0227;AF_popmax=0.0325;AF_male=0.0221;AF_female=0.0236;AF_raw=0.0228;AF_afr=0.0069;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0325;AF_fin=0.0248;AF_asj=0.0517;AF_oth=0.0341;non_topmed_AF_popmax=0.0313;non_neuro_AF_popmax=0.0324;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.027891;Kaviar_AC=4312;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289245 rs141915411 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20005;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.C1848T:p.N616N,FHOD3:NM_025135:exon15:c.C1899T:p.N633N,FHOD3:NM_001281740:exon18:c.C2424T:p.N808N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141915411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.843120;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289285 rs61735998 G T 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=20852;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0229;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.G1888T:p.V630F,FHOD3:NM_025135:exon15:c.G1939T:p.V647F,FHOD3:NM_001281740:exon18:c.G2464T:p.V822F;1000g2015aug_all=0.00579073;GWAS=rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521;ORegAnno_REGULATORY_P=rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521;avsnp150=rs61735998;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.107;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_rankscore=0.342;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.398;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.45;FATHMM_converted_rankscore=0.325;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.104;VEST3_rankscore=0.109;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_rankscore=0.066;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.122;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.592;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.401;Eigen-PC-raw=-0.271;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=1.65;GERP++_RS_rankscore=0.229;phyloP100way_vertebrate=2.802;phyloP100way_vertebrate_rankscore=0.474;phyloP20way_mammalian=0.130;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=4.403;SiPhy_29way_logOdds_rankscore=0.107;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0128;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0195;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0043;AF=0.0156;AF_popmax=0.0219;AF_male=0.0148;AF_female=0.0167;AF_raw=0.0156;AF_afr=0.0040;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0253;AF_asj=0;AF_oth=0.0221;non_topmed_AF_popmax=0.0216;non_neuro_AF_popmax=0.0221;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0141137;Kaviar_AC=2182;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.391942;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289364 rs11661275 G A 100 PASS AC=44;AF=0.0760783;AN=214;NS=2504;DP=19176;EAS_AF=0.001;AMR_AF=0.1138;AFR_AF=0.0136;EUR_AF=0.2177;SAS_AF=0.0654;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11661275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1782;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.0352;ExAC_nontcga_AMR=0.0694;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.2039;ExAC_nontcga_NFE=0.1808;ExAC_nontcga_OTH=0.1931;ExAC_nontcga_SAS=0.1068;AF=0.1303;AF_popmax=0.1756;AF_male=0.1283;AF_female=0.1329;AF_raw=0.1305;AF_afr=0.0457;AF_sas=.;AF_amr=0.0896;AF_eas=0;AF_nfe=0.1756;AF_fin=0.2003;AF_asj=0.1345;AF_oth=0.1608;non_topmed_AF_popmax=0.1697;non_neuro_AF_popmax=0.1745;non_cancer_AF_popmax=.;controls_AF_popmax=0.1603;Kaviar_AF=0.12721;Kaviar_AC=19667;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34297753 rs3809994 C T 100 PASS AC=70;AF=0.419329;AN=214;NS=2504;DP=20197;EAS_AF=0.4355;AMR_AF=0.4813;AFR_AF=0.3495;EUR_AF=0.3479;SAS_AF=0.5266;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3809994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3933;ExAC_nontcga_ALL=0.3996;ExAC_nontcga_AFR=0.3692;ExAC_nontcga_AMR=0.5317;ExAC_nontcga_EAS=0.4335;ExAC_nontcga_FIN=0.2951;ExAC_nontcga_NFE=0.3667;ExAC_nontcga_OTH=0.4048;ExAC_nontcga_SAS=0.5028;AF=0.3655;AF_popmax=0.5024;AF_male=0.3685;AF_female=0.3618;AF_raw=0.3660;AF_afr=0.3448;AF_sas=.;AF_amr=0.5024;AF_eas=0.4369;AF_nfe=0.3785;AF_fin=0.2925;AF_asj=0.3897;AF_oth=0.3662;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4855;non_cancer_AF_popmax=.;controls_AF_popmax=0.5041;Kaviar_AF=0.377253;Kaviar_AC=58324;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34298542 rs78740177 G A 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=13061;EAS_AF=0;AMR_AF=0;AFR_AF=0.0129;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G2705A:p.R902Q,FHOD3:NM_025135:exon16:c.G2756A:p.R919Q,FHOD3:NM_001281740:exon19:c.G3281A:p.R1094Q;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78740177;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.132;SIFT_converted_rankscore=0.265;SIFT_pred=T;Polyphen2_HDIV_score=0.795;Polyphen2_HDIV_rankscore=0.441;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_rankscore=0.315;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.11;MutationAssessor_score_rankscore=0.085;MutationAssessor_pred=N;FATHMM_score=2.28;FATHMM_converted_rankscore=0.173;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.356;VEST3_rankscore=0.417;MetaSVM_score=-1.026;MetaSVM_rankscore=0.216;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.072;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.308;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.120;Eigen-PC-raw=0.244;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.312;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.46;GERP++_RS_rankscore=0.534;phyloP100way_vertebrate=8.050;phyloP100way_vertebrate_rankscore=0.891;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=15.686;SiPhy_29way_logOdds_rankscore=0.771;Interpro_domain=Armadillo-like_helical|Formin,_FH2_domain\x3bFormin,_FH2_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0123;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0006;AF=0.0046;AF_popmax=0.0128;AF_male=0.0042;AF_female=0.0050;AF_raw=0.0046;AF_afr=0.0128;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0126;non_neuro_AF_popmax=0.0136;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.805976;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34298732 rs7240383 G C 100 PASS AC=65;AF=0.395367;AN=214;NS=2504;DP=17436;EAS_AF=0.3254;AMR_AF=0.4697;AFR_AF=0.4115;EUR_AF=0.3201;SAS_AF=0.4703;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.395367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7240383;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3517;AF_popmax=0.4847;AF_male=0.3540;AF_female=0.3488;AF_raw=0.3518;AF_afr=0.4029;AF_sas=.;AF_amr=0.4847;AF_eas=0.3103;AF_nfe=0.3393;AF_fin=0.2781;AF_asj=0.2793;AF_oth=0.3287;non_topmed_AF_popmax=0.4901;non_neuro_AF_popmax=0.4729;non_cancer_AF_popmax=.;controls_AF_popmax=0.4919;Kaviar_AF=0.068893;Kaviar_AC=10651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.382353::-0.207304;ENSEMBLReg=Name\x3dENSR00001017391|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34298737 rs551120330 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17776;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551120330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001017391|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34310668 rs3744903 C T 100 PASS AC=64;AF=0.319489;AN=214;NS=2504;DP=19189;EAS_AF=0.3194;AMR_AF=0.4452;AFR_AF=0.1505;EUR_AF=0.3161;SAS_AF=0.4622;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;1000g2015aug_all=0.319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3744903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3427;ExAC_nontcga_ALL=0.3437;ExAC_nontcga_AFR=0.1817;ExAC_nontcga_AMR=0.5035;ExAC_nontcga_EAS=0.3021;ExAC_nontcga_FIN=0.2770;ExAC_nontcga_NFE=0.3199;ExAC_nontcga_OTH=0.3718;ExAC_nontcga_SAS=0.4486;AF=0.2869;AF_popmax=0.4741;AF_male=0.2874;AF_female=0.2863;AF_raw=0.2873;AF_afr=0.1762;AF_sas=.;AF_amr=0.4741;AF_eas=0.3078;AF_nfe=0.3375;AF_fin=0.2766;AF_asj=0.2793;AF_oth=0.3177;non_topmed_AF_popmax=0.4790;non_neuro_AF_popmax=0.4603;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.21943;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34322621 rs143423311 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19601;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143423311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0007;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34322877 rs147978397 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=17521;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147978397;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0036;AF_male=0.0021;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0037;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0033;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34324091 rs2303510 G A 100 PASS AC=64;AF=0.376198;AN=214;NS=2504;DP=19762;EAS_AF=0.3204;AMR_AF=0.389;AFR_AF=0.41;EUR_AF=0.3042;SAS_AF=0.453;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;1000g2015aug_all=0.376198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.143;SIFT_converted_rankscore=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.496;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_score_rankscore=0.189;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_converted_rankscore=0.161;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.114;MetaSVM_score=-0.803;MetaSVM_rankscore=0.550;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.145;CADD_raw_rankscore=0.438;CADD_phred=22.6;DANN_score=0.998;DANN_rankscore=0.884;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.811;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.289;Eigen-PC-raw=0.426;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.505;SiPhy_29way_logOdds_rankscore=0.876;Interpro_domain=Armadillo-like_helical|Formin,_FH2_domain\x3bFormin,_FH2_domain;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3263;ExAC_nontcga_ALL=0.3433;ExAC_nontcga_AFR=0.4159;ExAC_nontcga_AMR=0.4096;ExAC_nontcga_EAS=0.3025;ExAC_nontcga_FIN=0.2648;ExAC_nontcga_NFE=0.3022;ExAC_nontcga_OTH=0.3545;ExAC_nontcga_SAS=0.4447;AF=0.3355;AF_popmax=0.3999;AF_male=0.3387;AF_female=0.3315;AF_raw=0.3354;AF_afr=0.3999;AF_sas=.;AF_amr=0.3809;AF_eas=0.3125;AF_nfe=0.3175;AF_fin=0.2686;AF_asj=0.2552;AF_oth=0.3081;non_topmed_AF_popmax=0.3999;non_neuro_AF_popmax=0.3918;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.222653;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.058529;ALLELE_END GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34324190 rs2303509 C T 100 PASS AC=63;AF=0.302117;AN=214;NS=2504;DP=17629;EAS_AF=0.3214;AMR_AF=0.3646;AFR_AF=0.1407;EUR_AF=0.3032;SAS_AF=0.455;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302117;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303509;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3251;ExAC_nontcga_ALL=0.3209;ExAC_nontcga_AFR=0.1685;ExAC_nontcga_AMR=0.3990;ExAC_nontcga_EAS=0.3018;ExAC_nontcga_FIN=0.2651;ExAC_nontcga_NFE=0.3018;ExAC_nontcga_OTH=0.3504;ExAC_nontcga_SAS=0.4476;AF=0.2697;AF_popmax=0.3720;AF_male=0.2699;AF_female=0.2695;AF_raw=0.2699;AF_afr=0.1665;AF_sas=.;AF_amr=0.3720;AF_eas=0.3131;AF_nfe=0.3168;AF_fin=0.2689;AF_asj=0.2552;AF_oth=0.2948;non_topmed_AF_popmax=0.3759;non_neuro_AF_popmax=0.3764;non_cancer_AF_popmax=.;controls_AF_popmax=0.3893;Kaviar_AF=0.313269;Kaviar_AC=48432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.34375::-0.234893;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34335047 rs192513115 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=11047;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192513115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0002;AF_popmax=0.0042;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0042;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269681|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34340773 rs374450746 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14179;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374450746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.444e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34349434 rs138272162 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20023;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138272162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0019;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16591464 rs9305079 G A 100 PASS AC=160;AF=0.650559;AN=214;NS=2504;DP=18662;EAS_AF=0.628;AMR_AF=0.7493;AFR_AF=0.5318;EUR_AF=0.6829;SAS_AF=0.7311;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;1000g2015aug_all=0.650559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9305079;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7043;ExAC_nontcga_ALL=0.6981;ExAC_nontcga_AFR=0.5458;ExAC_nontcga_AMR=0.7746;ExAC_nontcga_EAS=0.6371;ExAC_nontcga_FIN=0.6176;ExAC_nontcga_NFE=0.7092;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7540;AF=0.6493;AF_popmax=0.7293;AF_male=0.6496;AF_female=0.6490;AF_raw=0.6487;AF_afr=0.5491;AF_sas=.;AF_amr=0.7293;AF_eas=0.6298;AF_nfe=0.7046;AF_fin=0.6105;AF_asj=0.8414;AF_oth=0.7057;non_topmed_AF_popmax=0.7290;non_neuro_AF_popmax=0.7083;non_cancer_AF_popmax=.;controls_AF_popmax=0.7076;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.3125::0.259006;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478238;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16593198 rs11670231 A G 100 PASS AC=55;AF=0.175319;AN=214;NS=2504;DP=15997;EAS_AF=0.1677;AMR_AF=0.17;AFR_AF=0.1233;EUR_AF=0.2028;SAS_AF=0.229;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11670231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0008;AF_raw=0.0003;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0050;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0010;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 +19 16593203 rs75847259 A G 100 PASS AC=105;AF=0.43131;AN=214;NS=2504;DP=16499;EAS_AF=0.4296;AMR_AF=0.4438;AFR_AF=0.348;EUR_AF=0.4732;SAS_AF=0.4939;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.43131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75847259;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6213;AF_popmax=0.6979;AF_male=0.6207;AF_female=0.6221;AF_raw=0.6209;AF_afr=0.4904;AF_sas=.;AF_amr=0.5511;AF_eas=0.5913;AF_nfe=0.6979;AF_fin=0.6052;AF_asj=0.8322;AF_oth=0.6803;non_topmed_AF_popmax=0.6997;non_neuro_AF_popmax=0.6962;non_cancer_AF_popmax=.;controls_AF_popmax=0.7021;Kaviar_AF=0.238359;Kaviar_AC=6204;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|1 +19 16593213 rs545855935 AAAAC A 100 PASS AC=55;AF=0.175319;AN=214;NS=2504;DP=17523;EAS_AF=0.1677;AMR_AF=0.17;AFR_AF=0.1233;EUR_AF=0.2028;SAS_AF=0.229;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545855935;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0056791;Kaviar_AC=878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 +19 16593318 rs118131979 C T 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=21729;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon7:c.G861A:p.T287T;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118131979;CLNALLELEID=222802;CLNDN=Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0167;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0346;ExAC_nontcga_NFE=0.0159;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0097;AF=0.0158;AF_popmax=0.0203;AF_male=0.0151;AF_female=0.0167;AF_raw=0.0158;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0203;AF_fin=0.0371;AF_asj=0.0138;AF_oth=0.0212;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0253;Kaviar_AF=0.0122637;Kaviar_AC=1896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.999780;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16593415 rs8100755 G A 100 PASS AC=160;AF=0.660144;AN=214;NS=2504;DP=18080;EAS_AF=0.627;AMR_AF=0.7507;AFR_AF=0.5681;EUR_AF=0.6829;SAS_AF=0.7311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8100755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7048;ExAC_nontcga_ALL=0.7018;ExAC_nontcga_AFR=0.5876;ExAC_nontcga_AMR=0.7753;ExAC_nontcga_EAS=0.6375;ExAC_nontcga_FIN=0.6175;ExAC_nontcga_NFE=0.7095;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7534;AF=0.6603;AF_popmax=0.7329;AF_male=0.6611;AF_female=0.6594;AF_raw=0.6598;AF_afr=0.5887;AF_sas=.;AF_amr=0.7329;AF_eas=0.6294;AF_nfe=0.7044;AF_fin=0.6111;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7327;non_neuro_AF_popmax=0.7120;non_cancer_AF_popmax=.;controls_AF_popmax=0.7082;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8100755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7048;ExAC_nontcga_ALL=0.7018;ExAC_nontcga_AFR=0.5876;ExAC_nontcga_AMR=0.7753;ExAC_nontcga_EAS=0.6375;ExAC_nontcga_FIN=0.6175;ExAC_nontcga_NFE=0.7095;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7534;AF=0.6603;AF_popmax=0.7329;AF_male=0.6611;AF_female=0.6594;AF_raw=0.6598;AF_afr=0.5887;AF_sas=.;AF_amr=0.7329;AF_eas=0.6294;AF_nfe=0.7044;AF_fin=0.6111;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7327;non_neuro_AF_popmax=0.7120;non_cancer_AF_popmax=.;controls_AF_popmax=0.7082;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16593573 rs10403020 G A 100 PASS AC=33;AF=0.144569;AN=214;NS=2504;DP=20082;EAS_AF=0.0992;AMR_AF=0.1182;AFR_AF=0.1868;EUR_AF=0.1581;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon6:c.C702T:p.D234D;1000g2015aug_all=0.144569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10403020;CLNALLELEID=488044;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1692;ExAC_nontcga_ALL=0.1482;ExAC_nontcga_AFR=0.1877;ExAC_nontcga_AMR=0.0867;ExAC_nontcga_EAS=0.0891;ExAC_nontcga_FIN=0.1797;ExAC_nontcga_NFE=0.1664;ExAC_nontcga_OTH=0.125;ExAC_nontcga_SAS=0.1247;AF=0.1635;AF_popmax=0.1772;AF_male=0.1635;AF_female=0.1636;AF_raw=0.1635;AF_afr=0.1772;AF_sas=.;AF_amr=0.1288;AF_eas=0.0790;AF_nfe=0.1677;AF_fin=0.1657;AF_asj=0.0621;AF_oth=0.1636;non_topmed_AF_popmax=0.1778;non_neuro_AF_popmax=0.1809;non_cancer_AF_popmax=.;controls_AF_popmax=0.1795;Kaviar_AF=0.146156;Kaviar_AC=22596;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802942;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 +19 16594967 rs10413787 A G 100 PASS AC=160;AF=0.659744;AN=214;NS=2504;DP=15866;EAS_AF=0.627;AMR_AF=0.7493;AFR_AF=0.5681;EUR_AF=0.6819;SAS_AF=0.7311;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.659744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10413787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7026;ExAC_nontcga_ALL=0.7023;ExAC_nontcga_AFR=0.5862;ExAC_nontcga_AMR=0.7761;ExAC_nontcga_EAS=0.6388;ExAC_nontcga_FIN=0.6179;ExAC_nontcga_NFE=0.7082;ExAC_nontcga_OTH=0.7202;ExAC_nontcga_SAS=0.7548;AF=0.6560;AF_popmax=0.7318;AF_male=0.6569;AF_female=0.6548;AF_raw=0.6554;AF_afr=0.5839;AF_sas=.;AF_amr=0.7318;AF_eas=0.6252;AF_nfe=0.6998;AF_fin=0.6058;AF_asj=0.8380;AF_oth=0.7103;non_topmed_AF_popmax=0.7316;non_neuro_AF_popmax=0.7116;non_cancer_AF_popmax=.;controls_AF_popmax=0.7009;Kaviar_AF=0.003758;Kaviar_AC=581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16594979 rs7252242 C T 100 PASS AC=162;AF=0.692492;AN=214;NS=2504;DP=16891;EAS_AF=0.6756;AMR_AF=0.7594;AFR_AF=0.618;EUR_AF=0.7018;SAS_AF=0.7536;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.692492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7252242;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6512;AF_popmax=0.7244;AF_male=0.6523;AF_female=0.6498;AF_raw=0.6460;AF_afr=0.5851;AF_sas=.;AF_amr=0.7244;AF_eas=0.5738;AF_nfe=0.6959;AF_fin=0.6059;AF_asj=0.8262;AF_oth=0.698;non_topmed_AF_popmax=0.7258;non_neuro_AF_popmax=0.7051;non_cancer_AF_popmax=.;controls_AF_popmax=0.6991;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16594989 rs577084803 C T 100 PASS AC=111;AF=0.510583;AN=214;NS=2504;DP=19616;EAS_AF=0.4861;AMR_AF=0.5144;AFR_AF=0.5174;EUR_AF=0.495;SAS_AF=0.5399;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.510583;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577084803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0019;AF_raw=0.0050;AF_afr=0.0006;AF_sas=.;AF_amr=0.0046;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0100;AF_asj=0.0050;AF_oth=0;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0030;non_cancer_AF_popmax=.;controls_AF_popmax=0.0172;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|1 1|1 1|1 0|1 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|0 1|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|1 0|1 0|1 1|1 1|0 1|0 0|1 0|1 1|0 0|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|1 1|0 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 1|0 1|0 1|0 0|1 0|1 +19 16601154 rs3810196 T C 100 PASS AC=159;AF=0.603035;AN=214;NS=2504;DP=20512;EAS_AF=0.5972;AMR_AF=0.6095;AFR_AF=0.4637;EUR_AF=0.671;SAS_AF=0.7229;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.603035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810196;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6966;ExAC_nontcga_ALL=0.6640;ExAC_nontcga_AFR=0.4833;ExAC_nontcga_AMR=0.5573;ExAC_nontcga_EAS=0.6150;ExAC_nontcga_FIN=0.6150;ExAC_nontcga_NFE=0.7033;ExAC_nontcga_OTH=0.7032;ExAC_nontcga_SAS=0.7476;AF=0.6224;AF_popmax=0.6990;AF_male=0.6225;AF_female=0.6221;AF_raw=0.6219;AF_afr=0.4899;AF_sas=.;AF_amr=0.5508;AF_eas=0.5987;AF_nfe=0.6990;AF_fin=0.6054;AF_asj=0.8345;AF_oth=0.6832;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.6972;non_cancer_AF_popmax=.;controls_AF_popmax=0.7020;Kaviar_AF=0.651324;Kaviar_AC=100696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16601168 rs3810197 G A 100 PASS AC=29;AF=0.114018;AN=214;NS=2504;DP=19974;EAS_AF=0.1042;AMR_AF=0.0937;AFR_AF=0.1036;EUR_AF=0.1362;SAS_AF=0.1299;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114018;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810197;CLNALLELEID=487994;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1415;ExAC_nontcga_ALL=0.1217;ExAC_nontcga_AFR=0.1091;ExAC_nontcga_AMR=0.0677;ExAC_nontcga_EAS=0.0929;ExAC_nontcga_FIN=0.1574;ExAC_nontcga_NFE=0.1379;ExAC_nontcga_OTH=0.1037;ExAC_nontcga_SAS=0.1121;AF=0.1326;AF_popmax=0.1466;AF_male=0.1321;AF_female=0.1334;AF_raw=0.1327;AF_afr=0.1093;AF_sas=.;AF_amr=0.1132;AF_eas=0.0879;AF_nfe=0.1466;AF_fin=0.1559;AF_asj=0.0448;AF_oth=0.1492;non_topmed_AF_popmax=0.1463;non_neuro_AF_popmax=0.1480;non_cancer_AF_popmax=.;controls_AF_popmax=0.1505;Kaviar_AF=0.121493;Kaviar_AC=18783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 +19 16601194 rs3810198 C T 100 PASS AC=159;AF=0.658946;AN=214;NS=2504;DP=19492;EAS_AF=0.627;AMR_AF=0.7493;AFR_AF=0.5673;EUR_AF=0.6789;SAS_AF=0.7311;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;1000g2015aug_all=0.658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810198;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7038;ExAC_nontcga_ALL=0.7011;ExAC_nontcga_AFR=0.5874;ExAC_nontcga_AMR=0.7741;ExAC_nontcga_EAS=0.6377;ExAC_nontcga_FIN=0.6179;ExAC_nontcga_NFE=0.7085;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7529;AF=0.6599;AF_popmax=0.7288;AF_male=0.6610;AF_female=0.6586;AF_raw=0.6593;AF_afr=0.5904;AF_sas=.;AF_amr=0.7288;AF_eas=0.6287;AF_nfe=0.7032;AF_fin=0.6102;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7284;non_neuro_AF_popmax=0.7058;non_cancer_AF_popmax=.;controls_AF_popmax=0.7074;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248025;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16601358 rs199561391 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19392;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.C217G:p.R73G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199561391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.872;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.415;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-5.17;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.833;VEST3_rankscore=0.821;MetaSVM_score=-0.133;MetaSVM_rankscore=0.794;MetaSVM_pred=T;MetaLR_score=0.328;MetaLR_rankscore=0.697;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.406;M-CAP_pred=T;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.383;CADD_raw_rankscore=0.881;CADD_phred=29.5;DANN_score=0.998;DANN_rankscore=0.871;fathmm-MKL_coding_score=0.862;fathmm-MKL_coding_rankscore=0.451;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.661;Eigen-PC-raw=0.609;GenoCanyon_score=0.562;GenoCanyon_score_rankscore=0.214;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=2.266;phyloP100way_vertebrate_rankscore=0.427;phyloP20way_mammalian=0.973;phyloP20way_mammalian_rankscore=0.593;phastCons100way_vertebrate=0.923;phastCons100way_vertebrate_rankscore=0.318;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.270;SiPhy_29way_logOdds_rankscore=0.594;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=.;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778717;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16601411 rs79268770 A T 100 PASS AC=4;AF=0.0355431;AN=214;NS=2504;DP=19982;EAS_AF=0.005;AMR_AF=0.0216;AFR_AF=0.0242;EUR_AF=0.0517;SAS_AF=0.0757;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79268770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0476;ExAC_nontcga_AFR=0.0234;ExAC_nontcga_AMR=0.0144;ExAC_nontcga_EAS=0.0060;ExAC_nontcga_FIN=0.0847;ExAC_nontcga_NFE=0.0534;ExAC_nontcga_OTH=0.0620;ExAC_nontcga_SAS=0.0689;AF=0.0463;AF_popmax=0.0558;AF_male=0.0435;AF_female=0.0499;AF_raw=0.0464;AF_afr=0.0241;AF_sas=.;AF_amr=0.0177;AF_eas=0.0071;AF_nfe=0.0558;AF_fin=0.0873;AF_asj=0.0278;AF_oth=0.0433;non_topmed_AF_popmax=0.0572;non_neuro_AF_popmax=0.0559;non_cancer_AF_popmax=.;controls_AF_popmax=0.0628;Kaviar_AF=0.047121;Kaviar_AC=7285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0588235::-0.52735;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.114091;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16606589 rs201808529 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon2:c.T166C:p.F56L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201808529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.921;Polyphen2_HDIV_rankscore=0.491;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.569;Polyphen2_HVAR_rankscore=0.480;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.837;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.145;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=0.77;FATHMM_converted_rankscore=0.496;FATHMM_pred=T;PROVEAN_score=-5.11;PROVEAN_converted_rankscore=0.831;PROVEAN_pred=D;VEST3_score=0.454;VEST3_rankscore=0.507;MetaSVM_score=-0.579;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.175;MetaLR_rankscore=0.519;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.279;REVEL_rankscore=0.600;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.072;CADD_raw_rankscore=0.836;CADD_phred=28.1;DANN_score=0.998;DANN_rankscore=0.898;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.556;Eigen-PC-raw=0.563;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.519;integrated_fitCons_score_rankscore=0.209;integrated_confidence_value=1;GERP++_RS=5.39;GERP++_RS_rankscore=0.775;phyloP100way_vertebrate=7.025;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=0.985;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.973;phastCons20way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=8.856;SiPhy_29way_logOdds_rankscore=0.342;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1787468|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.915669;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16606727 rs140986966 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=16801;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140986966;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0039;AF_popmax=0.0067;AF_male=0.0049;AF_female=0.0027;AF_raw=0.0039;AF_afr=0.0009;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0067;AF_fin=0;AF_asj=0.0207;AF_oth=0.0028;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.508743;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +19 16606742 rs3810199 G C 100 PASS AC=193;AF=0.802316;AN=214;NS=2504;DP=16649;EAS_AF=0.6964;AMR_AF=0.8703;AFR_AF=0.7678;EUR_AF=0.8419;SAS_AF=0.8691;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.802316;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810199;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8290;AF_popmax=0.8724;AF_male=0.8303;AF_female=0.8273;AF_raw=0.8286;AF_afr=0.7889;AF_sas=.;AF_amr=0.8641;AF_eas=0.6825;AF_nfe=0.8724;AF_fin=0.7755;AF_asj=0.9034;AF_oth=0.8665;non_topmed_AF_popmax=0.8711;non_neuro_AF_popmax=0.8717;non_cancer_AF_popmax=.;controls_AF_popmax=0.8701;Kaviar_AF=0.163801;Kaviar_AC=25324;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.449069;Heart_Left_Ventricle=Heart_Left_Ventricle::0.152574::0.562087;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.373565;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 +19 16606766 rs3810200 G C 100 PASS AC=193;AF=0.810104;AN=214;NS=2504;DP=16254;EAS_AF=0.6964;AMR_AF=0.8732;AFR_AF=0.7958;EUR_AF=0.8419;SAS_AF=0.8691;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.810104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8355;AF_popmax=0.8723;AF_male=0.8370;AF_female=0.8336;AF_raw=0.8352;AF_afr=0.8127;AF_sas=.;AF_amr=0.8644;AF_eas=0.6796;AF_nfe=0.8723;AF_fin=0.7759;AF_asj=0.9034;AF_oth=0.8676;non_topmed_AF_popmax=0.8710;non_neuro_AF_popmax=0.8715;non_cancer_AF_popmax=.;controls_AF_popmax=0.8699;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.449069;Heart_Left_Ventricle=Heart_Left_Ventricle::0.152574::0.562087;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.197480;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 +19 16606821 rs200779567 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15820;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200779567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0016;AF_popmax=0.0023;AF_male=0.0016;AF_female=0.0017;AF_raw=0.0016;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1822681|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.794574;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35521779 rs72556351 G T 100 PASS AC=63;AF=0.148163;AN=214;NS=2504;DP=3658;EAS_AF=0.0546;AMR_AF=0.2205;AFR_AF=0.174;EUR_AF=0.2346;SAS_AF=0.0695;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.148163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72556351;CLNALLELEID=99386;CLNDN=Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.5;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.5;AF=0.1915;AF_popmax=0.2252;AF_male=0.1892;AF_female=0.1945;AF_raw=0.1920;AF_afr=0.1845;AF_sas=.;AF_amr=0.2252;AF_eas=0.0451;AF_nfe=0.2040;AF_fin=0.2204;AF_asj=0.1992;AF_oth=0.2124;non_topmed_AF_popmax=0.2237;non_neuro_AF_popmax=0.2239;non_cancer_AF_popmax=.;controls_AF_popmax=0.2792;Kaviar_AF=0.024534;Kaviar_AC=3793;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001023991|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1175688|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.241974;ALLELE_END GT 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 0|1 0|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 +19 35524558 rs104894718 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon3:c.C363T:p.C121C,SCN1B:NM_001321605:exon3:c.C264T:p.C88C,SCN1B:NM_199037:exon3:c.C363T:p.C121C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs104894718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.510107;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon3:c.C363T:p.C121C,SCN1B:NM_001321605:exon3:c.C264T:p.C88C,SCN1B:NM_199037:exon3:c.C363T:p.C121C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs104894718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.510107;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35524824 rs55742440 T C 100 PASS AC=112;AF=0.377596;AN=214;NS=2504;DP=17595;EAS_AF=0.2411;AMR_AF=0.389;AFR_AF=0.5378;EUR_AF=0.3897;SAS_AF=0.2812;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;1000g2015aug_all=0.377596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55742440;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_converted_rankscore=0.908;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-0.983;MetaSVM_rankscore=0.344;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.216;REVEL_rankscore=0.514;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.608;CADD_raw_rankscore=0.050;CADD_phred=0.120;DANN_score=0.596;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.003;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.329;Eigen-PC-raw=-1.412;GenoCanyon_score=0.205;GenoCanyon_score_rankscore=0.182;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-1.91;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-0.013;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=-0.503;phyloP20way_mammalian_rankscore=0.051;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=8.821;SiPhy_29way_logOdds_rankscore=0.340;Interpro_domain=.;GTEx_V6p_gene=ENSG00000089351.10|ENSG00000105711.6|ENSG00000089351.10|ENSG00000179066.6|ENSG00000089351.10;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3721;ExAC_nontcga_ALL=0.4245;ExAC_nontcga_AFR=0.5838;ExAC_nontcga_AMR=0.4259;ExAC_nontcga_EAS=0.3600;ExAC_nontcga_FIN=0.5115;ExAC_nontcga_NFE=0.4642;ExAC_nontcga_OTH=0.4310;ExAC_nontcga_SAS=0.3122;AF=0.4232;AF_popmax=0.5246;AF_male=0.4215;AF_female=0.4253;AF_raw=0.4235;AF_afr=0.5246;AF_sas=.;AF_amr=0.3641;AF_eas=0.2668;AF_nfe=0.3890;AF_fin=0.4096;AF_asj=0.4759;AF_oth=0.3965;non_topmed_AF_popmax=0.5253;non_neuro_AF_popmax=0.5241;non_cancer_AF_popmax=.;controls_AF_popmax=0.5309;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.418747;ALLELE_END GT 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 +19 35524836 rs66876876 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18012;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G641A:p.R214Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66876876;CLNALLELEID=188693;CLNDN=Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided;CLNDISDB=MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.335;SIFT_converted_rankscore=0.129;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_rankscore=0.163;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.59;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.31;PROVEAN_converted_rankscore=0.040;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.013;MetaSVM_score=-0.732;MetaSVM_rankscore=0.589;MetaSVM_pred=T;MetaLR_score=0.407;MetaLR_rankscore=0.757;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.067;CADD_raw_rankscore=0.196;CADD_phred=11.04;DANN_score=0.968;DANN_rankscore=0.304;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.052;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.953;Eigen-PC-raw=-1.042;GenoCanyon_score=0.131;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=0.783;GERP++_RS_rankscore=0.176;phyloP100way_vertebrate=-0.828;phyloP100way_vertebrate_rankscore=0.045;phyloP20way_mammalian=0.138;phyloP20way_mammalian_rankscore=0.222;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=4.305;SiPhy_29way_logOdds_rankscore=0.103;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0145;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0023;AF_popmax=0.0038;AF_male=0.0022;AF_female=0.0024;AF_raw=0.0024;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0023;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0022509;Kaviar_AC=348;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.498282;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35524939 rs67701503 C A 100 PASS AC=48;AF=0.127396;AN=214;NS=2504;DP=21003;EAS_AF=0.1825;AMR_AF=0.1311;AFR_AF=0.0885;EUR_AF=0.1461;SAS_AF=0.1012;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.C744A:p.S248R;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67701503;CLNALLELEID=142702;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.012;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.011;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.869;CADD_raw_rankscore=0.522;CADD_phred=23.5;DANN_score=0.991;DANN_rankscore=0.515;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.780;Eigen-PC-raw=-0.832;GenoCanyon_score=0.797;GenoCanyon_score_rankscore=0.241;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=1.88;GERP++_RS_rankscore=0.245;phyloP100way_vertebrate=0.294;phyloP100way_vertebrate_rankscore=0.187;phyloP20way_mammalian=0.032;phyloP20way_mammalian_rankscore=0.150;phastCons100way_vertebrate=0.604;phastCons100way_vertebrate_rankscore=0.275;phastCons20way_mammalian=0.698;phastCons20way_mammalian_rankscore=0.309;SiPhy_29way_logOdds=7.859;SiPhy_29way_logOdds_rankscore=0.285;Interpro_domain=.;GTEx_V6p_gene=ENSG00000271032.1|ENSG00000168661.10|ENSG00000105711.6|ENSG00000271032.1|ENSG00000271032.1|ENSG00000271032.1|ENSG00000105707.9|ENSG00000271032.1|ENSG00000089351.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1455;ExAC_nontcga_ALL=0.1424;ExAC_nontcga_AFR=0.1045;ExAC_nontcga_AMR=0.1419;ExAC_nontcga_EAS=0.1813;ExAC_nontcga_FIN=0.15;ExAC_nontcga_NFE=0.1928;ExAC_nontcga_OTH=0.1746;ExAC_nontcga_SAS=0.1149;AF=0.1500;AF_popmax=0.2054;AF_male=0.1471;AF_female=0.1536;AF_raw=0.1507;AF_afr=0.0898;AF_sas=.;AF_amr=0.1111;AF_eas=0.2054;AF_nfe=0.1679;AF_fin=0.1955;AF_asj=0.2690;AF_oth=0.1526;non_topmed_AF_popmax=0.2040;non_neuro_AF_popmax=0.2054;non_cancer_AF_popmax=.;controls_AF_popmax=0.2082;Kaviar_AF=0.0493008;Kaviar_AC=7622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.032540;ALLELE_END GT 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 +19 35524944 rs67486287 G C 100 PASS AC=48;AF=0.119209;AN=214;NS=2504;DP=21167;EAS_AF=0.1825;AMR_AF=0.1297;AFR_AF=0.0582;EUR_AF=0.1461;SAS_AF=0.1012;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G749C:p.R250T;1000g2015aug_all=0.119209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67486287;CLNALLELEID=45417;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.218;Polyphen2_HDIV_rankscore=0.285;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_rankscore=0.250;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.6;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.044;VEST3_rankscore=0.024;MetaSVM_score=-1.015;MetaSVM_rankscore=0.254;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.010;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.238;CADD_raw_rankscore=0.214;CADD_phred=11.94;DANN_score=0.931;DANN_rankscore=0.221;fathmm-MKL_coding_score=0.096;fathmm-MKL_coding_rankscore=0.151;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.771;Eigen-PC-raw=-0.871;GenoCanyon_score=0.618;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=1.84;GERP++_RS_rankscore=0.242;phyloP100way_vertebrate=0.409;phyloP100way_vertebrate_rankscore=0.207;phyloP20way_mammalian=0.147;phyloP20way_mammalian_rankscore=0.235;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.129;SiPhy_29way_logOdds_rankscore=0.141;Interpro_domain=.;GTEx_V6p_gene=ENSG00000271032.1|ENSG00000168661.10|ENSG00000271032.1|ENSG00000271032.1|ENSG00000271032.1|ENSG00000105707.9|ENSG00000271032.1|ENSG00000089351.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.1368;ExAC_nontcga_AFR=0.0753;ExAC_nontcga_AMR=0.1404;ExAC_nontcga_EAS=0.1824;ExAC_nontcga_FIN=0.15;ExAC_nontcga_NFE=0.1932;ExAC_nontcga_OTH=0.1746;ExAC_nontcga_SAS=0.1095;AF=0.1425;AF_popmax=0.2058;AF_male=0.1394;AF_female=0.1464;AF_raw=0.1432;AF_afr=0.0643;AF_sas=.;AF_amr=0.1097;AF_eas=0.2058;AF_nfe=0.1676;AF_fin=0.1946;AF_asj=0.2690;AF_oth=0.1489;non_topmed_AF_popmax=0.2044;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2083;Kaviar_AF=0.0480912;Kaviar_AC=7435;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.223272;ALLELE_END GT 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 +19 35530073 rs16969930 T C 100 PASS AC=7;AF=0.0155751;AN=214;NS=2504;DP=22965;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon4:c.T501C:p.I167I,SCN1B:NM_001321605:exon4:c.T402C:p.I134I;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16969930;CLNALLELEID=135657;CLNDN=Cardiac_conduction_defect,_nonspecific|Seizures|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0321;ExAC_nontcga_ALL=0.0232;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0305;ExAC_nontcga_OTH=0.0317;ExAC_nontcga_SAS=0.0331;AF=0.0193;AF_popmax=0.0294;AF_male=0.0188;AF_female=0.0200;AF_raw=0.0194;AF_afr=0.0073;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0294;AF_fin=0.0141;AF_asj=0.0207;AF_oth=0.0211;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0300;non_cancer_AF_popmax=.;controls_AF_popmax=0.0245;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483376;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +19 35530482 rs528950415 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528950415;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530514 rs28365107 T G 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=17101;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.015;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0175;ExAC_nontcga_SAS=0.0200;AF=0.0093;AF_popmax=0.0154;AF_male=0.0085;AF_female=0.0102;AF_raw=0.0093;AF_afr=0.0037;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0154;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0074;non_topmed_AF_popmax=0.0149;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0118692;Kaviar_AC=1835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.420194;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530525 rs28365109 C A 100 PASS AC=3;AF=0.00798722;AN=214;NS=2504;DP=17081;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0204;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365109;CLNALLELEID=256855;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0199;AF=0.0093;AF_popmax=0.0155;AF_male=0.0087;AF_female=0.0102;AF_raw=0.0094;AF_afr=0.0037;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0155;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0083;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0131;Kaviar_AF=0.0119145;Kaviar_AC=1842;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.185828;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530580 rs150721582 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=16333;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon5:c.G632A:p.C211Y,SCN1B:NM_001321605:exon5:c.G533A:p.C178Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150721582;CLNALLELEID=188707;CLNDN=Seizures|Brugada_syndrome_5|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.165;MutationAssessor_score_rankscore=0.608;MutationAssessor_pred=M;FATHMM_score=-4.78;FATHMM_converted_rankscore=0.981;FATHMM_pred=D;PROVEAN_score=-4.77;PROVEAN_converted_rankscore=0.804;PROVEAN_pred=D;VEST3_score=0.799;VEST3_rankscore=0.789;MetaSVM_score=1.027;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.944;MetaLR_rankscore=0.982;MetaLR_pred=D;M-CAP_score=0.279;M-CAP_rankscore=0.902;M-CAP_pred=D;REVEL_score=0.666;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.991;CADD_raw_rankscore=0.824;CADD_phred=27.8;DANN_score=0.997;DANN_rankscore=0.834;fathmm-MKL_coding_score=0.875;fathmm-MKL_coding_rankscore=0.468;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.716;Eigen-PC-raw=0.670;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=7.152;phyloP100way_vertebrate_rankscore=0.768;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=8.254;SiPhy_29way_logOdds_rankscore=0.307;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0004;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541412;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530586 rs201209882 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16084;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon5:c.G638A:p.G213D,SCN1B:NM_001321605:exon5:c.G539A:p.G180D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201209882;CLNALLELEID=188708;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.941;Polyphen2_HVAR_rankscore=0.659;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.795;MutationAssessor_score_rankscore=0.474;MutationAssessor_pred=L;FATHMM_score=-5.02;FATHMM_converted_rankscore=0.986;FATHMM_pred=D;PROVEAN_score=-2.95;PROVEAN_converted_rankscore=0.615;PROVEAN_pred=D;VEST3_score=0.562;VEST3_rankscore=0.596;MetaSVM_score=1.013;MetaSVM_rankscore=0.974;MetaSVM_pred=D;MetaLR_score=0.938;MetaLR_rankscore=0.980;MetaLR_pred=D;M-CAP_score=0.386;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.607;REVEL_rankscore=0.848;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.849;CADD_raw_rankscore=0.801;CADD_phred=27.3;DANN_score=0.998;DANN_rankscore=0.888;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.529;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.443;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.61;GERP++_RS_rankscore=0.301;phyloP100way_vertebrate=5.090;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=7.320;SiPhy_29way_logOdds_rankscore=0.255;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.49e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.682159;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530690 rs28365105 C G 100 PASS AC=16;AF=0.0383387;AN=214;NS=2504;DP=12003;EAS_AF=0.001;AMR_AF=0.0519;AFR_AF=0.0061;EUR_AF=0.0686;SAS_AF=0.0798;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0383387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365105;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0689;AF_popmax=0.0987;AF_male=0.0663;AF_female=0.0722;AF_raw=0.0691;AF_afr=0.0127;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0987;AF_fin=0.1060;AF_asj=0.125;AF_oth=0.0720;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.1235;Kaviar_AF=0.0119791;Kaviar_AC=1852;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.412912;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46273462 rs564296814 CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 100 PASS AC=181;AF=0.891573;AN=214;NS=2504;DP=12697;EAS_AF=0.8611;AMR_AF=0.8948;AFR_AF=0.9682;EUR_AF=0.8181;SAS_AF=0.8926;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.891573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564296814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1511;AF_popmax=0.2225;AF_male=0.1513;AF_female=0.1507;AF_raw=0.1381;AF_afr=0.1436;AF_sas=.;AF_amr=0.2225;AF_eas=0.1143;AF_nfe=0.1490;AF_fin=0.1668;AF_asj=0.1435;AF_oth=0.1928;non_topmed_AF_popmax=0.2273;non_neuro_AF_popmax=0.2018;non_cancer_AF_popmax=.;controls_AF_popmax=0.2121;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 0|1 1|0 +19 46273522 rs573703971 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=8629;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573703971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=6.069e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.588e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.556010;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +19 46273627 rs576259794 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=12847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576259794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.773124;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274171 rs635299 A C 100 PASS AC=110;AF=0.608227;AN=214;NS=2504;DP=12073;EAS_AF=0.628;AMR_AF=0.6686;AFR_AF=0.6679;EUR_AF=0.4672;SAS_AF=0.6094;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.608227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs635299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5305;AF_popmax=0.6446;AF_male=0.5378;AF_female=0.5214;AF_raw=0.5304;AF_afr=0.6440;AF_sas=.;AF_amr=0.6427;AF_eas=0.6446;AF_nfe=0.4695;AF_fin=0.4632;AF_asj=0.3586;AF_oth=0.4963;non_topmed_AF_popmax=0.6481;non_neuro_AF_popmax=0.6485;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.641974;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.608227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs635299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5305;AF_popmax=0.6446;AF_male=0.5378;AF_female=0.5214;AF_raw=0.5304;AF_afr=0.6440;AF_sas=.;AF_amr=0.6427;AF_eas=0.6446;AF_nfe=0.4695;AF_fin=0.4632;AF_asj=0.3586;AF_oth=0.4963;non_topmed_AF_popmax=0.6481;non_neuro_AF_popmax=0.6485;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.641974;ALLELE_END GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46274357 rs183029748 G A 100 PASS AC=2;AF=0.00299521;AN=214;NS=2504;DP=14238;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.002;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183029748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0125;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0231;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0066;AF=0.0092;AF_popmax=0.0147;AF_male=0.0098;AF_female=0.0083;AF_raw=0.0092;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0140;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.318060;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183029748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0125;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0231;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0066;AF=0.0092;AF_popmax=0.0147;AF_male=0.0098;AF_female=0.0083;AF_raw=0.0092;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0140;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.318060;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274392 rs2854300 G C 100 PASS AC=14;AF=0.0543131;AN=214;NS=2504;DP=15289;EAS_AF=0.0873;AMR_AF=0.0259;AFR_AF=0.0257;EUR_AF=0.0497;SAS_AF=0.0838;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2854300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1415;ExAC_nontcga_AFR=0.0544;ExAC_nontcga_AMR=0.0686;ExAC_nontcga_EAS=0.2031;ExAC_nontcga_FIN=0.1;ExAC_nontcga_NFE=0.1435;ExAC_nontcga_OTH=0.1786;ExAC_nontcga_SAS=0.1558;AF=0.0489;AF_popmax=0.0738;AF_male=0.0482;AF_female=0.0498;AF_raw=0.0491;AF_afr=0.0337;AF_sas=.;AF_amr=0.0295;AF_eas=0.0738;AF_nfe=0.0550;AF_fin=0.0423;AF_asj=0.0972;AF_oth=0.0729;non_topmed_AF_popmax=0.0737;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0733;Kaviar_AF=0.0215974;Kaviar_AC=3339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.711432;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2854300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1415;ExAC_nontcga_AFR=0.0544;ExAC_nontcga_AMR=0.0686;ExAC_nontcga_EAS=0.2031;ExAC_nontcga_FIN=0.1;ExAC_nontcga_NFE=0.1435;ExAC_nontcga_OTH=0.1786;ExAC_nontcga_SAS=0.1558;AF=0.0489;AF_popmax=0.0738;AF_male=0.0482;AF_female=0.0498;AF_raw=0.0491;AF_afr=0.0337;AF_sas=.;AF_amr=0.0295;AF_eas=0.0738;AF_nfe=0.0550;AF_fin=0.0423;AF_asj=0.0972;AF_oth=0.0729;non_topmed_AF_popmax=0.0737;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0733;Kaviar_AF=0.0215974;Kaviar_AC=3339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.711432;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274553 rs112693590 G A 100 PASS AC=11;AF=0.0177716;AN=214;NS=2504;DP=16091;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.0646;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112693590;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.223;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.279;CADD_raw_rankscore=0.121;CADD_phred=5.484;DANN_score=0.731;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.137;Eigen-PC-raw=5.898;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.742;integrated_fitCons_score_rankscore=0.980;integrated_confidence_value=0;GERP++_RS=0.764;GERP++_RS_rankscore=0.175;phyloP100way_vertebrate=-0.935;phyloP100way_vertebrate_rankscore=0.040;phyloP20way_mammalian=-0.059;phyloP20way_mammalian_rankscore=0.122;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.800;SiPhy_29way_logOdds_rankscore=0.126;Interpro_domain=.;GTEx_V6p_gene=ENSG00000181027.6;GTEx_V6p_tissue=Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0519;ExAC_nontcga_ALL=0.0415;ExAC_nontcga_AFR=0.0081;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1050;ExAC_nontcga_NFE=0.0595;ExAC_nontcga_OTH=0.0335;ExAC_nontcga_SAS=0.0068;AF=0.0404;AF_popmax=0.0525;AF_male=0.0389;AF_female=0.0423;AF_raw=0.0405;AF_afr=0.0087;AF_sas=.;AF_amr=0.0153;AF_eas=0.0006;AF_nfe=0.0525;AF_fin=0.0848;AF_asj=0.0414;AF_oth=0.0579;non_topmed_AF_popmax=0.0537;non_neuro_AF_popmax=0.0523;non_cancer_AF_popmax=.;controls_AF_popmax=0.0544;Kaviar_AF=0.03857;Kaviar_AC=5963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.860318;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 46274624 rs146680240 G A 100 PASS AC=1;AF=0.00559105;AN=214;NS=2504;DP=14359;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0169;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1364T:p.T455M,DMPK:NM_001081563:exon12:c.C1661T:p.T554M,DMPK:NM_001081560:exon13:c.C1616T:p.T539M,DMPK:NM_001081562:exon13:c.C1616T:p.T539M,DMPK:NM_004409:exon13:c.C1631T:p.T544M,DMPK:NM_001288764:exon14:c.C1709T:p.T570M;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146680240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.062;SIFT_converted_rankscore=0.416;SIFT_pred=T;Polyphen2_HDIV_score=0.777;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_rankscore=0.373;Polyphen2_HVAR_pred=B;LRT_score=0.055;LRT_converted_rankscore=0.227;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.35;MutationAssessor_score_rankscore=0.677;MutationAssessor_pred=M;FATHMM_score=-0.48;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-1.14;PROVEAN_converted_rankscore=0.293;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.055;MetaSVM_score=-0.978;MetaSVM_rankscore=0.355;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_rankscore=0.387;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.047;CADD_raw_rankscore=0.426;CADD_phred=22.4;DANN_score=0.991;DANN_rankscore=0.510;fathmm-MKL_coding_score=0.743;fathmm-MKL_coding_rankscore=0.361;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.334;Eigen-PC-raw=-0.217;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=0.524;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.057;SiPhy_29way_logOdds_rankscore=0.296;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0289;ExAC_nontcga_NFE=0.0160;ExAC_nontcga_OTH=0.0112;ExAC_nontcga_SAS=0.0063;AF=0.0130;AF_popmax=0.0168;AF_male=0.0142;AF_female=0.0115;AF_raw=0.0131;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0302;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0115134;Kaviar_AC=1780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.081705;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274650 rs140231303 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13894;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1338T:p.V446V,DMPK:NM_001081563:exon12:c.C1635T:p.V545V,DMPK:NM_001081560:exon13:c.C1590T:p.V530V,DMPK:NM_001081562:exon13:c.C1590T:p.V530V,DMPK:NM_004409:exon13:c.C1605T:p.V535V,DMPK:NM_001288764:exon14:c.C1683T:p.V561V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140231303;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.598e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.859e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000752|hsa-miR-328-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.142812;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274701 rs201338891 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14013;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201338891;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.654e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.875e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.172526;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274972 rs915915 A C 100 PASS AC=110;AF=0.576078;AN=214;NS=2504;DP=14432;EAS_AF=0.629;AMR_AF=0.6556;AFR_AF=0.5545;EUR_AF=0.4652;SAS_AF=0.6084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.576078;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs915915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4529;ExAC_nontcga_ALL=0.5267;ExAC_nontcga_AFR=0.5292;ExAC_nontcga_AMR=0.7024;ExAC_nontcga_EAS=0.6557;ExAC_nontcga_FIN=0.4522;ExAC_nontcga_NFE=0.4603;ExAC_nontcga_OTH=0.4673;ExAC_nontcga_SAS=0.5929;AF=0.4936;AF_popmax=0.6467;AF_male=0.5007;AF_female=0.4848;AF_raw=0.4935;AF_afr=0.5212;AF_sas=.;AF_amr=0.6333;AF_eas=0.6467;AF_nfe=0.4674;AF_fin=0.4524;AF_asj=0.3552;AF_oth=0.4852;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.488474;Kaviar_AC=75519;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.522029;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.576078;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs915915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4529;ExAC_nontcga_ALL=0.5267;ExAC_nontcga_AFR=0.5292;ExAC_nontcga_AMR=0.7024;ExAC_nontcga_EAS=0.6557;ExAC_nontcga_FIN=0.4522;ExAC_nontcga_NFE=0.4603;ExAC_nontcga_OTH=0.4673;ExAC_nontcga_SAS=0.5929;AF=0.4936;AF_popmax=0.6467;AF_male=0.5007;AF_female=0.4848;AF_raw=0.4935;AF_afr=0.5212;AF_sas=.;AF_amr=0.6333;AF_eas=0.6467;AF_nfe=0.4674;AF_fin=0.4524;AF_asj=0.3552;AF_oth=0.4852;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.488474;Kaviar_AC=75519;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.522029;ALLELE_END GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46275976 rs527221 G C 100 PASS AC=22;AF=0.145168;AN=214;NS=2504;DP=18162;EAS_AF=0.1796;AMR_AF=0.1902;AFR_AF=0.053;EUR_AF=0.1113;SAS_AF=0.2372;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon8:c.C1000G:p.L334V,DMPK:NM_001081563:exon9:c.C1297G:p.L433V,DMPK:NM_001081560:exon10:c.C1252G:p.L418V,DMPK:NM_001081562:exon10:c.C1252G:p.L418V,DMPK:NM_001288766:exon10:c.C1252G:p.L418V,DMPK:NM_004409:exon10:c.C1267G:p.L423V,DMPK:NM_001288764:exon11:c.C1345G:p.L449V;1000g2015aug_all=0.145168;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527221;CLNALLELEID=134350;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.368;SIFT_converted_rankscore=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.34;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.108;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.337;LRT_pred=N;MutationTaster_score=0.085;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=2.77;MutationAssessor_score_rankscore=0.812;MutationAssessor_pred=M;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.144;VEST3_rankscore=0.169;MetaSVM_score=-1.001;MetaSVM_rankscore=0.297;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.333;CADD_raw_rankscore=0.342;CADD_phred=18.38;DANN_score=0.997;DANN_rankscore=0.773;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_rankscore=0.395;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.360;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.110;phyloP100way_vertebrate_rankscore=0.498;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=11.524;SiPhy_29way_logOdds_rankscore=0.496;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.1499;ExAC_nontcga_AFR=0.0694;ExAC_nontcga_AMR=0.2329;ExAC_nontcga_EAS=0.1884;ExAC_nontcga_FIN=0.1425;ExAC_nontcga_NFE=0.1169;ExAC_nontcga_OTH=0.1266;ExAC_nontcga_SAS=0.2354;AF=0.1160;AF_popmax=0.1934;AF_male=0.1159;AF_female=0.1161;AF_raw=0.1162;AF_afr=0.0637;AF_sas=.;AF_amr=0.1934;AF_eas=0.1682;AF_nfe=0.1269;AF_fin=0.1392;AF_asj=0.1241;AF_oth=0.1682;non_topmed_AF_popmax=0.1988;non_neuro_AF_popmax=0.1751;non_cancer_AF_popmax=.;controls_AF_popmax=0.1870;Kaviar_AF=0.137463;Kaviar_AC=21252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809992;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46276056 rs16939 C A 100 PASS AC=110;AF=0.53754;AN=214;NS=2504;DP=17888;EAS_AF=0.627;AMR_AF=0.6499;AFR_AF=0.413;EUR_AF=0.4672;SAS_AF=0.6063;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.53754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4545;ExAC_nontcga_ALL=0.5126;ExAC_nontcga_AFR=0.4360;ExAC_nontcga_AMR=0.6821;ExAC_nontcga_EAS=0.6741;ExAC_nontcga_FIN=0.4721;ExAC_nontcga_NFE=0.4737;ExAC_nontcga_OTH=0.4542;ExAC_nontcga_SAS=0.5944;AF=0.4647;AF_popmax=0.6467;AF_male=0.4685;AF_female=0.4599;AF_raw=0.4645;AF_afr=0.4124;AF_sas=.;AF_amr=0.6309;AF_eas=0.6467;AF_nfe=0.4681;AF_fin=0.4634;AF_asj=0.3586;AF_oth=0.4787;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.442232;Kaviar_AC=68370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46278189 rs112768469 G A 100 PASS AC=1;AF=0.00559105;AN=214;NS=2504;DP=15858;EAS_AF=0;AMR_AF=0;AFR_AF=0.0204;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112768469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0213;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0052;AF_popmax=0.0183;AF_male=0.0053;AF_female=0.0051;AF_raw=0.0052;AF_afr=0.0183;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0191;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001025154|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.839230;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46280783 rs146157132 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17015;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G681A:p.R227R,DMPK:NM_001081563:exon7:c.G978A:p.R326R,DMPK:NM_001081560:exon8:c.G948A:p.R316R,DMPK:NM_001081562:exon8:c.G948A:p.R316R,DMPK:NM_001288766:exon8:c.G948A:p.R316R,DMPK:NM_004409:exon8:c.G948A:p.R316R,DMPK:NM_001288764:exon9:c.G1026A:p.R342R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146157132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.469e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.853e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.673643;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G681A:p.R227R,DMPK:NM_001081563:exon7:c.G978A:p.R326R,DMPK:NM_001081560:exon8:c.G948A:p.R316R,DMPK:NM_001081562:exon8:c.G948A:p.R316R,DMPK:NM_001288766:exon8:c.G948A:p.R316R,DMPK:NM_004409:exon8:c.G948A:p.R316R,DMPK:NM_001288764:exon9:c.G1026A:p.R342R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146157132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.469e-06;ExA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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46280917 rs141629958 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18041;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46281893 rs145501208 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15438;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon3:c.G172A:p.V58I,DMPK:NM_001081563:exon4:c.G469A:p.V157I,DMPK:NM_001081560:exon5:c.G439A:p.V147I,DMPK:NM_001081562:exon5:c.G439A:p.V147I,DMPK:NM_001288766:exon5:c.G439A:p.V147I,DMPK:NM_004409:exon5:c.G439A:p.V147I,DMPK:NM_001288764:exon6:c.G517A:p.V173I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145501208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.044;SIFT_converted_rankscore=0.433;SIFT_pred=D;Polyphen2_HDIV_score=0.905;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.801;Polyphen2_HVAR_rankscore=0.564;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.380;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=1.73;MutationAssessor_score_rankscore=0.448;MutationAssessor_pred=L;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-0.91;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.307;VEST3_rankscore=0.367;MetaSVM_score=-0.911;MetaSVM_rankscore=0.468;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_rankscore=0.490;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.311;M-CAP_pred=T;REVEL_score=0.075;REVEL_rankscore=0.224;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.368;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.998;DANN_rankscore=0.854;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.409;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.179;Eigen-PC-raw=0.241;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=4.976;phyloP100way_vertebrate_rankscore=0.633;phyloP20way_mammalian=0.925;phyloP20way_mammalian_rankscore=0.434;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.796;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.569e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.189e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.838515;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46282503 rs572634 A C 100 PASS AC=23;AF=0.122604;AN=214;NS=2504;DP=15178;EAS_AF=0.0923;AMR_AF=0.1888;AFR_AF=0.0272;EUR_AF=0.1153;SAS_AF=0.2434;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1176;ExAC_nontcga_ALL=0.1438;ExAC_nontcga_AFR=0.0483;ExAC_nontcga_AMR=0.2308;ExAC_nontcga_EAS=0.1017;ExAC_nontcga_FIN=0.1527;ExAC_nontcga_NFE=0.1222;ExAC_nontcga_OTH=0.1210;ExAC_nontcga_SAS=0.2258;AF=0.1139;AF_popmax=0.1910;AF_male=0.1123;AF_female=0.1159;AF_raw=0.1137;AF_afr=0.0479;AF_sas=.;AF_amr=0.1910;AF_eas=0.0968;AF_nfe=0.1352;AF_fin=0.1540;AF_asj=0.125;AF_oth=0.1753;non_topmed_AF_popmax=0.1963;non_neuro_AF_popmax=0.1715;non_cancer_AF_popmax=.;controls_AF_popmax=0.1829;Kaviar_AF=0.134539;Kaviar_AC=20800;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1556196|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.312514;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46282683 rs145200358 G A 100 PASS AC=3;AF=0.0127796;AN=214;NS=2504;DP=12359;EAS_AF=0.0099;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.046;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145200358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0085;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0395;AF=0.0050;AF_popmax=0.0084;AF_male=0.0049;AF_female=0.0051;AF_raw=0.0050;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0.0026;AF_nfe=0.0084;AF_fin=0;AF_asj=0.0104;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0102651;Kaviar_AC=1587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.496527;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145200358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0085;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0395;AF=0.0050;AF_popmax=0.0084;AF_male=0.0049;AF_female=0.0051;AF_raw=0.0050;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0.0026;AF_nfe=0.0084;AF_fin=0;AF_asj=0.0104;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0102651;Kaviar_AC=1587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.496527;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46285498 rs200832423 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8918;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001081560:exon1:c.C113T:p.A38V,DMPK:NM_001081562:exon1:c.C113T:p.A38V,DMPK:NM_001288766:exon1:c.C113T:p.A38V,DMPK:NM_004409:exon1:c.C113T:p.A38V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200832423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.494;SIFT_converted_rankscore=0.124;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.417;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.208;MutationTaster_pred=N;MutationAssessor_score=1.155;MutationAssessor_score_rankscore=0.297;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.452;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.094;MetaSVM_score=-0.894;MetaSVM_rankscore=0.486;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_rankscore=0.474;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.592;M-CAP_pred=D;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.577;CADD_raw_rankscore=0.371;CADD_phred=19.96;DANN_score=0.985;DANN_rankscore=0.417;fathmm-MKL_coding_score=0.528;fathmm-MKL_coding_rankscore=0.290;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.054;Eigen-PC-raw=0.057;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.742;integrated_fitCons_score_rankscore=0.980;integrated_confidence_value=0;GERP++_RS=4.14;GERP++_RS_rankscore=0.477;phyloP100way_vertebrate=1.544;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.952;phastCons100way_vertebrate_rankscore=0.329;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.700;SiPhy_29way_logOdds_rankscore=0.686;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.136e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1186606|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.696254;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47104678 rs201296349 C A 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=8425;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM3;GeneDetail.refGene=NM_005184:c.-14C>A\x3bNM_001329925:c.-6850C>A\x3bNM_001329924:c.-6850C>A\x3bNM_001329926:c.-6850C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201296349;CLNALLELEID=379605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0127;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0295;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0077;AF=0.0109;AF_popmax=0.0169;AF_male=0.0107;AF_female=0.0111;AF_raw=0.0109;AF_afr=0.0038;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0064;AF_asj=0.0423;AF_oth=0.0111;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0157;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0047218;Kaviar_AC=730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110393|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1609468|N/A|FOXP1|PAZAR,OREG1944831|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47104779 rs184847124 A C 100 PASS AC=5;AF=0.0249601;AN=214;NS=2504;DP=7688;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0239;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184847124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0151;AF_popmax=0.0239;AF_male=0.0155;AF_female=0.0146;AF_raw=0.0152;AF_afr=0.0039;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0239;AF_fin=0.0102;AF_asj=0.0276;AF_oth=0.0203;non_topmed_AF_popmax=0.0239;non_neuro_AF_popmax=0.0242;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0226295;Kaviar_AC=589;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110393|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1944831|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +19 47109011 rs3729510 T C 100 PASS AC=152;AF=0.843051;AN=214;NS=2504;DP=19069;EAS_AF=0.9484;AMR_AF=0.8184;AFR_AF=0.9274;EUR_AF=0.6819;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.843051;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6911;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7658;AF_popmax=0.9641;AF_male=0.7752;AF_female=0.7540;AF_raw=0.7654;AF_afr=0.8970;AF_sas=.;AF_amr=0.7813;AF_eas=0.9641;AF_nfe=0.6929;AF_fin=0.6770;AF_asj=0.7931;AF_oth=0.7264;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9661;Kaviar_AF=0.736207;Kaviar_AC=19162;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 +19 47109190 rs541090118 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541090118;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47111663 rs3729760 T C 100 PASS AC=152;AF=0.846446;AN=214;NS=2504;DP=21569;EAS_AF=0.9484;AMR_AF=0.8112;AFR_AF=0.9539;EUR_AF=0.669;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.846446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7617;AF_popmax=0.9641;AF_male=0.7714;AF_female=0.7495;AF_raw=0.7609;AF_afr=0.9178;AF_sas=.;AF_amr=0.7748;AF_eas=0.9641;AF_nfe=0.6768;AF_fin=0.6648;AF_asj=0.7862;AF_oth=0.7153;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9662;Kaviar_AF=0.140082;Kaviar_AC=21657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.846446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7617;AF_popmax=0.9641;AF_male=0.7714;AF_female=0.7495;AF_raw=0.7609;AF_afr=0.9178;AF_sas=.;AF_amr=0.7748;AF_eas=0.9641;AF_nfe=0.6768;AF_fin=0.6648;AF_asj=0.7862;AF_oth=0.7153;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9662;Kaviar_AF=0.140082;Kaviar_AC=21657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 +19 47111722 rs577585466 CT C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=21996;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=TTT|TTT|TT|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1064795701;CLNALLELEID=410634;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0022;AF=0.0003;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007374;Kaviar_AC=114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47112159 rs202189304 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22527;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM3:NM_001329925:exon4:c.G234A:p.G78G,CALM3:NM_001329921:exon5:c.G234A:p.G78G,CALM3:NM_001329922:exon5:c.G342A:p.G114G,CALM3:NM_001329924:exon5:c.G234A:p.G78G,CALM3:NM_001329926:exon5:c.G234A:p.G78G,CALM3:NM_005184:exon5:c.G342A:p.G114G,CALM3:NM_001329923:exon6:c.G234A:p.G78G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202189304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.014e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.911e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.259635;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47112357 rs200365925 CCT C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47258674 rs3201779 C T 100 PASS AC=55;AF=0.103834;AN=214;NS=2504;DP=12649;EAS_AF=0.001;AMR_AF=0.1268;AFR_AF=0.0446;EUR_AF=0.2256;SAS_AF=0.1483;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=FKRP;GeneDetail.refGene=NM_024301:c.-34C>T\x3bNM_001039885:c.-34C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3201779;CLNALLELEID=101998;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2281;ExAC_nontcga_ALL=0.2263;ExAC_nontcga_AFR=0.0799;ExAC_nontcga_AMR=0.1167;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.2515;ExAC_nontcga_NFE=0.2908;ExAC_nontcga_OTH=0.2306;ExAC_nontcga_SAS=0.2338;AF=0.1790;AF_popmax=0.2514;AF_male=0.1780;AF_female=0.1803;AF_raw=0.1792;AF_afr=0.0622;AF_sas=.;AF_amr=0.1321;AF_eas=0.0013;AF_nfe=0.2514;AF_fin=0.2222;AF_asj=0.2674;AF_oth=0.2190;non_topmed_AF_popmax=0.2462;non_neuro_AF_popmax=0.2512;non_cancer_AF_popmax=.;controls_AF_popmax=0.2459;Kaviar_AF=0.169791;Kaviar_AC=26250;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.212121::-0.356121;Heart_Left_Ventricle=Heart_Left_Ventricle::0.213235::-0.236422;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.307915;ALLELE_END GT 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 +19 47258842 rs2287717 C T 100 PASS AC=32;AF=0.15016;AN=214;NS=2504;DP=13153;EAS_AF=0.1319;AMR_AF=0.1311;AFR_AF=0.1664;EUR_AF=0.1431;SAS_AF=0.1677;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A;1000g2015aug_all=0.15016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2287717;CLNALLELEID=101999;CLNDN=Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1418;ExAC_nontcga_ALL=0.1701;ExAC_nontcga_AFR=0.1799;ExAC_nontcga_AMR=0.1706;ExAC_nontcga_EAS=0.1536;ExAC_nontcga_FIN=0.1612;ExAC_nontcga_NFE=0.1644;ExAC_nontcga_OTH=0.1798;ExAC_nontcga_SAS=0.1904;AF=0.1380;AF_popmax=0.1499;AF_male=0.1368;AF_female=0.1394;AF_raw=0.1382;AF_afr=0.1499;AF_sas=.;AF_amr=0.1312;AF_eas=0.1212;AF_nfe=0.1365;AF_fin=0.1277;AF_asj=0.1379;AF_oth=0.1262;non_topmed_AF_popmax=0.1504;non_neuro_AF_popmax=0.1606;non_cancer_AF_popmax=.;controls_AF_popmax=0.1619;Kaviar_AF=0.133756;Kaviar_AC=20679;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.11553::0.290845;Heart_Left_Ventricle=Heart_Left_Ventricle::0.139706::0.211919;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.335022;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 +19 47258956 rs149030303 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=10887;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C249T:p.A83A,FKRP:NM_024301:exon4:c.C249T:p.A83A;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149030303;CLNALLELEID=102001;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0163;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0261;ExAC_nontcga_NFE=0.0225;ExAC_nontcga_OTH=0.0161;ExAC_nontcga_SAS=0.0206;AF=0.0092;AF_popmax=0.0135;AF_male=0.0090;AF_female=0.0094;AF_raw=0.0092;AF_afr=0.0023;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0138;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.529250;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47259048 rs143793528 C G 100 PASS AC=9;AF=0.0061901;AN=214;NS=2504;DP=10487;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C341G:p.A114G,FKRP:NM_024301:exon4:c.C341G:p.A114G;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143793528;CLNALLELEID=102002;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.319;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.436;LRT_pred=D;MutationTaster_score=0.893;MutationTaster_converted_rankscore=0.360;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.068;MetaSVM_score=0.924;MetaSVM_rankscore=0.960;MetaSVM_pred=D;MetaLR_score=0.904;MetaLR_rankscore=0.968;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.382;REVEL_rankscore=0.703;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.398;CADD_raw_rankscore=0.132;CADD_phred=6.593;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_rankscore=0.420;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.240;Eigen-PC-raw=-0.125;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=3.398;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.030;phastCons20way_mammalian_rankscore=0.147;SiPhy_29way_logOdds=12.451;SiPhy_29way_logOdds_rankscore=0.548;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0225;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0198;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0409;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0157;AF=0.0087;AF_popmax=0.0118;AF_male=0.0084;AF_female=0.0090;AF_raw=0.0087;AF_afr=0.0033;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0101;AF_asj=0.0172;AF_oth=0.0129;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.369872;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +19 47259134 rs148206382 C A 100 PASS AC=4;AF=0.00259585;AN=214;NS=2504;DP=9620;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C427A:p.R143S,FKRP:NM_024301:exon4:c.C427A:p.R143S;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148206382;CLNALLELEID=134503;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.576;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_rankscore=0.274;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.434;LRT_pred=D;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.394;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.75;PROVEAN_converted_rankscore=0.414;PROVEAN_pred=N;VEST3_score=0.755;VEST3_rankscore=0.762;MetaSVM_score=0.868;MetaSVM_rankscore=0.953;MetaSVM_pred=D;MetaLR_score=0.899;MetaLR_rankscore=0.967;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.689;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.067;CADD_raw_rankscore=0.196;CADD_phred=11.04;DANN_score=0.967;DANN_rankscore=0.304;fathmm-MKL_coding_score=0.674;fathmm-MKL_coding_rankscore=0.332;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.315;Eigen-PC-raw=-0.267;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.370;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.6;GERP++_RS_rankscore=0.402;phyloP100way_vertebrate=1.556;phyloP100way_vertebrate_rankscore=0.357;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=0.065;phastCons100way_vertebrate_rankscore=0.217;phastCons20way_mammalian=0.395;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=9.116;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0429;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0077;AF=0.0030;AF_popmax=0.0048;AF_male=0.0027;AF_female=0.0033;AF_raw=0.0030;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0048;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0029;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.256031;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47259488 rs561169991 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=7066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.G781A:p.G261R,FKRP:NM_024301:exon4:c.G781A:p.G261R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561169991;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.359;SIFT_converted_rankscore=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.068;LRT_converted_rankscore=0.217;LRT_pred=N;MutationTaster_score=0.835;MutationTaster_converted_rankscore=0.350;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-5.82;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=1.45;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.429;VEST3_rankscore=0.485;MetaSVM_score=1.006;MetaSVM_rankscore=0.973;MetaSVM_pred=D;MetaLR_score=0.895;MetaLR_rankscore=0.965;MetaLR_pred=D;M-CAP_score=0.910;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=0.231;MutPred_rankscore=0.159;CADD_raw=1.329;CADD_raw_rankscore=0.224;CADD_phred=12.42;DANN_score=0.954;DANN_rankscore=0.262;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.654;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.326;Eigen-PC-raw=-0.174;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.16;GERP++_RS_rankscore=0.480;phyloP100way_vertebrate=5.078;phyloP100way_vertebrate_rankscore=0.640;phyloP20way_mammalian=0.824;phyloP20way_mammalian_rankscore=0.337;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=15.372;SiPhy_29way_logOdds_rankscore=0.742;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.216862;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49661112 rs3760663 G A 100 PASS AC=61;AF=0.150359;AN=214;NS=2504;DP=9583;EAS_AF=0.0565;AMR_AF=0.1542;AFR_AF=0.0378;EUR_AF=0.2674;SAS_AF=0.2761;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.-10479G>A\x3bNM_001321285:c.-13555G>A\x3bNM_001321281:c.-12G>A\x3bNM_001321282:c.-25223G>A\x3bNM_001195227:c.-12G>A\x3bNM_017636:c.-12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.150359;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3760663;CLNALLELEID=257190;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2943;ExAC_nontcga_AFR=0.0942;ExAC_nontcga_AMR=0.2222;ExAC_nontcga_EAS=0.1149;ExAC_nontcga_FIN=0.3;ExAC_nontcga_NFE=0.3047;ExAC_nontcga_OTH=0.2097;ExAC_nontcga_SAS=0.3208;AF=0.2075;AF_popmax=0.2865;AF_male=0.2036;AF_female=0.2125;AF_raw=0.2079;AF_afr=0.0676;AF_sas=.;AF_amr=0.1619;AF_eas=0.0564;AF_nfe=0.2865;AF_fin=0.2759;AF_asj=0.2586;AF_oth=0.2316;non_topmed_AF_popmax=0.2837;non_neuro_AF_popmax=0.2873;non_cancer_AF_popmax=.;controls_AF_popmax=0.2814;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.751585;ALLELE_END GT 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|1 1|1 1|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 1|0 +19 49661274 rs527394365 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527394365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.772546;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49661547 rs11882563 A G 100 PASS AC=29;AF=0.223642;AN=214;NS=2504;DP=14018;EAS_AF=0.2163;AMR_AF=0.2651;AFR_AF=0.3359;EUR_AF=0.1372;SAS_AF=0.1391;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11882563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1345;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.3100;ExAC_nontcga_AMR=0.3512;ExAC_nontcga_EAS=0.2369;ExAC_nontcga_FIN=0.1455;ExAC_nontcga_NFE=0.1416;ExAC_nontcga_OTH=0.1488;ExAC_nontcga_SAS=0.1398;AF=0.1923;AF_popmax=0.3070;AF_male=0.1933;AF_female=0.1909;AF_raw=0.1922;AF_afr=0.3070;AF_sas=.;AF_amr=0.3002;AF_eas=0.2283;AF_nfe=0.1320;AF_fin=0.1452;AF_asj=0.1241;AF_oth=0.1624;non_topmed_AF_popmax=0.3069;non_neuro_AF_popmax=0.3185;non_cancer_AF_popmax=.;controls_AF_popmax=0.3146;Kaviar_AF=0.173814;Kaviar_AC=26872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.598376;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +19 49661582 rs3760664 T C 100 PASS AC=180;AF=0.599441;AN=214;NS=2504;DP=13894;EAS_AF=0.3175;AMR_AF=0.6715;AFR_AF=0.5514;EUR_AF=0.8579;SAS_AF=0.638;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3760664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8564;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7562;AF_popmax=0.8594;AF_male=0.7509;AF_female=0.7627;AF_raw=0.7549;AF_afr=0.6000;AF_sas=.;AF_amr=0.7220;AF_eas=0.3403;AF_nfe=0.8594;AF_fin=0.8625;AF_asj=0.8172;AF_oth=0.8002;non_topmed_AF_popmax=0.8613;non_neuro_AF_popmax=0.8582;non_cancer_AF_popmax=.;controls_AF_popmax=0.8579;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.199773;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 +19 49669486 rs113040724 C G 100 PASS AC=1;AF=0.0319489;AN=214;NS=2504;DP=11884;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0832;EUR_AF=0.003;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113040724;CLNALLELEID=334051;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0218;ExAC_nontcga_AFR=0.1025;ExAC_nontcga_AMR=0.0223;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0085;ExAC_nontcga_SAS=0.0456;AF=0.0196;AF_popmax=0.0656;AF_male=0.0204;AF_female=0.0186;AF_raw=0.0197;AF_afr=0.0656;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0103;AF_oth=0.0101;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0648;non_cancer_AF_popmax=.;controls_AF_popmax=0.0684;Kaviar_AF=0.0104074;Kaviar_AC=1609;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0113636::1.0178;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0147059::1.15294;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.912389;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671118 rs113428020 C T 100 PASS AC=1;AF=0.0207668;AN=214;NS=2504;DP=17367;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0673;EUR_AF=0.003;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113428020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.722e-05;AF_popmax=0.0003;AF_male=6.042e-05;AF_female=7.573e-05;AF_raw=0.0002;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671151 rs68004247 G A 100 PASS AC=72;AF=0.338858;AN=214;NS=2504;DP=17844;EAS_AF=0.2212;AMR_AF=0.2334;AFR_AF=0.416;EUR_AF=0.33;SAS_AF=0.4397;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.338858;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68004247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3301;ExAC_nontcga_ALL=0.3322;ExAC_nontcga_AFR=0.4160;ExAC_nontcga_AMR=0.2037;ExAC_nontcga_EAS=0.2238;ExAC_nontcga_FIN=0.3022;ExAC_nontcga_NFE=0.3313;ExAC_nontcga_OTH=0.3271;ExAC_nontcga_SAS=0.4408;AF=0.1512;AF_popmax=0.2288;AF_male=0.1558;AF_female=0.1455;AF_raw=0.1151;AF_afr=0.2288;AF_sas=.;AF_amr=0.0928;AF_eas=0.0977;AF_nfe=0.1345;AF_fin=0.1065;AF_asj=0.2941;AF_oth=0.1096;non_topmed_AF_popmax=0.2292;non_neuro_AF_popmax=0.2316;non_cancer_AF_popmax=.;controls_AF_popmax=0.2179;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 0|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 +19 49671207 rs113984787 G A 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=16487;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113984787;CLNALLELEID=222811;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.358;SIFT_converted_rankscore=0.125;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.333;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=-0.665;MutationAssessor_score_rankscore=0.020;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=0.7;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.022;VEST3_rankscore=0.008;MetaSVM_score=-0.895;MetaSVM_rankscore=0.485;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.030;REVEL_rankscore=0.073;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.454;CADD_raw_rankscore=0.138;CADD_phred=7.068;DANN_score=0.954;DANN_rankscore=0.263;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.035;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.251;Eigen-PC-raw=-1.130;GenoCanyon_score=0.979;GenoCanyon_score_rankscore=0.300;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.27;GERP++_RS_rankscore=0.274;phyloP100way_vertebrate=0.266;phyloP100way_vertebrate_rankscore=0.182;phyloP20way_mammalian=-0.166;phyloP20way_mammalian_rankscore=0.106;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.892;phastCons20way_mammalian_rankscore=0.376;SiPhy_29way_logOdds=7.937;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=.;GTEx_V6p_gene=ENSG00000130529.11;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0155;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0219;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0094;AF_popmax=0.0115;AF_male=0.0093;AF_female=0.0096;AF_raw=0.0093;AF_afr=0.0063;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0141;AF_asj=0.0143;AF_oth=0.0105;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0197151;Kaviar_AC=3048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.049363;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671212 rs111783027 T G 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=16239;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.T306G:p.V102V,TRPM4:NM_017636:exon4:c.T306G:p.V102V;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111783027;CLNALLELEID=222812;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0155;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0219;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0094;AF_popmax=0.0114;AF_male=0.0093;AF_female=0.0095;AF_raw=0.0093;AF_afr=0.0063;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0141;AF_asj=0.0143;AF_oth=0.0105;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0201;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.096345;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671281 rs34333830 G A 100 PASS AC=12;AF=0.0910543;AN=214;NS=2504;DP=13241;EAS_AF=0.1617;AMR_AF=0.0346;AFR_AF=0.0885;EUR_AF=0.0497;SAS_AF=0.1043;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G375A:p.S125S,TRPM4:NM_017636:exon4:c.G375A:p.S125S;1000g2015aug_all=0.0910543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34333830;CLNALLELEID=334052;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0423;ExAC_nontcga_ALL=0.0638;ExAC_nontcga_AFR=0.0831;ExAC_nontcga_AMR=0.0403;ExAC_nontcga_EAS=0.1582;ExAC_nontcga_FIN=0.0309;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0621;ExAC_nontcga_SAS=0.0819;AF=0.0582;AF_popmax=0.1617;AF_male=0.0613;AF_female=0.0544;AF_raw=0.0584;AF_afr=0.0800;AF_sas=.;AF_amr=0.0532;AF_eas=0.1617;AF_nfe=0.0406;AF_fin=0.0328;AF_asj=0.1552;AF_oth=0.0460;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1617;non_cancer_AF_popmax=.;controls_AF_popmax=0.1553;Kaviar_AF=0.060355;Kaviar_AC=9331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.429518;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671482 rs143719682 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15801;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143719682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0053;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0022;AF=0.0024;AF_popmax=0.0039;AF_male=0.0025;AF_female=0.0022;AF_raw=0.0024;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0009;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0033764;Kaviar_AC=522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671507 rs78444754 G A 100 PASS AC=2;AF=0.0119808;AN=214;NS=2504;DP=16542;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0239;SAS_AF=0.0327;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78444754;CLNALLELEID=243373;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0257;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0087;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0283;ExAC_nontcga_NFE=0.0227;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0347;AF=0.0201;AF_popmax=0.0294;AF_male=0.0188;AF_female=0.0218;AF_raw=0.0202;AF_afr=0.0048;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0294;AF_fin=0.0271;AF_asj=0.0138;AF_oth=0.0277;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0295;non_cancer_AF_popmax=.;controls_AF_popmax=0.0316;Kaviar_AF=0.0203814;Kaviar_AC=3151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.899522;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671771 rs113159745 C T 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=14424;EAS_AF=0.003;AMR_AF=0.0101;AFR_AF=0.0129;EUR_AF=0.0189;SAS_AF=0.0348;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113159745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0149;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0361;ExAC_nontcga_NFE=0.0221;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0243;AF_popmax=0.0315;AF_male=0.0235;AF_female=0.0254;AF_raw=0.0244;AF_afr=0.0129;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0315;AF_fin=0.0349;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0372;non_neuro_AF_popmax=0.0330;non_cancer_AF_popmax=.;controls_AF_popmax=0.0578;Kaviar_AF=0.0199027;Kaviar_AC=3077;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671893 rs201198341 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15391;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321281:exon4:c.C351T:p.F117F,TRPM4:NM_001321283:exon4:c.C174T:p.F58F,TRPM4:NM_001195227:exon6:c.C696T:p.F232F,TRPM4:NM_017636:exon6:c.C696T:p.F232F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201198341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.469685;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671980 rs111930830 G A 100 PASS AC=6;AF=0.0157748;AN=214;NS=2504;DP=11500;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321281:exon4:c.G438A:p.K146K,TRPM4:NM_001321283:exon4:c.G261A:p.K87K,TRPM4:NM_001195227:exon6:c.G783A:p.K261K,TRPM4:NM_017636:exon6:c.G783A:p.K261K;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111930830;CLNALLELEID=222814;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0408;ExAC_nontcga_AFR=0.0293;ExAC_nontcga_AMR=0.0188;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.0443;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0482;AF=0.0245;AF_popmax=0.0313;AF_male=0.0237;AF_female=0.0255;AF_raw=0.0246;AF_afr=0.0139;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0313;AF_fin=0.0349;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0370;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0187643;Kaviar_AC=2901;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.145692;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49674722 rs113664674 G A 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=14229;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113664674;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0128;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0058;AF_popmax=0.0081;AF_male=0.0059;AF_female=0.0057;AF_raw=0.0058;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0121;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.0058343;Kaviar_AC=902;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49674846 rs141997826 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17286;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon5:c.C21T:p.N7N,TRPM4:NM_001321281:exon6:c.C525T:p.N175N,TRPM4:NM_001321283:exon6:c.C348T:p.N116N,TRPM4:NM_001195227:exon8:c.C870T:p.N290N,TRPM4:NM_017636:exon8:c.C870T:p.N290N;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141997826;CLNALLELEID=377819;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0003;AF=0.0048;AF_popmax=0.0073;AF_male=0.0042;AF_female=0.0055;AF_raw=0.0048;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0083;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0102;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.454331;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +19 49675017 rs61732831 G T 100 PASS AC=10;AF=0.0597045;AN=214;NS=2504;DP=15276;EAS_AF=0.1617;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0417;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon5:c.G192T:p.L64L,TRPM4:NM_001321281:exon6:c.G696T:p.L232L,TRPM4:NM_001321283:exon6:c.G519T:p.L173L,TRPM4:NM_001195227:exon8:c.G1041T:p.L347L,TRPM4:NM_017636:exon8:c.G1041T:p.L347L;1000g2015aug_all=0.0597045;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61732831;CLNALLELEID=334064;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0372;ExAC_nontcga_ALL=0.0516;ExAC_nontcga_AFR=0.0074;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.1600;ExAC_nontcga_FIN=0.0338;ExAC_nontcga_NFE=0.0460;ExAC_nontcga_OTH=0.0509;ExAC_nontcga_SAS=0.0596;AF=0.0353;AF_popmax=0.1591;AF_male=0.0378;AF_female=0.0323;AF_raw=0.0354;AF_afr=0.0068;AF_sas=.;AF_amr=0.0401;AF_eas=0.1591;AF_nfe=0.0382;AF_fin=0.0329;AF_asj=0.0759;AF_oth=0.0387;non_topmed_AF_popmax=0.1598;non_neuro_AF_popmax=0.1591;non_cancer_AF_popmax=.;controls_AF_popmax=0.1524;Kaviar_AF=0.0467782;Kaviar_AC=7232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.315756;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675038 rs137898843 G GGGGC 100 PASS AC=2;AF=0.0279553;AN=214;NS=2504;DP=15350;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0915;EUR_AF=0.005;SAS_AF=0.002;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137898843;CLNALLELEID=334065;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0827;ExAC_nontcga_AMR=0.0101;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0066;ExAC_nontcga_SAS=0.0005;AF=0.0218;AF_popmax=0.0739;AF_male=0.0230;AF_female=0.0203;AF_raw=0.0219;AF_afr=0.0739;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0741;non_neuro_AF_popmax=0.0705;non_cancer_AF_popmax=.;controls_AF_popmax=0.0717;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.801509;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675233 rs2287923 C T 100 PASS AC=12;AF=0.0914537;AN=214;NS=2504;DP=17872;EAS_AF=0.1617;AMR_AF=0.0418;AFR_AF=0.1059;EUR_AF=0.0487;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0914537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2287923;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0421;ExAC_nontcga_ALL=0.0619;ExAC_nontcga_AFR=0.1131;ExAC_nontcga_AMR=0.0415;ExAC_nontcga_EAS=0.1545;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0494;ExAC_nontcga_OTH=0.0551;ExAC_nontcga_SAS=0.0584;AF=0.0667;AF_popmax=0.1579;AF_male=0.0709;AF_female=0.0613;AF_raw=0.0667;AF_afr=0.1114;AF_sas=.;AF_amr=0.0519;AF_eas=0.1579;AF_nfe=0.0406;AF_fin=0.0329;AF_asj=0.1552;AF_oth=0.0434;non_topmed_AF_popmax=0.1585;non_neuro_AF_popmax=0.1579;non_cancer_AF_popmax=.;controls_AF_popmax=0.1516;Kaviar_AF=0.0578259;Kaviar_AC=8940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675366 rs200132598 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18131;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:exon7:c.628+1G>A\x3bNM_001321281:exon7:c.805+1G>A\x3bNM_001321282:exon8:UTR5\x3bNM_001195227:exon9:c.1150+1G>A\x3bNM_017636:exon9:c.1150+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200132598;CLNALLELEID=513378;CLNDN=Progressive_familial_heart_block_type_1B|not_provided;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.520;CADD_raw_rankscore=0.605;CADD_phred=24.3;DANN_score=0.994;DANN_rankscore=0.609;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.929;Eigen-PC-raw=0.719;GenoCanyon_score=0.473;GenoCanyon_score_rankscore=0.207;integrated_fitCons_score=0.099;integrated_fitCons_score_rankscore=0.020;integrated_confidence_value=0;GERP++_RS=3.92;GERP++_RS_rankscore=0.444;phyloP100way_vertebrate=2.407;phyloP100way_vertebrate_rankscore=0.440;phyloP20way_mammalian=0.882;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.935;phastCons20way_mammalian_rankscore=0.408;SiPhy_29way_logOdds=13.313;SiPhy_29way_logOdds_rankscore=0.597;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.936;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.192e-05;AF_popmax=6.493e-05;AF_male=0;AF_female=7.199e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.493e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.216093;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675439 rs559459336 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18902;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559459336;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0012;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675456 rs74599428 C T 100 PASS AC=6;AF=0.00599042;AN=214;NS=2504;DP=19251;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0189;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74599428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0212;AF_popmax=0.0317;AF_male=0.0201;AF_female=0.0226;AF_raw=0.0214;AF_afr=0.0025;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0317;AF_fin=0.0343;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.0376;non_neuro_AF_popmax=0.0331;non_cancer_AF_popmax=.;controls_AF_popmax=0.0584;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49684586 rs11668638 T A 100 PASS AC=5;AF=0.0145767;AN=214;NS=2504;DP=16021;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0008;EUR_AF=0.0537;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11668638;CLNALLELEID=376628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0581;ExAC_nontcga_ALL=0.0372;ExAC_nontcga_AFR=0.0091;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0638;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0075;AF=0.0438;AF_popmax=0.0642;AF_male=0.0436;AF_female=0.0440;AF_raw=0.0440;AF_afr=0.0093;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0642;AF_fin=0.0608;AF_asj=0.0382;AF_oth=0.0564;non_topmed_AF_popmax=0.0657;non_neuro_AF_popmax=0.0639;non_cancer_AF_popmax=.;controls_AF_popmax=0.0663;Kaviar_AF=0.0405752;Kaviar_AC=6273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.03125::0.616075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49684787 rs553474484 CTTTTTTTTTT C 100 PASS AC=6;AF=0.0181709;AN=214;NS=2504;DP=15573;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.028;EUR_AF=0.0189;SAS_AF=0.0276;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553474484;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0304;AF_popmax=0.0367;AF_male=0.0288;AF_female=0.0326;AF_raw=0.0224;AF_afr=0.0142;AF_sas=.;AF_amr=0.0122;AF_eas=0.0009;AF_nfe=0.0367;AF_fin=0.0989;AF_asj=0.0057;AF_oth=0.0356;non_topmed_AF_popmax=0.0471;non_neuro_AF_popmax=0.0364;non_cancer_AF_popmax=.;controls_AF_popmax=0.0783;Kaviar_AF=0.0026126;Kaviar_AC=68;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49685794 rs146679897 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23820;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146679897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49685865 rs201907325 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20822;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon6:c.G232A:p.A78T,TRPM4:NM_001321281:exon9:c.G949A:p.A317T,TRPM4:NM_001321283:exon9:c.G772A:p.A258T,TRPM4:NM_001195227:exon11:c.G1294A:p.A432T,TRPM4:NM_017636:exon11:c.G1294A:p.A432T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201907325;CLNALLELEID=44160;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.832;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.252;Polyphen2_HVAR_rankscore=0.688;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=3.75;MutationAssessor_score_rankscore=0.951;MutationAssessor_pred=H;FATHMM_score=-3.65;FATHMM_converted_rankscore=0.952;FATHMM_pred=D;PROVEAN_score=-3.73;PROVEAN_converted_rankscore=0.709;PROVEAN_pred=D;VEST3_score=0.931;VEST3_rankscore=0.924;MetaSVM_score=1.061;MetaSVM_rankscore=0.984;MetaSVM_pred=D;MetaLR_score=0.917;MetaLR_rankscore=0.972;MetaLR_pred=D;M-CAP_score=0.441;M-CAP_rankscore=0.942;M-CAP_pred=D;REVEL_score=0.936;REVEL_rankscore=0.986;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.830;CADD_raw_rankscore=0.927;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.739;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.662;Eigen-PC-raw=0.584;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.350;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.18;GERP++_RS_rankscore=0.483;phyloP100way_vertebrate=5.062;phyloP100way_vertebrate_rankscore=0.639;phyloP20way_mammalian=1.027;phyloP20way_mammalian_rankscore=0.646;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=13.848;SiPhy_29way_logOdds_rankscore=0.628;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352157;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49686028 rs568416785 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=20690;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.0089;SAS_AF=0.0041;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TRPM4:NM_001321285:exon6:c.396_431del:p.132_144del,TRPM4:NM_001321281:exon9:c.1113_1148del:p.371_383del,TRPM4:NM_001321283:exon9:c.936_971del:p.312_324del,TRPM4:NM_001195227:exon11:c.1458_1493del:p.486_498del,TRPM4:NM_017636:exon11:c.1458_1493del:p.486_498del;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs878855029;CLNALLELEID=243379;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0080;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0110;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0.0059;AF=0.0070;AF_popmax=0.0112;AF_male=0.0072;AF_female=0.0069;AF_raw=0.0071;AF_afr=0.0020;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0063;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.200078,99.310502,99.196968,99.262524,99.302314;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49686146 rs71352737 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14381;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRPM4:NM_001321285:exon6:c.G513A:p.W171X,TRPM4:NM_001321281:exon9:c.G1230A:p.W410X,TRPM4:NM_001321283:exon9:c.G1053A:p.W351X,TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71352737;CLNALLELEID=243380;CLNDN=Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.169;CADD_raw_rankscore=0.851;CADD_phred=28.5;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.072;fathmm-MKL_coding_rankscore=0.131;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.053;Eigen-PC-raw=-0.370;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-0.786;GERP++_RS_rankscore=0.103;phyloP100way_vertebrate=0.670;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=0.143;phyloP20way_mammalian_rankscore=0.228;phastCons100way_vertebrate=0.010;phastCons100way_vertebrate_rankscore=0.182;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=4.739;SiPhy_29way_logOdds_rankscore=0.123;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0014;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0016;AF_raw=0.0014;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0013195;Kaviar_AC=204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.104700;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49691870 rs112004068 C T 100 PASS AC=3;AF=0.00878594;AN=214;NS=2504;DP=19121;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.0286;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112004068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0120;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0271;AF=0.0060;AF_popmax=0.0060;AF_male=0.0061;AF_female=0.0060;AF_raw=0.0060;AF_afr=0.0044;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0060;AF_fin=0.0092;AF_asj=0.0276;AF_oth=0.0138;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0078136;Kaviar_AC=1208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49691871 rs182984782 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19045;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182984782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0043;AF=0.0017;AF_popmax=0.0027;AF_male=0.0022;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0022251;Kaviar_AC=344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +19 49691898 rs172149856 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18948;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon8:c.G682A:p.G228S,TRPM4:NM_001321281:exon11:c.G1399A:p.G467S,TRPM4:NM_001321283:exon11:c.G1222A:p.G408S,TRPM4:NM_001321282:exon12:c.G136A:p.G46S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,TRPM4:NM_017636:exon13:c.G1744A:p.G582S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs172149856;CLNALLELEID=44159;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.54;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.404;Polyphen2_HDIV_rankscore=0.331;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.141;Polyphen2_HVAR_rankscore=0.346;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.308;LRT_pred=N;MutationTaster_score=0.874;MutationTaster_converted_rankscore=0.307;MutationTaster_pred=N;MutationAssessor_score=2.26;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=-0.69;FATHMM_converted_rankscore=0.727;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.829;MetaSVM_score=-0.521;MetaSVM_rankscore=0.679;MetaSVM_pred=T;MetaLR_score=0.278;MetaLR_rankscore=0.650;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.675;M-CAP_pred=D;REVEL_score=0.346;REVEL_rankscore=0.671;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.616;CADD_raw_rankscore=0.376;CADD_phred=20.3;DANN_score=0.981;DANN_rankscore=0.379;fathmm-MKL_coding_score=0.849;fathmm-MKL_coding_rankscore=0.437;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.047;Eigen-PC-raw=0.022;GenoCanyon_score=0.046;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=4.467;phyloP100way_vertebrate_rankscore=0.596;phyloP20way_mammalian=1.030;phyloP20way_mammalian_rankscore=0.653;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.715;phastCons20way_mammalian_rankscore=0.313;SiPhy_29way_logOdds=11.838;SiPhy_29way_logOdds_rankscore=0.514;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0689;dbscSNV_RF_SCORE=0.292;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005239;Kaviar_AC=81;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.382074;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49692171 rs201510836 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19236;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201510836;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49692373 rs1175791 C G 100 PASS AC=64;AF=0.34365;AN=214;NS=2504;DP=17246;EAS_AF=0.247;AMR_AF=0.2507;AFR_AF=0.4539;EUR_AF=0.325;SAS_AF=0.3793;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1175791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3220;ExAC_nontcga_ALL=0.3216;ExAC_nontcga_AFR=0.4436;ExAC_nontcga_AMR=0.2204;ExAC_nontcga_EAS=0.2581;ExAC_nontcga_FIN=0.2679;ExAC_nontcga_NFE=0.3180;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.3886;AF=0.3298;AF_popmax=0.4435;AF_male=0.3318;AF_female=0.3273;AF_raw=0.3303;AF_afr=0.4435;AF_sas=.;AF_amr=0.2459;AF_eas=0.2490;AF_nfe=0.2948;AF_fin=0.2723;AF_asj=0.3724;AF_oth=0.2694;non_topmed_AF_popmax=0.4426;non_neuro_AF_popmax=0.4518;non_cancer_AF_popmax=.;controls_AF_popmax=0.4503;Kaviar_AF=0.312984;Kaviar_AC=48388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 +19 49694029 rs145847114 G A 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=18239;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0112;AA=N|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon11:c.G1147A:p.G383R,TRPM4:NM_001321281:exon14:c.G1864A:p.G622R,TRPM4:NM_001321283:exon14:c.G1687A:p.G563R,TRPM4:NM_001321282:exon15:c.G601A:p.G201R,TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,TRPM4:NM_017636:exon16:c.G2209A:p.G737R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145847114;CLNALLELEID=471078;CLNDN=Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.351;SIFT_converted_rankscore=0.315;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=B;LRT_score=0.559;LRT_converted_rankscore=0.113;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=1.215;MutationAssessor_score_rankscore=0.307;MutationAssessor_pred=L;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=-0.86;PROVEAN_converted_rankscore=0.234;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.041;MetaSVM_score=-0.784;MetaSVM_rankscore=0.561;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.018;CADD_raw_rankscore=0.031;CADD_phred=0.015;DANN_score=0.390;DANN_rankscore=0.026;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.036;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.654;Eigen-PC-raw=-1.802;GenoCanyon_score=0.074;GenoCanyon_score_rankscore=0.157;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-7.16;GERP++_RS_rankscore=0.014;phyloP100way_vertebrate=-0.841;phyloP100way_vertebrate_rankscore=0.044;phyloP20way_mammalian=-1.500;phyloP20way_mammalian_rankscore=0.010;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.016;phastCons20way_mammalian_rankscore=0.126;SiPhy_29way_logOdds=5.659;SiPhy_29way_logOdds_rankscore=0.168;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0076;AF=0.0017;AF_popmax=0.0035;AF_male=0.0016;AF_female=0.0018;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019663;Kaviar_AC=304;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662850;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +19 49699866 rs3745301 C T 100 PASS AC=16;AF=0.11242;AN=214;NS=2504;DP=12696;EAS_AF=0.1875;AMR_AF=0.0648;AFR_AF=0.1384;EUR_AF=0.0577;SAS_AF=0.09;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon12:c.C1318T:p.L440L,TRPM4:NM_001321281:exon15:c.C2035T:p.L679L,TRPM4:NM_001321283:exon15:c.C1858T:p.L620L,TRPM4:NM_001321282:exon16:c.C772T:p.L258L,TRPM4:NM_017636:exon17:c.C2380T:p.L794L;1000g2015aug_all=0.11242;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3745301;CLNALLELEID=350218;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.1033;ExAC_nontcga_AFR=0.1391;ExAC_nontcga_AMR=0.1508;ExAC_nontcga_EAS=0.3139;ExAC_nontcga_FIN=0.1358;ExAC_nontcga_NFE=0.1031;ExAC_nontcga_OTH=0.0662;ExAC_nontcga_SAS=0.0640;AF=0.0741;AF_popmax=0.1860;AF_male=0.0783;AF_female=0.0689;AF_raw=0.0743;AF_afr=0.1208;AF_sas=.;AF_amr=0.0778;AF_eas=0.1860;AF_nfe=0.0464;AF_fin=0.0337;AF_asj=0.1379;AF_oth=0.0450;non_topmed_AF_popmax=0.1854;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1850;Kaviar_AF=0.0482982;Kaviar_AC=7467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000101|hsa-miR-103a-3p|Experimental,MIMAT0000104|hsa-miR-107|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.734596;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49700017 rs200038418 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=11065;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon12:c.G1469A:p.G490D,TRPM4:NM_001321281:exon15:c.G2186A:p.G729D,TRPM4:NM_001321283:exon15:c.G2009A:p.G670D,TRPM4:NM_001321282:exon16:c.G923A:p.G308D,TRPM4:NM_017636:exon17:c.G2531A:p.G844D;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200038418;CLNALLELEID=44162;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.918;Polyphen2_HDIV_rankscore=0.488;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.604;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=0.4;FATHMM_converted_rankscore=0.573;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.749;VEST3_rankscore=0.744;MetaSVM_score=-0.861;MetaSVM_rankscore=0.512;MetaSVM_pred=T;MetaLR_score=0.162;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=0.029;M-CAP_rankscore=0.518;M-CAP_pred=D;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.333;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.996;DANN_rankscore=0.725;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.321;Eigen-PC-raw=-0.482;GenoCanyon_score=0.040;GenoCanyon_score_rankscore=0.144;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-1.59;GERP++_RS_rankscore=0.080;phyloP100way_vertebrate=0.108;phyloP100way_vertebrate_rankscore=0.151;phyloP20way_mammalian=0.006;phyloP20way_mammalian_rankscore=0.137;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.087;phastCons20way_mammalian_rankscore=0.184;SiPhy_29way_logOdds=11.559;SiPhy_29way_logOdds_rankscore=0.498;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.390722;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49703799 rs182435716 T G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=10669;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182435716;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0063;AF_male=0.0048;AF_female=0.0050;AF_raw=0.0049;AF_afr=0.0007;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0090;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49713732 rs192781092 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49714732 rs7256050 C G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49714839 rs192428881 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +19 49714878 rs554934250 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16127;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.*123T>A\x3bNM_001321285:c.*123T>A\x3bNM_001321281:c.*123T>A\x3bNM_001321282:c.*123T>A\x3bNM_001195227:c.*123T>A\x3bNM_017636:c.*123T>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554934250;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000592527|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55665349 rs142495802 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15937;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142495802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0047;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012807;Kaviar_AC=198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55665410 rs3729841 C T 100 PASS AC=20;AF=0.0477236;AN=214;NS=2504;DP=16122;EAS_AF=0.0565;AMR_AF=0.0346;AFR_AF=0.003;EUR_AF=0.0626;SAS_AF=0.093;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729841;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0658;ExAC_nontcga_ALL=0.0661;ExAC_nontcga_AFR=0.0120;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0.0433;ExAC_nontcga_FIN=0.0631;ExAC_nontcga_NFE=0.0724;ExAC_nontcga_OTH=0.0933;ExAC_nontcga_SAS=0.1065;AF=0.0484;AF_popmax=0.0644;AF_male=0.0474;AF_female=0.0496;AF_raw=0.0488;AF_afr=0.0117;AF_sas=.;AF_amr=0.0425;AF_eas=0.0474;AF_nfe=0.0644;AF_fin=0.0600;AF_asj=0.0793;AF_oth=0.0756;non_topmed_AF_popmax=0.0648;non_neuro_AF_popmax=0.0629;non_cancer_AF_popmax=.;controls_AF_popmax=0.0604;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.946490;ALLELE_END GT 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55665584 rs7252610 A C 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18442;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7252610;CLNALLELEID=45542;CLNDN=Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0052;dbscSNV_RF_SCORE=0.15;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9998;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938261;Kaviar_AC=145057;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026301|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.896030;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +19 55666036 rs577443061 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18737;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577443061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026302|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.325848;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +19 55666281 rs571949023 C G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14157;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571949023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0043;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0004;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026302|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55667500 rs2288528 A T 100 PASS AC=1;AF=0.137181;AN=214;NS=2504;DP=11055;EAS_AF=0.2034;AMR_AF=0.2651;AFR_AF=0.0877;EUR_AF=0.0159;SAS_AF=0.1697;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137181;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288528;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0566;AF_popmax=0.2991;AF_male=0.0586;AF_female=0.0540;AF_raw=0.0565;AF_afr=0.0637;AF_sas=.;AF_amr=0.2991;AF_eas=0.2099;AF_nfe=0.0280;AF_fin=0.0354;AF_asj=0.0483;AF_oth=0.0655;non_topmed_AF_popmax=0.3045;non_neuro_AF_popmax=0.2653;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.735592;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +19 55667647 rs3729711 C A 100 PASS AC=21;AF=0.0227636;AN=214;NS=2504;DP=9750;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0023;EUR_AF=0.0696;SAS_AF=0.0215;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0227636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729711;CLNALLELEID=52536;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.843;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.934;DANN_rankscore=0.226;fathmm-MKL_coding_score=0.656;fathmm-MKL_coding_rankscore=0.325;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.792;Eigen-PC-raw=2.563;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=2.15;GERP++_RS_rankscore=0.265;phyloP100way_vertebrate=0.100;phyloP100way_vertebrate_rankscore=0.150;phyloP20way_mammalian=0.024;phyloP20way_mammalian_rankscore=0.147;phastCons100way_vertebrate=0.072;phastCons100way_vertebrate_rankscore=0.219;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=3.418;SiPhy_29way_logOdds_rankscore=0.069;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0505;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0147;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0951;ExAC_nontcga_NFE=0.0653;ExAC_nontcga_OTH=0.0484;ExAC_nontcga_SAS=0.0237;AF=0.0419;AF_popmax=0.0549;AF_male=0.0391;AF_female=0.0455;AF_raw=0.0419;AF_afr=0.0096;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0549;AF_fin=0.0882;AF_asj=0.0276;AF_oth=0.0414;non_topmed_AF_popmax=0.0568;non_neuro_AF_popmax=0.0534;non_cancer_AF_popmax=.;controls_AF_popmax=0.0527;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.960088;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +19 55667871 rs547135585 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11177;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547135585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.573e-05;AF_popmax=6.494e-05;AF_male=0.0001;AF_female=7.193e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR,OREG1909172|N/A|STAT1|PAZAR,OREG0396464|N/A|EGR1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.867355;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 55667958 rs73617692 C T 100 PASS AC=2;AF=0.076877;AN=214;NS=2504;DP=12499;EAS_AF=0.005;AMR_AF=0.0375;AFR_AF=0.261;EUR_AF=0.005;SAS_AF=0.0041;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73617692;CLNALLELEID=52532;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0417;ExAC_nontcga_AFR=0.2938;ExAC_nontcga_AMR=0.0618;ExAC_nontcga_EAS=0.0081;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0069;ExAC_nontcga_SAS=0.0047;AF=0.0671;AF_popmax=0.2334;AF_male=0.0694;AF_female=0.0642;AF_raw=0.0672;AF_afr=0.2334;AF_sas=.;AF_amr=0.0189;AF_eas=0.0026;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.2329;non_neuro_AF_popmax=0.2425;non_cancer_AF_popmax=.;controls_AF_popmax=0.2412;Kaviar_AF=0.0168627;Kaviar_AC=2607;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.154740;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668105 rs545478703 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12250;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545478703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937105;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668116 rs559089270 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12221;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559089270;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.19e-05;AF_popmax=6.496e-05;AF_male=5.73e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.496e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.361e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855055;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668397 rs3729837 C T 100 PASS AC=20;AF=0.0477236;AN=214;NS=2504;DP=12057;EAS_AF=0.0565;AMR_AF=0.0346;AFR_AF=0.003;EUR_AF=0.0626;SAS_AF=0.093;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729837;CLNALLELEID=257236;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0622;ExAC_nontcga_ALL=0.1089;ExAC_nontcga_AFR=0.0170;ExAC_nontcga_AMR=0.0986;ExAC_nontcga_EAS=0.0498;ExAC_nontcga_FIN=0.1704;ExAC_nontcga_NFE=0.1308;ExAC_nontcga_OTH=0.1292;ExAC_nontcga_SAS=0.1215;AF=0.0488;AF_popmax=0.065;AF_male=0.0482;AF_female=0.0495;AF_raw=0.0489;AF_afr=0.0118;AF_sas=.;AF_amr=0.0426;AF_eas=0.0482;AF_nfe=0.065;AF_fin=0.0602;AF_asj=0.0793;AF_oth=0.0756;non_topmed_AF_popmax=0.0654;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0492814;Kaviar_AC=7619;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.853733;ALLELE_END GT 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55668509 rs3729836 A T 100 PASS AC=51;AF=0.458067;AN=214;NS=2504;DP=12544;EAS_AF=0.4395;AMR_AF=0.4337;AFR_AF=0.6899;EUR_AF=0.1909;SAS_AF=0.456;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.458067;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729836;CLNALLELEID=52541;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0021;dbscSNV_RF_SCORE=0.14;esp6500siv2_ea=0.1948;ExAC_nontcga_ALL=0.3622;ExAC_nontcga_AFR=0.6414;ExAC_nontcga_AMR=0.5772;ExAC_nontcga_EAS=0.4664;ExAC_nontcga_FIN=0.3017;ExAC_nontcga_NFE=0.2447;ExAC_nontcga_OTH=0.3610;ExAC_nontcga_SAS=0.4446;AF=0.3384;AF_popmax=0.6138;AF_male=0.3431;AF_female=0.3325;AF_raw=0.3387;AF_afr=0.6138;AF_sas=.;AF_amr=0.4303;AF_eas=0.4408;AF_nfe=0.1971;AF_fin=0.2349;AF_asj=0.2103;AF_oth=0.2943;non_topmed_AF_popmax=0.6148;non_neuro_AF_popmax=0.6156;non_cancer_AF_popmax=.;controls_AF_popmax=0.6215;Kaviar_AF=0.283651;Kaviar_AC=43853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869269;ALLELE_END GT 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 +19 55668819 rs11667847 A G 100 PASS AC=48;AF=0.247204;AN=214;NS=2504;DP=14846;EAS_AF=0.2321;AMR_AF=0.1311;AFR_AF=0.3525;EUR_AF=0.17;SAS_AF=0.2822;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11667847;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2176;AF_popmax=0.3268;AF_male=0.2178;AF_female=0.2173;AF_raw=0.2180;AF_afr=0.3268;AF_sas=.;AF_amr=0.1147;AF_eas=0.2270;AF_nfe=0.1668;AF_fin=0.1988;AF_asj=0.1586;AF_oth=0.2056;non_topmed_AF_popmax=0.3278;non_neuro_AF_popmax=0.3269;non_cancer_AF_popmax=.;controls_AF_popmax=0.3333;Kaviar_AF=0.0364032;Kaviar_AC=5628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0604679|N/A|ELF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.801440;ALLELE_END GT 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55668848 rs3729708 G C 100 PASS AC=25;AF=0.0716853;AN=214;NS=2504;DP=14761;EAS_AF=0.0298;AMR_AF=0.0576;AFR_AF=0.1596;EUR_AF=0.0656;SAS_AF=0.0123;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0716853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0679;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0832;AF_popmax=0.1520;AF_male=0.0834;AF_female=0.0831;AF_raw=0.0833;AF_afr=0.1520;AF_sas=.;AF_amr=0.0556;AF_eas=0.0451;AF_nfe=0.0613;AF_fin=0.0404;AF_asj=0.0655;AF_oth=0.0626;non_topmed_AF_popmax=0.1524;non_neuro_AF_popmax=0.1542;non_cancer_AF_popmax=.;controls_AF_popmax=0.1562;Kaviar_AF=0.0136674;Kaviar_AC=2113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.637312;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668992 rs3729707 G T 100 PASS AC=2;AF=0.076877;AN=214;NS=2504;DP=13541;EAS_AF=0.005;AMR_AF=0.0375;AFR_AF=0.261;EUR_AF=0.005;SAS_AF=0.0041;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-35C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729707;CLNALLELEID=141390;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0234;ExAC_nontcga_AFR=0.2400;ExAC_nontcga_AMR=0.0156;ExAC_nontcga_EAS=0.0024;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0052;AF=0.0669;AF_popmax=0.2326;AF_male=0.0694;AF_female=0.0636;AF_raw=0.0672;AF_afr=0.2326;AF_sas=.;AF_amr=0.0189;AF_eas=0.0026;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.2321;non_neuro_AF_popmax=0.2416;non_cancer_AF_popmax=.;controls_AF_popmax=0.2408;Kaviar_AF=0.0224318;Kaviar_AC=3468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.341289;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55669004 rs202159627 G A 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=13450;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-47C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202159627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0014;AF=0.0059;AF_popmax=0.0088;AF_male=0.0060;AF_female=0.0059;AF_raw=0.0059;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0088;AF_fin=0.0061;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.562649;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55669055 rs12973773 G T 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14305;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0031;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-98C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12973773;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0116;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0177;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0021;AF=0.0084;AF_popmax=0.0127;AF_male=0.0088;AF_female=0.0078;AF_raw=0.0084;AF_afr=0.0018;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0127;AF_fin=0.0084;AF_asj=0.0069;AF_oth=0.0119;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0132576::1.01683;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531250;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 2985808 rs558515255 T C 100 PASS AC=26;AF=0.0347444;AN=214;NS=2504;DP=3408;EAS_AF=0.0188;AMR_AF=0.0548;AFR_AF=0.034;EUR_AF=0.0616;SAS_AF=0.0102;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.-16T>C\x3bNM_199454:c.-16T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558515255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011255;Kaviar_AC=174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000000391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506430|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.562232;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 2985885 rs7413494 C G 100 PASS AC=75;AF=0.360224;AN=214;NS=2504;DP=2274;EAS_AF=0.5496;AMR_AF=0.5;AFR_AF=0.1188;EUR_AF=0.3887;SAS_AF=0.363;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7413494;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3766;ExAC_nontcga_ALL=0.4636;ExAC_nontcga_AFR=0.1854;ExAC_nontcga_AMR=0.6276;ExAC_nontcga_EAS=0.5980;ExAC_nontcga_FIN=0.5837;ExAC_nontcga_NFE=0.4487;ExAC_nontcga_OTH=0.4676;ExAC_nontcga_SAS=0.4062;AF=0.3460;AF_popmax=0.5742;AF_male=0.3407;AF_female=0.3530;AF_raw=0.3489;AF_afr=0.1557;AF_sas=.;AF_amr=0.5742;AF_eas=0.5561;AF_nfe=0.4221;AF_fin=0.5172;AF_asj=0.4265;AF_oth=0.4416;non_topmed_AF_popmax=0.5674;non_neuro_AF_popmax=0.5705;non_cancer_AF_popmax=.;controls_AF_popmax=0.6667;Kaviar_AF=0.340642;Kaviar_AC=52664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000000391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506430|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.516698;ALLELE_END GT 1|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|1 0|1 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 +1 3102751 rs187194973 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=16003;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G100A:p.A34T,PRDM16:NM_199454:exon2:c.G100A:p.A34T;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187194973;CLNALLELEID=228413;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.923;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.148;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.439;LRT_pred=U;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.369;MutationTaster_pred=D;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=1.51;FATHMM_converted_rankscore=0.309;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=-0.788;MetaSVM_rankscore=0.559;MetaSVM_pred=T;MetaLR_score=0.165;MetaLR_rankscore=0.504;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.714;M-CAP_pred=D;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.057;CADD_raw_rankscore=0.427;CADD_phred=22.4;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.599;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.195;Eigen-PC-raw=0.145;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=5.1;GERP++_RS_rankscore=0.688;phyloP100way_vertebrate=6.847;phyloP100way_vertebrate_rankscore=0.750;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.077;phastCons20way_mammalian_rankscore=0.179;SiPhy_29way_logOdds=18.512;SiPhy_29way_logOdds_rankscore=0.908;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0010;AF=0.0025;AF_popmax=0.0036;AF_male=0.0022;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0040;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0036;Kaviar_AF=0.0020504;Kaviar_AC=317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609489;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3102852 rs199614349 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=14984;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G201A:p.P67P,PRDM16:NM_199454:exon2:c.G201A:p.P67P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199614349;CLNALLELEID=228414;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0014;AF=0.0010;AF_popmax=0.0013;AF_male=0.0009;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0013;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184902|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.777510;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3301721 rs2282198 C T 100 PASS AC=56;AF=0.340455;AN=214;NS=2504;DP=18269;EAS_AF=0.622;AMR_AF=0.3285;AFR_AF=0.0386;EUR_AF=0.2684;SAS_AF=0.5409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S;1000g2015aug_all=0.340455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2282198;CLNALLELEID=228417;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2668;ExAC_nontcga_ALL=0.3367;ExAC_nontcga_AFR=0.0794;ExAC_nontcga_AMR=0.4157;ExAC_nontcga_EAS=0.5938;ExAC_nontcga_FIN=0.3095;ExAC_nontcga_NFE=0.2708;ExAC_nontcga_OTH=0.3275;ExAC_nontcga_SAS=0.5224;AF=0.2426;AF_popmax=0.6047;AF_male=0.2428;AF_female=0.2423;AF_raw=0.2428;AF_afr=0.0775;AF_sas=.;AF_amr=0.3794;AF_eas=0.6047;AF_nfe=0.2763;AF_fin=0.3001;AF_asj=0.2655;AF_oth=0.2768;non_topmed_AF_popmax=0.6053;non_neuro_AF_popmax=0.6047;non_cancer_AF_popmax=.;controls_AF_popmax=0.6137;Kaviar_AF=0.316684;Kaviar_AC=48960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546050;ALLELE_END GT 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 +1 3313213 rs116653529 G A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=14265;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116653529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0052;AF_popmax=0.0079;AF_male=0.0050;AF_female=0.0053;AF_raw=0.0052;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0017;AF_asj=0.0448;AF_oth=0.0083;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0068772;Kaviar_AC=179;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3319339 rs192554855 G A 100 PASS AC=14;AF=0.0213658;AN=214;NS=2504;DP=16674;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0045;EUR_AF=0.0616;SAS_AF=0.0266;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192554855;CLNALLELEID=365019;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0512;ExAC_nontcga_AFR=0.0111;ExAC_nontcga_AMR=0.0202;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0911;ExAC_nontcga_NFE=0.0693;ExAC_nontcga_OTH=0.0420;ExAC_nontcga_SAS=0.0412;AF=0.0540;AF_popmax=0.0753;AF_male=0.0528;AF_female=0.0555;AF_raw=0.0541;AF_afr=0.0122;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0753;AF_fin=0.0821;AF_asj=0.0379;AF_oth=0.0930;non_topmed_AF_popmax=0.0783;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0907;Kaviar_AF=0.0514806;Kaviar_AC=7959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +1 3319461 rs61756439 C T 100 PASS AC=3;AF=0.0115815;AN=214;NS=2504;DP=16101;EAS_AF=0;AMR_AF=0.0519;AFR_AF=0.0023;EUR_AF=0.0129;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon6:c.C783T:p.Y261Y,PRDM16:NM_199454:exon6:c.C783T:p.Y261Y;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756439;CLNALLELEID=228422;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0150;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0669;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0183;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0076;AF=0.0100;AF_popmax=0.0507;AF_male=0.0100;AF_female=0.0099;AF_raw=0.0100;AF_afr=0.0023;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0179;AF_asj=0.0103;AF_oth=0.0138;non_topmed_AF_popmax=0.0519;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0133375;Kaviar_AC=2062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.864227;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 +1 3319541 rs141374404 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15244;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon6:c.G863A:p.R288Q,PRDM16:NM_199454:exon6:c.G863A:p.R288Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141374404;CLNALLELEID=557256;CLNDN=Left_ventricular_noncompaction_8;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.72;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.85;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.115;Polyphen2_HVAR_rankscore=0.495;Polyphen2_HVAR_pred=B;LRT_score=0.105;LRT_converted_rankscore=0.197;LRT_pred=U;MutationTaster_score=0.936;MutationTaster_converted_rankscore=0.288;MutationTaster_pred=N;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=3.18;FATHMM_converted_rankscore=0.075;FATHMM_pred=T;PROVEAN_score=-0.68;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.247;VEST3_rankscore=0.305;MetaSVM_score=-1.043;MetaSVM_rankscore=0.164;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.569;M-CAP_pred=D;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.963;CADD_raw_rankscore=0.297;CADD_phred=15.98;DANN_score=0.676;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.040;Eigen-PC-raw=0.018;GenoCanyon_score=0.608;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=4.930;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.899;phastCons20way_mammalian_rankscore=0.380;SiPhy_29way_logOdds=13.218;SiPhy_29way_logOdds_rankscore=0.591;Interpro_domain=Zinc_finger_C2H2-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.807e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.694e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.116e-05;AF=3.213e-05;AF_popmax=0.0001;AF_male=5.772e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898933;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3319601 rs148238606 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 100 PASS AC=54;AF=0.35603;AN=214;NS=2504;DP=17535;EAS_AF=0.5982;AMR_AF=0.3112;AFR_AF=0.1853;EUR_AF=0.2734;SAS_AF=0.454;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1776;ExAC_nontcga_ALL=0.2270;ExAC_nontcga_AFR=0.0927;ExAC_nontcga_AMR=0.2773;ExAC_nontcga_EAS=0.4871;ExAC_nontcga_FIN=0.2173;ExAC_nontcga_NFE=0.1615;ExAC_nontcga_OTH=0.2165;ExAC_nontcga_SAS=0.3863;AF=0.2662;AF_popmax=0.6041;AF_male=0.2666;AF_female=0.2657;AF_raw=0.2603;AF_afr=0.1242;AF_sas=.;AF_amr=0.4031;AF_eas=0.6041;AF_nfe=0.2805;AF_fin=0.3381;AF_asj=0.3227;AF_oth=0.3013;non_topmed_AF_popmax=0.6047;non_neuro_AF_popmax=0.6041;non_cancer_AF_popmax=.;controls_AF_popmax=0.6141;Kaviar_AF=0.169881;Kaviar_AC=26264;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|1 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|1 0|0 1|1 +1 3321303 rs538193750 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15962;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon7:c.C885T:p.S295S,PRDM16:NM_199454:exon7:c.C885T:p.S295S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538193750;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0142;dbscSNV_RF_SCORE=0.272;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.526e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.833138;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3322049 rs370090853 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13597;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370090853;CLNALLELEID=391327;CLNDN=Left_ventricular_noncompaction_8;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.352e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.79e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.814e-05;AF=0.0001;AF_popmax=0.0003;AF_male=5.733e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.168282;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3327904 rs111486045 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=18231;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111486045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0098;ExAC_nontcga_SAS=0.0006;AF=0.0084;AF_popmax=0.0104;AF_male=0.0073;AF_female=0.0098;AF_raw=0.0084;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0256;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0129;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0199;Kaviar_AF=0.0043466;Kaviar_AC=672;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.695749;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3327973 rs139129844 G A 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=17437;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1212A:p.T404T,PRDM16:NM_199454:exon9:c.G1212A:p.T404T;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139129844;CLNALLELEID=228432;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0043;AF_popmax=0.0066;AF_male=0.0045;AF_female=0.0041;AF_raw=0.0043;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0029;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0039456;Kaviar_AC=610;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895594;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328358 rs870124 T C 100 PASS AC=181;AF=0.945088;AN=214;NS=2504;DP=12650;EAS_AF=0.998;AMR_AF=0.9006;AFR_AF=0.9924;EUR_AF=0.8419;SAS_AF=0.9642;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;1000g2015aug_all=0.945088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs870124;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.651;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.328;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_converted_rankscore=0.289;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=3.38;FATHMM_converted_rankscore=0.060;FATHMM_pred=T;PROVEAN_score=1.31;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.009;MetaSVM_score=-0.955;MetaSVM_rankscore=0.401;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.543;CADD_raw_rankscore=0.053;CADD_phred=0.172;DANN_score=0.663;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_rankscore=0.117;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.721;Eigen-PC-raw=-0.498;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.336;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.33;GERP++_RS_rankscore=0.756;phyloP100way_vertebrate=2.031;phyloP100way_vertebrate_rankscore=0.405;phyloP20way_mammalian=0.058;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.426;phastCons100way_vertebrate_rankscore=0.261;phastCons20way_mammalian=0.826;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=14.274;SiPhy_29way_logOdds_rankscore=0.656;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8356;ExAC_nontcga_ALL=0.8943;ExAC_nontcga_AFR=0.9723;ExAC_nontcga_AMR=0.9247;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9099;ExAC_nontcga_NFE=0.8420;ExAC_nontcga_OTH=0.8928;ExAC_nontcga_SAS=0.9508;AF=0.8986;AF_popmax=0.9994;AF_male=0.9007;AF_female=0.8958;AF_raw=0.8982;AF_afr=0.9698;AF_sas=.;AF_amr=0.9328;AF_eas=0.9994;AF_nfe=0.8435;AF_fin=0.9183;AF_asj=0.8576;AF_oth=0.8813;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=0.9989;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.876291;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 3328499 rs371024796 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13379;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1738A:p.E580K,PRDM16:NM_199454:exon9:c.G1738A:p.E580K;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371024796;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.159;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.355;LRT_pred=U;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.239;MutationTaster_pred=N;MutationAssessor_score=1.48;MutationAssessor_score_rankscore=0.373;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.162;VEST3_rankscore=0.195;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_rankscore=0.082;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.538;M-CAP_pred=D;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.428;CADD_raw_rankscore=0.135;CADD_phred=6.853;DANN_score=0.983;DANN_rankscore=0.396;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.611;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.314;Eigen-PC-raw=-0.317;GenoCanyon_score=0.294;GenoCanyon_score_rankscore=0.191;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=6.729;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=-0.256;phyloP20way_mammalian_rankscore=0.089;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=10.141;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.937e-05;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.719e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.499e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688538;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328646 rs568518616 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13245;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1885A:p.V629M,PRDM16:NM_199454:exon9:c.G1885A:p.V629M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568518616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.114;SIFT_converted_rankscore=0.308;SIFT_pred=T;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.525;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.122;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_converted_rankscore=0.157;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.227;MutationTaster_pred=N;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST3_score=0.088;VEST3_rankscore=0.084;MetaSVM_score=-1.077;MetaSVM_rankscore=0.080;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_rankscore=0.110;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.439;M-CAP_pred=T;REVEL_score=0.153;REVEL_rankscore=0.407;MutPred_score=0.055;MutPred_rankscore=0.001;CADD_raw=1.763;CADD_raw_rankscore=0.273;CADD_phred=14.77;DANN_score=0.992;DANN_rankscore=0.563;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.756;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.209;Eigen-PC-raw=0.221;GenoCanyon_score=0.977;GenoCanyon_score_rankscore=0.297;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.1;GERP++_RS_rankscore=0.346;phyloP100way_vertebrate=4.042;phyloP100way_vertebrate_rankscore=0.568;phyloP20way_mammalian=0.064;phyloP20way_mammalian_rankscore=0.169;phastCons100way_vertebrate=0.976;phastCons100way_vertebrate_rankscore=0.346;phastCons20way_mammalian=0.912;phastCons20way_mammalian_rankscore=0.389;SiPhy_29way_logOdds=14.916;SiPhy_29way_logOdds_rankscore=0.703;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.995e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.79e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.195e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.892011;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328659 rs2493292 C T 100 PASS AC=48;AF=0.10603;AN=214;NS=2504;DP=13011;EAS_AF=0.006;AMR_AF=0.121;AFR_AF=0.1634;EUR_AF=0.166;SAS_AF=0.0593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;1000g2015aug_all=0.10603;GWAS=rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448;ORegAnno_REGULATORY_P=rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448;avsnp150=rs2493292;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.023;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.313;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.268;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_converted_rankscore=0.289;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=3.54;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.036;MetaSVM_score=-0.906;MetaSVM_rankscore=0.474;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.424;CADD_raw_rankscore=0.470;CADD_phred=23.0;DANN_score=0.997;DANN_rankscore=0.818;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_rankscore=0.594;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.217;Eigen-PC-raw=-0.037;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.18;GERP++_RS_rankscore=0.483;phyloP100way_vertebrate=4.653;phyloP100way_vertebrate_rankscore=0.609;phyloP20way_mammalian=0.028;phyloP20way_mammalian_rankscore=0.149;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.009;phastCons20way_mammalian_rankscore=0.108;SiPhy_29way_logOdds=14.960;SiPhy_29way_logOdds_rankscore=0.707;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1516;ExAC_nontcga_ALL=0.1287;ExAC_nontcga_AFR=0.1689;ExAC_nontcga_AMR=0.0735;ExAC_nontcga_EAS=0.0109;ExAC_nontcga_FIN=0.0971;ExAC_nontcga_NFE=0.1654;ExAC_nontcga_OTH=0.1625;ExAC_nontcga_SAS=0.0838;AF=0.1360;AF_popmax=0.1649;AF_male=0.1354;AF_female=0.1368;AF_raw=0.1364;AF_afr=0.1649;AF_sas=.;AF_amr=0.1028;AF_eas=0.0135;AF_nfe=0.1399;AF_fin=0.1063;AF_asj=0.1806;AF_oth=0.1354;non_topmed_AF_popmax=0.1652;non_neuro_AF_popmax=0.1683;non_cancer_AF_popmax=.;controls_AF_popmax=0.1702;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885826;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 +1 3329051 rs149333409 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14213;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2290A:p.V764M,PRDM16:NM_199454:exon9:c.G2290A:p.V764M;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149333409;CLNALLELEID=228446;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.075;SIFT_converted_rankscore=0.373;SIFT_pred=T;Polyphen2_HDIV_score=0.8;Polyphen2_HDIV_rankscore=0.430;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.259;Polyphen2_HVAR_rankscore=0.377;Polyphen2_HVAR_pred=B;LRT_score=0.071;LRT_converted_rankscore=0.215;LRT_pred=U;MutationTaster_score=0.920;MutationTaster_converted_rankscore=0.273;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.131;VEST3_rankscore=0.150;MetaSVM_score=-1.031;MetaSVM_rankscore=0.202;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.046;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.373;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.133;CADD_raw_rankscore=0.082;CADD_phred=1.498;DANN_score=0.982;DANN_rankscore=0.382;fathmm-MKL_coding_score=0.618;fathmm-MKL_coding_rankscore=0.313;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.349;Eigen-PC-raw=-0.349;GenoCanyon_score=0.146;GenoCanyon_score_rankscore=0.174;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.68;GERP++_RS_rankscore=0.231;phyloP100way_vertebrate=1.906;phyloP100way_vertebrate_rankscore=0.393;phyloP20way_mammalian=0.984;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=0.969;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.922;SiPhy_29way_logOdds_rankscore=0.182;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0009;AF_popmax=0.0015;AF_male=0.0007;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.001313;Kaviar_AC=203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.765136;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329182 rs549044743 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11899;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C2421T:p.I807I,PRDM16:NM_199454:exon9:c.C2421T:p.I807I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549044743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0017;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.371e-05;AF_popmax=0.0006;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.810339;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329213 rs201904226 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=11564;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2452A:p.G818S,PRDM16:NM_199454:exon9:c.G2452A:p.G818S;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201904226;CLNALLELEID=238274;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.343;SIFT_converted_rankscore=0.240;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_converted_rankscore=0.333;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.230;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=3.52;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.208;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.348;MetaSVM_score=-1.028;MetaSVM_rankscore=0.210;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_rankscore=0.085;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.495;M-CAP_pred=D;REVEL_score=0.106;REVEL_rankscore=0.306;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.736;CADD_raw_rankscore=0.164;CADD_phred=9.063;DANN_score=0.992;DANN_rankscore=0.534;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_rankscore=0.403;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.201;Eigen-PC-raw=-0.199;GenoCanyon_score=0.781;GenoCanyon_score_rankscore=0.238;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.41;GERP++_RS_rankscore=0.380;phyloP100way_vertebrate=3.024;phyloP100way_vertebrate_rankscore=0.491;phyloP20way_mammalian=0.132;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.306;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=9.816;SiPhy_29way_logOdds_rankscore=0.398;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0054;AF=0.0015;AF_popmax=0.0025;AF_male=0.0017;AF_female=0.0012;AF_raw=0.0015;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0016041;Kaviar_AC=248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.670412;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329229 rs371654192 G C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=10688;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2468C:p.R823P,PRDM16:NM_199454:exon9:c.G2468C:p.R823P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371654192;CLNALLELEID=228448;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.942;Polyphen2_HVAR_rankscore=0.662;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=3.22;FATHMM_converted_rankscore=0.079;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.669;VEST3_rankscore=0.679;MetaSVM_score=-1.072;MetaSVM_rankscore=0.090;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.287;MetaLR_pred=T;M-CAP_score=0.124;M-CAP_rankscore=0.806;M-CAP_pred=D;REVEL_score=0.242;REVEL_rankscore=0.552;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.698;CADD_raw_rankscore=0.630;CADD_phred=24.6;DANN_score=0.994;DANN_rankscore=0.613;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.650;Eigen-PC-raw=0.586;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.32;GERP++_RS_rankscore=0.507;phyloP100way_vertebrate=6.297;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=1.035;phyloP20way_mammalian_rankscore=0.655;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.979;phastCons20way_mammalian_rankscore=0.486;SiPhy_29way_logOdds=17.156;SiPhy_29way_logOdds_rankscore=0.866;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0024;AF_popmax=0.0034;AF_male=0.0027;AF_female=0.0019;AF_raw=0.0024;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.798685;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329384 rs2493291 C T 100 PASS AC=46;AF=0.107029;AN=214;NS=2504;DP=11363;EAS_AF=0.006;AMR_AF=0.1196;AFR_AF=0.1717;EUR_AF=0.161;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.107029;GWAS=rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314;ORegAnno_REGULATORY_P=rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314;avsnp150=rs2493291;CLNALLELEID=365234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1344;ExAC_nontcga_ALL=0.2205;ExAC_nontcga_AFR=0.2556;ExAC_nontcga_AMR=0.1466;ExAC_nontcga_EAS=0.0345;ExAC_nontcga_FIN=0.2381;ExAC_nontcga_NFE=0.2509;ExAC_nontcga_OTH=0.4167;ExAC_nontcga_SAS=0.1190;AF=0.1350;AF_popmax=0.1654;AF_male=0.1345;AF_female=0.1356;AF_raw=0.1353;AF_afr=0.1654;AF_sas=.;AF_amr=0.0993;AF_eas=0.0135;AF_nfe=0.1381;AF_fin=0.1059;AF_asj=0.1793;AF_oth=0.1308;non_topmed_AF_popmax=0.1656;non_neuro_AF_popmax=0.1709;non_cancer_AF_popmax=.;controls_AF_popmax=0.1757;Kaviar_AF=0.0647469;Kaviar_AC=10010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.800923;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 3331099 rs181889448 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=11180;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181889448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0102;AF=0.0050;AF_popmax=0.0081;AF_male=0.0050;AF_female=0.0050;AF_raw=0.0051;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0057179;Kaviar_AC=884;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.532652;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 3331192 rs573567598 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14503;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon10:c.C2672T:p.P891L,PRDM16:NM_199454:exon10:c.C2672T:p.P891L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573567598;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=2.98;FATHMM_converted_rankscore=0.094;FATHMM_pred=T;PROVEAN_score=-5.05;PROVEAN_converted_rankscore=0.837;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.707;MetaSVM_score=-1.142;MetaSVM_rankscore=0.013;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.286;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=0.451;MutPred_rankscore=0.513;CADD_raw=6.541;CADD_raw_rankscore=0.901;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.971;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.600;Eigen-PC-raw=0.607;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.94;GERP++_RS_rankscore=0.645;phyloP100way_vertebrate=7.465;phyloP100way_vertebrate_rankscore=0.798;phyloP20way_mammalian=0.834;phyloP20way_mammalian_rankscore=0.340;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=18.140;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.019e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.93e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.699868;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3334598 rs188132529 C T 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=15651;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0169;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188132529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0584;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0184;ExAC_nontcga_SAS=0.0041;AF=0.0137;AF_popmax=0.0159;AF_male=0.0130;AF_female=0.0147;AF_raw=0.0138;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0159;AF_fin=0.0420;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.0188;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0252;Kaviar_AF=0.0090749;Kaviar_AC=1403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3335162 rs190025799 A G 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=18606;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0091;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190025799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0023;AF_popmax=0.0081;AF_male=0.0024;AF_female=0.0022;AF_raw=0.0023;AF_afr=0.0081;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.504e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342109 rs41303861 G T 100 PASS AC=66;AF=0.117412;AN=214;NS=2504;DP=12919;EAS_AF=0.0179;AMR_AF=0.1398;AFR_AF=0.0991;EUR_AF=0.2217;SAS_AF=0.1217;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41303861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2125;ExAC_nontcga_ALL=0.1710;ExAC_nontcga_AFR=0.1122;ExAC_nontcga_AMR=0.0948;ExAC_nontcga_EAS=0.0214;ExAC_nontcga_FIN=0.1787;ExAC_nontcga_NFE=0.2241;ExAC_nontcga_OTH=0.2262;ExAC_nontcga_SAS=0.1427;AF=0.1604;AF_popmax=0.1958;AF_male=0.1570;AF_female=0.1647;AF_raw=0.1606;AF_afr=0.1062;AF_sas=.;AF_amr=0.1288;AF_eas=0.0238;AF_nfe=0.1958;AF_fin=0.1912;AF_asj=0.2862;AF_oth=0.1806;non_topmed_AF_popmax=0.1922;non_neuro_AF_popmax=0.1951;non_cancer_AF_popmax=.;controls_AF_popmax=0.1720;Kaviar_AF=0.167973;Kaviar_AC=25969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 +1 3342128 rs41301967 G A 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=13337;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41301967;CLNALLELEID=365137;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0118;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0150;ExAC_nontcga_SAS=0.0045;AF=0.0147;AF_popmax=0.0215;AF_male=0.0145;AF_female=0.0149;AF_raw=0.0147;AF_afr=0.0057;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0135;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0214;non_neuro_AF_popmax=0.0219;non_cancer_AF_popmax=.;controls_AF_popmax=0.0213;Kaviar_AF=0.0131434;Kaviar_AC=2032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.477051;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342364 rs11805974 C T 100 PASS AC=11;AF=0.0613019;AN=214;NS=2504;DP=3982;EAS_AF=0;AMR_AF=0.0375;AFR_AF=0.1679;EUR_AF=0.0427;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0613019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11805974;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0374;ExAC_nontcga_ALL=0.0390;ExAC_nontcga_AFR=0.1525;ExAC_nontcga_AMR=0.0245;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0401;ExAC_nontcga_OTH=0.0227;ExAC_nontcga_SAS=0.0172;AF=0.0641;AF_popmax=0.1456;AF_male=0.0652;AF_female=0.0627;AF_raw=0.0643;AF_afr=0.1456;AF_sas=.;AF_amr=0.0366;AF_eas=0;AF_nfe=0.0384;AF_fin=0.0187;AF_asj=0.0276;AF_oth=0.0451;non_topmed_AF_popmax=0.1450;non_neuro_AF_popmax=0.1454;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0397537;Kaviar_AC=6146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342804 rs870171 G T 100 PASS AC=61;AF=0.379393;AN=214;NS=2504;DP=17315;EAS_AF=0.5238;AMR_AF=0.3444;AFR_AF=0.4387;EUR_AF=0.2753;SAS_AF=0.2822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs870171;CLNALLELEID=228464;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2724;ExAC_nontcga_ALL=0.2975;ExAC_nontcga_AFR=0.4249;ExAC_nontcga_AMR=0.2734;ExAC_nontcga_EAS=0.4828;ExAC_nontcga_FIN=0.2227;ExAC_nontcga_NFE=0.2665;ExAC_nontcga_OTH=0.2961;ExAC_nontcga_SAS=0.2917;AF=0.3184;AF_popmax=0.5143;AF_male=0.3238;AF_female=0.3116;AF_raw=0.3187;AF_afr=0.4265;AF_sas=.;AF_amr=0.3066;AF_eas=0.5143;AF_nfe=0.2639;AF_fin=0.2285;AF_asj=0.2793;AF_oth=0.2560;non_topmed_AF_popmax=0.5153;non_neuro_AF_popmax=0.5143;non_cancer_AF_popmax=.;controls_AF_popmax=0.5033;Kaviar_AF=0.292745;Kaviar_AC=45259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1896606|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 +1 3342817 rs374229851 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374229851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.188e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1896606|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3350173 rs2493271 T C 100 PASS AC=71;AF=0.403754;AN=214;NS=2504;DP=11510;EAS_AF=0.376;AMR_AF=0.2579;AFR_AF=0.7451;EUR_AF=0.2495;SAS_AF=0.2331;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2493271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0922;AF_popmax=0.2617;AF_male=0.0940;AF_female=0.0900;AF_raw=0.1312;AF_afr=0.2617;AF_sas=.;AF_amr=0.0378;AF_eas=0.1742;AF_nfe=0.0367;AF_fin=0.0244;AF_asj=0.1055;AF_oth=0.0465;non_topmed_AF_popmax=0.2614;non_neuro_AF_popmax=0.2503;non_cancer_AF_popmax=.;controls_AF_popmax=0.2448;Kaviar_AF=0.0355041;Kaviar_AC=5489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 1|1 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|0 +1 3350409 rs3748837 G A 100 PASS AC=4;AF=0.0982428;AN=214;NS=2504;DP=12881;EAS_AF=0.3214;AMR_AF=0.0288;AFR_AF=0.0061;EUR_AF=0.0239;SAS_AF=0.1186;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.*34G>A\x3bNM_199454:c.*34G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3748837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0109;ExAC_nontcga_AMR=0.0494;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0339;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0540;ExAC_nontcga_SAS=0.1091;AF=0.0357;AF_popmax=0.3139;AF_male=0.0392;AF_female=0.0314;AF_raw=0.0357;AF_afr=0.0077;AF_sas=.;AF_amr=0.0354;AF_eas=0.3139;AF_nfe=0.0254;AF_fin=0.0279;AF_asj=0.0517;AF_oth=0.0294;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3139;non_cancer_AF_popmax=.;controls_AF_popmax=0.3140;Kaviar_AF=0.0558466;Kaviar_AC=8634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.118171;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.*34G>A\x3bNM_199454:c.*34G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3748837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0109;ExAC_nontcga_AMR=0.0494;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0339;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0540;ExAC_nontcga_SAS=0.1091;AF=0.0357;AF_popmax=0.3139;AF_male=0.0392;AF_female=0.0314;AF_raw=0.0357;AF_afr=0.0077;AF_sas=.;AF_amr=0.0354;AF_eas=0.3139;AF_nfe=0.0254;AF_fin=0.0279;AF_asj=0.0517;AF_oth=0.0294;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3139;non_cancer_AF_popmax=.;controls_AF_popmax=0.3140;Kaviar_AF=0.0558466;Kaviar_AC=8634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.118171;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 11905974 rs5068 A G 100 PASS AC=10;AF=0.0309505;AN=214;NS=2504;DP=20421;EAS_AF=0.002;AMR_AF=0.0072;AFR_AF=0.0242;EUR_AF=0.0656;SAS_AF=0.0511;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858;ORegAnno_REGULATORY_P=rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858;avsnp150=rs5068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0522;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0491;AF_popmax=0.0548;AF_male=0.0483;AF_female=0.0501;AF_raw=0.0491;AF_afr=0.0301;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0548;AF_fin=0.0981;AF_asj=0.0103;AF_oth=0.0551;non_topmed_AF_popmax=0.0586;non_neuro_AF_popmax=0.0548;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0091202;Kaviar_AC=1410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 11905981 rs5067 A G 100 PASS AC=24;AF=0.179113;AN=214;NS=2504;DP=20312;EAS_AF=0.0129;AMR_AF=0.1138;AFR_AF=0.4183;EUR_AF=0.1233;SAS_AF=0.1309;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5067;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1496;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1998;AF_popmax=0.4133;AF_male=0.2065;AF_female=0.1913;AF_raw=0.2002;AF_afr=0.4133;AF_sas=.;AF_amr=0.1026;AF_eas=0.0084;AF_nfe=0.1377;AF_fin=0.0786;AF_asj=0.1138;AF_oth=0.1317;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4142;non_cancer_AF_popmax=.;controls_AF_popmax=0.4134;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.694342;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +1 11905995 rs5066 C A 100 PASS AC=10;AF=0.0221645;AN=214;NS=2504;DP=19802;EAS_AF=0.001;AMR_AF=0.0231;AFR_AF=0.0045;EUR_AF=0.0467;SAS_AF=0.0419;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0355;AF_popmax=0.0513;AF_male=0.0386;AF_female=0.0316;AF_raw=0.0356;AF_afr=0.0139;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0513;AF_fin=0.0345;AF_asj=0.0552;AF_oth=0.0434;non_topmed_AF_popmax=0.0485;non_neuro_AF_popmax=0.0506;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0093272;Kaviar_AC=1442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.806134;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 11906068 rs5065 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +1 11906129 rs191907532 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18477;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191907532;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 11907603 rs5064 G A 100 PASS AC=14;AF=0.129593;AN=214;NS=2504;DP=18554;EAS_AF=0.0079;AMR_AF=0.0836;AFR_AF=0.3185;EUR_AF=0.0765;SAS_AF=0.0869;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.129593;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5064;CLNALLELEID=45324;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0877;ExAC_nontcga_ALL=0.0879;ExAC_nontcga_AFR=0.2854;ExAC_nontcga_AMR=0.0507;ExAC_nontcga_EAS=0.0083;ExAC_nontcga_FIN=0.0432;ExAC_nontcga_NFE=0.0730;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1093;AF=0.1336;AF_popmax=0.2902;AF_male=0.1355;AF_female=0.1312;AF_raw=0.1337;AF_afr=0.2902;AF_sas=.;AF_amr=0.0731;AF_eas=0.0071;AF_nfe=0.0864;AF_fin=0.0441;AF_asj=0.0586;AF_oth=0.0846;non_topmed_AF_popmax=0.2918;non_neuro_AF_popmax=0.2957;non_cancer_AF_popmax=.;controls_AF_popmax=0.2929;Kaviar_AF=0.0886405;Kaviar_AC=13704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.101103::-0.517377;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 11907648 rs5063 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26378362 rs77965623 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=12495;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRIM63;GeneDetail.refGene=NM_032588:c.*2G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77965623;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0037;ExAC_nontcga_SAS=0.0001;AF=0.0043;AF_popmax=0.0072;AF_male=0.0043;AF_female=0.0044;AF_raw=0.0044;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0069;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0045148;Kaviar_AC=698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26378415 rs200141975 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14606;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200141975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.111e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.051e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383618 rs1317428 C G 100 PASS AC=2;AF=0.0964457;AN=214;NS=2504;DP=18791;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.3457;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0964457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1317428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0850;AF_popmax=0.2953;AF_male=0.0880;AF_female=0.0812;AF_raw=0.0847;AF_afr=0.2953;AF_sas=.;AF_amr=0.0296;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0269;non_topmed_AF_popmax=0.2957;non_neuro_AF_popmax=0.2942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2924;Kaviar_AF=0.0052393;Kaviar_AC=810;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383645 rs144384652 CCAGGGGT C 100 PASS AC=52;AF=0.0926518;AN=214;NS=2504;DP=21079;EAS_AF=0.005;AMR_AF=0.1297;AFR_AF=0.0068;EUR_AF=0.2694;SAS_AF=0.091;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0926518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144384652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2340;ExAC_nontcga_ALL=0.1729;ExAC_nontcga_AFR=0.0428;ExAC_nontcga_AMR=0.0975;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.2563;ExAC_nontcga_NFE=0.2398;ExAC_nontcga_OTH=0.1983;ExAC_nontcga_SAS=0.1238;AF=0.1751;AF_popmax=0.2515;AF_male=0.1718;AF_female=0.1792;AF_raw=0.1767;AF_afr=0.0381;AF_sas=.;AF_amr=0.1226;AF_eas=0.0006;AF_nfe=0.2515;AF_fin=0.2566;AF_asj=0.1944;AF_oth=0.2209;non_topmed_AF_popmax=0.2553;non_neuro_AF_popmax=0.2532;non_cancer_AF_popmax=.;controls_AF_popmax=0.2635;Kaviar_AF=0.005388;Kaviar_AC=833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 +1 26383647 rs200214717 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19684;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200214717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.158e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.809e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383700 rs199707976 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon7:c.G973C:p.G325R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199707976;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.541;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.083;Polyphen2_HDIV_rankscore=0.232;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.358;LRT_pred=N;MutationTaster_score=0.987;MutationTaster_converted_rankscore=0.405;MutationTaster_pred=D;MutationAssessor_score=1.545;MutationAssessor_score_rankscore=0.392;MutationAssessor_pred=L;FATHMM_score=1.86;FATHMM_converted_rankscore=0.243;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_converted_rankscore=0.314;PROVEAN_pred=N;VEST3_score=0.437;VEST3_rankscore=0.492;MetaSVM_score=-1.091;MetaSVM_rankscore=0.053;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.227;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.122;M-CAP_pred=T;REVEL_score=0.040;REVEL_rankscore=0.108;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.499;CADD_raw_rankscore=0.362;CADD_phred=19.46;DANN_score=0.963;DANN_rankscore=0.288;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.716;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.178;Eigen-PC-raw=-0.024;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=1.359;phyloP100way_vertebrate_rankscore=0.335;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.581;phastCons100way_vertebrate_rankscore=0.274;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.036;SiPhy_29way_logOdds_rankscore=0.581;Interpro_domain=COS_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.818774;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383875 rs2275947 A G 100 PASS AC=62;AF=0.260783;AN=214;NS=2504;DP=18108;EAS_AF=0.1696;AMR_AF=0.1499;AFR_AF=0.5484;EUR_AF=0.2217;SAS_AF=0.0849;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.260783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275947;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2759;AF_popmax=0.4941;AF_male=0.2798;AF_female=0.2710;AF_raw=0.2762;AF_afr=0.4941;AF_sas=.;AF_amr=0.1639;AF_eas=0.1898;AF_nfe=0.1931;AF_fin=0.1897;AF_asj=0.1862;AF_oth=0.2123;non_topmed_AF_popmax=0.4946;non_neuro_AF_popmax=0.4938;non_cancer_AF_popmax=.;controls_AF_popmax=0.4930;Kaviar_AF=0.044883;Kaviar_AC=6939;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.214015::-0.297233;Heart_Left_Ventricle=Heart_Left_Ventricle::0.231618::0.433288;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26384013 rs12059101 A G 100 PASS AC=59;AF=0.117412;AN=214;NS=2504;DP=20825;EAS_AF=0.0556;AMR_AF=0.1052;AFR_AF=0.1248;EUR_AF=0.2157;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12059101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1690;AF_popmax=0.1902;AF_male=0.1671;AF_female=0.1714;AF_raw=0.1693;AF_afr=0.1450;AF_sas=.;AF_amr=0.1265;AF_eas=0.0580;AF_nfe=0.1902;AF_fin=0.1896;AF_asj=0.1793;AF_oth=0.1847;non_topmed_AF_popmax=0.1914;non_neuro_AF_popmax=0.1879;non_cancer_AF_popmax=.;controls_AF_popmax=0.1790;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.17803::-0.356137;Heart_Left_Ventricle=Heart_Left_Ventricle::0.196691::0.447153;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26385003 rs2275950 T C 100 PASS AC=60;AF=0.182308;AN=214;NS=2504;DP=20137;EAS_AF=0.1706;AMR_AF=0.1239;AFR_AF=0.267;EUR_AF=0.2187;SAS_AF=0.0838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon5:c.A709G:p.K237E;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=P;MutationAssessor_score=-2.805;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=3.31;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.019;VEST3_rankscore=0.004;MetaSVM_score=-0.985;MetaSVM_rankscore=0.339;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.155;REVEL_rankscore=0.410;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.211;CADD_raw_rankscore=0.211;CADD_phred=11.80;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.908;Eigen-PC-raw=-0.560;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=5.5;GERP++_RS_rankscore=0.813;phyloP100way_vertebrate=2.284;phyloP100way_vertebrate_rankscore=0.429;phyloP20way_mammalian=0.016;phyloP20way_mammalian_rankscore=0.142;phastCons100way_vertebrate=0.963;phastCons100way_vertebrate_rankscore=0.335;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=14.221;SiPhy_29way_logOdds_rankscore=0.652;Interpro_domain=.;GTEx_V6p_gene=ENSG00000142675.13|ENSG00000158008.5|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142675.13|ENSG00000158006.9|ENSG00000142675.13|ENSG00000169442.4|ENSG00000158014.10|ENSG00000175087.5|ENSG00000158014.10|ENSG00000175087.5|ENSG00000142675.13|ENSG00000158022.6;GTEx_V6p_tissue=Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2165;ExAC_nontcga_ALL=0.1902;ExAC_nontcga_AFR=0.2719;ExAC_nontcga_AMR=0.0837;ExAC_nontcga_EAS=0.1940;ExAC_nontcga_FIN=0.1959;ExAC_nontcga_NFE=0.2233;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.1060;AF=0.2101;AF_popmax=0.2613;AF_male=0.2114;AF_female=0.2085;AF_raw=0.2101;AF_afr=0.2613;AF_sas=.;AF_amr=0.1481;AF_eas=0.1926;AF_nfe=0.1924;AF_fin=0.1902;AF_asj=0.1875;AF_oth=0.1939;non_topmed_AF_popmax=0.2616;non_neuro_AF_popmax=0.2604;non_cancer_AF_popmax=.;controls_AF_popmax=0.2615;Kaviar_AF=0.19232;Kaviar_AC=29733;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.189394::-0.327296;Heart_Left_Ventricle=Heart_Left_Ventricle::0.207721::0.441801;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.333441;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26385150 rs2275949 G C 100 PASS AC=60;AF=0.156749;AN=214;NS=2504;DP=21453;EAS_AF=0.1706;AMR_AF=0.1138;AFR_AF=0.1747;EUR_AF=0.2187;SAS_AF=0.0849;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.156749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2160;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.1939;ExAC_nontcga_AMR=0.0801;ExAC_nontcga_EAS=0.1938;ExAC_nontcga_FIN=0.1960;ExAC_nontcga_NFE=0.2238;ExAC_nontcga_OTH=0.1529;ExAC_nontcga_SAS=0.1096;AF=0.1890;AF_popmax=0.1923;AF_male=0.1886;AF_female=0.1893;AF_raw=0.1891;AF_afr=0.1881;AF_sas=.;AF_amr=0.1356;AF_eas=0.1909;AF_nfe=0.1923;AF_fin=0.1906;AF_asj=0.1862;AF_oth=0.1827;non_topmed_AF_popmax=0.1932;non_neuro_AF_popmax=0.1909;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.182469;Kaviar_AC=28210;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.185606::-0.316384;Heart_Left_Ventricle=Heart_Left_Ventricle::0.198529::0.428571;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26386771 rs200823488 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19146;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon4:c.C583T:p.R195C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200823488;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.944;MutationTaster_converted_rankscore=0.374;MutationTaster_pred=D;MutationAssessor_score=-3.015;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_converted_rankscore=0.437;FATHMM_pred=T;PROVEAN_score=10.96;PROVEAN_converted_rankscore=0.000;PROVEAN_pred=N;VEST3_score=0.255;VEST3_rankscore=0.311;MetaSVM_score=-0.970;MetaSVM_rankscore=0.373;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.058;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.249;M-CAP_pred=T;REVEL_score=0.110;REVEL_rankscore=0.316;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.871;CADD_raw_rankscore=0.286;CADD_phred=15.41;DANN_score=0.878;DANN_rankscore=0.170;fathmm-MKL_coding_score=0.070;fathmm-MKL_coding_rankscore=0.129;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.111;Eigen-PC-raw=-0.803;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.39;GERP++_RS_rankscore=0.212;phyloP100way_vertebrate=5.237;phyloP100way_vertebrate_rankscore=0.650;phyloP20way_mammalian=0.162;phyloP20way_mammalian_rankscore=0.245;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=6.104;SiPhy_29way_logOdds_rankscore=0.192;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000351410|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.755141;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26387625 rs41311276 A C 100 PASS AC=50;AF=0.11881;AN=214;NS=2504;DP=19985;EAS_AF=0.0337;AMR_AF=0.0965;AFR_AF=0.1838;EUR_AF=0.1829;SAS_AF=0.0685;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.11881;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311276;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1777;ExAC_nontcga_ALL=0.1483;ExAC_nontcga_AFR=0.1833;ExAC_nontcga_AMR=0.0749;ExAC_nontcga_EAS=0.0403;ExAC_nontcga_FIN=0.1561;ExAC_nontcga_NFE=0.1881;ExAC_nontcga_OTH=0.1321;ExAC_nontcga_SAS=0.0929;AF=0.1596;AF_popmax=0.1827;AF_male=0.1568;AF_female=0.1632;AF_raw=0.1601;AF_afr=0.1827;AF_sas=.;AF_amr=0.1061;AF_eas=0.0404;AF_nfe=0.1613;AF_fin=0.1597;AF_asj=0.1966;AF_oth=0.1543;non_topmed_AF_popmax=0.1833;non_neuro_AF_popmax=0.1755;non_cancer_AF_popmax=.;controls_AF_popmax=0.1715;Kaviar_AF=0.146182;Kaviar_AC=22600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.159926::0.448395;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 +1 26387783 rs144196126 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=20251;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon3:c.C375T:p.H125H;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144196126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0013;AF_popmax=0.0023;AF_male=0.0015;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0011449;Kaviar_AC=177;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.084419;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26392824 rs35123100 C A 100 PASS AC=5;AF=0.0183706;AN=214;NS=2504;DP=18566;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.003;EUR_AF=0.0646;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;1000g2015aug_all=0.0183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35123100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0844;ExAC_nontcga_ALL=0.0499;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0280;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0604;ExAC_nontcga_NFE=0.0786;ExAC_nontcga_OTH=0.0462;ExAC_nontcga_SAS=0.0101;AF=0.0669;AF_popmax=0.1037;AF_male=0.0655;AF_female=0.0687;AF_raw=0.0670;AF_afr=0.0141;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.1037;AF_fin=0.0685;AF_asj=0.0655;AF_oth=0.0873;non_topmed_AF_popmax=0.1054;non_neuro_AF_popmax=0.1041;non_cancer_AF_popmax=.;controls_AF_popmax=0.1192;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0919118::-0.648815;ENSEMBLReg=Name\x3dENSR00000351413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.071261;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 26393974 rs3795690 C T 100 PASS AC=3;AF=0.0415335;AN=214;NS=2504;DP=16988;EAS_AF=0.0734;AMR_AF=0.0115;AFR_AF=0.0893;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon1:c.G12A:p.K4K;1000g2015aug_all=0.0415335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795690;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0902;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0994;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0312;AF_popmax=0.1080;AF_male=0.0336;AF_female=0.0281;AF_raw=0.0313;AF_afr=0.0896;AF_sas=.;AF_amr=0.0059;AF_eas=0.1080;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.1087;non_neuro_AF_popmax=0.1080;non_cancer_AF_popmax=.;controls_AF_popmax=0.1072;Kaviar_AF=0.0153297;Kaviar_AC=2370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000351413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.728132;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74701107 rs41289180 C T 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16530;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3K;GeneDetail.refGene=NM_015978:c.-29C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289180;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0196;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0020;AF=0.0098;AF_popmax=0.0131;AF_male=0.0095;AF_female=0.0103;AF_raw=0.0098;AF_afr=0.0018;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0179;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0129;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74701295 rs505508 T A 100 PASS AC=214;AF=0.976837;AN=214;NS=2504;DP=15437;EAS_AF=1;AMR_AF=0.9928;AFR_AF=0.916;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.976837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9800;AF_popmax=1;AF_male=0.9779;AF_female=0.9828;AF_raw=0.9801;AF_afr=0.9293;AF_sas=.;AF_amr=0.9964;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 74701950 rs532221 T A 100 PASS AC=63;AF=0.351837;AN=214;NS=2504;DP=16692;EAS_AF=0.7401;AMR_AF=0.2997;AFR_AF=0.0605;EUR_AF=0.3201;SAS_AF=0.4151;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2880;AF_popmax=0.7287;AF_male=0.2841;AF_female=0.2929;AF_raw=0.2883;AF_afr=0.1092;AF_sas=.;AF_amr=0.3473;AF_eas=0.7287;AF_nfe=0.3152;AF_fin=0.3824;AF_asj=0.4241;AF_oth=0.3235;non_topmed_AF_popmax=0.7288;non_neuro_AF_popmax=0.7287;non_cancer_AF_popmax=.;controls_AF_popmax=0.7252;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.305118::-0.32395;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|1 0|0 1|0 1|0 +1 74716310 rs45487595 C A 100 PASS AC=1;AF=0.0692891;AN=214;NS=2504;DP=16617;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.2511;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0692891;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45487595;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.2099;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0049;ExAC_nontcga_SAS=0.0004;AF=0.0557;AF_popmax=0.1973;AF_male=0.0598;AF_female=0.0504;AF_raw=0.0558;AF_afr=0.1973;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0156;non_topmed_AF_popmax=0.1989;non_neuro_AF_popmax=0.1903;non_cancer_AF_popmax=.;controls_AF_popmax=0.1921;Kaviar_AF=0.0180205;Kaviar_AC=2786;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74716515 rs532890705;rs543878273 CT CTT,C 100 PASS AC=91,5;AF=0.383586,0.0299521;AN=214;NS=2504;DP=18693;EAS_AF=0.4772,0;AMR_AF=0.3804,0.0533;AFR_AF=0.3018,0.0204;EUR_AF=0.4085,0.0537;SAS_AF=0.3742,0.0327;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543878273;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0709;AF_popmax=0.0928;AF_male=0.0688;AF_female=0.0736;AF_raw=0.0584;AF_afr=0.0564;AF_sas=.;AF_amr=0.0928;AF_eas=0.0021;AF_nfe=0.0746;AF_fin=0.2092;AF_asj=0.0346;AF_oth=0.0921;non_topmed_AF_popmax=0.0932;non_neuro_AF_popmax=0.0833;non_cancer_AF_popmax=.;controls_AF_popmax=0.1711;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|1 0|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|2 0|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|0 0|1 0|2 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|1 2|0 1|0 0|0 1|0 2|0 0|1 1|0 0|1 0|0 1|0 2|0 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|1 0|0 1|0 1|0 1|0 1|1 +1 74716524 rs548378187 T C 100 PASS AC=5;AF=0.0299521;AN=214;NS=2504;DP=16493;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.0204;EUR_AF=0.0537;SAS_AF=0.0327;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548378187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0460;AF_popmax=0.0591;AF_male=0.0445;AF_female=0.0479;AF_raw=0.0457;AF_afr=0.0229;AF_sas=.;AF_amr=0.0418;AF_eas=0.0013;AF_nfe=0.0591;AF_fin=0.0675;AF_asj=0.0207;AF_oth=0.0550;non_topmed_AF_popmax=0.0618;non_neuro_AF_popmax=0.0590;non_cancer_AF_popmax=.;controls_AF_popmax=0.0667;Kaviar_AF=0.0171738;Kaviar_AC=447;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74737269 rs200319360 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21188;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200319360;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.189e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.029e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74737274 rs45443204 C T 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=20994;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0159;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45443204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0025;AF=0.0039;AF_popmax=0.0130;AF_male=0.0041;AF_female=0.0037;AF_raw=0.0039;AF_afr=0.0021;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0052;AF_fin=0.0006;AF_asj=0.0138;AF_oth=0.0074;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.02;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0055433;Kaviar_AC=857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74801864 rs11210450 A G 100 PASS AC=9;AF=0.113019;AN=214;NS=2504;DP=16008;EAS_AF=0.1062;AMR_AF=0.0504;AFR_AF=0.1861;EUR_AF=0.0398;SAS_AF=0.1411;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.113019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11210450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0699;ExAC_nontcga_AFR=0.1690;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.0904;ExAC_nontcga_FIN=0.0513;ExAC_nontcga_NFE=0.0459;ExAC_nontcga_OTH=0.0392;ExAC_nontcga_SAS=0.1159;AF=0.0743;AF_popmax=0.1634;AF_male=0.0752;AF_female=0.0731;AF_raw=0.0747;AF_afr=0.1634;AF_sas=.;AF_amr=0.0472;AF_eas=0.0887;AF_nfe=0.0335;AF_fin=0.0450;AF_asj=0.0207;AF_oth=0.0497;non_topmed_AF_popmax=0.1631;non_neuro_AF_popmax=0.1610;non_cancer_AF_popmax=.;controls_AF_popmax=0.1605;Kaviar_AF=0.063602;Kaviar_AC=9833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +1 74801871 rs138935678 G C 100 PASS AC=5;AF=0.00339457;AN=214;NS=2504;DP=16166;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138935678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0248;ExAC_nontcga_NFE=0.0090;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0009;AF=0.0080;AF_popmax=0.0096;AF_male=0.0076;AF_female=0.0086;AF_raw=0.0080;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0096;AF_fin=0.0236;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0099;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0061642;Kaviar_AC=953;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74801878 rs142785451 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16195;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142785451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.783e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.428e-05;AF=0.0002;AF_popmax=0.0012;AF_male=0.0003;AF_female=7.184e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74808620 rs150107405 G C 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19180;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.G777C:p.L259F,FPGT-TNNI3K:NM_001112808:exon10:c.G1119C:p.L373F,FPGT-TNNI3K:NM_001199327:exon10:c.G1119C:p.L373F;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150107405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.6;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=0.885;MutationAssessor_score_rankscore=0.217;MutationAssessor_pred=L;FATHMM_score=2.37;FATHMM_converted_rankscore=0.160;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.111;MetaSVM_score=-0.928;MetaSVM_rankscore=0.444;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.014;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.239;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.697;CADD_raw_rankscore=0.002;CADD_phred=0.001;DANN_score=0.601;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_rankscore=0.152;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.578;Eigen-PC-raw=-1.663;GenoCanyon_score=0.177;GenoCanyon_score_rankscore=0.178;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-9.25;GERP++_RS_rankscore=0.006;phyloP100way_vertebrate=-0.974;phyloP100way_vertebrate_rankscore=0.039;phyloP20way_mammalian=-0.282;phyloP20way_mammalian_rankscore=0.084;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.093;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=0.941;SiPhy_29way_logOdds_rankscore=0.013;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0025;AF_male=0.0014;AF_female=0.0012;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.001423;Kaviar_AC=220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74808631 rs34521608 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19374;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.C788T:p.P263L,FPGT-TNNI3K:NM_001112808:exon10:c.C1130T:p.P377L,FPGT-TNNI3K:NM_001199327:exon10:c.C1130T:p.P377L;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34521608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.722;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.403;Polyphen2_HVAR_rankscore=0.662;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.055;MutationAssessor_score_rankscore=0.049;MutationAssessor_pred=N;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.582;PROVEAN_pred=N;VEST3_score=0.94;VEST3_rankscore=0.934;MetaSVM_score=-0.610;MetaSVM_rankscore=0.644;MetaSVM_pred=T;MetaLR_score=0.262;MetaLR_rankscore=0.633;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.727;M-CAP_pred=D;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.184;CADD_raw_rankscore=0.700;CADD_phred=25.5;DANN_score=0.998;DANN_rankscore=0.924;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.297;Eigen-PC-raw=0.370;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=7.467;phyloP100way_vertebrate_rankscore=0.798;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.248;phastCons20way_mammalian_rankscore=0.227;SiPhy_29way_logOdds=19.993;SiPhy_29way_logOdds_rankscore=0.974;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0090;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0009;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0022315;Kaviar_AC=345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.291731;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74818872 rs59924195 G A 100 PASS AC=6;AF=0.0535144;AN=214;NS=2504;DP=21309;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.1074;EUR_AF=0.0517;SAS_AF=0.0337;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59924195;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0651;AF_popmax=0.0910;AF_male=0.0638;AF_female=0.0667;AF_raw=0.0652;AF_afr=0.0910;AF_sas=.;AF_amr=0.0581;AF_eas=0.0013;AF_nfe=0.0585;AF_fin=0.0648;AF_asj=0.0207;AF_oth=0.0604;non_topmed_AF_popmax=0.0913;non_neuro_AF_popmax=0.0878;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0105238;Kaviar_AC=1627;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74819077 rs6424586 T G 100 PASS AC=208;AF=0.939097;AN=214;NS=2504;DP=18623;EAS_AF=1;AMR_AF=0.938;AFR_AF=0.8661;EUR_AF=0.9483;SAS_AF=0.9663;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.939097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6424586;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9423;ExAC_nontcga_ALL=0.9429;ExAC_nontcga_AFR=0.8887;ExAC_nontcga_AMR=0.9295;ExAC_nontcga_EAS=0.9982;ExAC_nontcga_FIN=0.9186;ExAC_nontcga_NFE=0.9435;ExAC_nontcga_OTH=0.9373;ExAC_nontcga_SAS=0.9636;AF=0.9273;AF_popmax=0.9987;AF_male=0.9282;AF_female=0.9261;AF_raw=0.9268;AF_afr=0.8822;AF_sas=.;AF_amr=0.9394;AF_eas=0.9987;AF_nfe=0.9416;AF_fin=0.9350;AF_asj=0.9793;AF_oth=0.9355;non_topmed_AF_popmax=0.9987;non_neuro_AF_popmax=0.9987;non_cancer_AF_popmax=.;controls_AF_popmax=0.9978;Kaviar_AF=0.924555;Kaviar_AC=142938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 74832855 rs569312228 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19271;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569312228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0042;AF_male=0.0026;AF_female=0.0022;AF_raw=0.0025;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74833505 rs187933438 G A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=15525;EAS_AF=0.0169;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187933438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0189;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0189;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0187;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0223;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74836154 rs6698326 T G 100 PASS AC=6;AF=0.0535144;AN=214;NS=2504;DP=18076;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.1067;EUR_AF=0.0517;SAS_AF=0.0348;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6698326;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0654;AF_popmax=0.0912;AF_male=0.0641;AF_female=0.0670;AF_raw=0.0653;AF_afr=0.0912;AF_sas=.;AF_amr=0.0592;AF_eas=0.0013;AF_nfe=0.0588;AF_fin=0.0650;AF_asj=0.0207;AF_oth=0.0607;non_topmed_AF_popmax=0.0916;non_neuro_AF_popmax=0.0895;non_cancer_AF_popmax=.;controls_AF_popmax=0.0900;Kaviar_AF=0.0104397;Kaviar_AC=1614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74901739 rs533006110 CT C 100 PASS AC=119;AF=0.540335;AN=214;NS=2504;DP=15001;EAS_AF=0.6002;AMR_AF=0.5648;AFR_AF=0.4463;EUR_AF=0.5626;SAS_AF=0.5654;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533006110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1307;ExAC_nontcga_AFR=0.1483;ExAC_nontcga_AMR=0.1097;ExAC_nontcga_EAS=0.0847;ExAC_nontcga_FIN=0.1891;ExAC_nontcga_NFE=0.1365;ExAC_nontcga_OTH=0.1566;ExAC_nontcga_SAS=0.1092;AF=0.5500;AF_popmax=0.8194;AF_male=0.5506;AF_female=0.5492;AF_raw=0.4739;AF_afr=0.1987;AF_sas=.;AF_amr=0.6943;AF_eas=0.8194;AF_nfe=0.7325;AF_fin=0.4348;AF_asj=0.7337;AF_oth=0.6826;non_topmed_AF_popmax=0.8207;non_neuro_AF_popmax=0.8194;non_cancer_AF_popmax=.;controls_AF_popmax=0.8212;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|0 1|0 0|1 0|1 1|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|1 0|0 1|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|0 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|1 1|1 0|1 0|0 0|1 1|0 0|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|0 1|0 1|0 +1 74901829 rs45589143 A C 100 PASS AC=8;AF=0.0776757;AN=214;NS=2504;DP=15304;EAS_AF=0;AMR_AF=0.0836;AFR_AF=0.1944;EUR_AF=0.0527;SAS_AF=0.0215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0776757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45589143;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.06;ExAC_nontcga_ALL=0.0656;ExAC_nontcga_AFR=0.1780;ExAC_nontcga_AMR=0.0935;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0530;ExAC_nontcga_NFE=0.0616;ExAC_nontcga_OTH=0.0648;ExAC_nontcga_SAS=0.0344;AF=0.0868;AF_popmax=0.1744;AF_male=0.0853;AF_female=0.0886;AF_raw=0.0890;AF_afr=0.1744;AF_sas=.;AF_amr=0.0663;AF_eas=0;AF_nfe=0.0596;AF_fin=0.0451;AF_asj=0.0382;AF_oth=0.0597;non_topmed_AF_popmax=0.1749;non_neuro_AF_popmax=0.1760;non_cancer_AF_popmax=.;controls_AF_popmax=0.1777;Kaviar_AF=0.0636085;Kaviar_AC=9834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74902244 rs41289200 A G 100 PASS AC=8;AF=0.0662939;AN=214;NS=2504;DP=16211;EAS_AF=0;AMR_AF=0.0821;AFR_AF=0.152;EUR_AF=0.0527;SAS_AF=0.0215;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0662939;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0619;ExAC_nontcga_ALL=0.0631;ExAC_nontcga_AFR=0.1466;ExAC_nontcga_AMR=0.0934;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0534;ExAC_nontcga_NFE=0.0621;ExAC_nontcga_OTH=0.0640;ExAC_nontcga_SAS=0.0342;AF=0.0809;AF_popmax=0.1472;AF_male=0.0786;AF_female=0.0838;AF_raw=0.0809;AF_afr=0.1472;AF_sas=.;AF_amr=0.0697;AF_eas=0;AF_nfe=0.0619;AF_fin=0.0478;AF_asj=0.0379;AF_oth=0.0625;non_topmed_AF_popmax=0.1479;non_neuro_AF_popmax=0.1473;non_cancer_AF_popmax=.;controls_AF_popmax=0.1506;Kaviar_AF=0.0607301;Kaviar_AC=9389;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.654677;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74929048 rs45524636 T G 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=20448;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45524636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0069;AF_popmax=0.0093;AF_male=0.0074;AF_female=0.0062;AF_raw=0.0069;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0144;AF_asj=0.0138;AF_oth=0.0092;non_topmed_AF_popmax=0.0098;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0125;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 74929075 rs3737563 T C 100 PASS AC=3;AF=0.0660942;AN=214;NS=2504;DP=19349;EAS_AF=0.1329;AMR_AF=0.0187;AFR_AF=0.0893;EUR_AF=0.008;SAS_AF=0.0593;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3737563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0292;ExAC_nontcga_AFR=0.0713;ExAC_nontcga_AMR=0.0152;ExAC_nontcga_EAS=0.1319;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0491;AF=0.0297;AF_popmax=0.1142;AF_male=0.0317;AF_female=0.0272;AF_raw=0.0298;AF_afr=0.0734;AF_sas=.;AF_amr=0.0130;AF_eas=0.1142;AF_nfe=0.0056;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.1132;non_neuro_AF_popmax=0.1142;non_cancer_AF_popmax=.;controls_AF_popmax=0.1083;Kaviar_AF=0.0267849;Kaviar_AC=4141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74929131 rs140963906 C G 100 PASS AC=3;AF=0.00858626;AN=214;NS=2504;DP=18059;EAS_AF=0.0099;AMR_AF=0.0173;AFR_AF=0.0061;EUR_AF=0.0129;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon21:c.C2018G:p.A673G,FPGT-TNNI3K:NM_001112808:exon23:c.C2360G:p.A787G,FPGT-TNNI3K:NM_001199327:exon23:c.C2360G:p.A787G;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140963906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.925;MutationAssessor_score_rankscore=0.515;MutationAssessor_pred=L;FATHMM_score=-1.71;FATHMM_converted_rankscore=0.832;FATHMM_pred=D;PROVEAN_score=-3.11;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.63;VEST3_rankscore=0.658;MetaSVM_score=0.343;MetaSVM_rankscore=0.882;MetaSVM_pred=D;MetaLR_score=0.661;MetaLR_rankscore=0.882;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.538;REVEL_rankscore=0.809;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.930;CADD_raw_rankscore=0.933;CADD_phred=33;DANN_score=0.998;DANN_rankscore=0.863;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.715;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.768;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=5.643;phyloP100way_vertebrate_rankscore=0.673;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.768;phastCons20way_mammalian_rankscore=0.327;SiPhy_29way_logOdds=19.889;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain|Serine-threonine/tyrosine-protein_kinase,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.903e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.509553;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74954856 rs45592143 C CT 100 PASS AC=4;AF=0.081869;AN=214;NS=2504;DP=16674;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.2685;EUR_AF=0.0159;SAS_AF=0.0092;AA=TTTTTT|TTTTTT|TTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397897537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0168;ExAC_nontcga_ALL=0.0333;ExAC_nontcga_AFR=0.2635;ExAC_nontcga_AMR=0.0194;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0349;ExAC_nontcga_SAS=0.0127;AF=0.0805;AF_popmax=0.2617;AF_male=0.0848;AF_female=0.0751;AF_raw=0.0807;AF_afr=0.2617;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0049;AF_asj=0.0207;AF_oth=0.0221;non_topmed_AF_popmax=0.2625;non_neuro_AF_popmax=0.2579;non_cancer_AF_popmax=.;controls_AF_popmax=0.2559;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74957896 rs201340993 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17313;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon23:c.G2297C:p.R766P,FPGT-TNNI3K:NM_001112808:exon25:c.G2639C:p.R880P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201340993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.15;SIFT_converted_rankscore=0.246;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.608;Polyphen2_HVAR_rankscore=0.586;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-0.87;FATHMM_converted_rankscore=0.746;FATHMM_pred=T;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.902;VEST3_rankscore=0.894;MetaSVM_score=-0.495;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.298;MetaLR_rankscore=0.669;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.640;M-CAP_pred=D;REVEL_score=0.338;REVEL_rankscore=0.664;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.042;CADD_raw_rankscore=0.939;CADD_phred=33;DANN_score=0.995;DANN_rankscore=0.655;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.735;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.440;Eigen-PC-raw=0.474;GenoCanyon_score=0.955;GenoCanyon_score_rankscore=0.281;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.78;GERP++_RS_rankscore=0.605;phyloP100way_vertebrate=6.257;phyloP100way_vertebrate_rankscore=0.722;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=14.531;SiPhy_29way_logOdds_rankscore=0.674;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.773e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.374e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.168821;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75005984 rs138969829 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5744;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon24:c.C2418T:p.P806P,FPGT-TNNI3K:NM_001112808:exon26:c.C2760T:p.P920P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138969829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.898e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.128939;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75006027 rs3895907 A G 100 PASS AC=120;AF=0.324481;AN=214;NS=2504;DP=13220;EAS_AF=0.1468;AMR_AF=0.3847;AFR_AF=0.1936;EUR_AF=0.5487;SAS_AF=0.411;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.324481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3895907;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5560;ExAC_nontcga_ALL=0.4474;ExAC_nontcga_AFR=0.2184;ExAC_nontcga_AMR=0.3366;ExAC_nontcga_EAS=0.1537;ExAC_nontcga_FIN=0.4781;ExAC_nontcga_NFE=0.5594;ExAC_nontcga_OTH=0.4488;ExAC_nontcga_SAS=0.4035;AF=0.4324;AF_popmax=0.5647;AF_male=0.4290;AF_female=0.4367;AF_raw=0.4325;AF_afr=0.2180;AF_sas=.;AF_amr=0.3771;AF_eas=0.1789;AF_nfe=0.5647;AF_fin=0.4781;AF_asj=0.5414;AF_oth=0.5046;non_topmed_AF_popmax=0.5689;non_neuro_AF_popmax=0.5649;non_cancer_AF_popmax=.;controls_AF_popmax=0.5833;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|0 0|1 0|0 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|0 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|1 0|0 1|0 +1 75006076 rs3845348 G A 100 PASS AC=204;AF=0.916334;AN=214;NS=2504;DP=16269;EAS_AF=0.8938;AMR_AF=0.9597;AFR_AF=0.8737;EUR_AF=0.9642;SAS_AF=0.9172;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.916334;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3845348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9363;AF_popmax=0.9606;AF_male=0.9378;AF_female=0.9345;AF_raw=0.9361;AF_afr=0.8941;AF_sas=.;AF_amr=0.9409;AF_eas=0.8808;AF_nfe=0.9606;AF_fin=0.9567;AF_asj=0.9414;AF_oth=0.9389;non_topmed_AF_popmax=0.9580;non_neuro_AF_popmax=0.9599;non_cancer_AF_popmax=.;controls_AF_popmax=0.9543;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +1 75009539 rs190079226 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20872;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190079226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.579e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.866e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75009749 rs183224073 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17076;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=NM_001112808:c.*83A>G\x3bNM_015978:c.*83A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183224073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.637970;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78383467 rs1749913 G A 100 PASS AC=189;AF=0.763778;AN=214;NS=2504;DP=16444;EAS_AF=0.7669;AMR_AF=0.7579;AFR_AF=0.7095;EUR_AF=0.8708;SAS_AF=0.728;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.763778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1749913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8608;ExAC_nontcga_ALL=0.8073;ExAC_nontcga_AFR=0.7414;ExAC_nontcga_AMR=0.7129;ExAC_nontcga_EAS=0.8044;ExAC_nontcga_FIN=0.7690;ExAC_nontcga_NFE=0.8610;ExAC_nontcga_OTH=0.8104;ExAC_nontcga_SAS=0.7482;AF=0.8093;AF_popmax=0.8547;AF_male=0.8058;AF_female=0.8136;AF_raw=0.8088;AF_afr=0.7447;AF_sas=.;AF_amr=0.7476;AF_eas=0.8207;AF_nfe=0.8547;AF_fin=0.7792;AF_asj=0.8310;AF_oth=0.8039;non_topmed_AF_popmax=0.8531;non_neuro_AF_popmax=0.8546;non_cancer_AF_popmax=.;controls_AF_popmax=0.8433;Kaviar_AF=0.788858;Kaviar_AC=121959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.448456;ALLELE_END GT 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 +1 78383669 rs199720912 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon3:c.G52C:p.D18H,NEXN:NM_144573:exon4:c.G244C:p.D82H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199720912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.907;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.633;Polyphen2_HVAR_rankscore=0.598;Polyphen2_HVAR_pred=P;LRT_score=0.042;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.51;MutationAssessor_score_rankscore=0.734;MutationAssessor_pred=M;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.420;PROVEAN_pred=N;VEST3_score=0.271;VEST3_rankscore=0.329;MetaSVM_score=-0.064;MetaSVM_rankscore=0.809;MetaSVM_pred=T;MetaLR_score=0.486;MetaLR_rankscore=0.804;MetaLR_pred=T;M-CAP_score=0.048;M-CAP_rankscore=0.633;M-CAP_pred=D;REVEL_score=0.263;REVEL_rankscore=0.580;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.175;CADD_raw_rankscore=0.698;CADD_phred=25.5;DANN_score=0.996;DANN_rankscore=0.761;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.921;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.733;Eigen-PC-raw=0.761;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.75;GERP++_RS_rankscore=0.904;phyloP100way_vertebrate=7.401;phyloP100way_vertebrate_rankscore=0.790;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.305;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.483e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.825396;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78383732 rs557550792 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 78390821 rs200727461 CA C 100 PASS 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GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 78391020 rs76684082 T C 100 PASS AC=4;AF=0.0341454;AN=214;NS=2504;DP=13803;EAS_AF=0.0367;AMR_AF=0.0115;AFR_AF=0.0499;EUR_AF=0.0249;SAS_AF=0.0358;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76684082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0321;AF_popmax=0.05;AF_male=0.0328;AF_female=0.0312;AF_raw=0.0321;AF_afr=0.0498;AF_sas=.;AF_amr=0.0165;AF_eas=0.05;AF_nfe=0.0174;AF_fin=0.0484;AF_asj=0.0345;AF_oth=0.0313;non_topmed_AF_popmax=0.0512;non_neuro_AF_popmax=0.0514;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.131935;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78392446 rs1166698 G A 100 PASS AC=48;AF=0.150759;AN=214;NS=2504;DP=17088;EAS_AF=0.38;AMR_AF=0.1167;AFR_AF=0.0106;EUR_AF=0.2107;SAS_AF=0.0665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;1000g2015aug_all=0.150759;GWAS=rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370;ORegAnno_REGULATORY_P=rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370;avsnp150=rs1166698;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.546;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=3.37;MutationAssessor_score_rankscore=0.915;MutationAssessor_pred=M;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.501;PROVEAN_pred=N;VEST3_score=0.197;VEST3_rankscore=0.479;MetaSVM_score=-0.291;MetaSVM_rankscore=0.753;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_rankscore=0.791;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.371;REVEL_rankscore=0.694;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.664;CADD_raw_rankscore=0.772;CADD_phred=26.7;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.943;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.866;Eigen-PC-raw=0.839;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.64;GERP++_RS_rankscore=0.864;phyloP100way_vertebrate=9.356;phyloP100way_vertebrate_rankscore=0.965;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=19.694;SiPhy_29way_logOdds_rankscore=0.960;Interpro_domain=.;GTEx_V6p_gene=ENSG00000162614.14|ENSG00000162616.8|ENSG00000137960.5|ENSG00000162616.8|ENSG00000137960.5|ENSG00000162616.8|ENSG00000137960.5;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2073;ExAC_nontcga_ALL=0.1829;ExAC_nontcga_AFR=0.0345;ExAC_nontcga_AMR=0.1432;ExAC_nontcga_EAS=0.3999;ExAC_nontcga_FIN=0.1704;ExAC_nontcga_NFE=0.2162;ExAC_nontcga_OTH=0.1667;ExAC_nontcga_SAS=0.0784;AF=0.1651;AF_popmax=0.4;AF_male=0.1637;AF_female=0.1669;AF_raw=0.1652;AF_afr=0.0388;AF_sas=.;AF_amr=0.1635;AF_eas=0.4;AF_nfe=0.2103;AF_fin=0.1747;AF_asj=0.1897;AF_oth=0.1651;non_topmed_AF_popmax=0.4008;non_neuro_AF_popmax=0.4;non_cancer_AF_popmax=.;controls_AF_popmax=0.4143;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000008757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.839430;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 +1 78394997 rs542794485 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17093;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542794485;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.564e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.864e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.612935;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78399207 rs4483454 C G 100 PASS AC=172;AF=0.664537;AN=214;NS=2504;DP=14270;EAS_AF=0.7669;AMR_AF=0.6916;AFR_AF=0.4327;EUR_AF=0.8131;SAS_AF=0.7004;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.664537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4483454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8166;ExAC_nontcga_ALL=0.7568;ExAC_nontcga_AFR=0.4958;ExAC_nontcga_AMR=0.6784;ExAC_nontcga_EAS=0.8108;ExAC_nontcga_FIN=0.7559;ExAC_nontcga_NFE=0.8178;ExAC_nontcga_OTH=0.7780;ExAC_nontcga_SAS=0.7263;AF=0.7146;AF_popmax=0.8194;AF_male=0.7097;AF_female=0.7207;AF_raw=0.7139;AF_afr=0.4944;AF_sas=.;AF_amr=0.6986;AF_eas=0.8194;AF_nfe=0.8149;AF_fin=0.7643;AF_asj=0.7535;AF_oth=0.7472;non_topmed_AF_popmax=0.8188;non_neuro_AF_popmax=0.8194;non_cancer_AF_popmax=.;controls_AF_popmax=0.8297;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 +1 78399212 rs41312654 T C 100 PASS AC=17;AF=0.0944489;AN=214;NS=2504;DP=14472;EAS_AF=0;AMR_AF=0.0634;AFR_AF=0.2595;EUR_AF=0.0577;SAS_AF=0.0286;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0944489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0686;ExAC_nontcga_AFR=0.3047;ExAC_nontcga_AMR=0.0504;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0612;ExAC_nontcga_OTH=0.0372;ExAC_nontcga_SAS=0.0292;AF=0.0884;AF_popmax=0.2282;AF_male=0.0897;AF_female=0.0868;AF_raw=0.0884;AF_afr=0.2282;AF_sas=.;AF_amr=0.0485;AF_eas=0;AF_nfe=0.0396;AF_fin=0.0145;AF_asj=0.0828;AF_oth=0.0572;non_topmed_AF_popmax=0.2288;non_neuro_AF_popmax=0.2210;non_cancer_AF_popmax=.;controls_AF_popmax=0.2196;Kaviar_AF=0.0485311;Kaviar_AC=7503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 78407911 rs147422621 C G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=18472;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147422621;CLNALLELEID=142215;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0032;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0057;AF=0.0023;AF_popmax=0.0038;AF_male=0.0026;AF_female=0.0019;AF_raw=0.0023;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0027555;Kaviar_AC=426;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1242724|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.932182;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78408536 rs3767028 C G 100 PASS AC=16;AF=0.122005;AN=214;NS=2504;DP=17249;EAS_AF=0.0903;AMR_AF=0.1988;AFR_AF=0.1271;EUR_AF=0.0775;SAS_AF=0.1391;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=NEXN;GeneDetail.refGene=NM_001172309:c.*22C>G\x3bNM_144573:c.*22C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3767028;CLNALLELEID=281843;CLNDN=Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0849;ExAC_nontcga_ALL=0.1537;ExAC_nontcga_AFR=0.1341;ExAC_nontcga_AMR=0.3100;ExAC_nontcga_EAS=0.1370;ExAC_nontcga_FIN=0.2046;ExAC_nontcga_NFE=0.1187;ExAC_nontcga_OTH=0.1728;ExAC_nontcga_SAS=0.1326;AF=0.1039;AF_popmax=0.2231;AF_male=0.1050;AF_female=0.1025;AF_raw=0.1040;AF_afr=0.1058;AF_sas=.;AF_amr=0.2231;AF_eas=0.0799;AF_nfe=0.0856;AF_fin=0.1556;AF_asj=0.1034;AF_oth=0.125;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2077;non_cancer_AF_popmax=.;controls_AF_popmax=0.2254;Kaviar_AF=0.0998111;Kaviar_AC=15431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352839;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 +1 112318945 rs540669131 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18658;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540669131;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368797|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.612548;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112319899 rs72548732 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=21795;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72548732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.36e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.583364;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112320984 rs116457688 G A 100 PASS AC=1;AF=0.0285543;AN=214;NS=2504;DP=18510;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1021;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116457688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0217;AF_popmax=0.0755;AF_male=0.0214;AF_female=0.0221;AF_raw=0.0217;AF_afr=0.0755;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.0751;non_neuro_AF_popmax=0.0794;non_cancer_AF_popmax=.;controls_AF_popmax=0.0771;Kaviar_AF=0.0086061;Kaviar_AC=224;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368799|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.627817;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112321032 rs640029 T A 100 PASS AC=26;AF=0.192692;AN=214;NS=2504;DP=19328;EAS_AF=0.0367;AMR_AF=0.134;AFR_AF=0.3865;EUR_AF=0.1958;SAS_AF=0.1299;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192692;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs640029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1974;ExAC_nontcga_ALL=0.1777;ExAC_nontcga_AFR=0.3485;ExAC_nontcga_AMR=0.0758;ExAC_nontcga_EAS=0.0407;ExAC_nontcga_FIN=0.2158;ExAC_nontcga_NFE=0.1952;ExAC_nontcga_OTH=0.1484;ExAC_nontcga_SAS=0.1467;AF=0.2350;AF_popmax=0.3387;AF_male=0.2325;AF_female=0.2383;AF_raw=0.2350;AF_afr=0.3387;AF_sas=.;AF_amr=0.1262;AF_eas=0.0423;AF_nfe=0.2084;AF_fin=0.2301;AF_asj=0.1172;AF_oth=0.1961;non_topmed_AF_popmax=0.3387;non_neuro_AF_popmax=0.3414;non_cancer_AF_popmax=.;controls_AF_popmax=0.3406;Kaviar_AF=0.180444;Kaviar_AC=27897;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.217803::0.231799;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368799|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.550118;ALLELE_END GT 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 112329551 rs3738298 G T 100 PASS AC=35;AF=0.192692;AN=214;NS=2504;DP=21453;EAS_AF=0.2272;AMR_AF=0.1095;AFR_AF=0.205;EUR_AF=0.162;SAS_AF=0.2311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192692;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738298;CLNALLELEID=249363;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1417;ExAC_nontcga_ALL=0.1664;ExAC_nontcga_AFR=0.1791;ExAC_nontcga_AMR=0.1112;ExAC_nontcga_EAS=0.2076;ExAC_nontcga_FIN=0.2098;ExAC_nontcga_NFE=0.1486;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.2177;AF=0.1716;AF_popmax=0.2050;AF_male=0.1719;AF_female=0.1713;AF_raw=0.1721;AF_afr=0.1887;AF_sas=.;AF_amr=0.1380;AF_eas=0.2050;AF_nfe=0.1555;AF_fin=0.1993;AF_asj=0.1379;AF_oth=0.1627;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.2050;non_cancer_AF_popmax=.;controls_AF_popmax=0.2090;Kaviar_AF=0.161634;Kaviar_AC=24989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.047328;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 112524467 rs192078928 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14493;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C882G:p.V294V,KCND3:NM_172198:exon2:c.C882G:p.V294V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192078928;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.758332;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112524583 rs199641587 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C766T:p.R256C,KCND3:NM_172198:exon2:c.C766T:p.R256C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199641587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_rankscore=0.722;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-5.25;FATHMM_converted_rankscore=0.989;FATHMM_pred=D;PROVEAN_score=-6.16;PROVEAN_converted_rankscore=0.913;PROVEAN_pred=D;VEST3_score=0.92;VEST3_rankscore=0.911;MetaSVM_score=1.096;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.962;MetaLR_rankscore=0.988;MetaLR_pred=D;M-CAP_score=0.431;M-CAP_rankscore=0.940;M-CAP_pred=D;REVEL_score=0.866;REVEL_rankscore=0.960;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.470;CADD_raw_rankscore=0.892;CADD_phred=29.9;DANN_score=0.999;DANN_rankscore=0.969;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.707;Eigen-PC-raw=0.674;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.414;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=2.228;phyloP100way_vertebrate_rankscore=0.424;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.336;SiPhy_29way_logOdds_rankscore=0.542;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.769855;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112524680 rs17215423 C G 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=16899;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0023;EUR_AF=0.0258;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G669C:p.S223S,KCND3:NM_172198:exon2:c.G669C:p.S223S;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215423;CLNALLELEID=238121;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0265;ExAC_nontcga_NFE=0.0200;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0014;AF=0.0187;AF_popmax=0.0255;AF_male=0.0177;AF_female=0.0200;AF_raw=0.0188;AF_afr=0.0040;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0255;AF_fin=0.0354;AF_asj=0;AF_oth=0.025;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0249;non_cancer_AF_popmax=.;controls_AF_popmax=0.0266;Kaviar_AF=0.0141395;Kaviar_AC=2186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.770690;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112525085 rs17221819 G A 100 PASS AC=14;AF=0.0471246;AN=214;NS=2504;DP=19504;EAS_AF=0.002;AMR_AF=0.0519;AFR_AF=0.0356;EUR_AF=0.1034;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C264T:p.P88P,KCND3:NM_172198:exon2:c.C264T:p.P88P;1000g2015aug_all=0.0471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17221819;CLNALLELEID=134760;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1205;ExAC_nontcga_ALL=0.0866;ExAC_nontcga_AFR=0.0444;ExAC_nontcga_AMR=0.0392;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0677;ExAC_nontcga_NFE=0.1249;ExAC_nontcga_OTH=0.0910;ExAC_nontcga_SAS=0.0640;AF=0.0819;AF_popmax=0.1159;AF_male=0.0809;AF_female=0.0832;AF_raw=0.0819;AF_afr=0.0453;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.1159;AF_fin=0.0633;AF_asj=0.0793;AF_oth=0.0965;non_topmed_AF_popmax=0.1149;non_neuro_AF_popmax=0.1150;non_cancer_AF_popmax=.;controls_AF_popmax=0.1051;Kaviar_AF=0.0906068;Kaviar_AC=14008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.749781;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 115252142 rs201075907 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19955;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201075907;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.365687;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115252280 rs143020946 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16559;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NRAS:NM_002524:exon4:c.G360A:p.L120L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143020946;CLNALLELEID=48946;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.689718;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115256669 rs969273 G A 100 PASS AC=144;AF=0.8752;AN=214;NS=2504;DP=14664;EAS_AF=0.999;AMR_AF=0.8213;AFR_AF=0.9803;EUR_AF=0.67;SAS_AF=0.8548;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.8752;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs969273;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7505;AF_popmax=0.9994;AF_male=0.7556;AF_female=0.7441;AF_raw=0.7503;AF_afr=0.9358;AF_sas=.;AF_amr=0.8196;AF_eas=0.9994;AF_nfe=0.6349;AF_fin=0.6934;AF_asj=0.6207;AF_oth=0.7103;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.124346;ALLELE_END GT 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|0 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 +1 115258827 rs577550086 T G 100 PASS AC=46;AF=0.202276;AN=214;NS=2504;DP=19673;EAS_AF=0.3234;AMR_AF=0.2233;AFR_AF=0.1392;EUR_AF=0.2594;SAS_AF=0.089;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.202276;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577550086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0171;ExAC_nontcga_AMR=0.0201;ExAC_nontcga_EAS=0.0195;ExAC_nontcga_FIN=0.0182;ExAC_nontcga_NFE=0.0049;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0024;AF=3.188e-05;AF_popmax=6.491e-05;AF_male=0;AF_female=7.186e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.035e-05;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0136221;Kaviar_AC=2106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000011708|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.361805;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115258830 rs538668088 C G 100 PASS AC=46;AF=0.221446;AN=214;NS=2504;DP=18704;EAS_AF=0.3313;AMR_AF=0.2334;AFR_AF=0.1762;EUR_AF=0.2644;SAS_AF=0.1166;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538668088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0822;ExAC_nontcga_AFR=0.1469;ExAC_nontcga_AMR=0.1832;ExAC_nontcga_EAS=0.1758;ExAC_nontcga_FIN=0.2135;ExAC_nontcga_NFE=0.0543;ExAC_nontcga_OTH=0.0693;ExAC_nontcga_SAS=0.0221;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0638284;Kaviar_AC=9868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000011708|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.361805;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116243868 rs28730711 A G 100 PASS AC=14;AF=0.0309505;AN=214;NS=2504;DP=23283;EAS_AF=0;AMR_AF=0.0865;AFR_AF=0.0015;EUR_AF=0.0537;SAS_AF=0.0399;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.T1194C:p.D398D;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730711;CLNALLELEID=53327;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0614;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.0974;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0463;ExAC_nontcga_NFE=0.0625;ExAC_nontcga_OTH=0.0432;ExAC_nontcga_SAS=0.0438;AF=0.0471;AF_popmax=0.0865;AF_male=0.0466;AF_female=0.0476;AF_raw=0.0470;AF_afr=0.0110;AF_sas=.;AF_amr=0.0865;AF_eas=0;AF_nfe=0.0683;AF_fin=0.0469;AF_asj=0.0552;AF_oth=0.0699;non_topmed_AF_popmax=0.0868;non_neuro_AF_popmax=0.0909;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.0529683;Kaviar_AC=8189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698690;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 116243877 rs7413162 G A 100 PASS AC=106;AF=0.425719;AN=214;NS=2504;DP=23773;EAS_AF=0.3224;AMR_AF=0.464;AFR_AF=0.4599;EUR_AF=0.4135;SAS_AF=0.4714;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;1000g2015aug_all=0.425719;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7413162;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3573;ExAC_nontcga_ALL=0.3855;ExAC_nontcga_AFR=0.4555;ExAC_nontcga_AMR=0.4518;ExAC_nontcga_EAS=0.3014;ExAC_nontcga_FIN=0.4079;ExAC_nontcga_NFE=0.3609;ExAC_nontcga_OTH=0.3934;ExAC_nontcga_SAS=0.4128;AF=0.3861;AF_popmax=0.4458;AF_male=0.3830;AF_female=0.3899;AF_raw=0.3860;AF_afr=0.4458;AF_sas=.;AF_amr=0.4384;AF_eas=0.2458;AF_nfe=0.3610;AF_fin=0.3937;AF_asj=0.3993;AF_oth=0.3958;non_topmed_AF_popmax=0.4464;non_neuro_AF_popmax=0.4489;non_cancer_AF_popmax=.;controls_AF_popmax=0.4476;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771213;ALLELE_END GT 1|1 0|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 1|0 1|1 +1 116245655 rs12402684 G C 100 PASS AC=61;AF=0.216054;AN=214;NS=2504;DP=18592;EAS_AF=0.1964;AMR_AF=0.2695;AFR_AF=0.1248;EUR_AF=0.2306;SAS_AF=0.3067;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216054;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12402684;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2029;ExAC_nontcga_ALL=0.2352;ExAC_nontcga_AFR=0.1519;ExAC_nontcga_AMR=0.2967;ExAC_nontcga_EAS=0.1685;ExAC_nontcga_FIN=0.2458;ExAC_nontcga_NFE=0.2322;ExAC_nontcga_OTH=0.2340;ExAC_nontcga_SAS=0.2810;AF=0.1925;AF_popmax=0.2429;AF_male=0.1889;AF_female=0.1972;AF_raw=0.1926;AF_afr=0.1403;AF_sas=.;AF_amr=0.2429;AF_eas=0.1245;AF_nfe=0.2199;AF_fin=0.2112;AF_asj=0.2103;AF_oth=0.2160;non_topmed_AF_popmax=0.2370;non_neuro_AF_popmax=0.2419;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.196233;Kaviar_AC=30338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489158|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.527187;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 +1 116247790 rs3811003 G A 100 PASS AC=60;AF=0.428714;AN=214;NS=2504;DP=17300;EAS_AF=0.5198;AMR_AF=0.3487;AFR_AF=0.6142;EUR_AF=0.3022;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3811003;CLNALLELEID=249368;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3197;ExAC_nontcga_ALL=0.3506;ExAC_nontcga_AFR=0.5694;ExAC_nontcga_AMR=0.3723;ExAC_nontcga_EAS=0.5193;ExAC_nontcga_FIN=0.2995;ExAC_nontcga_NFE=0.3097;ExAC_nontcga_OTH=0.3329;ExAC_nontcga_SAS=0.2915;AF=0.3845;AF_popmax=0.5645;AF_male=0.3920;AF_female=0.3751;AF_raw=0.3844;AF_afr=0.5645;AF_sas=.;AF_amr=0.3827;AF_eas=0.5206;AF_nfe=0.2944;AF_fin=0.2988;AF_asj=0.2690;AF_oth=0.3321;non_topmed_AF_popmax=0.5647;non_neuro_AF_popmax=0.5680;non_cancer_AF_popmax=.;controls_AF_popmax=0.5595;Kaviar_AF=0.342441;Kaviar_AC=52942;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 +1 116260532 rs2997741 A T 100 PASS AC=134;AF=0.642772;AN=214;NS=2504;DP=21260;EAS_AF=0.6706;AMR_AF=0.6383;AFR_AF=0.7057;EUR_AF=0.5656;SAS_AF=0.6115;AA=T|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.642772;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2997741;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5505;ExAC_nontcga_ALL=0.5832;ExAC_nontcga_AFR=0.6906;ExAC_nontcga_AMR=0.6427;ExAC_nontcga_EAS=0.6506;ExAC_nontcga_FIN=0.5576;ExAC_nontcga_NFE=0.5446;ExAC_nontcga_OTH=0.5821;ExAC_nontcga_SAS=0.5889;AF=0.5870;AF_popmax=0.6888;AF_male=0.5885;AF_female=0.5850;AF_raw=0.5870;AF_afr=0.6888;AF_sas=.;AF_amr=0.6327;AF_eas=0.6195;AF_nfe=0.5360;AF_fin=0.5460;AF_asj=0.5241;AF_oth=0.5592;non_topmed_AF_popmax=0.6888;non_neuro_AF_popmax=0.6842;non_cancer_AF_popmax=.;controls_AF_popmax=0.6842;Kaviar_AF=0.573414;Kaviar_AC=88651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.848888;ALLELE_END GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116260544 rs3811001 C T 100 PASS AC=74;AF=0.250799;AN=214;NS=2504;DP=21408;EAS_AF=0.1825;AMR_AF=0.2824;AFR_AF=0.2375;EUR_AF=0.2555;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3811001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2274;ExAC_nontcga_ALL=0.2366;ExAC_nontcga_AFR=0.2191;ExAC_nontcga_AMR=0.2716;ExAC_nontcga_EAS=0.1575;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.2309;ExAC_nontcga_OTH=0.2428;ExAC_nontcga_SAS=0.2796;AF=0.2237;AF_popmax=0.2725;AF_male=0.2194;AF_female=0.2291;AF_raw=0.2243;AF_afr=0.2071;AF_sas=.;AF_amr=0.2725;AF_eas=0.1393;AF_nfe=0.2373;AF_fin=0.2244;AF_asj=0.2172;AF_oth=0.2468;non_topmed_AF_popmax=0.2667;non_neuro_AF_popmax=0.26;non_cancer_AF_popmax=.;controls_AF_popmax=0.2764;Kaviar_AF=0.231912;Kaviar_AC=35854;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.991300;ALLELE_END GT 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 +1 116260604 rs2997742 G A 100 PASS AC=134;AF=0.630591;AN=214;NS=2504;DP=21435;EAS_AF=0.6706;AMR_AF=0.6326;AFR_AF=0.6626;EUR_AF=0.5656;SAS_AF=0.6115;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.630591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2997742;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5746;AF_popmax=0.6441;AF_male=0.5748;AF_female=0.5743;AF_raw=0.5741;AF_afr=0.6441;AF_sas=.;AF_amr=0.6280;AF_eas=0.6197;AF_nfe=0.5365;AF_fin=0.5461;AF_asj=0.5208;AF_oth=0.5580;non_topmed_AF_popmax=0.6442;non_neuro_AF_popmax=0.6440;non_cancer_AF_popmax=.;controls_AF_popmax=0.6392;Kaviar_AF=0.111221;Kaviar_AC=17195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.371601;ALLELE_END GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116268154 rs199571249 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15439;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon7:c.G758A:p.R253H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199571249;CLNALLELEID=172474;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.028;SIFT_converted_rankscore=0.461;SIFT_pred=D;Polyphen2_HDIV_score=0.165;Polyphen2_HDIV_rankscore=0.271;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.268;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=D;MutationAssessor_score=1.73;MutationAssessor_score_rankscore=0.448;MutationAssessor_pred=L;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.802;VEST3_rankscore=0.791;MetaSVM_score=-0.531;MetaSVM_rankscore=0.675;MetaSVM_pred=T;MetaLR_score=0.318;MetaLR_rankscore=0.688;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.304;M-CAP_pred=T;REVEL_score=0.406;REVEL_rankscore=0.722;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.979;CADD_raw_rankscore=0.822;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.947;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.740;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.208;Eigen-PC-raw=0.347;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=3.287;phyloP100way_vertebrate_rankscore=0.512;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.187;SiPhy_29way_logOdds_rankscore=0.936;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.468e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.216e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.464e-05;AF_popmax=0.0007;AF_male=0;AF_female=7.859e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915304;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116268178 rs542504128 GAA G 100 PASS AC=117;AF=0.505391;AN=214;NS=2504;DP=17973;EAS_AF=0.5208;AMR_AF=0.4798;AFR_AF=0.4977;EUR_AF=0.505;SAS_AF=0.5184;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.505391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542504128;CLNALLELEID=389309;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1059;ExAC_nontcga_AFR=0.0576;ExAC_nontcga_AMR=0.0773;ExAC_nontcga_EAS=0.0654;ExAC_nontcga_FIN=0.1213;ExAC_nontcga_NFE=0.1112;ExAC_nontcga_OTH=0.1351;ExAC_nontcga_SAS=0.1375;AF=0.4579;AF_popmax=0.5507;AF_male=0.4558;AF_female=0.4606;AF_raw=0.3628;AF_afr=0.3601;AF_sas=.;AF_amr=0.4468;AF_eas=0.5507;AF_nfe=0.5078;AF_fin=0.3622;AF_asj=0.4845;AF_oth=0.4754;non_topmed_AF_popmax=0.5487;non_neuro_AF_popmax=0.5507;non_cancer_AF_popmax=.;controls_AF_popmax=0.5375;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.780676;ALLELE_END GT 0|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 1|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 1|0 1|1 +1 116268283 rs4475752 C T 100 PASS AC=129;AF=0.567292;AN=214;NS=2504;DP=18650;EAS_AF=0.6706;AMR_AF=0.6182;AFR_AF=0.4319;EUR_AF=0.5567;SAS_AF=0.6186;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.567292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4475752;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5111;AF_popmax=0.6197;AF_male=0.5120;AF_female=0.5101;AF_raw=0.5111;AF_afr=0.4387;AF_sas=.;AF_amr=0.6143;AF_eas=0.6197;AF_nfe=0.5282;AF_fin=0.5347;AF_asj=0.5241;AF_oth=0.5353;non_topmed_AF_popmax=0.6181;non_neuro_AF_popmax=0.6197;non_cancer_AF_popmax=.;controls_AF_popmax=0.6203;Kaviar_AF=0.548025;Kaviar_AC=14264;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.605143;ALLELE_END GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116269560 rs572309653 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8225;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572309653;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.374e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.652906;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116275561 rs146664754 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18030;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon5:c.C567G:p.F189L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146664754;CLNALLELEID=172475;CLNDN=Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.78;MutationAssessor_score_rankscore=0.814;MutationAssessor_pred=M;FATHMM_score=-1.15;FATHMM_converted_rankscore=0.780;FATHMM_pred=T;PROVEAN_score=-4.85;PROVEAN_converted_rankscore=0.811;PROVEAN_pred=D;VEST3_score=0.901;VEST3_rankscore=0.900;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.470;MetaLR_rankscore=0.796;MetaLR_pred=T;M-CAP_score=0.098;M-CAP_rankscore=0.769;M-CAP_pred=D;REVEL_score=0.699;REVEL_rankscore=0.893;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.974;CADD_raw_rankscore=0.821;CADD_phred=27.7;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.581;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.390;Eigen-PC-raw=0.338;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.411;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=1.710;phyloP100way_vertebrate_rankscore=0.373;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.120;SiPhy_29way_logOdds_rankscore=0.530;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0004;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0001;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006986;Kaviar_AC=108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855039;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 116283343 rs9428083 A G 100 PASS AC=188;AF=0.64357;AN=214;NS=2504;DP=17827;EAS_AF=0.7431;AMR_AF=0.7608;AFR_AF=0.2814;EUR_AF=0.8738;SAS_AF=0.7106;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.64357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9428083;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0183;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=0.8780;ExAC_nontcga_ALL=0.7832;ExAC_nontcga_AFR=0.3592;ExAC_nontcga_AMR=0.7647;ExAC_nontcga_EAS=0.7587;ExAC_nontcga_FIN=0.8160;ExAC_nontcga_NFE=0.8695;ExAC_nontcga_OTH=0.8078;ExAC_nontcga_SAS=0.7406;AF=0.7118;AF_popmax=0.8592;AF_male=0.7100;AF_female=0.7139;AF_raw=0.7111;AF_afr=0.3682;AF_sas=.;AF_amr=0.7736;AF_eas=0.8112;AF_nfe=0.8592;AF_fin=0.8167;AF_asj=0.8345;AF_oth=0.8011;non_topmed_AF_popmax=0.8518;non_neuro_AF_popmax=0.8595;non_cancer_AF_popmax=.;controls_AF_popmax=0.8281;Kaviar_AF=0.785559;Kaviar_AC=121449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.773890;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 116283526 rs7538337 G A 100 PASS AC=188;AF=0.64357;AN=214;NS=2504;DP=19512;EAS_AF=0.7421;AMR_AF=0.7608;AFR_AF=0.2814;EUR_AF=0.8738;SAS_AF=0.7117;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.64357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7538337;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7114;AF_popmax=0.8592;AF_male=0.7098;AF_female=0.7133;AF_raw=0.7111;AF_afr=0.3683;AF_sas=.;AF_amr=0.7736;AF_eas=0.8098;AF_nfe=0.8592;AF_fin=0.8167;AF_asj=0.8345;AF_oth=0.8006;non_topmed_AF_popmax=0.8518;non_neuro_AF_popmax=0.8595;non_cancer_AF_popmax=.;controls_AF_popmax=0.8279;Kaviar_AF=0.157837;Kaviar_AC=24402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.990499;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 116310943 rs527426700 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20331;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=CASQ2:NM_001232:exon1:c.G220T:p.E74X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527426700;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.767;CADD_raw_rankscore=0.978;CADD_phred=38;DANN_score=0.997;DANN_rankscore=0.775;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.846;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.040;Eigen-PC-raw=0.863;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=7.568;phyloP100way_vertebrate_rankscore=0.814;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=19.369;SiPhy_29way_logOdds_rankscore=0.944;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.870293;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116310967 rs4074536 T C 100 PASS AC=79;AF=0.401158;AN=214;NS=2504;DP=19899;EAS_AF=0.5159;AMR_AF=0.3674;AFR_AF=0.4856;EUR_AF=0.2922;SAS_AF=0.3047;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon1:c.A196G:p.T66A;1000g2015aug_all=0.401158;GWAS=rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220;ORegAnno_REGULATORY_P=rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220;avsnp150=rs4074536;CLNALLELEID=53328;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.943;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_converted_rankscore=0.261;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_converted_rankscore=0.377;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_converted_rankscore=0.030;PROVEAN_pred=N;VEST3_score=0.001;VEST3_rankscore=0.001;MetaSVM_score=-0.939;MetaSVM_rankscore=0.428;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.022;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.622;CADD_raw_rankscore=0.014;CADD_phred=0.002;DANN_score=0.183;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.136;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.332;Eigen-PC-raw=-1.173;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.398;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.44;GERP++_RS_rankscore=0.383;phyloP100way_vertebrate=1.629;phyloP100way_vertebrate_rankscore=0.365;phyloP20way_mammalian=-0.462;phyloP20way_mammalian_rankscore=0.055;phastCons100way_vertebrate=0.308;phastCons100way_vertebrate_rankscore=0.252;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=8.620;SiPhy_29way_logOdds_rankscore=0.328;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=ENSG00000118729.10|ENSG00000118729.10;GTEx_V6p_tissue=Artery_Coronary|Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2891;ExAC_nontcga_ALL=0.3296;ExAC_nontcga_AFR=0.4581;ExAC_nontcga_AMR=0.3624;ExAC_nontcga_EAS=0.5544;ExAC_nontcga_FIN=0.2731;ExAC_nontcga_NFE=0.2848;ExAC_nontcga_OTH=0.3127;ExAC_nontcga_SAS=0.3004;AF=0.3285;AF_popmax=0.5460;AF_male=0.3342;AF_female=0.3213;AF_raw=0.3287;AF_afr=0.4435;AF_sas=.;AF_amr=0.3614;AF_eas=0.5460;AF_nfe=0.2586;AF_fin=0.2661;AF_asj=0.2483;AF_oth=0.2858;non_topmed_AF_popmax=0.5432;non_neuro_AF_popmax=0.5460;non_cancer_AF_popmax=.;controls_AF_popmax=0.5542;Kaviar_AF=0.320132;Kaviar_AC=49493;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::0.118796;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.668376;ALLELE_END GT 1|0 1|0 1|1 1|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|1 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 +1 116311198 rs4074537 T C 100 PASS AC=214;AF=0.96246;AN=214;NS=2504;DP=20174;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.8631;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CASQ2;GeneDetail.refGene=NM_001232:c.-36A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.96246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4074537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9878;ExAC_nontcga_AFR=0.8728;ExAC_nontcga_AMR=0.9931;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9991;ExAC_nontcga_OTH=0.9948;ExAC_nontcga_SAS=0.9997;AF=0.9636;AF_popmax=1;AF_male=0.9630;AF_female=0.9642;AF_raw=0.9635;AF_afr=0.8713;AF_sas=.;AF_amr=0.9917;AF_eas=1;AF_nfe=0.9993;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.955673;Kaviar_AC=147749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.930141;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 147230217 rs1692141 T C 100 PASS AC=167;AF=0.880391;AN=214;NS=2504;DP=19460;EAS_AF=0.9018;AMR_AF=0.8804;AFR_AF=0.9017;EUR_AF=0.7584;SAS_AF=0.955;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GJA5;GeneDetail.refGene=NM_181703:c.*53A>G\x3bNM_005266:c.*53A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.880391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1692141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8145;AF_popmax=0.9108;AF_male=0.8204;AF_female=0.8070;AF_raw=0.8144;AF_afr=0.8768;AF_sas=.;AF_amr=0.8629;AF_eas=0.9108;AF_nfe=0.7750;AF_fin=0.7769;AF_asj=0.8586;AF_oth=0.8065;non_topmed_AF_popmax=0.9112;non_neuro_AF_popmax=0.9108;non_cancer_AF_popmax=.;controls_AF_popmax=0.9136;Kaviar_AF=0.163019;Kaviar_AC=25203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 0|1 +1 147230978 rs2232191 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=19618;EAS_AF=0.0556;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA5:NM_005266:exon2:c.C369T:p.Y123Y,GJA5:NM_181703:exon2:c.C369T:p.Y123Y;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2232191;CLNALLELEID=276314;CLNDN=Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation|Atrial_standstill_1;CLNDISDB=MedGen:C3279693,OMIM:614049|MedGen:C3468561,Orphanet:ORPHA334|MedGen:C4551959,OMIM:108770;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0.0484;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0084;AF=0.0056;AF_popmax=0.0501;AF_male=0.0062;AF_female=0.0048;AF_raw=0.0056;AF_afr=0.0002;AF_sas=.;AF_amr=0.0071;AF_eas=0.0501;AF_nfe=0.0050;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0513;non_neuro_AF_popmax=0.0501;non_cancer_AF_popmax=.;controls_AF_popmax=0.0449;Kaviar_AF=0.0088162;Kaviar_AC=1363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.569602;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 +1 156084760 rs11549668 C T 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=12738;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001282626:exon1:c.C51T:p.S17S,LMNA:NM_005572:exon1:c.C51T:p.S17S,LMNA:NM_170707:exon1:c.C51T:p.S17S,LMNA:NM_170708:exon1:c.C51T:p.S17S,LMNA:NM_001282625:exon4:c.C51T:p.S17S;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11549668;CLNALLELEID=45141;CLNDN=Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0243;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0377;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0405;ExAC_nontcga_OTH=0.035;ExAC_nontcga_SAS=0.0060;AF=0.0080;AF_popmax=0.0212;AF_male=0.0082;AF_female=0.0076;AF_raw=0.0080;AF_afr=0.0026;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0043;AF_asj=0.0241;AF_oth=0.0092;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0088873;Kaviar_AC=1374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000014148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1888508|N/A|STAT1|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR,OREG1259368|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.741400;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104292 rs12117552 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104375 rs11264442 G T 100 PASS AC=3;AF=0.077476;AN=214;NS=2504;DP=18485;EAS_AF=0.0228;AMR_AF=0.0274;AFR_AF=0.1861;EUR_AF=0.0229;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.077476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11264442;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0672;AF_popmax=0.1787;AF_male=0.0672;AF_female=0.0671;AF_raw=0.0675;AF_afr=0.1787;AF_sas=.;AF_amr=0.0248;AF_eas=0.0186;AF_nfe=0.0226;AF_fin=0.0340;AF_asj=0.0172;AF_oth=0.0285;non_topmed_AF_popmax=0.1790;non_neuro_AF_popmax=0.1788;non_cancer_AF_popmax=.;controls_AF_popmax=0.1792;Kaviar_AF=0.007335;Kaviar_AC=1134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.702863;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104392 rs11264443 C T 100 PASS AC=3;AF=0.0750799;AN=214;NS=2504;DP=18226;EAS_AF=0.0228;AMR_AF=0.0216;AFR_AF=0.1808;EUR_AF=0.0219;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11264443;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0664;AF_popmax=0.1758;AF_male=0.0665;AF_female=0.0662;AF_raw=0.0665;AF_afr=0.1758;AF_sas=.;AF_amr=0.0248;AF_eas=0.0186;AF_nfe=0.0227;AF_fin=0.0340;AF_asj=0.0172;AF_oth=0.0285;non_topmed_AF_popmax=0.1760;non_neuro_AF_popmax=0.1762;non_cancer_AF_popmax=.;controls_AF_popmax=0.1770;Kaviar_AF=0.007018;Kaviar_AC=1085;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.072802;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104659 rs201227908 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20044;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon4:c.C367T:p.R123C,LMNA:NM_001282626:exon4:c.C703T:p.R235C,LMNA:NM_005572:exon4:c.C703T:p.R235C,LMNA:NM_170707:exon4:c.C703T:p.R235C,LMNA:NM_170708:exon4:c.C703T:p.R235C,LMNA:NM_001282624:exon5:c.C460T:p.R154C,LMNA:NM_001282625:exon7:c.C703T:p.R235C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201227908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.091;SIFT_converted_rankscore=0.457;SIFT_pred=T;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.647;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.66;MutationAssessor_score_rankscore=0.426;MutationAssessor_pred=L;FATHMM_score=-2.41;FATHMM_converted_rankscore=0.885;FATHMM_pred=D;PROVEAN_score=-3.37;PROVEAN_converted_rankscore=0.666;PROVEAN_pred=D;VEST3_score=0.722;VEST3_rankscore=0.788;MetaSVM_score=0.420;MetaSVM_rankscore=0.894;MetaSVM_pred=D;MetaLR_score=0.678;MetaLR_rankscore=0.889;MetaLR_pred=D;M-CAP_score=0.251;M-CAP_rankscore=0.891;M-CAP_pred=D;REVEL_score=0.688;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.678;CADD_raw_rankscore=0.627;CADD_phred=24.6;DANN_score=0.997;DANN_rankscore=0.820;fathmm-MKL_coding_score=0.920;fathmm-MKL_coding_rankscore=0.544;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.381;Eigen-PC-raw=0.454;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=3.945;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.808;SiPhy_29way_logOdds_rankscore=0.513;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004687|hsa-miR-371a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613897;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156105028 rs538089 T C 100 PASS AC=32;AF=0.193091;AN=214;NS=2504;DP=16210;EAS_AF=0.0228;AMR_AF=0.085;AFR_AF=0.5242;EUR_AF=0.0865;SAS_AF=0.1074;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon5:c.T525C:p.A175A,LMNA:NM_001282626:exon5:c.T861C:p.A287A,LMNA:NM_005572:exon5:c.T861C:p.A287A,LMNA:NM_170707:exon5:c.T861C:p.A287A,LMNA:NM_170708:exon5:c.T861C:p.A287A,LMNA:NM_001282624:exon6:c.T618C:p.A206A,LMNA:NM_001282625:exon8:c.T861C:p.A287A;1000g2015aug_all=0.193091;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538089;CLNALLELEID=57252;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1084;ExAC_nontcga_AFR=0.4541;ExAC_nontcga_AMR=0.0612;ExAC_nontcga_EAS=0.0186;ExAC_nontcga_FIN=0.0560;ExAC_nontcga_NFE=0.0717;ExAC_nontcga_OTH=0.0928;ExAC_nontcga_SAS=0.1360;AF=0.1720;AF_popmax=0.4445;AF_male=0.1740;AF_female=0.1695;AF_raw=0.1721;AF_afr=0.4445;AF_sas=.;AF_amr=0.0708;AF_eas=0.0206;AF_nfe=0.0701;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0809;non_topmed_AF_popmax=0.4454;non_neuro_AF_popmax=0.4432;non_cancer_AF_popmax=.;controls_AF_popmax=0.4451;Kaviar_AF=0.106389;Kaviar_AC=16448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000071|hsa-miR-17-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.584850;ALLELE_END GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156105928 rs534807 G A 100 PASS AC=31;AF=0.192292;AN=214;NS=2504;DP=16125;EAS_AF=0.0218;AMR_AF=0.0836;AFR_AF=0.5242;EUR_AF=0.0855;SAS_AF=0.1063;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534807;CLNALLELEID=45136;CLNDN=Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0748;ExAC_nontcga_ALL=0.1067;ExAC_nontcga_AFR=0.4558;ExAC_nontcga_AMR=0.0605;ExAC_nontcga_EAS=0.0189;ExAC_nontcga_FIN=0.0542;ExAC_nontcga_NFE=0.0708;ExAC_nontcga_OTH=0.0909;ExAC_nontcga_SAS=0.1303;AF=0.1712;AF_popmax=0.4448;AF_male=0.1731;AF_female=0.1688;AF_raw=0.1716;AF_afr=0.4448;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0692;AF_fin=0.0680;AF_asj=0.0966;AF_oth=0.0763;non_topmed_AF_popmax=0.4459;non_neuro_AF_popmax=0.4418;non_cancer_AF_popmax=.;controls_AF_popmax=0.4451;Kaviar_AF=0.10364;Kaviar_AC=16023;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.059805;ALLELE_END GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156105961 rs141879453 C T 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=16744;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141879453;CLNALLELEID=77683;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided;CLNDISDB=MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0502;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0015;AF=0.0136;AF_popmax=0.0133;AF_male=0.0131;AF_female=0.0142;AF_raw=0.0137;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0544;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0247;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.499001;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141879453;CLNALLELEID=77683;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided;CLNDISDB=MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0502;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0015;AF=0.0136;AF_popmax=0.0133;AF_male=0.0131;AF_female=0.0142;AF_raw=0.0137;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0544;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0247;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.499001;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156106185 rs505058 T C 100 PASS AC=31;AF=0.249201;AN=214;NS=2504;DP=20622;EAS_AF=0.0228;AMR_AF=0.098;AFR_AF=0.7247;EUR_AF=0.0865;SAS_AF=0.1145;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T1002C:p.D334D,LMNA:NM_001282626:exon7:c.T1338C:p.D446D,LMNA:NM_005572:exon7:c.T1338C:p.D446D,LMNA:NM_170707:exon7:c.T1338C:p.D446D,LMNA:NM_170708:exon7:c.T1338C:p.D446D,LMNA:NM_001282624:exon8:c.T1095C:p.D365D,LMNA:NM_001282625:exon10:c.T1338C:p.D446D;1000g2015aug_all=0.249201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505058;CLNALLELEID=57201;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0760;ExAC_nontcga_ALL=0.1629;ExAC_nontcga_AFR=0.6521;ExAC_nontcga_AMR=0.1003;ExAC_nontcga_EAS=0.0292;ExAC_nontcga_FIN=0.0810;ExAC_nontcga_NFE=0.0977;ExAC_nontcga_OTH=0.1322;ExAC_nontcga_SAS=0.1610;AF=0.2239;AF_popmax=0.6287;AF_male=0.2279;AF_female=0.2190;AF_raw=0.2239;AF_afr=0.6287;AF_sas=.;AF_amr=0.0873;AF_eas=0.0200;AF_nfe=0.0703;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0902;non_topmed_AF_popmax=0.6298;non_neuro_AF_popmax=0.6383;non_cancer_AF_popmax=.;controls_AF_popmax=0.6348;Kaviar_AF=0.120911;Kaviar_AC=18693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702397;ALLELE_END GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156106863 rs553016 C T 100 PASS AC=31;AF=0.182308;AN=214;NS=2504;DP=16644;EAS_AF=0.0228;AMR_AF=0.0793;AFR_AF=0.4879;EUR_AF=0.0855;SAS_AF=0.1063;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553016;CLNALLELEID=77731;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1057;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.0594;ExAC_nontcga_EAS=0.0192;ExAC_nontcga_FIN=0.0589;ExAC_nontcga_NFE=0.0713;ExAC_nontcga_OTH=0.0964;ExAC_nontcga_SAS=0.1354;AF=0.1637;AF_popmax=0.4158;AF_male=0.1640;AF_female=0.1633;AF_raw=0.1640;AF_afr=0.4158;AF_sas=.;AF_amr=0.0708;AF_eas=0.0200;AF_nfe=0.0697;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0790;non_topmed_AF_popmax=0.4170;non_neuro_AF_popmax=0.4172;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.102677;Kaviar_AC=15874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.631424;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553016;CLNALLELEID=77731;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1057;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.0594;ExAC_nontcga_EAS=0.0192;ExAC_nontcga_FIN=0.0589;ExAC_nontcga_NFE=0.0713;ExAC_nontcga_OTH=0.0964;ExAC_nontcga_SAS=0.1354;AF=0.1637;AF_popmax=0.4158;AF_male=0.1640;AF_female=0.1633;AF_raw=0.1640;AF_afr=0.4158;AF_sas=.;AF_amr=0.0708;AF_eas=0.0200;AF_nfe=0.0697;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0790;non_topmed_AF_popmax=0.4170;non_neuro_AF_popmax=0.4172;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.102677;Kaviar_AC=15874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.631424;ALLELE_END GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156107470 rs142191737 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18934;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.G1298A:p.R433H,LMNA:NM_001282626:exon10:c.G1634A:p.R545H,LMNA:NM_005572:exon10:c.G1634A:p.R545H,LMNA:NM_170707:exon10:c.G1634A:p.R545H,LMNA:NM_001282624:exon11:c.G1391A:p.R464H,LMNA:NM_001282625:exon13:c.G1634A:p.R545H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142191737;CLNALLELEID=172489;CLNDN=Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.907;Polyphen2_HVAR_rankscore=0.627;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.907;VEST3_rankscore=0.899;MetaSVM_score=1.044;MetaSVM_rankscore=0.980;MetaSVM_pred=D;MetaLR_score=0.932;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.650;M-CAP_rankscore=0.971;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.275;CADD_raw_rankscore=0.573;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.629;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.094;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.950;phastCons20way_mammalian_rankscore=0.426;SiPhy_29way_logOdds=17.100;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670614;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.G1298A:p.R433H,LMNA:NM_001282626:exon10:c.G1634A:p.R545H,LMNA:NM_005572:exon10:c.G1634A:p.R545H,LMNA:NM_170707:exon10:c.G1634A:p.R545H,LMNA:NM_001282624:exon11:c.G1391A:p.R464H,LMNA:NM_001282625:exon13:c.G1634A:p.R545H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142191737;CLNALLELEID=172489;CLNDN=Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.907;Polyphen2_HVAR_rankscore=0.627;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.907;VEST3_rankscore=0.899;MetaSVM_score=1.044;MetaSVM_rankscore=0.980;MetaSVM_pred=D;MetaLR_score=0.932;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.650;M-CAP_rankscore=0.971;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.275;CADD_raw_rankscore=0.573;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.629;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.094;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.950;phastCons20way_mammalian_rankscore=0.426;SiPhy_29way_logOdds=17.100;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670614;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156107534 rs4641 C T 100 PASS AC=45;AF=0.220248;AN=214;NS=2504;DP=13360;EAS_AF=0.2738;AMR_AF=0.3012;AFR_AF=0.0658;EUR_AF=0.2247;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;1000g2015aug_all=0.220248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4641;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2531;ExAC_nontcga_ALL=0.2689;ExAC_nontcga_AFR=0.1021;ExAC_nontcga_AMR=0.3231;ExAC_nontcga_EAS=0.3226;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.3438;ExAC_nontcga_SAS=0.2942;AF=0.1962;AF_popmax=0.2842;AF_male=0.2001;AF_female=0.1912;AF_raw=0.1963;AF_afr=0.0922;AF_sas=.;AF_amr=0.2842;AF_eas=0.2429;AF_nfe=0.2487;AF_fin=0.1711;AF_asj=0.2153;AF_oth=0.2243;non_topmed_AF_popmax=0.2852;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674683;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;1000g2015aug_all=0.220248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4641;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2531;ExAC_nontcga_ALL=0.2689;ExAC_nontcga_AFR=0.1021;ExAC_nontcga_AMR=0.3231;ExAC_nontcga_EAS=0.3226;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.3438;ExAC_nontcga_SAS=0.2942;AF=0.1962;AF_popmax=0.2842;AF_male=0.2001;AF_female=0.1912;AF_raw=0.1963;AF_afr=0.0922;AF_sas=.;AF_amr=0.2842;AF_eas=0.2429;AF_nfe=0.2487;AF_fin=0.1711;AF_asj=0.2153;AF_oth=0.2243;non_topmed_AF_popmax=0.2852;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674683;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +1 156108325 rs57830985 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14777;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_170708:exon10:c.G1655A:p.R552H,LMNA:NM_001257374:exon11:c.G1409A:p.R470H,LMNA:NM_001282626:exon11:c.G1745A:p.R582H,LMNA:NM_170707:exon11:c.G1745A:p.R582H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57830985;CLNALLELEID=29533;CLNDN=Familial_partial_lipodystrophy_2|not_provided;CLNDISDB=MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;SIFT_score=0.011;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=A;MutationAssessor_score=2.085;MutationAssessor_score_rankscore=0.579;MutationAssessor_pred=M;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.948;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.401;PROVEAN_pred=N;VEST3_score=0.798;VEST3_rankscore=0.914;MetaSVM_score=0.835;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.813;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=0.251;M-CAP_rankscore=0.892;M-CAP_pred=D;REVEL_score=0.728;REVEL_rankscore=0.906;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.313;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.809;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.693;Eigen-PC-raw=0.714;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=9.234;phyloP100way_vertebrate_rankscore=0.944;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.897;SiPhy_29way_logOdds_rankscore=0.790;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1498572|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.626187;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 156108610 rs572131902 G T 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=15442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572131902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0011;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1498572|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.866814;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156108976 rs7339 G C 100 PASS AC=32;AF=0.185304;AN=214;NS=2504;DP=16326;EAS_AF=0.0228;AMR_AF=0.0807;AFR_AF=0.4977;EUR_AF=0.0865;SAS_AF=0.1063;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*79G>C\x3bNM_001282626:c.*79G>C\x3bNM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185304;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7339;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0773;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1661;AF_popmax=0.4241;AF_male=0.1673;AF_female=0.1646;AF_raw=0.1661;AF_afr=0.4241;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0696;AF_fin=0.0695;AF_asj=0.1;AF_oth=0.0779;non_topmed_AF_popmax=0.4254;non_neuro_AF_popmax=0.4231;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.120371;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*79G>C\x3bNM_001282626:c.*79G>C\x3bNM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185304;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7339;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0773;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1661;AF_popmax=0.4241;AF_male=0.1673;AF_female=0.1646;AF_raw=0.1661;AF_afr=0.4241;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0696;AF_fin=0.0695;AF_asj=0.1;AF_oth=0.0779;non_topmed_AF_popmax=0.4254;non_neuro_AF_popmax=0.4231;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.120371;ALLELE_END GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156109536 rs185169879 G A 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=9843;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*639G>A\x3bNM_001282626:c.*639G>A\x3bNM_170708:c.*639G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185169879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0111;ExAC_nontcga_EAS=0.0076;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0047;AF=0.0068;AF_popmax=0.0109;AF_male=0.0064;AF_female=0.0073;AF_raw=0.0068;AF_afr=0.0020;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0024126;Kaviar_AC=373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.321233;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162257246 rs7538260 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19835;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7538260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0070;ExAC_nontcga_NFE=0.0177;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0038;AF=0.0084;AF_popmax=0.0131;AF_male=0.0089;AF_female=0.0077;AF_raw=0.0084;AF_afr=0.0020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0049;AF_asj=0.0310;AF_oth=0.0074;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0117916;Kaviar_AC=1823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162270589 rs538660044 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18017;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538660044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000375341|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538660044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000375341|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162302846 rs41271969 C T 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=22480;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon5:c.C369T:p.I123I,NOS1AP:NM_014697:exon5:c.C384T:p.I128I;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41271969;CLNALLELEID=486842;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0018;AF=0.0045;AF_popmax=0.0049;AF_male=0.0039;AF_female=0.0052;AF_raw=0.0045;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0049;AF_fin=0.0155;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0033764;Kaviar_AC=522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.165457;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162313597 rs347278 T C 100 PASS AC=208;AF=0.925919;AN=214;NS=2504;DP=20198;EAS_AF=1;AMR_AF=0.9683;AFR_AF=0.761;EUR_AF=0.9781;SAS_AF=0.9888;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.925919;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs347278;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9816;ExAC_nontcga_ALL=0.9656;ExAC_nontcga_AFR=0.7903;ExAC_nontcga_AMR=0.9820;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9852;ExAC_nontcga_NFE=0.9796;ExAC_nontcga_OTH=0.9813;ExAC_nontcga_SAS=0.9800;AF=0.9297;AF_popmax=0.9994;AF_male=0.9274;AF_female=0.9326;AF_raw=0.9296;AF_afr=0.7898;AF_sas=.;AF_amr=0.9835;AF_eas=0.9994;AF_nfe=0.9815;AF_fin=0.9885;AF_asj=0.9759;AF_oth=0.9715;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=0.9989;Kaviar_AF=0.947808;Kaviar_AC=146533;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 162313735 rs3751284 C T 100 PASS AC=74;AF=0.430911;AN=214;NS=2504;DP=16087;EAS_AF=0.6339;AMR_AF=0.451;AFR_AF=0.2829;EUR_AF=0.3549;SAS_AF=0.4857;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;1000g2015aug_all=0.430911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3751284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3571;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.2881;ExAC_nontcga_AMR=0.4947;ExAC_nontcga_EAS=0.6074;ExAC_nontcga_FIN=0.4665;ExAC_nontcga_NFE=0.3669;ExAC_nontcga_OTH=0.4337;ExAC_nontcga_SAS=0.4647;AF=0.3727;AF_popmax=0.6073;AF_male=0.3758;AF_female=0.3689;AF_raw=0.3731;AF_afr=0.2983;AF_sas=.;AF_amr=0.4444;AF_eas=0.6073;AF_nfe=0.3649;AF_fin=0.4631;AF_asj=0.375;AF_oth=0.3967;non_topmed_AF_popmax=0.6067;non_neuro_AF_popmax=0.6073;non_cancer_AF_popmax=.;controls_AF_popmax=0.6193;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.807592;ALLELE_END GT 1|0 0|0 1|0 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 1|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 +1 162324934 rs145938445 G T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21520;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145938445;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0026;AF=3.187e-05;AF_popmax=6.487e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162325172 rs139991954 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22584;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139991954;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162326755 rs200338123 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17764;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.G753A:p.S251S,NOS1AP:NM_014697:exon8:c.G768A:p.S256S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200338123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.534e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.363e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.457502;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162326851 rs77473623 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15778;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.C849T:p.S283S,NOS1AP:NM_014697:exon8:c.C864T:p.S288S;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77473623;CLNALLELEID=45323;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0020;AF=0.0050;AF_popmax=0.0082;AF_male=0.0045;AF_female=0.0056;AF_raw=0.0050;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0037;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0081;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0059378;Kaviar_AC=918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.477502;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162335256 rs348624 C T 100 PASS AC=37;AF=0.250799;AN=214;NS=2504;DP=18697;EAS_AF=0.123;AMR_AF=0.2161;AFR_AF=0.4342;EUR_AF=0.1193;SAS_AF=0.2945;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs348624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1199;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.2083;ExAC_nontcga_EAS=0.1281;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.1186;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.2620;AF=0.1969;AF_popmax=0.4073;AF_male=0.1998;AF_female=0.1931;AF_raw=0.1971;AF_afr=0.4073;AF_sas=.;AF_amr=0.2026;AF_eas=0.1388;AF_nfe=0.1074;AF_fin=0.1160;AF_asj=0.1172;AF_oth=0.1406;non_topmed_AF_popmax=0.4078;non_neuro_AF_popmax=0.4069;non_cancer_AF_popmax=.;controls_AF_popmax=0.4132;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.930348;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs348624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1199;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.2083;ExAC_nontcga_EAS=0.1281;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.1186;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.2620;AF=0.1969;AF_popmax=0.4073;AF_male=0.1998;AF_female=0.1931;AF_raw=0.1971;AF_afr=0.4073;AF_sas=.;AF_amr=0.2026;AF_eas=0.1388;AF_nfe=0.1074;AF_fin=0.1160;AF_asj=0.1172;AF_oth=0.1406;non_topmed_AF_popmax=0.4078;non_neuro_AF_popmax=0.4069;non_cancer_AF_popmax=.;controls_AF_popmax=0.4132;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.930348;ALLELE_END GT 1|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 +1 162335289 rs142457157 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19263;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.G150A:p.M50I,NOS1AP:NM_001164757:exon9:c.G1020A:p.M340I,NOS1AP:NM_014697:exon9:c.G1035A:p.M345I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142457157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.395;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.29;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.324;MetaSVM_score=-0.771;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.180;MetaLR_rankscore=0.527;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.444;M-CAP_pred=T;REVEL_score=0.158;REVEL_rankscore=0.416;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.967;CADD_raw_rankscore=0.534;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.110;Eigen-PC-raw=0.078;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=3.600;phyloP100way_vertebrate_rankscore=0.536;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.253;SiPhy_29way_logOdds_rankscore=0.731;Interpro_domain=PH_domain-like|PTB/PI_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.122376;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.G150A:p.M50I,NOS1AP:NM_001164757:exon9:c.G1020A:p.M340I,NOS1AP:NM_014697:exon9:c.G1035A:p.M345I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142457157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.395;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.29;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.324;MetaSVM_score=-0.771;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.180;MetaLR_rankscore=0.527;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.444;M-CAP_pred=T;REVEL_score=0.158;REVEL_rankscore=0.416;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.967;CADD_raw_rankscore=0.534;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.110;Eigen-PC-raw=0.078;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=3.600;phyloP100way_vertebrate_rankscore=0.536;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.253;SiPhy_29way_logOdds_rankscore=0.731;Interpro_domain=PH_domain-like|PTB/PI_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.122376;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162335424 rs1964052 T C 100 PASS AC=176;AF=0.719249;AN=214;NS=2504;DP=20207;EAS_AF=0.873;AMR_AF=0.7795;AFR_AF=0.4834;EUR_AF=0.8797;SAS_AF=0.6718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1964052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7794;AF_popmax=0.8913;AF_male=0.7742;AF_female=0.7859;AF_raw=0.7790;AF_afr=0.5105;AF_sas=.;AF_amr=0.7983;AF_eas=0.8573;AF_nfe=0.8913;AF_fin=0.8837;AF_asj=0.8724;AF_oth=0.8527;non_topmed_AF_popmax=0.8967;non_neuro_AF_popmax=0.8921;non_cancer_AF_popmax=.;controls_AF_popmax=0.9100;Kaviar_AF=0.162191;Kaviar_AC=25075;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1964052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7794;AF_popmax=0.8913;AF_male=0.7742;AF_female=0.7859;AF_raw=0.7790;AF_afr=0.5105;AF_sas=.;AF_amr=0.7983;AF_eas=0.8573;AF_nfe=0.8913;AF_fin=0.8837;AF_asj=0.8724;AF_oth=0.8527;non_topmed_AF_popmax=0.8967;non_neuro_AF_popmax=0.8921;non_cancer_AF_popmax=.;controls_AF_popmax=0.9100;Kaviar_AF=0.162191;Kaviar_AC=25075;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 +1 201328267 rs3730244 G A 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=15980;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*71C>T\x3bNM_000364:c.*71C>T\x3bNM_001276346:c.*71C>T\x3bNM_001276347:c.*71C>T\x3bNM_001001432:c.*71C>T\x3bNM_001001431:c.*71C>T\x3bNM_001001430:c.*71C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0270;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0282;AF_male=0.0186;AF_female=0.0178;AF_raw=0.0182;AF_afr=0.0048;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0199;AF_asj=0.0172;AF_oth=0.0147;non_topmed_AF_popmax=0.0280;non_neuro_AF_popmax=0.0283;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0031371;Kaviar_AC=485;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.232803;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328272 rs3729998 C T 100 PASS AC=7;AF=0.00738818;AN=214;NS=2504;DP=16295;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*66G>A\x3bNM_000364:c.*66G>A\x3bNM_001276346:c.*66G>A\x3bNM_001276347:c.*66G>A\x3bNM_001001432:c.*66G>A\x3bNM_001001431:c.*66G>A\x3bNM_001001430:c.*66G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729998;CLNALLELEID=278453;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0330;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0171;AF_popmax=0.0244;AF_male=0.0164;AF_female=0.0180;AF_raw=0.0171;AF_afr=0.0062;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0244;AF_fin=0.0213;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0219;non_neuro_AF_popmax=0.0245;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.895900;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328301 rs149240770 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16897;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*37C>T\x3bNM_000364:c.*37C>T\x3bNM_001276346:c.*37C>T\x3bNM_001276347:c.*37C>T\x3bNM_001001432:c.*37C>T\x3bNM_001001431:c.*37C>T\x3bNM_001001430:c.*37C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149240770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0027;ExAC_nontcga_SAS=0.0083;AF=0.0003;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0012031;Kaviar_AC=186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.543918;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328329 rs370503996 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17075;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*9C>T\x3bNM_000364:c.*9C>T\x3bNM_001276346:c.*9C>T\x3bNM_001276347:c.*9C>T\x3bNM_001001432:c.*9C>T\x3bNM_001001431:c.*9C>T\x3bNM_001001430:c.*9C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370503996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.136e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.033e-05;ExAC_nontcga_OTH=0.0025;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328348 rs141121678 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16984;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon14:c.G839T:p.R280L,TNNT2:NM_001001431:exon15:c.G848T:p.R283L,TNNT2:NM_001276346:exon15:c.G758T:p.R253L,TNNT2:NM_000364:exon16:c.G878T:p.R293L,TNNT2:NM_001001430:exon16:c.G857T:p.R286L,TNNT2:NM_001276347:exon16:c.G857T:p.R286L,TNNT2:NM_001276345:exon17:c.G887T:p.R296L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141121678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.79;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.365;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=2.63;MutationAssessor_score_rankscore=0.772;MutationAssessor_pred=M;FATHMM_score=2.48;FATHMM_converted_rankscore=0.840;FATHMM_pred=T;PROVEAN_score=-3.83;PROVEAN_converted_rankscore=0.912;PROVEAN_pred=D;VEST3_score=0.64;VEST3_rankscore=0.656;MetaSVM_score=-1.057;MetaSVM_rankscore=0.125;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.321;M-CAP_rankscore=0.915;M-CAP_pred=D;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=8.083;CADD_raw_rankscore=0.957;CADD_phred=35;DANN_score=0.998;DANN_rankscore=0.919;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.683;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.547;Eigen-PC-raw=0.495;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=3.98;GERP++_RS_rankscore=0.452;phyloP100way_vertebrate=1.787;phyloP100way_vertebrate_rankscore=0.381;phyloP20way_mammalian=0.888;phyloP20way_mammalian_rankscore=0.391;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.363;SiPhy_29way_logOdds_rankscore=0.599;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.293e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.359e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000935437|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.903008;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328705 rs45576635 G A 100 PASS AC=10;AF=0.0113818;AN=214;NS=2504;DP=17373;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0298;SAS_AF=0.0133;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0113818;GWAS=rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341;ORegAnno_REGULATORY_P=rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341;avsnp150=rs45576635;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0.0202;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0384;ExAC_nontcga_OTH=0.0154;ExAC_nontcga_SAS=0.0251;AF=0.0173;AF_popmax=0.0263;AF_male=0.0164;AF_female=0.0184;AF_raw=0.0173;AF_afr=0.0052;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0263;AF_fin=0.0101;AF_asj=0.0414;AF_oth=0.0239;non_topmed_AF_popmax=0.0255;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0193788;Kaviar_AC=2996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.534858;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +1 201328824 rs2275863 G A 100 PASS AC=23;AF=0.277157;AN=214;NS=2504;DP=19367;EAS_AF=0.2847;AMR_AF=0.1023;AFR_AF=0.5439;EUR_AF=0.0944;SAS_AF=0.2209;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275863;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1020;ExAC_nontcga_ALL=0.2179;ExAC_nontcga_AFR=0.5102;ExAC_nontcga_AMR=0.1354;ExAC_nontcga_EAS=0.3248;ExAC_nontcga_FIN=0.2040;ExAC_nontcga_NFE=0.1404;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.2180;AF=0.2156;AF_popmax=0.4699;AF_male=0.2226;AF_female=0.2067;AF_raw=0.2161;AF_afr=0.4699;AF_sas=.;AF_amr=0.1149;AF_eas=0.2712;AF_nfe=0.0993;AF_fin=0.1278;AF_asj=0.1345;AF_oth=0.1360;non_topmed_AF_popmax=0.4706;non_neuro_AF_popmax=0.4783;non_cancer_AF_popmax=.;controls_AF_popmax=0.4821;Kaviar_AF=0.132896;Kaviar_AC=20546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.174482;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +1 201328913 rs45509695 G C 100 PASS AC=23;AF=0.277955;AN=214;NS=2504;DP=16443;EAS_AF=0.2857;AMR_AF=0.1023;AFR_AF=0.5461;EUR_AF=0.0944;SAS_AF=0.2209;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45509695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2155;AF_popmax=0.4704;AF_male=0.2223;AF_female=0.2069;AF_raw=0.2160;AF_afr=0.4704;AF_sas=.;AF_amr=0.1147;AF_eas=0.2716;AF_nfe=0.0988;AF_fin=0.1276;AF_asj=0.1345;AF_oth=0.1359;non_topmed_AF_popmax=0.4713;non_neuro_AF_popmax=0.4786;non_cancer_AF_popmax=.;controls_AF_popmax=0.4824;Kaviar_AF=0.152144;Kaviar_AC=3960;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +1 201330429 rs3730238 T C 100 PASS AC=5;AF=0.0974441;AN=214;NS=2504;DP=17663;EAS_AF=0.0466;AMR_AF=0.0231;AFR_AF=0.174;EUR_AF=0.0219;SAS_AF=0.1769;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R;1000g2015aug_all=0.0974441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730238;CLNALLELEID=52838;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.123;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_rankscore=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_rankscore=0.305;Polyphen2_HVAR_pred=B;LRT_score=0.087;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=0.053;MutationTaster_converted_rankscore=0.375;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_converted_rankscore=0.969;FATHMM_pred=D;PROVEAN_score=-1.52;PROVEAN_converted_rankscore=0.558;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.432;MetaSVM_score=-0.972;MetaSVM_rankscore=0.369;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.326;REVEL_rankscore=0.652;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.213;CADD_raw_rankscore=0.327;CADD_phred=17.60;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.271;Eigen-PC-raw=-0.139;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.350;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.57;GERP++_RS_rankscore=0.298;phyloP100way_vertebrate=4.039;phyloP100way_vertebrate_rankscore=0.568;phyloP20way_mammalian=1.058;phyloP20way_mammalian_rankscore=0.762;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.509;SiPhy_29way_logOdds_rankscore=0.160;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=0.0537;ExAC_nontcga_AFR=0.1541;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0453;ExAC_nontcga_FIN=0.0517;ExAC_nontcga_NFE=0.0168;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.1462;AF=0.0602;AF_popmax=0.1481;AF_male=0.0598;AF_female=0.0607;AF_raw=0.0604;AF_afr=0.1481;AF_sas=.;AF_amr=0.0224;AF_eas=0.0404;AF_nfe=0.0179;AF_fin=0.0552;AF_asj=0.0241;AF_oth=0.0414;non_topmed_AF_popmax=0.1492;non_neuro_AF_popmax=0.1560;non_cancer_AF_popmax=.;controls_AF_popmax=0.1630;Kaviar_AF=0.047024;Kaviar_AC=7270;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885874;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201330583 rs2275861 A G 100 PASS AC=12;AF=0.170927;AN=214;NS=2504;DP=14833;EAS_AF=0.2976;AMR_AF=0.0879;AFR_AF=0.2557;EUR_AF=0.0855;SAS_AF=0.0726;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1519;AF_popmax=0.2935;AF_male=0.1579;AF_female=0.1444;AF_raw=0.1520;AF_afr=0.2510;AF_sas=.;AF_amr=0.1265;AF_eas=0.2935;AF_nfe=0.1028;AF_fin=0.0819;AF_asj=0.0621;AF_oth=0.1194;non_topmed_AF_popmax=0.2917;non_neuro_AF_popmax=0.2935;non_cancer_AF_popmax=.;controls_AF_popmax=0.2912;Kaviar_AF=0.003112;Kaviar_AC=81;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.196602;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331240 rs11810834 C T 100 PASS AC=1;AF=0.0341454;AN=214;NS=2504;DP=13219;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.1278;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001430:exon12:c.G574A:p.A192T,TNNT2:NM_001276347:exon12:c.G574A:p.A192T,TNNT2:NM_001276345:exon13:c.G604A:p.A202T;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11810834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.1343;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0.0001;AF=0.0300;AF_popmax=0.1062;AF_male=0.0331;AF_female=0.0260;AF_raw=0.0301;AF_afr=0.1062;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.1030;non_cancer_AF_popmax=.;controls_AF_popmax=0.1009;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.348823;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331335 rs11807637 A G 100 PASS AC=12;AF=0.165535;AN=214;NS=2504;DP=16200;EAS_AF=0.2986;AMR_AF=0.0879;AFR_AF=0.2352;EUR_AF=0.0855;SAS_AF=0.0716;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.165535;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11807637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1018;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1479;AF_popmax=0.2937;AF_male=0.1536;AF_female=0.1408;AF_raw=0.1479;AF_afr=0.2365;AF_sas=.;AF_amr=0.1253;AF_eas=0.2937;AF_nfe=0.1032;AF_fin=0.0817;AF_asj=0.0621;AF_oth=0.1188;non_topmed_AF_popmax=0.2925;non_neuro_AF_popmax=0.2937;non_cancer_AF_popmax=.;controls_AF_popmax=0.2917;Kaviar_AF=0.0212546;Kaviar_AC=3286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.670438;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331379 rs11806184 T C 100 PASS AC=12;AF=0.165335;AN=214;NS=2504;DP=16090;EAS_AF=0.2986;AMR_AF=0.0865;AFR_AF=0.2352;EUR_AF=0.0855;SAS_AF=0.0716;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.165335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11806184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1478;AF_popmax=0.2934;AF_male=0.1536;AF_female=0.1405;AF_raw=0.1478;AF_afr=0.2363;AF_sas=.;AF_amr=0.1262;AF_eas=0.2934;AF_nfe=0.1030;AF_fin=0.0818;AF_asj=0.0621;AF_oth=0.1186;non_topmed_AF_popmax=0.2922;non_neuro_AF_popmax=0.2934;non_cancer_AF_popmax=.;controls_AF_popmax=0.2901;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.911480;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201334382 rs3729547 G A 100 PASS AC=160;AF=0.695088;AN=214;NS=2504;DP=20398;EAS_AF=0.5268;AMR_AF=0.7997;AFR_AF=0.6293;EUR_AF=0.7416;SAS_AF=0.8354;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;1000g2015aug_all=0.695088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729547;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7184;ExAC_nontcga_ALL=0.7220;ExAC_nontcga_AFR=0.6223;ExAC_nontcga_AMR=0.7687;ExAC_nontcga_EAS=0.5486;ExAC_nontcga_FIN=0.7971;ExAC_nontcga_NFE=0.7150;ExAC_nontcga_OTH=0.7767;ExAC_nontcga_SAS=0.8187;AF=0.6923;AF_popmax=0.7653;AF_male=0.6877;AF_female=0.6979;AF_raw=0.6917;AF_afr=0.6132;AF_sas=.;AF_amr=0.7653;AF_eas=0.5336;AF_nfe=0.7215;AF_fin=0.7937;AF_asj=0.7690;AF_oth=0.7325;non_topmed_AF_popmax=0.7654;non_neuro_AF_popmax=0.7473;non_cancer_AF_popmax=.;controls_AF_popmax=0.7398;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.912799;ALLELE_END GT 1|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 201334795 rs3729845 C T 100 PASS AC=23;AF=0.0824681;AN=214;NS=2504;DP=21375;EAS_AF=0.001;AMR_AF=0.0562;AFR_AF=0.1921;EUR_AF=0.0666;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon7:c.G192A:p.S64S,TNNT2:NM_001001430:exon8:c.G207A:p.S69S,TNNT2:NM_001001431:exon8:c.G207A:p.S69S,TNNT2:NM_001276347:exon8:c.G207A:p.S69S,TNNT2:NM_000364:exon9:c.G237A:p.S79S,TNNT2:NM_001276345:exon9:c.G237A:p.S79S,TNNT2:NM_001276346:exon9:c.G234A:p.S78S;1000g2015aug_all=0.0824681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729845;CLNALLELEID=52786;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0634;ExAC_nontcga_ALL=0.0641;ExAC_nontcga_AFR=0.1637;ExAC_nontcga_AMR=0.0379;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0683;ExAC_nontcga_NFE=0.0626;ExAC_nontcga_OTH=0.0585;ExAC_nontcga_SAS=0.0635;AF=0.0831;AF_popmax=0.1536;AF_male=0.0822;AF_female=0.0842;AF_raw=0.0833;AF_afr=0.1536;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.0613;AF_fin=0.0610;AF_asj=0.0621;AF_oth=0.0516;non_topmed_AF_popmax=0.1530;non_neuro_AF_popmax=0.1525;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0622954;Kaviar_AC=9631;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.887891;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +1 201335899 rs1573230 C T 100 PASS AC=214;AF=0.98143;AN=214;NS=2504;DP=20170;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9312;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.98143;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1573230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9991;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9813;AF_popmax=1;AF_male=0.9810;AF_female=0.9817;AF_raw=0.9811;AF_afr=0.9345;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=0.9897;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947287;Kaviar_AC=24656;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 201336984 rs3729843 C T 100 PASS AC=97;AF=0.285543;AN=214;NS=2504;DP=20411;EAS_AF=0.1815;AMR_AF=0.4755;AFR_AF=0.0212;EUR_AF=0.4722;SAS_AF=0.4233;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729843;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4466;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.5357;ExAC_nontcga_EAS=0.2069;ExAC_nontcga_FIN=0.4912;ExAC_nontcga_NFE=0.4556;ExAC_nontcga_OTH=0.4552;ExAC_nontcga_SAS=0.4419;AF=0.3444;AF_popmax=0.5047;AF_male=0.3377;AF_female=0.3529;AF_raw=0.3448;AF_afr=0.0777;AF_sas=.;AF_amr=0.5047;AF_eas=0.1860;AF_nfe=0.4637;AF_fin=0.4836;AF_asj=0.3724;AF_oth=0.4412;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4801;non_cancer_AF_popmax=.;controls_AF_popmax=0.5285;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.303597;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729843;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4466;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.5357;ExAC_nontcga_EAS=0.2069;ExAC_nontcga_FIN=0.4912;ExAC_nontcga_NFE=0.4556;ExAC_nontcga_OTH=0.4552;ExAC_nontcga_SAS=0.4419;AF=0.3444;AF_popmax=0.5047;AF_male=0.3377;AF_female=0.3529;AF_raw=0.3448;AF_afr=0.0777;AF_sas=.;AF_amr=0.5047;AF_eas=0.1860;AF_nfe=0.4637;AF_fin=0.4836;AF_asj=0.3724;AF_oth=0.4412;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4801;non_cancer_AF_popmax=.;controls_AF_popmax=0.5285;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.303597;ALLELE_END GT 0|0 1|1 1|1 0|0 0|1 1|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|1 0|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 1|1 1|0 0|0 1|0 1|1 +1 201337340 rs200754249 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18789;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon4:c.C68A:p.A23E,TNNT2:NM_001001430:exon5:c.C83A:p.A28E,TNNT2:NM_001001431:exon5:c.C83A:p.A28E,TNNT2:NM_001276347:exon5:c.C83A:p.A28E,TNNT2:NM_000364:exon6:c.C113A:p.A38E,TNNT2:NM_001276345:exon6:c.C113A:p.A38E,TNNT2:NM_001276346:exon6:c.C113A:p.A38E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200754249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.344;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.763;LRT_converted_rankscore=0.065;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=0.28;MutationAssessor_score_rankscore=0.100;MutationAssessor_pred=N;FATHMM_score=-6.34;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=0.31;PROVEAN_converted_rankscore=0.056;PROVEAN_pred=N;VEST3_score=0.183;VEST3_rankscore=0.472;MetaSVM_score=0.902;MetaSVM_rankscore=0.957;MetaSVM_pred=D;MetaLR_score=0.870;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.283;M-CAP_rankscore=0.903;M-CAP_pred=D;REVEL_score=0.515;REVEL_rankscore=0.795;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.485;CADD_raw_rankscore=0.056;CADD_phred=0.239;DANN_score=0.216;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.042;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.518;Eigen-PC-raw=-1.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-1.3;GERP++_RS_rankscore=0.087;phyloP100way_vertebrate=-0.080;phyloP100way_vertebrate_rankscore=0.112;phyloP20way_mammalian=-0.250;phyloP20way_mammalian_rankscore=0.090;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=3.888;SiPhy_29way_logOdds_rankscore=0.085;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.424e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438160;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201338553 rs10800776 T C 100 PASS AC=160;AF=0.734625;AN=214;NS=2504;DP=18573;EAS_AF=0.5228;AMR_AF=0.8012;AFR_AF=0.7799;EUR_AF=0.7435;SAS_AF=0.8354;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10800776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7219;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7294;AF_popmax=0.7700;AF_male=0.7274;AF_female=0.7319;AF_raw=0.7289;AF_afr=0.7430;AF_sas=.;AF_amr=0.7700;AF_eas=0.5310;AF_nfe=0.7233;AF_fin=0.7939;AF_asj=0.7690;AF_oth=0.7389;non_topmed_AF_popmax=0.7704;non_neuro_AF_popmax=0.7509;non_cancer_AF_popmax=.;controls_AF_popmax=0.7504;Kaviar_AF=0.0237821;Kaviar_AC=619;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.438366;ALLELE_END GT 1|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 201338586 rs10920183 A G 100 PASS AC=137;AF=0.519169;AN=214;NS=2504;DP=18582;EAS_AF=0.4554;AMR_AF=0.7133;AFR_AF=0.2821;EUR_AF=0.6501;SAS_AF=0.6329;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10920183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5371;AF_popmax=0.6792;AF_male=0.5307;AF_female=0.5451;AF_raw=0.5367;AF_afr=0.3080;AF_sas=.;AF_amr=0.6792;AF_eas=0.4651;AF_nfe=0.6265;AF_fin=0.6769;AF_asj=0.6379;AF_oth=0.6199;non_topmed_AF_popmax=0.6815;non_neuro_AF_popmax=0.6534;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0995653;Kaviar_AC=15393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201338896 rs10920184 T C 100 PASS AC=137;AF=0.529952;AN=214;NS=2504;DP=18402;EAS_AF=0.4653;AMR_AF=0.7176;AFR_AF=0.3132;EUR_AF=0.6511;SAS_AF=0.6319;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10920184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6210;ExAC_nontcga_ALL=0.5983;ExAC_nontcga_AFR=0.3303;ExAC_nontcga_AMR=0.7066;ExAC_nontcga_EAS=0.4876;ExAC_nontcga_FIN=0.6791;ExAC_nontcga_NFE=0.6176;ExAC_nontcga_OTH=0.6499;ExAC_nontcga_SAS=0.6268;AF=0.5449;AF_popmax=0.6915;AF_male=0.5398;AF_female=0.5513;AF_raw=0.5447;AF_afr=0.3328;AF_sas=.;AF_amr=0.6915;AF_eas=0.4743;AF_nfe=0.6267;AF_fin=0.6769;AF_asj=0.6424;AF_oth=0.6222;non_topmed_AF_popmax=0.6926;non_neuro_AF_popmax=0.6649;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.0034088;Kaviar_AC=527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.452912;ALLELE_END GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201339043 rs12049476 C T 100 PASS AC=142;AF=0.536142;AN=214;NS=2504;DP=16877;EAS_AF=0.4871;AMR_AF=0.719;AFR_AF=0.3124;EUR_AF=0.6581;SAS_AF=0.6339;AA=G|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.536142;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12049476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6332;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5503;AF_popmax=0.6903;AF_male=0.5456;AF_female=0.5562;AF_raw=0.5497;AF_afr=0.3338;AF_sas=.;AF_amr=0.6903;AF_eas=0.5;AF_nfe=0.6338;AF_fin=0.6785;AF_asj=0.6379;AF_oth=0.6268;non_topmed_AF_popmax=0.6931;non_neuro_AF_popmax=0.6594;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.115717;Kaviar_AC=17890;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.498272;ALLELE_END GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201339044 rs45584633 G A 100 PASS AC=12;AF=0.0678914;AN=214;NS=2504;DP=16724;EAS_AF=0.0794;AMR_AF=0.0706;AFR_AF=0.0545;EUR_AF=0.0855;SAS_AF=0.0542;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45584633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1009;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0856;AF_popmax=0.0995;AF_male=0.0865;AF_female=0.0844;AF_raw=0.0856;AF_afr=0.0638;AF_sas=.;AF_amr=0.0979;AF_eas=0.0904;AF_nfe=0.0995;AF_fin=0.0705;AF_asj=0.0621;AF_oth=0.1011;non_topmed_AF_popmax=0.0988;non_neuro_AF_popmax=0.1047;non_cancer_AF_popmax=.;controls_AF_popmax=0.1098;Kaviar_AF=0.0184409;Kaviar_AC=2851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.498272;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201341175 rs45533739 CAGAAG C 100 PASS AC=137;AF=0.520367;AN=214;NS=2504;DP=20900;EAS_AF=0.4663;AMR_AF=0.7133;AFR_AF=0.2791;EUR_AF=0.6491;SAS_AF=0.6329;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5933;ExAC_nontcga_AFR=0.3009;ExAC_nontcga_AMR=0.7012;ExAC_nontcga_EAS=0.4847;ExAC_nontcga_FIN=0.6783;ExAC_nontcga_NFE=0.6146;ExAC_nontcga_OTH=0.6470;ExAC_nontcga_SAS=0.6264;AF=0.5305;AF_popmax=0.6731;AF_male=0.5247;AF_female=0.5378;AF_raw=0.5322;AF_afr=0.3013;AF_sas=.;AF_amr=0.6731;AF_eas=0.4655;AF_nfe=0.6186;AF_fin=0.6762;AF_asj=0.6319;AF_oth=0.6128;non_topmed_AF_popmax=0.6767;non_neuro_AF_popmax=0.6450;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0179364;Kaviar_AC=2773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.766280;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5933;ExAC_nontcga_AFR=0.3009;ExAC_nontcga_AMR=0.7012;ExAC_nontcga_EAS=0.4847;ExAC_nontcga_FIN=0.6783;ExAC_nontcga_NFE=0.6146;ExAC_nontcga_OTH=0.6470;ExAC_nontcga_SAS=0.6264;AF=0.5305;AF_popmax=0.6731;AF_male=0.5247;AF_female=0.5378;AF_raw=0.5322;AF_afr=0.3013;AF_sas=.;AF_amr=0.6731;AF_eas=0.4655;AF_nfe=0.6186;AF_fin=0.6762;AF_asj=0.6319;AF_oth=0.6128;non_topmed_AF_popmax=0.6767;non_neuro_AF_popmax=0.6450;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0179364;Kaviar_AC=2773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.766280;ALLELE_END GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201341341 rs868407 C T 100 PASS AC=161;AF=0.771765;AN=214;NS=2504;DP=23038;EAS_AF=0.7391;AMR_AF=0.8127;AFR_AF=0.7421;EUR_AF=0.7465;SAS_AF=0.8425;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.771765;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs868407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7244;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7366;AF_popmax=0.7877;AF_male=0.7369;AF_female=0.7363;AF_raw=0.7362;AF_afr=0.7189;AF_sas=.;AF_amr=0.7877;AF_eas=0.7319;AF_nfe=0.7269;AF_fin=0.8061;AF_asj=0.7690;AF_oth=0.7518;non_topmed_AF_popmax=0.7889;non_neuro_AF_popmax=0.7617;non_cancer_AF_popmax=.;controls_AF_popmax=0.7602;Kaviar_AF=0.141499;Kaviar_AC=21876;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.472642;ALLELE_END GT 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 227069677 rs11405 T C 100 PASS AC=169;AF=0.735623;AN=214;NS=2504;DP=19714;EAS_AF=0.5427;AMR_AF=0.7176;AFR_AF=0.8313;EUR_AF=0.8022;SAS_AF=0.7495;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;1000g2015aug_all=0.735623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11405;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7801;ExAC_nontcga_ALL=0.7605;ExAC_nontcga_AFR=0.8185;ExAC_nontcga_AMR=0.7402;ExAC_nontcga_EAS=0.5615;ExAC_nontcga_FIN=0.7863;ExAC_nontcga_NFE=0.7835;ExAC_nontcga_OTH=0.7867;ExAC_nontcga_SAS=0.7502;AF=0.7699;AF_popmax=0.8181;AF_male=0.7639;AF_female=0.7774;AF_raw=0.7695;AF_afr=0.8181;AF_sas=.;AF_amr=0.7600;AF_eas=0.5440;AF_nfe=0.7630;AF_fin=0.7804;AF_asj=0.7586;AF_oth=0.7800;non_topmed_AF_popmax=0.8189;non_neuro_AF_popmax=0.8190;non_cancer_AF_popmax=.;controls_AF_popmax=0.8188;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.219904;ALLELE_END GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227069737 rs6759 C T 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=19385;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6759;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5388;ExAC_nontcga_ALL=0.4980;ExAC_nontcga_AFR=0.3919;ExAC_nontcga_AMR=0.5144;ExAC_nontcga_EAS=0.4042;ExAC_nontcga_FIN=0.5332;ExAC_nontcga_NFE=0.5458;ExAC_nontcga_OTH=0.5405;ExAC_nontcga_SAS=0.4165;AF=0.4779;AF_popmax=0.5402;AF_male=0.4716;AF_female=0.4857;AF_raw=0.4778;AF_afr=0.3853;AF_sas=.;AF_amr=0.5402;AF_eas=0.3927;AF_nfe=0.5185;AF_fin=0.5274;AF_asj=0.6;AF_oth=0.5268;non_topmed_AF_popmax=0.5359;non_neuro_AF_popmax=0.5380;non_cancer_AF_popmax=.;controls_AF_popmax=0.5528;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.315941;ALLELE_END GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071364 rs1295643 G A 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=15675;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1295643;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5378;ExAC_nontcga_ALL=0.4999;ExAC_nontcga_AFR=0.4018;ExAC_nontcga_AMR=0.5145;ExAC_nontcga_EAS=0.4147;ExAC_nontcga_FIN=0.5358;ExAC_nontcga_NFE=0.5468;ExAC_nontcga_OTH=0.5440;ExAC_nontcga_SAS=0.4240;AF=0.4783;AF_popmax=0.5392;AF_male=0.4722;AF_female=0.4860;AF_raw=0.4778;AF_afr=0.3860;AF_sas=.;AF_amr=0.5392;AF_eas=0.3945;AF_nfe=0.5187;AF_fin=0.5273;AF_asj=0.6;AF_oth=0.5276;non_topmed_AF_popmax=0.5348;non_neuro_AF_popmax=0.5365;non_cancer_AF_popmax=.;controls_AF_popmax=0.5528;Kaviar_AF=0.473131;Kaviar_AC=73147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071377 rs1295644 T C 100 PASS AC=168;AF=0.624401;AN=214;NS=2504;DP=15334;EAS_AF=0.4911;AMR_AF=0.6254;AFR_AF=0.5507;EUR_AF=0.7982;SAS_AF=0.682;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.624401;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1295644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.775;ExAC_nontcga_ALL=0.7224;ExAC_nontcga_AFR=0.5950;ExAC_nontcga_AMR=0.6785;ExAC_nontcga_EAS=0.5264;ExAC_nontcga_FIN=0.7835;ExAC_nontcga_NFE=0.7805;ExAC_nontcga_OTH=0.7555;ExAC_nontcga_SAS=0.6898;AF=0.6918;AF_popmax=0.7604;AF_male=0.6831;AF_female=0.7026;AF_raw=0.6914;AF_afr=0.5639;AF_sas=.;AF_amr=0.7009;AF_eas=0.4794;AF_nfe=0.7604;AF_fin=0.7772;AF_asj=0.7241;AF_oth=0.7537;non_topmed_AF_popmax=0.7629;non_neuro_AF_popmax=0.7591;non_cancer_AF_popmax=.;controls_AF_popmax=0.7557;Kaviar_AF=0.695211;Kaviar_AC=107481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227071383 rs59683545 C T 100 PASS AC=1;AF=0.0219649;AN=214;NS=2504;DP=15111;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.059;EUR_AF=0.001;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59683545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0517;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0260;ExAC_nontcga_SAS=0.0271;AF=0.0173;AF_popmax=0.0574;AF_male=0.0171;AF_female=0.0176;AF_raw=0.0173;AF_afr=0.0574;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0174;AF_oth=0.0064;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0624;non_cancer_AF_popmax=.;controls_AF_popmax=0.0607;Kaviar_AF=0.0099611;Kaviar_AC=1540;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071449 rs58973334 G A 100 PASS AC=1;AF=0.0179712;AN=214;NS=2504;DP=14556;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0461;EUR_AF=0.001;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.G185A:p.R62H,PSEN2:NM_012486:exon5:c.G185A:p.R62H;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58973334;CLNALLELEID=103887;CLNDN=Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.206;SIFT_converted_rankscore=0.275;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.236;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.548;LRT_converted_rankscore=0.053;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-6.68;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.356;PROVEAN_pred=N;VEST3_score=0.043;VEST3_rankscore=0.036;MetaSVM_score=0.771;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.404;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.294;REVEL_rankscore=0.618;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.001;CADD_raw_rankscore=0.301;CADD_phred=16.22;DANN_score=0.997;DANN_rankscore=0.802;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.109;Eigen-PC-raw=-1.091;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-4.6;GERP++_RS_rankscore=0.031;phyloP100way_vertebrate=-1.497;phyloP100way_vertebrate_rankscore=0.024;phyloP20way_mammalian=0.085;phyloP20way_mammalian_rankscore=0.192;phastCons100way_vertebrate=0.006;phastCons100way_vertebrate_rankscore=0.172;phastCons20way_mammalian=0.904;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=7.020;SiPhy_29way_logOdds_rankscore=0.239;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0407;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0264;AF=0.0142;AF_popmax=0.0458;AF_male=0.0139;AF_female=0.0145;AF_raw=0.0143;AF_afr=0.0458;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0.0172;AF_oth=0.0074;non_topmed_AF_popmax=0.0460;non_neuro_AF_popmax=0.0480;non_cancer_AF_popmax=.;controls_AF_popmax=0.0476;Kaviar_AF=0.0091267;Kaviar_AC=1411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.143693;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071475 rs140501902 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=14568;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C211T:p.R71W,PSEN2:NM_012486:exon5:c.C211T:p.R71W;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140501902;CLNALLELEID=189390;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.828;Polyphen2_HDIV_rankscore=0.441;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_converted_rankscore=0.309;LRT_pred=N;MutationTaster_score=0.644;MutationTaster_converted_rankscore=0.317;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-6.76;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-3.32;PROVEAN_converted_rankscore=0.678;PROVEAN_pred=D;VEST3_score=0.789;VEST3_rankscore=0.779;MetaSVM_score=0.973;MetaSVM_rankscore=0.968;MetaSVM_pred=D;MetaLR_score=0.893;MetaLR_rankscore=0.965;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.610;REVEL_rankscore=0.849;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.492;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.966;fathmm-MKL_coding_score=0.893;fathmm-MKL_coding_rankscore=0.494;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.317;Eigen-PC-raw=-0.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.92;GERP++_RS_rankscore=0.329;phyloP100way_vertebrate=1.505;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.158;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=11.913;SiPhy_29way_logOdds_rankscore=0.518;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0048;AF_popmax=0.0047;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0199;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.227454;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071525 rs1046240 C T 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=14633;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1046240;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5395;ExAC_nontcga_ALL=0.4977;ExAC_nontcga_AFR=0.3890;ExAC_nontcga_AMR=0.5155;ExAC_nontcga_EAS=0.4045;ExAC_nontcga_FIN=0.5331;ExAC_nontcga_NFE=0.5452;ExAC_nontcga_OTH=0.5418;ExAC_nontcga_SAS=0.4165;AF=0.4782;AF_popmax=0.5414;AF_male=0.4717;AF_female=0.4863;AF_raw=0.4778;AF_afr=0.3855;AF_sas=.;AF_amr=0.5414;AF_eas=0.3885;AF_nfe=0.5191;AF_fin=0.5276;AF_asj=0.6;AF_oth=0.5268;non_topmed_AF_popmax=0.5371;non_neuro_AF_popmax=0.5379;non_cancer_AF_popmax=.;controls_AF_popmax=0.5569;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.494062;ALLELE_END GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071564 rs200801915 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14098;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C300T:p.I100I,PSEN2:NM_012486:exon5:c.C300T:p.I100I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200801915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.192e-05;AF_popmax=.;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338584;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227073410 rs2236910 G C 100 PASS AC=169;AF=0.735623;AN=214;NS=2504;DP=17216;EAS_AF=0.5427;AMR_AF=0.7176;AFR_AF=0.8313;EUR_AF=0.8022;SAS_AF=0.7495;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.735623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2236910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.78;ExAC_nontcga_ALL=0.7607;ExAC_nontcga_AFR=0.8179;ExAC_nontcga_AMR=0.7393;ExAC_nontcga_EAS=0.5606;ExAC_nontcga_FIN=0.7868;ExAC_nontcga_NFE=0.7840;ExAC_nontcga_OTH=0.7834;ExAC_nontcga_SAS=0.7509;AF=0.7700;AF_popmax=0.8183;AF_male=0.7638;AF_female=0.7777;AF_raw=0.7694;AF_afr=0.8183;AF_sas=.;AF_amr=0.7559;AF_eas=0.5417;AF_nfe=0.7633;AF_fin=0.7810;AF_asj=0.7604;AF_oth=0.7796;non_topmed_AF_popmax=0.8191;non_neuro_AF_popmax=0.8190;non_cancer_AF_popmax=.;controls_AF_popmax=0.8183;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227073420 rs144791481 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17434;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144791481;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0023;AF_male=0.0017;AF_female=0.0008;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227075920 rs149734051 A G 100 PASS AC=2;AF=0.00419329;AN=214;NS=2504;DP=18068;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149734051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0113;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0165;AF_popmax=0.0209;AF_male=0.0152;AF_female=0.0182;AF_raw=0.0166;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0209;AF_fin=0.0461;AF_asj=0;AF_oth=0.0184;non_topmed_AF_popmax=0.0256;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.038;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227075939 rs1800679 C T 100 PASS AC=4;AF=0.00838658;AN=214;NS=2504;DP=17251;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0153;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800679;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0122;AF_popmax=0.0248;AF_male=0.0126;AF_female=0.0118;AF_raw=0.0123;AF_afr=0.0046;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0184;AF_fin=0.0040;AF_asj=0.0517;AF_oth=0.0101;non_topmed_AF_popmax=0.0222;non_neuro_AF_popmax=0.0271;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0174043;Kaviar_AC=453;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227076653 rs145010538 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18979;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.C690G:p.A230A,PSEN2:NM_012486:exon8:c.C690G:p.A230A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145010538;CLNALLELEID=279635;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.370835;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227076671 rs61730652 T C 100 PASS AC=5;AF=0.0291534;AN=214;NS=2504;DP=18772;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0893;EUR_AF=0.0129;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.T708C:p.S236S,PSEN2:NM_012486:exon8:c.T708C:p.S236S;1000g2015aug_all=0.0291534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61730652;CLNALLELEID=249751;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0130;ExAC_nontcga_AFR=0.0916;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0052;AF=0.0275;AF_popmax=0.0857;AF_male=0.0280;AF_female=0.0269;AF_raw=0.0277;AF_afr=0.0857;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0012;AF_asj=0.0241;AF_oth=0.0092;non_topmed_AF_popmax=0.0858;non_neuro_AF_popmax=0.0871;non_cancer_AF_popmax=.;controls_AF_popmax=0.0840;Kaviar_AF=0.0127941;Kaviar_AC=1978;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.319730;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227078955 rs2802267 T C 100 PASS AC=169;AF=0.722843;AN=214;NS=2504;DP=18088;EAS_AF=0.5565;AMR_AF=0.7104;AFR_AF=0.7753;EUR_AF=0.8022;SAS_AF=0.7505;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2802267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7797;ExAC_nontcga_ALL=0.7645;ExAC_nontcga_AFR=0.7743;ExAC_nontcga_AMR=0.7452;ExAC_nontcga_EAS=0.5923;ExAC_nontcga_FIN=0.7959;ExAC_nontcga_NFE=0.7893;ExAC_nontcga_OTH=0.7934;ExAC_nontcga_SAS=0.7587;AF=0.7570;AF_popmax=0.7678;AF_male=0.7514;AF_female=0.7640;AF_raw=0.7566;AF_afr=0.7678;AF_sas=.;AF_amr=0.7541;AF_eas=0.5606;AF_nfe=0.7634;AF_fin=0.7814;AF_asj=0.7639;AF_oth=0.7827;non_topmed_AF_popmax=0.7680;non_neuro_AF_popmax=0.7694;non_cancer_AF_popmax=.;controls_AF_popmax=0.7730;Kaviar_AF=0.741077;Kaviar_AC=114572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227081850 rs2855562 G A 100 PASS AC=146;AF=0.574081;AN=214;NS=2504;DP=15765;EAS_AF=0.6052;AMR_AF=0.6297;AFR_AF=0.4803;EUR_AF=0.6223;SAS_AF=0.5798;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.574081;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2855562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5608;ExAC_nontcga_ALL=0.5794;ExAC_nontcga_AFR=0.4955;ExAC_nontcga_AMR=0.6766;ExAC_nontcga_EAS=0.6543;ExAC_nontcga_FIN=0.6065;ExAC_nontcga_NFE=0.5714;ExAC_nontcga_OTH=0.6012;ExAC_nontcga_SAS=0.5372;AF=0.5433;AF_popmax=0.6686;AF_male=0.5400;AF_female=0.5474;AF_raw=0.5431;AF_afr=0.4893;AF_sas=.;AF_amr=0.6686;AF_eas=0.6573;AF_nfe=0.5395;AF_fin=0.5937;AF_asj=0.6276;AF_oth=0.5827;non_topmed_AF_popmax=0.6691;non_neuro_AF_popmax=0.6573;non_cancer_AF_popmax=.;controls_AF_popmax=0.6504;Kaviar_AF=0.556481;Kaviar_AC=86033;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 228399482 rs11804508 C G 100 PASS AC=143;AF=0.721046;AN=214;NS=2504;DP=13643;EAS_AF=0.8313;AMR_AF=0.6427;AFR_AF=0.6815;EUR_AF=0.6362;SAS_AF=0.8037;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=OBSCN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.721046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11804508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6129;ExAC_nontcga_ALL=0.6591;ExAC_nontcga_AFR=0.6731;ExAC_nontcga_AMR=0.6061;ExAC_nontcga_EAS=0.8236;ExAC_nontcga_FIN=0.6696;ExAC_nontcga_NFE=0.6195;ExAC_nontcga_OTH=0.6808;ExAC_nontcga_SAS=0.7882;AF=0.6394;AF_popmax=0.8353;AF_male=0.6417;AF_female=0.6366;AF_raw=0.6394;AF_afr=0.6588;AF_sas=.;AF_amr=0.5908;AF_eas=0.8353;AF_nfe=0.6102;AF_fin=0.6430;AF_asj=0.6345;AF_oth=0.6460;non_topmed_AF_popmax=0.8351;non_neuro_AF_popmax=0.8353;non_cancer_AF_popmax=.;controls_AF_popmax=0.8274;Kaviar_AF=0.576681;Kaviar_AC=89156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.339343;ALLELE_END GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228399519 rs191837710 T A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=13197;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T35A:p.F12Y,OBSCN:NM_001271223:exon2:c.T35A:p.F12Y,OBSCN:NM_052843:exon2:c.T35A:p.F12Y;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191837710;CLNALLELEID=513507;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.093;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.065;MutationAssessor_score_rankscore=0.873;MutationAssessor_pred=M;FATHMM_score=-0.71;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-1.75;PROVEAN_converted_rankscore=0.441;PROVEAN_pred=N;VEST3_score=0.393;VEST3_rankscore=0.452;MetaSVM_score=0.295;MetaSVM_rankscore=0.875;MetaSVM_pred=D;MetaLR_score=0.526;MetaLR_rankscore=0.824;MetaLR_pred=D;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.669;REVEL_rankscore=0.879;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.232;CADD_raw_rankscore=0.448;CADD_phred=22.8;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.977;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.688;Eigen-PC-raw=0.553;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=6.150;phyloP100way_vertebrate_rankscore=0.714;phyloP20way_mammalian=0.924;phyloP20way_mammalian_rankscore=0.433;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.510;phastCons20way_mammalian_rankscore=0.273;SiPhy_29way_logOdds=14.260;SiPhy_29way_logOdds_rankscore=0.655;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0056;ExAC_nontcga_SAS=0.0016;AF=0.0028;AF_popmax=0.0046;AF_male=0.0025;AF_female=0.0032;AF_raw=0.0028;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0046;AF_fin=0.0014;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0034088;Kaviar_AC=527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.767242;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228399671 rs117484136 G A 100 PASS AC=2;AF=0.0245607;AN=214;NS=2504;DP=10690;EAS_AF=0.0645;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.003;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.G187A:p.D63N,OBSCN:NM_001271223:exon2:c.G187A:p.D63N,OBSCN:NM_052843:exon2:c.G187A:p.D63N;1000g2015aug_all=0.0245607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117484136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.515;SIFT_converted_rankscore=0.178;SIFT_pred=T;Polyphen2_HDIV_score=0.881;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.281;Polyphen2_HVAR_rankscore=0.386;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.635;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.635;MutationAssessor_score_rankscore=0.160;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.008;VEST3_rankscore=0.020;MetaSVM_score=-1.095;MetaSVM_rankscore=0.047;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.073;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.150;CADD_raw_rankscore=0.556;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.861;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.779;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.110;Eigen-PC-raw=0.229;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=5.753;phyloP100way_vertebrate_rankscore=0.682;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.749;phastCons20way_mammalian_rankscore=0.321;SiPhy_29way_logOdds=11.127;SiPhy_29way_logOdds_rankscore=0.474;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0179;ExAC_nontcga_AFR=0.0378;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.1128;ExAC_nontcga_FIN=0.0121;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0179;ExAC_nontcga_SAS=0.0141;AF=0.0112;AF_popmax=0.0644;AF_male=0.0113;AF_female=0.0112;AF_raw=0.0113;AF_afr=0.0223;AF_sas=.;AF_amr=0.0035;AF_eas=0.0644;AF_nfe=0.0016;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0653;non_neuro_AF_popmax=0.0644;non_cancer_AF_popmax=.;controls_AF_popmax=0.0637;Kaviar_AF=0.0085769;Kaviar_AC=1326;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.227586;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228399766 rs55971985 T C 100 PASS AC=143;AF=0.726238;AN=214;NS=2504;DP=9624;EAS_AF=0.8244;AMR_AF=0.6441;AFR_AF=0.7057;EUR_AF=0.6372;SAS_AF=0.8027;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;1000g2015aug_all=0.726238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55971985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6178;ExAC_nontcga_ALL=0.6992;ExAC_nontcga_AFR=0.7018;ExAC_nontcga_AMR=0.6365;ExAC_nontcga_EAS=0.8323;ExAC_nontcga_FIN=0.7538;ExAC_nontcga_NFE=0.6251;ExAC_nontcga_OTH=0.6061;ExAC_nontcga_SAS=0.7566;AF=0.6451;AF_popmax=0.8222;AF_male=0.6474;AF_female=0.6421;AF_raw=0.6445;AF_afr=0.6794;AF_sas=.;AF_amr=0.5928;AF_eas=0.8222;AF_nfe=0.6103;AF_fin=0.6440;AF_asj=0.6345;AF_oth=0.6537;non_topmed_AF_popmax=0.8223;non_neuro_AF_popmax=0.8222;non_cancer_AF_popmax=.;controls_AF_popmax=0.8129;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.799616;ALLELE_END GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228399799 rs11582369 C T 100 PASS AC=3;AF=0.0507188;AN=214;NS=2504;DP=8585;EAS_AF=0.121;AMR_AF=0.0591;AFR_AF=0.0129;EUR_AF=0.0338;SAS_AF=0.0409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.C315T:p.C105C,OBSCN:NM_001271223:exon2:c.C315T:p.C105C,OBSCN:NM_052843:exon2:c.C315T:p.C105C;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11582369;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.037;ExAC_nontcga_ALL=0.0404;ExAC_nontcga_AFR=0.0382;ExAC_nontcga_AMR=0.0887;ExAC_nontcga_EAS=0.1203;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0467;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0348;AF=0.0446;AF_popmax=0.1155;AF_male=0.0450;AF_female=0.0441;AF_raw=0.0448;AF_afr=0.0179;AF_sas=.;AF_amr=0.0639;AF_eas=0.1155;AF_nfe=0.0477;AF_fin=0.0623;AF_asj=0.0172;AF_oth=0.0491;non_topmed_AF_popmax=0.1164;non_neuro_AF_popmax=0.1155;non_cancer_AF_popmax=.;controls_AF_popmax=0.1239;Kaviar_AF=0.0192236;Kaviar_AC=2972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.686199;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228401183 rs569727649 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=7355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.G1030C:p.V344L,OBSCN:NM_001271223:exon3:c.G1030C:p.V344L,OBSCN:NM_052843:exon3:c.G1030C:p.V344L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569727649;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.152;SIFT_converted_rankscore=0.424;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.75;MutationAssessor_score_rankscore=0.806;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.366;VEST3_rankscore=0.427;MetaSVM_score=0.060;MetaSVM_rankscore=0.834;MetaSVM_pred=D;MetaLR_score=0.572;MetaLR_rankscore=0.845;MetaLR_pred=D;M-CAP_score=0.078;M-CAP_rankscore=0.731;M-CAP_pred=D;REVEL_score=0.522;REVEL_rankscore=0.800;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.903;CADD_raw_rankscore=0.659;CADD_phred=24.9;DANN_score=0.996;DANN_rankscore=0.713;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.738;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.913;Eigen-PC-raw=0.882;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.564;integrated_fitCons_score_rankscore=0.319;integrated_confidence_value=0;GERP++_RS=5.47;GERP++_RS_rankscore=0.803;phyloP100way_vertebrate=9.818;phyloP100way_vertebrate_rankscore=0.983;phyloP20way_mammalian=1.029;phyloP20way_mammalian_rankscore=0.652;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=19.308;SiPhy_29way_logOdds_rankscore=0.941;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0045;AF=0.0001;AF_popmax=0.0002;AF_male=5.727e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1850440|N/A|RB1|PAZAR,OREG1507123|N/A|EGR1|PAZAR,OREG1820737|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.127294;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228401329 rs185717159 C T 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=6657;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.C1176T:p.R392R,OBSCN:NM_001271223:exon3:c.C1176T:p.R392R,OBSCN:NM_052843:exon3:c.C1176T:p.R392R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185717159;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0074;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0006;AF=0.0042;AF_popmax=0.0066;AF_male=0.0046;AF_female=0.0037;AF_raw=0.0042;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0017;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0032147;Kaviar_AC=497;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1820737|N/A|RBL2|PAZAR,OREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.907049;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228402047 rs1620111 A G 100 PASS AC=143;AF=0.719848;AN=214;NS=2504;DP=12933;EAS_AF=0.8244;AMR_AF=0.6427;AFR_AF=0.6808;EUR_AF=0.6372;SAS_AF=0.8047;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;1000g2015aug_all=0.719848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1620111;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6095;ExAC_nontcga_ALL=0.6574;ExAC_nontcga_AFR=0.6606;ExAC_nontcga_AMR=0.6027;ExAC_nontcga_EAS=0.8098;ExAC_nontcga_FIN=0.6609;ExAC_nontcga_NFE=0.6125;ExAC_nontcga_OTH=0.6609;ExAC_nontcga_SAS=0.7669;AF=0.6393;AF_popmax=0.8192;AF_male=0.6413;AF_female=0.6367;AF_raw=0.6393;AF_afr=0.6609;AF_sas=.;AF_amr=0.5908;AF_eas=0.8192;AF_nfe=0.6102;AF_fin=0.6428;AF_asj=0.6345;AF_oth=0.6479;non_topmed_AF_popmax=0.8193;non_neuro_AF_popmax=0.8192;non_cancer_AF_popmax=.;controls_AF_popmax=0.8107;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.279925;ALLELE_END GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228402097 rs190195191 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15529;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.C1481G:p.A494G,OBSCN:NM_001271223:exon4:c.C1481G:p.A494G,OBSCN:NM_052843:exon4:c.C1481G:p.A494G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190195191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.841;Polyphen2_HDIV_rankscore=0.477;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.43;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.35;MutationAssessor_score_rankscore=0.913;MutationAssessor_pred=M;FATHMM_score=-1.49;FATHMM_converted_rankscore=0.812;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.375;VEST3_rankscore=0.444;MetaSVM_score=0.236;MetaSVM_rankscore=0.865;MetaSVM_pred=D;MetaLR_score=0.603;MetaLR_rankscore=0.859;MetaLR_pred=D;M-CAP_score=0.107;M-CAP_rankscore=0.783;M-CAP_pred=D;REVEL_score=0.463;REVEL_rankscore=0.762;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.698;CADD_raw_rankscore=0.502;CADD_phred=23.3;DANN_score=0.971;DANN_rankscore=0.318;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.711;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.219;Eigen-PC-raw=0.121;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.767;integrated_fitCons_score_rankscore=0.994;integrated_confidence_value=0;GERP++_RS=4.34;GERP++_RS_rankscore=0.511;phyloP100way_vertebrate=2.621;phyloP100way_vertebrate_rankscore=0.458;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.069;phastCons20way_mammalian_rankscore=0.175;SiPhy_29way_logOdds=15.757;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.294174;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228402121 rs1771487 A G 100 PASS AC=142;AF=0.719649;AN=214;NS=2504;DP=13804;EAS_AF=0.8244;AMR_AF=0.6427;AFR_AF=0.6815;EUR_AF=0.6362;SAS_AF=0.8037;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;1000g2015aug_all=0.719649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771487;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.901;SIFT_converted_rankscore=0.242;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.513;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=0.62;MutationAssessor_score_rankscore=0.158;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_converted_rankscore=0.760;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.302;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.331;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.997;DANN_rankscore=0.778;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.306;Eigen-PC-raw=-0.081;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.767;integrated_fitCons_score_rankscore=0.994;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=3.899;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.348;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=15.165;SiPhy_29way_logOdds_rankscore=0.724;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162910.14|ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000162910.14|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6065;ExAC_nontcga_ALL=0.6572;ExAC_nontcga_AFR=0.6598;ExAC_nontcga_AMR=0.6025;ExAC_nontcga_EAS=0.8097;ExAC_nontcga_FIN=0.6616;ExAC_nontcga_NFE=0.6122;ExAC_nontcga_OTH=0.6609;ExAC_nontcga_SAS=0.7669;AF=0.6393;AF_popmax=0.8206;AF_male=0.6417;AF_female=0.6364;AF_raw=0.6390;AF_afr=0.6598;AF_sas=.;AF_amr=0.5912;AF_eas=0.8206;AF_nfe=0.6108;AF_fin=0.6431;AF_asj=0.6345;AF_oth=0.6470;non_topmed_AF_popmax=0.8208;non_neuro_AF_popmax=0.8206;non_cancer_AF_popmax=.;controls_AF_popmax=0.8125;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.607743;ALLELE_END GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228402508 rs2776853 C T 100 PASS AC=70;AF=0.275759;AN=214;NS=2504;DP=17070;EAS_AF=0.1706;AMR_AF=0.353;AFR_AF=0.3086;EUR_AF=0.3618;SAS_AF=0.1963;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1537T:p.L513L,OBSCN:NM_001271223:exon5:c.C1537T:p.L513L,OBSCN:NM_052843:exon5:c.C1537T:p.L513L;1000g2015aug_all=0.275759;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2776853;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3900;ExAC_nontcga_ALL=0.3613;ExAC_nontcga_AFR=0.3615;ExAC_nontcga_AMR=0.4150;ExAC_nontcga_EAS=0.1976;ExAC_nontcga_FIN=0.3585;ExAC_nontcga_NFE=0.4010;ExAC_nontcga_OTH=0.3580;ExAC_nontcga_SAS=0.2636;AF=0.3591;AF_popmax=0.4057;AF_male=0.3575;AF_female=0.3611;AF_raw=0.3592;AF_afr=0.3369;AF_sas=.;AF_amr=0.4057;AF_eas=0.1757;AF_nfe=0.3886;AF_fin=0.3565;AF_asj=0.3655;AF_oth=0.3508;non_topmed_AF_popmax=0.4012;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.339226;Kaviar_AC=52445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 0|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228402639 rs555741607 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17923;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1668T:p.G556G,OBSCN:NM_001271223:exon5:c.C1668T:p.G556G,OBSCN:NM_052843:exon5:c.C1668T:p.G556G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555741607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.715e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.88e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228403476 rs200396174 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17846;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon6:c.C2041G:p.Q681E,OBSCN:NM_001271223:exon6:c.C2041G:p.Q681E,OBSCN:NM_052843:exon6:c.C2041G:p.Q681E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200396174;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.398;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=0.7;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.03;PROVEAN_converted_rankscore=0.080;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.109;MetaSVM_score=-1.091;MetaSVM_rankscore=0.053;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.421;M-CAP_pred=T;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=0.559;MutPred_rankscore=0.679;CADD_raw=-1.394;CADD_raw_rankscore=0.019;CADD_phred=0.003;DANN_score=0.602;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.030;fathmm-MKL_coding_rankscore=0.077;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.824;Eigen-PC-raw=-0.729;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.420;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=1.85;GERP++_RS_rankscore=0.243;phyloP100way_vertebrate=1.283;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.038;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.725;phastCons100way_vertebrate_rankscore=0.286;phastCons20way_mammalian=0.202;phastCons20way_mammalian_rankscore=0.218;SiPhy_29way_logOdds=11.366;SiPhy_29way_logOdds_rankscore=0.487;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507134|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.715202;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228403500 rs549243439 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18019;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon6:c.A2065C:p.I689L,OBSCN:NM_001271223:exon6:c.A2065C:p.I689L,OBSCN:NM_052843:exon6:c.A2065C:p.I689L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549243439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.544;SIFT_converted_rankscore=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.201;Polyphen2_HDIV_rankscore=0.280;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.239;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.327;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.26;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_converted_rankscore=0.314;PROVEAN_pred=N;VEST3_score=0.137;VEST3_rankscore=0.244;MetaSVM_score=-0.972;MetaSVM_rankscore=0.368;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=0.062;M-CAP_rankscore=0.686;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=0.503;MutPred_rankscore=0.597;CADD_raw=0.728;CADD_raw_rankscore=0.163;CADD_phred=9.010;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.380;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.790;Eigen-PC-raw=-0.743;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.98;GERP++_RS_rankscore=0.452;phyloP100way_vertebrate=-0.227;phyloP100way_vertebrate_rankscore=0.091;phyloP20way_mammalian=0.243;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.882;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=10.657;SiPhy_29way_logOdds_rankscore=0.447;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507134|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404198 rs61501937 G A 100 PASS AC=3;AF=0.0535144;AN=214;NS=2504;DP=13324;EAS_AF=0.119;AMR_AF=0.0562;AFR_AF=0.0219;EUR_AF=0.0338;SAS_AF=0.047;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2172A:p.A724A,OBSCN:NM_001271223:exon7:c.G2172A:p.A724A,OBSCN:NM_052843:exon7:c.G2172A:p.A724A;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61501937;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0367;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.1433;ExAC_nontcga_EAS=0.1939;ExAC_nontcga_FIN=0.1338;ExAC_nontcga_NFE=0.0954;ExAC_nontcga_OTH=0.0968;ExAC_nontcga_SAS=0.0461;AF=0.0481;AF_popmax=0.1173;AF_male=0.0491;AF_female=0.0468;AF_raw=0.0481;AF_afr=0.0305;AF_sas=.;AF_amr=0.0697;AF_eas=0.1173;AF_nfe=0.0462;AF_fin=0.0633;AF_asj=0.0483;AF_oth=0.0506;non_topmed_AF_popmax=0.1183;non_neuro_AF_popmax=0.1173;non_cancer_AF_popmax=.;controls_AF_popmax=0.1255;Kaviar_AF=0.0294563;Kaviar_AC=4554;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.581921;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228404305 rs180689095 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=14624;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2279A:p.R760Q,OBSCN:NM_001271223:exon7:c.G2279A:p.R760Q,OBSCN:NM_052843:exon7:c.G2279A:p.R760Q;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs180689095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.612;SIFT_converted_rankscore=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.238;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.481;LRT_converted_rankscore=0.050;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.236;MutationTaster_pred=N;MutationAssessor_score=0.94;MutationAssessor_score_rankscore=0.237;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.389;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.040;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.414;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.165;REVEL_rankscore=0.429;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.246;CADD_raw_rankscore=0.072;CADD_phred=0.876;DANN_score=0.840;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.028;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.425;Eigen-PC-raw=-1.499;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.372;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-5.63;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-0.249;phyloP100way_vertebrate_rankscore=0.088;phyloP20way_mammalian=-0.785;phyloP20way_mammalian_rankscore=0.033;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=14.566;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0084;ExAC_nontcga_ALL=0.0126;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0186;ExAC_nontcga_OTH=0.0196;ExAC_nontcga_SAS=0.0086;AF=0.0060;AF_popmax=0.0086;AF_male=0.0056;AF_female=0.0065;AF_raw=0.0060;AF_afr=0.0023;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0049935;Kaviar_AC=772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404368 rs144514297 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14889;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2342A:p.R781H,OBSCN:NM_001271223:exon7:c.G2342A:p.R781H,OBSCN:NM_052843:exon7:c.G2342A:p.R781H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144514297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.209;SIFT_converted_rankscore=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_rankscore=0.200;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.339;LRT_converted_rankscore=0.042;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.195;MutationAssessor_score_rankscore=0.092;MutationAssessor_pred=N;FATHMM_score=3.5;FATHMM_converted_rankscore=0.050;FATHMM_pred=T;PROVEAN_score=-0.58;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.041;MetaSVM_score=-0.932;MetaSVM_rankscore=0.438;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.045;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.162;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.297;CADD_raw_rankscore=0.123;CADD_phred=5.666;DANN_score=0.851;DANN_rankscore=0.152;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.413;Eigen-PC-raw=-1.448;GenoCanyon_score=0.911;GenoCanyon_score_rankscore=0.263;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-3.06;GERP++_RS_rankscore=0.050;phyloP100way_vertebrate=-1.697;phyloP100way_vertebrate_rankscore=0.020;phyloP20way_mammalian=-0.840;phyloP20way_mammalian_rankscore=0.030;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.016;phastCons20way_mammalian_rankscore=0.126;SiPhy_29way_logOdds=6.078;SiPhy_29way_logOdds_rankscore=0.190;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0053;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404668 rs3795777 T C 100 PASS AC=74;AF=0.336462;AN=214;NS=2504;DP=18009;EAS_AF=0.3502;AMR_AF=0.3473;AFR_AF=0.3616;EUR_AF=0.3688;SAS_AF=0.2474;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336462;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795777;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3954;ExAC_nontcga_ALL=0.3811;ExAC_nontcga_AFR=0.3907;ExAC_nontcga_AMR=0.4159;ExAC_nontcga_EAS=0.3954;ExAC_nontcga_FIN=0.3501;ExAC_nontcga_NFE=0.4056;ExAC_nontcga_OTH=0.3786;ExAC_nontcga_SAS=0.2767;AF=0.3846;AF_popmax=0.4269;AF_male=0.3856;AF_female=0.3834;AF_raw=0.3847;AF_afr=0.3775;AF_sas=.;AF_amr=0.4269;AF_eas=0.3479;AF_nfe=0.3960;AF_fin=0.3682;AF_asj=0.3897;AF_oth=0.3527;non_topmed_AF_popmax=0.4259;non_neuro_AF_popmax=0.4440;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.341697;Kaviar_AC=52827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228404901 rs572638996 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15393;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon8:c.G2565A:p.L855L,OBSCN:NM_001271223:exon8:c.G2565A:p.L855L,OBSCN:NM_052843:exon8:c.G2565A:p.L855L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572638996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404997 rs115777899 C T 100 PASS AC=6;AF=0.0169728;AN=214;NS=2504;DP=16437;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0358;SAS_AF=0.0389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115777899;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0314;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0270;ExAC_nontcga_SAS=0.0499;AF=0.0262;AF_popmax=0.0417;AF_male=0.0262;AF_female=0.0263;AF_raw=0.0263;AF_afr=0.0065;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0417;AF_fin=0.0225;AF_asj=0.0241;AF_oth=0.0258;non_topmed_AF_popmax=0.0417;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0394;Kaviar_AF=0.0304783;Kaviar_AC=4712;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407010 rs1757158 C T 100 PASS AC=72;AF=0.285343;AN=214;NS=2504;DP=20731;EAS_AF=0.1756;AMR_AF=0.3545;AFR_AF=0.3427;EUR_AF=0.3579;SAS_AF=0.1973;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285343;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757158;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4088;ExAC_nontcga_AFR=0.4364;ExAC_nontcga_AMR=0.4966;ExAC_nontcga_EAS=0.2657;ExAC_nontcga_FIN=0.4069;ExAC_nontcga_NFE=0.4492;ExAC_nontcga_OTH=0.4116;ExAC_nontcga_SAS=0.2760;AF=0.3674;AF_popmax=0.4080;AF_male=0.3667;AF_female=0.3684;AF_raw=0.3674;AF_afr=0.3708;AF_sas=.;AF_amr=0.4080;AF_eas=0.1797;AF_nfe=0.3852;AF_fin=0.3607;AF_asj=0.3655;AF_oth=0.3490;non_topmed_AF_popmax=0.4037;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3943;Kaviar_AF=0.322253;Kaviar_AC=49821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228407059 rs141906801 G T 100 PASS AC=5;AF=0.0135783;AN=214;NS=2504;DP=21064;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0308;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2688T:p.A896A;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141906801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0276;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0.0124;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0241;ExAC_nontcga_NFE=0.0372;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0310;AF=0.0236;AF_popmax=0.0374;AF_male=0.0236;AF_female=0.0237;AF_raw=0.0236;AF_afr=0.0061;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0374;AF_fin=0.0196;AF_asj=0.0241;AF_oth=0.0239;non_topmed_AF_popmax=0.0374;non_neuro_AF_popmax=0.0372;non_cancer_AF_popmax=.;controls_AF_popmax=0.0353;Kaviar_AF=0.0252843;Kaviar_AC=3909;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407260 rs1771484 G A 100 PASS AC=72;AF=0.277157;AN=214;NS=2504;DP=19787;EAS_AF=0.1746;AMR_AF=0.3487;AFR_AF=0.3147;EUR_AF=0.3588;SAS_AF=0.1973;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2889A:p.E963E;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771484;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3811;ExAC_nontcga_AFR=0.3825;ExAC_nontcga_AMR=0.4367;ExAC_nontcga_EAS=0.2217;ExAC_nontcga_FIN=0.3782;ExAC_nontcga_NFE=0.4159;ExAC_nontcga_OTH=0.3834;ExAC_nontcga_SAS=0.2860;AF=0.3586;AF_popmax=0.4057;AF_male=0.3587;AF_female=0.3586;AF_raw=0.3590;AF_afr=0.3401;AF_sas=.;AF_amr=0.4057;AF_eas=0.1804;AF_nfe=0.3848;AF_fin=0.3602;AF_asj=0.3655;AF_oth=0.3474;non_topmed_AF_popmax=0.4012;non_neuro_AF_popmax=0.4224;non_cancer_AF_popmax=.;controls_AF_popmax=0.3943;Kaviar_AF=0.319084;Kaviar_AC=49331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228407265 rs61560753 G A 100 PASS AC=1;AF=0.0429313;AN=214;NS=2504;DP=19953;EAS_AF=0.1181;AMR_AF=0.0519;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2894A:p.R965K;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61560753;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.59;FATHMM_converted_rankscore=0.046;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.971;CADD_raw_rankscore=0.187;CADD_phred=10.49;DANN_score=0.753;DANN_rankscore=0.107;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.866;Eigen-PC-raw=-0.038;GenoCanyon_score=0.026;GenoCanyon_score_rankscore=0.137;integrated_fitCons_score=0.284;integrated_fitCons_score_rankscore=0.042;integrated_confidence_value=0;GERP++_RS=4.6;GERP++_RS_rankscore=0.564;phyloP100way_vertebrate=0.440;phyloP100way_vertebrate_rankscore=0.212;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.902;phastCons20way_mammalian_rankscore=0.382;SiPhy_29way_logOdds=7.463;SiPhy_29way_logOdds_rankscore=0.263;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0508;ExAC_nontcga_AFR=0.0055;ExAC_nontcga_AMR=0.0827;ExAC_nontcga_EAS=0.1435;ExAC_nontcga_FIN=0.0697;ExAC_nontcga_NFE=0.0363;ExAC_nontcga_OTH=0.0469;ExAC_nontcga_SAS=0.0470;AF=0.0333;AF_popmax=0.1170;AF_male=0.0333;AF_female=0.0333;AF_raw=0.0334;AF_afr=0.0053;AF_sas=.;AF_amr=0.0554;AF_eas=0.1170;AF_nfe=0.0338;AF_fin=0.0576;AF_asj=0.0034;AF_oth=0.0432;non_topmed_AF_popmax=0.1179;non_neuro_AF_popmax=0.1170;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0318237;Kaviar_AC=4920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407285 rs61537173 C T 100 PASS AC=2;AF=0.0307508;AN=214;NS=2504;DP=19961;EAS_AF=0.0694;AMR_AF=0.0058;AFR_AF=0.0461;EUR_AF=0.003;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.C2914T:p.R972C;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61537173;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.492;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.51;FATHMM_converted_rankscore=0.050;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.064;VEST3_rankscore=0.049;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.265;CADD_raw_rankscore=0.451;CADD_phred=22.8;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.119;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.099;Eigen-PC-raw=-0.158;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.094;integrated_fitCons_score=0.284;integrated_fitCons_score_rankscore=0.042;integrated_confidence_value=0;GERP++_RS=0.444;GERP++_RS_rankscore=0.157;phyloP100way_vertebrate=0.359;phyloP100way_vertebrate_rankscore=0.198;phyloP20way_mammalian=-0.357;phyloP20way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.023;phastCons100way_vertebrate_rankscore=0.197;phastCons20way_mammalian=0.020;phastCons20way_mammalian_rankscore=0.134;SiPhy_29way_logOdds=6.593;SiPhy_29way_logOdds_rankscore=0.217;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0655;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0.1161;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0242;ExAC_nontcga_SAS=0.0226;AF=0.0167;AF_popmax=0.0674;AF_male=0.0169;AF_female=0.0164;AF_raw=0.0167;AF_afr=0.0407;AF_sas=.;AF_amr=0.0047;AF_eas=0.0674;AF_nfe=0.0018;AF_fin=0.0072;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0684;non_neuro_AF_popmax=0.0674;non_cancer_AF_popmax=.;controls_AF_popmax=0.0677;Kaviar_AF=0.010388;Kaviar_AC=1606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228412106 rs1771482 T C 100 PASS AC=75;AF=0.412141;AN=214;NS=2504;DP=19939;EAS_AF=0.3839;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3658;SAS_AF=0.2577;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.412141;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771482;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4402;AF_popmax=0.5726;AF_male=0.4430;AF_female=0.4367;AF_raw=0.4403;AF_afr=0.5726;AF_sas=.;AF_amr=0.4657;AF_eas=0.3902;AF_nfe=0.3910;AF_fin=0.3705;AF_asj=0.3897;AF_oth=0.3672;non_topmed_AF_popmax=0.5728;non_neuro_AF_popmax=0.5797;non_cancer_AF_popmax=.;controls_AF_popmax=0.5741;Kaviar_AF=0.077347;Kaviar_AC=11958;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412227 rs1771480 T C 100 PASS AC=75;AF=0.41254;AN=214;NS=2504;DP=17552;EAS_AF=0.3849;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3668;SAS_AF=0.2577;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.T2721C:p.S907S,OBSCN:NM_052843:exon9:c.T2721C:p.S907S,OBSCN:NM_001271223:exon10:c.T2997C:p.S999S;1000g2015aug_all=0.41254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3990;ExAC_nontcga_AFR=0.5903;ExAC_nontcga_AMR=0.4789;ExAC_nontcga_EAS=0.4205;ExAC_nontcga_FIN=0.3488;ExAC_nontcga_NFE=0.3911;ExAC_nontcga_OTH=0.3619;ExAC_nontcga_SAS=0.2840;AF=0.4390;AF_popmax=0.5720;AF_male=0.4418;AF_female=0.4355;AF_raw=0.4396;AF_afr=0.5720;AF_sas=.;AF_amr=0.4632;AF_eas=0.3911;AF_nfe=0.3887;AF_fin=0.3702;AF_asj=0.3897;AF_oth=0.3683;non_topmed_AF_popmax=0.5722;non_neuro_AF_popmax=0.5781;non_cancer_AF_popmax=.;controls_AF_popmax=0.5732;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412228 rs1757153 G A 100 PASS AC=73;AF=0.284145;AN=214;NS=2504;DP=17550;EAS_AF=0.1756;AMR_AF=0.3559;AFR_AF=0.3351;EUR_AF=0.3618;SAS_AF=0.1963;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2722A:p.A908T,OBSCN:NM_052843:exon9:c.G2722A:p.A908T,OBSCN:NM_001271223:exon10:c.G2998A:p.A1000T;1000g2015aug_all=0.284145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757153;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.568;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.326;Polyphen2_HVAR_rankscore=0.521;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=0.005;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.965;MutationAssessor_score_rankscore=0.534;MutationAssessor_pred=M;FATHMM_score=3.36;FATHMM_converted_rankscore=0.703;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=N;VEST3_score=0.224;VEST3_rankscore=0.275;MetaSVM_score=-0.879;MetaSVM_rankscore=0.499;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.161;REVEL_rankscore=0.422;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.136;CADD_raw_rankscore=0.318;CADD_phred=17.09;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.650;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.127;Eigen-PC-raw=0.054;GenoCanyon_score=0.808;GenoCanyon_score_rankscore=0.243;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=3.620;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.131;phastCons20way_mammalian_rankscore=0.199;SiPhy_29way_logOdds=12.898;SiPhy_29way_logOdds_rankscore=0.573;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000162910.14|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3437;ExAC_nontcga_AFR=0.3609;ExAC_nontcga_AMR=0.3987;ExAC_nontcga_EAS=0.1918;ExAC_nontcga_FIN=0.3408;ExAC_nontcga_NFE=0.3853;ExAC_nontcga_OTH=0.3401;ExAC_nontcga_SAS=0.2337;AF=0.3634;AF_popmax=0.4050;AF_male=0.3630;AF_female=0.3639;AF_raw=0.3642;AF_afr=0.3583;AF_sas=.;AF_amr=0.4050;AF_eas=0.1791;AF_nfe=0.3841;AF_fin=0.3607;AF_asj=0.3655;AF_oth=0.3502;non_topmed_AF_popmax=0.4005;non_neuro_AF_popmax=0.4236;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.325927;Kaviar_AC=50389;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412308 rs1757152 G A 100 PASS AC=75;AF=0.41254;AN=214;NS=2504;DP=19773;EAS_AF=0.3839;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3678;SAS_AF=0.2577;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2802A:p.S934S,OBSCN:NM_052843:exon9:c.G2802A:p.S934S,OBSCN:NM_001271223:exon10:c.G3078A:p.S1026S;1000g2015aug_all=0.41254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757152;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3925;ExAC_nontcga_ALL=0.4000;ExAC_nontcga_AFR=0.5888;ExAC_nontcga_AMR=0.4781;ExAC_nontcga_EAS=0.4184;ExAC_nontcga_FIN=0.3495;ExAC_nontcga_NFE=0.3930;ExAC_nontcga_OTH=0.3663;ExAC_nontcga_SAS=0.2849;AF=0.4420;AF_popmax=0.5729;AF_male=0.4443;AF_female=0.4392;AF_raw=0.4420;AF_afr=0.5729;AF_sas=.;AF_amr=0.4670;AF_eas=0.3902;AF_nfe=0.3940;AF_fin=0.3710;AF_asj=0.3897;AF_oth=0.3708;non_topmed_AF_popmax=0.5732;non_neuro_AF_popmax=0.5802;non_cancer_AF_popmax=.;controls_AF_popmax=0.5744;Kaviar_AF=0.394186;Kaviar_AC=60942;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412415 rs200058427 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.C2909T:p.S970F,OBSCN:NM_052843:exon9:c.C2909T:p.S970F,OBSCN:NM_001271223:exon10:c.C3185T:p.S1062F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200058427;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.142;SIFT_converted_rankscore=0.260;SIFT_pred=T;Polyphen2_HDIV_score=0.182;Polyphen2_HDIV_rankscore=0.275;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.225;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.077;LRT_converted_rankscore=0.211;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.72;MutationAssessor_score_rankscore=0.446;MutationAssessor_pred=L;FATHMM_score=3.22;FATHMM_converted_rankscore=0.070;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=N;VEST3_score=0.079;VEST3_rankscore=0.168;MetaSVM_score=-1.090;MetaSVM_rankscore=0.056;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.127;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.451;M-CAP_pred=T;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.038;CADD_raw_rankscore=0.194;CADD_phred=10.88;DANN_score=0.298;DANN_rankscore=0.016;fathmm-MKL_coding_score=0.813;fathmm-MKL_coding_rankscore=0.404;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.653;Eigen-PC-raw=-0.620;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.103;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=0.436;phyloP100way_vertebrate_rankscore=0.211;phyloP20way_mammalian=-0.471;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.074;phastCons100way_vertebrate_rankscore=0.220;phastCons20way_mammalian=0.078;phastCons20way_mammalian_rankscore=0.180;SiPhy_29way_logOdds=9.765;SiPhy_29way_logOdds_rankscore=0.395;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=6.369e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228431095 rs1771455 A G 100 PASS AC=122;AF=0.616613;AN=214;NS=2504;DP=18464;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7095;EUR_AF=0.6412;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;1000g2015aug_all=0.616613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771455;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6828;ExAC_nontcga_ALL=0.6476;ExAC_nontcga_AFR=0.7080;ExAC_nontcga_AMR=0.6710;ExAC_nontcga_EAS=0.5802;ExAC_nontcga_FIN=0.7014;ExAC_nontcga_NFE=0.6811;ExAC_nontcga_OTH=0.6327;ExAC_nontcga_SAS=0.5012;AF=0.6876;AF_popmax=0.7029;AF_male=0.6859;AF_female=0.6898;AF_raw=0.6875;AF_afr=0.7029;AF_sas=.;AF_amr=0.6922;AF_eas=0.5432;AF_nfe=0.6897;AF_fin=0.7105;AF_asj=0.6241;AF_oth=0.6814;non_topmed_AF_popmax=0.7021;non_neuro_AF_popmax=0.7090;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228431930 rs10916293 C T 100 PASS AC=122;AF=0.616813;AN=214;NS=2504;DP=18740;EAS_AF=0.5982;AMR_AF=0.6527;AFR_AF=0.711;EUR_AF=0.6412;SAS_AF=0.4581;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.616813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10916293;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6882;AF_popmax=0.7036;AF_male=0.6862;AF_female=0.6908;AF_raw=0.6874;AF_afr=0.7036;AF_sas=.;AF_amr=0.6915;AF_eas=0.5457;AF_nfe=0.6902;AF_fin=0.7107;AF_asj=0.6285;AF_oth=0.6820;non_topmed_AF_popmax=0.7028;non_neuro_AF_popmax=0.7101;non_cancer_AF_popmax=.;controls_AF_popmax=0.7105;Kaviar_AF=0.128588;Kaviar_AC=19880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1925937|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228432061 rs147753732 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=12075;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.C3270T:p.A1090A,OBSCN:NM_052843:exon11:c.C3270T:p.A1090A,OBSCN:NM_001271223:exon12:c.C3546T:p.A1182A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147753732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0026;AF_popmax=0.0045;AF_male=0.0021;AF_female=0.0034;AF_raw=0.0026;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0026;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0058;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0096;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1925937|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228432264 rs41305731 A T 100 PASS AC=11;AF=0.0171725;AN=214;NS=2504;DP=17271;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0457;SAS_AF=0.0286;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.A3473T:p.H1158L,OBSCN:NM_052843:exon11:c.A3473T:p.H1158L,OBSCN:NM_001271223:exon12:c.A3749T:p.H1250L;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.217;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.364;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.297;Polyphen2_HVAR_pred=B;LRT_score=0.085;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.825;MutationAssessor_score_rankscore=0.210;MutationAssessor_pred=L;FATHMM_score=3.69;FATHMM_converted_rankscore=0.042;FATHMM_pred=T;PROVEAN_score=-2.14;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.09;VEST3_rankscore=0.269;MetaSVM_score=-0.889;MetaSVM_rankscore=0.491;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.066;CADD_raw_rankscore=0.100;CADD_phred=3.252;DANN_score=0.760;DANN_rankscore=0.109;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_rankscore=0.018;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.787;Eigen-PC-raw=-0.811;GenoCanyon_score=0.039;GenoCanyon_score_rankscore=0.144;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=0.685;phyloP100way_vertebrate_rankscore=0.249;phyloP20way_mammalian=1.059;phyloP20way_mammalian_rankscore=0.766;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=9.904;SiPhy_29way_logOdds_rankscore=0.403;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0321;ExAC_nontcga_AFR=0.0065;ExAC_nontcga_AMR=0.0146;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0422;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0342;ExAC_nontcga_SAS=0.0322;AF=0.0281;AF_popmax=0.0385;AF_male=0.0282;AF_female=0.0279;AF_raw=0.0281;AF_afr=0.0077;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0385;AF_fin=0.0440;AF_asj=0.0517;AF_oth=0.0285;non_topmed_AF_popmax=0.0367;non_neuro_AF_popmax=0.0373;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.031345;Kaviar_AC=4846;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228432323 rs12077365 T C 100 PASS AC=2;AF=0.0832668;AN=214;NS=2504;DP=17481;EAS_AF=0.1964;AMR_AF=0.0101;AFR_AF=0.1165;EUR_AF=0.004;SAS_AF=0.0552;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12077365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0409;AF_popmax=0.1983;AF_male=0.0431;AF_female=0.0382;AF_raw=0.0409;AF_afr=0.1002;AF_sas=.;AF_amr=0.0106;AF_eas=0.1983;AF_nfe=0.0034;AF_fin=0.0075;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.1980;non_neuro_AF_popmax=0.1983;non_cancer_AF_popmax=.;controls_AF_popmax=0.1958;Kaviar_AF=0.0052845;Kaviar_AC=817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228433171 rs189620214 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18072;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3539T:p.A1180V,OBSCN:NM_052843:exon12:c.C3539T:p.A1180V,OBSCN:NM_001271223:exon13:c.C3815T:p.A1272V;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189620214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.149;SIFT_converted_rankscore=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.836;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.153;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=B;LRT_score=0.060;LRT_converted_rankscore=0.223;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=-0.39;MutationAssessor_score_rankscore=0.030;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.113;VEST3_rankscore=0.203;MetaSVM_score=-0.997;MetaSVM_rankscore=0.307;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.306;M-CAP_pred=T;REVEL_score=0.084;REVEL_rankscore=0.250;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.182;CADD_raw_rankscore=0.111;CADD_phred=4.487;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.007;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.151;Eigen-PC-raw=-1.245;GenoCanyon_score=0.073;GenoCanyon_score_rankscore=0.156;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=0.052;GERP++_RS_rankscore=0.136;phyloP100way_vertebrate=-0.298;phyloP100way_vertebrate_rankscore=0.082;phyloP20way_mammalian=-0.644;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=6.447;SiPhy_29way_logOdds_rankscore=0.209;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228433217 rs2487384 A G 100 PASS AC=122;AF=0.616613;AN=214;NS=2504;DP=17687;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7095;EUR_AF=0.6412;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;1000g2015aug_all=0.616613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2487384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6825;ExAC_nontcga_ALL=0.6480;ExAC_nontcga_AFR=0.7069;ExAC_nontcga_AMR=0.6705;ExAC_nontcga_EAS=0.5828;ExAC_nontcga_FIN=0.7014;ExAC_nontcga_NFE=0.6808;ExAC_nontcga_OTH=0.6304;ExAC_nontcga_SAS=0.5036;AF=0.6880;AF_popmax=0.7034;AF_male=0.6859;AF_female=0.6905;AF_raw=0.6877;AF_afr=0.7034;AF_sas=.;AF_amr=0.6915;AF_eas=0.5445;AF_nfe=0.6899;AF_fin=0.7109;AF_asj=0.6241;AF_oth=0.6827;non_topmed_AF_popmax=0.7024;non_neuro_AF_popmax=0.7099;non_cancer_AF_popmax=.;controls_AF_popmax=0.7092;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228433346 rs75801409 C T 100 PASS AC=2;AF=0.0587061;AN=214;NS=2504;DP=19064;EAS_AF=0.1964;AMR_AF=0.0058;AFR_AF=0.028;EUR_AF=0.003;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3714T:p.C1238C,OBSCN:NM_052843:exon12:c.C3714T:p.C1238C,OBSCN:NM_001271223:exon13:c.C3990T:p.C1330C;1000g2015aug_all=0.0587061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75801409;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0279;ExAC_nontcga_AMR=0.0048;ExAC_nontcga_EAS=0.2184;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0218;ExAC_nontcga_SAS=0.0363;AF=0.0207;AF_popmax=0.1973;AF_male=0.0223;AF_female=0.0186;AF_raw=0.0207;AF_afr=0.0293;AF_sas=.;AF_amr=0.0071;AF_eas=0.1973;AF_nfe=0.0029;AF_fin=0.0069;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.1970;non_neuro_AF_popmax=0.1973;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0238936;Kaviar_AC=3694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228434395 rs7517088 T C 100 PASS AC=122;AF=0.617612;AN=214;NS=2504;DP=20385;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7133;EUR_AF=0.6412;SAS_AF=0.4571;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;1000g2015aug_all=0.617612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7517088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6833;ExAC_nontcga_ALL=0.6476;ExAC_nontcga_AFR=0.7081;ExAC_nontcga_AMR=0.6705;ExAC_nontcga_EAS=0.5812;ExAC_nontcga_FIN=0.7016;ExAC_nontcga_NFE=0.6809;ExAC_nontcga_OTH=0.6304;ExAC_nontcga_SAS=0.5010;AF=0.6879;AF_popmax=0.7037;AF_male=0.6859;AF_female=0.6904;AF_raw=0.6878;AF_afr=0.7037;AF_sas=.;AF_amr=0.6934;AF_eas=0.5451;AF_nfe=0.6896;AF_fin=0.7104;AF_asj=0.6241;AF_oth=0.6817;non_topmed_AF_popmax=0.7028;non_neuro_AF_popmax=0.7104;non_cancer_AF_popmax=.;controls_AF_popmax=0.7092;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228434467 rs7517108 T C 100 PASS AC=122;AF=0.66254;AN=214;NS=2504;DP=19733;EAS_AF=0.6151;AMR_AF=0.6902;AFR_AF=0.848;EUR_AF=0.6421;SAS_AF=0.4622;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;1000g2015aug_all=0.66254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7517108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6824;ExAC_nontcga_ALL=0.6675;ExAC_nontcga_AFR=0.8251;ExAC_nontcga_AMR=0.7425;ExAC_nontcga_EAS=0.5962;ExAC_nontcga_FIN=0.7009;ExAC_nontcga_NFE=0.6816;ExAC_nontcga_OTH=0.6337;ExAC_nontcga_SAS=0.5099;AF=0.7224;AF_popmax=0.8170;AF_male=0.7226;AF_female=0.7222;AF_raw=0.7222;AF_afr=0.8170;AF_sas=.;AF_amr=0.7388;AF_eas=0.5680;AF_nfe=0.6904;AF_fin=0.7105;AF_asj=0.6345;AF_oth=0.6893;non_topmed_AF_popmax=0.8165;non_neuro_AF_popmax=0.8253;non_cancer_AF_popmax=.;controls_AF_popmax=0.8230;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228437603 rs6426494 T C 100 PASS AC=122;AF=0.663738;AN=214;NS=2504;DP=21993;EAS_AF=0.6151;AMR_AF=0.6873;AFR_AF=0.854;EUR_AF=0.6412;SAS_AF=0.4632;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.663738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6426494;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7236;AF_popmax=0.8229;AF_male=0.7236;AF_female=0.7236;AF_raw=0.7233;AF_afr=0.8229;AF_sas=.;AF_amr=0.7370;AF_eas=0.5677;AF_nfe=0.6898;AF_fin=0.7108;AF_asj=0.6319;AF_oth=0.6860;non_topmed_AF_popmax=0.8225;non_neuro_AF_popmax=0.8332;non_cancer_AF_popmax=.;controls_AF_popmax=0.8294;Kaviar_AF=0.131396;Kaviar_AC=20314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228437772 rs12080655 G A 100 PASS AC=2;AF=0.0611022;AN=214;NS=2504;DP=16429;EAS_AF=0.1746;AMR_AF=0.0072;AFR_AF=0.0537;EUR_AF=0.003;SAS_AF=0.0521;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon14:c.G4140A:p.E1380E,OBSCN:NM_052843:exon14:c.G4140A:p.E1380E,OBSCN:NM_001271223:exon15:c.G4416A:p.E1472E;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12080655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0551;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0.1940;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0355;AF=0.0254;AF_popmax=0.1690;AF_male=0.0268;AF_female=0.0238;AF_raw=0.0255;AF_afr=0.0527;AF_sas=.;AF_amr=0.0035;AF_eas=0.1690;AF_nfe=0.0026;AF_fin=0.0072;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.1686;non_neuro_AF_popmax=0.1690;non_cancer_AF_popmax=.;controls_AF_popmax=0.1696;Kaviar_AF=0.0238613;Kaviar_AC=3689;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.088721;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228444297 rs7532141 T G 100 PASS AC=69;AF=0.159744;AN=214;NS=2504;DP=19474;EAS_AF=0.0575;AMR_AF=0.2651;AFR_AF=0.062;EUR_AF=0.3231;SAS_AF=0.1544;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2557;AF_popmax=0.3405;AF_male=0.2513;AF_female=0.2612;AF_raw=0.2560;AF_afr=0.1109;AF_sas=.;AF_amr=0.325;AF_eas=0.0610;AF_nfe=0.3405;AF_fin=0.2988;AF_asj=0.3138;AF_oth=0.2869;non_topmed_AF_popmax=0.3360;non_neuro_AF_popmax=0.3379;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0563317;Kaviar_AC=8709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.310662::0.249286;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 +1 228444318 rs7532144 T G 100 PASS AC=122;AF=0.617013;AN=214;NS=2504;DP=18843;EAS_AF=0.5992;AMR_AF=0.6513;AFR_AF=0.7133;EUR_AF=0.6402;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.617013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6821;ExAC_nontcga_ALL=0.6485;ExAC_nontcga_AFR=0.7092;ExAC_nontcga_AMR=0.6724;ExAC_nontcga_EAS=0.5836;ExAC_nontcga_FIN=0.7026;ExAC_nontcga_NFE=0.6815;ExAC_nontcga_OTH=0.6308;ExAC_nontcga_SAS=0.5020;AF=0.6876;AF_popmax=0.7033;AF_male=0.6855;AF_female=0.6902;AF_raw=0.6873;AF_afr=0.7033;AF_sas=.;AF_amr=0.6912;AF_eas=0.5460;AF_nfe=0.6893;AF_fin=0.7103;AF_asj=0.6215;AF_oth=0.6811;non_topmed_AF_popmax=0.7025;non_neuro_AF_popmax=0.7111;non_cancer_AF_popmax=.;controls_AF_popmax=0.7087;Kaviar_AF=0.635128;Kaviar_AC=98192;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228444419 rs576399603 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15193;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.C4377T:p.S1459S,OBSCN:NM_052843:exon15:c.C4377T:p.S1459S,OBSCN:NM_001271223:exon16:c.C4653T:p.S1551S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576399603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228444565 rs7532342 T A 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=16233;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.426;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-4.3;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_converted_rankscore=0.000;PROVEAN_pred=N;VEST3_score=0.268;VEST3_rankscore=0.355;MetaSVM_score=-0.939;MetaSVM_rankscore=0.429;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.168;REVEL_rankscore=0.434;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.030;CADD_raw_rankscore=0.096;CADD_phred=2.884;DANN_score=0.239;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.375;Eigen-PC-raw=-1.086;GenoCanyon_score=0.193;GenoCanyon_score_rankscore=0.180;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.6;GERP++_RS_rankscore=0.564;phyloP100way_vertebrate=6.737;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=0.200;phyloP20way_mammalian_rankscore=0.252;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=10.586;SiPhy_29way_logOdds_rankscore=0.443;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 228447463 rs147633098 G A 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=19895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147633098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.56;FATHMM_converted_rankscore=0.047;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.106;VEST3_rankscore=0.112;MetaSVM_score=-0.972;MetaSVM_rankscore=0.367;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.043;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.014;REVEL_rankscore=0.021;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.355;CADD_raw_rankscore=0.128;CADD_phred=6.217;DANN_score=0.813;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_rankscore=0.045;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.794;Eigen-PC-raw=-0.939;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.060;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=-2.54;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=-1.658;phyloP100way_vertebrate_rankscore=0.021;phyloP20way_mammalian=-0.473;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.061;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=12.965;SiPhy_29way_logOdds_rankscore=0.577;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0081;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0025;AF=0.0064;AF_popmax=0.0104;AF_male=0.0065;AF_female=0.0063;AF_raw=0.0065;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0049;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0078783;Kaviar_AC=1218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228447513 rs7525075 T G 100 PASS AC=71;AF=0.296925;AN=214;NS=2504;DP=19705;EAS_AF=0.1915;AMR_AF=0.3761;AFR_AF=0.3601;EUR_AF=0.3569;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7525075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3890;ExAC_nontcga_ALL=0.3543;ExAC_nontcga_AFR=0.3877;ExAC_nontcga_AMR=0.4565;ExAC_nontcga_EAS=0.1970;ExAC_nontcga_FIN=0.3414;ExAC_nontcga_NFE=0.3841;ExAC_nontcga_OTH=0.3434;ExAC_nontcga_SAS=0.2468;AF=0.3711;AF_popmax=0.4369;AF_male=0.3707;AF_female=0.3716;AF_raw=0.3733;AF_afr=0.3815;AF_sas=.;AF_amr=0.4369;AF_eas=0.1815;AF_nfe=0.3845;AF_fin=0.3620;AF_asj=0.3542;AF_oth=0.3515;non_topmed_AF_popmax=0.4339;non_neuro_AF_popmax=0.4487;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.346076;Kaviar_AC=53504;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228447519 rs7525078 T A 100 PASS AC=71;AF=0.296925;AN=214;NS=2504;DP=19639;EAS_AF=0.1915;AMR_AF=0.3761;AFR_AF=0.3601;EUR_AF=0.3569;SAS_AF=0.2025;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7525078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3890;ExAC_nontcga_ALL=0.3543;ExAC_nontcga_AFR=0.3875;ExAC_nontcga_AMR=0.4570;ExAC_nontcga_EAS=0.1970;ExAC_nontcga_FIN=0.3407;ExAC_nontcga_NFE=0.3838;ExAC_nontcga_OTH=0.3429;ExAC_nontcga_SAS=0.2465;AF=0.3711;AF_popmax=0.4354;AF_male=0.3708;AF_female=0.3715;AF_raw=0.3733;AF_afr=0.3819;AF_sas=.;AF_amr=0.4354;AF_eas=0.1813;AF_nfe=0.3846;AF_fin=0.3620;AF_asj=0.3542;AF_oth=0.3524;non_topmed_AF_popmax=0.4323;non_neuro_AF_popmax=0.4465;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.34519;Kaviar_AC=53367;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228451826 rs453140 C T 100 PASS AC=51;AF=0.30631;AN=214;NS=2504;DP=18890;EAS_AF=0.4226;AMR_AF=0.2983;AFR_AF=0.2761;EUR_AF=0.2823;SAS_AF=0.2577;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;1000g2015aug_all=0.30631;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs453140;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.342;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_converted_rankscore=0.058;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.3;MutationAssessor_score_rankscore=0.036;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=0.78;PROVEAN_converted_rankscore=0.019;PROVEAN_pred=N;VEST3_score=0.006;VEST3_rankscore=0.004;MetaSVM_score=-0.942;MetaSVM_rankscore=0.423;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.006;REVEL_rankscore=0.004;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.352;CADD_raw_rankscore=0.128;CADD_phred=6.186;DANN_score=0.718;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.046;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.496;Eigen-PC-raw=-1.475;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.111;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-1.6;GERP++_RS_rankscore=0.079;phyloP100way_vertebrate=-1.916;phyloP100way_vertebrate_rankscore=0.017;phyloP20way_mammalian=-0.767;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=6.177;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2810;ExAC_nontcga_ALL=0.2954;ExAC_nontcga_AFR=0.2523;ExAC_nontcga_AMR=0.2741;ExAC_nontcga_EAS=0.4032;ExAC_nontcga_FIN=0.3589;ExAC_nontcga_NFE=0.2937;ExAC_nontcga_OTH=0.2928;ExAC_nontcga_SAS=0.2606;AF=0.2973;AF_popmax=0.3825;AF_male=0.2955;AF_female=0.2995;AF_raw=0.2971;AF_afr=0.2573;AF_sas=.;AF_amr=0.2771;AF_eas=0.3825;AF_nfe=0.2998;AF_fin=0.3474;AF_asj=0.2552;AF_oth=0.3247;non_topmed_AF_popmax=0.3809;non_neuro_AF_popmax=0.3825;non_cancer_AF_popmax=.;controls_AF_popmax=0.3723;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +1 228451941 rs142188902 C T 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=19514;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0099;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4710T:p.D1570D,OBSCN:NM_052843:exon16:c.C4710T:p.D1570D,OBSCN:NM_001271223:exon18:c.C5262T:p.D1754D;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142188902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0098;AF=0.0046;AF_popmax=0.0053;AF_male=0.0045;AF_female=0.0048;AF_raw=0.0046;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0086;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0054527;Kaviar_AC=843;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.455630;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228452016 rs185523702 G C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=18329;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4785C:p.E1595D,OBSCN:NM_052843:exon16:c.G4785C:p.E1595D,OBSCN:NM_001271223:exon18:c.G5337C:p.E1779D;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185523702;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.233;SIFT_converted_rankscore=0.181;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.303;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.029;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_converted_rankscore=0.284;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.41;MutationAssessor_score_rankscore=0.029;MutationAssessor_pred=N;FATHMM_score=3.65;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_converted_rankscore=0.354;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.030;MetaSVM_score=-0.858;MetaSVM_rankscore=0.514;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.015;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.319;CADD_raw_rankscore=0.021;CADD_phred=0.004;DANN_score=0.736;DANN_rankscore=0.101;fathmm-MKL_coding_score=0.390;fathmm-MKL_coding_rankscore=0.259;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.214;Eigen-PC-raw=-1.112;GenoCanyon_score=0.150;GenoCanyon_score_rankscore=0.174;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=-0.246;phyloP100way_vertebrate_rankscore=0.088;phyloP20way_mammalian=0.131;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.630;phastCons20way_mammalian_rankscore=0.294;SiPhy_29way_logOdds=13.174;SiPhy_29way_logOdds_rankscore=0.589;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15;GTEx_V6p_tissue=Esophagus_Mucosa;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0190;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0049;AF=0.0142;AF_popmax=0.0184;AF_male=0.0143;AF_female=0.0140;AF_raw=0.0142;AF_afr=0.0044;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0262;AF_asj=0;AF_oth=0.0193;non_topmed_AF_popmax=0.0191;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0228;Kaviar_AF=0.0134345;Kaviar_AC=2077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228452032 rs55706639 G A 100 PASS AC=2;AF=0.0571086;AN=214;NS=2504;DP=17405;EAS_AF=0.1935;AMR_AF=0.0043;AFR_AF=0.0234;EUR_AF=0.005;SAS_AF=0.0532;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4801A:p.A1601T,OBSCN:NM_052843:exon16:c.G4801A:p.A1601T,OBSCN:NM_001271223:exon18:c.G5353A:p.A1785T;1000g2015aug_all=0.0571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55706639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.099;SIFT_converted_rankscore=0.410;SIFT_pred=T;Polyphen2_HDIV_score=0.942;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.74;Polyphen2_HVAR_rankscore=0.559;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=0.487;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=2.155;MutationAssessor_score_rankscore=0.604;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_converted_rankscore=0.534;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.256;MetaSVM_score=-0.994;MetaSVM_rankscore=0.317;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.204;REVEL_rankscore=0.496;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.095;CADD_raw_rankscore=0.432;CADD_phred=22.5;DANN_score=0.971;DANN_rankscore=0.319;fathmm-MKL_coding_score=0.063;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.379;Eigen-PC-raw=-0.568;GenoCanyon_score=0.920;GenoCanyon_score_rankscore=0.266;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.75;GERP++_RS_rankscore=0.313;phyloP100way_vertebrate=0.948;phyloP100way_vertebrate_rankscore=0.285;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=8.895;SiPhy_29way_logOdds_rankscore=0.344;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0275;ExAC_nontcga_AFR=0.0250;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.2226;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0368;AF=0.0192;AF_popmax=0.1972;AF_male=0.0206;AF_female=0.0173;AF_raw=0.0193;AF_afr=0.0240;AF_sas=.;AF_amr=0.0024;AF_eas=0.1972;AF_nfe=0.0032;AF_fin=0.0078;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.1955;non_neuro_AF_popmax=0.1972;non_cancer_AF_popmax=.;controls_AF_popmax=0.1963;Kaviar_AF=0.0242106;Kaviar_AC=3743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456294 rs535628776 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13526;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.C4925G:p.A1642G,OBSCN:NM_052843:exon17:c.C4925G:p.A1642G,OBSCN:NM_001271223:exon19:c.C5477G:p.A1826G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535628776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.871;SIFT_converted_rankscore=0.049;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=B;LRT_score=0.827;LRT_converted_rankscore=0.069;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.075;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.049;VEST3_rankscore=0.056;MetaSVM_score=-0.781;MetaSVM_rankscore=0.563;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.057;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.612;M-CAP_pred=D;REVEL_score=0.044;REVEL_rankscore=0.123;MutPred_score=0.426;MutPred_rankscore=0.472;CADD_raw=2.128;CADD_raw_rankscore=0.317;CADD_phred=17.04;DANN_score=0.969;DANN_rankscore=0.309;fathmm-MKL_coding_score=0.398;fathmm-MKL_coding_rankscore=0.261;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.708;Eigen-PC-raw=-0.636;GenoCanyon_score=0.978;GenoCanyon_score_rankscore=0.298;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.483;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=0.006;phyloP100way_vertebrate_rankscore=0.129;phyloP20way_mammalian=-0.001;phyloP20way_mammalian_rankscore=0.135;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.143;phastCons20way_mammalian_rankscore=0.203;SiPhy_29way_logOdds=7.724;SiPhy_29way_logOdds_rankscore=0.277;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=1.918e-05;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456295 rs555320788 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=12762;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.C4926G:p.A1642A,OBSCN:NM_052843:exon17:c.C4926G:p.A1642A,OBSCN:NM_001271223:exon19:c.C5478G:p.A1826A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555320788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.808e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456296 rs569092903 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=12667;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.A4927G:p.S1643G,OBSCN:NM_052843:exon17:c.A4927G:p.S1643G,OBSCN:NM_001271223:exon19:c.A5479G:p.S1827G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569092903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.102;SIFT_converted_rankscore=0.512;SIFT_pred=T;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_rankscore=0.577;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.897;Polyphen2_HVAR_rankscore=0.650;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.369;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_score_rankscore=0.853;MutationAssessor_pred=M;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.700;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.449;MetaSVM_score=0.013;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.502;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.124;M-CAP_rankscore=0.806;M-CAP_pred=D;REVEL_score=0.385;REVEL_rankscore=0.705;MutPred_score=0.461;MutPred_rankscore=0.530;CADD_raw=3.369;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.992;DANN_rankscore=0.544;fathmm-MKL_coding_score=0.612;fathmm-MKL_coding_rankscore=0.311;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.318;Eigen-PC-raw=0.198;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.483;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=4.953;phyloP100way_vertebrate_rankscore=0.631;phyloP20way_mammalian=1.119;phyloP20way_mammalian_rankscore=0.881;phastCons100way_vertebrate=0.459;phastCons100way_vertebrate_rankscore=0.264;phastCons20way_mammalian=0.222;phastCons20way_mammalian_rankscore=0.222;SiPhy_29way_logOdds=14.797;SiPhy_29way_logOdds_rankscore=0.694;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.729e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=6.407e-05;AF_popmax=0.0001;AF_male=5.756e-05;AF_female=7.223e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461097 rs116320185 C G 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=19209;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.C6111G:p.D2037E;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116320185;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.3;FATHMM_converted_rankscore=0.064;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.205;VEST3_rankscore=0.570;MetaSVM_score=-0.850;MetaSVM_rankscore=0.520;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.102;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.456;M-CAP_pred=T;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.035;CADD_raw_rankscore=0.193;CADD_phred=10.86;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.082;fathmm-MKL_coding_rankscore=0.140;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.510;Eigen-PC-raw=-1.752;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-9.04;GERP++_RS_rankscore=0.006;phyloP100way_vertebrate=-3.361;phyloP100way_vertebrate_rankscore=0.005;phyloP20way_mammalian=-1.280;phyloP20way_mammalian_rankscore=0.014;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=18.945;SiPhy_29way_logOdds_rankscore=0.926;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0044;ExAC_nontcga_NFE=0.0081;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0055;AF_popmax=0.0097;AF_male=0.0053;AF_female=0.0057;AF_raw=0.0055;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0097;AF_fin=0.0029;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0117;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0049999;Kaviar_AC=773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.432207;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461129 rs1188724 A G 100 PASS AC=125;AF=0.69349;AN=214;NS=2504;DP=19047;EAS_AF=0.75;AMR_AF=0.6974;AFR_AF=0.8442;EUR_AF=0.663;SAS_AF=0.4601;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;1000g2015aug_all=0.69349;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188724;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.018;VEST3_rankscore=0.003;MetaSVM_score=-1.004;MetaSVM_rankscore=0.287;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.541;CADD_raw_rankscore=0.053;CADD_phred=0.174;DANN_score=0.112;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.073;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.436;Eigen-PC-raw=-1.570;GenoCanyon_score=0.757;GenoCanyon_score_rankscore=0.234;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-1.1;GERP++_RS_rankscore=0.093;phyloP100way_vertebrate=-1.645;phyloP100way_vertebrate_rankscore=0.021;phyloP20way_mammalian=-1.962;phyloP20way_mammalian_rankscore=0.005;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=11.816;SiPhy_29way_logOdds_rankscore=0.513;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6953;ExAC_nontcga_ALL=0.6896;ExAC_nontcga_AFR=0.8168;ExAC_nontcga_AMR=0.7438;ExAC_nontcga_EAS=0.7261;ExAC_nontcga_FIN=0.7517;ExAC_nontcga_NFE=0.6992;ExAC_nontcga_OTH=0.6464;ExAC_nontcga_SAS=0.5148;AF=0.7419;AF_popmax=0.8086;AF_male=0.7415;AF_female=0.7424;AF_raw=0.7418;AF_afr=0.8086;AF_sas=.;AF_amr=0.7447;AF_eas=0.7005;AF_nfe=0.7084;AF_fin=0.7573;AF_asj=0.6517;AF_oth=0.7155;non_topmed_AF_popmax=0.8081;non_neuro_AF_popmax=0.8203;non_cancer_AF_popmax=.;controls_AF_popmax=0.8148;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228461187 rs185495392 T C 100 PASS AC=4;AF=0.00958466;AN=214;NS=2504;DP=17520;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.T6201C:p.D2067D;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185495392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0250;ExAC_nontcga_ALL=0.0162;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0228;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0135;AF=0.0143;AF_popmax=0.0201;AF_male=0.0138;AF_female=0.0149;AF_raw=0.0143;AF_afr=0.0044;AF_sas=.;AF_amr=0.0106;AF_eas=0.0006;AF_nfe=0.0201;AF_fin=0.0155;AF_asj=0.0621;AF_oth=0.0175;non_topmed_AF_popmax=0.0190;non_neuro_AF_popmax=0.0202;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0164875;Kaviar_AC=2549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461408 rs11398292 A AGGG 100 PASS AC=214;AF=0.999201;AN=214;NS=2504;DP=18069;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.9977;EUR_AF=1;SAS_AF=1;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.999201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.032367;Kaviar_AC=5004;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 228461504 rs200483572 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17321;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon18:c.G5171A:p.R1724H,OBSCN:NM_052843:exon18:c.G5171A:p.R1724H,OBSCN:NM_001271223:exon22:c.G6296A:p.R2099H;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200483572;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.201;SIFT_converted_rankscore=0.203;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.895;Polyphen2_HVAR_rankscore=0.617;Polyphen2_HVAR_pred=P;LRT_score=0.461;LRT_converted_rankscore=0.049;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.223;MutationTaster_pred=N;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=0.4;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.146;MetaSVM_score=-0.832;MetaSVM_rankscore=0.532;MetaSVM_pred=T;MetaLR_score=0.289;MetaLR_rankscore=0.661;MetaLR_pred=T;M-CAP_score=0.094;M-CAP_rankscore=0.763;M-CAP_pred=D;REVEL_score=0.113;REVEL_rankscore=0.323;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.409;CADD_raw_rankscore=0.133;CADD_phred=6.694;DANN_score=0.992;DANN_rankscore=0.562;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.139;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.450;Eigen-PC-raw=-0.621;GenoCanyon_score=0.961;GenoCanyon_score_rankscore=0.285;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.573;integrated_confidence_value=0;GERP++_RS=-0.233;GERP++_RS_rankscore=0.124;phyloP100way_vertebrate=-0.055;phyloP100way_vertebrate_rankscore=0.117;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.036;phastCons100way_vertebrate_rankscore=0.206;phastCons20way_mammalian=0.190;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=5.958;SiPhy_29way_logOdds_rankscore=0.184;Interpro_domain=Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0008;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.629023;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461757 rs474735 G A 100 PASS AC=33;AF=0.206669;AN=214;NS=2504;DP=15985;EAS_AF=0.1538;AMR_AF=0.2536;AFR_AF=0.3207;EUR_AF=0.164;SAS_AF=0.1176;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.206669;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs474735;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.1774;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.3339;ExAC_nontcga_AMR=0.3290;ExAC_nontcga_EAS=0.1543;ExAC_nontcga_FIN=0.1651;ExAC_nontcga_NFE=0.1905;ExAC_nontcga_OTH=0.1910;ExAC_nontcga_SAS=0.1357;AF=0.2156;AF_popmax=0.3144;AF_male=0.2162;AF_female=0.2150;AF_raw=0.2157;AF_afr=0.3144;AF_sas=.;AF_amr=0.3019;AF_eas=0.1354;AF_nfe=0.1770;AF_fin=0.1642;AF_asj=0.2069;AF_oth=0.1873;non_topmed_AF_popmax=0.3137;non_neuro_AF_popmax=0.3213;non_cancer_AF_popmax=.;controls_AF_popmax=0.3215;Kaviar_AF=0.184163;Kaviar_AC=28472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228462520 rs138680175 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18878;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon20:c.C5931T:p.S1977S,OBSCN:NM_052843:exon20:c.C5931T:p.S1977S,OBSCN:NM_001271223:exon24:c.C7056T:p.S2352S;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138680175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0.0046;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228462570 rs35509584 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18335;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35509584;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0101;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0031;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0028;ExAC_nontcga_SAS=0;AF=0.0049;AF_popmax=0.0077;AF_male=0.0054;AF_female=0.0043;AF_raw=0.0049;AF_afr=0.0030;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0009;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463425 rs576206994 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=10971;EAS_AF=0.004;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.002;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576206994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463433 rs510931 C T 100 PASS AC=47;AF=0.258786;AN=214;NS=2504;DP=11350;EAS_AF=0.2321;AMR_AF=0.2997;AFR_AF=0.289;EUR_AF=0.2783;SAS_AF=0.1963;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.258786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs510931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2507;ExAC_nontcga_ALL=0.3087;ExAC_nontcga_AFR=0.3514;ExAC_nontcga_AMR=0.3565;ExAC_nontcga_EAS=0.2660;ExAC_nontcga_FIN=0.5;ExAC_nontcga_NFE=0.3481;ExAC_nontcga_OTH=0.2955;ExAC_nontcga_SAS=0.2834;AF=0.2853;AF_popmax=0.2970;AF_male=0.2819;AF_female=0.2895;AF_raw=0.2850;AF_afr=0.2581;AF_sas=.;AF_amr=0.2790;AF_eas=0.1849;AF_nfe=0.2970;AF_fin=0.3403;AF_asj=0.2483;AF_oth=0.3204;non_topmed_AF_popmax=0.3016;non_neuro_AF_popmax=0.2979;non_cancer_AF_popmax=.;controls_AF_popmax=0.3171;Kaviar_AF=0.129487;Kaviar_AC=20019;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +1 228463763 rs556206550 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10114;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556206550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1135426|N/A|ZNF263|JASPAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1840839|N/A|RB1|PAZAR,OREG1850441|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463774 rs143720914 G T 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=10123;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143720914;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0048;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.01;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0003;AF=0.0048;AF_popmax=0.0067;AF_male=0.0044;AF_female=0.0053;AF_raw=0.0048;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0058;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0021474;Kaviar_AC=332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1840839|N/A|RB1|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1135426|N/A|ZNF263|JASPAR,OREG1850441|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464100 rs936884 G A 100 PASS AC=33;AF=0.207069;AN=214;NS=2504;DP=11254;EAS_AF=0.1548;AMR_AF=0.2536;AFR_AF=0.3222;EUR_AF=0.164;SAS_AF=0.1166;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207069;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2152;AF_popmax=0.3137;AF_male=0.2158;AF_female=0.2144;AF_raw=0.2156;AF_afr=0.3137;AF_sas=.;AF_amr=0.3031;AF_eas=0.1345;AF_nfe=0.1768;AF_fin=0.1646;AF_asj=0.2014;AF_oth=0.1851;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3205;non_cancer_AF_popmax=.;controls_AF_popmax=0.3212;Kaviar_AF=0.035116;Kaviar_AC=5429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228464141 rs538290410 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12437;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538290410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7406;dbscSNV_RF_SCORE=0.61;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.006e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.936e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464248 rs1188721 T G 100 PASS AC=125;AF=0.695487;AN=214;NS=2504;DP=13144;EAS_AF=0.75;AMR_AF=0.7003;AFR_AF=0.8495;EUR_AF=0.664;SAS_AF=0.4601;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;1000g2015aug_all=0.695487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=1.56;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.005;VEST3_rankscore=0.026;MetaSVM_score=-1.037;MetaSVM_rankscore=0.182;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.246;REVEL_rankscore=0.558;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.460;CADD_raw_rankscore=0.058;CADD_phred=0.276;DANN_score=0.574;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_rankscore=0.124;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.404;Eigen-PC-raw=-1.256;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=-0.623;GERP++_RS_rankscore=0.109;phyloP100way_vertebrate=-0.133;phyloP100way_vertebrate_rankscore=0.103;phyloP20way_mammalian=-0.337;phyloP20way_mammalian_rankscore=0.073;phastCons100way_vertebrate=0.383;phastCons100way_vertebrate_rankscore=0.258;phastCons20way_mammalian=0.548;phastCons20way_mammalian_rankscore=0.279;SiPhy_29way_logOdds=7.276;SiPhy_29way_logOdds_rankscore=0.253;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6965;ExAC_nontcga_ALL=0.6919;ExAC_nontcga_AFR=0.8227;ExAC_nontcga_AMR=0.7467;ExAC_nontcga_EAS=0.7257;ExAC_nontcga_FIN=0.7555;ExAC_nontcga_NFE=0.7018;ExAC_nontcga_OTH=0.6592;ExAC_nontcga_SAS=0.5168;AF=0.7443;AF_popmax=0.8127;AF_male=0.7439;AF_female=0.7449;AF_raw=0.7434;AF_afr=0.8127;AF_sas=.;AF_amr=0.7459;AF_eas=0.7023;AF_nfe=0.7106;AF_fin=0.7576;AF_asj=0.6517;AF_oth=0.7169;non_topmed_AF_popmax=0.8124;non_neuro_AF_popmax=0.8256;non_cancer_AF_popmax=.;controls_AF_popmax=0.8204;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.060850;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464255 rs62621832 T C 100 PASS AC=3;AF=0.00259585;AN=214;NS=2504;DP=13543;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.565;MutationAssessor_score_rankscore=0.936;MutationAssessor_pred=H;FATHMM_score=2.1;FATHMM_converted_rankscore=0.200;FATHMM_pred=T;PROVEAN_score=-11.01;PROVEAN_converted_rankscore=0.993;PROVEAN_pred=D;VEST3_score=0.279;VEST3_rankscore=0.675;MetaSVM_score=-0.729;MetaSVM_rankscore=0.591;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.378;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.467;REVEL_rankscore=0.765;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.777;CADD_raw_rankscore=0.641;CADD_phred=24.7;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.743;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.710;Eigen-PC-raw=0.591;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=7.872;phyloP100way_vertebrate_rankscore=0.854;phyloP20way_mammalian=0.950;phyloP20way_mammalian_rankscore=0.538;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.581;phastCons20way_mammalian_rankscore=0.285;SiPhy_29way_logOdds=14.955;SiPhy_29way_logOdds_rankscore=0.706;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0061;ExAC_nontcga_SAS=0.0009;AF=0.0070;AF_popmax=0.0101;AF_male=0.0068;AF_female=0.0072;AF_raw=0.0070;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0069;AF_asj=0.0310;AF_oth=0.0101;non_topmed_AF_popmax=0.0096;non_neuro_AF_popmax=0.01;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.0068498;Kaviar_AC=1059;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464276 rs1188722 T C 100 PASS AC=125;AF=0.663538;AN=214;NS=2504;DP=14563;EAS_AF=0.75;AMR_AF=0.6931;AFR_AF=0.733;EUR_AF=0.663;SAS_AF=0.4601;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;1000g2015aug_all=0.663538;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188722;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.391;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-3.01;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_converted_rankscore=0.033;FATHMM_pred=T;PROVEAN_score=2.44;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.126;MetaSVM_score=-0.984;MetaSVM_rankscore=0.341;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.742;CADD_raw_rankscore=0.043;CADD_phred=0.058;DANN_score=0.573;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.529;Eigen-PC-raw=-1.269;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=1.606;phyloP100way_vertebrate_rankscore=0.362;phyloP20way_mammalian=-0.454;phyloP20way_mammalian_rankscore=0.056;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=11.771;SiPhy_29way_logOdds_rankscore=0.510;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6960;ExAC_nontcga_ALL=0.6830;ExAC_nontcga_AFR=0.7224;ExAC_nontcga_AMR=0.7415;ExAC_nontcga_EAS=0.7269;ExAC_nontcga_FIN=0.7553;ExAC_nontcga_NFE=0.7011;ExAC_nontcga_OTH=0.6575;ExAC_nontcga_SAS=0.5183;AF=0.7163;AF_popmax=0.7364;AF_male=0.7141;AF_female=0.7191;AF_raw=0.7157;AF_afr=0.7141;AF_sas=.;AF_amr=0.7364;AF_eas=0.7016;AF_nfe=0.7101;AF_fin=0.7576;AF_asj=0.6414;AF_oth=0.7151;non_topmed_AF_popmax=0.7376;non_neuro_AF_popmax=0.7221;non_cancer_AF_popmax=.;controls_AF_popmax=0.7352;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464303 rs75280352 G T 100 PASS AC=1;AF=0.00459265;AN=214;NS=2504;DP=15176;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6373T:p.A2125S,OBSCN:NM_052843:exon22:c.G6373T:p.A2125S,OBSCN:NM_001271223:exon26:c.G7498T:p.A2500S;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75280352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.816;SIFT_converted_rankscore=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.844;Polyphen2_HDIV_rankscore=0.447;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.292;Polyphen2_HVAR_rankscore=0.390;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_converted_rankscore=0.260;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.197;MutationTaster_pred=N;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=3.67;FATHMM_converted_rankscore=0.042;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.074;MetaSVM_score=-0.959;MetaSVM_rankscore=0.394;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.008;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.771;CADD_raw_rankscore=0.274;CADD_phred=14.82;DANN_score=0.968;DANN_rankscore=0.306;fathmm-MKL_coding_score=0.218;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.730;Eigen-PC-raw=-0.760;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=1.86;GERP++_RS_rankscore=0.244;phyloP100way_vertebrate=0.737;phyloP100way_vertebrate_rankscore=0.256;phyloP20way_mammalian=0.943;phyloP20way_mammalian_rankscore=0.531;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.012;phastCons20way_mammalian_rankscore=0.117;SiPhy_29way_logOdds=4.583;SiPhy_29way_logOdds_rankscore=0.116;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15;GTEx_V6p_tissue=Esophagus_Mucosa;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0278;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0381;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0264;ExAC_nontcga_SAS=0.0072;AF=0.0198;AF_popmax=0.0268;AF_male=0.0196;AF_female=0.0199;AF_raw=0.0199;AF_afr=0.0055;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0268;AF_fin=0.0332;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.0278;non_neuro_AF_popmax=0.0270;non_cancer_AF_popmax=.;controls_AF_popmax=0.0336;Kaviar_AF=0.0173413;Kaviar_AC=2681;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464385 rs528584984 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13920;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6455A:p.G2152E,OBSCN:NM_052843:exon22:c.G6455A:p.G2152E,OBSCN:NM_001271223:exon26:c.G7580A:p.G2527E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528584984;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.173;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.895;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.745;MutationAssessor_score_rankscore=0.454;MutationAssessor_pred=L;FATHMM_score=3.65;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-5.56;PROVEAN_converted_rankscore=0.863;PROVEAN_pred=D;VEST3_score=0.545;VEST3_rankscore=0.742;MetaSVM_score=-1.168;MetaSVM_rankscore=0.006;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_rankscore=0.225;MetaLR_pred=T;M-CAP_score=0.258;M-CAP_rankscore=0.894;M-CAP_pred=D;REVEL_score=0.225;REVEL_rankscore=0.528;MutPred_score=0.672;MutPred_rankscore=0.810;CADD_raw=3.941;CADD_raw_rankscore=0.531;CADD_phred=23.5;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.517;Eigen-PC-raw=0.444;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=5.23;GERP++_RS_rankscore=0.725;phyloP100way_vertebrate=6.323;phyloP100way_vertebrate_rankscore=0.727;phyloP20way_mammalian=0.873;phyloP20way_mammalian_rankscore=0.381;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.148;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=18.793;SiPhy_29way_logOdds_rankscore=0.919;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.239e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.08e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.630039;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464440 rs374370725 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374370725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0012;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0026;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464759 rs147931446 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147931446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464842 rs936885 C G 100 PASS AC=124;AF=0.69369;AN=214;NS=2504;DP=15999;EAS_AF=0.749;AMR_AF=0.7017;AFR_AF=0.8487;EUR_AF=0.659;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.69369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6953;ExAC_nontcga_ALL=0.6874;ExAC_nontcga_AFR=0.8370;ExAC_nontcga_AMR=0.7572;ExAC_nontcga_EAS=0.7412;ExAC_nontcga_FIN=0.7694;ExAC_nontcga_NFE=0.7177;ExAC_nontcga_OTH=0.6870;ExAC_nontcga_SAS=0.5333;AF=0.7409;AF_popmax=0.8133;AF_male=0.7411;AF_female=0.7405;AF_raw=0.7407;AF_afr=0.8133;AF_sas=.;AF_amr=0.7470;AF_eas=0.7009;AF_nfe=0.7040;AF_fin=0.7552;AF_asj=0.6528;AF_oth=0.7142;non_topmed_AF_popmax=0.8129;non_neuro_AF_popmax=0.8262;non_cancer_AF_popmax=.;controls_AF_popmax=0.8213;Kaviar_AF=0.594837;Kaviar_AC=91963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464899 rs185428240 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16834;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon24:c.C6639T:p.I2213I,OBSCN:NM_052843:exon24:c.C6639T:p.I2213I,OBSCN:NM_001271223:exon28:c.C7764T:p.I2588I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185428240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.964e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464937 rs370102778 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18475;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon24:c.G6677A:p.R2226Q,OBSCN:NM_052843:exon24:c.G6677A:p.R2226Q,OBSCN:NM_001271223:exon28:c.G7802A:p.R2601Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370102778;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.574;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.852;Polyphen2_HDIV_rankscore=0.592;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.208;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.183;LRT_converted_rankscore=0.170;LRT_pred=N;MutationTaster_score=0.935;MutationTaster_converted_rankscore=0.371;MutationTaster_pred=D;MutationAssessor_score=0.74;MutationAssessor_score_rankscore=0.190;MutationAssessor_pred=N;FATHMM_score=3.55;FATHMM_converted_rankscore=0.048;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.474;MetaSVM_score=-0.753;MetaSVM_rankscore=0.578;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.030;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.499;M-CAP_pred=D;REVEL_score=0.170;REVEL_rankscore=0.438;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.694;CADD_raw_rankscore=0.160;CADD_phred=8.790;DANN_score=0.984;DANN_rankscore=0.410;fathmm-MKL_coding_score=0.292;fathmm-MKL_coding_rankscore=0.235;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.427;Eigen-PC-raw=-0.484;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=0.455;GERP++_RS_rankscore=0.158;phyloP100way_vertebrate=3.416;phyloP100way_vertebrate_rankscore=0.522;phyloP20way_mammalian=0.883;phyloP20way_mammalian_rankscore=0.387;phastCons100way_vertebrate=0.648;phastCons100way_vertebrate_rankscore=0.279;phastCons20way_mammalian=0.279;phastCons20way_mammalian_rankscore=0.233;SiPhy_29way_logOdds=3.546;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.621e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.789e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228465346 rs493945 A G 100 PASS AC=74;AF=0.330072;AN=214;NS=2504;DP=15447;EAS_AF=0.378;AMR_AF=0.3617;AFR_AF=0.3585;EUR_AF=0.3638;SAS_AF=0.1851;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon29:c.A8020G:p.N2674D;1000g2015aug_all=0.330072;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs493945;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1e-37;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.071;VEST3_rankscore=0.117;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.591;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.990;DANN_rankscore=0.498;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.930;Eigen-PC-raw=2.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=5.732;phyloP100way_vertebrate_rankscore=0.680;phyloP20way_mammalian=1.007;phyloP20way_mammalian_rankscore=0.626;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.958;phastCons20way_mammalian_rankscore=0.437;SiPhy_29way_logOdds=13.940;SiPhy_29way_logOdds_rankscore=0.634;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162910.14|ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4617;ExAC_nontcga_AFR=0.4949;ExAC_nontcga_AMR=0.5593;ExAC_nontcga_EAS=0.5432;ExAC_nontcga_FIN=0.5455;ExAC_nontcga_NFE=0.5264;ExAC_nontcga_OTH=0.4764;ExAC_nontcga_SAS=0.2763;AF=0.3812;AF_popmax=0.4163;AF_male=0.3823;AF_female=0.3798;AF_raw=0.3811;AF_afr=0.3749;AF_sas=.;AF_amr=0.4163;AF_eas=0.3964;AF_nfe=0.3808;AF_fin=0.3916;AF_asj=0.3690;AF_oth=0.3582;non_topmed_AF_popmax=0.4123;non_neuro_AF_popmax=0.4278;non_cancer_AF_popmax=.;controls_AF_popmax=0.4092;Kaviar_AF=0.303961;Kaviar_AC=46993;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.173877;ALLELE_END GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228465370 rs867599 T G 100 PASS AC=128;AF=0.669529;AN=214;NS=2504;DP=14665;EAS_AF=0.744;AMR_AF=0.6988;AFR_AF=0.7542;EUR_AF=0.67;SAS_AF=0.4571;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.669529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs867599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7207;ExAC_nontcga_AFR=0.7671;ExAC_nontcga_AMR=0.7802;ExAC_nontcga_EAS=0.7869;ExAC_nontcga_FIN=0.8019;ExAC_nontcga_NFE=0.7387;ExAC_nontcga_OTH=0.7082;ExAC_nontcga_SAS=0.5537;AF=0.7292;AF_popmax=0.7378;AF_male=0.7261;AF_female=0.7332;AF_raw=0.7289;AF_afr=0.7373;AF_sas=.;AF_amr=0.7370;AF_eas=0.7378;AF_nfe=0.7128;AF_fin=0.7880;AF_asj=0.6345;AF_oth=0.7169;non_topmed_AF_popmax=0.7395;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7377;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.973539;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.669529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs867599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7207;ExAC_nontcga_AFR=0.7671;ExAC_nontcga_AMR=0.7802;ExAC_nontcga_EAS=0.7869;ExAC_nontcga_FIN=0.8019;ExAC_nontcga_NFE=0.7387;ExAC_nontcga_OTH=0.7082;ExAC_nontcga_SAS=0.5537;AF=0.7292;AF_popmax=0.7378;AF_male=0.7261;AF_female=0.7332;AF_raw=0.7289;AF_afr=0.7373;AF_sas=.;AF_amr=0.7370;AF_eas=0.7378;AF_nfe=0.7128;AF_fin=0.7880;AF_asj=0.6345;AF_oth=0.7169;non_topmed_AF_popmax=0.7395;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7377;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.973539;ALLELE_END GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 +1 228465403 rs13376694 G T 100 PASS AC=11;AF=0.102835;AN=214;NS=2504;DP=12724;EAS_AF=0.3413;AMR_AF=0.0231;AFR_AF=0.0257;EUR_AF=0.0507;SAS_AF=0.0716;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13376694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.0410;ExAC_nontcga_AMR=0.0213;ExAC_nontcga_EAS=0.4090;ExAC_nontcga_FIN=0.1118;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0758;ExAC_nontcga_SAS=0.0719;AF=0.0723;AF_popmax=0.3772;AF_male=0.0737;AF_female=0.0706;AF_raw=0.0725;AF_afr=0.0342;AF_sas=.;AF_amr=0.0354;AF_eas=0.3772;AF_nfe=0.0606;AF_fin=0.0959;AF_asj=0.0517;AF_oth=0.0663;non_topmed_AF_popmax=0.3735;non_neuro_AF_popmax=0.3772;non_cancer_AF_popmax=.;controls_AF_popmax=0.3818;Kaviar_AF=0.0737959;Kaviar_AC=11409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13376694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.0410;ExAC_nontcga_AMR=0.0213;ExAC_nontcga_EAS=0.4090;ExAC_nontcga_FIN=0.1118;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0758;ExAC_nontcga_SAS=0.0719;AF=0.0723;AF_popmax=0.3772;AF_male=0.0737;AF_female=0.0706;AF_raw=0.0725;AF_afr=0.0342;AF_sas=.;AF_amr=0.0354;AF_eas=0.3772;AF_nfe=0.0606;AF_fin=0.0959;AF_asj=0.0517;AF_oth=0.0663;non_topmed_AF_popmax=0.3735;non_neuro_AF_popmax=0.3772;non_cancer_AF_popmax=.;controls_AF_popmax=0.3818;Kaviar_AF=0.0737959;Kaviar_AC=11409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228465426 rs181566858 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13394;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181566858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181566858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466819 rs115119380 C T 100 PASS AC=11;AF=0.0167732;AN=214;NS=2504;DP=17582;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0437;SAS_AF=0.0286;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0167732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115119380;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0276;AF_popmax=0.0378;AF_male=0.0277;AF_female=0.0275;AF_raw=0.0276;AF_afr=0.0074;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0378;AF_fin=0.0440;AF_asj=0.0517;AF_oth=0.0276;non_topmed_AF_popmax=0.0362;non_neuro_AF_popmax=0.0369;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0058149;Kaviar_AC=899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466843 rs142671595 C T 100 PASS AC=3;AF=0.00499201;AN=214;NS=2504;DP=18131;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142671595;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0111;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0129;ExAC_nontcga_SAS=0.0056;AF=0.0085;AF_popmax=0.0108;AF_male=0.0086;AF_female=0.0084;AF_raw=0.0085;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0204;AF_asj=0.0172;AF_oth=0.0119;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0115;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0077942;Kaviar_AC=1205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466862 rs3820627 C T 100 PASS AC=4;AF=0.0421326;AN=214;NS=2504;DP=18459;EAS_AF=0.0962;AMR_AF=0.0504;AFR_AF=0.0106;EUR_AF=0.0298;SAS_AF=0.0358;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0421326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3820627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0331;ExAC_nontcga_ALL=0.0414;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.0565;ExAC_nontcga_EAS=0.0831;ExAC_nontcga_FIN=0.0514;ExAC_nontcga_NFE=0.0369;ExAC_nontcga_OTH=0.0393;ExAC_nontcga_SAS=0.0323;AF=0.0359;AF_popmax=0.0763;AF_male=0.0360;AF_female=0.0358;AF_raw=0.0359;AF_afr=0.0165;AF_sas=.;AF_amr=0.0590;AF_eas=0.0763;AF_nfe=0.0365;AF_fin=0.0593;AF_asj=0.0172;AF_oth=0.0377;non_topmed_AF_popmax=0.0775;non_neuro_AF_popmax=0.0763;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.038156;Kaviar_AC=5899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228467072 rs185248802 C G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=15002;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.C7323G:p.T2441T,OBSCN:NM_052843:exon27:c.C7323G:p.T2441T,OBSCN:NM_001271223:exon32:c.C8610G:p.T2870T;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185248802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0101;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0302;ExAC_nontcga_NFE=0.0128;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0019;AF=0.0140;AF_popmax=0.0199;AF_male=0.0127;AF_female=0.0156;AF_raw=0.0141;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0199;AF_fin=0.0302;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0236;non_neuro_AF_popmax=0.0203;non_cancer_AF_popmax=.;controls_AF_popmax=0.0340;Kaviar_AF=0.0089197;Kaviar_AC=1379;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467095 rs200720682 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15413;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A,OBSCN:NM_052843:exon27:c.T7346C:p.V2449A,OBSCN:NM_001271223:exon32:c.T8633C:p.V2878A;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200720682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.036;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.972;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.428;LRT_pred=D;MutationTaster_score=0.761;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.685;MutationAssessor_score_rankscore=0.788;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-2.89;PROVEAN_converted_rankscore=0.606;PROVEAN_pred=D;VEST3_score=0.254;VEST3_rankscore=0.438;MetaSVM_score=-0.578;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.200;MetaLR_rankscore=0.557;MetaLR_pred=T;M-CAP_score=0.238;M-CAP_rankscore=0.886;M-CAP_pred=D;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.990;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.910;DANN_rankscore=0.196;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.856;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.431;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.47;GERP++_RS_rankscore=0.536;phyloP100way_vertebrate=7.412;phyloP100way_vertebrate_rankscore=0.791;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.827;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=14.048;SiPhy_29way_logOdds_rankscore=0.641;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0093;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0045;ExAC_nontcga_SAS=0.0038;AF=0.0055;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0062;AF_raw=0.0054;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0052328;Kaviar_AC=809;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467158 rs146022568 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16747;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146022568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0018;AF_popmax=0.0032;AF_male=0.0019;AF_female=0.0016;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467642 rs139306713 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19048;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.C7517T:p.T2506M,OBSCN:NM_052843:exon28:c.C7517T:p.T2506M,OBSCN:NM_001271223:exon33:c.C8804T:p.T2935M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139306713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.398;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=0.068;LRT_converted_rankscore=0.217;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.645;MutationAssessor_score_rankscore=0.421;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-3.17;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.116;VEST3_rankscore=0.144;MetaSVM_score=-0.775;MetaSVM_rankscore=0.566;MetaSVM_pred=T;MetaLR_score=0.314;MetaLR_rankscore=0.684;MetaLR_pred=T;M-CAP_score=0.164;M-CAP_rankscore=0.844;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.815;CADD_raw_rankscore=0.515;CADD_phred=23.4;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.084;fathmm-MKL_coding_rankscore=0.142;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.310;Eigen-PC-raw=-0.454;GenoCanyon_score=0.546;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.05;GERP++_RS_rankscore=0.257;phyloP100way_vertebrate=-0.637;phyloP100way_vertebrate_rankscore=0.055;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=2.487;SiPhy_29way_logOdds_rankscore=0.043;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0005;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0001;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +1 228467711 rs3795783 G A 100 PASS AC=6;AF=0.0836661;AN=214;NS=2504;DP=19444;EAS_AF=0.3056;AMR_AF=0.0115;AFR_AF=0.0166;EUR_AF=0.0258;SAS_AF=0.0562;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.G7586A:p.R2529Q,OBSCN:NM_052843:exon28:c.G7586A:p.R2529Q,OBSCN:NM_001271223:exon33:c.G8873A:p.R2958Q;1000g2015aug_all=0.0836661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795783;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.589;SIFT_converted_rankscore=0.058;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.96;Polyphen2_HVAR_rankscore=0.686;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=P;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_converted_rankscore=0.443;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.457;MetaSVM_score=-1.001;MetaSVM_rankscore=0.296;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.250;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.997;DANN_rankscore=0.784;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_rankscore=0.182;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.137;Eigen-PC-raw=-0.218;GenoCanyon_score=0.897;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=3.54;GERP++_RS_rankscore=0.395;phyloP100way_vertebrate=1.813;phyloP100way_vertebrate_rankscore=0.384;phyloP20way_mammalian=1.043;phyloP20way_mammalian_rankscore=0.663;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.638;phastCons20way_mammalian_rankscore=0.296;SiPhy_29way_logOdds=5.643;SiPhy_29way_logOdds_rankscore=0.167;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0184;ExAC_nontcga_ALL=0.0789;ExAC_nontcga_AFR=0.0307;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.4189;ExAC_nontcga_FIN=0.0967;ExAC_nontcga_NFE=0.0395;ExAC_nontcga_OTH=0.0587;ExAC_nontcga_SAS=0.0609;AF=0.0391;AF_popmax=0.3080;AF_male=0.0399;AF_female=0.0382;AF_raw=0.0393;AF_afr=0.0190;AF_sas=.;AF_amr=0.0130;AF_eas=0.3080;AF_nfe=0.0222;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0313;non_topmed_AF_popmax=0.3038;non_neuro_AF_popmax=0.3080;non_cancer_AF_popmax=.;controls_AF_popmax=0.3096;Kaviar_AF=0.0425803;Kaviar_AC=6583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467969 rs202052558 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17993;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon29:c.G7753C:p.D2585H,OBSCN:NM_052843:exon29:c.G7753C:p.D2585H,OBSCN:NM_001271223:exon34:c.G9040C:p.D3014H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202052558;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.23;MutationAssessor_score_rankscore=0.897;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-3.86;PROVEAN_converted_rankscore=0.751;PROVEAN_pred=D;VEST3_score=0.245;VEST3_rankscore=0.422;MetaSVM_score=-0.092;MetaSVM_rankscore=0.803;MetaSVM_pred=T;MetaLR_score=0.462;MetaLR_rankscore=0.792;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.087;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.974;DANN_rankscore=0.333;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.519;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.418;Eigen-PC-raw=0.401;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.414;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=2.374;phyloP100way_vertebrate_rankscore=0.437;phyloP20way_mammalian=1.043;phyloP20way_mammalian_rankscore=0.663;phastCons100way_vertebrate=0.913;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.577;phastCons20way_mammalian_rankscore=0.284;SiPhy_29way_logOdds=10.470;SiPhy_29way_logOdds_rankscore=0.436;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0031;AF=0.0006;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0007503;Kaviar_AC=116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.194632;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468179 rs201001779 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16516;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201001779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201001779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468244 rs12061320 G A 100 PASS AC=6;AF=0.113618;AN=214;NS=2504;DP=16189;EAS_AF=0.3185;AMR_AF=0.0173;AFR_AF=0.115;EUR_AF=0.0268;SAS_AF=0.0583;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G7944A:p.V2648V,OBSCN:NM_052843:exon30:c.G7944A:p.V2648V,OBSCN:NM_001271223:exon35:c.G9231A:p.V3077V;1000g2015aug_all=0.113618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12061320;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0183;ExAC_nontcga_ALL=0.0588;ExAC_nontcga_AFR=0.1128;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0.3425;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0235;ExAC_nontcga_OTH=0.0373;ExAC_nontcga_SAS=0.0472;AF=0.0622;AF_popmax=0.3235;AF_male=0.0632;AF_female=0.0610;AF_raw=0.0624;AF_afr=0.0972;AF_sas=.;AF_amr=0.0177;AF_eas=0.3235;AF_nfe=0.0227;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0369;non_topmed_AF_popmax=0.3190;non_neuro_AF_popmax=0.3235;non_cancer_AF_popmax=.;controls_AF_popmax=0.3249;Kaviar_AF=0.0530976;Kaviar_AC=8209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468458 rs1188697 G A 100 PASS AC=54;AF=0.31889;AN=214;NS=2504;DP=14985;EAS_AF=0.247;AMR_AF=0.3343;AFR_AF=0.469;EUR_AF=0.2962;SAS_AF=0.2025;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;1000g2015aug_all=0.31889;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188697;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.14;SIFT_converted_rankscore=0.256;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_rankscore=0.595;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_converted_rankscore=0.130;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.41;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.139;VEST3_rankscore=0.498;MetaSVM_score=-0.998;MetaSVM_rankscore=0.304;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.353;REVEL_rankscore=0.678;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.572;CADD_raw_rankscore=0.251;CADD_phred=13.70;DANN_score=0.989;DANN_rankscore=0.471;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.235;Eigen-PC-raw=-0.383;GenoCanyon_score=0.435;GenoCanyon_score_rankscore=0.204;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=0.451;GERP++_RS_rankscore=0.158;phyloP100way_vertebrate=0.482;phyloP100way_vertebrate_rankscore=0.218;phyloP20way_mammalian=0.134;phyloP20way_mammalian_rankscore=0.217;phastCons100way_vertebrate=0.021;phastCons100way_vertebrate_rankscore=0.196;phastCons20way_mammalian=0.474;phastCons20way_mammalian_rankscore=0.266;SiPhy_29way_logOdds=8.559;SiPhy_29way_logOdds_rankscore=0.325;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2785;ExAC_nontcga_ALL=0.2984;ExAC_nontcga_AFR=0.4034;ExAC_nontcga_AMR=0.2861;ExAC_nontcga_EAS=0.2016;ExAC_nontcga_FIN=0.3870;ExAC_nontcga_NFE=0.3113;ExAC_nontcga_OTH=0.2892;ExAC_nontcga_SAS=0.2281;AF=0.3381;AF_popmax=0.3926;AF_male=0.3355;AF_female=0.3413;AF_raw=0.3388;AF_afr=0.3926;AF_sas=.;AF_amr=0.2861;AF_eas=0.1965;AF_nfe=0.3185;AF_fin=0.3693;AF_asj=0.2587;AF_oth=0.3441;non_topmed_AF_popmax=0.3930;non_neuro_AF_popmax=0.3960;non_cancer_AF_popmax=.;controls_AF_popmax=0.4039;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228468566 rs4653934 A G 100 PASS AC=74;AF=0.239816;AN=214;NS=2504;DP=15993;EAS_AF=0.1845;AMR_AF=0.3545;AFR_AF=0.1876;EUR_AF=0.3489;SAS_AF=0.1738;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3249;AF_popmax=0.4372;AF_male=0.3238;AF_female=0.3263;AF_raw=0.3251;AF_afr=0.2461;AF_sas=.;AF_amr=0.4372;AF_eas=0.1794;AF_nfe=0.3703;AF_fin=0.3535;AF_asj=0.3611;AF_oth=0.3312;non_topmed_AF_popmax=0.4367;non_neuro_AF_popmax=0.4436;non_cancer_AF_popmax=.;controls_AF_popmax=0.4065;Kaviar_AF=0.326802;Kaviar_AC=8506;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 +1 228469720 rs140186693 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8284A:p.E2762K,OBSCN:NM_052843:exon31:c.G8284A:p.E2762K,OBSCN:NM_001271223:exon36:c.G9571A:p.E3191K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140186693;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.64;Polyphen2_HVAR_rankscore=0.607;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.87;MutationAssessor_score_rankscore=0.836;MutationAssessor_pred=M;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_converted_rankscore=0.547;PROVEAN_pred=D;VEST3_score=0.262;VEST3_rankscore=0.427;MetaSVM_score=-0.488;MetaSVM_rankscore=0.691;MetaSVM_pred=T;MetaLR_score=0.341;MetaLR_rankscore=0.707;MetaLR_pred=T;M-CAP_score=0.080;M-CAP_rankscore=0.735;M-CAP_pred=D;REVEL_score=0.333;REVEL_rankscore=0.659;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.733;CADD_raw_rankscore=0.389;CADD_phred=21.0;DANN_score=0.998;DANN_rankscore=0.928;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.645;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.022;Eigen-PC-raw=-0.145;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.303;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.38;GERP++_RS_rankscore=0.283;phyloP100way_vertebrate=6.263;phyloP100way_vertebrate_rankscore=0.723;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.262;phastCons20way_mammalian_rankscore=0.230;SiPhy_29way_logOdds=14.692;SiPhy_29way_logOdds_rankscore=0.686;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.903e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469801 rs150312546 G C 100 PASS AC=8;AF=0.0111821;AN=214;NS=2504;DP=17074;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.003;EUR_AF=0.0258;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8365C:p.G2789R,OBSCN:NM_052843:exon31:c.G8365C:p.G2789R,OBSCN:NM_001271223:exon36:c.G9652C:p.G3218R;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150312546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.880;PROVEAN_pred=D;VEST3_score=0.256;VEST3_rankscore=0.697;MetaSVM_score=-0.453;MetaSVM_rankscore=0.703;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_rankscore=0.426;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.043;CADD_raw_rankscore=0.679;CADD_phred=25.2;DANN_score=0.999;DANN_rankscore=0.984;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.928;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.659;Eigen-PC-raw=0.532;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.45;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=7.618;phyloP100way_vertebrate_rankscore=0.821;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.320;phastCons20way_mammalian_rankscore=0.241;SiPhy_29way_logOdds=17.475;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0146;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0075;ExAC_nontcga_NFE=0.0217;ExAC_nontcga_OTH=0.0198;ExAC_nontcga_SAS=0.0074;AF=0.0135;AF_popmax=0.0217;AF_male=0.0127;AF_female=0.0145;AF_raw=0.0135;AF_afr=0.0033;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0063;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0218;non_neuro_AF_popmax=0.0215;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0150516;Kaviar_AC=2327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469870 rs3795785 C T 100 PASS AC=6;AF=0.0872604;AN=214;NS=2504;DP=16137;EAS_AF=0.2808;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0249;SAS_AF=0.0634;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.C8434T:p.R2812W,OBSCN:NM_052843:exon31:c.C8434T:p.R2812W,OBSCN:NM_001271223:exon36:c.C9721T:p.R3241W;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795785;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.058;Polyphen2_HDIV_rankscore=0.215;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=0.991;LRT_converted_rankscore=0.079;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.369;MutationTaster_pred=P;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_converted_rankscore=0.758;PROVEAN_pred=D;VEST3_score=0.033;VEST3_rankscore=0.387;MetaSVM_score=-1.013;MetaSVM_rankscore=0.259;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.132;REVEL_rankscore=0.365;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.777;CADD_raw_rankscore=0.395;CADD_phred=21.2;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_rankscore=0.237;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.189;Eigen-PC-raw=-1.268;GenoCanyon_score=0.960;GenoCanyon_score_rankscore=0.284;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-0.154;GERP++_RS_rankscore=0.127;phyloP100way_vertebrate=1.003;phyloP100way_vertebrate_rankscore=0.292;phyloP20way_mammalian=-0.471;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.640;phastCons20way_mammalian_rankscore=0.296;SiPhy_29way_logOdds=10.162;SiPhy_29way_logOdds_rankscore=0.418;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0178;ExAC_nontcga_ALL=0.0498;ExAC_nontcga_AFR=0.0462;ExAC_nontcga_AMR=0.0084;ExAC_nontcga_EAS=0.2895;ExAC_nontcga_FIN=0.0593;ExAC_nontcga_NFE=0.0225;ExAC_nontcga_OTH=0.0389;ExAC_nontcga_SAS=0.0521;AF=0.0446;AF_popmax=0.2884;AF_male=0.0454;AF_female=0.0435;AF_raw=0.0448;AF_afr=0.0424;AF_sas=.;AF_amr=0.0130;AF_eas=0.2884;AF_nfe=0.0218;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.2844;non_neuro_AF_popmax=0.2884;non_cancer_AF_popmax=.;controls_AF_popmax=0.2903;Kaviar_AF=0.0446501;Kaviar_AC=6903;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469903 rs3795786 A T 100 PASS AC=3;AF=0.0766773;AN=214;NS=2504;DP=15849;EAS_AF=0.2927;AMR_AF=0.0058;AFR_AF=0.0166;EUR_AF=0.007;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=OBSCN:NM_001098623:exon31:c.A8467T:p.R2823X,OBSCN:NM_052843:exon31:c.A8467T:p.R2823X,OBSCN:NM_001271223:exon36:c.A9754T:p.R3252X;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.228;LRT_converted_rankscore=0.160;LRT_pred=N;MutationTaster_score=1e-37;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.513;CADD_raw_rankscore=0.975;CADD_phred=37;DANN_score=0.998;DANN_rankscore=0.856;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.515;Eigen-PC-raw=0.250;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.387;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.21;GERP++_RS_rankscore=0.488;phyloP100way_vertebrate=3.900;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.083;phyloP20way_mammalian_rankscore=0.853;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.058;phastCons20way_mammalian_rankscore=0.169;SiPhy_29way_logOdds=13.608;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0373;ExAC_nontcga_AFR=0.0161;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.2992;ExAC_nontcga_FIN=0.0359;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0285;ExAC_nontcga_SAS=0.0466;AF=0.0264;AF_popmax=0.2911;AF_male=0.0275;AF_female=0.0251;AF_raw=0.0267;AF_afr=0.0165;AF_sas=.;AF_amr=0.0047;AF_eas=0.2911;AF_nfe=0.0050;AF_fin=0.0369;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.2871;non_neuro_AF_popmax=0.2911;non_cancer_AF_popmax=.;controls_AF_popmax=0.2963;Kaviar_AF=0.0310604;Kaviar_AC=4802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469904 rs3795787 G T 100 PASS AC=3;AF=0.0766773;AN=214;NS=2504;DP=15826;EAS_AF=0.2927;AMR_AF=0.0058;AFR_AF=0.0166;EUR_AF=0.007;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8468T:p.R2823I,OBSCN:NM_052843:exon31:c.G8468T:p.R2823I,OBSCN:NM_001271223:exon36:c.G9755T:p.R3252I;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.59;Polyphen2_HDIV_rankscore=0.372;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.327;Polyphen2_HVAR_rankscore=0.402;Polyphen2_HVAR_pred=B;LRT_score=0.228;LRT_converted_rankscore=0.160;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.83;MutationAssessor_score_rankscore=0.482;MutationAssessor_pred=L;FATHMM_score=-0.96;FATHMM_converted_rankscore=0.756;FATHMM_pred=T;PROVEAN_score=-4.44;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.239;VEST3_rankscore=0.403;MetaSVM_score=-1.081;MetaSVM_rankscore=0.072;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.302;REVEL_rankscore=0.627;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.320;CADD_raw_rankscore=0.458;CADD_phred=22.9;DANN_score=0.930;DANN_rankscore=0.219;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_rankscore=0.419;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.941;Eigen-PC-raw=-1.092;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=-7.84;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=0.995;phyloP100way_vertebrate_rankscore=0.291;phyloP20way_mammalian=-1.097;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.050;phastCons20way_mammalian_rankscore=0.164;SiPhy_29way_logOdds=7.739;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.052;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0372;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.2986;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0285;ExAC_nontcga_SAS=0.0466;AF=0.0264;AF_popmax=0.2907;AF_male=0.0275;AF_female=0.0251;AF_raw=0.0267;AF_afr=0.0165;AF_sas=.;AF_amr=0.0047;AF_eas=0.2907;AF_nfe=0.0050;AF_fin=0.0369;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.2868;non_neuro_AF_popmax=0.2907;non_cancer_AF_popmax=.;controls_AF_popmax=0.2956;Kaviar_AF=0.0310798;Kaviar_AC=4805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228470995 rs1150906 G T 100 PASS AC=53;AF=0.318091;AN=214;NS=2504;DP=16667;EAS_AF=0.249;AMR_AF=0.3329;AFR_AF=0.4675;EUR_AF=0.2932;SAS_AF=0.2025;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.318091;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2859;ExAC_nontcga_ALL=0.3432;ExAC_nontcga_AFR=0.4550;ExAC_nontcga_AMR=0.3755;ExAC_nontcga_EAS=0.2933;ExAC_nontcga_FIN=0.4841;ExAC_nontcga_NFE=0.3786;ExAC_nontcga_OTH=0.3512;ExAC_nontcga_SAS=0.2533;AF=0.3382;AF_popmax=0.3945;AF_male=0.3354;AF_female=0.3417;AF_raw=0.3383;AF_afr=0.3945;AF_sas=.;AF_amr=0.2877;AF_eas=0.1961;AF_nfe=0.3179;AF_fin=0.3694;AF_asj=0.2552;AF_oth=0.3416;non_topmed_AF_popmax=0.3948;non_neuro_AF_popmax=0.3969;non_cancer_AF_popmax=.;controls_AF_popmax=0.4036;Kaviar_AF=0.217817;Kaviar_AC=33675;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389191|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228471028 rs551369052 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15906;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551369052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.357e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228471046 rs41303079 C T 100 PASS AC=70;AF=0.147364;AN=214;NS=2504;DP=15700;EAS_AF=0.0565;AMR_AF=0.2594;AFR_AF=0.0446;EUR_AF=0.3171;SAS_AF=0.1258;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41303079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2451;AF_popmax=0.3324;AF_male=0.2415;AF_female=0.2496;AF_raw=0.2450;AF_afr=0.0905;AF_sas=.;AF_amr=0.3267;AF_eas=0.0604;AF_nfe=0.3324;AF_fin=0.2920;AF_asj=0.3138;AF_oth=0.2795;non_topmed_AF_popmax=0.3280;non_neuro_AF_popmax=0.3310;non_cancer_AF_popmax=.;controls_AF_popmax=0.3261;Kaviar_AF=0.268288;Kaviar_AC=6983;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.297794::0.265045;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 +1 228471379 rs56168609 G C 100 PASS AC=75;AF=0.230232;AN=214;NS=2504;DP=17988;EAS_AF=0.1528;AMR_AF=0.3242;AFR_AF=0.1989;EUR_AF=0.3499;SAS_AF=0.1626;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.G8913C:p.R2971R,OBSCN:NM_052843:exon33:c.G8913C:p.R2971R,OBSCN:NM_001271223:exon38:c.G10200C:p.R3400R;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56168609;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3681;ExAC_nontcga_ALL=0.3175;ExAC_nontcga_AFR=0.2414;ExAC_nontcga_AMR=0.3832;ExAC_nontcga_EAS=0.1542;ExAC_nontcga_FIN=0.3253;ExAC_nontcga_NFE=0.3724;ExAC_nontcga_OTH=0.3280;ExAC_nontcga_SAS=0.2053;AF=0.3227;AF_popmax=0.3972;AF_male=0.3209;AF_female=0.3248;AF_raw=0.3228;AF_afr=0.2514;AF_sas=.;AF_amr=0.3972;AF_eas=0.1378;AF_nfe=0.3703;AF_fin=0.3512;AF_asj=0.3576;AF_oth=0.3256;non_topmed_AF_popmax=0.3948;non_neuro_AF_popmax=0.4058;non_cancer_AF_popmax=.;controls_AF_popmax=0.3740;Kaviar_AF=0.318256;Kaviar_AC=49203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.334559::0.223564;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 +1 228473733 rs573418208 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19159;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573418208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228474422 rs185979863 G C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=17479;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185979863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0081;AF_male=0.0048;AF_female=0.0062;AF_raw=0.0054;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0063;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.001313;Kaviar_AC=203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228475715 rs138782220 A G 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=21137;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.0031;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138782220;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0157;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0057;AF=0.0120;AF_popmax=0.0175;AF_male=0.0117;AF_female=0.0124;AF_raw=0.0120;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0120374;Kaviar_AC=1861;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138782220;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0157;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0057;AF=0.0120;AF_popmax=0.0175;AF_male=0.0117;AF_female=0.0124;AF_raw=0.0120;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0120374;Kaviar_AC=1861;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228475848 rs437129 G A 100 PASS AC=53;AF=0.302716;AN=214;NS=2504;DP=20091;EAS_AF=0.247;AMR_AF=0.3242;AFR_AF=0.4153;EUR_AF=0.2932;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;1000g2015aug_all=0.302716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs437129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.4;SIFT_converted_rankscore=0.105;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.546;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_rankscore=0.591;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_converted_rankscore=0.120;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.231;MutationTaster_pred=P;MutationAssessor_score=2.895;MutationAssessor_score_rankscore=0.841;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-1.28;PROVEAN_converted_rankscore=0.322;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.270;MetaSVM_score=-0.972;MetaSVM_rankscore=0.368;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.107;CADD_raw_rankscore=0.551;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_rankscore=0.253;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.195;Eigen-PC-raw=0.132;GenoCanyon_score=0.055;GenoCanyon_score_rankscore=0.150;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=2.760;phyloP100way_vertebrate_rankscore=0.470;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.943;phastCons100way_vertebrate_rankscore=0.325;phastCons20way_mammalian=0.515;phastCons20way_mammalian_rankscore=0.273;SiPhy_29way_logOdds=10.701;SiPhy_29way_logOdds_rankscore=0.449;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2973;ExAC_nontcga_ALL=0.2917;ExAC_nontcga_AFR=0.3519;ExAC_nontcga_AMR=0.2816;ExAC_nontcga_EAS=0.2005;ExAC_nontcga_FIN=0.3863;ExAC_nontcga_NFE=0.3057;ExAC_nontcga_OTH=0.2884;ExAC_nontcga_SAS=0.2264;AF=0.3242;AF_popmax=0.3476;AF_male=0.3211;AF_female=0.3280;AF_raw=0.3247;AF_afr=0.3476;AF_sas=.;AF_amr=0.2849;AF_eas=0.1973;AF_nfe=0.3160;AF_fin=0.3690;AF_asj=0.2552;AF_oth=0.3404;non_topmed_AF_popmax=0.3476;non_neuro_AF_popmax=0.3551;non_cancer_AF_popmax=.;controls_AF_popmax=0.3610;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228476366 rs3795789 G T 100 PASS AC=6;AF=0.0958466;AN=214;NS=2504;DP=21025;EAS_AF=0.3165;AMR_AF=0.0144;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10116T:p.E3372D,OBSCN:NM_052843:exon38:c.G10116T:p.E3372D,OBSCN:NM_001271223:exon43:c.G11403T:p.E3801D;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795789;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_rankscore=0.387;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.472;Polyphen2_HVAR_rankscore=0.515;Polyphen2_HVAR_pred=P;LRT_score=0.066;LRT_converted_rankscore=0.218;LRT_pred=N;MutationTaster_score=0.794;MutationTaster_converted_rankscore=0.331;MutationTaster_pred=P;MutationAssessor_score=3.11;MutationAssessor_score_rankscore=0.880;MutationAssessor_pred=M;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_converted_rankscore=0.468;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.104;MetaSVM_score=-1.071;MetaSVM_rankscore=0.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.212;REVEL_rankscore=0.508;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.734;CADD_raw_rankscore=0.390;CADD_phred=21.0;DANN_score=0.979;DANN_rankscore=0.364;fathmm-MKL_coding_score=0.662;fathmm-MKL_coding_rankscore=0.327;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.207;Eigen-PC-raw=-0.325;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.133;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.15;GERP++_RS_rankscore=0.351;phyloP100way_vertebrate=0.375;phyloP100way_vertebrate_rankscore=0.201;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.064;phastCons100way_vertebrate_rankscore=0.217;phastCons20way_mammalian=0.026;phastCons20way_mammalian_rankscore=0.142;SiPhy_29way_logOdds=6.425;SiPhy_29way_logOdds_rankscore=0.208;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0541;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.3372;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0484;AF_popmax=0.3210;AF_male=0.0492;AF_female=0.0475;AF_raw=0.0487;AF_afr=0.0498;AF_sas=.;AF_amr=0.0142;AF_eas=0.3210;AF_nfe=0.0223;AF_fin=0.0549;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.3165;non_neuro_AF_popmax=0.3210;non_cancer_AF_popmax=.;controls_AF_popmax=0.3205;Kaviar_AF=0.04661;Kaviar_AC=7206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476367 rs3795790 A T 100 PASS AC=6;AF=0.0958466;AN=214;NS=2504;DP=20986;EAS_AF=0.3165;AMR_AF=0.0144;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.0583;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.A10117T:p.S3373C,OBSCN:NM_052843:exon38:c.A10117T:p.S3373C,OBSCN:NM_001271223:exon43:c.A11404T:p.S3802C;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795790;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.082;SIFT_converted_rankscore=0.332;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.520;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.590;Polyphen2_HVAR_pred=P;LRT_score=0.319;LRT_converted_rankscore=0.143;LRT_pred=U;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.248;MutationTaster_pred=P;MutationAssessor_score=0.32;MutationAssessor_score_rankscore=0.103;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.072;VEST3_rankscore=0.410;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.116;CADD_raw_rankscore=0.315;CADD_phred=16.96;DANN_score=0.719;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.246;fathmm-MKL_coding_rankscore=0.222;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.156;Eigen-PC-raw=-1.333;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-1.33;GERP++_RS_rankscore=0.086;phyloP100way_vertebrate=0.295;phyloP100way_vertebrate_rankscore=0.187;phyloP20way_mammalian=-1.072;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0142;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0541;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.3379;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0488;AF_popmax=0.3235;AF_male=0.0495;AF_female=0.0480;AF_raw=0.0487;AF_afr=0.0503;AF_sas=.;AF_amr=0.0142;AF_eas=0.3235;AF_nfe=0.0225;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0334;non_topmed_AF_popmax=0.3186;non_neuro_AF_popmax=0.3235;non_cancer_AF_popmax=.;controls_AF_popmax=0.3241;Kaviar_AF=0.0466229;Kaviar_AC=7208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476390 rs568828036 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21132;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10140A:p.T3380T,OBSCN:NM_052843:exon38:c.G10140A:p.T3380T,OBSCN:NM_001271223:exon43:c.G11427A:p.T3809T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568828036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.187e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476414 rs3795791 G A 100 PASS AC=6;AF=0.0938498;AN=214;NS=2504;DP=20753;EAS_AF=0.3175;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0258;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10164A:p.A3388A,OBSCN:NM_052843:exon38:c.G10164A:p.A3388A,OBSCN:NM_001271223:exon43:c.G11451A:p.A3817A;1000g2015aug_all=0.0938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0451;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.3415;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0469;AF=0.0470;AF_popmax=0.3279;AF_male=0.0479;AF_female=0.0458;AF_raw=0.0469;AF_afr=0.0428;AF_sas=.;AF_amr=0.0130;AF_eas=0.3279;AF_nfe=0.0225;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0332;non_topmed_AF_popmax=0.3236;non_neuro_AF_popmax=0.3279;non_cancer_AF_popmax=.;controls_AF_popmax=0.3293;Kaviar_AF=0.0477355;Kaviar_AC=7380;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476526 rs545042549 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18997;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10276A:p.D3426N,OBSCN:NM_052843:exon38:c.G10276A:p.D3426N,OBSCN:NM_001271223:exon43:c.G11563A:p.D3855N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545042549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.028;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.008;LRT_converted_rankscore=0.311;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.28;MutationAssessor_score_rankscore=0.982;MutationAssessor_pred=H;FATHMM_score=-1.44;FATHMM_converted_rankscore=0.808;FATHMM_pred=T;PROVEAN_score=-3.48;PROVEAN_converted_rankscore=0.679;PROVEAN_pred=D;VEST3_score=0.161;VEST3_rankscore=0.347;MetaSVM_score=0.881;MetaSVM_rankscore=0.954;MetaSVM_pred=D;MetaLR_score=0.799;MetaLR_rankscore=0.932;MetaLR_pred=D;M-CAP_score=0.110;M-CAP_rankscore=0.789;M-CAP_pred=D;REVEL_score=0.613;REVEL_rankscore=0.851;MutPred_score=0.882;MutPred_rankscore=0.969;CADD_raw=5.578;CADD_raw_rankscore=0.759;CADD_phred=26.5;DANN_score=0.993;DANN_rankscore=0.575;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.572;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.689;Eigen-PC-raw=0.498;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.913;phyloP100way_vertebrate_rankscore=0.868;phyloP20way_mammalian=0.994;phyloP20way_mammalian_rankscore=0.605;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.131;phastCons20way_mammalian_rankscore=0.199;SiPhy_29way_logOdds=18.553;SiPhy_29way_logOdds_rankscore=0.910;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228480282 rs1150908 A G 100 PASS AC=134;AF=0.698882;AN=214;NS=2504;DP=19841;EAS_AF=0.749;AMR_AF=0.7147;AFR_AF=0.8669;EUR_AF=0.672;SAS_AF=0.4366;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;1000g2015aug_all=0.698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7022;ExAC_nontcga_ALL=0.6932;ExAC_nontcga_AFR=0.8302;ExAC_nontcga_AMR=0.7505;ExAC_nontcga_EAS=0.7288;ExAC_nontcga_FIN=0.7722;ExAC_nontcga_NFE=0.7050;ExAC_nontcga_OTH=0.6580;ExAC_nontcga_SAS=0.4966;AF=0.7513;AF_popmax=0.8239;AF_male=0.7500;AF_female=0.7530;AF_raw=0.7511;AF_afr=0.8239;AF_sas=.;AF_amr=0.7524;AF_eas=0.7001;AF_nfe=0.7136;AF_fin=0.7779;AF_asj=0.6586;AF_oth=0.7164;non_topmed_AF_popmax=0.8237;non_neuro_AF_popmax=0.8369;non_cancer_AF_popmax=.;controls_AF_popmax=0.8355;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228481116 rs369094782 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22393;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon41:c.G10930A:p.V3644M,OBSCN:NM_052843:exon41:c.G10930A:p.V3644M,OBSCN:NM_001271223:exon46:c.G12217A:p.V4073M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369094782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.133;Polyphen2_HDIV_rankscore=0.256;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.080;LRT_converted_rankscore=0.210;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.055;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.285;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.059;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.067;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.286;DANN_score=0.313;DANN_rankscore=0.018;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.043;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.207;Eigen-PC-raw=-1.222;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.26;GERP++_RS_rankscore=0.363;phyloP100way_vertebrate=-0.530;phyloP100way_vertebrate_rankscore=0.062;phyloP20way_mammalian=-0.353;phyloP20way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=9.530;SiPhy_29way_logOdds_rankscore=0.382;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.637e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.932e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.372e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228481382 rs148055866 C T 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=21984;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0041;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148055866;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0108;AF_popmax=0.0184;AF_male=0.0099;AF_female=0.0120;AF_raw=0.0108;AF_afr=0.0014;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0110;non_topmed_AF_popmax=0.0199;non_neuro_AF_popmax=0.0188;non_cancer_AF_popmax=.;controls_AF_popmax=0.0254;Kaviar_AF=0.0018046;Kaviar_AC=279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228481917 rs55702382 G A 100 PASS AC=4;AF=0.00878594;AN=214;NS=2504;DP=22342;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0184;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11196A:p.T3732T,OBSCN:NM_052843:exon42:c.G11196A:p.T3732T,OBSCN:NM_001271223:exon47:c.G12483A:p.T4161T;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55702382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0229;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0135;AF=0.0104;AF_popmax=0.0160;AF_male=0.0105;AF_female=0.0103;AF_raw=0.0104;AF_afr=0.0037;AF_sas=.;AF_amr=0.0106;AF_eas=0.0006;AF_nfe=0.0160;AF_fin=0.0023;AF_asj=0.0621;AF_oth=0.0119;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0141589;Kaviar_AC=2189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482010 rs449133 C T 100 PASS AC=94;AF=0.381989;AN=214;NS=2504;DP=20851;EAS_AF=0.247;AMR_AF=0.4179;AFR_AF=0.472;EUR_AF=0.4821;SAS_AF=0.271;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;1000g2015aug_all=0.381989;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs449133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4953;ExAC_nontcga_ALL=0.4309;ExAC_nontcga_AFR=0.4261;ExAC_nontcga_AMR=0.3482;ExAC_nontcga_EAS=0.2011;ExAC_nontcga_FIN=0.5641;ExAC_nontcga_NFE=0.4965;ExAC_nontcga_OTH=0.4391;ExAC_nontcga_SAS=0.3276;AF=0.4777;AF_popmax=0.5198;AF_male=0.4750;AF_female=0.4812;AF_raw=0.4768;AF_afr=0.4289;AF_sas=.;AF_amr=0.3895;AF_eas=0.2013;AF_nfe=0.5198;AF_fin=0.5581;AF_asj=0.4103;AF_oth=0.4954;non_topmed_AF_popmax=0.5223;non_neuro_AF_popmax=0.5200;non_cancer_AF_popmax=.;controls_AF_popmax=0.5405;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228482028 rs4653547 G C 100 PASS AC=34;AF=0.21246;AN=214;NS=2504;DP=20554;EAS_AF=0.1835;AMR_AF=0.2795;AFR_AF=0.3139;EUR_AF=0.164;SAS_AF=0.1074;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11307C:p.L3769L,OBSCN:NM_052843:exon42:c.G11307C:p.L3769L,OBSCN:NM_001271223:exon47:c.G12594C:p.L4198L;1000g2015aug_all=0.21246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653547;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1766;ExAC_nontcga_ALL=0.2054;ExAC_nontcga_AFR=0.3160;ExAC_nontcga_AMR=0.3921;ExAC_nontcga_EAS=0.1838;ExAC_nontcga_FIN=0.1521;ExAC_nontcga_NFE=0.1850;ExAC_nontcga_OTH=0.1826;ExAC_nontcga_SAS=0.1209;AF=0.2154;AF_popmax=0.3452;AF_male=0.2161;AF_female=0.2144;AF_raw=0.2157;AF_afr=0.3143;AF_sas=.;AF_amr=0.3452;AF_eas=0.1763;AF_nfe=0.1699;AF_fin=0.1644;AF_asj=0.2241;AF_oth=0.1851;non_topmed_AF_popmax=0.3441;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.3203;Kaviar_AF=0.196634;Kaviar_AC=30400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.602941;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228482059 rs56218706 G A 100 PASS AC=5;AF=0.00798722;AN=214;NS=2504;DP=20209;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11338A:p.G3780R,OBSCN:NM_052843:exon42:c.G11338A:p.G3780R,OBSCN:NM_001271223:exon47:c.G12625A:p.G4209R;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56218706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.011;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.354;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=4.69;MutationAssessor_score_rankscore=0.995;MutationAssessor_pred=H;FATHMM_score=2.3;FATHMM_converted_rankscore=0.170;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.927;PROVEAN_pred=D;VEST3_score=0.386;VEST3_rankscore=0.888;MetaSVM_score=-0.384;MetaSVM_rankscore=0.725;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.294;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.472;REVEL_rankscore=0.768;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.747;CADD_raw_rankscore=0.785;CADD_phred=26.9;DANN_score=0.998;DANN_rankscore=0.897;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.724;Eigen-PC-raw=0.533;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.05;GERP++_RS_rankscore=0.462;phyloP100way_vertebrate=5.696;phyloP100way_vertebrate_rankscore=0.677;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=15.666;SiPhy_29way_logOdds_rankscore=0.769;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0421;ExAC_nontcga_ALL=0.0200;ExAC_nontcga_AFR=0.0051;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0321;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0048;AF=0.0243;AF_popmax=0.0358;AF_male=0.0242;AF_female=0.0244;AF_raw=0.0242;AF_afr=0.0076;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0358;AF_fin=0.0253;AF_asj=0.0310;AF_oth=0.0285;non_topmed_AF_popmax=0.0332;non_neuro_AF_popmax=0.0356;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0225612;Kaviar_AC=3488;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000510|hsa-miR-320a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482125 rs550508890 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550508890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.201e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0024;AF_male=0;AF_female=0.0003;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482160 rs149553275 C T 100 PASS AC=1;AF=0.0225639;AN=214;NS=2504;DP=22254;EAS_AF=0.0139;AMR_AF=0.1383;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149553275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0188;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.1448;ExAC_nontcga_EAS=0.0173;ExAC_nontcga_FIN=0.0085;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0015;AF=0.0069;AF_popmax=0.1297;AF_male=0.0079;AF_female=0.0056;AF_raw=0.0069;AF_afr=0.0017;AF_sas=.;AF_amr=0.1297;AF_eas=0.0077;AF_nfe=0.0031;AF_fin=0.0043;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.1358;non_neuro_AF_popmax=0.1029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0976;Kaviar_AF=0.0170761;Kaviar_AC=2640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 228482569 rs56122236 G A 100 PASS AC=9;AF=0.0127796;AN=214;NS=2504;DP=19513;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0;EUR_AF=0.0447;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56122236;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0198;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0019;AF=0.0212;AF_popmax=0.0343;AF_male=0.0202;AF_female=0.0225;AF_raw=0.0213;AF_afr=0.0068;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0343;AF_fin=0.0106;AF_asj=0.0069;AF_oth=0.0165;non_topmed_AF_popmax=0.0366;non_neuro_AF_popmax=0.0344;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0214874;Kaviar_AC=3322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 228482663 rs139654872 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19718;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.C11578A:p.H3860N,OBSCN:NM_052843:exon43:c.C11578A:p.H3860N,OBSCN:NM_001271223:exon48:c.C12865A:p.H4289N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139654872;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.359;SIFT_converted_rankscore=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.772;Polyphen2_HDIV_rankscore=0.420;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.329;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_converted_rankscore=0.269;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.85;MutationAssessor_score_rankscore=0.213;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-1.48;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.181;MetaSVM_score=-0.980;MetaSVM_rankscore=0.350;MetaSVM_pred=T;MetaLR_score=0.146;MetaLR_rankscore=0.471;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.321;M-CAP_pred=T;REVEL_score=0.125;REVEL_rankscore=0.350;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.373;CADD_raw_rankscore=0.063;CADD_phred=0.450;DANN_score=0.427;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.175;fathmm-MKL_coding_rankscore=0.197;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.814;Eigen-PC-raw=-0.885;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.076;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.09;GERP++_RS_rankscore=0.260;phyloP100way_vertebrate=-0.597;phyloP100way_vertebrate_rankscore=0.058;phyloP20way_mammalian=-0.372;phyloP20way_mammalian_rankscore=0.066;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=9.869;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.47e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228486404 rs56021350 C T 100 PASS AC=31;AF=0.165935;AN=214;NS=2504;DP=21966;EAS_AF=0.1518;AMR_AF=0.2378;AFR_AF=0.1982;EUR_AF=0.1581;SAS_AF=0.0941;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon49:c.C13196T:p.T4399M;1000g2015aug_all=0.165935;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56021350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.688;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.084;VEST3_rankscore=0.329;MetaSVM_score=-1.017;MetaSVM_rankscore=0.247;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.548;CADD_raw_rankscore=0.146;CADD_phred=7.790;DANN_score=0.303;DANN_rankscore=0.016;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.080;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.053;Eigen-PC-raw=-1.266;GenoCanyon_score=0.037;GenoCanyon_score_rankscore=0.143;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-4.67;GERP++_RS_rankscore=0.031;phyloP100way_vertebrate=-2.306;phyloP100way_vertebrate_rankscore=0.012;phyloP20way_mammalian=-2.709;phyloP20way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=12.656;SiPhy_29way_logOdds_rankscore=0.560;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1788;ExAC_nontcga_ALL=0.1836;ExAC_nontcga_AFR=0.2243;ExAC_nontcga_AMR=0.3191;ExAC_nontcga_EAS=0.1544;ExAC_nontcga_FIN=0.1495;ExAC_nontcga_NFE=0.1822;ExAC_nontcga_OTH=0.1813;ExAC_nontcga_SAS=0.1044;AF=0.1863;AF_popmax=0.2886;AF_male=0.1841;AF_female=0.1891;AF_raw=0.1865;AF_afr=0.2304;AF_sas=.;AF_amr=0.2886;AF_eas=0.1364;AF_nfe=0.1674;AF_fin=0.1612;AF_asj=0.1966;AF_oth=0.1728;non_topmed_AF_popmax=0.2866;non_neuro_AF_popmax=0.2810;non_cancer_AF_popmax=.;controls_AF_popmax=0.2317;Kaviar_AF=0.17633;Kaviar_AC=27261;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228487165 rs191804425 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=22331;EAS_AF=0.002;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon50:c.C13416T:p.N4472N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191804425;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.794e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.528e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.487e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228491633 rs11584418 G A 100 PASS AC=5;AF=0.052516;AN=214;NS=2504;DP=22118;EAS_AF=0.0962;AMR_AF=0.0605;AFR_AF=0.0416;EUR_AF=0.0328;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon52:c.G13996A:p.V4666I;1000g2015aug_all=0.052516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11584418;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.59;FATHMM_converted_rankscore=0.133;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.037;VEST3_rankscore=0.075;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.427;CADD_raw_rankscore=0.135;CADD_phred=6.844;DANN_score=0.548;DANN_rankscore=0.051;fathmm-MKL_coding_score=0.350;fathmm-MKL_coding_rankscore=0.250;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.272;Eigen-PC-raw=-0.362;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.075;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=2.99;GERP++_RS_rankscore=0.335;phyloP100way_vertebrate=1.344;phyloP100way_vertebrate_rankscore=0.333;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.928;phastCons100way_vertebrate_rankscore=0.320;phastCons20way_mammalian=0.303;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=6.702;SiPhy_29way_logOdds_rankscore=0.223;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0397;ExAC_nontcga_ALL=0.0456;ExAC_nontcga_AFR=0.0543;ExAC_nontcga_AMR=0.0575;ExAC_nontcga_EAS=0.0822;ExAC_nontcga_FIN=0.0500;ExAC_nontcga_NFE=0.0392;ExAC_nontcga_OTH=0.0445;ExAC_nontcga_SAS=0.0340;AF=0.0484;AF_popmax=0.0766;AF_male=0.0494;AF_female=0.0472;AF_raw=0.0484;AF_afr=0.0578;AF_sas=.;AF_amr=0.0650;AF_eas=0.0766;AF_nfe=0.0373;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0432;non_topmed_AF_popmax=0.0778;non_neuro_AF_popmax=0.0766;non_cancer_AF_popmax=.;controls_AF_popmax=0.0842;Kaviar_AF=0.0433759;Kaviar_AC=6706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228492044 rs1150910 G A 100 PASS AC=97;AF=0.369209;AN=214;NS=2504;DP=20930;EAS_AF=0.249;AMR_AF=0.4121;AFR_AF=0.4221;EUR_AF=0.4861;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;1000g2015aug_all=0.369209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4905;ExAC_nontcga_ALL=0.4287;ExAC_nontcga_AFR=0.3886;ExAC_nontcga_AMR=0.3464;ExAC_nontcga_EAS=0.2000;ExAC_nontcga_FIN=0.5646;ExAC_nontcga_NFE=0.4992;ExAC_nontcga_OTH=0.4333;ExAC_nontcga_SAS=0.3276;AF=0.4655;AF_popmax=0.5205;AF_male=0.4623;AF_female=0.4696;AF_raw=0.4654;AF_afr=0.3845;AF_sas=.;AF_amr=0.3880;AF_eas=0.1997;AF_nfe=0.5205;AF_fin=0.5587;AF_asj=0.4207;AF_oth=0.4917;non_topmed_AF_popmax=0.5232;non_neuro_AF_popmax=0.5202;non_cancer_AF_popmax=.;controls_AF_popmax=0.5405;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228492061 rs560328132 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21212;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14060T:p.T4687M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560328132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.045;SIFT_converted_rankscore=0.408;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_converted_rankscore=0.540;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.259;MetaSVM_score=-0.830;MetaSVM_rankscore=0.533;MetaSVM_pred=T;MetaLR_score=0.195;MetaLR_rankscore=0.549;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.507;M-CAP_pred=D;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.464;CADD_raw_rankscore=0.139;CADD_phred=7.153;DANN_score=0.853;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.953;Eigen-PC-raw=-1.148;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.109;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-3.96;GERP++_RS_rankscore=0.038;phyloP100way_vertebrate=-3.887;phyloP100way_vertebrate_rankscore=0.004;phyloP20way_mammalian=-0.318;phyloP20way_mammalian_rankscore=0.077;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.134;SiPhy_29way_logOdds_rankscore=0.245;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.767e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.421e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.488e-05;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228492125 rs56335580 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14124T:p.T4708T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56335580;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0058;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=0.0033;AF_popmax=0.0059;AF_male=0.0030;AF_female=0.0037;AF_raw=0.0033;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0014;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0025226;Kaviar_AC=390;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END 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GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494070 rs528938803 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13635;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528938803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9998;dbscSNV_RF_SCORE=0.9;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494209 rs201397658 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16241;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.T11796C:p.N3932N,OBSCN:NM_052843:exon44:c.T11796C:p.N3932N,OBSCN:NM_001271223:exon55:c.T14667C:p.N4889N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201397658;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0010;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494346 rs560045774 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19493;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560045774;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0005905|hsa-miR-1254|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494357 rs3795795 C T 100 PASS AC=31;AF=0.166733;AN=214;NS=2504;DP=19356;EAS_AF=0.1518;AMR_AF=0.2406;AFR_AF=0.1974;EUR_AF=0.159;SAS_AF=0.0961;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.166733;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1716;ExAC_nontcga_ALL=0.1919;ExAC_nontcga_AFR=0.2300;ExAC_nontcga_AMR=0.3352;ExAC_nontcga_EAS=0.1636;ExAC_nontcga_FIN=0.1609;ExAC_nontcga_NFE=0.1903;ExAC_nontcga_OTH=0.1918;ExAC_nontcga_SAS=0.1111;AF=0.1863;AF_popmax=0.2920;AF_male=0.1839;AF_female=0.1892;AF_raw=0.1864;AF_afr=0.2275;AF_sas=.;AF_amr=0.2920;AF_eas=0.1358;AF_nfe=0.1684;AF_fin=0.1618;AF_asj=0.1979;AF_oth=0.1737;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2358;Kaviar_AF=0.172216;Kaviar_AC=26625;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228494382 rs1150911 T C,G 100 PASS AC=37,97;AF=0.321486,0.383387;AN=214;NS=2504;DP=19048;EAS_AF=0.497,0.249;AMR_AF=0.2983,0.4207;AFR_AF=0.4175,0.4713;EUR_AF=0.1869,0.4861;SAS_AF=0.1656,0.271;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.321486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2516;ExAC_nontcga_AFR=0.4168;ExAC_nontcga_AMR=0.3970;ExAC_nontcga_EAS=0.5153;ExAC_nontcga_FIN=0.2021;ExAC_nontcga_NFE=0.1989;ExAC_nontcga_OTH=0.2239;ExAC_nontcga_SAS=0.1689;AF=0.281;AF_popmax=0.5026;AF_male=0.2830;AF_female=0.2785;AF_raw=0.2809;AF_afr=0.4223;AF_sas=.;AF_amr=0.3587;AF_eas=0.5026;AF_nfe=0.1932;AF_fin=0.2196;AF_asj=0.2379;AF_oth=0.2223;non_topmed_AF_popmax=0.5007;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.5109;Kaviar_AF=0.0030077;Kaviar_AC=465;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.383387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6220;ExAC_nontcga_ALL=0.4414;ExAC_nontcga_AFR=0.4309;ExAC_nontcga_AMR=0.3542;ExAC_nontcga_EAS=0.2109;ExAC_nontcga_FIN=0.5718;ExAC_nontcga_NFE=0.5092;ExAC_nontcga_OTH=0.4459;ExAC_nontcga_SAS=0.3330;AF=0.4778;AF_popmax=0.5210;AF_male=0.4754;AF_female=0.4809;AF_raw=0.4776;AF_afr=0.4269;AF_sas=.;AF_amr=0.3931;AF_eas=0.1996;AF_nfe=0.5210;AF_fin=0.5586;AF_asj=0.4207;AF_oth=0.4963;non_topmed_AF_popmax=0.5233;non_neuro_AF_popmax=0.5213;non_cancer_AF_popmax=.;controls_AF_popmax=0.5401;Kaviar_AF=0.401159;Kaviar_AC=62020;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|2 1|1 0|2 2|2 2|0 0|1 2|2 1|0 1|2 2|0 1|2 2|1 2|2 2|0 1|0 0|2 2|2 2|1 0|2 2|2 0|2 2|2 0|0 2|2 0|0 0|1 0|2 2|1 2|2 0|2 2|2 0|2 2|0 1|0 2|0 0|2 0|2 1|0 0|0 2|2 1|0 0|0 0|0 2|1 2|2 1|0 1|0 2|2 0|0 2|2 1|1 2|2 2|1 0|2 2|2 2|0 1|2 0|2 0|2 2|2 0|0 2|0 2|2 1|0 0|0 0|0 0|1 1|2 0|2 0|2 0|0 1|2 1|1 0|0 2|0 2|0 0|1 0|2 2|0 0|2 0|2 2|0 1|2 2|0 1|2 0|2 2|0 2|0 1|0 1|0 2|0 2|0 1|2 2|2 2|2 0|0 1|2 0|1 1|2 2|0 0|2 0|0 2|0 2|0 2|2 2|2 0|1 +1 228494394 rs115773822 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18559;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115773822;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0036;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0038;AF_raw=0.0036;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0037268;Kaviar_AC=97;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494552 rs536286227 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20873;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536286227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494696 rs4653939 G A 100 PASS AC=37;AF=0.308506;AN=214;NS=2504;DP=20661;EAS_AF=0.497;AMR_AF=0.2925;AFR_AF=0.3714;EUR_AF=0.1869;SAS_AF=0.1656;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12021A:p.A4007A,OBSCN:NM_052843:exon45:c.G12021A:p.A4007A,OBSCN:NM_001271223:exon56:c.G14892A:p.A4964A;1000g2015aug_all=0.308506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1945;ExAC_nontcga_ALL=0.3253;ExAC_nontcga_AFR=0.4455;ExAC_nontcga_AMR=0.4944;ExAC_nontcga_EAS=0.5776;ExAC_nontcga_FIN=0.3068;ExAC_nontcga_NFE=0.2696;ExAC_nontcga_OTH=0.2952;ExAC_nontcga_SAS=0.2038;AF=0.2674;AF_popmax=0.5039;AF_male=0.2687;AF_female=0.2658;AF_raw=0.2675;AF_afr=0.3751;AF_sas=.;AF_amr=0.3585;AF_eas=0.5039;AF_nfe=0.1927;AF_fin=0.2192;AF_asj=0.2414;AF_oth=0.2169;non_topmed_AF_popmax=0.5020;non_neuro_AF_popmax=0.5039;non_cancer_AF_popmax=.;controls_AF_popmax=0.5121;Kaviar_AF=0.239111;Kaviar_AC=36967;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228494790 rs435776 G A 100 PASS AC=97;AF=0.26857;AN=214;NS=2504;DP=18993;EAS_AF=0.249;AMR_AF=0.3775;AFR_AF=0.0605;EUR_AF=0.4841;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;1000g2015aug_all=0.26857;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs435776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.455;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_rankscore=0.434;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_rankscore=0.345;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_converted_rankscore=0.185;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.005;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_converted_rankscore=0.046;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.488;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.285;MetaSVM_score=-0.983;MetaSVM_rankscore=0.343;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.033;REVEL_rankscore=0.083;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.944;CADD_raw_rankscore=0.414;CADD_phred=22.0;DANN_score=0.684;DANN_rankscore=0.084;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_rankscore=0.155;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.902;Eigen-PC-raw=-0.965;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=0.336;GERP++_RS_rankscore=0.151;phyloP100way_vertebrate=-0.596;phyloP100way_vertebrate_rankscore=0.058;phyloP20way_mammalian=-0.239;phyloP20way_mammalian_rankscore=0.092;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.364;SiPhy_29way_logOdds_rankscore=0.258;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4939;ExAC_nontcga_ALL=0.4040;ExAC_nontcga_AFR=0.1006;ExAC_nontcga_AMR=0.3340;ExAC_nontcga_EAS=0.2012;ExAC_nontcga_FIN=0.5709;ExAC_nontcga_NFE=0.4980;ExAC_nontcga_OTH=0.4311;ExAC_nontcga_SAS=0.3266;AF=0.3883;AF_popmax=0.5198;AF_male=0.3815;AF_female=0.3967;AF_raw=0.3879;AF_afr=0.1103;AF_sas=.;AF_amr=0.3747;AF_eas=0.1990;AF_nfe=0.5198;AF_fin=0.5582;AF_asj=0.4207;AF_oth=0.4779;non_topmed_AF_popmax=0.5222;non_neuro_AF_popmax=0.5200;non_cancer_AF_popmax=.;controls_AF_popmax=0.5393;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228496014 rs876180 G A 100 PASS AC=31;AF=0.213059;AN=214;NS=2504;DP=18436;EAS_AF=0.1825;AMR_AF=0.2781;AFR_AF=0.32;EUR_AF=0.161;SAS_AF=0.1074;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12669A:p.T4223T,OBSCN:NM_052843:exon47:c.G12669A:p.T4223T,OBSCN:NM_001271223:exon58:c.G15540A:p.T5180T;1000g2015aug_all=0.213059;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876180;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1772;ExAC_nontcga_ALL=0.2421;ExAC_nontcga_AFR=0.3678;ExAC_nontcga_AMR=0.4435;ExAC_nontcga_EAS=0.2233;ExAC_nontcga_FIN=0.2009;ExAC_nontcga_NFE=0.2182;ExAC_nontcga_OTH=0.2268;ExAC_nontcga_SAS=0.1396;AF=0.2186;AF_popmax=0.3443;AF_male=0.2189;AF_female=0.2182;AF_raw=0.2187;AF_afr=0.3258;AF_sas=.;AF_amr=0.3443;AF_eas=0.1750;AF_nfe=0.1706;AF_fin=0.1637;AF_asj=0.2138;AF_oth=0.1838;non_topmed_AF_popmax=0.3432;non_neuro_AF_popmax=0.3339;non_cancer_AF_popmax=.;controls_AF_popmax=0.3294;Kaviar_AF=0.192514;Kaviar_AC=29763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228497053 rs379620 A G 100 PASS AC=134;AF=0.698682;AN=214;NS=2504;DP=20425;EAS_AF=0.746;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.673;SAS_AF=0.4387;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.698682;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs379620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7519;AF_popmax=0.8239;AF_male=0.7508;AF_female=0.7532;AF_raw=0.7513;AF_afr=0.8239;AF_sas=.;AF_amr=0.7524;AF_eas=0.7040;AF_nfe=0.7142;AF_fin=0.7785;AF_asj=0.6562;AF_oth=0.7160;non_topmed_AF_popmax=0.8237;non_neuro_AF_popmax=0.8367;non_cancer_AF_popmax=.;controls_AF_popmax=0.8353;Kaviar_AF=0.135723;Kaviar_AC=20983;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228497066 rs555684032 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555684032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +1 228497286 rs56852844 C A 100 PASS AC=6;AF=0.0932508;AN=214;NS=2504;DP=20530;EAS_AF=0.3145;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0258;SAS_AF=0.0583;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0932508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56852844;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0188;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0451;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0.3420;ExAC_nontcga_FIN=0.0565;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0466;AF=0.0466;AF_popmax=0.3260;AF_male=0.0477;AF_female=0.0453;AF_raw=0.0468;AF_afr=0.0417;AF_sas=.;AF_amr=0.0130;AF_eas=0.3260;AF_nfe=0.0225;AF_fin=0.0553;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.3219;non_neuro_AF_popmax=0.3260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3286;Kaviar_AF=0.0477484;Kaviar_AC=7382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228503677 rs1150912 A G 100 PASS AC=134;AF=0.700879;AN=214;NS=2504;DP=13554;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8722;EUR_AF=0.674;SAS_AF=0.4387;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;1000g2015aug_all=0.700879;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.866;SIFT_converted_rankscore=0.026;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_converted_rankscore=0.177;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.44;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-0.21;PROVEAN_converted_rankscore=0.103;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.009;MetaSVM_score=-1.035;MetaSVM_rankscore=0.187;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.279;CADD_raw_rankscore=0.005;CADD_phred=0.001;DANN_score=0.651;DANN_rankscore=0.075;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_rankscore=0.111;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.626;Eigen-PC-raw=-1.646;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-6.7;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.125;phyloP100way_vertebrate_rankscore=0.105;phyloP20way_mammalian=-1.090;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=11.509;SiPhy_29way_logOdds_rankscore=0.495;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7056;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.8349;ExAC_nontcga_AMR=0.7608;ExAC_nontcga_EAS=0.7308;ExAC_nontcga_FIN=0.7888;ExAC_nontcga_NFE=0.7121;ExAC_nontcga_OTH=0.6947;ExAC_nontcga_SAS=0.5178;AF=0.7526;AF_popmax=0.8288;AF_male=0.7521;AF_female=0.7532;AF_raw=0.7525;AF_afr=0.8288;AF_sas=.;AF_amr=0.7512;AF_eas=0.7023;AF_nfe=0.7134;AF_fin=0.7780;AF_asj=0.6586;AF_oth=0.7153;non_topmed_AF_popmax=0.8286;non_neuro_AF_popmax=0.8413;non_cancer_AF_popmax=.;controls_AF_popmax=0.8397;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228503711 rs116266256 G A 100 PASS AC=2;AF=0.0129792;AN=214;NS=2504;DP=13705;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0045;EUR_AF=0.0298;SAS_AF=0.0215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13176A:p.E4392E,OBSCN:NM_052843:exon50:c.G13176A:p.E4392E,OBSCN:NM_001271223:exon61:c.G16047A:p.E5349E;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116266256;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0384;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0522;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0345;AF=0.0274;AF_popmax=0.0431;AF_male=0.0262;AF_female=0.0290;AF_raw=0.0274;AF_afr=0.0062;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0431;AF_fin=0.0239;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.0429;non_neuro_AF_popmax=0.0442;non_cancer_AF_popmax=.;controls_AF_popmax=0.0481;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.031577;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228503798 rs554360930 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13859;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13263A:p.T4421T,OBSCN:NM_052843:exon50:c.G13263A:p.T4421T,OBSCN:NM_001271223:exon61:c.G16134A:p.T5378T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554360930;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504373 rs150789926 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150789926;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.822e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.517e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504472 rs1188732 T C 100 PASS AC=134;AF=0.699281;AN=214;NS=2504;DP=15124;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.674;SAS_AF=0.4387;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;1000g2015aug_all=0.699281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.453;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_converted_rankscore=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.455;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=-0.89;FATHMM_converted_rankscore=0.748;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_converted_rankscore=0.966;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.048;MetaSVM_score=-1.024;MetaSVM_rankscore=0.223;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.119;REVEL_rankscore=0.336;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.304;CADD_raw_rankscore=0.022;CADD_phred=0.004;DANN_score=0.412;DANN_rankscore=0.029;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_rankscore=0.060;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.857;Eigen-PC-raw=-1.861;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.27;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=0.597;phyloP100way_vertebrate_rankscore=0.236;phyloP20way_mammalian=-0.364;phyloP20way_mammalian_rankscore=0.068;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=3.614;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7008;ExAC_nontcga_ALL=0.6935;ExAC_nontcga_AFR=0.8296;ExAC_nontcga_AMR=0.7518;ExAC_nontcga_EAS=0.7257;ExAC_nontcga_FIN=0.7761;ExAC_nontcga_NFE=0.7063;ExAC_nontcga_OTH=0.6516;ExAC_nontcga_SAS=0.5030;AF=0.7515;AF_popmax=0.8239;AF_male=0.7504;AF_female=0.7530;AF_raw=0.7514;AF_afr=0.8239;AF_sas=.;AF_amr=0.7518;AF_eas=0.7049;AF_nfe=0.7136;AF_fin=0.7781;AF_asj=0.6562;AF_oth=0.7177;non_topmed_AF_popmax=0.8236;non_neuro_AF_popmax=0.8364;non_cancer_AF_popmax=.;controls_AF_popmax=0.8353;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228504507 rs114932694 G T 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=15205;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13383T:p.V4461V,OBSCN:NM_052843:exon51:c.G13383T:p.V4461V,OBSCN:NM_001271223:exon62:c.G16254T:p.V5418V;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114932694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0203;ExAC_nontcga_ALL=0.0170;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0340;ExAC_nontcga_NFE=0.0265;ExAC_nontcga_OTH=0.0156;ExAC_nontcga_SAS=0.0020;AF=0.0133;AF_popmax=0.0174;AF_male=0.0127;AF_female=0.0140;AF_raw=0.0134;AF_afr=0.0040;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0219;AF_asj=0.0207;AF_oth=0.0193;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0137385;Kaviar_AC=2124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504591 rs61825301 C A 100 PASS AC=31;AF=0.145367;AN=214;NS=2504;DP=14096;EAS_AF=0.1518;AMR_AF=0.2349;AFR_AF=0.121;EUR_AF=0.159;SAS_AF=0.0941;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13467A:p.H4489Q,OBSCN:NM_052843:exon51:c.C13467A:p.H4489Q,OBSCN:NM_001271223:exon62:c.C16338A:p.H5446Q;1000g2015aug_all=0.145367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825301;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.835;Polyphen2_HVAR_rankscore=0.639;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=P;MutationAssessor_score=2.165;MutationAssessor_score_rankscore=0.608;MutationAssessor_pred=M;FATHMM_score=-1.06;FATHMM_converted_rankscore=0.768;FATHMM_pred=T;PROVEAN_score=-3.51;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.228;VEST3_rankscore=0.418;MetaSVM_score=-1.041;MetaSVM_rankscore=0.169;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.309;REVEL_rankscore=0.634;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.476;CADD_raw_rankscore=0.240;CADD_phred=13.19;DANN_score=0.670;DANN_rankscore=0.080;fathmm-MKL_coding_score=0.134;fathmm-MKL_coding_rankscore=0.176;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.564;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.093;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.187;GERP++_RS_rankscore=0.143;phyloP100way_vertebrate=-0.656;phyloP100way_vertebrate_rankscore=0.054;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.259;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=9.788;SiPhy_29way_logOdds_rankscore=0.397;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1672;ExAC_nontcga_ALL=0.2447;ExAC_nontcga_AFR=0.2283;ExAC_nontcga_AMR=0.4364;ExAC_nontcga_EAS=0.2484;ExAC_nontcga_FIN=0.2704;ExAC_nontcga_NFE=0.2717;ExAC_nontcga_OTH=0.25;ExAC_nontcga_SAS=0.1270;AF=0.1680;AF_popmax=0.2889;AF_male=0.1660;AF_female=0.1706;AF_raw=0.1683;AF_afr=0.1631;AF_sas=.;AF_amr=0.2889;AF_eas=0.1347;AF_nfe=0.1683;AF_fin=0.1616;AF_asj=0.1966;AF_oth=0.1685;non_topmed_AF_popmax=0.2864;non_neuro_AF_popmax=0.2852;non_cancer_AF_popmax=.;controls_AF_popmax=0.2317;Kaviar_AF=0.142967;Kaviar_AC=22103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228504669 rs61825302 G A 100 PASS AC=31;AF=0.145567;AN=214;NS=2504;DP=13931;EAS_AF=0.1518;AMR_AF=0.2349;AFR_AF=0.1218;EUR_AF=0.159;SAS_AF=0.0941;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13545A:p.A4515A,OBSCN:NM_052843:exon51:c.G13545A:p.A4515A,OBSCN:NM_001271223:exon62:c.G16416A:p.A5472A;1000g2015aug_all=0.145567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825302;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1453;ExAC_nontcga_ALL=0.1650;ExAC_nontcga_AFR=0.2004;ExAC_nontcga_AMR=0.32;ExAC_nontcga_EAS=0.1235;ExAC_nontcga_FIN=0.2;ExAC_nontcga_NFE=0.2176;ExAC_nontcga_OTH=0.2115;ExAC_nontcga_SAS=0.1299;AF=0.1732;AF_popmax=0.2938;AF_male=0.1707;AF_female=0.1765;AF_raw=0.1685;AF_afr=0.1712;AF_sas=.;AF_amr=0.2938;AF_eas=0.1373;AF_nfe=0.1727;AF_fin=0.1652;AF_asj=0.1979;AF_oth=0.1733;non_topmed_AF_popmax=0.2907;non_neuro_AF_popmax=0.2894;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0800054;Kaviar_AC=12369;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228504670 rs11810627 C T 100 PASS AC=97;AF=0.330272;AN=214;NS=2504;DP=13971;EAS_AF=0.249;AMR_AF=0.4006;AFR_AF=0.2791;EUR_AF=0.4861;SAS_AF=0.273;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;1000g2015aug_all=0.330272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11810627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_converted_rankscore=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_rankscore=0.224;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.198;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-1.07;FATHMM_converted_rankscore=0.770;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.449;MetaSVM_score=-0.946;MetaSVM_rankscore=0.417;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.693;CADD_raw_rankscore=0.501;CADD_phred=23.3;DANN_score=0.809;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_rankscore=0.305;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.684;Eigen-PC-raw=-0.698;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.095;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-0.971;GERP++_RS_rankscore=0.097;phyloP100way_vertebrate=2.093;phyloP100way_vertebrate_rankscore=0.411;phyloP20way_mammalian=0.035;phyloP20way_mammalian_rankscore=0.151;phastCons100way_vertebrate=0.983;phastCons100way_vertebrate_rankscore=0.354;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=10.362;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Fibronectin_type_III|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4398;ExAC_nontcga_ALL=0.4139;ExAC_nontcga_AFR=0.3416;ExAC_nontcga_AMR=0.3421;ExAC_nontcga_EAS=0.2126;ExAC_nontcga_FIN=0.6111;ExAC_nontcga_NFE=0.4984;ExAC_nontcga_OTH=0.4545;ExAC_nontcga_SAS=0.3816;AF=0.4421;AF_popmax=0.5220;AF_male=0.4379;AF_female=0.4474;AF_raw=0.4362;AF_afr=0.2912;AF_sas=.;AF_amr=0.3830;AF_eas=0.2018;AF_nfe=0.5220;AF_fin=0.5621;AF_asj=0.4207;AF_oth=0.4935;non_topmed_AF_popmax=0.5254;non_neuro_AF_popmax=0.5222;non_cancer_AF_popmax=.;controls_AF_popmax=0.5435;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228504701 rs111792077 G GCTCC 100 PASS AC=134;AF=0.699081;AN=214;NS=2504;DP=14096;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8654;EUR_AF=0.674;SAS_AF=0.4387;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.699081;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111792077;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6286;ExAC_nontcga_ALL=0.6097;ExAC_nontcga_AFR=0.8455;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.6413;ExAC_nontcga_FIN=0.3;ExAC_nontcga_NFE=0.7038;ExAC_nontcga_OTH=0.7353;ExAC_nontcga_SAS=0.5412;AF=0.7497;AF_popmax=0.8225;AF_male=0.7488;AF_female=0.7509;AF_raw=0.7496;AF_afr=0.8225;AF_sas=.;AF_amr=0.7524;AF_eas=0.6952;AF_nfe=0.7119;AF_fin=0.7774;AF_asj=0.6586;AF_oth=0.7149;non_topmed_AF_popmax=0.8223;non_neuro_AF_popmax=0.8340;non_cancer_AF_popmax=.;controls_AF_popmax=0.8335;Kaviar_AF=0.0302066;Kaviar_AC=4670;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505204 rs4653942 G A 100 PASS AC=37;AF=0.315296;AN=214;NS=2504;DP=15262;EAS_AF=0.499;AMR_AF=0.2954;AFR_AF=0.3941;EUR_AF=0.1869;SAS_AF=0.1656;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13601A:p.R4534H,OBSCN:NM_052843:exon52:c.G13601A:p.R4534H,OBSCN:NM_001271223:exon63:c.G16472A:p.R5491H;1000g2015aug_all=0.315296;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653942;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.702;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.295;Polyphen2_HVAR_rankscore=0.525;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_converted_rankscore=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.445;MutationAssessor_score_rankscore=0.128;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.214;MetaSVM_score=-0.932;MetaSVM_rankscore=0.438;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.357;CADD_raw_rankscore=0.462;CADD_phred=22.9;DANN_score=0.953;DANN_rankscore=0.261;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.081;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.422;Eigen-PC-raw=-0.553;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.110;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.36;GERP++_RS_rankscore=0.281;phyloP100way_vertebrate=1.069;phyloP100way_vertebrate_rankscore=0.300;phyloP20way_mammalian=0.026;phyloP20way_mammalian_rankscore=0.148;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=2.871;SiPhy_29way_logOdds_rankscore=0.052;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1944;ExAC_nontcga_ALL=0.2650;ExAC_nontcga_AFR=0.4106;ExAC_nontcga_AMR=0.4043;ExAC_nontcga_EAS=0.5268;ExAC_nontcga_FIN=0.2177;ExAC_nontcga_NFE=0.2105;ExAC_nontcga_OTH=0.2259;ExAC_nontcga_SAS=0.1699;AF=0.2717;AF_popmax=0.5026;AF_male=0.2736;AF_female=0.2693;AF_raw=0.2723;AF_afr=0.3909;AF_sas=.;AF_amr=0.3605;AF_eas=0.5026;AF_nfe=0.1926;AF_fin=0.2191;AF_asj=0.2396;AF_oth=0.2161;non_topmed_AF_popmax=0.5007;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.5110;Kaviar_AF=0.242164;Kaviar_AC=37439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228505518 rs146099527 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16701;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146099527;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0035;AF_popmax=0.0056;AF_male=0.0032;AF_female=0.0038;AF_raw=0.0035;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0036;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505668 rs1188729 C G 100 PASS AC=134;AF=0.699281;AN=214;NS=2504;DP=18143;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.674;SAS_AF=0.4387;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;1000g2015aug_all=0.699281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_converted_rankscore=0.165;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.655;MutationAssessor_score_rankscore=0.021;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.118;MetaSVM_score=-0.986;MetaSVM_rankscore=0.335;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.755;CADD_raw_rankscore=0.166;CADD_phred=9.181;DANN_score=0.322;DANN_rankscore=0.018;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.005;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.891;Eigen-PC-raw=-0.812;GenoCanyon_score=0.047;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.58;GERP++_RS_rankscore=0.299;phyloP100way_vertebrate=0.832;phyloP100way_vertebrate_rankscore=0.270;phyloP20way_mammalian=0.037;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.115;phastCons20way_mammalian_rankscore=0.194;SiPhy_29way_logOdds=7.934;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7016;ExAC_nontcga_ALL=0.6926;ExAC_nontcga_AFR=0.8289;ExAC_nontcga_AMR=0.7498;ExAC_nontcga_EAS=0.7276;ExAC_nontcga_FIN=0.7731;ExAC_nontcga_NFE=0.7049;ExAC_nontcga_OTH=0.6507;ExAC_nontcga_SAS=0.4955;AF=0.7511;AF_popmax=0.8232;AF_male=0.7501;AF_female=0.7523;AF_raw=0.7510;AF_afr=0.8232;AF_sas=.;AF_amr=0.7524;AF_eas=0.7027;AF_nfe=0.7136;AF_fin=0.7784;AF_asj=0.6586;AF_oth=0.7127;non_topmed_AF_popmax=0.8229;non_neuro_AF_popmax=0.8365;non_cancer_AF_popmax=.;controls_AF_popmax=0.8357;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505699 rs1188728 T C 100 PASS AC=134;AF=0.705871;AN=214;NS=2504;DP=17728;EAS_AF=0.748;AMR_AF=0.719;AFR_AF=0.8888;EUR_AF=0.674;SAS_AF=0.4387;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;1000g2015aug_all=0.705871;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7008;ExAC_nontcga_ALL=0.6956;ExAC_nontcga_AFR=0.8526;ExAC_nontcga_AMR=0.7511;ExAC_nontcga_EAS=0.7283;ExAC_nontcga_FIN=0.7775;ExAC_nontcga_NFE=0.7061;ExAC_nontcga_OTH=0.6522;ExAC_nontcga_SAS=0.4956;AF=0.7586;AF_popmax=0.8499;AF_male=0.7581;AF_female=0.7592;AF_raw=0.7585;AF_afr=0.8499;AF_sas=.;AF_amr=0.7535;AF_eas=0.7031;AF_nfe=0.7135;AF_fin=0.7782;AF_asj=0.6586;AF_oth=0.7149;non_topmed_AF_popmax=0.8495;non_neuro_AF_popmax=0.8617;non_cancer_AF_popmax=.;controls_AF_popmax=0.8595;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505725 rs200399314 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17819;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.A13982C:p.E4661A,OBSCN:NM_052843:exon53:c.A13982C:p.E4661A,OBSCN:NM_001271223:exon64:c.A16853C:p.E5618A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200399314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=2.115;MutationAssessor_score_rankscore=0.589;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.331;VEST3_rankscore=0.462;MetaSVM_score=-0.164;MetaSVM_rankscore=0.786;MetaSVM_pred=T;MetaLR_score=0.430;MetaLR_rankscore=0.772;MetaLR_pred=T;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.399;REVEL_rankscore=0.717;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.123;CADD_raw_rankscore=0.435;CADD_phred=22.6;DANN_score=0.982;DANN_rankscore=0.390;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.610;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.379;Eigen-PC-raw=0.286;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.51;GERP++_RS_rankscore=0.544;phyloP100way_vertebrate=1.593;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=1.026;phyloP20way_mammalian_rankscore=0.645;phastCons100way_vertebrate=0.445;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=13.677;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0138;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505727 rs3795800 C T 100 PASS AC=6;AF=0.086262;AN=214;NS=2504;DP=17760;EAS_AF=0.3165;AMR_AF=0.0115;AFR_AF=0.0166;EUR_AF=0.0258;SAS_AF=0.0583;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13984T:p.R4662C,OBSCN:NM_052843:exon53:c.C13984T:p.R4662C,OBSCN:NM_001271223:exon64:c.C16855T:p.R5619C;1000g2015aug_all=0.086262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795800;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.05;SIFT_converted_rankscore=0.395;SIFT_pred=D;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.792;LRT_converted_rankscore=0.067;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.226;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=N;VEST3_score=0.102;VEST3_rankscore=0.299;MetaSVM_score=-1.035;MetaSVM_rankscore=0.189;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.095;REVEL_rankscore=0.279;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.382;CADD_raw_rankscore=0.348;CADD_phred=18.70;DANN_score=0.769;DANN_rankscore=0.113;fathmm-MKL_coding_score=0.047;fathmm-MKL_coding_rankscore=0.103;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.678;Eigen-PC-raw=-0.708;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.197;GERP++_RS_rankscore=0.144;phyloP100way_vertebrate=-0.204;phyloP100way_vertebrate_rankscore=0.093;phyloP20way_mammalian=-1.171;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=3.625;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0183;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0.3416;ExAC_nontcga_FIN=0.0564;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0401;AF_popmax=0.3280;AF_male=0.0413;AF_female=0.0387;AF_raw=0.0402;AF_afr=0.0187;AF_sas=.;AF_amr=0.0130;AF_eas=0.3280;AF_nfe=0.0223;AF_fin=0.0552;AF_asj=0.0241;AF_oth=0.0303;non_topmed_AF_popmax=0.3236;non_neuro_AF_popmax=0.3280;non_cancer_AF_popmax=.;controls_AF_popmax=0.3282;Kaviar_AF=0.0456721;Kaviar_AC=7061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505739 rs3795801 G A 100 PASS AC=31;AF=0.173123;AN=214;NS=2504;DP=18063;EAS_AF=0.1518;AMR_AF=0.2435;AFR_AF=0.2216;EUR_AF=0.159;SAS_AF=0.0941;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.G13996A:p.G4666S,OBSCN:NM_052843:exon53:c.G13996A:p.G4666S,OBSCN:NM_001271223:exon64:c.G16867A:p.G5623S;1000g2015aug_all=0.173123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.385;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_converted_rankscore=0.067;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.325;MutationAssessor_score_rankscore=0.104;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_converted_rankscore=0.488;PROVEAN_pred=N;VEST3_score=0.011;VEST3_rankscore=0.022;MetaSVM_score=-0.951;MetaSVM_rankscore=0.409;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.166;REVEL_rankscore=0.431;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.313;CADD_raw_rankscore=0.124;CADD_phred=5.818;DANN_score=0.750;DANN_rankscore=0.105;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.023;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.612;Eigen-PC-raw=-1.665;GenoCanyon_score=0.311;GenoCanyon_score_rankscore=0.193;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.37;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=0.214;phyloP100way_vertebrate_rankscore=0.172;phyloP20way_mammalian=-1.100;phyloP20way_mammalian_rankscore=0.018;phastCons100way_vertebrate=0.003;phastCons100way_vertebrate_rankscore=0.159;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=20.253;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1735;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.2393;ExAC_nontcga_AMR=0.3215;ExAC_nontcga_EAS=0.1539;ExAC_nontcga_FIN=0.1498;ExAC_nontcga_NFE=0.1817;ExAC_nontcga_OTH=0.1812;ExAC_nontcga_SAS=0.1042;AF=0.1914;AF_popmax=0.2972;AF_male=0.1894;AF_female=0.1940;AF_raw=0.1919;AF_afr=0.2463;AF_sas=.;AF_amr=0.2972;AF_eas=0.1345;AF_nfe=0.1683;AF_fin=0.1615;AF_asj=0.1966;AF_oth=0.1740;non_topmed_AF_popmax=0.2938;non_neuro_AF_popmax=0.2942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2426;Kaviar_AF=0.17992;Kaviar_AC=27816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228505925 rs61825304 G A 100 PASS AC=4;AF=0.00519169;AN=214;NS=2504;DP=17305;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.001;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0119;AF_popmax=0.0174;AF_male=0.0116;AF_female=0.0123;AF_raw=0.0119;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0111;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0176;non_cancer_AF_popmax=.;controls_AF_popmax=0.0202;Kaviar_AF=0.0021086;Kaviar_AC=326;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506661 rs41305126 G A 100 PASS AC=6;AF=0.0107827;AN=214;NS=2504;DP=18553;EAS_AF=0.001;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.G14208A:p.L4736L,OBSCN:NM_052843:exon54:c.G14208A:p.L4736L,OBSCN:NM_001271223:exon65:c.G17079A:p.L5693L;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0230;ExAC_nontcga_ALL=0.0446;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0695;ExAC_nontcga_OTH=0.0667;ExAC_nontcga_SAS=0.0207;AF=0.0129;AF_popmax=0.0185;AF_male=0.0124;AF_female=0.0136;AF_raw=0.0130;AF_afr=0.0045;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0104;AF_asj=0.0345;AF_oth=0.0212;non_topmed_AF_popmax=0.0189;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0192;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506768 rs142983293 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20655;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.C14315T:p.P4772L,OBSCN:NM_052843:exon54:c.C14315T:p.P4772L,OBSCN:NM_001271223:exon65:c.C17186T:p.P5729L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142983293;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.067;Polyphen2_HDIV_rankscore=0.246;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.214;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_converted_rankscore=0.212;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-1.45;PROVEAN_converted_rankscore=0.356;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.230;MetaSVM_score=-1.059;MetaSVM_rankscore=0.120;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.301;MetaLR_pred=T;M-CAP_score=0.038;M-CAP_rankscore=0.581;M-CAP_pred=D;REVEL_score=0.019;REVEL_rankscore=0.035;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.693;CADD_raw_rankscore=0.265;CADD_phred=14.37;DANN_score=0.930;DANN_rankscore=0.220;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.881;Eigen-PC-raw=-0.816;GenoCanyon_score=0.028;GenoCanyon_score_rankscore=0.138;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.13;GERP++_RS_rankscore=0.263;phyloP100way_vertebrate=-0.365;phyloP100way_vertebrate_rankscore=0.076;phyloP20way_mammalian=-0.561;phyloP20way_mammalian_rankscore=0.047;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.033;phastCons20way_mammalian_rankscore=0.150;SiPhy_29way_logOdds=4.527;SiPhy_29way_logOdds_rankscore=0.113;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0007;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506965 rs147741962 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147741962;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228509367 rs367752269 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19533;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.G14825A:p.R4942Q,OBSCN:NM_052843:exon55:c.G14825A:p.R4942Q,OBSCN:NM_001271223:exon66:c.G17696A:p.R5899Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367752269;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.413;Polyphen2_HDIV_rankscore=0.333;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_rankscore=0.264;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.469;LRT_pred=D;MutationTaster_score=0.507;MutationTaster_converted_rankscore=0.340;MutationTaster_pred=D;MutationAssessor_score=1.72;MutationAssessor_score_rankscore=0.446;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.17;PROVEAN_converted_rankscore=0.490;PROVEAN_pred=N;VEST3_score=0.193;VEST3_rankscore=0.441;MetaSVM_score=-0.907;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.335;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.644;CADD_raw_rankscore=0.911;CADD_phred=32;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.899;fathmm-MKL_coding_rankscore=0.503;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.029;Eigen-PC-raw=0.122;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.102;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=5.090;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.490;phastCons20way_mammalian_rankscore=0.269;SiPhy_29way_logOdds=10.265;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507127|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228509427 rs373610 A G 100 PASS AC=134;AF=0.684704;AN=214;NS=2504;DP=19311;EAS_AF=0.7044;AMR_AF=0.6758;AFR_AF=0.8684;EUR_AF=0.674;SAS_AF=0.4335;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;1000g2015aug_all=0.684704;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.028;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_converted_rankscore=0.189;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.095;MutationAssessor_score_rankscore=0.275;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_converted_rankscore=0.100;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.062;MetaSVM_score=-1.006;MetaSVM_rankscore=0.281;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.126;REVEL_rankscore=0.352;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.311;CADD_raw_rankscore=0.068;CADD_phred=0.626;DANN_score=0.720;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_rankscore=0.230;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.810;Eigen-PC-raw=-0.677;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=1.91;GERP++_RS_rankscore=0.247;phyloP100way_vertebrate=2.138;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=-1.014;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.970;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.036;phastCons20way_mammalian_rankscore=0.153;SiPhy_29way_logOdds=4.77;SiPhy_29way_logOdds_rankscore=0.124;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6968;ExAC_nontcga_ALL=0.6841;ExAC_nontcga_AFR=0.8295;ExAC_nontcga_AMR=0.7041;ExAC_nontcga_EAS=0.6851;ExAC_nontcga_FIN=0.7721;ExAC_nontcga_NFE=0.7041;ExAC_nontcga_OTH=0.6478;ExAC_nontcga_SAS=0.4943;AF=0.7485;AF_popmax=0.8242;AF_male=0.7469;AF_female=0.7505;AF_raw=0.7482;AF_afr=0.8242;AF_sas=.;AF_amr=0.7087;AF_eas=0.6677;AF_nfe=0.7137;AF_fin=0.7782;AF_asj=0.6586;AF_oth=0.7114;non_topmed_AF_popmax=0.8239;non_neuro_AF_popmax=0.8368;non_cancer_AF_popmax=.;controls_AF_popmax=0.8357;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507127|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228511197 rs560771726 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20140;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon56:c.G15542A:p.G5181D,OBSCN:NM_052843:exon56:c.G15542A:p.G5181D,OBSCN:NM_001271223:exon67:c.G18413A:p.G6138D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560771726;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.297;SIFT_converted_rankscore=0.158;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.513;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.639;PROVEAN_pred=D;VEST3_score=0.451;VEST3_rankscore=0.540;MetaSVM_score=-0.684;MetaSVM_rankscore=0.612;MetaSVM_pred=T;MetaLR_score=0.307;MetaLR_rankscore=0.678;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.417;M-CAP_pred=T;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=0.418;MutPred_rankscore=0.459;CADD_raw=5.134;CADD_raw_rankscore=0.692;CADD_phred=25.4;DANN_score=0.995;DANN_rankscore=0.678;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.591;Eigen-PC-raw=0.621;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=7.745;phyloP100way_vertebrate_rankscore=0.838;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=18.645;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.039834;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228511240 rs183960364 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20054;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon56:c.C15585T:p.G5195G,OBSCN:NM_052843:exon56:c.C15585T:p.G5195G,OBSCN:NM_001271223:exon67:c.C18456T:p.G6152G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183960364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0019;AF=3.187e-05;AF_popmax=6.485e-05;AF_male=0;AF_female=7.186e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.667258;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228520538 rs368297957 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18862;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368297957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.107e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0010;AF_male=0.0005;AF_female=0.0009;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228520880 rs416564 C T 100 PASS AC=86;AF=0.341853;AN=214;NS=2504;DP=17066;EAS_AF=0.249;AMR_AF=0.389;AFR_AF=0.4433;EUR_AF=0.4215;SAS_AF=0.1851;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.341853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs416564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4158;ExAC_nontcga_ALL=0.3930;ExAC_nontcga_AFR=0.4183;ExAC_nontcga_AMR=0.3699;ExAC_nontcga_EAS=0.2272;ExAC_nontcga_FIN=0.5008;ExAC_nontcga_NFE=0.4582;ExAC_nontcga_OTH=0.3728;ExAC_nontcga_SAS=0.2548;AF=0.4188;AF_popmax=0.4468;AF_male=0.4185;AF_female=0.4191;AF_raw=0.4189;AF_afr=0.4006;AF_sas=.;AF_amr=0.3641;AF_eas=0.1996;AF_nfe=0.4468;AF_fin=0.4609;AF_asj=0.3472;AF_oth=0.4099;non_topmed_AF_popmax=0.4456;non_neuro_AF_popmax=0.4469;non_cancer_AF_popmax=.;controls_AF_popmax=0.4550;Kaviar_AF=0.320293;Kaviar_AC=49518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228520973 rs369909 C G 100 PASS AC=86;AF=0.335064;AN=214;NS=2504;DP=17947;EAS_AF=0.249;AMR_AF=0.3847;AFR_AF=0.4183;EUR_AF=0.4205;SAS_AF=0.1881;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;1000g2015aug_all=0.335064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369909;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.179;SIFT_converted_rankscore=0.220;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.205;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.220;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_converted_rankscore=0.318;LRT_pred=N;MutationTaster_score=0.936;MutationTaster_converted_rankscore=0.288;MutationTaster_pred=P;MutationAssessor_score=0.19;MutationAssessor_score_rankscore=0.091;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.164;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.159;MetaSVM_score=-0.973;MetaSVM_rankscore=0.367;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.995;CADD_raw_rankscore=0.301;CADD_phred=16.18;DANN_score=0.992;DANN_rankscore=0.548;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_rankscore=0.353;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.342;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.067;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=1.482;phyloP100way_vertebrate_rankscore=0.349;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.164;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000154358.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4179;ExAC_nontcga_ALL=0.3848;ExAC_nontcga_AFR=0.4095;ExAC_nontcga_AMR=0.3817;ExAC_nontcga_EAS=0.2566;ExAC_nontcga_FIN=0.5105;ExAC_nontcga_NFE=0.4687;ExAC_nontcga_OTH=0.3571;ExAC_nontcga_SAS=0.2621;AF=0.4111;AF_popmax=0.4465;AF_male=0.4104;AF_female=0.4119;AF_raw=0.4113;AF_afr=0.3731;AF_sas=.;AF_amr=0.3632;AF_eas=0.1996;AF_nfe=0.4465;AF_fin=0.4614;AF_asj=0.3472;AF_oth=0.4108;non_topmed_AF_popmax=0.4456;non_neuro_AF_popmax=0.4467;non_cancer_AF_popmax=.;controls_AF_popmax=0.4550;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228521002 rs56025664 C A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17422;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15834A:p.A5278A,OBSCN:NM_052843:exon58:c.C15834A:p.A5278A,OBSCN:NM_001271223:exon69:c.C18705A:p.A6235A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56025664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.076251;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228522357 rs75294246 G A 100 PASS AC=11;AF=0.00938498;AN=214;NS=2504;DP=14819;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0308;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75294246;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0143;AF_popmax=0.0228;AF_male=0.0142;AF_female=0.0144;AF_raw=0.0143;AF_afr=0.0053;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0095;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0197;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.019018;Kaviar_AC=495;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228522483 rs11581192 C T 100 PASS AC=5;AF=0.034345;AN=214;NS=2504;DP=14555;EAS_AF=0.0506;AMR_AF=0.0216;AFR_AF=0.0303;EUR_AF=0.0328;SAS_AF=0.0337;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.034345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11581192;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0328;ExAC_nontcga_ALL=0.0417;ExAC_nontcga_AFR=0.0387;ExAC_nontcga_AMR=0.0487;ExAC_nontcga_EAS=0.0597;ExAC_nontcga_FIN=0.1579;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0351;ExAC_nontcga_SAS=0.0345;AF=0.0424;AF_popmax=0.0478;AF_male=0.0427;AF_female=0.0419;AF_raw=0.0423;AF_afr=0.0478;AF_sas=.;AF_amr=0.0212;AF_eas=0.0391;AF_nfe=0.0370;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0396;non_topmed_AF_popmax=0.0477;non_neuro_AF_popmax=0.0514;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0188807;Kaviar_AC=2919;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228522509 rs190863029 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16579;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190863029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0045;dbscSNV_RF_SCORE=0.144;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.434e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228523005 rs60787858 T TG 100 PASS AC=100;AF=0.469449;AN=214;NS=2504;DP=3367;EAS_AF=0.5734;AMR_AF=0.3631;AFR_AF=0.4871;EUR_AF=0.499;SAS_AF=0.3834;AA=GGGGGG|GGGGG|GGGGGG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.469449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397947123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4253;ExAC_nontcga_ALL=0.3947;ExAC_nontcga_AFR=0.4419;ExAC_nontcga_AMR=0.375;ExAC_nontcga_EAS=0.5;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.4422;ExAC_nontcga_OTH=0.3333;ExAC_nontcga_SAS=0.3757;AF=0.6489;AF_popmax=0.6602;AF_male=0.6493;AF_female=0.6483;AF_raw=0.5086;AF_afr=0.6148;AF_sas=.;AF_amr=0.5465;AF_eas=0.6469;AF_nfe=0.6602;AF_fin=0.6955;AF_asj=0.6149;AF_oth=0.6443;non_topmed_AF_popmax=0.659;non_neuro_AF_popmax=0.6628;non_cancer_AF_popmax=.;controls_AF_popmax=0.6638;Kaviar_AF=0.0016947;Kaviar_AC=262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228523042 rs556634057;rs555487385 T G,TG 100 PASS AC=2,86;AF=0.00978435,0.344449;AN=214;NS=2504;DP=2842;EAS_AF=0.003,0.249;AMR_AF=0.0043,0.3876;AFR_AF=0.003,0.4516;EUR_AF=0.002,0.4205;SAS_AF=0.0378,0.1892;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556634057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.344449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555487385;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4471;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5048;AF_popmax=0.5166;AF_male=0.5021;AF_female=0.5083;AF_raw=0.4030;AF_afr=0.5050;AF_sas=.;AF_amr=0.4446;AF_eas=0.2525;AF_nfe=0.5166;AF_fin=0.5631;AF_asj=0.4485;AF_oth=0.4883;non_topmed_AF_popmax=0.5112;non_neuro_AF_popmax=0.5201;non_cancer_AF_popmax=.;controls_AF_popmax=0.5197;Kaviar_AF=0.0018499;Kaviar_AC=286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|2 0|0 0|0 2|2 2|0 0|0 2|2 0|0 0|2 2|0 0|2 2|0 2|2 2|0 0|0 0|2 0|2 2|0 0|2 2|2 0|2 2|2 0|0 2|2 0|0 0|0 0|2 2|0 0|2 0|2 2|2 0|2 2|0 0|0 2|0 0|2 0|0 0|0 0|0 2|2 0|0 0|0 0|0 2|0 2|2 0|0 0|0 2|0 0|0 0|2 0|1 2|2 0|0 0|2 2|0 2|0 0|2 0|2 0|2 0|2 0|0 2|0 2|2 0|0 0|0 0|0 0|0 0|2 0|0 0|2 0|0 0|2 0|0 0|0 2|0 2|0 0|0 0|2 2|0 0|2 0|2 2|0 0|2 2|0 0|2 0|2 2|0 2|0 0|0 0|0 2|0 2|1 0|2 2|2 2|2 0|0 0|2 0|0 0|2 2|0 0|2 0|0 2|0 2|0 0|2 2|2 0|0 +1 228523412 rs12061733 G A 100 PASS AC=17;AF=0.126797;AN=214;NS=2504;DP=15137;EAS_AF=0.3155;AMR_AF=0.0403;AFR_AF=0.0424;EUR_AF=0.0924;SAS_AF=0.1431;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12061733;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1001;AF_popmax=0.3293;AF_male=0.0983;AF_female=0.1022;AF_raw=0.1004;AF_afr=0.0501;AF_sas=.;AF_amr=0.0413;AF_eas=0.3293;AF_nfe=0.0953;AF_fin=0.1529;AF_asj=0.1;AF_oth=0.1151;non_topmed_AF_popmax=0.325;non_neuro_AF_popmax=0.3293;non_cancer_AF_popmax=.;controls_AF_popmax=0.3308;Kaviar_AF=0.0182921;Kaviar_AC=2828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228523442 rs1684868 T C 100 PASS AC=103;AF=0.478435;AN=214;NS=2504;DP=16479;EAS_AF=0.5655;AMR_AF=0.428;AFR_AF=0.4985;EUR_AF=0.5129;SAS_AF=0.362;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.478435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1684868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5171;ExAC_nontcga_ALL=0.4857;ExAC_nontcga_AFR=0.4665;ExAC_nontcga_AMR=0.3504;ExAC_nontcga_EAS=0.5435;ExAC_nontcga_FIN=0.6188;ExAC_nontcga_NFE=0.5191;ExAC_nontcga_OTH=0.4680;ExAC_nontcga_SAS=0.3969;AF=0.5220;AF_popmax=0.5398;AF_male=0.5199;AF_female=0.5246;AF_raw=0.5222;AF_afr=0.4665;AF_sas=.;AF_amr=0.4043;AF_eas=0.5251;AF_nfe=0.5398;AF_fin=0.6139;AF_asj=0.4379;AF_oth=0.5294;non_topmed_AF_popmax=0.5440;non_neuro_AF_popmax=0.5404;non_cancer_AF_popmax=.;controls_AF_popmax=0.5666;Kaviar_AF=0.466288;Kaviar_AC=72089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228523447 rs10799473 T C 100 PASS AC=175;AF=0.813498;AN=214;NS=2504;DP=16748;EAS_AF=0.7669;AMR_AF=0.7752;AFR_AF=0.9871;EUR_AF=0.829;SAS_AF=0.638;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.813498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10799473;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8251;ExAC_nontcga_ALL=0.8050;ExAC_nontcga_AFR=0.9712;ExAC_nontcga_AMR=0.7788;ExAC_nontcga_EAS=0.7648;ExAC_nontcga_FIN=0.8227;ExAC_nontcga_NFE=0.8269;ExAC_nontcga_OTH=0.7849;ExAC_nontcga_SAS=0.6775;AF=0.8636;AF_popmax=0.9653;AF_male=0.8632;AF_female=0.8641;AF_raw=0.8633;AF_afr=0.9653;AF_sas=.;AF_amr=0.8132;AF_eas=0.7648;AF_nfe=0.8291;AF_fin=0.8326;AF_asj=0.8483;AF_oth=0.8217;non_topmed_AF_popmax=0.9654;non_neuro_AF_popmax=0.9698;non_cancer_AF_popmax=.;controls_AF_popmax=0.9716;Kaviar_AF=0.0071797;Kaviar_AC=1110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 +1 228523448 rs1757161 G A 100 PASS AC=86;AF=0.352636;AN=214;NS=2504;DP=16844;EAS_AF=0.25;AMR_AF=0.3876;AFR_AF=0.4599;EUR_AF=0.4205;SAS_AF=0.2188;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757161;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3968;ExAC_nontcga_ALL=0.3728;ExAC_nontcga_AFR=0.4157;ExAC_nontcga_AMR=0.3159;ExAC_nontcga_EAS=0.2023;ExAC_nontcga_FIN=0.4599;ExAC_nontcga_NFE=0.4258;ExAC_nontcga_OTH=0.3488;ExAC_nontcga_SAS=0.2613;AF=0.4220;AF_popmax=0.4443;AF_male=0.4215;AF_female=0.4226;AF_raw=0.4224;AF_afr=0.4176;AF_sas=.;AF_amr=0.3617;AF_eas=0.1956;AF_nfe=0.4443;AF_fin=0.4605;AF_asj=0.3379;AF_oth=0.4134;non_topmed_AF_popmax=0.4436;non_neuro_AF_popmax=0.4447;non_cancer_AF_popmax=.;controls_AF_popmax=0.4551;Kaviar_AF=0.347027;Kaviar_AC=53651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228523596 rs148906235 G A 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=17605;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148906235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 228523618 rs1757160 G A 100 PASS AC=103;AF=0.474241;AN=214;NS=2504;DP=16592;EAS_AF=0.5655;AMR_AF=0.4265;AFR_AF=0.4834;EUR_AF=0.5129;SAS_AF=0.362;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.474241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757160;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5195;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5185;AF_popmax=0.5422;AF_male=0.5169;AF_female=0.5205;AF_raw=0.5187;AF_afr=0.4494;AF_sas=.;AF_amr=0.4017;AF_eas=0.5291;AF_nfe=0.5422;AF_fin=0.6137;AF_asj=0.4410;AF_oth=0.5285;non_topmed_AF_popmax=0.5464;non_neuro_AF_popmax=0.5429;non_cancer_AF_popmax=.;controls_AF_popmax=0.5676;Kaviar_AF=0.0982976;Kaviar_AC=15197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228523866 rs143580296 C G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=17880;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143580296;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0016;AF=0.0018;AF_popmax=0.0023;AF_male=0.0022;AF_female=0.0012;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0.0276;AF_oth=0.0037;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228524642 rs56063628 T C 100 PASS AC=5;AF=0.0353435;AN=214;NS=2504;DP=19297;EAS_AF=0.0546;AMR_AF=0.0216;AFR_AF=0.0325;EUR_AF=0.0328;SAS_AF=0.0317;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0353435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56063628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0426;AF_popmax=0.0479;AF_male=0.0431;AF_female=0.0419;AF_raw=0.0427;AF_afr=0.0479;AF_sas=.;AF_amr=0.0212;AF_eas=0.0397;AF_nfe=0.0373;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0405;non_topmed_AF_popmax=0.0478;non_neuro_AF_popmax=0.0518;non_cancer_AF_popmax=.;controls_AF_popmax=0.0534;Kaviar_AF=0.0057761;Kaviar_AC=893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228524671 rs374978474 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374978474;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228524919 rs3795807 G A 100 PASS AC=86;AF=0.240016;AN=214;NS=2504;DP=18715;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2178;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4207;ExAC_nontcga_ALL=0.3494;ExAC_nontcga_AFR=0.0951;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.2048;ExAC_nontcga_FIN=0.4670;ExAC_nontcga_NFE=0.4284;ExAC_nontcga_OTH=0.3530;ExAC_nontcga_SAS=0.2649;AF=0.3339;AF_popmax=0.4458;AF_male=0.3300;AF_female=0.3389;AF_raw=0.3340;AF_afr=0.1006;AF_sas=.;AF_amr=0.3452;AF_eas=0.1982;AF_nfe=0.4458;AF_fin=0.4620;AF_asj=0.3379;AF_oth=0.3952;non_topmed_AF_popmax=0.4446;non_neuro_AF_popmax=0.4464;non_cancer_AF_popmax=.;controls_AF_popmax=0.4546;Kaviar_AF=0.348902;Kaviar_AC=53941;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228524961 rs3795808 C A 100 PASS AC=86;AF=0.239816;AN=214;NS=2504;DP=18520;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2168;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4226;ExAC_nontcga_ALL=0.3523;ExAC_nontcga_AFR=0.0971;ExAC_nontcga_AMR=0.3111;ExAC_nontcga_EAS=0.2100;ExAC_nontcga_FIN=0.4710;ExAC_nontcga_NFE=0.4304;ExAC_nontcga_OTH=0.3547;ExAC_nontcga_SAS=0.2665;AF=0.3342;AF_popmax=0.4461;AF_male=0.3304;AF_female=0.3390;AF_raw=0.3340;AF_afr=0.1006;AF_sas=.;AF_amr=0.3460;AF_eas=0.1972;AF_nfe=0.4461;AF_fin=0.4620;AF_asj=0.3379;AF_oth=0.3959;non_topmed_AF_popmax=0.4450;non_neuro_AF_popmax=0.4468;non_cancer_AF_popmax=.;controls_AF_popmax=0.4553;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228525008 rs3795809 G A 100 PASS AC=25;AF=0.0766773;AN=214;NS=2504;DP=18983;EAS_AF=0.0556;AMR_AF=0.1744;AFR_AF=0.0189;EUR_AF=0.1252;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.G16724A:p.R5575H,OBSCN:NM_052843:exon66:c.G16724A:p.R5575H,OBSCN:NM_001271223:exon77:c.G19595A:p.R6532H;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.123;Polyphen2_HDIV_rankscore=0.361;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.237;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.404;LRT_pred=N;MutationTaster_score=0.145;MutationTaster_converted_rankscore=0.394;MutationTaster_pred=P;MutationAssessor_score=0.49;MutationAssessor_score_rankscore=0.133;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.095;VEST3_rankscore=0.479;MetaSVM_score=-1.055;MetaSVM_rankscore=0.130;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.148;REVEL_rankscore=0.397;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.879;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.005;Eigen-PC-raw=0.059;GenoCanyon_score=0.898;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=6.658;phyloP100way_vertebrate_rankscore=0.741;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=17.467;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000269890.1|ENSG00000154358.15|ENSG00000168159.9|ENSG00000154358.15|ENSG00000270110.1;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1341;ExAC_nontcga_AFR=0.0346;ExAC_nontcga_AMR=0.2688;ExAC_nontcga_EAS=0.0760;ExAC_nontcga_FIN=0.1100;ExAC_nontcga_NFE=0.1512;ExAC_nontcga_OTH=0.1502;ExAC_nontcga_SAS=0.0757;AF=0.1000;AF_popmax=0.2227;AF_male=0.0975;AF_female=0.1031;AF_raw=0.0999;AF_afr=0.0353;AF_sas=.;AF_amr=0.2227;AF_eas=0.0603;AF_nfe=0.1307;AF_fin=0.1025;AF_asj=0.1552;AF_oth=0.1225;non_topmed_AF_popmax=0.2208;non_neuro_AF_popmax=0.2091;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.117198;Kaviar_AC=18119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.130515::0.290102;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525627 rs1757127 C A 100 PASS AC=86;AF=0.240216;AN=214;NS=2504;DP=15889;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2188;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4221;ExAC_nontcga_ALL=0.3854;ExAC_nontcga_AFR=0.1186;ExAC_nontcga_AMR=0.3528;ExAC_nontcga_EAS=0.2571;ExAC_nontcga_FIN=0.4964;ExAC_nontcga_NFE=0.4571;ExAC_nontcga_OTH=0.3885;ExAC_nontcga_SAS=0.2883;AF=0.3329;AF_popmax=0.4444;AF_male=0.3290;AF_female=0.3379;AF_raw=0.3337;AF_afr=0.1001;AF_sas=.;AF_amr=0.3475;AF_eas=0.1967;AF_nfe=0.4444;AF_fin=0.4609;AF_asj=0.3379;AF_oth=0.3937;non_topmed_AF_popmax=0.4430;non_neuro_AF_popmax=0.4448;non_cancer_AF_popmax=.;controls_AF_popmax=0.4532;Kaviar_AF=0.337945;Kaviar_AC=52247;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228525689 rs200399831 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17709;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon67:c.G16845A:p.G5615G,OBSCN:NM_052843:exon67:c.G16845A:p.G5615G,OBSCN:NM_001271223:exon78:c.G19716A:p.G6572G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200399831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.229e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=8.063e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.379e-05;AF_popmax=0.0001;AF_male=5.732e-05;AF_female=7.191e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525799 rs528408400 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15799;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=OBSCN:NM_001098623:exon67:c.C16955A:p.S5652X,OBSCN:NM_052843:exon67:c.C16955A:p.S5652X,OBSCN:NM_001271223:exon78:c.C19826A:p.S6609X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528408400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=16.481;CADD_raw_rankscore=1.000;CADD_phred=56;DANN_score=0.989;DANN_rankscore=0.477;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.741;Eigen-PC-raw=0.578;GenoCanyon_score=0.917;GenoCanyon_score_rankscore=0.265;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=4.687;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.523;phastCons20way_mammalian_rankscore=0.275;SiPhy_29way_logOdds=16.976;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Obscurin,_SH3_domain|SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.019e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.968e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525823 rs191098985 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14362;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon67:c.C16979T:p.A5660V,OBSCN:NM_052843:exon67:c.C16979T:p.A5660V,OBSCN:NM_001271223:exon78:c.C19850T:p.A6617V;1000g2015aug_all=0.000998403;GWAS=rs2760061|Cardiovascular-disease||1E-9|PMID:30595370;ORegAnno_REGULATORY_P=.;avsnp150=rs191098985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=1.15;FATHMM_converted_rankscore=0.382;FATHMM_pred=T;PROVEAN_score=-2.96;PROVEAN_converted_rankscore=0.643;PROVEAN_pred=D;VEST3_score=0.406;VEST3_rankscore=0.636;MetaSVM_score=-0.776;MetaSVM_rankscore=0.565;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_rankscore=0.472;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.591;M-CAP_pred=D;REVEL_score=0.269;REVEL_rankscore=0.588;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.985;CADD_raw_rankscore=0.936;CADD_phred=33;DANN_score=0.991;DANN_rankscore=0.521;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.831;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.667;Eigen-PC-raw=0.624;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=7.575;phyloP100way_vertebrate_rankscore=0.816;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=16.976;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Obscurin,_SH3_domain|SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.471e-05;AF=0.0003;AF_popmax=0.0035;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525898 rs1188717 C G 100 PASS AC=103;AF=0.538339;AN=214;NS=2504;DP=15231;EAS_AF=0.5962;AMR_AF=0.4654;AFR_AF=0.6672;EUR_AF=0.5199;SAS_AF=0.3753;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5695;AF_popmax=0.5997;AF_male=0.5698;AF_female=0.5692;AF_raw=0.5696;AF_afr=0.5997;AF_sas=.;AF_amr=0.4539;AF_eas=0.5689;AF_nfe=0.5457;AF_fin=0.6437;AF_asj=0.4552;AF_oth=0.5489;non_topmed_AF_popmax=0.5997;non_neuro_AF_popmax=0.6147;non_cancer_AF_popmax=.;controls_AF_popmax=0.6157;Kaviar_AF=0.521746;Kaviar_AC=13580;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5695;AF_popmax=0.5997;AF_male=0.5698;AF_female=0.5692;AF_raw=0.5696;AF_afr=0.5997;AF_sas=.;AF_amr=0.4539;AF_eas=0.5689;AF_nfe=0.5457;AF_fin=0.6437;AF_asj=0.4552;AF_oth=0.5489;non_topmed_AF_popmax=0.5997;non_neuro_AF_popmax=0.6147;non_cancer_AF_popmax=.;controls_AF_popmax=0.6157;Kaviar_AF=0.521746;Kaviar_AC=13580;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228526011 rs11577699 C T 100 PASS AC=25;AF=0.117612;AN=214;NS=2504;DP=16460;EAS_AF=0.1091;AMR_AF=0.1916;AFR_AF=0.1006;EUR_AF=0.1372;SAS_AF=0.0767;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon68:c.C17022T:p.A5674A,OBSCN:NM_052843:exon68:c.C17022T:p.A5674A,OBSCN:NM_001271223:exon79:c.C19893T:p.A6631A;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11577699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1578;ExAC_nontcga_ALL=0.1639;ExAC_nontcga_AFR=0.1399;ExAC_nontcga_AMR=0.2810;ExAC_nontcga_EAS=0.1181;ExAC_nontcga_FIN=0.1421;ExAC_nontcga_NFE=0.1765;ExAC_nontcga_OTH=0.1738;ExAC_nontcga_SAS=0.0944;AF=0.1465;AF_popmax=0.2364;AF_male=0.1450;AF_female=0.1484;AF_raw=0.1466;AF_afr=0.1378;AF_sas=.;AF_amr=0.2364;AF_eas=0.0987;AF_nfe=0.1546;AF_fin=0.1296;AF_asj=0.1597;AF_oth=0.1501;non_topmed_AF_popmax=0.2327;non_neuro_AF_popmax=0.2228;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.130121;Kaviar_AC=20117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526486 rs58480216 G A 100 PASS AC=86;AF=0.228435;AN=214;NS=2504;DP=16999;EAS_AF=0.247;AMR_AF=0.2651;AFR_AF=0.059;EUR_AF=0.4195;SAS_AF=0.2157;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58480216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3314;AF_popmax=0.4454;AF_male=0.3275;AF_female=0.3364;AF_raw=0.3314;AF_afr=0.1008;AF_sas=.;AF_amr=0.2960;AF_eas=0.1909;AF_nfe=0.4454;AF_fin=0.4579;AF_asj=0.3345;AF_oth=0.3904;non_topmed_AF_popmax=0.4443;non_neuro_AF_popmax=0.4460;non_cancer_AF_popmax=.;controls_AF_popmax=0.4537;Kaviar_AF=0.0609371;Kaviar_AC=9421;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228526578 rs144372515 T A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=16636;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144372515;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.12;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_rankscore=0.495;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.69;Polyphen2_HVAR_rankscore=0.519;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=0.768;MutationTaster_converted_rankscore=0.294;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_score_rankscore=0.430;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=D;VEST3_score=0.351;VEST3_rankscore=0.596;MetaSVM_score=-0.758;MetaSVM_rankscore=0.575;MetaSVM_pred=T;MetaLR_score=0.129;MetaLR_rankscore=0.438;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.269;REVEL_rankscore=0.588;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.894;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.993;DANN_rankscore=0.586;fathmm-MKL_coding_score=0.690;fathmm-MKL_coding_rankscore=0.338;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.253;Eigen-PC-raw=-0.303;GenoCanyon_score=0.939;GenoCanyon_score_rankscore=0.273;integrated_fitCons_score=0.632;integrated_fitCons_score_rankscore=0.408;integrated_confidence_value=0;GERP++_RS=-0.097;GERP++_RS_rankscore=0.129;phyloP100way_vertebrate=-0.109;phyloP100way_vertebrate_rankscore=0.107;phyloP20way_mammalian=-1.003;phyloP20way_mammalian_rankscore=0.022;phastCons100way_vertebrate=0.555;phastCons100way_vertebrate_rankscore=0.272;phastCons20way_mammalian=0.352;phastCons20way_mammalian_rankscore=0.246;SiPhy_29way_logOdds=10.255;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0049;AF=0.0084;AF_popmax=0.0107;AF_male=0.0085;AF_female=0.0083;AF_raw=0.0084;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0204;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0114;non_cancer_AF_popmax=.;controls_AF_popmax=0.008;Kaviar_AF=0.0037451;Kaviar_AC=579;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.249129;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526653 rs200092155 C A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19616;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.C17184A:p.H5728Q,OBSCN:NM_052843:exon69:c.C17184A:p.H5728Q,OBSCN:NM_001271223:exon80:c.C20055A:p.H6685Q;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200092155;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.258;SIFT_converted_rankscore=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_rankscore=0.189;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.293;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=1.57;FATHMM_converted_rankscore=0.293;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.213;MetaSVM_score=-1.039;MetaSVM_rankscore=0.175;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.230;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.168;M-CAP_pred=T;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.750;CADD_raw_rankscore=0.271;CADD_phred=14.69;DANN_score=0.892;DANN_rankscore=0.180;fathmm-MKL_coding_score=0.094;fathmm-MKL_coding_rankscore=0.150;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.297;Eigen-PC-raw=-1.512;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=-10.4;GERP++_RS_rankscore=0.003;phyloP100way_vertebrate=-1.795;phyloP100way_vertebrate_rankscore=0.018;phyloP20way_mammalian=-1.176;phyloP20way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.023;phastCons20way_mammalian_rankscore=0.138;SiPhy_29way_logOdds=8.176;SiPhy_29way_logOdds_rankscore=0.303;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0007;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526665 rs505629 T C 100 PASS AC=103;AF=0.494409;AN=214;NS=2504;DP=19542;EAS_AF=0.5665;AMR_AF=0.4294;AFR_AF=0.5522;EUR_AF=0.5209;SAS_AF=0.3609;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;1000g2015aug_all=0.494409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505629;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5569;ExAC_nontcga_ALL=0.4749;ExAC_nontcga_AFR=0.5204;ExAC_nontcga_AMR=0.3944;ExAC_nontcga_EAS=0.5613;ExAC_nontcga_FIN=0.7303;ExAC_nontcga_NFE=0.5246;ExAC_nontcga_OTH=0.4531;ExAC_nontcga_SAS=0.4259;AF=0.5391;AF_popmax=0.5435;AF_male=0.5376;AF_female=0.5411;AF_raw=0.5389;AF_afr=0.5081;AF_sas=.;AF_amr=0.4092;AF_eas=0.5290;AF_nfe=0.5435;AF_fin=0.6401;AF_asj=0.4483;AF_oth=0.5434;non_topmed_AF_popmax=0.5483;non_neuro_AF_popmax=0.5442;non_cancer_AF_popmax=.;controls_AF_popmax=0.5706;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228527685 rs142093978 C T 100 PASS AC=3;AF=0.00259585;AN=214;NS=2504;DP=21740;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.C17298T:p.D5766D,OBSCN:NM_052843:exon70:c.C17298T:p.D5766D,OBSCN:NM_001271223:exon81:c.C20169T:p.D6723D;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142093978;CLNALLELEID=609409;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0056;AF_popmax=0.0067;AF_male=0.0054;AF_female=0.0059;AF_raw=0.0056;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0158;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0071;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.004269;Kaviar_AC=660;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.167062;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527749 rs56065114 C T 100 PASS AC=1;AF=0.00858626;AN=214;NS=2504;DP=20788;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0257;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.C17362T:p.R5788C,OBSCN:NM_052843:exon70:c.C17362T:p.R5788C,OBSCN:NM_001271223:exon81:c.C20233T:p.R6745C;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56065114;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-5.28;PROVEAN_converted_rankscore=0.885;PROVEAN_pred=D;VEST3_score=0.289;VEST3_rankscore=0.885;MetaSVM_score=-0.495;MetaSVM_rankscore=0.688;MetaSVM_pred=T;MetaLR_score=0.172;MetaLR_rankscore=0.514;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.658;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.261;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.996;DANN_rankscore=0.760;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.741;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.421;Eigen-PC-raw=0.362;GenoCanyon_score=0.019;GenoCanyon_score_rankscore=0.131;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=2.992;phyloP100way_vertebrate_rankscore=0.489;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.925;phastCons20way_mammalian_rankscore=0.399;SiPhy_29way_logOdds=14.139;SiPhy_29way_logOdds_rankscore=0.647;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0270;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0079;AF_popmax=0.0268;AF_male=0.0084;AF_female=0.0073;AF_raw=0.0080;AF_afr=0.0268;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0258;non_cancer_AF_popmax=.;controls_AF_popmax=0.0258;Kaviar_AF=0.0031759;Kaviar_AC=491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.539750;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527758 rs200362121 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20375;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.G17371C:p.A5791P,OBSCN:NM_052843:exon70:c.G17371C:p.A5791P,OBSCN:NM_001271223:exon81:c.G20242C:p.A6748P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200362121;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-0.45;FATHMM_converted_rankscore=0.699;FATHMM_pred=T;PROVEAN_score=-3.82;PROVEAN_converted_rankscore=0.754;PROVEAN_pred=D;VEST3_score=0.616;VEST3_rankscore=0.749;MetaSVM_score=-0.399;MetaSVM_rankscore=0.721;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_rankscore=0.730;MetaLR_pred=T;M-CAP_score=0.102;M-CAP_rankscore=0.776;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.172;CADD_raw_rankscore=0.852;CADD_phred=28.6;DANN_score=0.994;DANN_rankscore=0.640;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.994;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.458;Eigen-PC-raw=0.496;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=7.775;phyloP100way_vertebrate_rankscore=0.841;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.855;phastCons20way_mammalian_rankscore=0.357;SiPhy_29way_logOdds=18.437;SiPhy_29way_logOdds_rankscore=0.906;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.189e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004204;Kaviar_AC=65;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.112814;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527844 rs11588701 T G 100 PASS AC=5;AF=0.0297524;AN=214;NS=2504;DP=20033;EAS_AF=0.0536;AMR_AF=0.0216;AFR_AF=0.0325;EUR_AF=0.0278;SAS_AF=0.0092;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0297524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11588701;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.0460;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0410;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0385;ExAC_nontcga_SAS=0.0163;AF=0.0385;AF_popmax=0.0482;AF_male=0.0392;AF_female=0.0377;AF_raw=0.0385;AF_afr=0.0482;AF_sas=.;AF_amr=0.0212;AF_eas=0.0397;AF_nfe=0.0358;AF_fin=0.0323;AF_asj=0.0448;AF_oth=0.0313;non_topmed_AF_popmax=0.0480;non_neuro_AF_popmax=0.0519;non_cancer_AF_popmax=.;controls_AF_popmax=0.0534;Kaviar_AF=0.0286607;Kaviar_AC=4431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228528412 rs1150916 G A 100 PASS AC=86;AF=0.351837;AN=214;NS=2504;DP=16211;EAS_AF=0.252;AMR_AF=0.3847;AFR_AF=0.4561;EUR_AF=0.4215;SAS_AF=0.2188;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150916;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4247;ExAC_nontcga_ALL=0.3871;ExAC_nontcga_AFR=0.4262;ExAC_nontcga_AMR=0.3297;ExAC_nontcga_EAS=0.2252;ExAC_nontcga_FIN=0.4811;ExAC_nontcga_NFE=0.4378;ExAC_nontcga_OTH=0.3665;ExAC_nontcga_SAS=0.2755;AF=0.4206;AF_popmax=0.4467;AF_male=0.4199;AF_female=0.4215;AF_raw=0.4209;AF_afr=0.4068;AF_sas=.;AF_amr=0.3608;AF_eas=0.2044;AF_nfe=0.4467;AF_fin=0.4603;AF_asj=0.3483;AF_oth=0.4107;non_topmed_AF_popmax=0.4457;non_neuro_AF_popmax=0.4470;non_cancer_AF_popmax=.;controls_AF_popmax=0.4549;Kaviar_AF=0.371625;Kaviar_AC=57454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228528563 rs1188710 C G 100 PASS AC=103;AF=0.538738;AN=214;NS=2504;DP=14531;EAS_AF=0.5942;AMR_AF=0.4654;AFR_AF=0.6679;EUR_AF=0.5229;SAS_AF=0.3753;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;1000g2015aug_all=0.538738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.439;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_converted_rankscore=0.105;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_converted_rankscore=0.006;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.278;MetaSVM_score=-0.947;MetaSVM_rankscore=0.416;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.194;CADD_raw_rankscore=0.113;CADD_phred=4.616;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_rankscore=0.226;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.861;Eigen-PC-raw=-0.576;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.573;integrated_confidence_value=0;GERP++_RS=4.12;GERP++_RS_rankscore=0.473;phyloP100way_vertebrate=4.836;phyloP100way_vertebrate_rankscore=0.622;phyloP20way_mammalian=-0.274;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.593;phastCons20way_mammalian_rankscore=0.287;SiPhy_29way_logOdds=14.134;SiPhy_29way_logOdds_rankscore=0.647;Interpro_domain=PH_domain-like;GTEx_V6p_gene=ENSG00000168118.7;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5203;ExAC_nontcga_ALL=0.5450;ExAC_nontcga_AFR=0.6421;ExAC_nontcga_AMR=0.4792;ExAC_nontcga_EAS=0.6045;ExAC_nontcga_FIN=0.6691;ExAC_nontcga_NFE=0.5592;ExAC_nontcga_OTH=0.5217;ExAC_nontcga_SAS=0.4373;AF=0.5696;AF_popmax=0.6002;AF_male=0.5695;AF_female=0.5698;AF_raw=0.5695;AF_afr=0.6002;AF_sas=.;AF_amr=0.4550;AF_eas=0.5677;AF_nfe=0.5462;AF_fin=0.6416;AF_asj=0.4655;AF_oth=0.5470;non_topmed_AF_popmax=0.6003;non_neuro_AF_popmax=0.6132;non_cancer_AF_popmax=.;controls_AF_popmax=0.6146;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.313182;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228528752 rs368279229 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13484;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368279229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0039;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.071e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0032;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0032;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228529129 rs3795810 C A 100 PASS AC=17;AF=0.138179;AN=214;NS=2504;DP=14549;EAS_AF=0.3284;AMR_AF=0.072;AFR_AF=0.0446;EUR_AF=0.1034;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.138179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795810;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.0945;ExAC_nontcga_ALL=0.1419;ExAC_nontcga_AFR=0.0623;ExAC_nontcga_AMR=0.1121;ExAC_nontcga_EAS=0.3599;ExAC_nontcga_FIN=0.2224;ExAC_nontcga_NFE=0.1113;ExAC_nontcga_OTH=0.1446;ExAC_nontcga_SAS=0.1642;AF=0.1139;AF_popmax=0.3450;AF_male=0.1118;AF_female=0.1165;AF_raw=0.1142;AF_afr=0.0554;AF_sas=.;AF_amr=0.0816;AF_eas=0.3450;AF_nfe=0.1048;AF_fin=0.1991;AF_asj=0.1;AF_oth=0.1384;non_topmed_AF_popmax=0.3411;non_neuro_AF_popmax=0.3450;non_cancer_AF_popmax=.;controls_AF_popmax=0.3455;Kaviar_AF=0.118776;Kaviar_AC=18363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538470 rs12031395 C G 100 PASS AC=17;AF=0.147764;AN=214;NS=2504;DP=19734;EAS_AF=0.3433;AMR_AF=0.072;AFR_AF=0.0726;EUR_AF=0.0984;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12031395;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1156;AF_popmax=0.3668;AF_male=0.1140;AF_female=0.1177;AF_raw=0.1156;AF_afr=0.0770;AF_sas=.;AF_amr=0.0814;AF_eas=0.3668;AF_nfe=0.0982;AF_fin=0.1813;AF_asj=0.1;AF_oth=0.1333;non_topmed_AF_popmax=0.3635;non_neuro_AF_popmax=0.3668;non_cancer_AF_popmax=.;controls_AF_popmax=0.3725;Kaviar_AF=0.0207177;Kaviar_AC=3203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538568 rs142615706 C G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17964;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.C18343G:p.R6115G,OBSCN:NM_052843:exon77:c.C18343G:p.R6115G,OBSCN:NM_001271223:exon88:c.C21214G:p.R7072G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142615706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.457;MutationTaster_pred=D;MutationAssessor_score=1.36;MutationAssessor_score_rankscore=0.342;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-4.27;PROVEAN_converted_rankscore=0.796;PROVEAN_pred=D;VEST3_score=0.516;VEST3_rankscore=0.646;MetaSVM_score=-0.381;MetaSVM_rankscore=0.726;MetaSVM_pred=T;MetaLR_score=0.317;MetaLR_rankscore=0.687;MetaLR_pred=T;M-CAP_score=0.075;M-CAP_rankscore=0.724;M-CAP_pred=D;REVEL_score=0.326;REVEL_rankscore=0.652;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.894;CADD_raw_rankscore=0.808;CADD_phred=27.4;DANN_score=0.983;DANN_rankscore=0.398;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_rankscore=0.507;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.470;Eigen-PC-raw=0.435;GenoCanyon_score=0.052;GenoCanyon_score_rankscore=0.149;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=3.086;phyloP100way_vertebrate_rankscore=0.496;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.870;phastCons20way_mammalian_rankscore=0.364;SiPhy_29way_logOdds=14.303;SiPhy_29way_logOdds_rankscore=0.658;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0060;ExAC_nontcga_SAS=0;AF=0.0017;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0017;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228538635 rs140996408 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15519;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.C18410T:p.P6137L,OBSCN:NM_052843:exon77:c.C18410T:p.P6137L,OBSCN:NM_001271223:exon88:c.C21281T:p.P7094L;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140996408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.975;MutationAssessor_score_rankscore=0.857;MutationAssessor_pred=M;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.713;FATHMM_pred=T;PROVEAN_score=-7.31;PROVEAN_converted_rankscore=0.957;PROVEAN_pred=D;VEST3_score=0.58;VEST3_rankscore=0.708;MetaSVM_score=0.264;MetaSVM_rankscore=0.870;MetaSVM_pred=D;MetaLR_score=0.543;MetaLR_rankscore=0.832;MetaLR_pred=D;M-CAP_score=0.195;M-CAP_rankscore=0.864;M-CAP_pred=D;REVEL_score=0.638;REVEL_rankscore=0.864;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.415;CADD_raw_rankscore=0.886;CADD_phred=29.7;DANN_score=0.994;DANN_rankscore=0.643;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.795;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.730;Eigen-PC-raw=0.617;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=7.249;phyloP100way_vertebrate_rankscore=0.775;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=19.553;SiPhy_29way_logOdds_rankscore=0.953;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0005;AF_popmax=0.0009;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228538968 rs3795811 C T 100 PASS AC=24;AF=0.139577;AN=214;NS=2504;DP=17414;EAS_AF=0.3125;AMR_AF=0.0533;AFR_AF=0.0507;EUR_AF=0.1342;SAS_AF=0.1483;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795811;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1335;AF_popmax=0.3217;AF_male=0.1310;AF_female=0.1367;AF_raw=0.1338;AF_afr=0.0632;AF_sas=.;AF_amr=0.0496;AF_eas=0.3217;AF_nfe=0.1351;AF_fin=0.2334;AF_asj=0.1069;AF_oth=0.1577;non_topmed_AF_popmax=0.3173;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3235;Kaviar_AF=0.0215456;Kaviar_AC=3331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538982 rs187504490 G T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=16568;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187504490;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0046;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0036;AF_popmax=0.0118;AF_male=0.0037;AF_female=0.0036;AF_raw=0.0036;AF_afr=0.0018;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0012;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0029366;Kaviar_AC=454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228539034 rs56187628 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17311;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon78:c.C18432T:p.D6144D,OBSCN:NM_052843:exon78:c.C18432T:p.D6144D,OBSCN:NM_001271223:exon89:c.C21303T:p.D7101D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56187628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0001;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228543800 rs3795814 C T 100 PASS AC=17;AF=0.172125;AN=214;NS=2504;DP=20933;EAS_AF=0.3284;AMR_AF=0.0778;AFR_AF=0.1717;EUR_AF=0.1004;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.172125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0899;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1369;AF_popmax=0.3456;AF_male=0.1376;AF_female=0.1361;AF_raw=0.1370;AF_afr=0.1562;AF_sas=.;AF_amr=0.0908;AF_eas=0.3456;AF_nfe=0.0985;AF_fin=0.1793;AF_asj=0.1172;AF_oth=0.1333;non_topmed_AF_popmax=0.3426;non_neuro_AF_popmax=0.3456;non_cancer_AF_popmax=.;controls_AF_popmax=0.3446;Kaviar_AF=0.0224577;Kaviar_AC=3472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228547256 rs12027720 G A 100 PASS AC=17;AF=0.147564;AN=214;NS=2504;DP=17098;EAS_AF=0.3284;AMR_AF=0.0764;AFR_AF=0.0825;EUR_AF=0.0984;SAS_AF=0.1503;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147564;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12027720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0836;ExAC_nontcga_ALL=0.1734;ExAC_nontcga_AFR=0.1355;ExAC_nontcga_AMR=0.1533;ExAC_nontcga_EAS=0.4312;ExAC_nontcga_FIN=0.2514;ExAC_nontcga_NFE=0.1400;ExAC_nontcga_OTH=0.1757;ExAC_nontcga_SAS=0.2063;AF=0.1179;AF_popmax=0.3452;AF_male=0.1168;AF_female=0.1193;AF_raw=0.1180;AF_afr=0.0915;AF_sas=.;AF_amr=0.0837;AF_eas=0.3452;AF_nfe=0.0974;AF_fin=0.1791;AF_asj=0.1007;AF_oth=0.1324;non_topmed_AF_popmax=0.3413;non_neuro_AF_popmax=0.3452;non_cancer_AF_popmax=.;controls_AF_popmax=0.3443;Kaviar_AF=0.0848954;Kaviar_AC=13125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228547769 rs151322036 C T 100 PASS AC=3;AF=0.00479233;AN=214;NS=2504;DP=17499;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0082;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19176T:p.V6392V;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151322036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0137;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0547;ExAC_nontcga_NFE=0.0182;ExAC_nontcga_OTH=0.0208;ExAC_nontcga_SAS=0.0068;AF=0.0085;AF_popmax=0.0110;AF_male=0.0085;AF_female=0.0086;AF_raw=0.0085;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0205;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0084;Kaviar_AF=0.0066623;Kaviar_AC=1030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228547901 rs12035900 C T 100 PASS AC=82;AF=0.298722;AN=214;NS=2504;DP=18726;EAS_AF=0.2669;AMR_AF=0.3112;AFR_AF=0.1142;EUR_AF=0.328;SAS_AF=0.5419;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;1000g2015aug_all=0.298722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12035900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3011;ExAC_nontcga_ALL=0.3143;ExAC_nontcga_AFR=0.1602;ExAC_nontcga_AMR=0.3208;ExAC_nontcga_EAS=0.2874;ExAC_nontcga_FIN=0.2343;ExAC_nontcga_NFE=0.2952;ExAC_nontcga_OTH=0.3506;ExAC_nontcga_SAS=0.4936;AF=0.2458;AF_popmax=0.3161;AF_male=0.2465;AF_female=0.2449;AF_raw=0.2463;AF_afr=0.1592;AF_sas=.;AF_amr=0.2866;AF_eas=0.3161;AF_nfe=0.2856;AF_fin=0.2228;AF_asj=0.3310;AF_oth=0.2930;non_topmed_AF_popmax=0.3168;non_neuro_AF_popmax=0.3161;non_cancer_AF_popmax=.;controls_AF_popmax=0.3374;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 +1 228548029 rs558751535 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18912;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19436A:p.T6479N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558751535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.368;Polyphen2_HDIV_rankscore=0.323;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.234;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.910;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.717;FATHMM_pred=T;PROVEAN_score=-1.93;PROVEAN_converted_rankscore=0.448;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.518;MetaSVM_rankscore=0.680;MetaSVM_pred=T;MetaLR_score=0.307;MetaLR_rankscore=0.678;MetaLR_pred=T;M-CAP_score=0.039;M-CAP_rankscore=0.588;M-CAP_pred=D;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=0.23;MutPred_rankscore=0.158;CADD_raw=2.012;CADD_raw_rankscore=0.303;CADD_phred=16.29;DANN_score=0.989;DANN_rankscore=0.481;fathmm-MKL_coding_score=0.921;fathmm-MKL_coding_rankscore=0.546;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.063;Eigen-PC-raw=0.098;GenoCanyon_score=0.954;GenoCanyon_score_rankscore=0.280;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=4.474;phyloP100way_vertebrate_rankscore=0.597;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.626;phastCons20way_mammalian_rankscore=0.294;SiPhy_29way_logOdds=8.897;SiPhy_29way_logOdds_rankscore=0.344;Interpro_domain=Protein_kinase_domain|Protein_kinase,_ATP_binding_site|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.536e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548094 rs557151650 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17170;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19501G:p.Q6501E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557151650;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.962;Polyphen2_HVAR_rankscore=0.690;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.171;VEST3_rankscore=0.275;MetaSVM_score=0.027;MetaSVM_rankscore=0.828;MetaSVM_pred=D;MetaLR_score=0.503;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.060;M-CAP_rankscore=0.679;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=0.304;MutPred_rankscore=0.274;CADD_raw=2.418;CADD_raw_rankscore=0.352;CADD_phred=18.93;DANN_score=0.996;DANN_rankscore=0.758;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.695;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.689;Eigen-PC-raw=0.640;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=4.75;GERP++_RS_rankscore=0.598;phyloP100way_vertebrate=7.451;phyloP100way_vertebrate_rankscore=0.796;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=17.934;SiPhy_29way_logOdds_rankscore=0.889;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.615e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.873e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548129 rs542503422 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16663;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.T19536C:p.P6512P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542503422;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548197 rs10158354 G A 100 PASS AC=17;AF=0.147764;AN=214;NS=2504;DP=17345;EAS_AF=0.3284;AMR_AF=0.0764;AFR_AF=0.0832;EUR_AF=0.0984;SAS_AF=0.1503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19604A:p.R6535H;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10158354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.186;SIFT_converted_rankscore=0.214;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.44;FATHMM_converted_rankscore=0.566;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.003;MetaSVM_score=-0.996;MetaSVM_rankscore=0.310;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.089;CADD_raw_rankscore=0.085;CADD_phred=1.814;DANN_score=0.881;DANN_rankscore=0.171;fathmm-MKL_coding_score=0.025;fathmm-MKL_coding_rankscore=0.069;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.492;Eigen-PC-raw=-1.599;GenoCanyon_score=0.914;GenoCanyon_score_rankscore=0.264;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=-5.62;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-1.001;phyloP100way_vertebrate_rankscore=0.038;phyloP20way_mammalian=-0.065;phyloP20way_mammalian_rankscore=0.121;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.825;SiPhy_29way_logOdds_rankscore=0.177;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0857;ExAC_nontcga_ALL=0.1334;ExAC_nontcga_AFR=0.1008;ExAC_nontcga_AMR=0.1042;ExAC_nontcga_EAS=0.3571;ExAC_nontcga_FIN=0.1943;ExAC_nontcga_NFE=0.1004;ExAC_nontcga_OTH=0.1320;ExAC_nontcga_SAS=0.1487;AF=0.1175;AF_popmax=0.3445;AF_male=0.1165;AF_female=0.1187;AF_raw=0.1181;AF_afr=0.0906;AF_sas=.;AF_amr=0.0849;AF_eas=0.3445;AF_nfe=0.0970;AF_fin=0.1788;AF_asj=0.1;AF_oth=0.1331;non_topmed_AF_popmax=0.3406;non_neuro_AF_popmax=0.3445;non_cancer_AF_popmax=.;controls_AF_popmax=0.3454;Kaviar_AF=0.114714;Kaviar_AC=17735;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228548257 rs534546721 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18913;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19664C:p.R6555P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534546721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.222;SIFT_converted_rankscore=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-0.38;PROVEAN_converted_rankscore=0.134;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.044;MetaSVM_score=-1.026;MetaSVM_rankscore=0.218;MetaSVM_pred=T;MetaLR_score=0.098;MetaLR_rankscore=0.367;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.429;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.317;CADD_raw_rankscore=0.067;CADD_phred=0.607;DANN_score=0.664;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.432;Eigen-PC-raw=-1.524;GenoCanyon_score=0.196;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-4.32;GERP++_RS_rankscore=0.034;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=-1.054;phyloP20way_mammalian_rankscore=0.020;phastCons100way_vertebrate=0.035;phastCons100way_vertebrate_rankscore=0.205;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=6.106;SiPhy_29way_logOdds_rankscore=0.192;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548360 rs141233508 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=19174;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19767A:p.E6589E;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141233508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0053;ExAC_nontcga_SAS=0;AF=0.0035;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0033;AF_raw=0.0035;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0032212;Kaviar_AC=498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228550344 rs200257210 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14939;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.G18729A:p.A6243A,OBSCN:NM_001271223:exon91:c.G21600A:p.A7200A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200257210;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228550426 rs35155240 C T 100 PASS AC=17;AF=0.146965;AN=214;NS=2504;DP=14923;EAS_AF=0.3264;AMR_AF=0.0764;AFR_AF=0.0825;EUR_AF=0.0984;SAS_AF=0.1493;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18811T:p.P6271S,OBSCN:NM_001271223:exon91:c.C21682T:p.P7228S;1000g2015aug_all=0.146965;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35155240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.687;SIFT_converted_rankscore=0.043;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.04;FATHMM_converted_rankscore=0.621;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_converted_rankscore=0.275;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.298;MetaSVM_score=-1.002;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.124;CADD_raw_rankscore=0.082;CADD_phred=1.559;DANN_score=0.501;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.075;fathmm-MKL_coding_rankscore=0.133;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.425;Eigen-PC-raw=-1.483;GenoCanyon_score=0.177;GenoCanyon_score_rankscore=0.178;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-3.86;GERP++_RS_rankscore=0.039;phyloP100way_vertebrate=-0.010;phyloP100way_vertebrate_rankscore=0.126;phyloP20way_mammalian=-0.404;phyloP20way_mammalian_rankscore=0.062;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.743;SiPhy_29way_logOdds_rankscore=0.049;Interpro_domain=.;GTEx_V6p_gene=ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0834;ExAC_nontcga_ALL=0.1752;ExAC_nontcga_AFR=0.1304;ExAC_nontcga_AMR=0.1523;ExAC_nontcga_EAS=0.4052;ExAC_nontcga_FIN=0.2670;ExAC_nontcga_NFE=0.1424;ExAC_nontcga_OTH=0.1636;ExAC_nontcga_SAS=0.1683;AF=0.1177;AF_popmax=0.3460;AF_male=0.1168;AF_female=0.1188;AF_raw=0.1180;AF_afr=0.0908;AF_sas=.;AF_amr=0.0837;AF_eas=0.3460;AF_nfe=0.0970;AF_fin=0.1799;AF_asj=0.0972;AF_oth=0.1327;non_topmed_AF_popmax=0.3421;non_neuro_AF_popmax=0.3460;non_cancer_AF_popmax=.;controls_AF_popmax=0.3476;Kaviar_AF=0.1054;Kaviar_AC=16295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228550429 rs11585049 C T 100 PASS AC=5;AF=0.0443291;AN=214;NS=2504;DP=14995;EAS_AF=0.0952;AMR_AF=0.0591;AFR_AF=0.0325;EUR_AF=0.0278;SAS_AF=0.0143;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18814T:p.P6272S,OBSCN:NM_001271223:exon91:c.C21685T:p.P7229S;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11585049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.253;SIFT_converted_rankscore=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_converted_rankscore=0.340;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.266;MetaSVM_score=-1.104;MetaSVM_rankscore=0.036;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.627;CADD_raw_rankscore=0.154;CADD_phred=8.342;DANN_score=0.336;DANN_rankscore=0.020;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_rankscore=0.166;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.120;Eigen-PC-raw=-1.141;GenoCanyon_score=0.047;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.05;GERP++_RS_rankscore=0.192;phyloP100way_vertebrate=0.816;phyloP100way_vertebrate_rankscore=0.267;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=5.236;SiPhy_29way_logOdds_rankscore=0.147;Interpro_domain=.;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0362;ExAC_nontcga_ALL=0.0598;ExAC_nontcga_AFR=0.0634;ExAC_nontcga_AMR=0.1018;ExAC_nontcga_EAS=0.1297;ExAC_nontcga_FIN=0.0444;ExAC_nontcga_NFE=0.0643;ExAC_nontcga_OTH=0.0642;ExAC_nontcga_SAS=0.0194;AF=0.0418;AF_popmax=0.0738;AF_male=0.0430;AF_female=0.0402;AF_raw=0.0418;AF_afr=0.0485;AF_sas=.;AF_amr=0.0660;AF_eas=0.0738;AF_nfe=0.0359;AF_fin=0.0325;AF_asj=0.0448;AF_oth=0.0341;non_topmed_AF_popmax=0.075;non_neuro_AF_popmax=0.0740;non_cancer_AF_popmax=.;controls_AF_popmax=0.0830;Kaviar_AF=0.0342557;Kaviar_AC=5296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228552618 rs563857360 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16786;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563857360;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228554767 rs549279803 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17890;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon86:c.G19519A:p.A6507T,OBSCN:NM_001271223:exon97:c.G22390A:p.A7464T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549279803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.388;SIFT_converted_rankscore=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.127;Polyphen2_HVAR_pred=B;LRT_score=0.314;LRT_converted_rankscore=0.144;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.105;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.239;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.345;M-CAP_pred=T;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=0.248;MutPred_rankscore=0.185;CADD_raw=1.354;CADD_raw_rankscore=0.226;CADD_phred=12.55;DANN_score=0.924;DANN_rankscore=0.212;fathmm-MKL_coding_score=0.104;fathmm-MKL_coding_rankscore=0.158;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.552;Eigen-PC-raw=-0.629;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.492;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=0.301;phyloP100way_vertebrate_rankscore=0.188;phyloP20way_mammalian=-0.272;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.117;phastCons100way_vertebrate_rankscore=0.229;phastCons20way_mammalian=0.231;phastCons20way_mammalian_rankscore=0.224;SiPhy_29way_logOdds=1.075;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.581e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.06e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228556014 rs374292331 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=17017;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374292331;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0059;AF=0.0007;AF_popmax=0.0047;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721719|N/A|HNF4A|PAZAR,OREG1745725|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228556403 rs35711644 C T 100 PASS AC=17;AF=0.125599;AN=214;NS=2504;DP=17831;EAS_AF=0.3075;AMR_AF=0.0389;AFR_AF=0.0371;EUR_AF=0.0994;SAS_AF=0.1462;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.125599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35711644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.1151;ExAC_nontcga_AFR=0.0474;ExAC_nontcga_AMR=0.0330;ExAC_nontcga_EAS=0.3302;ExAC_nontcga_FIN=0.1956;ExAC_nontcga_NFE=0.0951;ExAC_nontcga_OTH=0.1268;ExAC_nontcga_SAS=0.1376;AF=0.1037;AF_popmax=0.3176;AF_male=0.1012;AF_female=0.1067;AF_raw=0.1042;AF_afr=0.0450;AF_sas=.;AF_amr=0.0401;AF_eas=0.3176;AF_nfe=0.0975;AF_fin=0.1908;AF_asj=0.1;AF_oth=0.1278;non_topmed_AF_popmax=0.3139;non_neuro_AF_popmax=0.3176;non_cancer_AF_popmax=.;controls_AF_popmax=0.3216;Kaviar_AF=0.106493;Kaviar_AC=16464;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228556788 rs3738685 C T 100 PASS AC=83;AF=0.320487;AN=214;NS=2504;DP=18723;EAS_AF=0.251;AMR_AF=0.3141;AFR_AF=0.1838;EUR_AF=0.3628;SAS_AF=0.5378;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.320487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738685;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3585;ExAC_nontcga_ALL=0.3836;ExAC_nontcga_AFR=0.2457;ExAC_nontcga_AMR=0.3050;ExAC_nontcga_EAS=0.3075;ExAC_nontcga_FIN=0.3070;ExAC_nontcga_NFE=0.3907;ExAC_nontcga_OTH=0.4074;ExAC_nontcga_SAS=0.5110;AF=0.3103;AF_popmax=0.3617;AF_male=0.3096;AF_female=0.3110;AF_raw=0.3105;AF_afr=0.2313;AF_sas=.;AF_amr=0.2766;AF_eas=0.2957;AF_nfe=0.3617;AF_fin=0.2804;AF_asj=0.3655;AF_oth=0.3420;non_topmed_AF_popmax=0.3586;non_neuro_AF_popmax=0.3634;non_cancer_AF_popmax=.;controls_AF_popmax=0.3497;Kaviar_AF=0.326147;Kaviar_AC=50423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 +1 228556986 rs184946932 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19372;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184946932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0009989;Kaviar_AC=26;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1622171|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228557755 rs145597580 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19459;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20080A:p.A6694T,OBSCN:NM_001271223:exon102:c.G22951A:p.A7651T;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145597580;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_rankscore=0.643;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.412;MutationTaster_pred=D;MutationAssessor_score=2.265;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.12;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.241;VEST3_rankscore=0.552;MetaSVM_score=-0.167;MetaSVM_rankscore=0.785;MetaSVM_pred=T;MetaLR_score=0.357;MetaLR_rankscore=0.719;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.540;REVEL_rankscore=0.810;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.942;CADD_raw_rankscore=0.816;CADD_phred=27.6;DANN_score=0.818;DANN_rankscore=0.134;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.751;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.346;Eigen-PC-raw=0.315;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=7.368;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.295;phastCons20way_mammalian_rankscore=0.236;SiPhy_29way_logOdds=16.025;SiPhy_29way_logOdds_rankscore=0.802;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0038;AF=0.0022;AF_popmax=0.0027;AF_male=0.0018;AF_female=0.0026;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0046;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0028;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938301|Enhancer,ENSR00000938274|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228557980 rs188256711 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=18964;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.004;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188256711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=0.0012;AF_popmax=0.0021;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0021;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558307 rs543107416 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543107416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558389 rs528325731 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon93:c.C20176T:p.P6726S,OBSCN:NM_001271223:exon104:c.C23047T:p.P7683S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528325731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.565;MutationTaster_converted_rankscore=0.322;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_score_rankscore=0.583;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.715;PROVEAN_pred=D;VEST3_score=0.24;VEST3_rankscore=0.423;MetaSVM_score=-0.798;MetaSVM_rankscore=0.553;MetaSVM_pred=T;MetaLR_score=0.216;MetaLR_rankscore=0.578;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.622;M-CAP_pred=D;REVEL_score=0.175;REVEL_rankscore=0.447;MutPred_score=0.264;MutPred_rankscore=0.210;CADD_raw=4.526;CADD_raw_rankscore=0.606;CADD_phred=24.3;DANN_score=0.837;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.530;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.416;Eigen-PC-raw=0.354;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.622;integrated_fitCons_score_rankscore=0.393;integrated_confidence_value=0;GERP++_RS=4.9;GERP++_RS_rankscore=0.635;phyloP100way_vertebrate=3.861;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.032;phastCons20way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=16.798;SiPhy_29way_logOdds_rankscore=0.854;Interpro_domain=Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558817 rs143809856 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15108;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20338T:p.R6780W,OBSCN:NM_001271223:exon105:c.C23209T:p.R7737W;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143809856;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.976;Polyphen2_HVAR_rankscore=0.719;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.682;MutationTaster_converted_rankscore=0.302;MutationTaster_pred=N;MutationAssessor_score=2.095;MutationAssessor_score_rankscore=0.583;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-4.72;PROVEAN_converted_rankscore=0.800;PROVEAN_pred=D;VEST3_score=0.459;VEST3_rankscore=0.521;MetaSVM_score=-0.291;MetaSVM_rankscore=0.753;MetaSVM_pred=T;MetaLR_score=0.386;MetaLR_rankscore=0.742;MetaLR_pred=T;M-CAP_score=0.296;M-CAP_rankscore=0.907;M-CAP_pred=D;REVEL_score=0.285;REVEL_rankscore=0.608;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.323;CADD_raw_rankscore=0.873;CADD_phred=29.2;DANN_score=0.988;DANN_rankscore=0.455;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.566;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.189;Eigen-PC-raw=0.083;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.84;GERP++_RS_rankscore=0.321;phyloP100way_vertebrate=0.809;phyloP100way_vertebrate_rankscore=0.266;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.199;phastCons20way_mammalian_rankscore=0.217;SiPhy_29way_logOdds=13.053;SiPhy_29way_logOdds_rankscore=0.582;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.584e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.859e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=9.574e-05;AF_popmax=0.0013;AF_male=0.0001;AF_female=7.193e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558892 rs35186354 C T 100 PASS AC=12;AF=0.033746;AN=214;NS=2504;DP=13905;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0061;EUR_AF=0.0686;SAS_AF=0.0757;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20413T:p.R6805W,OBSCN:NM_001271223:exon105:c.C23284T:p.R7762W;1000g2015aug_all=0.033746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35186354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.913;Polyphen2_HVAR_rankscore=0.631;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=N;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_converted_rankscore=0.629;PROVEAN_pred=D;VEST3_score=0.271;VEST3_rankscore=0.405;MetaSVM_score=-0.953;MetaSVM_rankscore=0.405;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.202;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.144;REVEL_rankscore=0.389;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.518;CADD_raw_rankscore=0.898;CADD_phred=31;DANN_score=0.991;DANN_rankscore=0.520;fathmm-MKL_coding_score=0.310;fathmm-MKL_coding_rankscore=0.240;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.076;Eigen-PC-raw=-0.212;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=1.42;GERP++_RS_rankscore=0.214;phyloP100way_vertebrate=-0.207;phyloP100way_vertebrate_rankscore=0.093;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.810;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=10.441;SiPhy_29way_logOdds_rankscore=0.435;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0650;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0122;ExAC_nontcga_AMR=0.0287;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.1207;ExAC_nontcga_NFE=0.0770;ExAC_nontcga_OTH=0.1007;ExAC_nontcga_SAS=0.0852;AF=0.0541;AF_popmax=0.0722;AF_male=0.0512;AF_female=0.0577;AF_raw=0.0543;AF_afr=0.0114;AF_sas=.;AF_amr=0.0236;AF_eas=0.0006;AF_nfe=0.0722;AF_fin=0.1021;AF_asj=0.0759;AF_oth=0.0809;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0723;non_cancer_AF_popmax=.;controls_AF_popmax=0.0836;Kaviar_AF=0.0549087;Kaviar_AC=8489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228558952 rs113876855 T G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=11921;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T20473G:p.F6825V,OBSCN:NM_001271223:exon105:c.T23344G:p.F7782V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113876855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.483;Polyphen2_HDIV_rankscore=0.349;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.084;Polyphen2_HVAR_rankscore=0.277;Polyphen2_HVAR_pred=B;LRT_score=0.815;LRT_converted_rankscore=0.092;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=N;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.372;PROVEAN_pred=N;VEST3_score=0.195;VEST3_rankscore=0.384;MetaSVM_score=-1.030;MetaSVM_rankscore=0.204;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_rankscore=0.271;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.292;CADD_raw_rankscore=0.337;CADD_phred=18.11;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_rankscore=0.286;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.036;Eigen-PC-raw=-0.010;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.41;GERP++_RS_rankscore=0.380;phyloP100way_vertebrate=1.749;phyloP100way_vertebrate_rankscore=0.377;phyloP20way_mammalian=0.931;phyloP20way_mammalian_rankscore=0.441;phastCons100way_vertebrate=0.988;phastCons100way_vertebrate_rankscore=0.363;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=3.620;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0318;ExAC_nontcga_NFE=0.0163;ExAC_nontcga_OTH=0.0199;ExAC_nontcga_SAS=0.0007;AF=0.0099;AF_popmax=0.0123;AF_male=0.0096;AF_female=0.0103;AF_raw=0.0100;AF_afr=0.0021;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0236;AF_asj=0.0069;AF_oth=0.0147;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0180;Kaviar_AF=0.0063324;Kaviar_AC=979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.025643;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558992 rs536227878 CCA C 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=11512;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.20514_20515del:p.A6838fs,OBSCN:NM_001271223:exon105:c.23385_23386del:p.A7795fs;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536227878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.005;ExAC_nontcga_SAS=0.0006;AF=0.0058;AF_popmax=0.0088;AF_male=0.0056;AF_female=0.0060;AF_raw=0.0058;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0088;AF_fin=0.0101;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0153;Kaviar_AF=0.0022768;Kaviar_AC=352;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 228559008 rs181852000 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10882;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20529T:p.T6843T,OBSCN:NM_001271223:exon105:c.C23400T:p.T7800T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181852000;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.196e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.203e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559430 rs41305136 G A 100 PASS AC=7;AF=0.0217652;AN=214;NS=2504;DP=12177;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0685;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20951A:p.R6984Q,OBSCN:NM_001271223:exon105:c.G23822A:p.R7941Q;1000g2015aug_all=0.0217652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.42;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_converted_rankscore=0.129;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.310;MetaSVM_score=-1.057;MetaSVM_rankscore=0.125;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.121;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.220;CADD_raw_rankscore=0.074;CADD_phred=0.997;DANN_score=0.532;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_rankscore=0.095;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.920;Eigen-PC-raw=-1.912;GenoCanyon_score=0.789;GenoCanyon_score_rankscore=0.240;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-3.53;GERP++_RS_rankscore=0.043;phyloP100way_vertebrate=-0.947;phyloP100way_vertebrate_rankscore=0.040;phyloP20way_mammalian=-0.971;phyloP20way_mammalian_rankscore=0.023;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.442;SiPhy_29way_logOdds_rankscore=0.042;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0309;ExAC_nontcga_ALL=0.0320;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0.0445;ExAC_nontcga_SAS=0.0760;AF=0.0250;AF_popmax=0.0376;AF_male=0.0236;AF_female=0.0267;AF_raw=0.0251;AF_afr=0.0052;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0376;AF_fin=0.0282;AF_asj=0.0138;AF_oth=0.0409;non_topmed_AF_popmax=0.0400;non_neuro_AF_popmax=0.0378;non_cancer_AF_popmax=.;controls_AF_popmax=0.0425;Kaviar_AF=0.0289453;Kaviar_AC=4475;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559450 rs186870748 G A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=12727;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20971A:p.G6991R,OBSCN:NM_001271223:exon105:c.G23842A:p.G7948R;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186870748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.345;SIFT_converted_rankscore=0.125;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=0.16;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_converted_rankscore=0.206;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.283;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.143;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.731;CADD_raw_rankscore=0.043;CADD_phred=0.061;DANN_score=0.500;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.110;fathmm-MKL_coding_rankscore=0.162;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.241;Eigen-PC-raw=-1.342;GenoCanyon_score=0.428;GenoCanyon_score_rankscore=0.203;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-0.051;GERP++_RS_rankscore=0.131;phyloP100way_vertebrate=-0.188;phyloP100way_vertebrate_rankscore=0.096;phyloP20way_mammalian=-1.732;phyloP20way_mammalian_rankscore=0.007;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.841;SiPhy_29way_logOdds_rankscore=0.051;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0018;ExAC_nontcga_SAS=0.0022;AF=0.0060;AF_popmax=0.0100;AF_male=0.0056;AF_female=0.0066;AF_raw=0.0061;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0049;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0098;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0088;Kaviar_AF=0.0061901;Kaviar_AC=957;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559654 rs111616349 G A 100 PASS AC=5;AF=0.00499201;AN=214;NS=2504;DP=15434;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21175A:p.G7059S,OBSCN:NM_001271223:exon105:c.G24046A:p.G8016S;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111616349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.244;SIFT_converted_rankscore=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.066;LRT_converted_rankscore=0.022;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.312;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.304;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_rankscore=0.192;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.765;CADD_raw_rankscore=0.273;CADD_phred=14.78;DANN_score=0.396;DANN_rankscore=0.027;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.076;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.800;Eigen-PC-raw=-0.912;GenoCanyon_score=0.531;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.242;phyloP100way_vertebrate_rankscore=0.177;phyloP20way_mammalian=0.082;phyloP20way_mammalian_rankscore=0.190;phastCons100way_vertebrate=0.052;phastCons100way_vertebrate_rankscore=0.213;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=8.478;SiPhy_29way_logOdds_rankscore=0.320;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0152;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0153;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0047;AF=0.0079;AF_popmax=0.0118;AF_male=0.0072;AF_female=0.0088;AF_raw=0.0079;AF_afr=0.0020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0111;AF_fin=0.0072;AF_asj=0.0414;AF_oth=0.0120;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0099287;Kaviar_AC=1535;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559967 rs72762066 C T 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=17026;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21488T:p.P7163L,OBSCN:NM_001271223:exon105:c.C24359T:p.P8120L;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72762066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.906;Polyphen2_HDIV_rankscore=0.480;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_rankscore=0.433;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=0.05;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_converted_rankscore=0.651;PROVEAN_pred=D;VEST3_score=0.152;VEST3_rankscore=0.256;MetaSVM_score=-0.820;MetaSVM_rankscore=0.540;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_rankscore=0.425;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.168;REVEL_rankscore=0.434;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.939;CADD_raw_rankscore=0.414;CADD_phred=22.0;DANN_score=0.978;DANN_rankscore=0.354;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_rankscore=0.152;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.324;Eigen-PC-raw=-0.434;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.19;GERP++_RS_rankscore=0.485;phyloP100way_vertebrate=-0.366;phyloP100way_vertebrate_rankscore=0.076;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=11.890;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0214;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0385;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0.0272;ExAC_nontcga_SAS=0.0073;AF=0.0076;AF_popmax=0.0212;AF_male=0.0083;AF_female=0.0067;AF_raw=0.0076;AF_afr=0.0017;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0023;AF_asj=0.0345;AF_oth=0.0175;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559994 rs500049 C T 100 PASS AC=99;AF=0.589058;AN=214;NS=2504;DP=17715;EAS_AF=0.5625;AMR_AF=0.389;AFR_AF=0.708;EUR_AF=0.504;SAS_AF=0.6851;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;1000g2015aug_all=0.589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs500049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.198;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_converted_rankscore=0.629;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.265;MetaSVM_score=-0.948;MetaSVM_rankscore=0.413;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.792;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.952;DANN_rankscore=0.258;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_rankscore=0.229;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.219;Eigen-PC-raw=-1.133;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.367;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.71;GERP++_RS_rankscore=0.416;phyloP100way_vertebrate=1.536;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.857;phastCons100way_vertebrate_rankscore=0.303;phastCons20way_mammalian=0.317;phastCons20way_mammalian_rankscore=0.240;SiPhy_29way_logOdds=11.612;SiPhy_29way_logOdds_rankscore=0.501;Interpro_domain=.;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Nerve_Tibial|Pancreas|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5033;ExAC_nontcga_ALL=0.6266;ExAC_nontcga_AFR=0.7202;ExAC_nontcga_AMR=0.5290;ExAC_nontcga_EAS=0.6649;ExAC_nontcga_FIN=0.6214;ExAC_nontcga_NFE=0.6059;ExAC_nontcga_OTH=0.5634;ExAC_nontcga_SAS=0.6562;AF=0.5384;AF_popmax=0.6406;AF_male=0.5409;AF_female=0.5352;AF_raw=0.5384;AF_afr=0.6406;AF_sas=.;AF_amr=0.3585;AF_eas=0.5799;AF_nfe=0.5001;AF_fin=0.4882;AF_asj=0.5103;AF_oth=0.5119;non_topmed_AF_popmax=0.6402;non_neuro_AF_popmax=0.6464;non_cancer_AF_popmax=.;controls_AF_popmax=0.6431;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.163612;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 1|1 0|1 1|1 0|0 1|0 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 1|1 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 +1 228560034 rs36119328 C T 100 PASS AC=1;AF=0.013778;AN=214;NS=2504;DP=17422;EAS_AF=0.0575;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21555T:p.Y7185Y,OBSCN:NM_001271223:exon105:c.C24426T:p.Y8142Y;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36119328;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.1050;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0037;AF=0.0041;AF_popmax=0.0635;AF_male=0.0043;AF_female=0.0038;AF_raw=0.0041;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0635;AF_nfe=0.0008;AF_fin=0.0032;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0632;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0042626;Kaviar_AC=659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228560139 rs498382 A G 100 PASS AC=187;AF=0.974241;AN=214;NS=2504;DP=15498;EAS_AF=1;AMR_AF=0.964;AFR_AF=0.9962;EUR_AF=0.9066;SAS_AF=0.9949;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;1000g2015aug_all=0.974241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs498382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9259;ExAC_nontcga_ALL=0.9532;ExAC_nontcga_AFR=0.9872;ExAC_nontcga_AMR=0.9613;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.8924;ExAC_nontcga_NFE=0.9241;ExAC_nontcga_OTH=0.9569;ExAC_nontcga_SAS=0.9881;AF=0.9416;AF_popmax=1;AF_male=0.9438;AF_female=0.9387;AF_raw=0.9413;AF_afr=0.9859;AF_sas=.;AF_amr=0.9598;AF_eas=1;AF_nfe=0.9212;AF_fin=0.8975;AF_asj=0.9236;AF_oth=0.9236;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.502104;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +1 228560251 rs565096750 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16103;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21772C:p.G7258R,OBSCN:NM_001271223:exon105:c.G24643C:p.G8215R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565096750;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-1.28;PROVEAN_converted_rankscore=0.322;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.321;MetaSVM_score=-0.990;MetaSVM_rankscore=0.327;MetaSVM_pred=T;MetaLR_score=0.042;MetaLR_rankscore=0.180;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.501;M-CAP_pred=D;REVEL_score=0.113;REVEL_rankscore=0.323;MutPred_score=0.298;MutPred_rankscore=0.264;CADD_raw=2.276;CADD_raw_rankscore=0.335;CADD_phred=18.01;DANN_score=0.606;DANN_rankscore=0.063;fathmm-MKL_coding_score=0.184;fathmm-MKL_coding_rankscore=0.201;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.588;Eigen-PC-raw=-1.698;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-3.89;GERP++_RS_rankscore=0.039;phyloP100way_vertebrate=0.038;phyloP100way_vertebrate_rankscore=0.136;phyloP20way_mammalian=-1.511;phyloP20way_mammalian_rankscore=0.010;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=11.123;SiPhy_29way_logOdds_rankscore=0.473;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.832e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228560700 rs512253 T C 100 PASS AC=124;AF=0.757987;AN=214;NS=2504;DP=15865;EAS_AF=0.752;AMR_AF=0.6398;AFR_AF=0.9365;EUR_AF=0.5636;SAS_AF=0.8067;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;1000g2015aug_all=0.757987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs512253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5485;ExAC_nontcga_ALL=0.6365;ExAC_nontcga_AFR=0.8911;ExAC_nontcga_AMR=0.6767;ExAC_nontcga_EAS=0.8014;ExAC_nontcga_FIN=0.5118;ExAC_nontcga_NFE=0.5552;ExAC_nontcga_OTH=0.6421;ExAC_nontcga_SAS=0.7634;AF=0.6472;AF_popmax=0.8749;AF_male=0.6524;AF_female=0.6407;AF_raw=0.6473;AF_afr=0.8749;AF_sas=.;AF_amr=0.6359;AF_eas=0.8130;AF_nfe=0.5373;AF_fin=0.5095;AF_asj=0.6552;AF_oth=0.5891;non_topmed_AF_popmax=0.8748;non_neuro_AF_popmax=0.8806;non_cancer_AF_popmax=.;controls_AF_popmax=0.8781;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|1 1|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 1|0 1|1 0|1 0|1 1|0 0|0 1|1 +1 228561779 rs548264768 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=19579;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548264768;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0085;AF_male=0.0049;AF_female=0.0062;AF_raw=0.0055;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0085;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 228562350 rs72762068 T C 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=19099;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.T22560C:p.L7520L,OBSCN:NM_001271223:exon108:c.T25431C:p.L8477L;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72762068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0178;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0305;ExAC_nontcga_NFE=0.0255;ExAC_nontcga_OTH=0.0203;ExAC_nontcga_SAS=0.0079;AF=0.0200;AF_popmax=0.0278;AF_male=0.0202;AF_female=0.0198;AF_raw=0.0201;AF_afr=0.0053;AF_sas=.;AF_amr=0.0142;AF_eas=0.0006;AF_nfe=0.0278;AF_fin=0.0317;AF_asj=0.0174;AF_oth=0.0239;non_topmed_AF_popmax=0.0289;non_neuro_AF_popmax=0.0279;non_cancer_AF_popmax=.;controls_AF_popmax=0.0349;Kaviar_AF=0.0183051;Kaviar_AC=2830;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.305033;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228562523 rs545755422 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17916;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545755422;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228563558 rs148149631 C A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16874;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148149631;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.025e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0015;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228563748 rs539506090 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19689;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon99:c.G22826A:p.C7609Y,OBSCN:NM_001271223:exon110:c.G25697A:p.C8566Y;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539506090;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.675;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.202;Polyphen2_HVAR_rankscore=0.353;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.346;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.434;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_converted_rankscore=0.213;FATHMM_pred=T;PROVEAN_score=-5.87;PROVEAN_converted_rankscore=0.886;PROVEAN_pred=D;VEST3_score=0.416;VEST3_rankscore=0.618;MetaSVM_score=-1.098;MetaSVM_rankscore=0.043;MetaSVM_pred=T;MetaLR_score=0.062;MetaLR_rankscore=0.260;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.417;M-CAP_pred=T;REVEL_score=0.237;REVEL_rankscore=0.545;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.122;CADD_raw_rankscore=0.844;CADD_phred=28.3;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.938;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.367;Eigen-PC-raw=0.447;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=5.21;GERP++_RS_rankscore=0.719;phyloP100way_vertebrate=7.372;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.945;SiPhy_29way_logOdds_rankscore=0.926;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0018;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.192e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.913305;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564757 rs144017124 C T 100 PASS AC=1;AF=0.00878594;AN=214;NS=2504;DP=15566;EAS_AF=0.0139;AMR_AF=0.0331;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.C23044T:p.R7682C,OBSCN:NM_001271223:exon112:c.C25915T:p.R8639C;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144017124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.73;MutationAssessor_score_rankscore=0.801;MutationAssessor_pred=M;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-4.65;PROVEAN_converted_rankscore=0.794;PROVEAN_pred=D;VEST3_score=0.378;VEST3_rankscore=0.535;MetaSVM_score=-0.631;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.129;MetaLR_rankscore=0.438;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.401;REVEL_rankscore=0.718;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.283;CADD_raw_rankscore=0.868;CADD_phred=29.1;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.968;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.631;Eigen-PC-raw=0.534;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.52;GERP++_RS_rankscore=0.546;phyloP100way_vertebrate=7.666;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=17.599;SiPhy_29way_logOdds_rankscore=0.879;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.1127;ExAC_nontcga_EAS=0.0432;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.012;ExAC_nontcga_SAS=0.0011;AF=0.0021;AF_popmax=0.0389;AF_male=0.0022;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0.0389;AF_eas=0.0135;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0048059;Kaviar_AC=743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564796 rs559110117 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15365;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23083A:p.G7695R,OBSCN:NM_001271223:exon112:c.G25954A:p.G8652R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559110117;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.115;Polyphen2_HDIV_rankscore=0.249;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.968;MutationTaster_converted_rankscore=0.266;MutationTaster_pred=N;MutationAssessor_score=2.55;MutationAssessor_score_rankscore=0.747;MutationAssessor_pred=M;FATHMM_score=0.64;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-3.8;PROVEAN_converted_rankscore=0.717;PROVEAN_pred=D;VEST3_score=0.169;VEST3_rankscore=0.462;MetaSVM_score=-0.402;MetaSVM_rankscore=0.720;MetaSVM_pred=T;MetaLR_score=0.368;MetaLR_rankscore=0.728;MetaLR_pred=T;M-CAP_score=0.116;M-CAP_rankscore=0.797;M-CAP_pred=D;REVEL_score=0.252;REVEL_rankscore=0.566;MutPred_score=0.623;MutPred_rankscore=0.758;CADD_raw=4.260;CADD_raw_rankscore=0.571;CADD_phred=23.9;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.512;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.509;Eigen-PC-raw=-0.569;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.9;GERP++_RS_rankscore=0.441;phyloP100way_vertebrate=5.109;phyloP100way_vertebrate_rankscore=0.642;phyloP20way_mammalian=0.094;phyloP20way_mammalian_rankscore=0.197;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.312;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=16.183;SiPhy_29way_logOdds_rankscore=0.817;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.29e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.476e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=8.12e-05;AF=3.192e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564884 rs56174824 G A 100 PASS AC=17;AF=0.140775;AN=214;NS=2504;DP=16390;EAS_AF=0.3085;AMR_AF=0.0432;AFR_AF=0.0983;EUR_AF=0.0974;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23171A:p.R7724H,OBSCN:NM_001271223:exon112:c.G26042A:p.R8681H;1000g2015aug_all=0.140775;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56174824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=P;MutationAssessor_score=0.03;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_converted_rankscore=0.405;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.281;MetaSVM_score=-1.004;MetaSVM_rankscore=0.288;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.076;REVEL_rankscore=0.227;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.749;CADD_raw_rankscore=0.271;CADD_phred=14.69;DANN_score=0.808;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.170;fathmm-MKL_coding_rankscore=0.194;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.040;Eigen-PC-raw=-0.945;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.388;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-2.4;GERP++_RS_rankscore=0.062;phyloP100way_vertebrate=0.867;phyloP100way_vertebrate_rankscore=0.274;phyloP20way_mammalian=-0.765;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.334;phastCons100way_vertebrate_rankscore=0.254;phastCons20way_mammalian=0.973;phastCons20way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=11.412;SiPhy_29way_logOdds_rankscore=0.490;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=ENSG00000154342.4|ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0847;ExAC_nontcga_ALL=0.1711;ExAC_nontcga_AFR=0.1653;ExAC_nontcga_AMR=0.0631;ExAC_nontcga_EAS=0.4233;ExAC_nontcga_FIN=0.2601;ExAC_nontcga_NFE=0.1456;ExAC_nontcga_OTH=0.1887;ExAC_nontcga_SAS=0.1619;AF=0.1225;AF_popmax=0.3149;AF_male=0.1212;AF_female=0.1241;AF_raw=0.1224;AF_afr=0.1080;AF_sas=.;AF_amr=0.0472;AF_eas=0.3149;AF_nfe=0.0993;AF_fin=0.1912;AF_asj=0.1069;AF_oth=0.1342;non_topmed_AF_popmax=0.3109;non_neuro_AF_popmax=0.3149;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.101926;Kaviar_AC=15758;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228565208 rs55755045 C T 100 PASS AC=2;AF=0.0117812;AN=214;NS=2504;DP=18707;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0045;EUR_AF=0.0288;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.C23298T:p.S7766S,OBSCN:NM_001271223:exon113:c.C26169T:p.S8723S;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55755045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0354;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0070;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0314;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0214;ExAC_nontcga_SAS=0.0254;AF=0.0274;AF_popmax=0.0428;AF_male=0.0261;AF_female=0.0291;AF_raw=0.0274;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0428;AF_fin=0.0242;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.0428;non_neuro_AF_popmax=0.0438;non_cancer_AF_popmax=.;controls_AF_popmax=0.0470;Kaviar_AF=0.0264744;Kaviar_AC=4093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565209 rs182714476 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18716;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23299A:p.E7767K,OBSCN:NM_001271223:exon113:c.G26170A:p.E8724K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182714476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.540;MutationTaster_converted_rankscore=0.330;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.466;PROVEAN_pred=N;VEST3_score=0.177;VEST3_rankscore=0.472;MetaSVM_score=-0.527;MetaSVM_rankscore=0.677;MetaSVM_pred=T;MetaLR_score=0.326;MetaLR_rankscore=0.694;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.313;REVEL_rankscore=0.639;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.258;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.995;DANN_rankscore=0.690;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_rankscore=0.585;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.176;Eigen-PC-raw=0.215;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.93;GERP++_RS_rankscore=0.643;phyloP100way_vertebrate=3.946;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=0.985;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.939;phastCons20way_mammalian_rankscore=0.413;SiPhy_29way_logOdds=18.135;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0035;ExAC_nontcga_SAS=0.0012;AF=0.0004;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011513;Kaviar_AC=178;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565255 rs535313248 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.T23345C:p.L7782P,OBSCN:NM_001271223:exon113:c.T26216C:p.L8739P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535313248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=4.34;MutationAssessor_score_rankscore=0.985;MutationAssessor_pred=H;FATHMM_score=0.07;FATHMM_converted_rankscore=0.617;FATHMM_pred=T;PROVEAN_score=-3.79;PROVEAN_converted_rankscore=0.716;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.825;MetaSVM_score=0.362;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.525;MetaLR_rankscore=0.823;MetaLR_pred=D;M-CAP_score=0.218;M-CAP_rankscore=0.877;M-CAP_pred=D;REVEL_score=0.670;REVEL_rankscore=0.879;MutPred_score=0.957;MutPred_rankscore=0.995;CADD_raw=5.069;CADD_raw_rankscore=0.683;CADD_phred=25.3;DANN_score=0.973;DANN_rankscore=0.329;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.757;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.750;Eigen-PC-raw=0.606;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=7.891;phyloP100way_vertebrate_rankscore=0.857;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.880;phastCons20way_mammalian_rankscore=0.369;SiPhy_29way_logOdds=14.949;SiPhy_29way_logOdds_rankscore=0.706;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565311 rs375985616 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23401A:p.E7801K,OBSCN:NM_001271223:exon113:c.G26272A:p.E8758K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375985616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_rankscore=0.609;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.773;MutationTaster_converted_rankscore=0.303;MutationTaster_pred=N;MutationAssessor_score=1.095;MutationAssessor_score_rankscore=0.275;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-2.05;PROVEAN_converted_rankscore=0.470;PROVEAN_pred=N;VEST3_score=0.325;VEST3_rankscore=0.423;MetaSVM_score=-0.778;MetaSVM_rankscore=0.565;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_rankscore=0.594;MetaLR_pred=T;M-CAP_score=0.234;M-CAP_rankscore=0.884;M-CAP_pred=D;REVEL_score=0.331;REVEL_rankscore=0.657;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.702;CADD_raw_rankscore=0.917;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.713;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.659;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.053;Eigen-PC-raw=0.072;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.22;GERP++_RS_rankscore=0.490;phyloP100way_vertebrate=6.727;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=0.982;phyloP20way_mammalian_rankscore=0.598;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.862;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=15.692;SiPhy_29way_logOdds_rankscore=0.771;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.568e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.189e-05;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.017004;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 228565329 rs61730829 G A 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=21484;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23419A:p.V7807I,OBSCN:NM_001271223:exon113:c.G26290A:p.V8764I;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61730829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.461;SIFT_converted_rankscore=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=N;MutationAssessor_score=-1.35;MutationAssessor_score_rankscore=0.007;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_converted_rankscore=0.340;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_converted_rankscore=0.082;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.386;MetaSVM_score=-0.978;MetaSVM_rankscore=0.354;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.044;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.334;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.599;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.938;Eigen-PC-raw=-0.742;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.374;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=0.569;GERP++_RS_rankscore=0.165;phyloP100way_vertebrate=1.530;phyloP100way_vertebrate_rankscore=0.354;phyloP20way_mammalian=-0.310;phyloP20way_mammalian_rankscore=0.079;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.347;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=5.117;SiPhy_29way_logOdds_rankscore=0.141;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0231;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0257;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0017;AF=0.0136;AF_popmax=0.0178;AF_male=0.0130;AF_female=0.0142;AF_raw=0.0136;AF_afr=0.0043;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0178;AF_fin=0.0222;AF_asj=0.0207;AF_oth=0.0193;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0172;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0152197;Kaviar_AC=2353;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.583646;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565445 rs3738687 C A 100 PASS AC=17;AF=0.124201;AN=214;NS=2504;DP=17094;EAS_AF=0.3105;AMR_AF=0.0403;AFR_AF=0.0371;EUR_AF=0.0974;SAS_AF=0.137;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.124201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738687;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0852;ExAC_nontcga_ALL=0.1209;ExAC_nontcga_AFR=0.0516;ExAC_nontcga_AMR=0.0358;ExAC_nontcga_EAS=0.3360;ExAC_nontcga_FIN=0.1999;ExAC_nontcga_NFE=0.1002;ExAC_nontcga_OTH=0.1389;ExAC_nontcga_SAS=0.1507;AF=0.1059;AF_popmax=0.3140;AF_male=0.1038;AF_female=0.1087;AF_raw=0.1060;AF_afr=0.0532;AF_sas=.;AF_amr=0.0413;AF_eas=0.3140;AF_nfe=0.0975;AF_fin=0.1909;AF_asj=0.1;AF_oth=0.1296;non_topmed_AF_popmax=0.3100;non_neuro_AF_popmax=0.3140;non_cancer_AF_popmax=.;controls_AF_popmax=0.3147;Kaviar_AF=0.104604;Kaviar_AC=16172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228565556 rs145605408 T G 100 PASS AC=3;AF=0.00479233;AN=214;NS=2504;DP=17653;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0082;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145605408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0083;AF_popmax=0.0108;AF_male=0.0083;AF_female=0.0083;AF_raw=0.0083;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0204;AF_asj=0.0034;AF_oth=0.0111;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145605408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0083;AF_popmax=0.0108;AF_male=0.0083;AF_female=0.0083;AF_raw=0.0083;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0204;AF_asj=0.0034;AF_oth=0.0111;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565826 rs34510358 T C 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=11559;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34510358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0112;AF_popmax=0.0164;AF_male=0.0119;AF_female=0.0105;AF_raw=0.0112;AF_afr=0.0044;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0164;AF_fin=0.0119;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0119;Kaviar_AF=0.010604;Kaviar_AC=276;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34510358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0112;AF_popmax=0.0164;AF_male=0.0119;AF_female=0.0105;AF_raw=0.0112;AF_afr=0.0044;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0164;AF_fin=0.0119;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0119;Kaviar_AF=0.010604;Kaviar_AC=276;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228566528 rs147604939 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12347;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=OBSCN;GeneDetail.refGene=NM_001271223:c.*32G>A\x3bNM_001098623:c.*32G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147604939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.164e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.218e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 229567663 rs398123565;rs6673359;rs398123565 C GG 100 PASS AC=43;AF=0.129393;AN=214;NS=2504;DP=9716;EAS_AF=0.1607;AMR_AF=0.1081;AFR_AF=0.0968;EUR_AF=0.1571;SAS_AF=0.1278;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876657420;CLNALLELEID=228354;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559150;ALLELE_END GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229567683 rs59228224 TC T 100 PASS AC=43;AF=0.209465;AN=214;NS=2504;DP=8674;EAS_AF=0.1607;AMR_AF=0.2925;AFR_AF=0.2844;EUR_AF=0.172;SAS_AF=0.138;AA=C|C|-|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59228224;CLNALLELEID=99459;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1609;ExAC_nontcga_ALL=0.1694;ExAC_nontcga_AFR=0.2639;ExAC_nontcga_AMR=0.2453;ExAC_nontcga_EAS=0.1558;ExAC_nontcga_FIN=0.0988;ExAC_nontcga_NFE=0.1561;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1490;AF=0.1942;AF_popmax=0.2790;AF_male=0.1974;AF_female=0.1902;AF_raw=0.1965;AF_afr=0.2790;AF_sas=.;AF_amr=0.2715;AF_eas=0.1744;AF_nfe=0.1611;AF_fin=0.1238;AF_asj=0.2695;AF_oth=0.1560;non_topmed_AF_popmax=0.2797;non_neuro_AF_popmax=0.2799;non_cancer_AF_popmax=.;controls_AF_popmax=0.2804;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.586072;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59228224;CLNALLELEID=99459;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1609;ExAC_nontcga_ALL=0.1694;ExAC_nontcga_AFR=0.2639;ExAC_nontcga_AMR=0.2453;ExAC_nontcga_EAS=0.1558;ExAC_nontcga_FIN=0.0988;ExAC_nontcga_NFE=0.1561;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1490;AF=0.1942;AF_popmax=0.2790;AF_male=0.1974;AF_female=0.1902;AF_raw=0.1965;AF_afr=0.2790;AF_sas=.;AF_amr=0.2715;AF_eas=0.1744;AF_nfe=0.1611;AF_fin=0.1238;AF_asj=0.2695;AF_oth=0.1560;non_topmed_AF_popmax=0.2797;non_neuro_AF_popmax=0.2799;non_cancer_AF_popmax=.;controls_AF_popmax=0.2804;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.586072;ALLELE_END GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229567826 rs542109877 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10867;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTA1:NM_001100:exon5:c.C723T:p.S241S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542109877;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.425e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.19e-05;AF_popmax=6.488e-05;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.939397;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 229568231 rs527621 T G 100 PASS AC=213;AF=0.999002;AN=214;NS=2504;DP=3486;EAS_AF=0.999;AMR_AF=0.9971;AFR_AF=1;EUR_AF=0.999;SAS_AF=0.999;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.999002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9992;AF_popmax=1;AF_male=0.9990;AF_female=0.9994;AF_raw=0.9991;AF_afr=0.9999;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9994;AF_fin=0.9994;AF_asj=0.9659;AF_oth=0.9980;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938431|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.588790;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 229568300 rs200976037 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=4699;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200976037;CLNALLELEID=280964;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.6445;dbscSNV_RF_SCORE=0.462;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=4.105e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=5.89e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.445e-05;AF_popmax=0.0001;AF_male=5.798e-05;AF_female=7.254e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.193e-05;non_neuro_AF_popmax=7.438e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938431|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.849690;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 229568632 rs11803533 A G 100 PASS AC=44;AF=0.273962;AN=214;NS=2504;DP=13128;EAS_AF=0.1637;AMR_AF=0.3098;AFR_AF=0.503;EUR_AF=0.1779;SAS_AF=0.1513;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11803533;CLNALLELEID=99452;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.1807;ExAC_nontcga_ALL=0.2085;ExAC_nontcga_AFR=0.4689;ExAC_nontcga_AMR=0.2686;ExAC_nontcga_EAS=0.1726;ExAC_nontcga_FIN=0.1157;ExAC_nontcga_NFE=0.1806;ExAC_nontcga_OTH=0.1720;ExAC_nontcga_SAS=0.1755;AF=0.2491;AF_popmax=0.4744;AF_male=0.2559;AF_female=0.2405;AF_raw=0.2505;AF_afr=0.4744;AF_sas=.;AF_amr=0.2766;AF_eas=0.1767;AF_nfe=0.1623;AF_fin=0.1181;AF_asj=0.2966;AF_oth=0.1685;non_topmed_AF_popmax=0.4742;non_neuro_AF_popmax=0.4723;non_cancer_AF_popmax=.;controls_AF_popmax=0.4667;Kaviar_AF=0.204376;Kaviar_AC=31597;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.219697::0.50349;Heart_Left_Ventricle=Heart_Left_Ventricle::0.204044::0.440228;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613966;ALLELE_END GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229568637 rs41271481 C G 100 PASS AC=44;AF=0.211861;AN=214;NS=2504;DP=13058;EAS_AF=0.1607;AMR_AF=0.2925;AFR_AF=0.292;EUR_AF=0.173;SAS_AF=0.1391;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41271481;CLNALLELEID=99451;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.086;esp6500siv2_ea=0.1751;ExAC_nontcga_ALL=0.1865;ExAC_nontcga_AFR=0.2763;ExAC_nontcga_AMR=0.2569;ExAC_nontcga_EAS=0.1717;ExAC_nontcga_FIN=0.1158;ExAC_nontcga_NFE=0.1768;ExAC_nontcga_OTH=0.1623;ExAC_nontcga_SAS=0.1591;AF=0.1940;AF_popmax=0.2827;AF_male=0.1992;AF_female=0.1875;AF_raw=0.1955;AF_afr=0.2827;AF_sas=.;AF_amr=0.2695;AF_eas=0.1757;AF_nfe=0.1605;AF_fin=0.1175;AF_asj=0.2724;AF_oth=0.1525;non_topmed_AF_popmax=0.2834;non_neuro_AF_popmax=0.2836;non_cancer_AF_popmax=.;controls_AF_popmax=0.2854;Kaviar_AF=0.183335;Kaviar_AC=28344;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.191288::0.567795;Heart_Left_Ventricle=Heart_Left_Ventricle::0.172794::0.489378;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613966;ALLELE_END GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 236849952 rs138279482 C T 100 PASS AC=11;AF=0.0115815;AN=214;NS=2504;DP=6104;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0378;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=ACTN2;GeneDetail.refGene=NM_001278343:c.-22C>T\x3bNM_001103:c.-22C>T\x3bNM_001278344:c.-49021C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138279482;CLNALLELEID=139990;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0252;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0192;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0103;ExAC_nontcga_NFE=0.0376;ExAC_nontcga_OTH=0.0300;ExAC_nontcga_SAS=0.0163;AF=0.0208;AF_popmax=0.0316;AF_male=0.0209;AF_female=0.0208;AF_raw=0.0208;AF_afr=0.0073;AF_sas=.;AF_amr=0.0224;AF_eas=0.0013;AF_nfe=0.0316;AF_fin=0.0116;AF_asj=0.0638;AF_oth=0.0197;non_topmed_AF_popmax=0.0300;non_neuro_AF_popmax=0.0304;non_cancer_AF_popmax=.;controls_AF_popmax=0.0242;Kaviar_AF=0.0243076;Kaviar_AC=3758;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497882|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.706106;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 236849999 rs121434525 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7220;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon1:c.A26G:p.Q9R,ACTN2:NM_001278343:exon1:c.A26G:p.Q9R;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121434525;CLNALLELEID=33352;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.188;SIFT_converted_rankscore=0.213;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_converted_rankscore=0.051;LRT_pred=N;MutationTaster_score=0.576;MutationTaster_converted_rankscore=0.323;MutationTaster_pred=A;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.22;FATHMM_converted_rankscore=0.788;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.723;VEST3_rankscore=0.723;MetaSVM_score=-0.840;MetaSVM_rankscore=0.527;MetaSVM_pred=T;MetaLR_score=0.235;MetaLR_rankscore=0.602;MetaLR_pred=T;M-CAP_score=0.593;M-CAP_rankscore=0.964;M-CAP_pred=D;REVEL_score=0.357;REVEL_rankscore=0.681;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.768;CADD_raw_rankscore=0.273;CADD_phred=14.80;DANN_score=0.984;DANN_rankscore=0.410;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.340;Eigen-PC-raw=-0.152;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=3.74;GERP++_RS_rankscore=0.419;phyloP100way_vertebrate=4.693;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=1.086;phyloP20way_mammalian_rankscore=0.855;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.056;SiPhy_29way_logOdds_rankscore=0.354;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0014;AF_male=0.0008;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497882|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.831313;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236881185 rs199910162 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20535;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon2:c.C154T:p.L52L,ACTN2:NM_001278343:exon2:c.C154T:p.L52L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199910162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.535e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696288;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236882303 rs1341864 T C 100 PASS AC=214;AF=0.992612;AN=214;NS=2504;DP=20349;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.975;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;1000g2015aug_all=0.992612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341864;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9979;ExAC_nontcga_AFR=0.9765;ExAC_nontcga_AMR=0.9991;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9999;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9933;AF_popmax=1;AF_male=0.9928;AF_female=0.9940;AF_raw=0.9933;AF_afr=0.9763;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.683489;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883421 rs1341863 C T 100 PASS AC=214;AF=0.920727;AN=214;NS=2504;DP=18511;EAS_AF=0.9831;AMR_AF=0.8559;AFR_AF=0.8139;EUR_AF=0.996;SAS_AF=0.9693;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N;1000g2015aug_all=0.920727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341863;CLNALLELEID=53107;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9953;ExAC_nontcga_ALL=0.9603;ExAC_nontcga_AFR=0.8166;ExAC_nontcga_AMR=0.8605;ExAC_nontcga_EAS=0.9803;ExAC_nontcga_FIN=0.9868;ExAC_nontcga_NFE=0.9955;ExAC_nontcga_OTH=0.9755;ExAC_nontcga_SAS=0.9704;AF=0.9376;AF_popmax=0.9946;AF_male=0.9359;AF_female=0.9398;AF_raw=0.9375;AF_afr=0.8075;AF_sas=.;AF_amr=0.8913;AF_eas=0.9775;AF_nfe=0.9946;AF_fin=0.9868;AF_asj=1;AF_oth=0.9752;non_topmed_AF_popmax=0.9940;non_neuro_AF_popmax=0.9948;non_cancer_AF_popmax=.;controls_AF_popmax=0.9937;Kaviar_AF=0.949224;Kaviar_AC=146752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.617908;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883564 rs1341862 G A 100 PASS AC=214;AF=0.922324;AN=214;NS=2504;DP=18946;EAS_AF=0.9831;AMR_AF=0.8573;AFR_AF=0.8192;EUR_AF=0.996;SAS_AF=0.9693;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.922324;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9394;AF_popmax=0.9946;AF_male=0.9382;AF_female=0.9409;AF_raw=0.9394;AF_afr=0.8141;AF_sas=.;AF_amr=0.8915;AF_eas=0.9775;AF_nfe=0.9946;AF_fin=0.9868;AF_asj=1;AF_oth=0.9752;non_topmed_AF_popmax=0.9940;non_neuro_AF_popmax=0.9948;non_cancer_AF_popmax=.;controls_AF_popmax=0.9937;Kaviar_AF=0.186459;Kaviar_AC=28827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.650803;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883585 rs143503216 T G 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=18463;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143503216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0071;AF_male=0.0042;AF_female=0.0045;AF_raw=0.0043;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0046;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.772872;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 236894647 rs819640 G A 100 PASS AC=69;AF=0.491613;AN=214;NS=2504;DP=16833;EAS_AF=0.5595;AMR_AF=0.3516;AFR_AF=0.6006;EUR_AF=0.3111;SAS_AF=0.5593;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.491613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs819640;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3102;ExAC_nontcga_ALL=0.3922;ExAC_nontcga_AFR=0.5665;ExAC_nontcga_AMR=0.3982;ExAC_nontcga_EAS=0.5513;ExAC_nontcga_FIN=0.2963;ExAC_nontcga_NFE=0.3119;ExAC_nontcga_OTH=0.3454;ExAC_nontcga_SAS=0.5216;AF=0.3840;AF_popmax=0.5595;AF_male=0.3911;AF_female=0.3751;AF_raw=0.3838;AF_afr=0.5595;AF_sas=.;AF_amr=0.3597;AF_eas=0.5457;AF_nfe=0.2910;AF_fin=0.3022;AF_asj=0.3724;AF_oth=0.3506;non_topmed_AF_popmax=0.5604;non_neuro_AF_popmax=0.5621;non_cancer_AF_popmax=.;controls_AF_popmax=0.5715;Kaviar_AF=0.375403;Kaviar_AC=58038;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.564112;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|1 1|1 1|1 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 +1 236894667 rs377331254 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16796;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377331254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236899042 rs2288600 G A 100 PASS AC=25;AF=0.195887;AN=214;NS=2504;DP=19031;EAS_AF=0.1935;AMR_AF=0.1686;AFR_AF=0.2216;EUR_AF=0.1282;SAS_AF=0.2526;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195887;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288600;CLNALLELEID=172789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1690;ExAC_nontcga_AFR=0.2021;ExAC_nontcga_AMR=0.2211;ExAC_nontcga_EAS=0.1997;ExAC_nontcga_FIN=0.1389;ExAC_nontcga_NFE=0.1382;ExAC_nontcga_OTH=0.1331;ExAC_nontcga_SAS=0.2158;AF=0.1537;AF_popmax=0.1996;AF_male=0.1552;AF_female=0.1518;AF_raw=0.1536;AF_afr=0.1996;AF_sas=.;AF_amr=0.1856;AF_eas=0.1913;AF_nfe=0.1255;AF_fin=0.1488;AF_asj=0.1;AF_oth=0.1369;non_topmed_AF_popmax=0.1996;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2077;Kaviar_AF=0.15646;Kaviar_AC=24189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.899984;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 +1 236900334 rs1560314 C T 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=16058;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1560314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236900554 rs148335592 C T 100 PASS AC=4;AF=0.00539137;AN=214;NS=2504;DP=11818;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148335592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0130;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0093;ExAC_nontcga_NFE=0.0226;ExAC_nontcga_OTH=0.0122;ExAC_nontcga_SAS=0.0030;AF=0.0138;AF_popmax=0.0227;AF_male=0.0146;AF_female=0.0127;AF_raw=0.0145;AF_afr=0.0043;AF_sas=.;AF_amr=0.0127;AF_eas=0;AF_nfe=0.0227;AF_fin=0.0075;AF_asj=0.0447;AF_oth=0.0104;non_topmed_AF_popmax=0.0226;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.0166;Kaviar_AF=0.0153879;Kaviar_AC=2379;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497883|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.362508;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236900598 rs7521191 C T 100 PASS AC=158;AF=0.531949;AN=214;NS=2504;DP=8408;EAS_AF=0.4861;AMR_AF=0.6628;AFR_AF=0.3631;EUR_AF=0.7197;SAS_AF=0.5215;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.531949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7521191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4007;AF_popmax=0.5332;AF_male=0.4026;AF_female=0.3984;AF_raw=0.4933;AF_afr=0.2949;AF_sas=.;AF_amr=0.3504;AF_eas=0.3911;AF_nfe=0.5332;AF_fin=0.3102;AF_asj=0.5490;AF_oth=0.4660;non_topmed_AF_popmax=0.5201;non_neuro_AF_popmax=0.5318;non_cancer_AF_popmax=.;controls_AF_popmax=0.4770;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497883|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 0|0 +1 236902532 rs34704730 ATT A 100 PASS AC=8;AF=0.0509185;AN=214;NS=2504;DP=18621;EAS_AF=0.0675;AMR_AF=0.0274;AFR_AF=0.0303;EUR_AF=0.0388;SAS_AF=0.091;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34704730;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0592;AF_popmax=0.1103;AF_male=0.0585;AF_female=0.0601;AF_raw=0.0494;AF_afr=0.0377;AF_sas=.;AF_amr=0.0421;AF_eas=0.1103;AF_nfe=0.0602;AF_fin=0.1047;AF_asj=0.0868;AF_oth=0.0742;non_topmed_AF_popmax=0.1108;non_neuro_AF_popmax=0.1103;non_cancer_AF_popmax=.;controls_AF_popmax=0.1131;Kaviar_AF=0.0096819;Kaviar_AC=252;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236902560 rs7527525 C G,T 100 PASS AC=8,127;AF=0.0499201,0.372404;AN=214;NS=2504;DP=16947;EAS_AF=0.0675,0.4038;AMR_AF=0.0274,0.4539;AFR_AF=0.0287,0.0893;EUR_AF=0.0388,0.6133;SAS_AF=0.0879,0.4172;AA=T|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7527525;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0618;ExAC_nontcga_AFR=0.0325;ExAC_nontcga_AMR=0.0243;ExAC_nontcga_EAS=0.0922;ExAC_nontcga_FIN=0.0459;ExAC_nontcga_NFE=0.0614;ExAC_nontcga_OTH=0.0708;ExAC_nontcga_SAS=0.0953;AF=0.0484;AF_popmax=0.1050;AF_male=0.0484;AF_female=0.0484;AF_raw=0.0484;AF_afr=0.0344;AF_sas=.;AF_amr=0.0274;AF_eas=0.1050;AF_nfe=0.0513;AF_fin=0.0463;AF_asj=0.0724;AF_oth=0.0535;non_topmed_AF_popmax=0.1057;non_neuro_AF_popmax=0.1050;non_cancer_AF_popmax=.;controls_AF_popmax=0.1066;Kaviar_AF=0.0566228;Kaviar_AC=8754;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.372404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7527525;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6395;ExAC_nontcga_ALL=0.5113;ExAC_nontcga_AFR=0.1503;ExAC_nontcga_AMR=0.4381;ExAC_nontcga_EAS=0.4122;ExAC_nontcga_FIN=0.6424;ExAC_nontcga_NFE=0.5992;ExAC_nontcga_OTH=0.5824;ExAC_nontcga_SAS=0.4460;AF=0.4791;AF_popmax=0.6298;AF_male=0.4729;AF_female=0.4870;AF_raw=0.4784;AF_afr=0.1504;AF_sas=.;AF_amr=0.4702;AF_eas=0.4143;AF_nfe=0.6298;AF_fin=0.6319;AF_asj=0.5759;AF_oth=0.5618;non_topmed_AF_popmax=0.6345;non_neuro_AF_popmax=0.6301;non_cancer_AF_popmax=.;controls_AF_popmax=0.6432;Kaviar_AF=0.500272;Kaviar_AC=77343;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|2 2|2 2|2 2|0 2|2 1|2 0|0 2|2 0|0 0|2 2|2 0|2 2|2 0|0 2|2 0|0 2|0 2|2 0|2 1|2 2|0 2|2 2|2 2|2 2|2 0|2 0|0 0|0 1|2 0|2 2|0 2|0 0|2 0|2 2|2 0|2 2|2 0|0 2|2 0|0 2|0 2|2 0|0 2|2 2|2 0|0 0|2 2|2 2|0 0|2 0|0 2|1 2|2 2|1 2|0 2|0 0|0 2|2 0|0 1|2 0|0 2|0 2|2 1|1 2|0 2|2 2|0 0|0 2|2 0|2 0|2 2|2 2|0 2|0 2|2 2|2 2|2 2|0 2|0 2|2 2|0 2|2 0|0 0|2 2|2 2|2 2|2 2|2 2|0 2|2 2|2 0|0 2|0 2|2 2|2 0|0 2|2 0|2 0|0 0|2 0|2 0|0 2|2 0|0 2|2 2|2 0|0 +1 236902594 rs2288601 C G 100 PASS AC=172;AF=0.767572;AN=214;NS=2504;DP=17586;EAS_AF=0.7837;AMR_AF=0.7853;AFR_AF=0.764;EUR_AF=0.7753;SAS_AF=0.7352;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.767572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288601;CLNALLELEID=53119;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.3121;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7763;ExAC_nontcga_ALL=0.7757;ExAC_nontcga_AFR=0.7868;ExAC_nontcga_AMR=0.7441;ExAC_nontcga_EAS=0.7994;ExAC_nontcga_FIN=0.8076;ExAC_nontcga_NFE=0.7758;ExAC_nontcga_OTH=0.8026;ExAC_nontcga_SAS=0.7655;AF=0.7854;AF_popmax=0.8065;AF_male=0.7847;AF_female=0.7863;AF_raw=0.7843;AF_afr=0.7791;AF_sas=.;AF_amr=0.7535;AF_eas=0.8065;AF_nfe=0.7883;AF_fin=0.7888;AF_asj=0.7828;AF_oth=0.7795;non_topmed_AF_popmax=0.8069;non_neuro_AF_popmax=0.8065;non_cancer_AF_popmax=.;controls_AF_popmax=0.8238;Kaviar_AF=0.763173;Kaviar_AC=117988;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688691;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|0 +1 236902865 rs2288602 A C 100 PASS AC=134;AF=0.422724;AN=214;NS=2504;DP=19686;EAS_AF=0.4802;AMR_AF=0.4755;AFR_AF=0.1172;EUR_AF=0.6501;SAS_AF=0.5051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.422724;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6570;ExAC_nontcga_ALL=0.5821;ExAC_nontcga_AFR=0.1935;ExAC_nontcga_AMR=0.4812;ExAC_nontcga_EAS=0.5283;ExAC_nontcga_FIN=0.6912;ExAC_nontcga_NFE=0.6662;ExAC_nontcga_OTH=0.6570;ExAC_nontcga_SAS=0.5541;AF=0.5279;AF_popmax=0.6814;AF_male=0.5214;AF_female=0.5362;AF_raw=0.5281;AF_afr=0.1858;AF_sas=.;AF_amr=0.4965;AF_eas=0.5259;AF_nfe=0.6814;AF_fin=0.6766;AF_asj=0.6483;AF_oth=0.6160;non_topmed_AF_popmax=0.6869;non_neuro_AF_popmax=0.6803;non_cancer_AF_popmax=.;controls_AF_popmax=0.6943;Kaviar_AF=0.559702;Kaviar_AC=86531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 0|0 0|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 0|0 +1 236907966 rs35956798 G A 100 PASS AC=3;AF=0.0347444;AN=214;NS=2504;DP=20071;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1165;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.G1296A:p.A432A,ACTN2:NM_001278343:exon12:c.G1296A:p.A432A,ACTN2:NM_001278344:exon14:c.G672A:p.A224A;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35956798;CLNALLELEID=53068;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0144;ExAC_nontcga_ALL=0.0176;ExAC_nontcga_AFR=0.1193;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0049;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0033;AF=0.0420;AF_popmax=0.1261;AF_male=0.0446;AF_female=0.0388;AF_raw=0.0420;AF_afr=0.1261;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.1263;non_neuro_AF_popmax=0.1213;non_cancer_AF_popmax=.;controls_AF_popmax=0.1243;Kaviar_AF=0.0180399;Kaviar_AC=2789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.379015;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908011 rs34785693 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19247;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.C1341T:p.F447F,ACTN2:NM_001278343:exon12:c.C1341T:p.F447F,ACTN2:NM_001278344:exon14:c.C717T:p.F239F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34785693;CLNALLELEID=53071;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0015;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0024;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.002348;Kaviar_AC=363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802534;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908053 rs34827377 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.C1383T:p.I461I,ACTN2:NM_001278343:exon12:c.C1383T:p.I461I,ACTN2:NM_001278344:exon14:c.C759T:p.I253I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34827377;CLNALLELEID=53073;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=0.0008;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0009767;Kaviar_AC=151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.745310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908144 rs78539646 T C 100 PASS AC=3;AF=0.0189696;AN=214;NS=2504;DP=18372;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.059;EUR_AF=0.0089;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78539646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0215;AF_popmax=0.0540;AF_male=0.0221;AF_female=0.0208;AF_raw=0.0215;AF_afr=0.0540;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0540;non_neuro_AF_popmax=0.0538;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0026714;Kaviar_AC=413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911045 rs201179281 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon13:c.G1485A:p.T495T,ACTN2:NM_001278343:exon13:c.G1485A:p.T495T,ACTN2:NM_001278344:exon15:c.G861A:p.T287T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201179281;CLNALLELEID=172532;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.875e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.559e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.481e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.633162;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911122 rs79971593 C T 100 PASS AC=7;AF=0.0782748;AN=214;NS=2504;DP=17042;EAS_AF=0.1508;AMR_AF=0.0548;AFR_AF=0.0356;EUR_AF=0.0368;SAS_AF=0.1207;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79971593;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0411;ExAC_nontcga_AMR=0.0799;ExAC_nontcga_EAS=0.1707;ExAC_nontcga_FIN=0.1010;ExAC_nontcga_NFE=0.0418;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.1111;AF=0.0503;AF_popmax=0.1468;AF_male=0.0502;AF_female=0.0504;AF_raw=0.0503;AF_afr=0.0374;AF_sas=.;AF_amr=0.0542;AF_eas=0.1468;AF_nfe=0.0384;AF_fin=0.0872;AF_asj=0.0517;AF_oth=0.0625;non_topmed_AF_popmax=0.1465;non_neuro_AF_popmax=0.1468;non_cancer_AF_popmax=.;controls_AF_popmax=0.1332;Kaviar_AF=0.0524767;Kaviar_AC=8113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527607;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911137 rs10925211 A G 100 PASS AC=19;AF=0.10623;AN=214;NS=2504;DP=17264;EAS_AF=0.1091;AMR_AF=0.1816;AFR_AF=0.0749;EUR_AF=0.0586;SAS_AF=0.1411;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925211;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0759;AF_popmax=0.1478;AF_male=0.0795;AF_female=0.0715;AF_raw=0.0760;AF_afr=0.0851;AF_sas=.;AF_amr=0.1478;AF_eas=0.1478;AF_nfe=0.0648;AF_fin=0.0472;AF_asj=0.1;AF_oth=0.0869;non_topmed_AF_popmax=0.1489;non_neuro_AF_popmax=0.1478;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0167398;Kaviar_AC=2588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.490998;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236912597 rs2297955 A G 100 PASS AC=25;AF=0.189896;AN=214;NS=2504;DP=19253;EAS_AF=0.2351;AMR_AF=0.2133;AFR_AF=0.2383;EUR_AF=0.0835;SAS_AF=0.1708;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189896;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297955;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1073;ExAC_nontcga_ALL=0.1437;ExAC_nontcga_AFR=0.2329;ExAC_nontcga_AMR=0.2112;ExAC_nontcga_EAS=0.2343;ExAC_nontcga_FIN=0.0877;ExAC_nontcga_NFE=0.1043;ExAC_nontcga_OTH=0.1517;ExAC_nontcga_SAS=0.1577;AF=0.1435;AF_popmax=0.2384;AF_male=0.1506;AF_female=0.1345;AF_raw=0.1438;AF_afr=0.2384;AF_sas=.;AF_amr=0.1714;AF_eas=0.2342;AF_nfe=0.0945;AF_fin=0.0837;AF_asj=0.1448;AF_oth=0.1186;non_topmed_AF_popmax=0.2382;non_neuro_AF_popmax=0.2407;non_cancer_AF_popmax=.;controls_AF_popmax=0.2456;Kaviar_AF=0.137657;Kaviar_AC=21282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236912622 rs553196107 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553196107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 236914738 rs140875513 ATTGT A 100 PASS AC=6;AF=0.0145767;AN=214;NS=2504;DP=20365;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0106;EUR_AF=0.0249;SAS_AF=0.0215;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140875513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0320;ExAC_nontcga_ALL=0.0258;ExAC_nontcga_AFR=0.0148;ExAC_nontcga_AMR=0.0149;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0386;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0453;ExAC_nontcga_SAS=0.0229;AF=0.0249;AF_popmax=0.0295;AF_male=0.0251;AF_female=0.0246;AF_raw=0.0251;AF_afr=0.0161;AF_sas=.;AF_amr=0.0177;AF_eas=0.0006;AF_nfe=0.0295;AF_fin=0.0374;AF_asj=0.0448;AF_oth=0.0239;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0294;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.696720,99.003311;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236914754 rs148194175 T C 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=19762;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148194175;CLNALLELEID=198056;CLNDN=Dilated_cardiomyopathy_1AA|not_specified;CLNDISDB=MedGen:C2677338,OMIM:612158|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0008;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.462539;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236914923 rs35997569 A G 100 PASS AC=1;AF=0.0195687;AN=214;NS=2504;DP=18247;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0681;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon15:c.A1810G:p.M604V,ACTN2:NM_001278343:exon15:c.A1810G:p.M604V,ACTN2:NM_001278344:exon17:c.A1186G:p.M396V;1000g2015aug_all=0.0195687;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35997569;CLNALLELEID=53084;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.526;SIFT_converted_rankscore=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.883;LRT_converted_rankscore=0.072;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.249;MutationTaster_pred=N;MutationAssessor_score=-0.695;MutationAssessor_score_rankscore=0.019;MutationAssessor_pred=N;FATHMM_score=0.8;FATHMM_converted_rankscore=0.488;FATHMM_pred=T;PROVEAN_score=-0.06;PROVEAN_converted_rankscore=0.079;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.059;MetaSVM_score=-1.040;MetaSVM_rankscore=0.174;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.023;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.771;CADD_raw_rankscore=0.167;CADD_phred=9.286;DANN_score=0.787;DANN_rankscore=0.120;fathmm-MKL_coding_score=0.184;fathmm-MKL_coding_rankscore=0.200;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.838;Eigen-PC-raw=-0.681;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.52;GERP++_RS_rankscore=0.294;phyloP100way_vertebrate=-0.035;phyloP100way_vertebrate_rankscore=0.121;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=4.606;SiPhy_29way_logOdds_rankscore=0.117;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0612;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0165;AF_popmax=0.0583;AF_male=0.0161;AF_female=0.0169;AF_raw=0.0165;AF_afr=0.0583;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0582;non_neuro_AF_popmax=0.0585;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0057244;Kaviar_AC=885;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909309;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236920782 rs201576900 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21072;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201576900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.8759;dbscSNV_RF_SCORE=0.846;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.564547;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236920960 rs114906297 A G 100 PASS AC=1;AF=0.0215655;AN=214;NS=2504;DP=22566;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0764;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114906297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0701;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.098e-05;AF=0.0187;AF_popmax=0.0659;AF_male=0.0187;AF_female=0.0186;AF_raw=0.0187;AF_afr=0.0659;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0661;non_neuro_AF_popmax=0.0659;non_cancer_AF_popmax=.;controls_AF_popmax=0.0638;Kaviar_AF=0.0064682;Kaviar_AC=1000;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.702438;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236923197 rs12730862 C T 100 PASS AC=25;AF=0.0664936;AN=214;NS=2504;DP=19781;EAS_AF=0.001;AMR_AF=0.0677;AFR_AF=0.143;EUR_AF=0.0676;SAS_AF=0.0286;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0664936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12730862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0738;AF_popmax=0.1337;AF_male=0.0773;AF_female=0.0695;AF_raw=0.0739;AF_afr=0.1337;AF_sas=.;AF_amr=0.0531;AF_eas=0.0006;AF_nfe=0.0629;AF_fin=0.0132;AF_asj=0.1241;AF_oth=0.0516;non_topmed_AF_popmax=0.1339;non_neuro_AF_popmax=0.1317;non_cancer_AF_popmax=.;controls_AF_popmax=0.1380;Kaviar_AF=0.01293;Kaviar_AC=1999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.679730;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236924506 rs2282366 A G 100 PASS AC=188;AF=0.798123;AN=214;NS=2504;DP=20960;EAS_AF=0.7421;AMR_AF=0.8674;AFR_AF=0.7852;EUR_AF=0.8877;SAS_AF=0.7321;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.798123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2282366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8909;ExAC_nontcga_ALL=0.8467;ExAC_nontcga_AFR=0.8014;ExAC_nontcga_AMR=0.8857;ExAC_nontcga_EAS=0.7176;ExAC_nontcga_FIN=0.8569;ExAC_nontcga_NFE=0.8871;ExAC_nontcga_OTH=0.8487;ExAC_nontcga_SAS=0.7684;AF=0.8572;AF_popmax=0.8953;AF_male=0.8564;AF_female=0.8583;AF_raw=0.8571;AF_afr=0.8074;AF_sas=.;AF_amr=0.8715;AF_eas=0.7522;AF_nfe=0.8953;AF_fin=0.8631;AF_asj=0.8172;AF_oth=0.8462;non_topmed_AF_popmax=0.8955;non_neuro_AF_popmax=0.8954;non_cancer_AF_popmax=.;controls_AF_popmax=0.8928;Kaviar_AF=0.843572;Kaviar_AC=130418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.962402;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 +1 236925844 rs12063382 G A 100 PASS AC=32;AF=0.196086;AN=214;NS=2504;DP=16949;EAS_AF=0.2183;AMR_AF=0.1729;AFR_AF=0.2057;EUR_AF=0.171;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;1000g2015aug_all=0.196086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12063382;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1392;ExAC_nontcga_ALL=0.1715;ExAC_nontcga_AFR=0.1944;ExAC_nontcga_AMR=0.2034;ExAC_nontcga_EAS=0.1908;ExAC_nontcga_FIN=0.2220;ExAC_nontcga_NFE=0.1441;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.1992;AF=0.1665;AF_popmax=0.2012;AF_male=0.1671;AF_female=0.1659;AF_raw=0.1667;AF_afr=0.1824;AF_sas=.;AF_amr=0.1804;AF_eas=0.2012;AF_nfe=0.1434;AF_fin=0.2205;AF_asj=0.0556;AF_oth=0.1636;non_topmed_AF_popmax=0.2003;non_neuro_AF_popmax=0.2012;non_cancer_AF_popmax=.;controls_AF_popmax=0.1972;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939231|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.699444;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 +1 237205759 rs578020342 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=RYR2;GeneDetail.refGene=NM_001035:c.-63G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs578020342;CLNALLELEID=280279;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.442588;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237205892 rs376110883 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=9205;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376110883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0112;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=0.0013;AF_popmax=0.0024;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0014;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.662651;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237519165 rs10925382 G T 100 PASS AC=53;AF=0.186901;AN=214;NS=2504;DP=18255;EAS_AF=0.372;AMR_AF=0.2133;AFR_AF=0.1074;EUR_AF=0.2018;SAS_AF=0.0695;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2001;AF_popmax=0.3731;AF_male=0.1959;AF_female=0.2055;AF_raw=0.2001;AF_afr=0.1191;AF_sas=.;AF_amr=0.2087;AF_eas=0.3731;AF_nfe=0.2223;AF_fin=0.2272;AF_asj=0.1319;AF_oth=0.2132;non_topmed_AF_popmax=0.3719;non_neuro_AF_popmax=0.3731;non_cancer_AF_popmax=.;controls_AF_popmax=0.3758;Kaviar_AF=0.0393527;Kaviar_AC=6084;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.947334;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 +1 237527551 rs114016617 A G 100 PASS AC=8;AF=0.0103834;AN=214;NS=2504;DP=14843;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0276;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114016617;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0114;AF_popmax=0.0183;AF_male=0.0115;AF_female=0.0114;AF_raw=0.0115;AF_afr=0.0028;AF_sas=.;AF_amr=0.0120;AF_eas=0;AF_nfe=0.0183;AF_fin=0.0075;AF_asj=0.0243;AF_oth=0.0083;non_topmed_AF_popmax=0.0180;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.00326;Kaviar_AC=504;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.889333;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237532763 rs17681893 T G 100 PASS AC=3;AF=0.0189696;AN=214;NS=2504;DP=19125;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0151;EUR_AF=0.0477;SAS_AF=0.0143;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17681893;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0353;AF_popmax=0.0414;AF_male=0.0349;AF_female=0.0358;AF_raw=0.0353;AF_afr=0.0171;AF_sas=.;AF_amr=0.0224;AF_eas=0.0006;AF_nfe=0.0414;AF_fin=0.0671;AF_asj=0.0448;AF_oth=0.0487;non_topmed_AF_popmax=0.0425;non_neuro_AF_popmax=0.0413;non_cancer_AF_popmax=.;controls_AF_popmax=0.0406;Kaviar_AF=0.0057955;Kaviar_AC=896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237532860 rs536426427 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18612;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon6:c.A336G:p.T112T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536426427;CLNALLELEID=238234;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0026;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910213;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 237532996 rs534251203 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19834;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534251203;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.371e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.744476;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 237540615 rs10925391 A C 100 PASS AC=55;AF=0.362819;AN=214;NS=2504;DP=17859;EAS_AF=0.4315;AMR_AF=0.3429;AFR_AF=0.5484;EUR_AF=0.2366;SAS_AF=0.1851;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.362819;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925391;CLNALLELEID=52959;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.2293;ExAC_nontcga_ALL=0.3060;ExAC_nontcga_AFR=0.5111;ExAC_nontcga_AMR=0.3819;ExAC_nontcga_EAS=0.4512;ExAC_nontcga_FIN=0.3758;ExAC_nontcga_NFE=0.2500;ExAC_nontcga_OTH=0.3248;ExAC_nontcga_SAS=0.2280;AF=0.3453;AF_popmax=0.5062;AF_male=0.3426;AF_female=0.3486;AF_raw=0.3454;AF_afr=0.5062;AF_sas=.;AF_amr=0.3050;AF_eas=0.4300;AF_nfe=0.2506;AF_fin=0.3566;AF_asj=0.1931;AF_oth=0.3149;non_topmed_AF_popmax=0.5050;non_neuro_AF_popmax=0.5146;non_cancer_AF_popmax=.;controls_AF_popmax=0.5090;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.244447;ALLELE_END GT 0|1 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 +1 237551298 rs546595506 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546595506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.869764;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237551376 rs10754602 T A 100 PASS AC=120;AF=0.55651;AN=214;NS=2504;DP=19909;EAS_AF=0.6458;AMR_AF=0.7421;AFR_AF=0.4697;EUR_AF=0.5716;SAS_AF=0.4346;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.55651;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10754602;CLNALLELEID=52986;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.5597;ExAC_nontcga_ALL=0.5759;ExAC_nontcga_AFR=0.4627;ExAC_nontcga_AMR=0.7863;ExAC_nontcga_EAS=0.6438;ExAC_nontcga_FIN=0.5519;ExAC_nontcga_NFE=0.5723;ExAC_nontcga_OTH=0.5542;ExAC_nontcga_SAS=0.4784;AF=0.5328;AF_popmax=0.7464;AF_male=0.5298;AF_female=0.5366;AF_raw=0.5327;AF_afr=0.4652;AF_sas=.;AF_amr=0.7464;AF_eas=0.6116;AF_nfe=0.5469;AF_fin=0.5446;AF_asj=0.5104;AF_oth=0.5646;non_topmed_AF_popmax=0.7457;non_neuro_AF_popmax=0.7273;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.558725;Kaviar_AC=86380;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.787306;ALLELE_END GT 1|0 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 0|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 0|1 0|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 1|1 1|1 0|0 1|1 1|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|0 0|1 1|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 +1 237586384 rs16835237 T C 100 PASS AC=24;AF=0.170128;AN=214;NS=2504;DP=18509;EAS_AF=0.3135;AMR_AF=0.2666;AFR_AF=0.0635;EUR_AF=0.0964;SAS_AF=0.1738;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835237;CLNALLELEID=53003;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0985;ExAC_nontcga_ALL=0.1448;ExAC_nontcga_AFR=0.0684;ExAC_nontcga_AMR=0.3255;ExAC_nontcga_EAS=0.2693;ExAC_nontcga_FIN=0.0942;ExAC_nontcga_NFE=0.1022;ExAC_nontcga_OTH=0.1366;ExAC_nontcga_SAS=0.1630;AF=0.0976;AF_popmax=0.2950;AF_male=0.1002;AF_female=0.0944;AF_raw=0.0976;AF_afr=0.0658;AF_sas=.;AF_amr=0.2606;AF_eas=0.2950;AF_nfe=0.0876;AF_fin=0.0881;AF_asj=0.0793;AF_oth=0.1204;non_topmed_AF_popmax=0.2931;non_neuro_AF_popmax=0.2950;non_cancer_AF_popmax=.;controls_AF_popmax=0.3114;Kaviar_AF=0.13527;Kaviar_AC=20913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.727925;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237586449 rs569242793 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18348;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon12:c.A906T:p.T302T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569242793;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.890199;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 237608663 rs181315408 A G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18328;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181315408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.486e-05;AF_male=0;AF_female=7.186e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237608842 rs182050281 C T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=17805;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182050281;CLNALLELEID=142641;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0253;AF=0.0045;AF_popmax=0.0075;AF_male=0.0042;AF_female=0.0050;AF_raw=0.0045;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0074;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0078718;Kaviar_AC=1217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.417798;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237617757 rs3765097 C T 100 PASS AC=125;AF=0.535743;AN=214;NS=2504;DP=17132;EAS_AF=0.7391;AMR_AF=0.5447;AFR_AF=0.2769;EUR_AF=0.5994;SAS_AF=0.6043;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;1000g2015aug_all=0.535743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3765097;CLNALLELEID=52897;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6005;ExAC_nontcga_ALL=0.5760;ExAC_nontcga_AFR=0.3027;ExAC_nontcga_AMR=0.6021;ExAC_nontcga_EAS=0.7342;ExAC_nontcga_FIN=0.5985;ExAC_nontcga_NFE=0.5917;ExAC_nontcga_OTH=0.5828;ExAC_nontcga_SAS=0.5627;AF=0.5239;AF_popmax=0.7094;AF_male=0.5206;AF_female=0.5280;AF_raw=0.5237;AF_afr=0.3179;AF_sas=.;AF_amr=0.5853;AF_eas=0.7094;AF_nfe=0.5983;AF_fin=0.5907;AF_asj=0.6042;AF_oth=0.5699;non_topmed_AF_popmax=0.7107;non_neuro_AF_popmax=0.7094;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.695180;ALLELE_END GT 0|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 0|1 1|1 0|0 +1 237619875 rs538388690;rs538388690;rs575563420;rs546922577;rs567712702 ATT ATTT,ATTTT,AT,A 100 PASS AC=91,1,50,1;AF=0.417332,0.0239617,0.257588,0.0127796;AN=214;NS=2504;DP=19875;EAS_AF=0.5069,0.0675,0.2103,0.003;AMR_AF=0.415,0.0043,0.3084,0.0101;AFR_AF=0.3381,0.0174,0.3162,0.028;EUR_AF=0.4433,0.002,0.2376,0.004;SAS_AF=0.407,0.0245,0.2117,0.0133;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567712702;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0203;ExAC_nontcga_AFR=0.0273;ExAC_nontcga_AMR=0.0295;ExAC_nontcga_EAS=0.0132;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0166;ExAC_nontcga_OTH=0.0211;ExAC_nontcga_SAS=0.0317;AF=0.0012;AF_popmax=0.0058;AF_male=0.0016;AF_female=0.0006;AF_raw=0.0028;AF_afr=0.0005;AF_sas=.;AF_amr=0.0058;AF_eas=0.0007;AF_nfe=0.0006;AF_fin=0.0055;AF_asj=0.0037;AF_oth=0.0011;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0063;Kaviar_AF=0.000414;Kaviar_AC=64;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END GT 3|1 3|0 0|3 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|3 0|3 1|1 0|1 1|3 0|1 0|0 3|3 3|1 0|0 1|0 0|1 1|1 0|3 3|1 0|3 1|0 3|3 0|1 0|1 0|1 3|1 0|0 0|1 0|1 0|3 1|0 3|3 1|1 1|1 0|1 1|3 3|3 1|2 0|3 3|1 3|1 0|1 3|3 0|1 1|3 3|1 0|1 1|0 1|0 0|3 1|0 1|0 1|3 1|0 0|1 0|1 0|1 0|1 1|3 1|3 3|0 0|1 1|0 3|1 1|3 0|3 1|0 1|0 1|0 0|3 1|1 0|3 0|1 0|1 1|0 3|0 1|0 1|0 3|4 1|3 0|1 3|1 1|3 1|0 0|1 0|3 0|1 1|0 0|1 3|1 3|1 0|1 1|0 1|3 3|1 0|1 0|1 0|1 3|1 1|0 0|3 +1 237619971 rs146129084 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon16:c.T1548C:p.D516D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146129084;CLNALLELEID=52920;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.973e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.104e-05;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.524418;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237620049 rs2045955 T C 100 PASS AC=118;AF=0.53115;AN=214;NS=2504;DP=18474;EAS_AF=0.7788;AMR_AF=0.5245;AFR_AF=0.2716;EUR_AF=0.5596;SAS_AF=0.6022;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.53115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2045955;CLNALLELEID=52921;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5441;ExAC_nontcga_ALL=0.5534;ExAC_nontcga_AFR=0.2906;ExAC_nontcga_AMR=0.5912;ExAC_nontcga_EAS=0.7975;ExAC_nontcga_FIN=0.5796;ExAC_nontcga_NFE=0.5456;ExAC_nontcga_OTH=0.5569;ExAC_nontcga_SAS=0.5619;AF=0.4982;AF_popmax=0.7841;AF_male=0.4972;AF_female=0.4995;AF_raw=0.4975;AF_afr=0.3098;AF_sas=.;AF_amr=0.5628;AF_eas=0.7841;AF_nfe=0.5515;AF_fin=0.5666;AF_asj=0.5729;AF_oth=0.5552;non_topmed_AF_popmax=0.7860;non_neuro_AF_popmax=0.7841;non_cancer_AF_popmax=.;controls_AF_popmax=0.7840;Kaviar_AF=0.542658;Kaviar_AC=83896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072911;ALLELE_END GT 0|1 0|0 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 +1 237620108 rs527873096 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17710;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527873096;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237632512 rs116528666 T C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=13326;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116528666;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0081;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=6.4e-05;AF=0.0052;AF_popmax=0.0079;AF_male=0.0054;AF_female=0.0051;AF_raw=0.0053;AF_afr=0.0021;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0031;AF_asj=0.0069;AF_oth=0.0075;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0077;non_cancer_AF_popmax=.;controls_AF_popmax=0.0050;Kaviar_AF=0.0050581;Kaviar_AC=782;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237632514 rs571478539 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571478539;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655057 rs146351607 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17515;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146351607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0014;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.435834;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655173 rs72549414 A T 100 PASS AC=8;AF=0.0215655;AN=214;NS=2504;DP=16301;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0454;EUR_AF=0.0258;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon18:c.A1776T:p.G592G;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549414;CLNALLELEID=52922;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0180;ExAC_nontcga_ALL=0.0279;ExAC_nontcga_AFR=0.0629;ExAC_nontcga_AMR=0.0367;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0450;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0080;AF=0.0273;AF_popmax=0.0407;AF_male=0.0270;AF_female=0.0277;AF_raw=0.0274;AF_afr=0.0407;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0228;AF_fin=0.0288;AF_asj=0.0034;AF_oth=0.0257;non_topmed_AF_popmax=0.0405;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0401;Kaviar_AF=0.0136544;Kaviar_AC=2111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835212;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655267 rs188369875 T C 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=16724;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188369875;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0178;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0016;AF=0.0093;AF_popmax=0.0129;AF_male=0.0100;AF_female=0.0085;AF_raw=0.0093;AF_afr=0.0029;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0129;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.462747;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237656185 rs185840210 A G 100 PASS AC=80;AF=0.396565;AN=214;NS=2504;DP=7268;EAS_AF=0.3343;AMR_AF=0.3329;AFR_AF=0.5189;EUR_AF=0.333;SAS_AF=0.4059;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.396565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185840210;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0016;AF_male=0.0006;AF_female=0.0004;AF_raw=0.0024;AF_afr=0.0015;AF_sas=.;AF_amr=0.0016;AF_eas=0;AF_nfe=9.889e-05;AF_fin=0.0003;AF_asj=0.0059;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 +1 237656289 rs17686573 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon19:c.C1863T:p.H621H;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17686573;CLNALLELEID=45398;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0013;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0023;AF=0.0034;AF_popmax=0.0059;AF_male=0.0033;AF_female=0.0037;AF_raw=0.0034;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0048124;Kaviar_AC=744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.931995;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 237664004 rs147479514 C G 100 PASS AC=5;AF=0.00459265;AN=214;NS=2504;DP=19198;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147479514;CLNALLELEID=45399;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0039;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0101;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0289;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0067;AF=0.0126;AF_popmax=0.0180;AF_male=0.0114;AF_female=0.0141;AF_raw=0.0126;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0273;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0186;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0090555;Kaviar_AC=1400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.334388;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237670140 rs2618702 A G 100 PASS AC=143;AF=0.699481;AN=214;NS=2504;DP=17642;EAS_AF=0.7272;AMR_AF=0.6182;AFR_AF=0.8563;EUR_AF=0.6779;SAS_AF=0.5389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.699481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2618702;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6578;ExAC_nontcga_ALL=0.6782;ExAC_nontcga_AFR=0.8383;ExAC_nontcga_AMR=0.6525;ExAC_nontcga_EAS=0.7152;ExAC_nontcga_FIN=0.7363;ExAC_nontcga_NFE=0.6666;ExAC_nontcga_OTH=0.6897;ExAC_nontcga_SAS=0.6051;AF=0.7216;AF_popmax=0.8341;AF_male=0.7193;AF_female=0.7245;AF_raw=0.7217;AF_afr=0.8341;AF_sas=.;AF_amr=0.6064;AF_eas=0.7202;AF_nfe=0.6675;AF_fin=0.7343;AF_asj=0.5621;AF_oth=0.6808;non_topmed_AF_popmax=0.8342;non_neuro_AF_popmax=0.8422;non_cancer_AF_popmax=.;controls_AF_popmax=0.8459;Kaviar_AF=0.653497;Kaviar_AC=101032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939271|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757939;ALLELE_END GT 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 1|0 1|1 0|0 1|1 0|1 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|0 0|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|0 1|0 0|1 1|0 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 +1 237670190 rs546767501 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19092;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546767501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939271|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.734137;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 237675150 rs57409517 A AG 100 PASS AC=55;AF=0.343251;AN=214;NS=2504;DP=18112;EAS_AF=0.2738;AMR_AF=0.1931;AFR_AF=0.6067;EUR_AF=0.2306;SAS_AF=0.2812;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.343251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57409517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2181;AF_popmax=0.3940;AF_male=0.2217;AF_female=0.2136;AF_raw=0.2133;AF_afr=0.3940;AF_sas=.;AF_amr=0.1244;AF_eas=0.1299;AF_nfe=0.1630;AF_fin=0.0938;AF_asj=0.1679;AF_oth=0.1632;non_topmed_AF_popmax=0.3932;non_neuro_AF_popmax=0.3949;non_cancer_AF_popmax=.;controls_AF_popmax=0.3958;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 +1 237675152 rs537115725 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18080;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537115725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0054;AF_raw=0.0053;AF_afr=0.0011;AF_sas=.;AF_amr=0.0025;AF_eas=0.0006;AF_nfe=0.0080;AF_fin=0.0054;AF_asj=0;AF_oth=0.0049;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0078;non_cancer_AF_popmax=.;controls_AF_popmax=0.0086;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237675163 rs67622164 G A 100 PASS AC=81;AF=0.295327;AN=214;NS=2504;DP=15444;EAS_AF=0.4901;AMR_AF=0.3386;AFR_AF=0.0325;EUR_AF=0.4324;SAS_AF=0.2781;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.295327;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67622164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3311;AF_popmax=0.5066;AF_male=0.3264;AF_female=0.3372;AF_raw=0.3286;AF_afr=0.0759;AF_sas=.;AF_amr=0.3668;AF_eas=0.5066;AF_nfe=0.4259;AF_fin=0.4880;AF_asj=0.3392;AF_oth=0.3926;non_topmed_AF_popmax=0.5067;non_neuro_AF_popmax=0.5066;non_cancer_AF_popmax=.;controls_AF_popmax=0.5168;Kaviar_AF=0.3502;Kaviar_AC=9115;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 1|1 0|1 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|1 +1 237693662 rs114356013 C T 100 PASS AC=3;AF=0.0323482;AN=214;NS=2504;DP=17382;EAS_AF=0.0556;AMR_AF=0.0533;AFR_AF=0.0386;EUR_AF=0.0099;SAS_AF=0.0082;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114356013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0236;AF_popmax=0.0492;AF_male=0.0246;AF_female=0.0222;AF_raw=0.0235;AF_afr=0.0492;AF_sas=.;AF_amr=0.0308;AF_eas=0.0360;AF_nfe=0.0096;AF_fin=0.0159;AF_asj=0.0069;AF_oth=0.0222;non_topmed_AF_popmax=0.0492;non_neuro_AF_popmax=0.0464;non_cancer_AF_popmax=.;controls_AF_popmax=0.0440;Kaviar_AF=0.0004995;Kaviar_AC=13;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237711797 rs2253273 A G 100 PASS AC=201;AF=0.830272;AN=214;NS=2504;DP=19444;EAS_AF=0.872;AMR_AF=0.951;AFR_AF=0.5378;EUR_AF=0.9583;SAS_AF=0.9652;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;1000g2015aug_all=0.830272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253273;CLNALLELEID=52932;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9585;ExAC_nontcga_ALL=0.9262;ExAC_nontcga_AFR=0.5982;ExAC_nontcga_AMR=0.9583;ExAC_nontcga_EAS=0.8824;ExAC_nontcga_FIN=0.9710;ExAC_nontcga_NFE=0.9592;ExAC_nontcga_OTH=0.9477;ExAC_nontcga_SAS=0.9662;AF=0.8538;AF_popmax=0.9564;AF_male=0.8480;AF_female=0.8610;AF_raw=0.8535;AF_afr=0.5950;AF_sas=.;AF_amr=0.9409;AF_eas=0.8817;AF_nfe=0.9564;AF_fin=0.9770;AF_asj=0.9621;AF_oth=0.9357;non_topmed_AF_popmax=0.9592;non_neuro_AF_popmax=0.9557;non_cancer_AF_popmax=.;controls_AF_popmax=0.9602;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.734657;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237730059 rs72549415 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18874;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon28:c.C3407T:p.A1136V;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549415;CLNALLELEID=52939;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.771;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.388;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_converted_rankscore=0.401;MutationTaster_pred=D;MutationAssessor_score=-0.29;MutationAssessor_score_rankscore=0.037;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=1.28;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.078;VEST3_rankscore=0.069;MetaSVM_score=-0.963;MetaSVM_rankscore=0.386;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.309;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.658;CADD_raw_rankscore=0.381;CADD_phred=20.6;DANN_score=0.896;DANN_rankscore=0.183;fathmm-MKL_coding_score=0.723;fathmm-MKL_coding_rankscore=0.351;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.336;Eigen-PC-raw=-0.062;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=4.016;phyloP100way_vertebrate_rankscore=0.566;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=6.897;SiPhy_29way_logOdds_rankscore=0.233;Interpro_domain=B30.2/SPRY_domain|Concanavalin_A-like_lectin/glucanase_domain|SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0112;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0010;AF=0.0086;AF_popmax=0.0143;AF_male=0.0077;AF_female=0.0096;AF_raw=0.0086;AF_afr=0.0023;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0046;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0174;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1710412|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.926699;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237730124 rs2805390 A G 100 PASS AC=205;AF=0.905551;AN=214;NS=2504;DP=20171;EAS_AF=0.999;AMR_AF=0.9697;AFR_AF=0.702;EUR_AF=0.9712;SAS_AF=0.9714;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.905551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805390;CLNALLELEID=249820;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9754;ExAC_nontcga_ALL=0.9576;ExAC_nontcga_AFR=0.7411;ExAC_nontcga_AMR=0.9774;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9782;ExAC_nontcga_NFE=0.9734;ExAC_nontcga_OTH=0.9622;ExAC_nontcga_SAS=0.9747;AF=0.9111;AF_popmax=1;AF_male=0.9088;AF_female=0.9139;AF_raw=0.9109;AF_afr=0.7465;AF_sas=.;AF_amr=0.9658;AF_eas=1;AF_nfe=0.9705;AF_fin=0.9830;AF_asj=0.9828;AF_oth=0.9632;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.932155;Kaviar_AC=144113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1710412|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237732395 rs2805396 G A 100 PASS AC=150;AF=0.492812;AN=214;NS=2504;DP=16891;EAS_AF=0.2619;AMR_AF=0.7176;AFR_AF=0.2443;EUR_AF=0.6978;SAS_AF=0.6963;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.492812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805396;CLNALLELEID=249821;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7105;ExAC_nontcga_ALL=0.6425;ExAC_nontcga_AFR=0.3112;ExAC_nontcga_AMR=0.7441;ExAC_nontcga_EAS=0.2711;ExAC_nontcga_FIN=0.6575;ExAC_nontcga_NFE=0.7160;ExAC_nontcga_OTH=0.6724;ExAC_nontcga_SAS=0.6767;AF=0.5703;AF_popmax=0.7082;AF_male=0.5637;AF_female=0.5787;AF_raw=0.5699;AF_afr=0.3145;AF_sas=.;AF_amr=0.7009;AF_eas=0.2332;AF_nfe=0.7082;AF_fin=0.6713;AF_asj=0.7862;AF_oth=0.6621;non_topmed_AF_popmax=0.7086;non_neuro_AF_popmax=0.7079;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.621635;Kaviar_AC=96106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.925715;ALLELE_END GT 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 1|0 0|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 +1 237732617 rs149760466 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19418;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon29:c.A3596G:p.D1199G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149760466;CLNALLELEID=52942;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.026;SIFT_converted_rankscore=0.469;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.305;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=D;MutationAssessor_score=0.875;MutationAssessor_score_rankscore=0.216;MutationAssessor_pred=L;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.966;FATHMM_pred=T;PROVEAN_score=-4.03;PROVEAN_converted_rankscore=0.743;PROVEAN_pred=D;VEST3_score=0.365;VEST3_rankscore=0.625;MetaSVM_score=-0.882;MetaSVM_rankscore=0.496;MetaSVM_pred=T;MetaLR_score=0.196;MetaLR_rankscore=0.551;MetaLR_pred=T;M-CAP_score=0.073;M-CAP_rankscore=0.718;M-CAP_pred=D;REVEL_score=0.355;REVEL_rankscore=0.680;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.237;CADD_raw_rankscore=0.568;CADD_phred=23.9;DANN_score=0.997;DANN_rankscore=0.771;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.743;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.098;Eigen-PC-raw=0.075;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.409;integrated_fitCons_score=0.578;integrated_fitCons_score_rankscore=0.323;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=6.249;phyloP100way_vertebrate_rankscore=0.722;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.282;phastCons20way_mammalian_rankscore=0.234;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=B30.2/SPRY_domain|Concanavalin_A-like_lectin/glucanase_domain|SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.3523;dbscSNV_RF_SCORE=0.482;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.072e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.081e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.870532;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237732673 rs12740534 C T 100 PASS AC=1;AF=0.0197684;AN=214;NS=2504;DP=18210;EAS_AF=0;AMR_AF=0.0692;AFR_AF=0.0023;EUR_AF=0.0417;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12740534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0358;AF_popmax=0.0638;AF_male=0.0350;AF_female=0.0369;AF_raw=0.0359;AF_afr=0.0098;AF_sas=.;AF_amr=0.0638;AF_eas=0.0006;AF_nfe=0.0506;AF_fin=0.0412;AF_asj=0.0345;AF_oth=0.0470;non_topmed_AF_popmax=0.0668;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0083958;Kaviar_AC=1298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237732684 rs192903568 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18287;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192903568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237753074 rs541735679;rs371111802 AT ATT,A 100 PASS AC=1,90;AF=0.00299521,0.285144;AN=214;NS=2504;DP=19245;EAS_AF=0,0.2659;AMR_AF=0,0.5072;AFR_AF=0.0091,0.0499;EUR_AF=0.001,0.4573;SAS_AF=0.002,0.2883;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.178351;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11331089;CLNALLELEID=45402;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4430;ExAC_nontcga_ALL=0.4632;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.6449;ExAC_nontcga_EAS=0.3432;ExAC_nontcga_FIN=0.5085;ExAC_nontcga_NFE=0.4997;ExAC_nontcga_OTH=0.4965;ExAC_nontcga_SAS=0.3795;AF=0.3543;AF_popmax=0.5408;AF_male=0.3506;AF_female=0.3589;AF_raw=0.3517;AF_afr=0.1239;AF_sas=.;AF_amr=0.5408;AF_eas=0.2526;AF_nfe=0.4491;AF_fin=0.4812;AF_asj=0.4410;AF_oth=0.4263;non_topmed_AF_popmax=0.5465;non_neuro_AF_popmax=0.5221;non_cancer_AF_popmax=.;controls_AF_popmax=0.5294;Kaviar_AF=0.012005;Kaviar_AC=1856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.178351;ALLELE_END GT 0|2 2|0 0|2 2|0 2|2 0|0 2|0 2|0 0|2 2|2 2|0 0|0 0|0 0|0 2|0 0|0 2|2 2|2 0|0 2|0 0|0 2|0 0|2 2|0 0|0 2|0 0|2 2|2 2|0 2|0 0|2 0|2 0|0 2|2 2|2 0|2 0|2 2|0 0|0 2|2 0|0 0|2 0|0 0|0 0|2 2|2 2|0 2|0 0|2 2|0 0|2 2|0 0|0 0|0 0|2 2|0 2|2 0|0 0|2 0|2 0|0 0|0 0|2 0|0 2|2 2|0 2|0 0|0 0|0 2|0 2|1 2|0 0|2 2|0 0|0 0|2 2|2 0|2 0|2 2|2 0|0 0|0 0|2 2|0 0|0 0|0 2|0 2|0 2|2 2|2 2|0 0|2 2|0 0|0 0|2 0|0 0|2 2|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 2|2 2|0 +1 237753364 rs2805409 A C 100 PASS AC=101;AF=0.336861;AN=214;NS=2504;DP=17963;EAS_AF=0.3105;AMR_AF=0.5375;AFR_AF=0.1437;EUR_AF=0.4901;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805409;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4002;AF_popmax=0.5687;AF_male=0.3986;AF_female=0.4023;AF_raw=0.4003;AF_afr=0.1977;AF_sas=.;AF_amr=0.5687;AF_eas=0.2888;AF_nfe=0.4881;AF_fin=0.4977;AF_asj=0.4621;AF_oth=0.4797;non_topmed_AF_popmax=0.5757;non_neuro_AF_popmax=0.5525;non_cancer_AF_popmax=.;controls_AF_popmax=0.5451;Kaviar_AF=0.0869329;Kaviar_AC=13440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237754020 rs373721253 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon31:c.C3888T:p.N1296N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373721253;CLNALLELEID=142646;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0011;AF=0.0004;AF_popmax=0.0009;AF_male=0.0004;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000705;Kaviar_AC=109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898378;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237754340 rs1332777 A G 100 PASS AC=100;AF=0.33746;AN=214;NS=2504;DP=10387;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1332777;CLNALLELEID=249823;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4731;ExAC_nontcga_ALL=0.4477;ExAC_nontcga_AFR=0.1896;ExAC_nontcga_AMR=0.6327;ExAC_nontcga_EAS=0.3245;ExAC_nontcga_FIN=0.5085;ExAC_nontcga_NFE=0.4852;ExAC_nontcga_OTH=0.5229;ExAC_nontcga_SAS=0.3494;AF=0.3968;AF_popmax=0.5657;AF_male=0.3953;AF_female=0.3988;AF_raw=0.3943;AF_afr=0.1944;AF_sas=.;AF_amr=0.5657;AF_eas=0.2853;AF_nfe=0.4849;AF_fin=0.4974;AF_asj=0.4577;AF_oth=0.4791;non_topmed_AF_popmax=0.5725;non_neuro_AF_popmax=0.55;non_cancer_AF_popmax=.;controls_AF_popmax=0.5410;Kaviar_AF=0.407239;Kaviar_AC=62960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237754963 rs112387072 A G 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=21277;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.0082;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112387072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0179;AF_popmax=0.0275;AF_male=0.0173;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0275;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0038033;Kaviar_AC=588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237755076 rs56229512 A G 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=19481;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.0082;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon32:c.A4198G:p.S1400G;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56229512;CLNALLELEID=52951;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_converted_rankscore=0.284;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.046;LRT_converted_rankscore=0.235;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.247;MutationTaster_pred=N;MutationAssessor_score=1.9;MutationAssessor_score_rankscore=0.507;MutationAssessor_pred=L;FATHMM_score=-4.09;FATHMM_converted_rankscore=0.966;FATHMM_pred=D;PROVEAN_score=-1.63;PROVEAN_converted_rankscore=0.391;PROVEAN_pred=N;VEST3_score=0.106;VEST3_rankscore=0.112;MetaSVM_score=-0.170;MetaSVM_rankscore=0.784;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.769;CADD_raw_rankscore=0.274;CADD_phred=14.81;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.624;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.430;Eigen-PC-raw=-0.270;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.078;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=3.543;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.233;phyloP20way_mammalian_rankscore=0.259;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.863;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=9.989;SiPhy_29way_logOdds_rankscore=0.408;Interpro_domain=B30.2/SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0218;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0237;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0175;ExAC_nontcga_SAS=0.0155;AF=0.0179;AF_popmax=0.0275;AF_male=0.0173;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0275;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0174319;Kaviar_AC=2695;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848202;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237755188 rs2618713 C T 100 PASS AC=100;AF=0.335863;AN=214;NS=2504;DP=18584;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.317;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2618713;CLNALLELEID=249824;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4748;ExAC_nontcga_ALL=0.4607;ExAC_nontcga_AFR=0.2106;ExAC_nontcga_AMR=0.6445;ExAC_nontcga_EAS=0.3609;ExAC_nontcga_FIN=0.5288;ExAC_nontcga_NFE=0.5113;ExAC_nontcga_OTH=0.4953;ExAC_nontcga_SAS=0.3592;AF=0.3991;AF_popmax=0.5638;AF_male=0.3980;AF_female=0.4004;AF_raw=0.3990;AF_afr=0.1985;AF_sas=.;AF_amr=0.5638;AF_eas=0.2886;AF_nfe=0.4863;AF_fin=0.4957;AF_asj=0.4586;AF_oth=0.4779;non_topmed_AF_popmax=0.5705;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5287;Kaviar_AF=0.409678;Kaviar_AC=63337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237755203 rs2779430 T C 100 PASS AC=100;AF=0.33746;AN=214;NS=2504;DP=18560;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2779430;CLNALLELEID=249825;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4624;ExAC_nontcga_ALL=0.4294;ExAC_nontcga_AFR=0.1988;ExAC_nontcga_AMR=0.6068;ExAC_nontcga_EAS=0.3303;ExAC_nontcga_FIN=0.5131;ExAC_nontcga_NFE=0.4854;ExAC_nontcga_OTH=0.4822;ExAC_nontcga_SAS=0.3559;AF=0.4009;AF_popmax=0.5684;AF_male=0.3992;AF_female=0.4031;AF_raw=0.4010;AF_afr=0.1994;AF_sas=.;AF_amr=0.5684;AF_eas=0.2879;AF_nfe=0.4886;AF_fin=0.4971;AF_asj=0.4621;AF_oth=0.4816;non_topmed_AF_popmax=0.5753;non_neuro_AF_popmax=0.5505;non_cancer_AF_popmax=.;controls_AF_popmax=0.5406;Kaviar_AF=0.401948;Kaviar_AC=62142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237759023 rs547986065 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20563;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547986065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.913877;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237765458 rs538090636 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538090636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237765470 rs791541 A T 100 PASS AC=96;AF=0.293131;AN=214;NS=2504;DP=15916;EAS_AF=0.2659;AMR_AF=0.5245;AFR_AF=0.0507;EUR_AF=0.4771;SAS_AF=0.2955;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.293131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs791541;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4598;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3673;AF_popmax=0.5486;AF_male=0.3630;AF_female=0.3727;AF_raw=0.3673;AF_afr=0.1255;AF_sas=.;AF_amr=0.5486;AF_eas=0.2477;AF_nfe=0.4713;AF_fin=0.4882;AF_asj=0.4483;AF_oth=0.4513;non_topmed_AF_popmax=0.5534;non_neuro_AF_popmax=0.5327;non_cancer_AF_popmax=.;controls_AF_popmax=0.5203;Kaviar_AF=0.0832589;Kaviar_AC=12872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237774017 rs139669911 A G 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=18675;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139669911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0078;ExAC_nontcga_SAS=0.0052;AF=0.0038;AF_popmax=0.0059;AF_male=0.0038;AF_female=0.0037;AF_raw=0.0038;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0020;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.185930;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237778082 rs41315858 G A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=19171;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0368;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5654A:p.G1885E;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315858;CLNALLELEID=45407;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.886;SIFT_converted_rankscore=0.025;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.755;LRT_converted_rankscore=0.097;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.228;MutationTaster_pred=N;MutationAssessor_score=0.605;MutationAssessor_score_rankscore=0.157;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=0.55;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.092;MetaSVM_score=-0.943;MetaSVM_rankscore=0.421;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.105;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.771;CADD_raw_rankscore=0.011;CADD_phred=0.002;DANN_score=0.496;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_rankscore=0.088;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.479;Eigen-PC-raw=-1.448;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=-2.35;GERP++_RS_rankscore=0.063;phyloP100way_vertebrate=0.388;phyloP100way_vertebrate_rankscore=0.203;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.048;phastCons100way_vertebrate_rankscore=0.211;phastCons20way_mammalian=0.565;phastCons20way_mammalian_rankscore=0.282;SiPhy_29way_logOdds=2.768;SiPhy_29way_logOdds_rankscore=0.050;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0234;ExAC_nontcga_ALL=0.0143;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0127;ExAC_nontcga_NFE=0.0232;ExAC_nontcga_OTH=0.0166;ExAC_nontcga_SAS=0.0019;AF=0.0177;AF_popmax=0.0282;AF_male=0.0162;AF_female=0.0195;AF_raw=0.0177;AF_afr=0.0039;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0158;AF_asj=0.0034;AF_oth=0.0175;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0288;non_cancer_AF_popmax=.;controls_AF_popmax=0.0241;Kaviar_AF=0.0164163;Kaviar_AC=2538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715638;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237778084 rs3766871 G A 100 PASS AC=7;AF=0.076278;AN=214;NS=2504;DP=19105;EAS_AF=0.0635;AMR_AF=0.0303;AFR_AF=0.1551;EUR_AF=0.0268;SAS_AF=0.0665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5656A:p.G1886S;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3766871;CLNALLELEID=45408;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.335;SIFT_converted_rankscore=0.129;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.202;LRT_converted_rankscore=0.166;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-1.096;MetaSVM_rankscore=0.046;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.814;CADD_raw_rankscore=0.172;CADD_phred=9.551;DANN_score=0.953;DANN_rankscore=0.261;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.628;Eigen-PC-raw=-0.532;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=4.8;GERP++_RS_rankscore=0.610;phyloP100way_vertebrate=3.448;phyloP100way_vertebrate_rankscore=0.525;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.325;phastCons100way_vertebrate_rankscore=0.253;phastCons20way_mammalian=0.422;phastCons20way_mammalian_rankscore=0.258;SiPhy_29way_logOdds=18.064;SiPhy_29way_logOdds_rankscore=0.893;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0311;ExAC_nontcga_ALL=0.0443;ExAC_nontcga_AFR=0.1420;ExAC_nontcga_AMR=0.0175;ExAC_nontcga_EAS=0.0803;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0308;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0492;AF=0.0611;AF_popmax=0.1413;AF_male=0.0606;AF_female=0.0617;AF_raw=0.0611;AF_afr=0.1413;AF_sas=.;AF_amr=0.0307;AF_eas=0.0847;AF_nfe=0.0262;AF_fin=0.0265;AF_asj=0.0138;AF_oth=0.0276;non_topmed_AF_popmax=0.1413;non_neuro_AF_popmax=0.1384;non_cancer_AF_popmax=.;controls_AF_popmax=0.1420;Kaviar_AF=0.0419917;Kaviar_AC=6492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715638;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237780803 rs551201970 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20992;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551201970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.798190;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237794913 rs556269614 A ATT 100 PASS AC=77;AF=0.553315;AN=214;NS=2504;DP=13670;EAS_AF=0.4742;AMR_AF=0.5058;AFR_AF=0.8949;EUR_AF=0.3767;SAS_AF=0.3885;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556269614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.106462;Kaviar_AC=2771;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 0|1 1|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 +1 237796837 rs10802626 G A 100 PASS AC=64;AF=0.428514;AN=214;NS=2504;DP=19391;EAS_AF=0.4782;AMR_AF=0.3818;AFR_AF=0.531;EUR_AF=0.3221;SAS_AF=0.3814;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10802626;CLNALLELEID=249826;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3323;ExAC_nontcga_ALL=0.3645;ExAC_nontcga_AFR=0.5155;ExAC_nontcga_AMR=0.3942;ExAC_nontcga_EAS=0.4695;ExAC_nontcga_FIN=0.3518;ExAC_nontcga_NFE=0.3283;ExAC_nontcga_OTH=0.3406;ExAC_nontcga_SAS=0.3415;AF=0.4000;AF_popmax=0.5088;AF_male=0.3989;AF_female=0.4013;AF_raw=0.3998;AF_afr=0.5088;AF_sas=.;AF_amr=0.4019;AF_eas=0.4666;AF_nfe=0.3475;AF_fin=0.3681;AF_asj=0.1736;AF_oth=0.3382;non_topmed_AF_popmax=0.5099;non_neuro_AF_popmax=0.4997;non_cancer_AF_popmax=.;controls_AF_popmax=0.4981;Kaviar_AF=0.0018887;Kaviar_AC=292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.575087;ALLELE_END GT 1|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +1 237796850 rs12563366 A G 100 PASS AC=7;AF=0.155152;AN=214;NS=2504;DP=19561;EAS_AF=0.3313;AMR_AF=0.1671;AFR_AF=0.1657;EUR_AF=0.0517;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12563366;CLNALLELEID=249827;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0561;ExAC_nontcga_ALL=0.1112;ExAC_nontcga_AFR=0.1530;ExAC_nontcga_AMR=0.2361;ExAC_nontcga_EAS=0.3352;ExAC_nontcga_FIN=0.1067;ExAC_nontcga_NFE=0.0626;ExAC_nontcga_OTH=0.0942;ExAC_nontcga_SAS=0.0602;AF=0.1078;AF_popmax=0.3216;AF_male=0.1091;AF_female=0.1061;AF_raw=0.1080;AF_afr=0.1528;AF_sas=.;AF_amr=0.1792;AF_eas=0.3216;AF_nfe=0.0596;AF_fin=0.1070;AF_asj=0.0759;AF_oth=0.0800;non_topmed_AF_popmax=0.3237;non_neuro_AF_popmax=0.3216;non_cancer_AF_popmax=.;controls_AF_popmax=0.3315;Kaviar_AF=0.0018887;Kaviar_AC=292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.279769;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237797082 rs1967579 T G 100 PASS AC=64;AF=0.440695;AN=214;NS=2504;DP=18528;EAS_AF=0.4792;AMR_AF=0.3862;AFR_AF=0.5734;EUR_AF=0.3221;SAS_AF=0.3824;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.440695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1967579;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4113;AF_popmax=0.5487;AF_male=0.4106;AF_female=0.4123;AF_raw=0.4115;AF_afr=0.5487;AF_sas=.;AF_amr=0.4021;AF_eas=0.4678;AF_nfe=0.3478;AF_fin=0.3685;AF_asj=0.1724;AF_oth=0.3407;non_topmed_AF_popmax=0.5495;non_neuro_AF_popmax=0.5362;non_cancer_AF_popmax=.;controls_AF_popmax=0.5316;Kaviar_AF=0.0714933;Kaviar_AC=11053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +1 237798342 rs41305973 G A 100 PASS AC=17;AF=0.029353;AN=214;NS=2504;DP=15983;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0083;EUR_AF=0.1014;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.029353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305973;CLNALLELEID=249828;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1161;ExAC_nontcga_ALL=0.0692;ExAC_nontcga_AFR=0.0227;ExAC_nontcga_AMR=0.0562;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1266;ExAC_nontcga_NFE=0.1126;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0150;AF=0.0851;AF_popmax=0.1204;AF_male=0.0833;AF_female=0.0873;AF_raw=0.0851;AF_afr=0.0203;AF_sas=.;AF_amr=0.0511;AF_eas=0.0006;AF_nfe=0.1204;AF_fin=0.1357;AF_asj=0.0483;AF_oth=0.0985;non_topmed_AF_popmax=0.1214;non_neuro_AF_popmax=0.1202;non_cancer_AF_popmax=.;controls_AF_popmax=0.1255;Kaviar_AF=0.054346;Kaviar_AC=8402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 237801770 rs707189 T C 100 PASS AC=214;AF=0.954872;AN=214;NS=2504;DP=15801;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8359;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon45:c.T6906C:p.L2302L;1000g2015aug_all=0.954872;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs707189;CLNALLELEID=52988;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9884;ExAC_nontcga_AFR=0.8649;ExAC_nontcga_AMR=0.9951;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9997;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9645;AF_popmax=1;AF_male=0.9638;AF_female=0.9654;AF_raw=0.9645;AF_afr=0.8746;AF_sas=.;AF_amr=0.9882;AF_eas=1;AF_nfe=0.9999;AF_fin=0.9994;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.937362;Kaviar_AC=144918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920601;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237802559 rs530109 T C 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=19415;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9939;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530109;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9993;AF_popmax=1;AF_male=0.9993;AF_female=0.9994;AF_raw=0.9993;AF_afr=0.9976;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237806606 rs138152176 G GT 100 PASS AC=1;AF=0.0129792;AN=214;NS=2504;DP=17657;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0454;EUR_AF=0.001;SAS_AF=0;AA=?|TTTTTTTTT|TTTTTTTTTT|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516549;CLNALLELEID=52993;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0415;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0043;AF=0.0124;AF_popmax=0.0425;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0127;AF_afr=0.0425;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0021;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0423;non_neuro_AF_popmax=0.0395;non_cancer_AF_popmax=.;controls_AF_popmax=0.0368;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237806819 rs11583646 G A 100 PASS AC=23;AF=0.14357;AN=214;NS=2504;DP=16629;EAS_AF=0.126;AMR_AF=0.0778;AFR_AF=0.2179;EUR_AF=0.0984;SAS_AF=0.1544;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11583646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1273;AF_popmax=0.2113;AF_male=0.1264;AF_female=0.1284;AF_raw=0.1272;AF_afr=0.2113;AF_sas=.;AF_amr=0.0674;AF_eas=0.1404;AF_nfe=0.0994;AF_fin=0.0675;AF_asj=0.0414;AF_oth=0.0924;non_topmed_AF_popmax=0.2113;non_neuro_AF_popmax=0.2041;non_cancer_AF_popmax=.;controls_AF_popmax=0.2063;Kaviar_AF=0.02238;Kaviar_AC=3460;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 237811766 rs72549416 C T 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=18262;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.C7365T:p.D2455D;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549416;CLNALLELEID=45409;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0022;ExAC_nontcga_SAS=0.0008;AF=0.0041;AF_popmax=0.0062;AF_male=0.0039;AF_female=0.0042;AF_raw=0.0041;AF_afr=0.0010;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0062;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.003965;Kaviar_AC=613;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929263;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237811896 rs191850147 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17714;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.G7495A:p.A2499T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191850147;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.89;Polyphen2_HVAR_rankscore=0.614;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-2.47;FATHMM_converted_rankscore=0.890;FATHMM_pred=D;PROVEAN_score=-2.69;PROVEAN_converted_rankscore=0.574;PROVEAN_pred=D;VEST3_score=0.462;VEST3_rankscore=0.612;MetaSVM_score=0.775;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.801;MetaLR_rankscore=0.933;MetaLR_pred=D;M-CAP_score=0.586;M-CAP_rankscore=0.963;M-CAP_pred=D;REVEL_score=0.715;REVEL_rankscore=0.900;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.278;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.813;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.808;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=7.931;phyloP100way_vertebrate_rankscore=0.870;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=18.598;SiPhy_29way_logOdds_rankscore=0.912;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909780;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237813126 rs625006 A G 100 PASS AC=92;AF=0.573083;AN=214;NS=2504;DP=19677;EAS_AF=0.8105;AMR_AF=0.5115;AFR_AF=0.5151;EUR_AF=0.4374;SAS_AF=0.59;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.573083;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs625006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4974;AF_popmax=0.8350;AF_male=0.4968;AF_female=0.4981;AF_raw=0.4973;AF_afr=0.5293;AF_sas=.;AF_amr=0.4988;AF_eas=0.8350;AF_nfe=0.4505;AF_fin=0.5043;AF_asj=0.3069;AF_oth=0.4503;non_topmed_AF_popmax=0.8349;non_neuro_AF_popmax=0.8350;non_cancer_AF_popmax=.;controls_AF_popmax=0.8271;Kaviar_AF=0.0942032;Kaviar_AC=14564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|1 +1 237814783 rs684923 C T 100 PASS AC=91;AF=0.554912;AN=214;NS=2504;DP=17313;EAS_AF=0.7956;AMR_AF=0.5029;AFR_AF=0.4864;EUR_AF=0.4324;SAS_AF=0.5624;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;1000g2015aug_all=0.554912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs684923;CLNALLELEID=52996;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4361;ExAC_nontcga_ALL=0.5263;ExAC_nontcga_AFR=0.5183;ExAC_nontcga_AMR=0.5667;ExAC_nontcga_EAS=0.7879;ExAC_nontcga_FIN=0.5098;ExAC_nontcga_NFE=0.4775;ExAC_nontcga_OTH=0.4830;ExAC_nontcga_SAS=0.5244;AF=0.4864;AF_popmax=0.8153;AF_male=0.4865;AF_female=0.4864;AF_raw=0.4862;AF_afr=0.5007;AF_sas=.;AF_amr=0.4941;AF_eas=0.8153;AF_nfe=0.4479;AF_fin=0.5006;AF_asj=0.3;AF_oth=0.4458;non_topmed_AF_popmax=0.8146;non_neuro_AF_popmax=0.8153;non_cancer_AF_popmax=.;controls_AF_popmax=0.8085;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.838067;ALLELE_END GT 1|1 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|1 +1 237814843 rs531775183 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=16275;EAS_AF=0.004;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531775183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.516597;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237817514 rs3831940 GA G 100 PASS AC=40;AF=0.447484;AN=214;NS=2504;DP=19193;EAS_AF=0.5437;AMR_AF=0.3501;AFR_AF=0.593;EUR_AF=0.2286;SAS_AF=0.4458;AA=AAAAAAATA|AAAAAAAAA|AAAAAAAA|complex_deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.447484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3831940;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3765;AF_popmax=0.5846;AF_male=0.3788;AF_female=0.3737;AF_raw=0.3644;AF_afr=0.5621;AF_sas=.;AF_amr=0.3566;AF_eas=0.5846;AF_nfe=0.2619;AF_fin=0.3509;AF_asj=0.1357;AF_oth=0.3240;non_topmed_AF_popmax=0.5820;non_neuro_AF_popmax=0.5846;non_cancer_AF_popmax=.;controls_AF_popmax=0.5686;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +1 237817784 rs669375 A G 100 PASS AC=33;AF=0.353435;AN=214;NS=2504;DP=18883;EAS_AF=0.5228;AMR_AF=0.3098;AFR_AF=0.3124;EUR_AF=0.1948;SAS_AF=0.4284;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.353435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs669375;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2654;AF_popmax=0.5604;AF_male=0.2677;AF_female=0.2625;AF_raw=0.2657;AF_afr=0.3056;AF_sas=.;AF_amr=0.3007;AF_eas=0.5604;AF_nfe=0.2131;AF_fin=0.2731;AF_asj=0.0897;AF_oth=0.2574;non_topmed_AF_popmax=0.5580;non_neuro_AF_popmax=0.5604;non_cancer_AF_popmax=.;controls_AF_popmax=0.5417;Kaviar_AF=0.0061088;Kaviar_AC=159;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +1 237823256 rs10925485 A C 100 PASS AC=12;AF=0.0407348;AN=214;NS=2504;DP=14484;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0991;EUR_AF=0.0457;SAS_AF=0.0031;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925485;CLNALLELEID=249831;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0530;ExAC_nontcga_ALL=0.0599;ExAC_nontcga_AFR=0.1077;ExAC_nontcga_AMR=0.0429;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0693;ExAC_nontcga_NFE=0.0815;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0082;AF=0.0618;AF_popmax=0.0953;AF_male=0.0626;AF_female=0.0608;AF_raw=0.0618;AF_afr=0.0953;AF_sas=.;AF_amr=0.0449;AF_eas=0.0006;AF_nfe=0.0512;AF_fin=0.0599;AF_asj=0.0759;AF_oth=0.0469;non_topmed_AF_popmax=0.0944;non_neuro_AF_popmax=0.1004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0995;Kaviar_AF=0.0431366;Kaviar_AC=6669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534701;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237823258 rs564740529 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14474;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564740529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.523e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.126e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534701;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237829952 rs138671840 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=17108;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138671840;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0016;AF_popmax=0.0026;AF_male=0.0019;AF_female=0.0012;AF_raw=0.0016;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.348525;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237831103 rs477245 C A 100 PASS AC=214;AF=0.952077;AN=214;NS=2504;DP=14562;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8275;EUR_AF=0.997;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.952077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs477245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9591;AF_popmax=1;AF_male=0.9577;AF_female=0.9607;AF_raw=0.9591;AF_afr=0.8543;AF_sas=.;AF_amr=0.9917;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9935;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237831365 rs190730379 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16418;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190730379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0030;AF_male=0.0022;AF_female=0.0014;AF_raw=0.0018;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0006;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0029584;Kaviar_AC=77;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237838001 rs114806261 G A 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=16271;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114806261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0079;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=0.0084;AF_popmax=0.0131;AF_male=0.0084;AF_female=0.0083;AF_raw=0.0083;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0118;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0173;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.106732;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237841339 rs187977513 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19972;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187977513;CLNALLELEID=266956;CLNDN=Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.653611;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237841390 rs34967813 A G 100 PASS AC=54;AF=0.0992412;AN=214;NS=2504;DP=19250;EAS_AF=0;AMR_AF=0.1988;AFR_AF=0.0113;EUR_AF=0.2942;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8873G:p.Q2958R;1000g2015aug_all=0.0992412;GWAS=rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032;ORegAnno_REGULATORY_P=rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032;avsnp150=rs34967813;CLNALLELEID=45411;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_converted_rankscore=0.084;SIFT_pred=T;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_rankscore=0.305;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.208;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.004;MutationTaster_converted_rankscore=0.429;MutationTaster_pred=P;MutationAssessor_score=0.725;MutationAssessor_score_rankscore=0.188;MutationAssessor_pred=N;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-3.33;PROVEAN_converted_rankscore=0.662;PROVEAN_pred=D;VEST3_score=0.538;VEST3_rankscore=0.576;MetaSVM_score=-1.093;MetaSVM_rankscore=0.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.410;REVEL_rankscore=0.725;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.365;CADD_raw_rankscore=0.345;CADD_phred=18.59;DANN_score=0.998;DANN_rankscore=0.895;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_rankscore=0.453;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.088;Eigen-PC-raw=0.270;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.534;integrated_fitCons_score_rankscore=0.214;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=7.206;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=10.287;SiPhy_29way_logOdds_rankscore=0.426;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3042;ExAC_nontcga_ALL=0.2479;ExAC_nontcga_AFR=0.0589;ExAC_nontcga_AMR=0.2369;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.2772;ExAC_nontcga_NFE=0.3501;ExAC_nontcga_OTH=0.2595;ExAC_nontcga_SAS=0.0920;AF=0.2120;AF_popmax=0.3164;AF_male=0.2067;AF_female=0.2188;AF_raw=0.2123;AF_afr=0.0494;AF_sas=.;AF_amr=0.1853;AF_eas=0.0006;AF_nfe=0.3164;AF_fin=0.2412;AF_asj=0.2345;AF_oth=0.2624;non_topmed_AF_popmax=0.3222;non_neuro_AF_popmax=0.3160;non_cancer_AF_popmax=.;controls_AF_popmax=0.3380;Kaviar_AF=0.216757;Kaviar_AC=33511;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917075;ALLELE_END GT 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 +1 237841393 rs536037366 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19175;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8876C:p.E2959A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536037366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.581;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.437;Polyphen2_HVAR_rankscore=0.438;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.449;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.494;MutationTaster_pred=D;MutationAssessor_score=1.195;MutationAssessor_score_rankscore=0.303;MutationAssessor_pred=L;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-4.66;PROVEAN_converted_rankscore=0.794;PROVEAN_pred=D;VEST3_score=0.654;VEST3_rankscore=0.678;MetaSVM_score=0.889;MetaSVM_rankscore=0.955;MetaSVM_pred=D;MetaLR_score=0.858;MetaLR_rankscore=0.953;MetaLR_pred=D;M-CAP_score=0.293;M-CAP_rankscore=0.906;M-CAP_pred=D;REVEL_score=0.676;REVEL_rankscore=0.882;MutPred_score=0.314;MutPred_rankscore=0.290;CADD_raw=4.217;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.987;DANN_rankscore=0.443;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.567;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.648;Eigen-PC-raw=0.689;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.534;integrated_fitCons_score_rankscore=0.214;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=8.947;phyloP100way_vertebrate_rankscore=0.927;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.916;SiPhy_29way_logOdds_rankscore=0.792;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.506e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=8.159e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=8.44e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944688;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237850666 rs10679267 C CT 100 PASS AC=151;AF=0.561102;AN=214;NS=2504;DP=15694;EAS_AF=0.5218;AMR_AF=0.5937;AFR_AF=0.4463;EUR_AF=0.6958;SAS_AF=0.5951;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.561102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10679267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.965336;ALLELE_END GT 1|0 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 1|1 +1 237850703 rs573581880 C T 100 PASS AC=6;AF=0.00559105;AN=214;NS=2504;DP=12823;EAS_AF=0.004;AMR_AF=0.0043;AFR_AF=0.0045;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573581880;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0;AF_popmax=.;AF_male=0;AF_female=0;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0010758;Kaviar_AC=28;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.661070;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 237850729 rs553428682 C T 100 PASS AC=10;AF=0.00958466;AN=214;NS=2504;DP=14607;EAS_AF=0.0089;AMR_AF=0.0159;AFR_AF=0.0061;EUR_AF=0.0179;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553428682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.671939;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 237850816 rs112365440 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15353;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112365440;CLNALLELEID=53004;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0014;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0016;AF_raw=0.0014;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0029;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902829;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862360 rs377719849 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13022;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377719849;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.38e-05;AF_popmax=0.0001;AF_male=5.731e-05;AF_female=7.194e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862421 rs528932128 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528932128;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0005763;Kaviar_AC=15;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.278148;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862436 rs1521744 T C 100 PASS AC=155;AF=0.727436;AN=214;NS=2504;DP=14703;EAS_AF=0.497;AMR_AF=0.7637;AFR_AF=0.8699;EUR_AF=0.7525;SAS_AF=0.7209;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.727436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1521744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7582;AF_popmax=0.8430;AF_male=0.7583;AF_female=0.7581;AF_raw=0.7578;AF_afr=0.8430;AF_sas=.;AF_amr=0.7684;AF_eas=0.4562;AF_nfe=0.7497;AF_fin=0.7272;AF_asj=0.6966;AF_oth=0.7403;non_topmed_AF_popmax=0.8426;non_neuro_AF_popmax=0.8383;non_cancer_AF_popmax=.;controls_AF_popmax=0.8366;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 +1 237863718 rs2797436 T G 100 PASS AC=214;AF=0.969249;AN=214;NS=2504;DP=17661;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;1000g2015aug_all=0.969249;GWAS=rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117;ORegAnno_REGULATORY_P=rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117;avsnp150=rs2797436;CLNALLELEID=53005;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9918;ExAC_nontcga_AFR=0.9080;ExAC_nontcga_AMR=0.9957;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9955;ExAC_nontcga_SAS=0.9992;AF=0.9718;AF_popmax=1;AF_male=0.9709;AF_female=0.9729;AF_raw=0.9716;AF_afr=0.9001;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9994;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.940279;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237865203 rs939699 C T 100 PASS AC=214;AF=0.969249;AN=214;NS=2504;DP=17891;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.969249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs939699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9717;AF_popmax=1;AF_male=0.9710;AF_female=0.9726;AF_raw=0.9716;AF_afr=0.9000;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.193756;Kaviar_AC=29955;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237865451 rs551491310 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17712;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551491310;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.813096;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237870203 rs150353512 C T 100 PASS AC=6;AF=0.00579073;AN=214;NS=2504;DP=20345;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0092;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150353512;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0112;ExAC_nontcga_SAS=0.0092;AF=0.0061;AF_popmax=0.0106;AF_male=0.0063;AF_female=0.0058;AF_raw=0.0061;AF_afr=0.0021;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0055;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0080788;Kaviar_AC=1249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237870542 rs553445235 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16396;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon68:c.G9874A:p.E3292K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553445235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.102;SIFT_converted_rankscore=0.302;SIFT_pred=T;Polyphen2_HDIV_score=0.236;Polyphen2_HDIV_rankscore=0.291;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_rankscore=0.239;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.657;PROVEAN_pred=D;VEST3_score=0.78;VEST3_rankscore=0.771;MetaSVM_score=0.738;MetaSVM_rankscore=0.937;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.170;M-CAP_rankscore=0.848;M-CAP_pred=D;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=0.436;MutPred_rankscore=0.489;CADD_raw=4.327;CADD_raw_rankscore=0.579;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.848;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.959;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.436;Eigen-PC-raw=0.565;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.527e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.394e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.185e-05;AF_popmax=6.481e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921260;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237872714 rs35261418 GT G 100 PASS AC=208;AF=0.765974;AN=214;NS=2504;DP=15615;EAS_AF=0.8958;AMR_AF=0.8775;AFR_AF=0.3971;EUR_AF=0.9732;SAS_AF=0.8384;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.765974;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35261418;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8152;AF_popmax=0.9867;AF_male=0.8115;AF_female=0.8198;AF_raw=0.8082;AF_afr=0.441;AF_sas=.;AF_amr=0.8829;AF_eas=0.9076;AF_nfe=0.9867;AF_fin=0.9457;AF_asj=0.9962;AF_oth=0.9389;non_topmed_AF_popmax=0.9849;non_neuro_AF_popmax=0.9878;non_cancer_AF_popmax=.;controls_AF_popmax=0.9810;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237872887 rs74323916 T C 100 PASS AC=6;AF=0.00938498;AN=214;NS=2504;DP=15984;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.003;EUR_AF=0.0129;SAS_AF=0.0204;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74323916;CLNALLELEID=45389;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0143;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0187;ExAC_nontcga_OTH=0.0163;ExAC_nontcga_SAS=0.0173;AF=0.0084;AF_popmax=0.0165;AF_male=0.0091;AF_female=0.0075;AF_raw=0.0084;AF_afr=0.0049;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0106079;Kaviar_AC=1640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237875040 rs186326951 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186326951;CLNALLELEID=142657;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.068;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.774261;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237875068 rs138073811 C T 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=16525;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon71:c.C10254T:p.N3418N;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138073811;CLNALLELEID=45390;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0.0089;AF=0.0018;AF_popmax=0.0035;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0031;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.00315;Kaviar_AC=487;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907421;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237880443 rs181504021 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=17658;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181504021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237881770 rs2797441 C T 100 PASS AC=214;AF=0.960463;AN=214;NS=2504;DP=15429;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.8555;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;1000g2015aug_all=0.960463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2797441;CLNALLELEID=52868;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9886;ExAC_nontcga_AFR=0.8699;ExAC_nontcga_AMR=0.9955;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9992;AF=0.9627;AF_popmax=1;AF_male=0.9614;AF_female=0.9644;AF_raw=0.9627;AF_afr=0.8672;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9996;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933581;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237890437 rs2685301 C T 100 PASS AC=214;AF=0.960264;AN=214;NS=2504;DP=15780;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.8548;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon76:c.C10776T:p.S3592S;1000g2015aug_all=0.960264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2685301;CLNALLELEID=52871;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9886;ExAC_nontcga_AFR=0.8700;ExAC_nontcga_AMR=0.9952;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9992;AF=0.9630;AF_popmax=1;AF_male=0.9616;AF_female=0.9648;AF_raw=0.9629;AF_afr=0.8683;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9996;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.969903;Kaviar_AC=149949;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855105;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237893674 rs2797445 C T 100 PASS AC=214;AF=0.985224;AN=214;NS=2504;DP=16163;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.947;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.985224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2797445;CLNALLELEID=195829;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9954;ExAC_nontcga_AFR=0.9470;ExAC_nontcga_AMR=0.9979;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9856;AF_popmax=1;AF_male=0.9860;AF_female=0.9851;AF_raw=0.9855;AF_afr=0.9485;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237905520 rs534075544 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14036;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534075544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0026;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0026;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0022;AF_asj=0.0034;AF_oth=0.0029;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0006147;Kaviar_AC=16;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237905568 rs563839853 T TC 100 PASS AC=61;AF=0.195088;AN=214;NS=2504;DP=15317;EAS_AF=0.1776;AMR_AF=0.232;AFR_AF=0.0408;EUR_AF=0.2783;SAS_AF=0.3098;AA=CC|CC|CCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35446101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2912;ExAC_nontcga_ALL=0.1997;ExAC_nontcga_AFR=0.0504;ExAC_nontcga_AMR=0.2262;ExAC_nontcga_EAS=0.1782;ExAC_nontcga_FIN=0.2337;ExAC_nontcga_NFE=0.2293;ExAC_nontcga_OTH=0.2289;ExAC_nontcga_SAS=0.2023;AF=0.1945;AF_popmax=0.2767;AF_male=0.1954;AF_female=0.1934;AF_raw=0.1865;AF_afr=0.0640;AF_sas=.;AF_amr=0.1932;AF_eas=0.2096;AF_nfe=0.2767;AF_fin=0.1475;AF_asj=0.2464;AF_oth=0.2108;non_topmed_AF_popmax=0.2747;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2589;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|0 0|1 1|0 1|0 0|0 0|0 1|1 1|0 0|1 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +1 237905586 rs577119352 A T 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=13555;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0257;EUR_AF=0.002;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577119352;CLNALLELEID=281630;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.012;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0021;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0013;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0034;AF_afr=0.0005;AF_sas=.;AF_amr=0.0013;AF_eas=0.0013;AF_nfe=0.0011;AF_fin=0.0052;AF_asj=0;AF_oth=0.0025;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.029922;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237923053 rs2253831 C T 100 PASS AC=147;AF=0.761581;AN=214;NS=2504;DP=17414;EAS_AF=0.8204;AMR_AF=0.7464;AFR_AF=0.8275;EUR_AF=0.6988;SAS_AF=0.6871;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.761581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253831;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6923;ExAC_nontcga_ALL=0.7127;ExAC_nontcga_AFR=0.8031;ExAC_nontcga_AMR=0.7349;ExAC_nontcga_EAS=0.7715;ExAC_nontcga_FIN=0.7446;ExAC_nontcga_NFE=0.6863;ExAC_nontcga_OTH=0.7029;ExAC_nontcga_SAS=0.6977;AF=0.7292;AF_popmax=0.7984;AF_male=0.7294;AF_female=0.7290;AF_raw=0.7288;AF_afr=0.7984;AF_sas=.;AF_amr=0.7577;AF_eas=0.7761;AF_nfe=0.6807;AF_fin=0.7494;AF_asj=0.7103;AF_oth=0.7130;non_topmed_AF_popmax=0.7984;non_neuro_AF_popmax=0.7923;non_cancer_AF_popmax=.;controls_AF_popmax=0.7913;Kaviar_AF=0.69688;Kaviar_AC=107739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1118953|N/A|USF2|JASPAR,OREG1880749|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.580996;ALLELE_END GT 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 0|0 0|1 1|0 0|1 0|1 1|1 1|1 0|0 0|1 1|0 0|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 +1 237923243 rs3817436 A G 100 PASS AC=18;AF=0.0930511;AN=214;NS=2504;DP=18088;EAS_AF=0.1121;AMR_AF=0.0677;AFR_AF=0.1074;EUR_AF=0.1103;SAS_AF=0.0542;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0930511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3817436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1023;AF_popmax=0.1049;AF_male=0.1035;AF_female=0.1009;AF_raw=0.1025;AF_afr=0.0976;AF_sas=.;AF_amr=0.0696;AF_eas=0.0969;AF_nfe=0.1049;AF_fin=0.1190;AF_asj=0.0655;AF_oth=0.0947;non_topmed_AF_popmax=0.1019;non_neuro_AF_popmax=0.105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0993;Kaviar_AF=0.0208277;Kaviar_AC=3220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1880749|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 +1 237934206 rs113408406 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=16933;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113408406;CLNALLELEID=45392;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0109;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0431;ExAC_nontcga_NFE=0.0200;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0.0019;AF=0.0222;AF_popmax=0.0295;AF_male=0.0212;AF_female=0.0235;AF_raw=0.0222;AF_afr=0.0049;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0295;AF_fin=0.0460;AF_asj=0;AF_oth=0.0276;non_topmed_AF_popmax=0.0285;non_neuro_AF_popmax=0.0290;non_cancer_AF_popmax=.;controls_AF_popmax=0.0255;Kaviar_AF=0.0080853;Kaviar_AC=1250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237941906 rs78765904 C A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=17297;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0256;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78765904;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0080;AF_popmax=0.0142;AF_male=0.0086;AF_female=0.0073;AF_raw=0.0080;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0101;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0027555;Kaviar_AC=426;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.512987;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237941945 rs80013027 G A 100 PASS AC=7;AF=0.0445288;AN=214;NS=2504;DP=16705;EAS_AF=0.0784;AMR_AF=0.0259;AFR_AF=0.0174;EUR_AF=0.0398;SAS_AF=0.0644;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0445288;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80013027;CLNALLELEID=249834;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0458;ExAC_nontcga_ALL=0.0442;ExAC_nontcga_AFR=0.0307;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0.0693;ExAC_nontcga_FIN=0.0706;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0555;AF=0.0461;AF_popmax=0.0538;AF_male=0.0465;AF_female=0.0456;AF_raw=0.0461;AF_afr=0.0334;AF_sas=.;AF_amr=0.0295;AF_eas=0.0538;AF_nfe=0.0476;AF_fin=0.0744;AF_asj=0.0139;AF_oth=0.0470;non_topmed_AF_popmax=0.0545;non_neuro_AF_popmax=0.0538;non_cancer_AF_popmax=.;controls_AF_popmax=0.0579;Kaviar_AF=0.0432336;Kaviar_AC=6684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.408047;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237942082 rs199562036 AACTG A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=18004;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0256;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199562036;CLNALLELEID=172571;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0158;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0165;AF=0.0080;AF_popmax=0.0142;AF_male=0.0086;AF_female=0.0072;AF_raw=0.0080;AF_afr=0.0024;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0149;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.351284;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237944814 rs12135982 C T 100 PASS AC=21;AF=0.121006;AN=214;NS=2504;DP=16496;EAS_AF=0.0317;AMR_AF=0.0965;AFR_AF=0.2814;EUR_AF=0.0964;SAS_AF=0.0389;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.121006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12135982;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0998;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1192;AF_popmax=0.2381;AF_male=0.1213;AF_female=0.1165;AF_raw=0.1193;AF_afr=0.2381;AF_sas=.;AF_amr=0.0790;AF_eas=0.0411;AF_nfe=0.0815;AF_fin=0.0510;AF_asj=0.0655;AF_oth=0.0790;non_topmed_AF_popmax=0.2377;non_neuro_AF_popmax=0.2363;non_cancer_AF_popmax=.;controls_AF_popmax=0.2331;Kaviar_AF=0.0197022;Kaviar_AC=3046;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.616522;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 +1 237946964 rs790889 T C 100 PASS AC=65;AF=0.414736;AN=214;NS=2504;DP=17208;EAS_AF=0.6964;AMR_AF=0.402;AFR_AF=0.2806;EUR_AF=0.3201;SAS_AF=0.4121;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.414736;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790889;CLNALLELEID=52885;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0017;dbscSNV_RF_SCORE=0.088;esp6500siv2_ea=0.3387;ExAC_nontcga_ALL=0.4984;ExAC_nontcga_AFR=0.3974;ExAC_nontcga_AMR=0.5213;ExAC_nontcga_EAS=0.7076;ExAC_nontcga_FIN=0.4275;ExAC_nontcga_NFE=0.4705;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5323;AF=0.3542;AF_popmax=0.6643;AF_male=0.3558;AF_female=0.3521;AF_raw=0.3545;AF_afr=0.3130;AF_sas=.;AF_amr=0.3865;AF_eas=0.6643;AF_nfe=0.3402;AF_fin=0.3635;AF_asj=0.4517;AF_oth=0.3582;non_topmed_AF_popmax=0.6651;non_neuro_AF_popmax=0.6643;non_cancer_AF_popmax=.;controls_AF_popmax=0.6462;Kaviar_AF=0.356794;Kaviar_AC=55161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.603074;ALLELE_END GT 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|1 0|1 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 +1 237947000 rs56226196 C T 100 PASS AC=6;AF=0.0123802;AN=214;NS=2504;DP=18094;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0083;EUR_AF=0.0129;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon90:c.C11988T:p.G3996G;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56226196;CLNALLELEID=52886;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0173;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0168;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0186;AF=0.0105;AF_popmax=0.0177;AF_male=0.0111;AF_female=0.0097;AF_raw=0.0105;AF_afr=0.0093;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.0173;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0097;Kaviar_AF=0.0119403;Kaviar_AC=1846;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.891071;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237948286 rs141528541 A G 100 PASS AC=4;AF=0.0107827;AN=214;NS=2504;DP=17560;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0389;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141528541;CLNALLELEID=45393;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.618;CADD_raw_rankscore=0.153;CADD_phred=8.280;DANN_score=0.629;DANN_rankscore=0.069;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.269;Eigen-PC-raw=-0.140;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.054;integrated_fitCons_score_rankscore=0.004;integrated_confidence_value=0;GERP++_RS=-0.521;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=0.033;phyloP100way_vertebrate_rankscore=0.135;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.178;phastCons20way_mammalian_rankscore=0.212;SiPhy_29way_logOdds=5.854;SiPhy_29way_logOdds_rankscore=0.178;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0151;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0137;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0068;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0309;ExAC_nontcga_SAS=0.0206;AF=0.0055;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0047;AF_raw=0.0055;AF_afr=0.0020;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0029;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0069598;Kaviar_AC=1076;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.383836;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237949440 rs541984163 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17416;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541984163;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.48e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237949456 rs2275690 T C 100 PASS AC=15;AF=0.0407348;AN=214;NS=2504;DP=17186;EAS_AF=0.0327;AMR_AF=0.0461;AFR_AF=0.0454;EUR_AF=0.0666;SAS_AF=0.0123;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275690;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0496;AF_popmax=0.0576;AF_male=0.0511;AF_female=0.0477;AF_raw=0.0497;AF_afr=0.0439;AF_sas=.;AF_amr=0.0472;AF_eas=0.0442;AF_nfe=0.0576;AF_fin=0.0311;AF_asj=0.0621;AF_oth=0.0469;non_topmed_AF_popmax=0.0522;non_neuro_AF_popmax=0.0582;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0114552;Kaviar_AC=1771;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237951226 rs16835813 A G 100 PASS AC=2;AF=0.0397364;AN=214;NS=2504;DP=16839;EAS_AF=0.0605;AMR_AF=0.0115;AFR_AF=0.0378;EUR_AF=0.0288;SAS_AF=0.0521;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0397364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835813;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0426;AF_popmax=0.0467;AF_male=0.0422;AF_female=0.0430;AF_raw=0.0426;AF_afr=0.0467;AF_sas=.;AF_amr=0.0177;AF_eas=0.0455;AF_nfe=0.0355;AF_fin=0.0708;AF_asj=0.0172;AF_oth=0.0414;non_topmed_AF_popmax=0.0471;non_neuro_AF_popmax=0.0455;non_cancer_AF_popmax=.;controls_AF_popmax=0.0459;Kaviar_AF=0.0062806;Kaviar_AC=971;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237951451 rs2256242 A G 100 PASS AC=113;AF=0.636581;AN=214;NS=2504;DP=18813;EAS_AF=0.7024;AMR_AF=0.5187;AFR_AF=0.7935;EUR_AF=0.5099;SAS_AF=0.5706;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.636581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2256242;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5443;ExAC_nontcga_ALL=0.5743;ExAC_nontcga_AFR=0.7744;ExAC_nontcga_AMR=0.4453;ExAC_nontcga_EAS=0.6757;ExAC_nontcga_FIN=0.5189;ExAC_nontcga_NFE=0.5482;ExAC_nontcga_OTH=0.5890;ExAC_nontcga_SAS=0.6129;AF=0.6070;AF_popmax=0.7690;AF_male=0.6111;AF_female=0.6017;AF_raw=0.6069;AF_afr=0.7690;AF_sas=.;AF_amr=0.4752;AF_eas=0.6854;AF_nfe=0.5359;AF_fin=0.5300;AF_asj=0.6345;AF_oth=0.5478;non_topmed_AF_popmax=0.7688;non_neuro_AF_popmax=0.7723;non_cancer_AF_popmax=.;controls_AF_popmax=0.7738;Kaviar_AF=0.549178;Kaviar_AC=84904;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.585776;ALLELE_END GT 0|0 1|0 0|1 0|1 1|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|0 0|1 1|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|0 1|1 1|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 1|0 +1 237951482 rs16835818 G A 100 PASS AC=62;AF=0.297923;AN=214;NS=2504;DP=19540;EAS_AF=0.1171;AMR_AF=0.1974;AFR_AF=0.5772;EUR_AF=0.2773;SAS_AF=0.1994;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.297923;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835818;CLNALLELEID=249835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2861;ExAC_nontcga_ALL=0.2748;ExAC_nontcga_AFR=0.5305;ExAC_nontcga_AMR=0.1398;ExAC_nontcga_EAS=0.1172;ExAC_nontcga_FIN=0.2672;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.2885;ExAC_nontcga_SAS=0.2466;AF=0.3349;AF_popmax=0.5231;AF_male=0.3385;AF_female=0.3303;AF_raw=0.3351;AF_afr=0.5231;AF_sas=.;AF_amr=0.1804;AF_eas=0.1160;AF_nfe=0.2812;AF_fin=0.2635;AF_asj=0.2655;AF_oth=0.2721;non_topmed_AF_popmax=0.5236;non_neuro_AF_popmax=0.5385;non_cancer_AF_popmax=.;controls_AF_popmax=0.5371;Kaviar_AF=0.252616;Kaviar_AC=39055;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 237955364 rs114289907 A G 100 PASS AC=14;AF=0.0535144;AN=214;NS=2504;DP=17584;EAS_AF=0.0298;AMR_AF=0.0303;AFR_AF=0.0582;EUR_AF=0.0298;SAS_AF=0.1125;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114289907;CLNALLELEID=215196;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified;CLNDISDB=MedGen:C4053736,OMIM:604772|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0312;ExAC_nontcga_ALL=0.0705;ExAC_nontcga_AFR=0.0626;ExAC_nontcga_AMR=0.0652;ExAC_nontcga_EAS=0.0385;ExAC_nontcga_FIN=0.0259;ExAC_nontcga_NFE=0.0437;ExAC_nontcga_OTH=0.0105;ExAC_nontcga_SAS=0.1129;AF=0.0376;AF_popmax=0.0543;AF_male=0.0382;AF_female=0.0368;AF_raw=0.0377;AF_afr=0.0543;AF_sas=.;AF_amr=0.0507;AF_eas=0.0378;AF_nfe=0.0309;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0350;non_topmed_AF_popmax=0.0545;non_neuro_AF_popmax=0.0650;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0291523;Kaviar_AC=4507;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.918745;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237955649 rs570819253 CTGTG C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=21026;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529587905;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4544;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.5303;ExAC_nontcga_EAS=0.5011;ExAC_nontcga_FIN=0.4118;ExAC_nontcga_NFE=0.4759;ExAC_nontcga_OTH=0.4315;ExAC_nontcga_SAS=0.3839;AF=0.3092;AF_popmax=0.5256;AF_male=0.3072;AF_female=0.3117;AF_raw=0.2967;AF_afr=0.1033;AF_sas=.;AF_amr=0.3175;AF_eas=0.5256;AF_nfe=0.3917;AF_fin=0.3405;AF_asj=0.5044;AF_oth=0.3701;non_topmed_AF_popmax=0.5263;non_neuro_AF_popmax=0.5256;non_cancer_AF_popmax=.;controls_AF_popmax=0.5169;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.395491;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237955678 rs144369382 T C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=14022;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144369382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3398;AF_popmax=0.5878;AF_male=0.3401;AF_female=0.3394;AF_raw=0.3192;AF_afr=0.1385;AF_sas=.;AF_amr=0.3141;AF_eas=0.5878;AF_nfe=0.3919;AF_fin=0.3783;AF_asj=0.4926;AF_oth=0.3880;non_topmed_AF_popmax=0.5892;non_neuro_AF_popmax=0.5878;non_cancer_AF_popmax=.;controls_AF_popmax=0.5629;Kaviar_AF=0.12452;Kaviar_AC=3241;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237955680 rs146659498 T C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=14150;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146659498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3346;AF_popmax=0.5826;AF_male=0.3344;AF_female=0.3348;AF_raw=0.3163;AF_afr=0.1391;AF_sas=.;AF_amr=0.3221;AF_eas=0.5826;AF_nfe=0.3890;AF_fin=0.3739;AF_asj=0.4963;AF_oth=0.3921;non_topmed_AF_popmax=0.5839;non_neuro_AF_popmax=0.5826;non_cancer_AF_popmax=.;controls_AF_popmax=0.5581;Kaviar_AF=0.0216306;Kaviar_AC=563;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237957146 rs790902 G A 100 PASS AC=125;AF=0.734026;AN=214;NS=2504;DP=16782;EAS_AF=0.9454;AMR_AF=0.7968;AFR_AF=0.5295;EUR_AF=0.6312;SAS_AF=0.8538;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790902;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6579;ExAC_nontcga_ALL=0.7199;ExAC_nontcga_AFR=0.5576;ExAC_nontcga_AMR=0.8295;ExAC_nontcga_EAS=0.9380;ExAC_nontcga_FIN=0.6880;ExAC_nontcga_NFE=0.6640;ExAC_nontcga_OTH=0.6937;ExAC_nontcga_SAS=0.8244;AF=0.6571;AF_popmax=0.9570;AF_male=0.6594;AF_female=0.6542;AF_raw=0.6565;AF_afr=0.5516;AF_sas=.;AF_amr=0.8007;AF_eas=0.9570;AF_nfe=0.6737;AF_fin=0.6690;AF_asj=0.6621;AF_oth=0.6827;non_topmed_AF_popmax=0.9559;non_neuro_AF_popmax=0.9570;non_cancer_AF_popmax=.;controls_AF_popmax=0.9694;Kaviar_AF=0.676544;Kaviar_AC=104595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.475319;ALLELE_END GT 0|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237957161 rs790901 A G 100 PASS AC=127;AF=0.757588;AN=214;NS=2504;DP=16668;EAS_AF=0.9494;AMR_AF=0.804;AFR_AF=0.5688;EUR_AF=0.6501;SAS_AF=0.8926;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.757588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790901;CLNALLELEID=52900;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.6785;ExAC_nontcga_ALL=0.7462;ExAC_nontcga_AFR=0.5946;ExAC_nontcga_AMR=0.8462;ExAC_nontcga_EAS=0.9451;ExAC_nontcga_FIN=0.7158;ExAC_nontcga_NFE=0.6874;ExAC_nontcga_OTH=0.7152;ExAC_nontcga_SAS=0.8658;AF=0.6823;AF_popmax=0.9589;AF_male=0.6855;AF_female=0.6783;AF_raw=0.6822;AF_afr=0.5933;AF_sas=.;AF_amr=0.8090;AF_eas=0.9589;AF_nfe=0.6923;AF_fin=0.6969;AF_asj=0.6862;AF_oth=0.7090;non_topmed_AF_popmax=0.9579;non_neuro_AF_popmax=0.9589;non_cancer_AF_popmax=.;controls_AF_popmax=0.9694;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755143;ALLELE_END GT 0|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237957309 rs790900 A C 100 PASS AC=123;AF=0.750799;AN=214;NS=2504;DP=16986;EAS_AF=0.9494;AMR_AF=0.7925;AFR_AF=0.5772;EUR_AF=0.6431;SAS_AF=0.862;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790900;CLNALLELEID=52901;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6684;ExAC_nontcga_ALL=0.7335;ExAC_nontcga_AFR=0.6008;ExAC_nontcga_AMR=0.8385;ExAC_nontcga_EAS=0.9453;ExAC_nontcga_FIN=0.7098;ExAC_nontcga_NFE=0.6716;ExAC_nontcga_OTH=0.6985;ExAC_nontcga_SAS=0.8435;AF=0.6797;AF_popmax=0.9588;AF_male=0.6826;AF_female=0.6761;AF_raw=0.6797;AF_afr=0.6026;AF_sas=.;AF_amr=0.8019;AF_eas=0.9588;AF_nfe=0.6834;AF_fin=0.6949;AF_asj=0.6793;AF_oth=0.7007;non_topmed_AF_popmax=0.9578;non_neuro_AF_popmax=0.9588;non_cancer_AF_popmax=.;controls_AF_popmax=0.9693;Kaviar_AF=0.709325;Kaviar_AC=109663;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.758262;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 0|1 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237958750 rs35572672 A AT 100 PASS AC=109;AF=0.647764;AN=214;NS=2504;DP=13920;EAS_AF=0.8413;AMR_AF=0.7003;AFR_AF=0.5219;EUR_AF=0.5775;SAS_AF=0.6534;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.647764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35572672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6578;AF_popmax=0.9557;AF_male=0.6605;AF_female=0.6544;AF_raw=0.6466;AF_afr=0.6065;AF_sas=.;AF_amr=0.7071;AF_eas=0.9557;AF_nfe=0.6656;AF_fin=0.5947;AF_asj=0.6412;AF_oth=0.6481;non_topmed_AF_popmax=0.9545;non_neuro_AF_popmax=0.9557;non_cancer_AF_popmax=.;controls_AF_popmax=0.9644;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 +1 237961297 rs201986107 A ATGGTTGTGGTTG 100 PASS AC=5;AF=0.00938498;AN=214;NS=2504;DP=17096;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0307;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.011046;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237965065 rs577393581 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16287;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577393581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237965094 rs2794820 G T 100 PASS AC=80;AF=0.46226;AN=214;NS=2504;DP=16306;EAS_AF=0.6349;AMR_AF=0.4092;AFR_AF=0.4024;EUR_AF=0.3966;SAS_AF=0.4703;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.46226;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2794820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4227;AF_popmax=0.6399;AF_male=0.4266;AF_female=0.4178;AF_raw=0.4227;AF_afr=0.3995;AF_sas=.;AF_amr=0.3933;AF_eas=0.6399;AF_nfe=0.4175;AF_fin=0.4066;AF_asj=0.5172;AF_oth=0.4191;non_topmed_AF_popmax=0.6406;non_neuro_AF_popmax=0.6399;non_cancer_AF_popmax=.;controls_AF_popmax=0.6098;Kaviar_AF=0.0807816;Kaviar_AC=12489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237965131 rs9428384 G A 100 PASS AC=80;AF=0.405152;AN=214;NS=2504;DP=17072;EAS_AF=0.6349;AMR_AF=0.3948;AFR_AF=0.1944;EUR_AF=0.3956;SAS_AF=0.4703;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.405152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9428384;CLNALLELEID=249838;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4032;ExAC_nontcga_ALL=0.4184;ExAC_nontcga_AFR=0.2244;ExAC_nontcga_AMR=0.3627;ExAC_nontcga_EAS=0.6177;ExAC_nontcga_FIN=0.4122;ExAC_nontcga_NFE=0.4119;ExAC_nontcga_OTH=0.4154;ExAC_nontcga_SAS=0.4850;AF=0.3711;AF_popmax=0.6349;AF_male=0.3738;AF_female=0.3676;AF_raw=0.3679;AF_afr=0.2267;AF_sas=.;AF_amr=0.3834;AF_eas=0.6349;AF_nfe=0.4121;AF_fin=0.3977;AF_asj=0.5140;AF_oth=0.4083;non_topmed_AF_popmax=0.6363;non_neuro_AF_popmax=0.6349;non_cancer_AF_popmax=.;controls_AF_popmax=0.6026;Kaviar_AF=0.392524;Kaviar_AC=60685;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355954;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237965133 rs35563566 A AT 100 PASS AC=70;AF=0.377995;AN=214;NS=2504;DP=18436;EAS_AF=0.6091;AMR_AF=0.3573;AFR_AF=0.1899;EUR_AF=0.3668;SAS_AF=0.4202;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.377995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55683196;CLNALLELEID=52905;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3297;ExAC_nontcga_AFR=0.2928;ExAC_nontcga_AMR=0.2916;ExAC_nontcga_EAS=0.4146;ExAC_nontcga_FIN=0.3611;ExAC_nontcga_NFE=0.3296;ExAC_nontcga_OTH=0.3214;ExAC_nontcga_SAS=0.3201;AF=0.3733;AF_popmax=0.5727;AF_male=0.3739;AF_female=0.3725;AF_raw=0.3455;AF_afr=0.3088;AF_sas=.;AF_amr=0.3515;AF_eas=0.5727;AF_nfe=0.3775;AF_fin=0.4307;AF_asj=0.4662;AF_oth=0.3895;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5727;non_cancer_AF_popmax=.;controls_AF_popmax=0.5495;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355954;ALLELE_END GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237969638 rs790879 A G 100 PASS AC=35;AF=0.28774;AN=214;NS=2504;DP=18038;EAS_AF=0.496;AMR_AF=0.2709;AFR_AF=0.2179;EUR_AF=0.1928;SAS_AF=0.2771;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.28774;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2246;AF_popmax=0.5026;AF_male=0.2278;AF_female=0.2205;AF_raw=0.2246;AF_afr=0.2056;AF_sas=.;AF_amr=0.2217;AF_eas=0.5026;AF_nfe=0.2109;AF_fin=0.2163;AF_asj=0.1793;AF_oth=0.2155;non_topmed_AF_popmax=0.5053;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.4758;Kaviar_AF=0.0436864;Kaviar_AC=6754;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 +1 237972148 rs562583470 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14320;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562583470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237972152 rs138333572 T C 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=14325;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0307;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138333572;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0078;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0238;AF=0.0053;AF_popmax=0.0118;AF_male=0.0057;AF_female=0.0048;AF_raw=0.0053;AF_afr=0.0016;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.006337;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237972189 rs41267519 A G 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=14846;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41267519;CLNALLELEID=52909;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.0078;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0239;AF=0.0053;AF_popmax=0.0118;AF_male=0.0057;AF_female=0.0048;AF_raw=0.0053;AF_afr=0.0016;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0083699;Kaviar_AC=1294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.692462;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991614 rs149628023 G C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=21001;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149628023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0056;AF_popmax=0.0090;AF_male=0.0058;AF_female=0.0054;AF_raw=0.0056;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0049;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0097;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.001533;Kaviar_AC=237;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.002539;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991767 rs147311361 T C 100 PASS AC=5;AF=0.00938498;AN=214;NS=2504;DP=18855;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0307;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147311361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0236;AF=0.0057;AF_popmax=0.0130;AF_male=0.0060;AF_female=0.0053;AF_raw=0.0057;AF_afr=0.0015;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0062418;Kaviar_AC=965;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991862 rs140195803 TG T 100 PASS AC=10;AF=0.0209665;AN=214;NS=2504;DP=19447;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0038;EUR_AF=0.0706;SAS_AF=0.0112;AA=GG|GG|G|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0209665;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140195803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0520;AF_popmax=0.0731;AF_male=0.0497;AF_female=0.0549;AF_raw=0.0521;AF_afr=0.0133;AF_sas=.;AF_amr=0.0425;AF_eas=0;AF_nfe=0.0731;AF_fin=0.0774;AF_asj=0.0552;AF_oth=0.0634;non_topmed_AF_popmax=0.0691;non_neuro_AF_popmax=0.0739;non_cancer_AF_popmax=.;controls_AF_popmax=0.0625;Kaviar_AF=0.0106808;Kaviar_AC=278;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 237993743 rs149955622 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22575;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149955622;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237993798 rs76289511 C T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=21207;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76289511;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0028;AF=0.0020;AF_popmax=0.0032;AF_male=0.0021;AF_female=0.0019;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0012;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0029366;Kaviar_AC=454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.902368;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237994957 rs4659818 G A 100 PASS AC=1;AF=0.158347;AN=214;NS=2504;DP=18914;EAS_AF=0.2907;AMR_AF=0.0836;AFR_AF=0.1876;EUR_AF=0.0089;SAS_AF=0.1892;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.158347;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4659818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0693;AF_popmax=0.2946;AF_male=0.0724;AF_female=0.0653;AF_raw=0.0693;AF_afr=0.1690;AF_sas=.;AF_amr=0.0972;AF_eas=0.2946;AF_nfe=0.0057;AF_fin=0.0112;AF_asj=0;AF_oth=0.0341;non_topmed_AF_popmax=0.2943;non_neuro_AF_popmax=0.2946;non_cancer_AF_popmax=.;controls_AF_popmax=0.3055;Kaviar_AF=0.0097347;Kaviar_AC=1505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237996016 rs555641416 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16742;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RYR2;GeneDetail.refGene=NM_001035:c.*69C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555641416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391398|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.642075;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30407387 rs117502839 G A 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=20063;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon2:c.G4A:p.A2T;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117502839;CLNALLELEID=55691;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.123;SIFT_converted_rankscore=0.275;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.974;MutationTaster_converted_rankscore=0.255;MutationTaster_pred=N;MutationAssessor_score=1.545;MutationAssessor_score_rankscore=0.392;MutationAssessor_pred=L;FATHMM_score=-0.72;FATHMM_converted_rankscore=0.730;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.291;VEST3_rankscore=0.350;MetaSVM_score=-0.960;MetaSVM_rankscore=0.392;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.512;MetaLR_pred=T;M-CAP_score=0.041;M-CAP_rankscore=0.601;M-CAP_pred=D;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.332;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_rankscore=0.490;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.353;Eigen-PC-raw=-0.218;GenoCanyon_score=0.915;GenoCanyon_score_rankscore=0.264;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.52;GERP++_RS_rankscore=0.294;phyloP100way_vertebrate=3.557;phyloP100way_vertebrate_rankscore=0.532;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=7.289;SiPhy_29way_logOdds_rankscore=0.254;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0018;AF_popmax=0.0031;AF_male=0.0018;AF_female=0.0017;AF_raw=0.0018;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000648953|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951784;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +20 30408306 rs34396614 C G 100 PASS AC=7;AF=0.00838658;AN=214;NS=2504;DP=16862;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon3:c.C430G:p.P144A;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34396614;CLNALLELEID=45314;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.092;MetaSVM_score=-0.876;MetaSVM_rankscore=0.501;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.483;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.137;REVEL_rankscore=0.375;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.119;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.992;DANN_rankscore=0.540;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_rankscore=0.108;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.025;Eigen-PC-raw=-0.152;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.352;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.72;GERP++_RS_rankscore=0.417;phyloP100way_vertebrate=0.154;phyloP100way_vertebrate_rankscore=0.160;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=9.771;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0202;ExAC_nontcga_ALL=0.0128;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0189;ExAC_nontcga_OTH=0.0190;ExAC_nontcga_SAS=0.0017;AF=0.0127;AF_popmax=0.0205;AF_male=0.0127;AF_female=0.0127;AF_raw=0.0127;AF_afr=0.0041;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0205;AF_fin=0.0052;AF_asj=0.0103;AF_oth=0.0129;non_topmed_AF_popmax=0.0197;non_neuro_AF_popmax=0.0198;non_cancer_AF_popmax=.;controls_AF_popmax=0.0156;Kaviar_AF=0.0137838;Kaviar_AC=2131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000648953|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.842390;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30409207 rs186773680 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17952;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186773680;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313475;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30409452 rs6058469 T C 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=14415;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon4:c.T684C:p.I228I;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6058469;CLNALLELEID=55693;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0802;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1439;ExAC_nontcga_AMR=0.0440;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0736;ExAC_nontcga_NFE=0.0781;ExAC_nontcga_OTH=0.0838;ExAC_nontcga_SAS=0.0237;AF=0.0807;AF_popmax=0.1311;AF_male=0.0807;AF_female=0.0809;AF_raw=0.0808;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0689;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1302;non_neuro_AF_popmax=0.1339;non_cancer_AF_popmax=.;controls_AF_popmax=0.1329;Kaviar_AF=0.0680134;Kaviar_AC=10515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.852089;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30409573 rs6060970 C T 100 PASS AC=23;AF=0.071885;AN=214;NS=2504;DP=9017;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.1483;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0706;ExAC_nontcga_ALL=0.0667;ExAC_nontcga_AFR=0.1457;ExAC_nontcga_AMR=0.0436;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0720;ExAC_nontcga_NFE=0.0779;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0225;AF=0.0788;AF_popmax=0.1276;AF_male=0.0785;AF_female=0.0792;AF_raw=0.0802;AF_afr=0.1276;AF_sas=.;AF_amr=0.0461;AF_eas=0.0013;AF_nfe=0.0644;AF_fin=0.0689;AF_asj=0.0655;AF_oth=0.0684;non_topmed_AF_popmax=0.1266;non_neuro_AF_popmax=0.1313;non_cancer_AF_popmax=.;controls_AF_popmax=0.1310;Kaviar_AF=0.0620302;Kaviar_AC=9590;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.005837;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30409584 rs35574032 G C 100 PASS AC=14;AF=0.0549121;AN=214;NS=2504;DP=9317;EAS_AF=0.001;AMR_AF=0.072;AFR_AF=0.0083;EUR_AF=0.1163;SAS_AF=0.0982;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0549121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35574032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1195;ExAC_nontcga_ALL=0.1002;ExAC_nontcga_AFR=0.0235;ExAC_nontcga_AMR=0.0773;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.1395;ExAC_nontcga_NFE=0.1262;ExAC_nontcga_OTH=0.1180;ExAC_nontcga_SAS=0.1037;AF=0.0862;AF_popmax=0.1192;AF_male=0.0845;AF_female=0.0884;AF_raw=0.0865;AF_afr=0.0256;AF_sas=.;AF_amr=0.0696;AF_eas=0.0032;AF_nfe=0.1192;AF_fin=0.1288;AF_asj=0.0862;AF_oth=0.1015;non_topmed_AF_popmax=0.1194;non_neuro_AF_popmax=0.1205;non_cancer_AF_popmax=.;controls_AF_popmax=0.1225;Kaviar_AF=0.0890868;Kaviar_AC=13773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030764;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +20 30411427 rs6060971 T C 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=18526;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0802;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1439;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0745;ExAC_nontcga_NFE=0.0785;ExAC_nontcga_OTH=0.0843;ExAC_nontcga_SAS=0.0236;AF=0.0810;AF_popmax=0.1317;AF_male=0.0807;AF_female=0.0813;AF_raw=0.0808;AF_afr=0.1317;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0709;non_topmed_AF_popmax=0.1308;non_neuro_AF_popmax=0.1352;non_cancer_AF_popmax=.;controls_AF_popmax=0.1346;Kaviar_AF=0.0670366;Kaviar_AC=10364;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.478916;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30412101 rs41293106 C T 100 PASS AC=1;AF=0.00599042;AN=214;NS=2504;DP=19653;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0149;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon6:c.C918T:p.A306A;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293106;CLNALLELEID=45316;CLNDN=Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0193;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0077;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0164;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0084;AF=0.0101;AF_popmax=0.0167;AF_male=0.0109;AF_female=0.0090;AF_raw=0.0101;AF_afr=0.0031;AF_sas=.;AF_amr=0.0083;AF_eas=0.0013;AF_nfe=0.0167;AF_fin=0.0035;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0096;Kaviar_AF=0.0114358;Kaviar_AC=1768;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501378|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.904036;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414334 rs11907651 G A 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=17926;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11907651;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0803;AF_popmax=0.1302;AF_male=0.0800;AF_female=0.0805;AF_raw=0.0807;AF_afr=0.1302;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0656;AF_fin=0.0692;AF_asj=0.0655;AF_oth=0.0675;non_topmed_AF_popmax=0.1293;non_neuro_AF_popmax=0.1336;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.528867;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30414503 rs17340492 C T 100 PASS AC=5;AF=0.00499201;AN=214;NS=2504;DP=20421;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17340492;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0103;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0156;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0005;AF=0.0109;AF_popmax=0.0134;AF_male=0.0115;AF_female=0.0101;AF_raw=0.0109;AF_afr=0.0039;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0134;AF_fin=0.0230;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0125;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.912412;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414528 rs76530988 G A 100 PASS AC=5;AF=0.00958466;AN=214;NS=2504;DP=19779;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.003;EUR_AF=0.0298;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76530988;CLNALLELEID=45311;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0265;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0112;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0393;ExAC_nontcga_NFE=0.0307;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0018;AF=0.0206;AF_popmax=0.0262;AF_male=0.0209;AF_female=0.0201;AF_raw=0.0207;AF_afr=0.0055;AF_sas=.;AF_amr=0.0260;AF_eas=0;AF_nfe=0.0262;AF_fin=0.0381;AF_asj=0.0379;AF_oth=0.0267;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0272;non_cancer_AF_popmax=.;controls_AF_popmax=0.0231;Kaviar_AF=0.0202779;Kaviar_AC=3135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.326815;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414560 rs41293108 C G 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=18013;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.08;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1437;ExAC_nontcga_AMR=0.0441;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.0782;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.0236;AF=0.0807;AF_popmax=0.1311;AF_male=0.0804;AF_female=0.0812;AF_raw=0.0809;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1301;non_neuro_AF_popmax=0.1343;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.392839;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.08;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1437;ExAC_nontcga_AMR=0.0441;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.0782;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.0236;AF=0.0807;AF_popmax=0.1311;AF_male=0.0804;AF_female=0.0812;AF_raw=0.0809;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1301;non_neuro_AF_popmax=0.1343;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.392839;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30414578 rs11699351 G A 100 PASS AC=7;AF=0.0201677;AN=214;NS=2504;DP=18363;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0497;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11699351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0436;ExAC_nontcga_NFE=0.0438;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0307;AF=0.0288;AF_popmax=0.0408;AF_male=0.0289;AF_female=0.0286;AF_raw=0.0288;AF_afr=0.0063;AF_sas=.;AF_amr=0.0189;AF_eas=0.0013;AF_nfe=0.0408;AF_fin=0.0438;AF_asj=0.0483;AF_oth=0.0322;non_topmed_AF_popmax=0.0382;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.809468;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11699351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0436;ExAC_nontcga_NFE=0.0438;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0307;AF=0.0288;AF_popmax=0.0408;AF_male=0.0289;AF_female=0.0286;AF_raw=0.0288;AF_afr=0.0063;AF_sas=.;AF_amr=0.0189;AF_eas=0.0013;AF_nfe=0.0408;AF_fin=0.0438;AF_asj=0.0483;AF_oth=0.0322;non_topmed_AF_popmax=0.0382;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.809468;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414621 rs6089088 C T 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=19225;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon8:c.C1104T:p.F368F;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6089088;CLNALLELEID=55683;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0384;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0342;ExAC_nontcga_NFE=0.0228;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0120;AF=0.0210;AF_popmax=0.0318;AF_male=0.0195;AF_female=0.0227;AF_raw=0.0211;AF_afr=0.0048;AF_sas=.;AF_amr=0.0318;AF_eas=0.0013;AF_nfe=0.0293;AF_fin=0.0311;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.0333;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0202326;Kaviar_AC=3128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.897062;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30418996 rs140019824 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=12906;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140019824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0048;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0037;AF=0.0038;AF_popmax=0.0056;AF_male=0.0037;AF_female=0.0039;AF_raw=0.0038;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.003454;Kaviar_AC=534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.292048;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +20 30419595 rs144359857 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21055;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon11:c.C1514T:p.T505I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144359857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.392;Polyphen2_HDIV_rankscore=0.328;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.374;Polyphen2_HVAR_rankscore=0.419;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.403;MutationTaster_pred=D;MutationAssessor_score=-0.37;MutationAssessor_score_rankscore=0.031;MutationAssessor_pred=N;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-3.38;PROVEAN_converted_rankscore=0.667;PROVEAN_pred=D;VEST3_score=0.262;VEST3_rankscore=0.319;MetaSVM_score=-0.852;MetaSVM_rankscore=0.519;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.437;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.728;M-CAP_pred=D;REVEL_score=0.165;REVEL_rankscore=0.429;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.477;CADD_raw_rankscore=0.743;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.949;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.641;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.126;Eigen-PC-raw=0.017;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=4.255;phyloP100way_vertebrate_rankscore=0.584;phyloP20way_mammalian=0.843;phyloP20way_mammalian_rankscore=0.344;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=16.286;SiPhy_29way_logOdds_rankscore=0.825;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937496;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30419954 rs6060980 A G 100 PASS AC=23;AF=0.0722843;AN=214;NS=2504;DP=16623;EAS_AF=0.001;AMR_AF=0.0793;AFR_AF=0.152;EUR_AF=0.0805;SAS_AF=0.0245;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060980;CLNALLELEID=45313;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0755;ExAC_nontcga_ALL=0.0776;ExAC_nontcga_AFR=0.1676;ExAC_nontcga_AMR=0.0546;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1004;ExAC_nontcga_NFE=0.0914;ExAC_nontcga_OTH=0.0973;ExAC_nontcga_SAS=0.0275;AF=0.0807;AF_popmax=0.1339;AF_male=0.0808;AF_female=0.0807;AF_raw=0.0809;AF_afr=0.1339;AF_sas=.;AF_amr=0.0472;AF_eas=0.0013;AF_nfe=0.0641;AF_fin=0.0695;AF_asj=0.0655;AF_oth=0.0710;non_topmed_AF_popmax=0.1330;non_neuro_AF_popmax=0.1344;non_cancer_AF_popmax=.;controls_AF_popmax=0.1336;Kaviar_AF=0.0641389;Kaviar_AC=9916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.672132;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30421459 rs6089093 C T 100 PASS AC=44;AF=0.222444;AN=214;NS=2504;DP=18084;EAS_AF=0;AMR_AF=0.1571;AFR_AF=0.5439;EUR_AF=0.2326;SAS_AF=0.0532;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.222444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6089093;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2040;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2908;AF_popmax=0.4723;AF_male=0.2888;AF_female=0.2933;AF_raw=0.2910;AF_afr=0.4723;AF_sas=.;AF_amr=0.1745;AF_eas=0.0013;AF_nfe=0.2209;AF_fin=0.3145;AF_asj=0.2345;AF_oth=0.2767;non_topmed_AF_popmax=0.4725;non_neuro_AF_popmax=0.4765;non_cancer_AF_popmax=.;controls_AF_popmax=0.4765;Kaviar_AF=0.0385571;Kaviar_AC=5961;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.214015::0.213232;Heart_Left_Ventricle=Heart_Left_Ventricle::0.215074::0.276584;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.357362;ALLELE_END GT 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 +20 31996336 rs532358011 T G 100 PASS AC=2;AF=0.0365415;AN=214;NS=2504;DP=18570;EAS_AF=0.0317;AMR_AF=0.0591;AFR_AF=0.0295;EUR_AF=0.0258;SAS_AF=0.046;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon8:c.A1495C:p.T499P;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532358011;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.585;Polyphen2_HVAR_rankscore=0.562;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.386;LRT_pred=N;MutationTaster_score=0.783;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.02;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-3.51;PROVEAN_converted_rankscore=0.683;PROVEAN_pred=D;VEST3_score=0.812;VEST3_rankscore=0.801;MetaSVM_score=0.432;MetaSVM_rankscore=0.896;MetaSVM_pred=D;MetaLR_score=0.609;MetaLR_rankscore=0.861;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.647;REVEL_rankscore=0.868;MutPred_score=0.442;MutPred_rankscore=0.499;CADD_raw=3.397;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.996;DANN_rankscore=0.723;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.912;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.384;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.52;GERP++_RS_rankscore=0.546;phyloP100way_vertebrate=4.767;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=9.038;SiPhy_29way_logOdds_rankscore=0.353;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.634e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=3.7e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.679101;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32000351 rs291694 A G 100 PASS AC=144;AF=0.6877;AN=214;NS=2504;DP=17611;EAS_AF=0.628;AMR_AF=0.7709;AFR_AF=0.6831;EUR_AF=0.662;SAS_AF=0.7229;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.6877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs291694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6893;ExAC_nontcga_ALL=0.6949;ExAC_nontcga_AFR=0.6870;ExAC_nontcga_AMR=0.8109;ExAC_nontcga_EAS=0.6264;ExAC_nontcga_FIN=0.6124;ExAC_nontcga_NFE=0.6933;ExAC_nontcga_OTH=0.6809;ExAC_nontcga_SAS=0.6927;AF=0.6793;AF_popmax=0.7724;AF_male=0.6800;AF_female=0.6784;AF_raw=0.6785;AF_afr=0.6965;AF_sas=.;AF_amr=0.7724;AF_eas=0.6328;AF_nfe=0.6871;AF_fin=0.5999;AF_asj=0.6897;AF_oth=0.6753;non_topmed_AF_popmax=0.7728;non_neuro_AF_popmax=0.7798;non_cancer_AF_popmax=.;controls_AF_popmax=0.7764;Kaviar_AF=0.682941;Kaviar_AC=105584;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.216822;ALLELE_END GT 0|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 0|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 1|0 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 +20 32000462 rs35938843 C T 100 PASS AC=2;AF=0.0071885;AN=214;NS=2504;DP=18774;EAS_AF=0.001;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.G828A:p.K276K;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35938843;CLNALLELEID=222853;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0165;AF=0.0105;AF_popmax=0.0176;AF_male=0.0108;AF_female=0.0103;AF_raw=0.0105;AF_afr=0.0031;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0180;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0109184;Kaviar_AC=1688;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001050272|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.409965;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32000520 rs56157422 G C 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18921;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.C770G:p.A257G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56157422;CLNALLELEID=189373;CLNDN=Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_rankscore=0.532;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.804;Polyphen2_HVAR_rankscore=0.565;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.82;MutationAssessor_score_rankscore=0.479;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.822;VEST3_rankscore=0.810;MetaSVM_score=-0.552;MetaSVM_rankscore=0.667;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_rankscore=0.651;MetaLR_pred=T;M-CAP_score=0.126;M-CAP_rankscore=0.808;M-CAP_pred=D;REVEL_score=0.357;REVEL_rankscore=0.681;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.849;CADD_raw_rankscore=0.651;CADD_phred=24.8;DANN_score=0.995;DANN_rankscore=0.651;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.942;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.324;Eigen-PC-raw=0.239;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=7.262;phyloP100way_vertebrate_rankscore=0.776;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.395;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=17.860;SiPhy_29way_logOdds_rankscore=0.886;Interpro_domain=PH_domain-like|Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0022;AF_popmax=0.0041;AF_male=0.0019;AF_female=0.0024;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001050272|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1524827|N/A|ESR1|PAZAR,OREG1533887|N/A|ESR1|PAZAR,OREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.220788;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32031206 rs572545726 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=6057;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.C221T:p.P74L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572545726;CLNALLELEID=259063;CLNDN=Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.106;LRT_converted_rankscore=0.196;LRT_pred=N;MutationTaster_score=0.698;MutationTaster_converted_rankscore=0.334;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=0.71;FATHMM_converted_rankscore=0.512;FATHMM_pred=T;PROVEAN_score=-1.52;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.155;MetaSVM_score=-1.009;MetaSVM_rankscore=0.272;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.292;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.143;CADD_raw_rankscore=0.204;CADD_phred=11.45;DANN_score=0.986;DANN_rankscore=0.424;fathmm-MKL_coding_score=0.447;fathmm-MKL_coding_rankscore=0.271;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.704;Eigen-PC-raw=-0.667;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=2.54;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=2.610;phyloP100way_vertebrate_rankscore=0.457;phyloP20way_mammalian=0.760;phyloP20way_mammalian_rankscore=0.310;phastCons100way_vertebrate=0.982;phastCons100way_vertebrate_rankscore=0.353;phastCons20way_mammalian=0.459;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=9.329;SiPhy_29way_logOdds_rankscore=0.370;Interpro_domain=PDZ_domain|Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0294;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0021;AF_popmax=0.0039;AF_male=0.0019;AF_female=0.0024;AF_raw=0.0021;AF_afr=0.0002;AF_sas=.;AF_amr=0.0013;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0048;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000136252|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187477|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.787778;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32031227 rs536755693 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.C200T:p.A67V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536755693;CLNALLELEID=488008;CLNDN=Long_QT_syndrome|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.434;SIFT_converted_rankscore=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.224;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.225;Polyphen2_HVAR_pred=B;LRT_score=0.065;LRT_converted_rankscore=0.219;LRT_pred=N;MutationTaster_score=0.891;MutationTaster_converted_rankscore=0.359;MutationTaster_pred=D;MutationAssessor_score=1.01;MutationAssessor_score_rankscore=0.254;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-0.98;PROVEAN_converted_rankscore=0.260;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.188;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.288;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.623;M-CAP_pred=D;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=0.16;MutPred_rankscore=0.064;CADD_raw=1.553;CADD_raw_rankscore=0.249;CADD_phred=13.60;DANN_score=0.988;DANN_rankscore=0.457;fathmm-MKL_coding_score=0.724;fathmm-MKL_coding_rankscore=0.352;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.447;Eigen-PC-raw=-0.319;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=3.64;GERP++_RS_rankscore=0.407;phyloP100way_vertebrate=0.155;phyloP100way_vertebrate_rankscore=0.161;phyloP20way_mammalian=0.857;phyloP20way_mammalian_rankscore=0.375;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=12.872;SiPhy_29way_logOdds_rankscore=0.572;Interpro_domain=Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000136252|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187477|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.791355;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42743454 rs6093935 A G 100 PASS AC=66;AF=0.257388;AN=214;NS=2504;DP=18425;EAS_AF=0.1101;AMR_AF=0.219;AFR_AF=0.469;EUR_AF=0.3101;SAS_AF=0.0961;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon5:c.T2073C:p.F691F;1000g2015aug_all=0.257388;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6093935;CLNALLELEID=141314;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3065;ExAC_nontcga_ALL=0.3082;ExAC_nontcga_AFR=0.4811;ExAC_nontcga_AMR=0.2474;ExAC_nontcga_EAS=0.1069;ExAC_nontcga_FIN=0.3875;ExAC_nontcga_NFE=0.3514;ExAC_nontcga_OTH=0.2821;ExAC_nontcga_SAS=0.1399;AF=0.3297;AF_popmax=0.4601;AF_male=0.3288;AF_female=0.3309;AF_raw=0.3304;AF_afr=0.4601;AF_sas=.;AF_amr=0.1718;AF_eas=0.0854;AF_nfe=0.3044;AF_fin=0.2724;AF_asj=0.3448;AF_oth=0.3002;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4595;non_cancer_AF_popmax=.;controls_AF_popmax=0.4535;Kaviar_AF=0.247313;Kaviar_AC=38235;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674575;ALLELE_END GT 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 1|0 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 1|1 +20 42743559 rs201572464 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16953;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201572464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.192e-05;AF_popmax=6.498e-05;AF_male=5.735e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.498e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.04e-05;non_neuro_AF_popmax=7.363e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.652494;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42743616 rs111521448 G C 100 PASS AC=6;AF=0.00499201;AN=214;NS=2504;DP=19193;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111521448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0090;AF_popmax=0.0136;AF_male=0.0089;AF_female=0.0090;AF_raw=0.0090;AF_afr=0.0033;AF_sas=.;AF_amr=0.0083;AF_eas=0.0006;AF_nfe=0.0136;AF_fin=0.0037;AF_asj=0.0172;AF_oth=0.0156;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0117566;Kaviar_AC=306;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42744265 rs56061946 G C 100 PASS AC=14;AF=0.104433;AN=214;NS=2504;DP=13142;EAS_AF=0.0288;AMR_AF=0.1023;AFR_AF=0.2383;EUR_AF=0.0855;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.104433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56061946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0740;ExAC_nontcga_ALL=0.0717;ExAC_nontcga_AFR=0.2064;ExAC_nontcga_AMR=0.0496;ExAC_nontcga_EAS=0.0206;ExAC_nontcga_FIN=0.0759;ExAC_nontcga_NFE=0.0727;ExAC_nontcga_OTH=0.0632;ExAC_nontcga_SAS=0.0329;AF=0.1063;AF_popmax=0.2069;AF_male=0.1065;AF_female=0.1059;AF_raw=0.1062;AF_afr=0.2069;AF_sas=.;AF_amr=0.0650;AF_eas=0.0129;AF_nfe=0.0738;AF_fin=0.0621;AF_asj=0.0931;AF_oth=0.0722;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.2128;non_cancer_AF_popmax=.;controls_AF_popmax=0.2079;Kaviar_AF=0.0727352;Kaviar_AC=11245;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935933;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +20 42744587 rs74352869 G C 100 PASS AC=51;AF=0.152955;AN=214;NS=2504;DP=10507;EAS_AF=0.0804;AMR_AF=0.1254;AFR_AF=0.2345;EUR_AF=0.2247;SAS_AF=0.0634;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1728G:p.P576P;1000g2015aug_all=0.152955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74352869;CLNALLELEID=141312;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1887;ExAC_nontcga_ALL=0.2083;ExAC_nontcga_AFR=0.2926;ExAC_nontcga_AMR=0.1467;ExAC_nontcga_EAS=0.0750;ExAC_nontcga_FIN=0.2840;ExAC_nontcga_NFE=0.2773;ExAC_nontcga_OTH=0.2014;ExAC_nontcga_SAS=0.0944;AF=0.2261;AF_popmax=0.2597;AF_male=0.2250;AF_female=0.2274;AF_raw=0.2263;AF_afr=0.2597;AF_sas=.;AF_amr=0.1182;AF_eas=0.0711;AF_nfe=0.2304;AF_fin=0.2136;AF_asj=0.2517;AF_oth=0.2357;non_topmed_AF_popmax=0.2611;non_neuro_AF_popmax=0.2458;non_cancer_AF_popmax=.;controls_AF_popmax=0.2516;Kaviar_AF=0.139054;Kaviar_AC=21498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.775908;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|1 +20 42744802 rs140740776 C T 100 PASS AC=3;AF=0.0153754;AN=214;NS=2504;DP=9258;EAS_AF=0.004;AMR_AF=0.0029;AFR_AF=0.0204;EUR_AF=0.0109;SAS_AF=0.0337;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1513A:p.G505S;1000g2015aug_all=0.0153754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140740776;CLNALLELEID=39415;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.617;SIFT_converted_rankscore=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.167;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.122;LRT_converted_rankscore=0.190;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_converted_rankscore=0.593;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_converted_rankscore=0.055;PROVEAN_pred=N;VEST3_score=0.125;VEST3_rankscore=0.141;MetaSVM_score=-1.061;MetaSVM_rankscore=0.115;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_rankscore=0.169;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.084;REVEL_rankscore=0.250;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.202;CADD_raw_rankscore=0.113;CADD_phred=4.698;DANN_score=0.803;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.994;Eigen-PC-raw=-1.044;GenoCanyon_score=0.966;GenoCanyon_score_rankscore=0.288;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.03;GERP++_RS_rankscore=0.191;phyloP100way_vertebrate=0.011;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=-0.649;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=3.534;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.004;ExAC_nontcga_ALL=0.0552;ExAC_nontcga_AFR=0.1316;ExAC_nontcga_AMR=0.0227;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0728;AF=0.0115;AF_popmax=0.0204;AF_male=0.0115;AF_female=0.0116;AF_raw=0.0117;AF_afr=0.0204;AF_sas=.;AF_amr=0.0072;AF_eas=0.0013;AF_nfe=0.0080;AF_fin=0.0096;AF_asj=0.0172;AF_oth=0.0129;non_topmed_AF_popmax=0.0207;non_neuro_AF_popmax=0.025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0271;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.737037;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42745033 rs116986535 G A 100 PASS AC=4;AF=0.00738818;AN=214;NS=2504;DP=13465;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0023;EUR_AF=0.0268;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116986535;CLNALLELEID=141311;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0132;ExAC_nontcga_AMR=0.0288;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0833;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0085;ExAC_nontcga_SAS=0.0060;AF=0.0217;AF_popmax=0.0318;AF_male=0.0218;AF_female=0.0216;AF_raw=0.0217;AF_afr=0.0052;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0318;AF_fin=0.0282;AF_asj=0.0103;AF_oth=0.0257;non_topmed_AF_popmax=0.0332;non_neuro_AF_popmax=0.0314;non_cancer_AF_popmax=.;controls_AF_popmax=0.0359;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.475903;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42747247 rs3810510 C T 100 PASS AC=28;AF=0.270367;AN=214;NS=2504;DP=19145;EAS_AF=0.3571;AMR_AF=0.1009;AFR_AF=0.3933;EUR_AF=0.1163;SAS_AF=0.2935;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;1000g2015aug_all=0.270367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810510;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.544;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_converted_rankscore=0.200;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_converted_rankscore=0.421;MutationTaster_pred=P;MutationAssessor_score=1.655;MutationAssessor_score_rankscore=0.426;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_converted_rankscore=0.618;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.102;VEST3_rankscore=0.106;MetaSVM_score=-1.000;MetaSVM_rankscore=0.298;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.175;REVEL_rankscore=0.447;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.490;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.998;DANN_rankscore=0.907;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_rankscore=0.511;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.299;Eigen-PC-raw=0.296;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=3.84;GERP++_RS_rankscore=0.433;phyloP100way_vertebrate=4.340;phyloP100way_vertebrate_rankscore=0.589;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=11.654;SiPhy_29way_logOdds_rankscore=0.504;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1290;ExAC_nontcga_ALL=0.1861;ExAC_nontcga_AFR=0.3441;ExAC_nontcga_AMR=0.0903;ExAC_nontcga_EAS=0.3741;ExAC_nontcga_FIN=0.1023;ExAC_nontcga_NFE=0.1342;ExAC_nontcga_OTH=0.1671;ExAC_nontcga_SAS=0.2812;AF=0.1973;AF_popmax=0.3628;AF_male=0.2023;AF_female=0.1909;AF_raw=0.1973;AF_afr=0.3400;AF_sas=.;AF_amr=0.1050;AF_eas=0.3628;AF_nfe=0.1302;AF_fin=0.1021;AF_asj=0.1138;AF_oth=0.1688;non_topmed_AF_popmax=0.3613;non_neuro_AF_popmax=0.3628;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.436092;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 +20 42747254 rs7268512 G A 100 PASS AC=25;AF=0.048722;AN=214;NS=2504;DP=19041;EAS_AF=0.0109;AMR_AF=0.0447;AFR_AF=0.0719;EUR_AF=0.0895;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.C1179T:p.H393H;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7268512;CLNALLELEID=141309;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1027;ExAC_nontcga_ALL=0.0690;ExAC_nontcga_AFR=0.0798;ExAC_nontcga_AMR=0.0384;ExAC_nontcga_EAS=0.0081;ExAC_nontcga_FIN=0.0786;ExAC_nontcga_NFE=0.0930;ExAC_nontcga_OTH=0.0620;ExAC_nontcga_SAS=0.0296;AF=0.0846;AF_popmax=0.1011;AF_male=0.0843;AF_female=0.0850;AF_raw=0.0847;AF_afr=0.0768;AF_sas=.;AF_amr=0.0483;AF_eas=0.0154;AF_nfe=0.1011;AF_fin=0.0690;AF_asj=0.0690;AF_oth=0.0956;non_topmed_AF_popmax=0.1028;non_neuro_AF_popmax=0.1003;non_cancer_AF_popmax=.;controls_AF_popmax=0.1015;Kaviar_AF=0.0727675;Kaviar_AC=11250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.604477;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 +20 42789053 rs201197277 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=12534;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201197277;CLNALLELEID=141307;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0011;dbscSNV_RF_SCORE=0.02;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0141;AF=0.0014;AF_popmax=0.0022;AF_male=0.0014;AF_female=0.0014;AF_raw=0.0014;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.002652;Kaviar_AC=410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.791148;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42789056 rs111987307 G C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=12622;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111987307;CLNALLELEID=141306;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.048;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0105;ExAC_nontcga_SAS=0.0013;AF=0.0052;AF_popmax=0.0053;AF_male=0.0047;AF_female=0.0058;AF_raw=0.0052;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0196;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0084;Kaviar_AF=0.0036545;Kaviar_AC=565;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.791148;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42806581 rs200421367 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JPH2;GeneDetail.refGene=NM_175913:c.*21C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200421367;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42806597 rs202158831 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20194;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JPH2;GeneDetail.refGene=NM_175913:c.*5G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202158831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.371e-05;AF_popmax=0.0002;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.594677;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42814931 rs6031442 T C 100 PASS AC=175;AF=0.862819;AN=214;NS=2504;DP=13298;EAS_AF=0.8194;AMR_AF=0.889;AFR_AF=0.9425;EUR_AF=0.8231;SAS_AF=0.8221;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.862819;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6031442;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8244;ExAC_nontcga_ALL=0.8489;ExAC_nontcga_AFR=0.9332;ExAC_nontcga_AMR=0.9165;ExAC_nontcga_EAS=0.8313;ExAC_nontcga_FIN=0.8363;ExAC_nontcga_NFE=0.8275;ExAC_nontcga_OTH=0.8536;ExAC_nontcga_SAS=0.8410;AF=0.8572;AF_popmax=0.9299;AF_male=0.8595;AF_female=0.8543;AF_raw=0.8567;AF_afr=0.9299;AF_sas=.;AF_amr=0.9002;AF_eas=0.8049;AF_nfe=0.8303;AF_fin=0.8225;AF_asj=0.7931;AF_oth=0.8278;non_topmed_AF_popmax=0.9295;non_neuro_AF_popmax=0.9303;non_cancer_AF_popmax=.;controls_AF_popmax=0.9329;Kaviar_AF=0.827687;Kaviar_AC=127962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000137483|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.717802;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +20 42815190 rs1883790 G A 100 PASS AC=175;AF=0.854233;AN=214;NS=2504;DP=14977;EAS_AF=0.745;AMR_AF=0.8948;AFR_AF=0.9607;EUR_AF=0.827;SAS_AF=0.8221;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;1000g2015aug_all=0.854233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883790;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8293;ExAC_nontcga_ALL=0.8459;ExAC_nontcga_AFR=0.9412;ExAC_nontcga_AMR=0.9249;ExAC_nontcga_EAS=0.7455;ExAC_nontcga_FIN=0.8417;ExAC_nontcga_NFE=0.8318;ExAC_nontcga_OTH=0.8444;ExAC_nontcga_SAS=0.8361;AF=0.8605;AF_popmax=0.9362;AF_male=0.8618;AF_female=0.8590;AF_raw=0.8603;AF_afr=0.9362;AF_sas=.;AF_amr=0.9066;AF_eas=0.7371;AF_nfe=0.8376;AF_fin=0.8294;AF_asj=0.8138;AF_oth=0.8330;non_topmed_AF_popmax=0.9358;non_neuro_AF_popmax=0.9362;non_cancer_AF_popmax=.;controls_AF_popmax=0.9387;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000137483|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918953;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +20 61039958 rs6061550 T C 100 PASS AC=100;AF=0.629193;AN=214;NS=2504;DP=12990;EAS_AF=0.5238;AMR_AF=0.451;AFR_AF=0.8442;EUR_AF=0.4791;SAS_AF=0.728;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;1000g2015aug_all=0.629193;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6061550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5094;ExAC_nontcga_ALL=0.5506;ExAC_nontcga_AFR=0.7964;ExAC_nontcga_AMR=0.4282;ExAC_nontcga_EAS=0.5169;ExAC_nontcga_FIN=0.5229;ExAC_nontcga_NFE=0.5140;ExAC_nontcga_OTH=0.5425;ExAC_nontcga_SAS=0.6516;AF=0.6042;AF_popmax=0.8030;AF_male=0.6045;AF_female=0.6039;AF_raw=0.6033;AF_afr=0.8030;AF_sas=.;AF_amr=0.4415;AF_eas=0.4974;AF_nfe=0.5371;AF_fin=0.5124;AF_asj=0.5172;AF_oth=0.5555;non_topmed_AF_popmax=0.8033;non_neuro_AF_popmax=0.8059;non_cancer_AF_popmax=.;controls_AF_popmax=0.8090;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.655235;ALLELE_END GT 0|1 0|1 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 +20 61040014 rs146484782 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11111;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.G1072A:p.G358S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146484782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.745;SIFT_converted_rankscore=0.036;SIFT_pred=T;Polyphen2_HDIV_score=0.056;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=N;MutationTaster_score=0.838;MutationTaster_converted_rankscore=0.286;MutationTaster_pred=N;MutationAssessor_score=-0.895;MutationAssessor_score_rankscore=0.014;MutationAssessor_pred=N;FATHMM_score=-4.79;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=0.34;PROVEAN_converted_rankscore=0.038;PROVEAN_pred=N;VEST3_score=0.045;VEST3_rankscore=0.025;MetaSVM_score=0.011;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.702;MetaLR_rankscore=0.897;MetaLR_pred=D;M-CAP_score=0.036;M-CAP_rankscore=0.570;M-CAP_pred=D;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.651;CADD_raw_rankscore=0.260;CADD_phred=14.13;DANN_score=0.617;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.284;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.792;Eigen-PC-raw=-0.555;GenoCanyon_score=0.971;GenoCanyon_score_rankscore=0.292;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=0.015;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=0.058;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.969;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.779;phastCons20way_mammalian_rankscore=0.330;SiPhy_29way_logOdds=7.345;SiPhy_29way_logOdds_rankscore=0.257;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0005;AF_male=5.813e-05;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.57e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.984617;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61040453 rs6061243 C G 100 PASS AC=94;AF=0.534545;AN=214;NS=2504;DP=12861;EAS_AF=0.4613;AMR_AF=0.4755;AFR_AF=0.7171;EUR_AF=0.4642;SAS_AF=0.4775;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;1000g2015aug_all=0.534545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6061243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4841;ExAC_nontcga_ALL=0.4943;ExAC_nontcga_AFR=0.6712;ExAC_nontcga_AMR=0.4594;ExAC_nontcga_EAS=0.4890;ExAC_nontcga_FIN=0.4878;ExAC_nontcga_NFE=0.4900;ExAC_nontcga_OTH=0.5215;ExAC_nontcga_SAS=0.4407;AF=0.5417;AF_popmax=0.6695;AF_male=0.5435;AF_female=0.5394;AF_raw=0.5413;AF_afr=0.6695;AF_sas=.;AF_amr=0.4610;AF_eas=0.4658;AF_nfe=0.5035;AF_fin=0.4654;AF_asj=0.4345;AF_oth=0.5037;non_topmed_AF_popmax=0.6689;non_neuro_AF_popmax=0.6774;non_cancer_AF_popmax=.;controls_AF_popmax=0.6813;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413158|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.786518;ALLELE_END GT 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 +20 61040951 rs6587239 C T 100 PASS AC=95;AF=0.529553;AN=214;NS=2504;DP=16945;EAS_AF=0.4315;AMR_AF=0.4769;AFR_AF=0.7224;EUR_AF=0.4622;SAS_AF=0.4765;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon5:c.G852A:p.K284K;1000g2015aug_all=0.529553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6587239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4776;ExAC_nontcga_ALL=0.5471;ExAC_nontcga_AFR=0.6878;ExAC_nontcga_AMR=0.5453;ExAC_nontcga_EAS=0.5272;ExAC_nontcga_FIN=0.5655;ExAC_nontcga_NFE=0.5504;ExAC_nontcga_OTH=0.5761;ExAC_nontcga_SAS=0.4708;AF=0.5376;AF_popmax=0.6727;AF_male=0.5385;AF_female=0.5364;AF_raw=0.5373;AF_afr=0.6727;AF_sas=.;AF_amr=0.4587;AF_eas=0.4306;AF_nfe=0.4987;AF_fin=0.4602;AF_asj=0.4276;AF_oth=0.4972;non_topmed_AF_popmax=0.6721;non_neuro_AF_popmax=0.6819;non_cancer_AF_popmax=.;controls_AF_popmax=0.6852;Kaviar_AF=0.442724;Kaviar_AC=68446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.086064;ALLELE_END GT 1|1 0|0 0|1 0|1 0|1 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 +20 61040991 rs140408446 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15649;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140408446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=5.734e-05;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041422 rs570057748 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14785;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570057748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041640 rs34380624 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13099;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34380624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0005;AF=0.0006;AF_popmax=0.0011;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041651 rs548885139 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13232;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548885139;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041653 rs6061244 G C 100 PASS AC=94;AF=0.420327;AN=214;NS=2504;DP=13229;EAS_AF=0.1915;AMR_AF=0.33;AFR_AF=0.5847;EUR_AF=0.3936;SAS_AF=0.5256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.420327;GWAS=rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027;ORegAnno_REGULATORY_P=rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027;avsnp150=rs6061244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3733;ExAC_nontcga_ALL=0.4798;ExAC_nontcga_AFR=0.5838;ExAC_nontcga_AMR=0.4034;ExAC_nontcga_EAS=0.1682;ExAC_nontcga_FIN=0.4583;ExAC_nontcga_NFE=0.4391;ExAC_nontcga_OTH=0.4322;ExAC_nontcga_SAS=0.4934;AF=0.4244;AF_popmax=0.5570;AF_male=0.4258;AF_female=0.4228;AF_raw=0.4246;AF_afr=0.5570;AF_sas=.;AF_amr=0.2995;AF_eas=0.1853;AF_nfe=0.4121;AF_fin=0.2975;AF_asj=0.4583;AF_oth=0.3766;non_topmed_AF_popmax=0.5558;non_neuro_AF_popmax=0.5684;non_cancer_AF_popmax=.;controls_AF_popmax=0.5589;Kaviar_AF=0.175043;Kaviar_AC=27062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|0 1|0 1|0 1|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|1 1|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 0|1 +20 61048460 rs116164480 A G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=15214;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.T698C:p.L233P;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116164480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.039;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.723;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.412;Polyphen2_HVAR_rankscore=0.431;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.481;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.74;MutationAssessor_score_rankscore=0.453;MutationAssessor_pred=L;FATHMM_score=-6.4;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-4.34;PROVEAN_converted_rankscore=0.768;PROVEAN_pred=D;VEST3_score=0.377;VEST3_rankscore=0.437;MetaSVM_score=0.906;MetaSVM_rankscore=0.958;MetaSVM_pred=D;MetaLR_score=0.959;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.851;M-CAP_rankscore=0.989;M-CAP_pred=D;REVEL_score=0.756;REVEL_rankscore=0.918;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.750;CADD_raw_rankscore=0.508;CADD_phred=23.3;DANN_score=0.998;DANN_rankscore=0.912;fathmm-MKL_coding_score=0.934;fathmm-MKL_coding_rankscore=0.579;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.243;Eigen-PC-raw=0.234;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.65;GERP++_RS_rankscore=0.575;phyloP100way_vertebrate=6.093;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.193;phyloP20way_mammalian_rankscore=0.911;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.124;SiPhy_29way_logOdds_rankscore=0.646;Interpro_domain=Zinc_finger,_GATA-type|Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.4452;dbscSNV_RF_SCORE=0.502;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0009;AF_popmax=0.0016;AF_male=0.0008;AF_female=0.0011;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001216;Kaviar_AC=188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.107154;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61048549 rs41305803 G A 100 PASS AC=94;AF=0.388179;AN=214;NS=2504;DP=12093;EAS_AF=0.3403;AMR_AF=0.438;AFR_AF=0.4501;EUR_AF=0.4404;SAS_AF=0.2648;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;1000g2015aug_all=0.388179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4344;ExAC_nontcga_ALL=0.4413;ExAC_nontcga_AFR=0.4653;ExAC_nontcga_AMR=0.4797;ExAC_nontcga_EAS=0.4121;ExAC_nontcga_FIN=0.4961;ExAC_nontcga_NFE=0.4697;ExAC_nontcga_OTH=0.4562;ExAC_nontcga_SAS=0.3045;AF=0.4239;AF_popmax=0.4409;AF_male=0.4250;AF_female=0.4226;AF_raw=0.4238;AF_afr=0.4253;AF_sas=.;AF_amr=0.4409;AF_eas=0.3601;AF_nfe=0.4329;AF_fin=0.4067;AF_asj=0.4069;AF_oth=0.4246;non_topmed_AF_popmax=0.4369;non_neuro_AF_popmax=0.4384;non_cancer_AF_popmax=.;controls_AF_popmax=0.4334;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040156;ALLELE_END GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|1 0|1 0|1 0|0 1|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|0 0|0 1|1 1|0 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 1|1 0|0 1|0 +20 61050082 rs141950357 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=11905;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.G496A:p.G166S;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141950357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.386;Polyphen2_HDIV_rankscore=0.327;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.966;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=0.917;MutationTaster_converted_rankscore=0.366;MutationTaster_pred=D;MutationAssessor_score=1.03;MutationAssessor_score_rankscore=0.257;MutationAssessor_pred=L;FATHMM_score=-4.39;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=0.47;PROVEAN_converted_rankscore=0.031;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.131;MetaSVM_rankscore=0.794;MetaSVM_pred=T;MetaLR_score=0.591;MetaLR_rankscore=0.854;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.293;REVEL_rankscore=0.617;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.628;CADD_raw_rankscore=0.377;CADD_phred=20.4;DANN_score=0.955;DANN_rankscore=0.264;fathmm-MKL_coding_score=0.666;fathmm-MKL_coding_rankscore=0.329;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.180;Eigen-PC-raw=-1.084;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.354;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-1.08;GERP++_RS_rankscore=0.094;phyloP100way_vertebrate=1.075;phyloP100way_vertebrate_rankscore=0.301;phyloP20way_mammalian=-0.464;phyloP20way_mammalian_rankscore=0.055;phastCons100way_vertebrate=0.957;phastCons100way_vertebrate_rankscore=0.332;phastCons20way_mammalian=0.331;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=7.990;SiPhy_29way_logOdds_rankscore=0.292;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0236;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0543;AF=0.0001;AF_popmax=0.0001;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.801386;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050154 rs111554140 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=12002;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.T424C:p.Y142H;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111554140;CLNALLELEID=410785;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.497;MutationTaster_pred=D;MutationAssessor_score=2.96;MutationAssessor_score_rankscore=0.854;MutationAssessor_pred=M;FATHMM_score=-5.81;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=-2.97;PROVEAN_converted_rankscore=0.618;PROVEAN_pred=D;VEST3_score=0.752;VEST3_rankscore=0.747;MetaSVM_score=1.091;MetaSVM_rankscore=0.993;MetaSVM_pred=D;MetaLR_score=0.977;MetaLR_rankscore=0.993;MetaLR_pred=D;M-CAP_score=0.918;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.857;REVEL_rankscore=0.957;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.737;CADD_raw_rankscore=0.635;CADD_phred=24.6;DANN_score=0.997;DANN_rankscore=0.777;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.550;Eigen-PC-raw=0.417;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=5.315;phyloP100way_vertebrate_rankscore=0.654;phyloP20way_mammalian=1.170;phyloP20way_mammalian_rankscore=0.901;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.237;phastCons20way_mammalian_rankscore=0.225;SiPhy_29way_logOdds=13.579;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.308121;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050379 rs6142775 T G 100 PASS AC=35;AF=0.142572;AN=214;NS=2504;DP=10076;EAS_AF=0.1042;AMR_AF=0.1888;AFR_AF=0.0734;EUR_AF=0.161;SAS_AF=0.2239;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A199C:p.T67P;1000g2015aug_all=0.142572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6142775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.851;SIFT_converted_rankscore=0.027;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_converted_rankscore=0.266;MutationTaster_pred=P;MutationAssessor_score=-0.61;MutationAssessor_score_rankscore=0.022;MutationAssessor_pred=N;FATHMM_score=-4.73;FATHMM_converted_rankscore=0.981;FATHMM_pred=D;PROVEAN_score=0.56;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-0.686;MetaSVM_rankscore=0.611;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.113;CADD_raw_rankscore=0.104;CADD_phred=3.744;DANN_score=0.440;DANN_rankscore=0.033;fathmm-MKL_coding_score=0.231;fathmm-MKL_coding_rankscore=0.217;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.212;Eigen-PC-raw=-1.117;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.8;GERP++_RS_rankscore=0.240;phyloP100way_vertebrate=-0.201;phyloP100way_vertebrate_rankscore=0.094;phyloP20way_mammalian=-0.428;phyloP20way_mammalian_rankscore=0.059;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=6.326;SiPhy_29way_logOdds_rankscore=0.203;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=ENSG00000130700.6|ENSG00000130700.6|ENSG00000130700.6|ENSG00000130700.6|ENSG00000272050.1;GTEx_V6p_tissue=Esophagus_Muscularis|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3667;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.375;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.3571;AF=0.1523;AF_popmax=0.2057;AF_male=0.1520;AF_female=0.1527;AF_raw=0.1524;AF_afr=0.0991;AF_sas=.;AF_amr=0.2057;AF_eas=0.1207;AF_nfe=0.1795;AF_fin=0.1591;AF_asj=0.1632;AF_oth=0.1716;non_topmed_AF_popmax=0.2043;non_neuro_AF_popmax=0.2101;non_cancer_AF_popmax=.;controls_AF_popmax=0.2213;Kaviar_AF=0.0343851;Kaviar_AC=5316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.830015;ALLELE_END GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 +20 61050552 rs564720227 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=8853;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.C26G:p.A9G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564720227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.485;Polyphen2_HDIV_rankscore=0.350;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_converted_rankscore=0.212;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.202;MutationTaster_pred=N;MutationAssessor_score=1.76;MutationAssessor_score_rankscore=0.459;MutationAssessor_pred=L;FATHMM_score=-4.92;FATHMM_converted_rankscore=0.984;FATHMM_pred=D;PROVEAN_score=-0.98;PROVEAN_converted_rankscore=0.260;PROVEAN_pred=N;VEST3_score=0.063;VEST3_rankscore=0.048;MetaSVM_score=0.541;MetaSVM_rankscore=0.911;MetaSVM_pred=D;MetaLR_score=0.871;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.921;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=0.701;MutPred_rankscore=0.838;CADD_raw=1.970;CADD_raw_rankscore=0.298;CADD_phred=16.02;DANN_score=0.989;DANN_rankscore=0.481;fathmm-MKL_coding_score=0.654;fathmm-MKL_coding_rankscore=0.325;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.329;Eigen-PC-raw=-0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.9;GERP++_RS_rankscore=0.247;phyloP100way_vertebrate=3.315;phyloP100way_vertebrate_rankscore=0.514;phyloP20way_mammalian=0.025;phyloP20way_mammalian_rankscore=0.148;phastCons100way_vertebrate=0.625;phastCons100way_vertebrate_rankscore=0.277;phastCons20way_mammalian=0.091;phastCons20way_mammalian_rankscore=0.185;SiPhy_29way_logOdds=7.926;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0020;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.522779;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050625 rs78235297 G A 100 PASS AC=5;AF=0.101837;AN=214;NS=2504;DP=9484;EAS_AF=0.0437;AMR_AF=0.0245;AFR_AF=0.1778;EUR_AF=0.0109;SAS_AF=0.2076;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78235297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0937;ExAC_nontcga_AFR=0.3597;ExAC_nontcga_AMR=0.0680;ExAC_nontcga_EAS=0.1096;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0275;ExAC_nontcga_OTH=0.0455;ExAC_nontcga_SAS=0.3924;AF=0.0524;AF_popmax=0.1572;AF_male=0.0529;AF_female=0.0517;AF_raw=0.0525;AF_afr=0.1572;AF_sas=.;AF_amr=0.0225;AF_eas=0.0476;AF_nfe=0.0091;AF_fin=0.0040;AF_asj=0.0207;AF_oth=0.0230;non_topmed_AF_popmax=0.1576;non_neuro_AF_popmax=0.1586;non_cancer_AF_popmax=.;controls_AF_popmax=0.1575;Kaviar_AF=0.0207242;Kaviar_AC=3204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +21 35742722 rs9305548 C T 100 PASS AC=34;AF=0.286941;AN=214;NS=2504;DP=18056;EAS_AF=0.2232;AMR_AF=0.1628;AFR_AF=0.4977;EUR_AF=0.1193;SAS_AF=0.3282;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.286941;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9305548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2320;AF_popmax=0.4515;AF_male=0.2385;AF_female=0.2238;AF_raw=0.2321;AF_afr=0.4515;AF_sas=.;AF_amr=0.1344;AF_eas=0.2224;AF_nfe=0.1455;AF_fin=0.1148;AF_asj=0.1840;AF_oth=0.1783;non_topmed_AF_popmax=0.4518;non_neuro_AF_popmax=0.4415;non_cancer_AF_popmax=.;controls_AF_popmax=0.4431;Kaviar_AF=0.0366101;Kaviar_AC=5660;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361661;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 +21 35742750 rs41314677 A G 100 PASS AC=4;AF=0.0744808;AN=214;NS=2504;DP=18869;EAS_AF=0.002;AMR_AF=0.0389;AFR_AF=0.2231;EUR_AF=0.0139;SAS_AF=0.0358;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0744808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41314677;CLNALLELEID=257450;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0387;ExAC_nontcga_AFR=0.1959;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0118;ExAC_nontcga_NFE=0.0272;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0369;AF=0.0694;AF_popmax=0.1865;AF_male=0.0720;AF_female=0.0662;AF_raw=0.0694;AF_afr=0.1865;AF_sas=.;AF_amr=0.0271;AF_eas=0.0013;AF_nfe=0.0284;AF_fin=0.0147;AF_asj=0.0138;AF_oth=0.0331;non_topmed_AF_popmax=0.1863;non_neuro_AF_popmax=0.1899;non_cancer_AF_popmax=.;controls_AF_popmax=0.1844;Kaviar_AF=0.0386023;Kaviar_AC=5968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.254505;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +21 35742947 rs74315448 T C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=20424;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.T170C:p.I57T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74315448;CLNALLELEID=21093;CLNDN=Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_rankscore=0.636;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.468;MutationTaster_pred=A;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-3.06;FATHMM_converted_rankscore=0.925;FATHMM_pred=D;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.982;VEST3_rankscore=0.985;MetaSVM_score=0.631;MetaSVM_rankscore=0.923;MetaSVM_pred=D;MetaLR_score=0.747;MetaLR_rankscore=0.914;MetaLR_pred=D;M-CAP_score=0.155;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.863;REVEL_rankscore=0.959;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.453;CADD_raw_rankscore=0.740;CADD_phred=26.1;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_rankscore=0.675;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.659;Eigen-PC-raw=0.667;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=6.808;phyloP100way_vertebrate_rankscore=0.748;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=15.564;SiPhy_29way_logOdds_rankscore=0.759;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0002;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905103;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821609 rs200684060 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21076;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.C324T:p.V108V,KCNE1:NM_001270404:exon2:c.C324T:p.V108V,KCNE1:NM_001127668:exon3:c.C324T:p.V108V,KCNE1:NM_001127669:exon3:c.C324T:p.V108V,KCNE1:NM_001270402:exon3:c.C324T:p.V108V,KCNE1:NM_001270403:exon3:c.C324T:p.V108V,KCNE1:NM_001270405:exon3:c.C324T:p.V108V,KCNE1B:NM_001330065:exon3:c.C333T:p.V111V,KCNE1:NM_000219:exon4:c.C324T:p.V108V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200684060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.836e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.597612;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821680 rs1805128 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21581;EAS_AF=0.005;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.G253A:p.D85N,KCNE1:NM_001270404:exon2:c.G253A:p.D85N,KCNE1:NM_001127668:exon3:c.G253A:p.D85N,KCNE1:NM_001127669:exon3:c.G253A:p.D85N,KCNE1:NM_001270402:exon3:c.G253A:p.D85N,KCNE1:NM_001270403:exon3:c.G253A:p.D85N,KCNE1:NM_001270405:exon3:c.G253A:p.D85N,KCNE1B:NM_001330065:exon3:c.G262A:p.D88N,KCNE1:NM_000219:exon4:c.G253A:p.D85N;1000g2015aug_all=0.00379393;GWAS=rs1805128|QT-interval|7.409|3E-15|PMID:30679814;ORegAnno_REGULATORY_P=rs1805128|QT-interval|7.409|3E-15|PMID:30679814;avsnp150=rs1805128;CLNALLELEID=28518;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C1867904,OMIM:613695|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other,_risk_factor;SIFT_score=0.034;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=0.575;Polyphen2_HDIV_rankscore=0.368;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.268;Polyphen2_HVAR_rankscore=0.381;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=N;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-3.13;FATHMM_converted_rankscore=0.928;FATHMM_pred=D;PROVEAN_score=-2.9;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=D;VEST3_score=0.034;VEST3_rankscore=0.463;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.596;MetaLR_rankscore=0.856;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.892;CADD_raw_rankscore=0.408;CADD_phred=21.8;DANN_score=0.994;DANN_rankscore=0.616;fathmm-MKL_coding_score=0.762;fathmm-MKL_coding_rankscore=0.371;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.148;Eigen-PC-raw=-0.203;GenoCanyon_score=0.207;GenoCanyon_score_rankscore=0.182;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.24;GERP++_RS_rankscore=0.493;phyloP100way_vertebrate=2.975;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=7.900;SiPhy_29way_logOdds_rankscore=0.287;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0122;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0058;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0014;AF=0.0084;AF_popmax=0.0104;AF_male=0.0093;AF_female=0.0073;AF_raw=0.0085;AF_afr=0.0017;AF_sas=.;AF_amr=0.0035;AF_eas=0.0064;AF_nfe=0.0104;AF_fin=0.0167;AF_asj=0.0241;AF_oth=0.0101;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.562698;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821821 rs1805127 T C 100 PASS AC=127;AF=0.673922;AN=214;NS=2504;DP=18741;EAS_AF=0.7083;AMR_AF=0.6138;AFR_AF=0.7247;EUR_AF=0.6243;SAS_AF=0.6636;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1B:NM_001330065:exon3:c.A121G:p.S41G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;1000g2015aug_all=0.673922;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805127;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_converted_rankscore=0.066;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.021;VEST3_rankscore=0.289;MetaSVM_score=-0.957;MetaSVM_rankscore=0.397;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.283;REVEL_rankscore=0.605;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.420;CADD_raw_rankscore=0.019;CADD_phred=0.003;DANN_score=0.891;DANN_rankscore=0.179;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_rankscore=0.020;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.414;Eigen-PC-raw=-1.392;GenoCanyon_score=0.008;GenoCanyon_score_rankscore=0.116;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.18;GERP++_RS_rankscore=0.143;phyloP100way_vertebrate=-1.038;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=-0.954;phyloP20way_mammalian_rankscore=0.024;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.877;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6369;ExAC_nontcga_ALL=0.6458;ExAC_nontcga_AFR=0.7114;ExAC_nontcga_AMR=0.5955;ExAC_nontcga_EAS=0.7185;ExAC_nontcga_FIN=0.5624;ExAC_nontcga_NFE=0.6427;ExAC_nontcga_OTH=0.6261;ExAC_nontcga_SAS=0.6542;AF=0.6582;AF_popmax=0.7326;AF_male=0.6615;AF_female=0.6540;AF_raw=0.6582;AF_afr=0.7081;AF_sas=.;AF_amr=0.5591;AF_eas=0.7326;AF_nfe=0.6452;AF_fin=0.5784;AF_asj=0.7153;AF_oth=0.6538;non_topmed_AF_popmax=0.7332;non_neuro_AF_popmax=0.7326;non_cancer_AF_popmax=.;controls_AF_popmax=0.7462;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.420721;ALLELE_END GT 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 1|0 0|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 +21 35821849 rs17173510 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=18562;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.G84A:p.S28S,KCNE1:NM_001270404:exon2:c.G84A:p.S28S,KCNE1:NM_001127668:exon3:c.G84A:p.S28S,KCNE1:NM_001127669:exon3:c.G84A:p.S28S,KCNE1:NM_001270402:exon3:c.G84A:p.S28S,KCNE1:NM_001270403:exon3:c.G84A:p.S28S,KCNE1:NM_001270405:exon3:c.G84A:p.S28S,KCNE1B:NM_001330065:exon3:c.G93A:p.S31S,KCNE1:NM_000219:exon4:c.G84A:p.S28S;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17173510;CLNALLELEID=176235;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.096e-05;AF=0.0033;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0030;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0020;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0034;Kaviar_AF=0.0039003;Kaviar_AC=603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.547099;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821939 rs548697948 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21246;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1B:NM_001330065:exon3:c.G3A:p.M1I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548697948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.846;CADD_raw_rankscore=0.175;CADD_phred=9.743;DANN_score=0.835;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.099;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.371;Eigen-PC-raw=-0.110;GenoCanyon_score=0.019;GenoCanyon_score_rankscore=0.132;integrated_fitCons_score=0.075;integrated_fitCons_score_rankscore=0.013;integrated_confidence_value=0;GERP++_RS=2.25;GERP++_RS_rankscore=0.272;phyloP100way_vertebrate=-0.006;phyloP100way_vertebrate_rankscore=0.127;phyloP20way_mammalian=0.622;phyloP20way_mammalian_rankscore=0.289;phastCons100way_vertebrate=0.022;phastCons100way_vertebrate_rankscore=0.197;phastCons20way_mammalian=0.147;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=3.334;SiPhy_29way_logOdds_rankscore=0.066;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.542e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.977e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.577943;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19864694 rs200619889 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17271;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200619889;CLNALLELEID=378587;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0033;AF=0.0002;AF_popmax=0.0003;AF_male=5.741e-05;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513432|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.545331;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19865925 rs200312334 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22808;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200312334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.471e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513432|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.531187;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19867771 rs1139795 C T 100 PASS AC=41;AF=0.269169;AN=214;NS=2504;DP=18114;EAS_AF=0.0327;AMR_AF=0.1729;AFR_AF=0.6415;EUR_AF=0.1581;SAS_AF=0.1922;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.269169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139795;CLNALLELEID=259119;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.1832;ExAC_nontcga_AFR=0.5673;ExAC_nontcga_AMR=0.1422;ExAC_nontcga_EAS=0.0315;ExAC_nontcga_FIN=0.0962;ExAC_nontcga_NFE=0.1600;ExAC_nontcga_OTH=0.1735;ExAC_nontcga_SAS=0.1945;AF=0.2491;AF_popmax=0.5453;AF_male=0.2551;AF_female=0.2415;AF_raw=0.2493;AF_afr=0.5453;AF_sas=.;AF_amr=0.1592;AF_eas=0.0251;AF_nfe=0.1511;AF_fin=0.0904;AF_asj=0.2483;AF_oth=0.1697;non_topmed_AF_popmax=0.5454;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5460;Kaviar_AF=0.180043;Kaviar_AC=27835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.204044::-0.33228;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.876249;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +22 19868218 rs1139793 A G 100 PASS AC=162;AF=0.718251;AN=214;NS=2504;DP=18718;EAS_AF=0.623;AMR_AF=0.6239;AFR_AF=0.9516;EUR_AF=0.7217;SAS_AF=0.5644;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.718251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139793;CLNALLELEID=259118;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.216;SIFT_converted_rankscore=0.192;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.228;MutationTaster_pred=P;MutationAssessor_score=-0.595;MutationAssessor_score_rankscore=0.022;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_converted_rankscore=0.336;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.120;MetaSVM_score=-0.981;MetaSVM_rankscore=0.349;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.145;REVEL_rankscore=0.391;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.110;CADD_raw_rankscore=0.315;CADD_phred=16.92;DANN_score=0.780;DANN_rankscore=0.117;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.652;Eigen-PC-raw=-0.427;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.733;integrated_fitCons_score_rankscore=0.969;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=5.829;phyloP100way_vertebrate_rankscore=0.688;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.106;phastCons20way_mammalian_rankscore=0.191;SiPhy_29way_logOdds=13.614;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=ENSG00000232926.1|ENSG00000232926.1|ENSG00000215012.4|ENSG00000232926.1|ENSG00000232926.1;GTEx_V6p_tissue=Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7377;ExAC_nontcga_ALL=0.6957;ExAC_nontcga_AFR=0.9148;ExAC_nontcga_AMR=0.5490;ExAC_nontcga_EAS=0.6040;ExAC_nontcga_FIN=0.6915;ExAC_nontcga_NFE=0.7403;ExAC_nontcga_OTH=0.6822;ExAC_nontcga_SAS=0.5811;AF=0.7665;AF_popmax=0.9158;AF_male=0.7660;AF_female=0.7670;AF_raw=0.7656;AF_afr=0.9158;AF_sas=.;AF_amr=0.6291;AF_eas=0.5757;AF_nfe=0.7309;AF_fin=0.6777;AF_asj=0.7966;AF_oth=0.7264;non_topmed_AF_popmax=0.9154;non_neuro_AF_popmax=0.9131;non_cancer_AF_popmax=.;controls_AF_popmax=0.9106;Kaviar_AF=0.69829;Kaviar_AC=107957;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.253025;ALLELE_END GT 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 0|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 +22 19868228 rs35544159 G A 100 PASS AC=1;AF=0.0169728;AN=214;NS=2504;DP=18846;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0545;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35544159;CLNALLELEID=259128;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0473;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0007;AF=0.0123;AF_popmax=0.0389;AF_male=0.0127;AF_female=0.0119;AF_raw=0.0123;AF_afr=0.0389;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0003;AF_asj=0.0104;AF_oth=0.0074;non_topmed_AF_popmax=0.0389;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0421;Kaviar_AF=0.006811;Kaviar_AC=1053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.119797;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19868255 rs34827823 AG A 100 PASS AC=42;AF=0.156749;AN=214;NS=2504;DP=20960;EAS_AF=0.0089;AMR_AF=0.1124;AFR_AF=0.3275;EUR_AF=0.1551;SAS_AF=0.1115;AA=?|GGGGGG|GGGGG|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.156749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34827823;CLNALLELEID=507628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1610;ExAC_nontcga_ALL=0.1465;ExAC_nontcga_AFR=0.2920;ExAC_nontcga_AMR=0.0938;ExAC_nontcga_EAS=0.0119;ExAC_nontcga_FIN=0.1104;ExAC_nontcga_NFE=0.1644;ExAC_nontcga_OTH=0.1640;ExAC_nontcga_SAS=0.1240;AF=0.1666;AF_popmax=0.2655;AF_male=0.1697;AF_female=0.1628;AF_raw=0.1667;AF_afr=0.2655;AF_sas=.;AF_amr=0.1179;AF_eas=0.0096;AF_nfe=0.1479;AF_fin=0.0898;AF_asj=0.2414;AF_oth=0.1317;non_topmed_AF_popmax=0.2650;non_neuro_AF_popmax=0.2672;non_cancer_AF_popmax=.;controls_AF_popmax=0.2607;Kaviar_AF=0.0045536;Kaviar_AC=704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 +22 19870831 rs2239893 C T 100 PASS AC=68;AF=0.221645;AN=214;NS=2504;DP=15669;EAS_AF=0.2758;AMR_AF=0.2435;AFR_AF=0.1233;EUR_AF=0.2903;SAS_AF=0.2127;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239893;CLNALLELEID=379816;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2962;ExAC_nontcga_ALL=0.2668;ExAC_nontcga_AFR=0.1615;ExAC_nontcga_AMR=0.2197;ExAC_nontcga_EAS=0.2685;ExAC_nontcga_FIN=0.2795;ExAC_nontcga_NFE=0.3064;ExAC_nontcga_OTH=0.2776;ExAC_nontcga_SAS=0.2154;AF=0.2591;AF_popmax=0.3011;AF_male=0.2561;AF_female=0.2629;AF_raw=0.2592;AF_afr=0.1678;AF_sas=.;AF_amr=0.2736;AF_eas=0.2612;AF_nfe=0.3011;AF_fin=0.2818;AF_asj=0.3517;AF_oth=0.2827;non_topmed_AF_popmax=0.3056;non_neuro_AF_popmax=0.3001;non_cancer_AF_popmax=.;controls_AF_popmax=0.3043;Kaviar_AF=0.266141;Kaviar_AC=41146;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.323864::0.288118;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|1 1|1 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 +22 19871018 rs201897683 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19576;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201897683;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=9.496e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19882984 rs5992495 T G 100 PASS AC=32;AF=0.251198;AN=214;NS=2504;DP=18587;EAS_AF=0.0516;AMR_AF=0.1599;AFR_AF=0.5507;EUR_AF=0.173;SAS_AF=0.1973;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;1000g2015aug_all=0.251198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5992495;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.416;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_converted_rankscore=0.028;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.235;MutationAssessor_score_rankscore=0.039;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_converted_rankscore=0.568;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.210;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.166;MetaSVM_score=-0.952;MetaSVM_rankscore=0.407;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.829;CADD_raw_rankscore=0.010;CADD_phred=0.002;DANN_score=0.245;DANN_rankscore=0.011;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_rankscore=0.053;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.285;Eigen-PC-raw=-2.265;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-2.79;GERP++_RS_rankscore=0.055;phyloP100way_vertebrate=-0.812;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=-2.460;phyloP20way_mammalian_rankscore=0.003;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.766;SiPhy_29way_logOdds_rankscore=0.081;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=ENSG00000232926.1|ENSG00000184470.15|ENSG00000184470.15|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000184470.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1662;ExAC_nontcga_ALL=0.1867;ExAC_nontcga_AFR=0.5140;ExAC_nontcga_AMR=0.1375;ExAC_nontcga_EAS=0.0657;ExAC_nontcga_FIN=0.1259;ExAC_nontcga_NFE=0.1653;ExAC_nontcga_OTH=0.1797;ExAC_nontcga_SAS=0.2041;AF=0.2504;AF_popmax=0.5166;AF_male=0.2500;AF_female=0.2509;AF_raw=0.2507;AF_afr=0.5166;AF_sas=.;AF_amr=0.1277;AF_eas=0.0584;AF_nfe=0.1588;AF_fin=0.1315;AF_asj=0.1910;AF_oth=0.1891;non_topmed_AF_popmax=0.5171;non_neuro_AF_popmax=0.5154;non_cancer_AF_popmax=.;controls_AF_popmax=0.5234;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.206439::-0.573061;Heart_Left_Ventricle=Heart_Left_Ventricle::0.209559::-0.436539;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944307|N/A|ZNF263|PAZAR,OREG1513448|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19883123 rs189646218 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20736;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189646218;CLNALLELEID=507481;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +22 19885548 rs12169091 G T 100 PASS AC=32;AF=0.242212;AN=214;NS=2504;DP=15961;EAS_AF=0.0516;AMR_AF=0.1556;AFR_AF=0.5197;EUR_AF=0.172;SAS_AF=0.1973;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242212;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12169091;CLNALLELEID=378611;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1568;ExAC_nontcga_ALL=0.2448;ExAC_nontcga_AFR=0.5076;ExAC_nontcga_AMR=0.2548;ExAC_nontcga_EAS=0.1047;ExAC_nontcga_FIN=0.3077;ExAC_nontcga_NFE=0.2206;ExAC_nontcga_OTH=0.1970;ExAC_nontcga_SAS=0.2130;AF=0.2402;AF_popmax=0.4804;AF_male=0.2383;AF_female=0.2425;AF_raw=0.2405;AF_afr=0.4804;AF_sas=.;AF_amr=0.1265;AF_eas=0.0584;AF_nfe=0.1585;AF_fin=0.1314;AF_asj=0.1897;AF_oth=0.1875;non_topmed_AF_popmax=0.4808;non_neuro_AF_popmax=0.4772;non_cancer_AF_popmax=.;controls_AF_popmax=0.4837;Kaviar_AF=0.111493;Kaviar_AC=17237;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204545::-0.561474;Heart_Left_Ventricle=Heart_Left_Ventricle::0.205882::-0.437179;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513442|N/A|EGR1|PAZAR,OREG1944316|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19898818 rs55715863 C A 100 PASS AC=1;AF=0.0483227;AN=214;NS=2504;DP=17212;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.062;EUR_AF=0.0229;SAS_AF=0.0951;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0483227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55715863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0296;AF_popmax=0.0541;AF_male=0.0300;AF_female=0.0291;AF_raw=0.0297;AF_afr=0.0541;AF_sas=.;AF_amr=0.0236;AF_eas=0.0334;AF_nfe=0.0194;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0539;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0060543;Kaviar_AC=936;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.032197::-0.68085;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19898837 rs885987 A G 100 PASS AC=116;AF=0.751198;AN=214;NS=2504;DP=17208;EAS_AF=0.9157;AMR_AF=0.7205;AFR_AF=0.7814;EUR_AF=0.5646;SAS_AF=0.7546;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.751198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs885987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5632;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6587;AF_popmax=0.9339;AF_male=0.6603;AF_female=0.6567;AF_raw=0.6583;AF_afr=0.7811;AF_sas=.;AF_amr=0.7465;AF_eas=0.9339;AF_nfe=0.5672;AF_fin=0.6268;AF_asj=0.6621;AF_oth=0.6118;non_topmed_AF_popmax=0.9329;non_neuro_AF_popmax=0.9339;non_cancer_AF_popmax=.;controls_AF_popmax=0.9378;Kaviar_AF=0.124701;Kaviar_AC=19279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19898886 rs9606176 C T 100 PASS AC=18;AF=0.171526;AN=214;NS=2504;DP=18445;EAS_AF=0.2391;AMR_AF=0.1772;AFR_AF=0.1672;EUR_AF=0.1093;SAS_AF=0.1677;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.171526;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9606176;CLNALLELEID=378693;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0903;ExAC_nontcga_ALL=0.1325;ExAC_nontcga_AFR=0.1461;ExAC_nontcga_AMR=0.2201;ExAC_nontcga_EAS=0.2241;ExAC_nontcga_FIN=0.1542;ExAC_nontcga_NFE=0.0892;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.1571;AF=0.1347;AF_popmax=0.2216;AF_male=0.1378;AF_female=0.1307;AF_raw=0.1347;AF_afr=0.1509;AF_sas=.;AF_amr=0.1863;AF_eas=0.2216;AF_nfe=0.1066;AF_fin=0.1665;AF_asj=0.1207;AF_oth=0.1402;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2216;non_cancer_AF_popmax=.;controls_AF_popmax=0.2050;Kaviar_AF=0.125839;Kaviar_AC=19455;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19898887 rs45550336 G A 100 PASS AC=1;AF=0.048123;AN=214;NS=2504;DP=18406;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.0613;EUR_AF=0.0229;SAS_AF=0.0951;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.048123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45550336;CLNALLELEID=378615;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0214;ExAC_nontcga_ALL=0.0360;ExAC_nontcga_AFR=0.0571;ExAC_nontcga_AMR=0.0461;ExAC_nontcga_EAS=0.0396;ExAC_nontcga_FIN=0.0120;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0828;AF=0.0296;AF_popmax=0.0543;AF_male=0.0300;AF_female=0.0291;AF_raw=0.0297;AF_afr=0.0543;AF_sas=.;AF_amr=0.0236;AF_eas=0.0328;AF_nfe=0.0193;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0541;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0577;Kaviar_AF=0.0331432;Kaviar_AC=5124;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.032197::-0.68085;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19899061 rs16982754 G C 100 PASS AC=1;AF=0.0483227;AN=214;NS=2504;DP=19512;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.062;EUR_AF=0.0229;SAS_AF=0.0951;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0483227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16982754;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0295;AF_popmax=0.0541;AF_male=0.0300;AF_female=0.0290;AF_raw=0.0297;AF_afr=0.0541;AF_sas=.;AF_amr=0.0236;AF_eas=0.0340;AF_nfe=0.0191;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0539;non_neuro_AF_popmax=0.0567;non_cancer_AF_popmax=.;controls_AF_popmax=0.0576;Kaviar_AF=0.0058731;Kaviar_AC=908;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0323194::-0.679141;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19902671 rs16982755 C T 100 PASS AC=8;AF=0.0585064;AN=214;NS=2504;DP=19364;EAS_AF=0.0208;AMR_AF=0.0562;AFR_AF=0.062;EUR_AF=0.0517;SAS_AF=0.1012;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0585064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16982755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0525;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0436;AF_popmax=0.0581;AF_male=0.0448;AF_female=0.0420;AF_raw=0.0437;AF_afr=0.0581;AF_sas=.;AF_amr=0.0295;AF_eas=0.0340;AF_nfe=0.0422;AF_fin=0.0187;AF_asj=0.0552;AF_oth=0.0478;non_topmed_AF_popmax=0.0581;non_neuro_AF_popmax=0.0597;non_cancer_AF_popmax=.;controls_AF_popmax=0.0615;Kaviar_AF=0.0100063;Kaviar_AC=1547;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0738636::-0.583003;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19902896 rs2073771 C T 100 PASS AC=76;AF=0.507987;AN=214;NS=2504;DP=17202;EAS_AF=0.8829;AMR_AF=0.5432;AFR_AF=0.3222;EUR_AF=0.3559;SAS_AF=0.5041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.507987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2073771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4064;AF_popmax=0.8900;AF_male=0.4077;AF_female=0.4047;AF_raw=0.4061;AF_afr=0.3167;AF_sas=.;AF_amr=0.6147;AF_eas=0.8900;AF_nfe=0.3788;AF_fin=0.4801;AF_asj=0.4545;AF_oth=0.4107;non_topmed_AF_popmax=0.8885;non_neuro_AF_popmax=0.8900;non_cancer_AF_popmax=.;controls_AF_popmax=0.8904;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 +22 19905802 rs756661 G A 100 PASS AC=114;AF=0.7498;AN=214;NS=2504;DP=24028;EAS_AF=0.9177;AMR_AF=0.7205;AFR_AF=0.7799;EUR_AF=0.5596;SAS_AF=0.7526;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.7498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs756661;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5597;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6569;AF_popmax=0.9337;AF_male=0.6587;AF_female=0.6547;AF_raw=0.6564;AF_afr=0.7803;AF_sas=.;AF_amr=0.7411;AF_eas=0.9337;AF_nfe=0.5647;AF_fin=0.6269;AF_asj=0.6552;AF_oth=0.6105;non_topmed_AF_popmax=0.9327;non_neuro_AF_popmax=0.9337;non_cancer_AF_popmax=.;controls_AF_popmax=0.9376;Kaviar_AF=0.119746;Kaviar_AC=18513;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19906367 rs141500917 G T 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=16236;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141500917;CLNALLELEID=507501;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0073;AF=9.592e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.001119;Kaviar_AC=173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19906370 rs9606178 G A 100 PASS AC=7;AF=0.0297524;AN=214;NS=2504;DP=16094;EAS_AF=0.002;AMR_AF=0.0461;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0859;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0297524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9606178;CLNALLELEID=379819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0297;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0458;ExAC_nontcga_EAS=0.0115;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0245;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0790;AF=0.0161;AF_popmax=0.0232;AF_male=0.0176;AF_female=0.0142;AF_raw=0.0161;AF_afr=0.0061;AF_sas=.;AF_amr=0.0224;AF_eas=0.0122;AF_nfe=0.0232;AF_fin=0.0066;AF_asj=0.0241;AF_oth=0.0248;non_topmed_AF_popmax=0.0222;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0298573;Kaviar_AC=4616;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19906511 rs11541479 G A 100 PASS AC=30;AF=0.168131;AN=214;NS=2504;DP=14454;EAS_AF=0.0129;AMR_AF=0.1167;AFR_AF=0.3661;EUR_AF=0.1531;SAS_AF=0.1125;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;1000g2015aug_all=0.168131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11541479;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1476;ExAC_nontcga_ALL=0.1437;ExAC_nontcga_AFR=0.3773;ExAC_nontcga_AMR=0.0835;ExAC_nontcga_EAS=0.0119;ExAC_nontcga_FIN=0.1250;ExAC_nontcga_NFE=0.1502;ExAC_nontcga_OTH=0.1572;ExAC_nontcga_SAS=0.1154;AF=0.1983;AF_popmax=0.3758;AF_male=0.1955;AF_female=0.2019;AF_raw=0.1982;AF_afr=0.3758;AF_sas=.;AF_amr=0.0946;AF_eas=0.0097;AF_nfe=0.1440;AF_fin=0.1258;AF_asj=0.1448;AF_oth=0.1493;non_topmed_AF_popmax=0.3750;non_neuro_AF_popmax=0.3807;non_cancer_AF_popmax=.;controls_AF_popmax=0.3817;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.153409::-0.448377;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.105989;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19907099 rs5748469 C A 100 PASS AC=76;AF=0.483027;AN=214;NS=2504;DP=19907;EAS_AF=0.869;AMR_AF=0.5346;AFR_AF=0.2171;EUR_AF=0.3549;SAS_AF=0.5399;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;1000g2015aug_all=0.483027;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748469;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.019;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=P;MutationAssessor_score=4.075;MutationAssessor_score_rankscore=0.972;MutationAssessor_pred=H;FATHMM_score=0.26;FATHMM_converted_rankscore=0.593;FATHMM_pred=T;PROVEAN_score=-2.1;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.238;MetaSVM_score=-0.955;MetaSVM_rankscore=0.400;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.388;REVEL_rankscore=0.708;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.178;CADD_raw_rankscore=0.852;CADD_phred=28.6;DANN_score=0.996;DANN_rankscore=0.761;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.664;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.771;Eigen-PC-raw=0.621;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.428;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.96;GERP++_RS_rankscore=0.449;phyloP100way_vertebrate=2.820;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=15.975;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3312;ExAC_nontcga_ALL=0.4530;ExAC_nontcga_AFR=0.2670;ExAC_nontcga_AMR=0.5776;ExAC_nontcga_EAS=0.7922;ExAC_nontcga_FIN=0.4653;ExAC_nontcga_NFE=0.4121;ExAC_nontcga_OTH=0.4877;ExAC_nontcga_SAS=0.4973;AF=0.3822;AF_popmax=0.8735;AF_male=0.3830;AF_female=0.3812;AF_raw=0.3832;AF_afr=0.2394;AF_sas=.;AF_amr=0.6031;AF_eas=0.8735;AF_nfe=0.3760;AF_fin=0.4795;AF_asj=0.4517;AF_oth=0.4068;non_topmed_AF_popmax=0.8723;non_neuro_AF_popmax=0.8735;non_cancer_AF_popmax=.;controls_AF_popmax=0.8733;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.222680;ALLELE_END GT 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 1|0 +22 19907118 rs5748470 G A 100 PASS AC=105;AF=0.596845;AN=214;NS=2504;DP=20192;EAS_AF=0.881;AMR_AF=0.6297;AFR_AF=0.3918;EUR_AF=0.506;SAS_AF=0.6513;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;1000g2015aug_all=0.596845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748470;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4793;ExAC_nontcga_ALL=0.5704;ExAC_nontcga_AFR=0.4333;ExAC_nontcga_AMR=0.6257;ExAC_nontcga_EAS=0.8033;ExAC_nontcga_FIN=0.5712;ExAC_nontcga_NFE=0.5443;ExAC_nontcga_OTH=0.6337;ExAC_nontcga_SAS=0.6158;AF=0.5231;AF_popmax=0.8830;AF_male=0.5199;AF_female=0.5270;AF_raw=0.5234;AF_afr=0.4120;AF_sas=.;AF_amr=0.6865;AF_eas=0.8830;AF_nfe=0.5194;AF_fin=0.6058;AF_asj=0.5966;AF_oth=0.5398;non_topmed_AF_popmax=0.882;non_neuro_AF_popmax=0.8830;non_cancer_AF_popmax=.;controls_AF_popmax=0.8833;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944319|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.062314;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19907192 rs5748471 A G 100 PASS AC=113;AF=0.754393;AN=214;NS=2504;DP=19331;EAS_AF=0.9177;AMR_AF=0.7205;AFR_AF=0.798;EUR_AF=0.5586;SAS_AF=0.7526;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5575;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6623;AF_popmax=0.9348;AF_male=0.6642;AF_female=0.6601;AF_raw=0.6616;AF_afr=0.7987;AF_sas=.;AF_amr=0.7453;AF_eas=0.9348;AF_nfe=0.5652;AF_fin=0.6251;AF_asj=0.6528;AF_oth=0.6125;non_topmed_AF_popmax=0.9339;non_neuro_AF_popmax=0.9348;non_cancer_AF_popmax=.;controls_AF_popmax=0.9396;Kaviar_AF=0.106415;Kaviar_AC=16452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944319|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19918723 rs79960807 G A 100 PASS AC=10;AF=0.0107827;AN=214;NS=2504;DP=19965;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0015;EUR_AF=0.0368;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79960807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0190;AF_popmax=0.0288;AF_male=0.0187;AF_female=0.0193;AF_raw=0.0190;AF_afr=0.0044;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0288;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0268;non_topmed_AF_popmax=0.0299;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1272801|N/A|SMARCA4|PAZAR,OREG1513434|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 39224112 rs8192671 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon19:c.A3032G:p.N1011S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192671;CLNALLELEID=49186;CLNDN=Noonan_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.6;MutationAssessor_score_rankscore=0.156;MutationAssessor_pred=N;FATHMM_score=1.55;FATHMM_converted_rankscore=0.299;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.101;MetaSVM_score=-1.118;MetaSVM_rankscore=0.025;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.216;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.136;M-CAP_pred=T;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.576;CADD_raw_rankscore=0.251;CADD_phred=13.72;DANN_score=0.997;DANN_rankscore=0.789;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.735;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.065;Eigen-PC-raw=0.123;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.42;GERP++_RS_rankscore=0.786;phyloP100way_vertebrate=5.799;phyloP100way_vertebrate_rankscore=0.685;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.464;SiPhy_29way_logOdds_rankscore=0.750;Interpro_domain=Ras_guanine_nucleotide_exchange_factor_domain|Ras_guanine-nucleotide_exchange_factors_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0026;AF_popmax=0.0040;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0017852;Kaviar_AC=276;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.676631;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39224351 rs1454223 G T 100 PASS AC=199;AF=0.90016;AN=214;NS=2504;DP=15333;EAS_AF=0.8393;AMR_AF=0.9452;AFR_AF=0.9546;EUR_AF=0.9364;SAS_AF=0.82;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.90016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1454223;CLNALLELEID=250731;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9369;ExAC_nontcga_ALL=0.9171;ExAC_nontcga_AFR=0.9634;ExAC_nontcga_AMR=0.9580;ExAC_nontcga_EAS=0.8234;ExAC_nontcga_FIN=0.9671;ExAC_nontcga_NFE=0.9336;ExAC_nontcga_OTH=0.9145;ExAC_nontcga_SAS=0.8352;AF=0.9438;AF_popmax=0.9639;AF_male=0.9434;AF_female=0.9443;AF_raw=0.9437;AF_afr=0.9639;AF_sas=.;AF_amr=0.9528;AF_eas=0.8146;AF_nfe=0.9399;AF_fin=0.9718;AF_asj=0.9034;AF_oth=0.9366;non_topmed_AF_popmax=0.9638;non_neuro_AF_popmax=0.9651;non_cancer_AF_popmax=.;controls_AF_popmax=0.9638;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39224614 rs540132304 A G 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=14646;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0123;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540132304;CLNALLELEID=250732;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0189;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0395;ExAC_nontcga_OTH=0.0614;ExAC_nontcga_SAS=0.0297;AF=0.0081;AF_popmax=0.0304;AF_male=0.0086;AF_female=0.0073;AF_raw=0.0037;AF_afr=0.0004;AF_sas=.;AF_amr=0.0088;AF_eas=0;AF_nfe=0.0304;AF_fin=0.0102;AF_asj=0.0167;AF_oth=0.0213;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0311;non_cancer_AF_popmax=.;controls_AF_popmax=0.0425;Kaviar_AF=0.0034152;Kaviar_AC=528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.538457;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39224615 rs5830551 G GT 100 PASS AC=199;AF=0.787939;AN=214;NS=2504;DP=14597;EAS_AF=0.8244;AMR_AF=0.8934;AFR_AF=0.5703;EUR_AF=0.9354;SAS_AF=0.818;AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.787939;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869215095;CLNALLELEID=250733;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9326;ExAC_nontcga_ALL=0.8836;ExAC_nontcga_AFR=0.6080;ExAC_nontcga_AMR=0.9420;ExAC_nontcga_EAS=0.8166;ExAC_nontcga_FIN=0.9655;ExAC_nontcga_NFE=0.9317;ExAC_nontcga_OTH=0.9021;ExAC_nontcga_SAS=0.8326;AF=0.8431;AF_popmax=0.9396;AF_male=0.8394;AF_female=0.8478;AF_raw=0.8424;AF_afr=0.6090;AF_sas=.;AF_amr=0.9308;AF_eas=0.8077;AF_nfe=0.9396;AF_fin=0.9715;AF_asj=0.8993;AF_oth=0.9054;non_topmed_AF_popmax=0.9403;non_neuro_AF_popmax=0.9403;non_cancer_AF_popmax=.;controls_AF_popmax=0.9472;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.538457;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39233500 rs7577088 G A 100 PASS AC=199;AF=0.905152;AN=214;NS=2504;DP=15529;EAS_AF=0.8403;AMR_AF=0.9452;AFR_AF=0.9766;EUR_AF=0.9334;SAS_AF=0.818;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.905152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7577088;CLNALLELEID=178349;CLNDN=Noonan_syndrome;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9461;AF_popmax=0.9747;AF_male=0.9456;AF_female=0.9469;AF_raw=0.9460;AF_afr=0.9747;AF_sas=.;AF_amr=0.9538;AF_eas=0.8153;AF_nfe=0.9387;AF_fin=0.9715;AF_asj=0.9;AF_oth=0.9357;non_topmed_AF_popmax=0.9746;non_neuro_AF_popmax=0.9743;non_cancer_AF_popmax=.;controls_AF_popmax=0.9740;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.945279;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39239386 rs201235910 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12607;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon14:c.A2271C:p.S757S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201235910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715627;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39240758 rs560278306 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18307;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560278306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.932330;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39241107 rs56219475 G A 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=14941;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon12:c.C1964T:p.P655L;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56219475;CLNALLELEID=49162;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.306;SIFT_converted_rankscore=0.142;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.065;Polyphen2_HVAR_rankscore=0.259;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.433;PROVEAN_pred=N;VEST3_score=0.352;VEST3_rankscore=0.413;MetaSVM_score=-1.067;MetaSVM_rankscore=0.101;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.282;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.091;REVEL_rankscore=0.269;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.732;CADD_raw_rankscore=0.269;CADD_phred=14.59;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_rankscore=0.597;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.026;Eigen-PC-raw=0.213;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=5.443;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.088;SiPhy_29way_logOdds_rankscore=0.978;Interpro_domain=Ras_guanine_nucleotide_exchange_factor_domain|Ras-like_guanine_nucleotide_exchange_factor,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0116;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0009;AF=0.0086;AF_popmax=0.0107;AF_male=0.0091;AF_female=0.0080;AF_raw=0.0086;AF_afr=0.0039;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0158;AF_asj=0.0035;AF_oth=0.0120;non_topmed_AF_popmax=0.0109;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731899;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39249896 rs201624023 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18264;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon10:c.T1673C:p.M558T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201624023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.572;Polyphen2_HDIV_rankscore=0.367;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.37;Polyphen2_HVAR_rankscore=0.418;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.41;MutationAssessor_score_rankscore=0.124;MutationAssessor_pred=N;FATHMM_score=-2.26;FATHMM_converted_rankscore=0.874;FATHMM_pred=D;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.369;VEST3_rankscore=0.439;MetaSVM_score=0.222;MetaSVM_rankscore=0.863;MetaSVM_pred=D;MetaLR_score=0.585;MetaLR_rankscore=0.851;MetaLR_pred=D;M-CAP_score=0.093;M-CAP_rankscore=0.762;M-CAP_pred=D;REVEL_score=0.493;REVEL_rankscore=0.782;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.765;CADD_raw_rankscore=0.393;CADD_phred=21.2;DANN_score=0.989;DANN_rankscore=0.480;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.326;Eigen-PC-raw=0.455;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=7.385;phyloP100way_vertebrate_rankscore=0.789;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.103;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=PH_domain-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.762476;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39250386 rs112906251 A G 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=18788;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0129;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112906251;CLNALLELEID=142938;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0089;ExAC_nontcga_AMR=0.0163;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0179;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.0020;AF=0.0104;AF_popmax=0.0201;AF_male=0.0105;AF_female=0.0101;AF_raw=0.0104;AF_afr=0.0115;AF_sas=.;AF_amr=0.0201;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0164;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0198;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0091396;Kaviar_AC=1413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.552488;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39262348 rs145155424 C G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=13915;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145155424;CLNALLELEID=54510;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.2881;dbscSNV_RF_SCORE=0.442;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0075;ExAC_nontcga_NFE=0.0170;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0002;AF=0.0097;AF_popmax=0.0153;AF_male=0.0087;AF_female=0.0109;AF_raw=0.0097;AF_afr=0.0016;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0153;AF_fin=0.0084;AF_asj=0.0069;AF_oth=0.0175;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0158;non_cancer_AF_popmax=.;controls_AF_popmax=0.0253;Kaviar_AF=0.0076519;Kaviar_AC=1183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329274;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39278394 rs142094234 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17309;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon6:c.T755C:p.I252T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142094234;CLNALLELEID=486897;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.674;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.749;Polyphen2_HVAR_rankscore=0.542;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.695;MutationAssessor_score_rankscore=0.791;MutationAssessor_pred=M;FATHMM_score=-3.8;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-4.24;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.929;VEST3_rankscore=0.946;MetaSVM_score=1.027;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.910;MetaLR_rankscore=0.970;MetaLR_pred=D;M-CAP_score=0.387;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.935;REVEL_rankscore=0.986;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.873;CADD_raw_rankscore=0.805;CADD_phred=27.4;DANN_score=0.998;DANN_rankscore=0.909;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.910;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.699;Eigen-PC-raw=0.723;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.541;SiPhy_29way_logOdds_rankscore=0.757;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.479e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=9.205e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712627;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39278497 rs191328262 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15618;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191328262;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.176011;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39281730 rs997344 G C 100 PASS AC=199;AF=0.891374;AN=214;NS=2504;DP=16872;EAS_AF=0.8393;AMR_AF=0.9107;AFR_AF=0.975;EUR_AF=0.9056;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.891374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs997344;CLNALLELEID=178351;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9209;ExAC_nontcga_ALL=0.8991;ExAC_nontcga_AFR=0.9739;ExAC_nontcga_AMR=0.9360;ExAC_nontcga_EAS=0.8292;ExAC_nontcga_FIN=0.9051;ExAC_nontcga_NFE=0.9118;ExAC_nontcga_OTH=0.8830;ExAC_nontcga_SAS=0.8245;AF=0.9279;AF_popmax=0.9721;AF_male=0.9280;AF_female=0.9276;AF_raw=0.9278;AF_afr=0.9721;AF_sas=.;AF_amr=0.9208;AF_eas=0.8190;AF_nfe=0.9190;AF_fin=0.9171;AF_asj=0.8897;AF_oth=0.9053;non_topmed_AF_popmax=0.9722;non_neuro_AF_popmax=0.9711;non_cancer_AF_popmax=.;controls_AF_popmax=0.9709;Kaviar_AF=0.882977;Kaviar_AC=136510;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39281905 rs55980502 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=16514;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon5:c.C570T:p.D190D;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980502;CLNALLELEID=49125;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0028;AF_popmax=0.0034;AF_male=0.0027;AF_female=0.0030;AF_raw=0.0028;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0072;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0022703;Kaviar_AC=351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.645939;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39283784 rs180918477 G C 100 PASS AC=4;AF=0.00658946;AN=214;NS=2504;DP=14779;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0099;SAS_AF=0.0194;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs180918477;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0114;AF_popmax=0.0189;AF_male=0.0105;AF_female=0.0126;AF_raw=0.0114;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0189;AF_fin=0.0090;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0208;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0259;Kaviar_AF=0.0023674;Kaviar_AC=366;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.839047;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +2 39285762 rs41280639 G C 100 PASS AC=6;AF=0.0515176;AN=214;NS=2504;DP=15283;EAS_AF=0.0278;AMR_AF=0.0548;AFR_AF=0.1316;EUR_AF=0.0129;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0515176;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41280639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0429;AF_popmax=0.1237;AF_male=0.0456;AF_female=0.0396;AF_raw=0.0431;AF_afr=0.1237;AF_sas=.;AF_amr=0.0213;AF_eas=0.0135;AF_nfe=0.0116;AF_fin=0.0058;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.1233;non_neuro_AF_popmax=0.1274;non_cancer_AF_popmax=.;controls_AF_popmax=0.1249;Kaviar_AF=0.0041849;Kaviar_AC=647;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247580|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.281481;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39347388 rs56263073 GC G 100 PASS AC=12;AF=0.0135783;AN=214;NS=2504;DP=8075;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0268;SAS_AF=0.0286;AA=CCC|CCC|CC|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56263073;CLNALLELEID=552541;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0137;AF_popmax=0.0221;AF_male=0.0139;AF_female=0.0135;AF_raw=0.0139;AF_afr=0.0030;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0221;AF_fin=0.0066;AF_asj=0.0104;AF_oth=0.0250;non_topmed_AF_popmax=0.0217;non_neuro_AF_popmax=0.0222;non_cancer_AF_popmax=.;controls_AF_popmax=0.0197;Kaviar_AF=0.0028431;Kaviar_AC=74;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000115638|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1165803|N/A|TFAP2C|PAZAR,OREG1247587|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.690461;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 47389342 rs3729954 A C 100 PASS AC=20;AF=0.205072;AN=214;NS=2504;DP=20191;EAS_AF=0.0337;AMR_AF=0.1744;AFR_AF=0.4312;EUR_AF=0.0706;SAS_AF=0.2362;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.205072;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729954;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1516;AF_popmax=0.3685;AF_male=0.1543;AF_female=0.1482;AF_raw=0.1357;AF_afr=0.3685;AF_sas=.;AF_amr=0.1794;AF_eas=0.0146;AF_nfe=0.0744;AF_fin=0.0330;AF_asj=0.0543;AF_oth=0.1037;non_topmed_AF_popmax=0.3676;non_neuro_AF_popmax=0.3731;non_cancer_AF_popmax=.;controls_AF_popmax=0.3656;Kaviar_AF=0.0157372;Kaviar_AC=2433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 +2 47389467 rs141298844 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=17968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM2:NM_001305626:exon3:c.C135T:p.D45D,CALM2:NM_001305625:exon4:c.C135T:p.D45D,CALM2:NM_001743:exon4:c.C243T:p.D81D,CALM2:NM_001305624:exon5:c.C387T:p.D129D;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141298844;CLNALLELEID=238773;CLNDN=Long_QT_syndrome_1|not_specified;CLNDISDB=MedGen:C4551647,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.064076;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 47389842 rs114530537 T C 100 PASS AC=2;AF=0.00559105;AN=214;NS=2504;DP=18161;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0189;EUR_AF=0.002;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114530537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0299;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0003;AF=0.0071;AF_popmax=0.0248;AF_male=0.0080;AF_female=0.0060;AF_raw=0.0071;AF_afr=0.0248;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0249;non_neuro_AF_popmax=0.0213;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 105977761 rs11124029 G A 100 PASS AC=40;AF=0.111422;AN=214;NS=2504;DP=20874;EAS_AF=0.0258;AMR_AF=0.1614;AFR_AF=0.0809;EUR_AF=0.1988;SAS_AF=0.1155;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon5:c.C477T:p.P159P,FHL2:NM_001318894:exon6:c.C819T:p.P273P,FHL2:NM_001318896:exon6:c.C819T:p.P273P,FHL2:NM_001318898:exon6:c.C477T:p.P159P,FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_001318895:exon7:c.C819T:p.P273P,FHL2:NM_001318899:exon8:c.C495T:p.P165P,FHL2:NM_201555:exon8:c.C819T:p.P273P;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11124029;CLNALLELEID=57494;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1959;ExAC_nontcga_ALL=0.1551;ExAC_nontcga_AFR=0.0986;ExAC_nontcga_AMR=0.0802;ExAC_nontcga_EAS=0.0247;ExAC_nontcga_FIN=0.2430;ExAC_nontcga_NFE=0.1949;ExAC_nontcga_OTH=0.1787;ExAC_nontcga_SAS=0.1315;AF=0.1624;AF_popmax=0.1926;AF_male=0.1573;AF_female=0.1688;AF_raw=0.1625;AF_afr=0.1049;AF_sas=.;AF_amr=0.1050;AF_eas=0.0237;AF_nfe=0.1926;AF_fin=0.2396;AF_asj=0.2414;AF_oth=0.1710;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1923;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.157094;Kaviar_AC=24287;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.130399;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 +2 105977776 rs3087523 G A 100 PASS AC=25;AF=0.0517173;AN=214;NS=2504;DP=20376;EAS_AF=0.0238;AMR_AF=0.1066;AFR_AF=0.0068;EUR_AF=0.1103;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon5:c.C462T:p.D154D,FHL2:NM_001318894:exon6:c.C804T:p.D268D,FHL2:NM_001318896:exon6:c.C804T:p.D268D,FHL2:NM_001318898:exon6:c.C462T:p.D154D,FHL2:NM_001450:exon6:c.C804T:p.D268D,FHL2:NM_201557:exon6:c.C804T:p.D268D,FHL2:NM_001039492:exon7:c.C804T:p.D268D,FHL2:NM_001318895:exon7:c.C804T:p.D268D,FHL2:NM_001318899:exon8:c.C480T:p.D160D,FHL2:NM_201555:exon8:c.C804T:p.D268D;1000g2015aug_all=0.0517173;GWAS=rs3087523|Body-mass-index||1E-8|PMID:30595370;ORegAnno_REGULATORY_P=rs3087523|Body-mass-index||1E-8|PMID:30595370;avsnp150=rs3087523;CLNALLELEID=57493;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1270;ExAC_nontcga_ALL=0.0895;ExAC_nontcga_AFR=0.0211;ExAC_nontcga_AMR=0.0968;ExAC_nontcga_EAS=0.0287;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1187;ExAC_nontcga_OTH=0.0937;ExAC_nontcga_SAS=0.0540;AF=0.0861;AF_popmax=0.1181;AF_male=0.0833;AF_female=0.0896;AF_raw=0.0861;AF_afr=0.0274;AF_sas=.;AF_amr=0.1028;AF_eas=0.0244;AF_nfe=0.1181;AF_fin=0.1113;AF_asj=0.0862;AF_oth=0.0976;non_topmed_AF_popmax=0.1168;non_neuro_AF_popmax=0.1167;non_cancer_AF_popmax=.;controls_AF_popmax=0.1034;Kaviar_AF=0.0922368;Kaviar_AC=14260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.218007;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 105977903 rs2244182 G C 100 PASS AC=25;AF=0.305511;AN=214;NS=2504;DP=21056;EAS_AF=0.5367;AMR_AF=0.2334;AFR_AF=0.3548;EUR_AF=0.1362;SAS_AF=0.226;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244182;CLNALLELEID=57491;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.062;esp6500siv2_ea=0.1364;ExAC_nontcga_ALL=0.2112;ExAC_nontcga_AFR=0.3458;ExAC_nontcga_AMR=0.3112;ExAC_nontcga_EAS=0.5592;ExAC_nontcga_FIN=0.1355;ExAC_nontcga_NFE=0.1299;ExAC_nontcga_OTH=0.2064;ExAC_nontcga_SAS=0.2010;AF=0.2181;AF_popmax=0.5663;AF_male=0.2229;AF_female=0.2119;AF_raw=0.2183;AF_afr=0.3284;AF_sas=.;AF_amr=0.2541;AF_eas=0.5663;AF_nfe=0.1415;AF_fin=0.1416;AF_asj=0.0966;AF_oth=0.1728;non_topmed_AF_popmax=0.5640;non_neuro_AF_popmax=0.5663;non_cancer_AF_popmax=.;controls_AF_popmax=0.5613;Kaviar_AF=0.200567;Kaviar_AC=31008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 105979730 rs2278502 C A 100 PASS AC=81;AF=0.277356;AN=214;NS=2504;DP=21239;EAS_AF=0.2173;AMR_AF=0.3285;AFR_AF=0.1415;EUR_AF=0.3867;SAS_AF=0.3742;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278502;CLNALLELEID=57489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3766;ExAC_nontcga_ALL=0.3325;ExAC_nontcga_AFR=0.1759;ExAC_nontcga_AMR=0.2403;ExAC_nontcga_EAS=0.1870;ExAC_nontcga_FIN=0.3824;ExAC_nontcga_NFE=0.3791;ExAC_nontcga_OTH=0.3149;ExAC_nontcga_SAS=0.3786;AF=0.3134;AF_popmax=0.3797;AF_male=0.3097;AF_female=0.3179;AF_raw=0.3132;AF_afr=0.1883;AF_sas=.;AF_amr=0.3054;AF_eas=0.1955;AF_nfe=0.3797;AF_fin=0.3720;AF_asj=0.3414;AF_oth=0.3554;non_topmed_AF_popmax=0.3790;non_neuro_AF_popmax=0.3814;non_cancer_AF_popmax=.;controls_AF_popmax=0.3734;Kaviar_AF=0.333443;Kaviar_AC=51551;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.365019::-0.255045;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|0 0|1 0|0 1|1 1|0 1|0 0|1 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|1 +2 105979752 rs137869171 G A 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=21494;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon4:c.C336T:p.N112N,FHL2:NM_001318894:exon5:c.C678T:p.N226N,FHL2:NM_001318896:exon5:c.C678T:p.N226N,FHL2:NM_001318898:exon5:c.C336T:p.N112N,FHL2:NM_001450:exon5:c.C678T:p.N226N,FHL2:NM_201557:exon5:c.C678T:p.N226N,FHL2:NM_001039492:exon6:c.C678T:p.N226N,FHL2:NM_001318895:exon6:c.C678T:p.N226N,FHL2:NM_001318899:exon7:c.C354T:p.N118N,FHL2:NM_201555:exon7:c.C678T:p.N226N;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137869171;CLNALLELEID=57488;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=6.148e-05;AF=0.0075;AF_popmax=0.0142;AF_male=0.0073;AF_female=0.0078;AF_raw=0.0075;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0095;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0062289;Kaviar_AC=963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.803674;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 105979986 rs142473444 C T 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=20452;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142473444;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0071;AF_male=0.0032;AF_female=0.0033;AF_raw=0.0033;AF_afr=0.0005;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0023;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0050715;Kaviar_AC=132;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179391754 rs377439315 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19822;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.T80766C:p.H26922H,TTN:NM_133432:exon192:c.T81141C:p.H27047H,TTN:NM_133437:exon192:c.T81342C:p.H27114H,TTN:NM_133378:exon312:c.T100257C:p.H33419H,TTN:NM_001256850:exon313:c.T103038C:p.H34346H,TTN:NM_001267550:exon363:c.T107961C:p.H35987H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377439315;CLNALLELEID=172800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=9.878e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.150907;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179392015 rs55832587 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=22026;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.A80505G:p.E26835E,TTN:NM_133432:exon192:c.A80880G:p.E26960E,TTN:NM_133437:exon192:c.A81081G:p.E27027E,TTN:NM_133378:exon312:c.A99996G:p.E33332E,TTN:NM_001256850:exon313:c.A102777G:p.E34259E,TTN:NM_001267550:exon363:c.A107700G:p.E35900E;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55832587;CLNALLELEID=56887;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0245;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.415750;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179392080 rs16866373 A T 100 PASS AC=26;AF=0.209065;AN=214;NS=2504;DP=22400;EAS_AF=0.4504;AMR_AF=0.1484;AFR_AF=0.0673;EUR_AF=0.1392;SAS_AF=0.2669;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209065;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866373;CLNALLELEID=250408;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1461;ExAC_nontcga_ALL=0.1797;ExAC_nontcga_AFR=0.0687;ExAC_nontcga_AMR=0.1530;ExAC_nontcga_EAS=0.4368;ExAC_nontcga_FIN=0.1485;ExAC_nontcga_NFE=0.1492;ExAC_nontcga_OTH=0.1769;ExAC_nontcga_SAS=0.2662;AF=0.1451;AF_popmax=0.44;AF_male=0.1459;AF_female=0.1441;AF_raw=0.1453;AF_afr=0.0740;AF_sas=.;AF_amr=0.1604;AF_eas=0.44;AF_nfe=0.1529;AF_fin=0.1488;AF_asj=0.1076;AF_oth=0.1713;non_topmed_AF_popmax=0.4392;non_neuro_AF_popmax=0.44;non_cancer_AF_popmax=.;controls_AF_popmax=0.4275;Kaviar_AF=0.163336;Kaviar_AC=25252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179392277 rs72629793 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=23166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72629793;CLNALLELEID=56884;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.821;MutationTaster_converted_rankscore=0.358;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=D;VEST3_score=0.419;VEST3_rankscore=0.828;MetaSVM_score=-0.889;MetaSVM_rankscore=0.490;MetaSVM_pred=T;MetaLR_score=0.141;MetaLR_rankscore=0.461;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.541;CADD_raw_rankscore=0.247;CADD_phred=13.53;DANN_score=0.835;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.274;Eigen-PC-raw=-0.063;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.62;GERP++_RS_rankscore=0.568;phyloP100way_vertebrate=5.583;phyloP100way_vertebrate_rankscore=0.670;phyloP20way_mammalian=0.162;phyloP20way_mammalian_rankscore=0.245;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.371;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0093;AF=0.0004;AF_popmax=0.0006;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0019987;Kaviar_AC=309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.851703;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393111 rs16866378 A G 100 PASS AC=15;AF=0.0920527;AN=214;NS=2504;DP=19459;EAS_AF=0.1736;AMR_AF=0.0403;AFR_AF=0.1354;EUR_AF=0.0318;SAS_AF=0.0481;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon189:c.T80072C:p.V26691A,TTN:NM_133432:exon190:c.T80447C:p.V26816A,TTN:NM_133437:exon190:c.T80648C:p.V26883A,TTN:NM_133378:exon310:c.T99563C:p.V33188A,TTN:NM_001256850:exon311:c.T102344C:p.V34115A,TTN:NM_001267550:exon361:c.T107267C:p.V35756A;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866378;CLNALLELEID=56882;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.127;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.08;MutationAssessor_score_rankscore=0.273;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.424;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.028;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.135;REVEL_rankscore=0.371;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.471;CADD_raw_rankscore=0.139;CADD_phred=7.207;DANN_score=0.642;DANN_rankscore=0.072;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_rankscore=0.274;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.656;Eigen-PC-raw=-0.677;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.423;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.24;GERP++_RS_rankscore=0.203;phyloP100way_vertebrate=4.262;phyloP100way_vertebrate_rankscore=0.584;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.249;phastCons100way_vertebrate_rankscore=0.246;phastCons20way_mammalian=0.904;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=9.842;SiPhy_29way_logOdds_rankscore=0.400;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0456;ExAC_nontcga_AFR=0.1276;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.1673;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0217;ExAC_nontcga_OTH=0.0422;ExAC_nontcga_SAS=0.0519;AF=0.0559;AF_popmax=0.1592;AF_male=0.0604;AF_female=0.0503;AF_raw=0.0561;AF_afr=0.1319;AF_sas=.;AF_amr=0.0425;AF_eas=0.1592;AF_nfe=0.0178;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0303;non_topmed_AF_popmax=0.1592;non_neuro_AF_popmax=0.1592;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0430007;Kaviar_AC=6648;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.461935;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179393691 rs55842557 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393840 rs56324602 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18690;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.G79443A:p.R26481R,TTN:NM_133432:exon189:c.G79818A:p.R26606R,TTN:NM_133437:exon189:c.G80019A:p.R26673R,TTN:NM_133378:exon309:c.G98934A:p.R32978R,TTN:NM_001256850:exon310:c.G101715A:p.R33905R,TTN:NM_001267550:exon360:c.G106638A:p.R35546R;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56324602;CLNALLELEID=56875;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0251;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.549799;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393859 rs55880440 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395067 rs56207956 C G 100 PASS AC=15;AF=0.0509185;AN=214;NS=2504;DP=16703;EAS_AF=0;AMR_AF=0.0692;AFR_AF=0.0726;EUR_AF=0.0875;SAS_AF=0.0235;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G79080C:p.G26360G,TTN:NM_133432:exon187:c.G79455C:p.G26485G,TTN:NM_133437:exon187:c.G79656C:p.G26552G,TTN:NM_133378:exon307:c.G98571C:p.G32857G,TTN:NM_001256850:exon308:c.G101352C:p.G33784G,TTN:NM_001267550:exon358:c.G106275C:p.G35425G;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56207956;CLNALLELEID=56868;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0874;ExAC_nontcga_ALL=0.0640;ExAC_nontcga_AFR=0.0716;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0750;ExAC_nontcga_NFE=0.0866;ExAC_nontcga_OTH=0.0594;ExAC_nontcga_SAS=0.0254;AF=0.0763;AF_popmax=0.0873;AF_male=0.0769;AF_female=0.0755;AF_raw=0.0763;AF_afr=0.0743;AF_sas=.;AF_amr=0.0578;AF_eas=0;AF_nfe=0.0873;AF_fin=0.0748;AF_asj=0.0517;AF_oth=0.0718;non_topmed_AF_popmax=0.0888;non_neuro_AF_popmax=0.0872;non_cancer_AF_popmax=.;controls_AF_popmax=0.0891;Kaviar_AF=0.0668685;Kaviar_AC=10338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.345107;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +2 179395554 rs66961115 G A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=17466;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78593T:p.A26198V,TTN:NM_133432:exon187:c.C78968T:p.A26323V,TTN:NM_133437:exon187:c.C79169T:p.A26390V,TTN:NM_133378:exon307:c.C98084T:p.A32695V,TTN:NM_001256850:exon308:c.C100865T:p.A33622V,TTN:NM_001267550:exon358:c.C105788T:p.A35263V;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66961115;CLNALLELEID=56866;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.259;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.931;MutationTaster_converted_rankscore=0.270;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_converted_rankscore=0.366;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.324;MetaSVM_score=-0.944;MetaSVM_rankscore=0.419;MetaSVM_pred=T;MetaLR_score=0.100;MetaLR_rankscore=0.373;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.704;CADD_raw_rankscore=0.386;CADD_phred=20.8;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.782;fathmm-MKL_coding_rankscore=0.382;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.281;Eigen-PC-raw=-0.121;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=1.519;phyloP100way_vertebrate_rankscore=0.353;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.608;phastCons100way_vertebrate_rankscore=0.276;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=13.425;SiPhy_29way_logOdds_rankscore=0.603;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0262;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0014;AF=0.0119;AF_popmax=0.0154;AF_male=0.0106;AF_female=0.0135;AF_raw=0.0119;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0256;AF_asj=0.0103;AF_oth=0.0120;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.010679;Kaviar_AC=1651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395555 rs67254537 C A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=17482;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78592T:p.A26198S,TTN:NM_133432:exon187:c.G78967T:p.A26323S,TTN:NM_133437:exon187:c.G79168T:p.A26390S,TTN:NM_133378:exon307:c.G98083T:p.A32695S,TTN:NM_001256850:exon308:c.G100864T:p.A33622S,TTN:NM_001267550:exon358:c.G105787T:p.A35263S;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67254537;CLNALLELEID=56865;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.204;SIFT_converted_rankscore=0.200;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.988;MutationTaster_converted_rankscore=0.244;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.272;MetaSVM_score=-0.981;MetaSVM_rankscore=0.348;MetaSVM_pred=T;MetaLR_score=0.091;MetaLR_rankscore=0.348;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.275;CADD_raw_rankscore=0.335;CADD_phred=18.00;DANN_score=0.958;DANN_rankscore=0.272;fathmm-MKL_coding_score=0.925;fathmm-MKL_coding_rankscore=0.556;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.410;Eigen-PC-raw=-0.264;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.67;GERP++_RS_rankscore=0.230;phyloP100way_vertebrate=1.447;phyloP100way_vertebrate_rankscore=0.345;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.664;phastCons100way_vertebrate_rankscore=0.281;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=8.588;SiPhy_29way_logOdds_rankscore=0.326;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0262;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0011;AF=0.0119;AF_popmax=0.0154;AF_male=0.0106;AF_female=0.0135;AF_raw=0.0119;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0256;AF_asj=0.0103;AF_oth=0.0120;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.0106467;Kaviar_AC=1646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395560 rs16866380 G A 100 PASS AC=15;AF=0.0792732;AN=214;NS=2504;DP=17438;EAS_AF=0.1716;AMR_AF=0.0403;AFR_AF=0.0885;EUR_AF=0.0318;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78587T:p.P26196L,TTN:NM_133432:exon187:c.C78962T:p.P26321L,TTN:NM_133437:exon187:c.C79163T:p.P26388L,TTN:NM_133378:exon307:c.C98078T:p.P32693L,TTN:NM_001256850:exon308:c.C100859T:p.P33620L,TTN:NM_001267550:exon358:c.C105782T:p.P35261L;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866380;CLNALLELEID=56864;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.382;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-0.38;FATHMM_converted_rankscore=0.690;FATHMM_pred=T;PROVEAN_score=-4.67;PROVEAN_converted_rankscore=0.795;PROVEAN_pred=D;VEST3_score=0.154;VEST3_rankscore=0.345;MetaSVM_score=-1.036;MetaSVM_rankscore=0.186;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.193;REVEL_rankscore=0.478;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.557;CADD_raw_rankscore=0.485;CADD_phred=23.1;DANN_score=0.900;DANN_rankscore=0.187;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.670;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.032;Eigen-PC-raw=0.157;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=5.593;phyloP100way_vertebrate_rankscore=0.670;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.911;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=18.287;SiPhy_29way_logOdds_rankscore=0.900;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0412;ExAC_nontcga_AFR=0.0761;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0.1669;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0517;AF=0.0403;AF_popmax=0.1594;AF_male=0.0432;AF_female=0.0367;AF_raw=0.0405;AF_afr=0.0768;AF_sas=.;AF_amr=0.0402;AF_eas=0.1594;AF_nfe=0.0177;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0248;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1594;non_cancer_AF_popmax=.;controls_AF_popmax=0.1616;Kaviar_AF=0.038376;Kaviar_AC=5933;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179395573 rs56324595 C T 100 PASS AC=7;AF=0.00658946;AN=214;NS=2504;DP=17611;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78574A:p.E26192K,TTN:NM_133432:exon187:c.G78949A:p.E26317K,TTN:NM_133437:exon187:c.G79150A:p.E26384K,TTN:NM_133378:exon307:c.G98065A:p.E32689K,TTN:NM_001256850:exon308:c.G100846A:p.E33616K,TTN:NM_001267550:exon358:c.G105769A:p.E35257K;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56324595;CLNALLELEID=56863;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.749;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-2.6;PROVEAN_converted_rankscore=0.559;PROVEAN_pred=D;VEST3_score=0.188;VEST3_rankscore=0.341;MetaSVM_score=-0.534;MetaSVM_rankscore=0.674;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_rankscore=0.472;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.312;REVEL_rankscore=0.638;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.028;CADD_raw_rankscore=0.541;CADD_phred=23.6;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.770;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.605;Eigen-PC-raw=0.613;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=18.287;SiPhy_29way_logOdds_rankscore=0.900;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0175;ExAC_nontcga_ALL=0.0140;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0210;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0034;AF=0.0139;AF_popmax=0.0186;AF_male=0.0131;AF_female=0.0148;AF_raw=0.0139;AF_afr=0.0035;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0186;AF_fin=0.0262;AF_asj=0.0138;AF_oth=0.0148;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0137062;Kaviar_AC=2119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.634310;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395760 rs3829749 G A 100 PASS AC=15;AF=0.091254;AN=214;NS=2504;DP=20743;EAS_AF=0.1726;AMR_AF=0.0403;AFR_AF=0.1331;EUR_AF=0.0318;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78387T:p.S26129S,TTN:NM_133432:exon187:c.C78762T:p.S26254S,TTN:NM_133437:exon187:c.C78963T:p.S26321S,TTN:NM_133378:exon307:c.C97878T:p.S32626S,TTN:NM_001256850:exon308:c.C100659T:p.S33553S,TTN:NM_001267550:exon358:c.C105582T:p.S35194S;1000g2015aug_all=0.091254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829749;CLNALLELEID=56858;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.1250;ExAC_nontcga_AMR=0.0310;ExAC_nontcga_EAS=0.1669;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0420;ExAC_nontcga_SAS=0.0516;AF=0.0549;AF_popmax=0.1585;AF_male=0.0591;AF_female=0.0497;AF_raw=0.0550;AF_afr=0.1282;AF_sas=.;AF_amr=0.0425;AF_eas=0.1585;AF_nfe=0.0180;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0303;non_topmed_AF_popmax=0.1586;non_neuro_AF_popmax=0.1585;non_cancer_AF_popmax=.;controls_AF_popmax=0.1605;Kaviar_AF=0.0424445;Kaviar_AC=6562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.908030;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179395874 rs55806007 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=18782;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78273A:p.P26091P,TTN:NM_133432:exon187:c.G78648A:p.P26216P,TTN:NM_133437:exon187:c.G78849A:p.P26283P,TTN:NM_133378:exon307:c.G97764A:p.P32588P,TTN:NM_001256850:exon308:c.G100545A:p.P33515P,TTN:NM_001267550:exon358:c.G105468A:p.P35156P;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55806007;CLNALLELEID=56855;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0119;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0169;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0063;AF=0.0084;AF_popmax=0.0101;AF_male=0.0083;AF_female=0.0086;AF_raw=0.0085;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0199;AF_asj=0.0276;AF_oth=0.0092;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0084346;Kaviar_AC=1304;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.856270;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395958 rs3813250 T C 100 PASS AC=57;AF=0.508187;AN=214;NS=2504;DP=20546;EAS_AF=0.7123;AMR_AF=0.4049;AFR_AF=0.5681;EUR_AF=0.2535;SAS_AF=0.5521;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A78189G:p.A26063A,TTN:NM_133432:exon187:c.A78564G:p.A26188A,TTN:NM_133437:exon187:c.A78765G:p.A26255A,TTN:NM_133378:exon307:c.A97680G:p.A32560A,TTN:NM_001256850:exon308:c.A100461G:p.A33487A,TTN:NM_001267550:exon358:c.A105384G:p.A35128A;1000g2015aug_all=0.508187;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813250;CLNALLELEID=56853;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2231;ExAC_nontcga_ALL=0.3614;ExAC_nontcga_AFR=0.5471;ExAC_nontcga_AMR=0.4304;ExAC_nontcga_EAS=0.6936;ExAC_nontcga_FIN=0.2768;ExAC_nontcga_NFE=0.2328;ExAC_nontcga_OTH=0.3377;ExAC_nontcga_SAS=0.5205;AF=0.3498;AF_popmax=0.6896;AF_male=0.3563;AF_female=0.3415;AF_raw=0.3502;AF_afr=0.5394;AF_sas=.;AF_amr=0.4116;AF_eas=0.6896;AF_nfe=0.2291;AF_fin=0.2696;AF_asj=0.2345;AF_oth=0.3026;non_topmed_AF_popmax=0.6891;non_neuro_AF_popmax=0.6896;non_cancer_AF_popmax=.;controls_AF_popmax=0.6715;Kaviar_AF=0.333728;Kaviar_AC=51595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.616577;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179396162 rs56308529 C G 100 PASS AC=9;AF=0.0229633;AN=214;NS=2504;DP=22749;EAS_AF=0;AMR_AF=0.0793;AFR_AF=0;EUR_AF=0.0467;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77985C:p.E25995D,TTN:NM_133432:exon187:c.G78360C:p.E26120D,TTN:NM_133437:exon187:c.G78561C:p.E26187D,TTN:NM_133378:exon307:c.G97476C:p.E32492D,TTN:NM_001256850:exon308:c.G100257C:p.E33419D,TTN:NM_001267550:exon358:c.G105180C:p.E35060D;1000g2015aug_all=0.0229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56308529;CLNALLELEID=56848;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.214;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.540;MutationTaster_converted_rankscore=0.336;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=0.02;FATHMM_converted_rankscore=0.623;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.350;PROVEAN_pred=N;VEST3_score=0.129;VEST3_rankscore=0.235;MetaSVM_score=-0.945;MetaSVM_rankscore=0.419;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_rankscore=0.132;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.686;CADD_raw_rankscore=0.384;CADD_phred=20.7;DANN_score=0.732;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.746;fathmm-MKL_coding_rankscore=0.362;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.214;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=0.031;phyloP100way_vertebrate_rankscore=0.135;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.846;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=8.136;SiPhy_29way_logOdds_rankscore=0.300;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.0376;ExAC_nontcga_AFR=0.0073;ExAC_nontcga_AMR=0.0964;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0240;ExAC_nontcga_NFE=0.0411;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0249;AF=0.0327;AF_popmax=0.0863;AF_male=0.0320;AF_female=0.0336;AF_raw=0.0328;AF_afr=0.0091;AF_sas=.;AF_amr=0.0863;AF_eas=0;AF_nfe=0.0478;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0432;non_topmed_AF_popmax=0.0879;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0384989;Kaviar_AC=5952;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.243897;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396354 rs3829748 G A 100 PASS AC=26;AF=0.231829;AN=214;NS=2504;DP=20197;EAS_AF=0.4504;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1392;SAS_AF=0.2679;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C77793T:p.V25931V,TTN:NM_133432:exon187:c.C78168T:p.V26056V,TTN:NM_133437:exon187:c.C78369T:p.V26123V,TTN:NM_133378:exon307:c.C97284T:p.V32428V,TTN:NM_001256850:exon308:c.C100065T:p.V33355V,TTN:NM_001267550:exon358:c.C104988T:p.V34996V;1000g2015aug_all=0.231829;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829748;CLNALLELEID=56845;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1451;ExAC_nontcga_ALL=0.1856;ExAC_nontcga_AFR=0.1427;ExAC_nontcga_AMR=0.1535;ExAC_nontcga_EAS=0.4313;ExAC_nontcga_FIN=0.1478;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1739;ExAC_nontcga_SAS=0.2552;AF=0.1646;AF_popmax=0.4407;AF_male=0.1650;AF_female=0.1640;AF_raw=0.1646;AF_afr=0.1423;AF_sas=.;AF_amr=0.1639;AF_eas=0.4407;AF_nfe=0.1528;AF_fin=0.1486;AF_asj=0.1207;AF_oth=0.1777;non_topmed_AF_popmax=0.4399;non_neuro_AF_popmax=0.4407;non_cancer_AF_popmax=.;controls_AF_popmax=0.4295;Kaviar_AF=0.177579;Kaviar_AC=27454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.070010;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179396573 rs56375087 T G 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21340;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56375087;CLNALLELEID=56841;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0776;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0236;ExAC_nontcga_SAS=0.0004;AF=0.0164;AF_popmax=0.0156;AF_male=0.0133;AF_female=0.0204;AF_raw=0.0165;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0156;AF_fin=0.0671;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0190;non_neuro_AF_popmax=0.0159;non_cancer_AF_popmax=.;controls_AF_popmax=0.0288;Kaviar_AF=0.0086998;Kaviar_AC=1345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.012148;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396766 rs68080670 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19317;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77381A:p.R25794Q,TTN:NM_133432:exon187:c.G77756A:p.R25919Q,TTN:NM_133437:exon187:c.G77957A:p.R25986Q,TTN:NM_133378:exon307:c.G96872A:p.R32291Q,TTN:NM_001256850:exon308:c.G99653A:p.R33218Q,TTN:NM_001267550:exon358:c.G104576A:p.R34859Q;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68080670;CLNALLELEID=56839;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.47;Polyphen2_HVAR_rankscore=0.450;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.448;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.665;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.508;PROVEAN_pred=N;VEST3_score=0.255;VEST3_rankscore=0.311;MetaSVM_score=-0.699;MetaSVM_rankscore=0.605;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_rankscore=0.481;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.918;CADD_raw_rankscore=0.528;CADD_phred=23.5;DANN_score=0.862;DANN_rankscore=0.159;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.371;Eigen-PC-raw=0.432;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.490;integrated_fitCons_score_rankscore=0.173;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=4.534;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.463;phastCons20way_mammalian_rankscore=0.265;SiPhy_29way_logOdds=13.76;SiPhy_29way_logOdds_rankscore=0.623;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0145;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0441;ExAC_nontcga_NFE=0.0169;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0026;AF=0.0171;AF_popmax=0.0222;AF_male=0.0158;AF_female=0.0189;AF_raw=0.0172;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0222;AF_fin=0.0426;AF_asj=0.0034;AF_oth=0.0212;non_topmed_AF_popmax=0.0246;non_neuro_AF_popmax=0.0230;non_cancer_AF_popmax=.;controls_AF_popmax=0.0336;Kaviar_AF=0.012212;Kaviar_AC=1888;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.023696;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396782 rs55866005 C G 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=19950;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77365C:p.V25789L,TTN:NM_133432:exon187:c.G77740C:p.V25914L,TTN:NM_133437:exon187:c.G77941C:p.V25981L,TTN:NM_133378:exon307:c.G96856C:p.V32286L,TTN:NM_001256850:exon308:c.G99637C:p.V33213L,TTN:NM_001267550:exon358:c.G104560C:p.V34854L;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55866005;CLNALLELEID=56838;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.947;MutationTaster_converted_rankscore=0.376;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.85;FATHMM_converted_rankscore=0.744;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.226;VEST3_rankscore=0.334;MetaSVM_score=-0.593;MetaSVM_rankscore=0.651;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_rankscore=0.542;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.643;M-CAP_pred=D;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.504;CADD_raw_rankscore=0.362;CADD_phred=19.49;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_rankscore=0.564;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.134;Eigen-PC-raw=0.032;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.490;integrated_fitCons_score_rankscore=0.173;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=4.842;phyloP100way_vertebrate_rankscore=0.623;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=14.127;SiPhy_29way_logOdds_rankscore=0.646;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0019;AF=0.0048;AF_popmax=0.0073;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0051422;Kaviar_AC=795;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.388015;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179397561 rs3829747 C T 100 PASS AC=26;AF=0.208666;AN=214;NS=2504;DP=22656;EAS_AF=0.4484;AMR_AF=0.1484;AFR_AF=0.0666;EUR_AF=0.1392;SAS_AF=0.2679;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G76586A:p.R25529H,TTN:NM_133432:exon187:c.G76961A:p.R25654H,TTN:NM_133437:exon187:c.G77162A:p.R25721H,TTN:NM_133378:exon307:c.G96077A:p.R32026H,TTN:NM_001256850:exon308:c.G98858A:p.R32953H,TTN:NM_001267550:exon358:c.G103781A:p.R34594H;1000g2015aug_all=0.208666;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829747;CLNALLELEID=56827;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-3.63;PROVEAN_converted_rankscore=0.716;PROVEAN_pred=D;VEST3_score=0.22;VEST3_rankscore=0.357;MetaSVM_score=-0.963;MetaSVM_rankscore=0.387;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.420;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.497;CADD_raw_rankscore=0.602;CADD_phred=24.3;DANN_score=0.949;DANN_rankscore=0.252;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.673;Eigen-PC-raw=0.730;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.421;integrated_fitCons_score_rankscore=0.056;integrated_confidence_value=0;GERP++_RS=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.674;SiPhy_29way_logOdds_rankscore=0.959;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1784;ExAC_nontcga_AFR=0.0674;ExAC_nontcga_AMR=0.1496;ExAC_nontcga_EAS=0.4311;ExAC_nontcga_FIN=0.1476;ExAC_nontcga_NFE=0.1459;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2552;AF=0.1446;AF_popmax=0.4377;AF_male=0.1450;AF_female=0.1440;AF_raw=0.1446;AF_afr=0.0732;AF_sas=.;AF_amr=0.1596;AF_eas=0.4377;AF_nfe=0.1525;AF_fin=0.1493;AF_asj=0.1069;AF_oth=0.1682;non_topmed_AF_popmax=0.4368;non_neuro_AF_popmax=0.4377;non_cancer_AF_popmax=.;controls_AF_popmax=0.4267;Kaviar_AF=0.170761;Kaviar_AC=26400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.925808;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179398195 rs148525155 C G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21916;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75952C:p.E25318Q,TTN:NM_133432:exon187:c.G76327C:p.E25443Q,TTN:NM_133437:exon187:c.G76528C:p.E25510Q,TTN:NM_133378:exon307:c.G95443C:p.E31815Q,TTN:NM_001256850:exon308:c.G98224C:p.E32742Q,TTN:NM_001267550:exon358:c.G103147C:p.E34383Q;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148525155;CLNALLELEID=136136;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_converted_rankscore=0.421;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=-2.02;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.403;MetaSVM_score=-0.325;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.312;MetaLR_rankscore=0.682;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.312;REVEL_rankscore=0.638;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.784;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.734;Eigen-PC-raw=0.771;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.503;SiPhy_29way_logOdds_rankscore=0.951;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0251;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0073;AF=0.0039;AF_popmax=0.0021;AF_male=0.0032;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0028784;Kaviar_AC=445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355946;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398509 rs3731752 C A 100 PASS AC=15;AF=0.0780751;AN=214;NS=2504;DP=21817;EAS_AF=0.1716;AMR_AF=0.0403;AFR_AF=0.0847;EUR_AF=0.0318;SAS_AF=0.047;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75638T:p.G25213V,TTN:NM_133432:exon187:c.G76013T:p.G25338V,TTN:NM_133437:exon187:c.G76214T:p.G25405V,TTN:NM_133378:exon307:c.G95129T:p.G31710V,TTN:NM_001256850:exon308:c.G97910T:p.G32637V,TTN:NM_001267550:exon358:c.G102833T:p.G34278V;1000g2015aug_all=0.0780751;GWAS=rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743;ORegAnno_REGULATORY_P=rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743;avsnp150=rs3731752;CLNALLELEID=56819;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.045;SIFT_converted_rankscore=0.408;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.285;MutationAssessor_score_rankscore=0.037;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-6.12;PROVEAN_converted_rankscore=0.900;PROVEAN_pred=D;VEST3_score=0.473;VEST3_rankscore=0.655;MetaSVM_score=-0.868;MetaSVM_rankscore=0.507;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.480;REVEL_rankscore=0.774;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.098;CADD_raw_rankscore=0.432;CADD_phred=22.5;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.844;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.618;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.852;SiPhy_29way_logOdds_rankscore=0.628;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0403;ExAC_nontcga_AFR=0.0722;ExAC_nontcga_AMR=0.0291;ExAC_nontcga_EAS=0.1661;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0214;ExAC_nontcga_OTH=0.0391;ExAC_nontcga_SAS=0.0491;AF=0.0391;AF_popmax=0.1587;AF_male=0.0419;AF_female=0.0356;AF_raw=0.0392;AF_afr=0.0730;AF_sas=.;AF_amr=0.0379;AF_eas=0.1587;AF_nfe=0.0176;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0239;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1587;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0379491;Kaviar_AC=5867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.951876;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179398591 rs56173891 T C 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=20895;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A75556G:p.M25186V,TTN:NM_133432:exon187:c.A75931G:p.M25311V,TTN:NM_133437:exon187:c.A76132G:p.M25378V,TTN:NM_133378:exon307:c.A95047G:p.M31683V,TTN:NM_001256850:exon308:c.A97828G:p.M32610V,TTN:NM_001267550:exon358:c.A102751G:p.M34251V;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173891;CLNALLELEID=173031;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.176;SIFT_converted_rankscore=0.267;SIFT_pred=T;Polyphen2_HDIV_score=0.299;Polyphen2_HDIV_rankscore=0.308;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.241;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.498;PROVEAN_pred=N;VEST3_score=0.195;VEST3_rankscore=0.239;MetaSVM_score=-1.010;MetaSVM_rankscore=0.268;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.359;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.406;M-CAP_pred=T;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.513;CADD_raw_rankscore=0.143;CADD_phred=7.532;DANN_score=0.772;DANN_rankscore=0.114;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_rankscore=0.522;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.452;Eigen-PC-raw=-0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=4.44;GERP++_RS_rankscore=0.530;phyloP100way_vertebrate=1.900;phyloP100way_vertebrate_rankscore=0.392;phyloP20way_mammalian=-0.249;phyloP20way_mammalian_rankscore=0.090;phastCons100way_vertebrate=0.979;phastCons100way_vertebrate_rankscore=0.349;phastCons20way_mammalian=0.932;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=10.793;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0007633;Kaviar_AC=118;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.843738;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398747 rs56347248 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23197;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56347248;CLNALLELEID=56816;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.52;SIFT_converted_rankscore=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.393;MutationTaster_pred=D;MutationAssessor_score=-0.115;MutationAssessor_score_rankscore=0.046;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.178;PROVEAN_pred=N;VEST3_score=0.163;VEST3_rankscore=0.361;MetaSVM_score=-0.792;MetaSVM_rankscore=0.556;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_rankscore=0.450;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.126;REVEL_rankscore=0.352;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.457;CADD_raw_rankscore=0.238;CADD_phred=13.09;DANN_score=0.859;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.080;Eigen-PC-raw=0.257;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.59;GERP++_RS_rankscore=0.846;phyloP100way_vertebrate=5.019;phyloP100way_vertebrate_rankscore=0.636;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.421;SiPhy_29way_logOdds_rankscore=0.490;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.041026;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398823 rs2857265 G A 100 PASS AC=26;AF=0.232029;AN=214;NS=2504;DP=23498;EAS_AF=0.4514;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1392;SAS_AF=0.2679;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75324T:p.G25108G,TTN:NM_133432:exon187:c.C75699T:p.G25233G,TTN:NM_133437:exon187:c.C75900T:p.G25300G,TTN:NM_133378:exon307:c.C94815T:p.G31605G,TTN:NM_001256850:exon308:c.C97596T:p.G32532G,TTN:NM_001267550:exon358:c.C102519T:p.G34173G;1000g2015aug_all=0.232029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2857265;CLNALLELEID=56814;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1465;ExAC_nontcga_ALL=0.1855;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.1528;ExAC_nontcga_EAS=0.4302;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1754;ExAC_nontcga_SAS=0.2550;AF=0.1642;AF_popmax=0.4385;AF_male=0.1645;AF_female=0.1639;AF_raw=0.1646;AF_afr=0.1414;AF_sas=.;AF_amr=0.1631;AF_eas=0.4385;AF_nfe=0.1531;AF_fin=0.1492;AF_asj=0.1207;AF_oth=0.1765;non_topmed_AF_popmax=0.4376;non_neuro_AF_popmax=0.4385;non_cancer_AF_popmax=.;controls_AF_popmax=0.4259;Kaviar_AF=0.17743;Kaviar_AC=27431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.278344;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179398989 rs551905996 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21379;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75158A:p.R25053Q,TTN:NM_133432:exon187:c.G75533A:p.R25178Q,TTN:NM_133437:exon187:c.G75734A:p.R25245Q,TTN:NM_133378:exon307:c.G94649A:p.R31550Q,TTN:NM_001256850:exon308:c.G97430A:p.R32477Q,TTN:NM_001267550:exon358:c.G102353A:p.R34118Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551905996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.468;Polyphen2_HVAR_rankscore=0.520;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.416;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-2.83;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.228;VEST3_rankscore=0.437;MetaSVM_score=-0.587;MetaSVM_rankscore=0.654;MetaSVM_pred=T;MetaLR_score=0.215;MetaLR_rankscore=0.577;MetaLR_pred=T;M-CAP_score=0.041;M-CAP_rankscore=0.596;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.802;CADD_raw_rankscore=0.514;CADD_phred=23.4;DANN_score=0.882;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.518;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.379;Eigen-PC-raw=0.468;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.48;GERP++_RS_rankscore=0.806;phyloP100way_vertebrate=3.146;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.495;SiPhy_29way_logOdds_rankscore=0.908;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0006;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.382088;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399071 rs140319117 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21644;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75076T:p.R25026W,TTN:NM_133432:exon187:c.C75451T:p.R25151W,TTN:NM_133437:exon187:c.C75652T:p.R25218W,TTN:NM_133378:exon307:c.C94567T:p.R31523W,TTN:NM_001256850:exon308:c.C97348T:p.R32450W,TTN:NM_001267550:exon358:c.C102271T:p.R34091W;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140319117;CLNALLELEID=172615;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_rankscore=0.666;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.456;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_converted_rankscore=0.437;FATHMM_pred=T;PROVEAN_score=-5.41;PROVEAN_converted_rankscore=0.878;PROVEAN_pred=D;VEST3_score=0.491;VEST3_rankscore=0.772;MetaSVM_score=-0.896;MetaSVM_rankscore=0.484;MetaSVM_pred=T;MetaLR_score=0.134;MetaLR_rankscore=0.447;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.501;M-CAP_pred=D;REVEL_score=0.328;REVEL_rankscore=0.654;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.933;CADD_raw_rankscore=0.530;CADD_phred=23.5;DANN_score=0.960;DANN_rankscore=0.279;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.600;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.571;Eigen-PC-raw=0.626;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=5.718;phyloP100way_vertebrate_rankscore=0.679;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.197;SiPhy_29way_logOdds_rankscore=0.590;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0005;AF_raw=0.0007;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.817307;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399451 rs55669553 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20378;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55669553;CLNALLELEID=56807;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_rankscore=0.244;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.965;MutationAssessor_score_rankscore=0.855;MutationAssessor_pred=M;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-3.49;PROVEAN_converted_rankscore=0.697;PROVEAN_pred=D;VEST3_score=0.378;VEST3_rankscore=0.458;MetaSVM_score=-0.916;MetaSVM_rankscore=0.461;MetaSVM_pred=T;MetaLR_score=0.142;MetaLR_rankscore=0.463;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.009;CADD_raw_rankscore=0.539;CADD_phred=23.6;DANN_score=0.927;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.114;Eigen-PC-raw=0.267;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=5.062;phyloP100way_vertebrate_rankscore=0.639;phyloP20way_mammalian=0.068;phyloP20way_mammalian_rankscore=0.175;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.569;SiPhy_29way_logOdds_rankscore=0.760;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0236;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037516;Kaviar_AC=580;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.977310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399537 rs76106451 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22130;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.T74610G:p.I24870M,TTN:NM_133432:exon187:c.T74985G:p.I24995M,TTN:NM_133437:exon187:c.T75186G:p.I25062M,TTN:NM_133378:exon307:c.T94101G:p.I31367M,TTN:NM_001256850:exon308:c.T96882G:p.I32294M,TTN:NM_001267550:exon358:c.T101805G:p.I33935M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76106451;CLNALLELEID=491649;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.948;Polyphen2_HVAR_rankscore=0.668;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_converted_rankscore=0.428;MutationTaster_pred=D;MutationAssessor_score=3.645;MutationAssessor_score_rankscore=0.943;MutationAssessor_pred=H;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.495;PROVEAN_pred=N;VEST3_score=0.27;VEST3_rankscore=0.488;MetaSVM_score=0.100;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.554;MetaLR_rankscore=0.837;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.499;M-CAP_pred=D;REVEL_score=0.559;REVEL_rankscore=0.821;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.640;CADD_raw_rankscore=0.155;CADD_phred=8.431;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.282;Eigen-PC-raw=0.186;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.306;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=-0.076;GERP++_RS_rankscore=0.130;phyloP100way_vertebrate=2.489;phyloP100way_vertebrate_rankscore=0.447;phyloP20way_mammalian=0.234;phyloP20way_mammalian_rankscore=0.260;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.764;SiPhy_29way_logOdds_rankscore=0.453;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.863e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.559e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.481e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.654604;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399576 rs55886356 C G 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=22810;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74571C:p.Q24857H,TTN:NM_133432:exon187:c.G74946C:p.Q24982H,TTN:NM_133437:exon187:c.G75147C:p.Q25049H,TTN:NM_133378:exon307:c.G94062C:p.Q31354H,TTN:NM_001256850:exon308:c.G96843C:p.Q32281H,TTN:NM_001267550:exon358:c.G101766C:p.Q33922H;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55886356;CLNALLELEID=56805;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.477;MutationTaster_pred=D;MutationAssessor_score=3.29;MutationAssessor_score_rankscore=0.905;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_converted_rankscore=0.555;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.273;VEST3_rankscore=0.483;MetaSVM_score=-0.481;MetaSVM_rankscore=0.694;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_rankscore=0.636;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.720;CADD_raw_rankscore=0.268;CADD_phred=14.52;DANN_score=0.865;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_rankscore=0.541;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.528;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.404;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.99;GERP++_RS_rankscore=0.454;phyloP100way_vertebrate=0.705;phyloP100way_vertebrate_rankscore=0.252;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=8.901;SiPhy_29way_logOdds_rankscore=0.345;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0020;AF=0.0061;AF_popmax=0.0107;AF_male=0.0066;AF_female=0.0055;AF_raw=0.0061;AF_afr=0.0013;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0107;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.536771;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399677 rs34924609 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=23390;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74470A:p.V24824I,TTN:NM_133432:exon187:c.G74845A:p.V24949I,TTN:NM_133437:exon187:c.G75046A:p.V25016I,TTN:NM_133378:exon307:c.G93961A:p.V31321I,TTN:NM_001256850:exon308:c.G96742A:p.V32248I,TTN:NM_001267550:exon358:c.G101665A:p.V33889I;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34924609;CLNALLELEID=56803;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_rankscore=0.139;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.446;MutationTaster_pred=D;MutationAssessor_score=0.45;MutationAssessor_score_rankscore=0.128;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_converted_rankscore=0.418;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.102;VEST3_rankscore=0.126;MetaSVM_score=-1.030;MetaSVM_rankscore=0.204;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_rankscore=0.299;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.372;M-CAP_pred=T;REVEL_score=0.060;REVEL_rankscore=0.177;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.339;CADD_raw_rankscore=0.342;CADD_phred=18.42;DANN_score=0.811;DANN_rankscore=0.131;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_rankscore=0.497;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=0.107;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=4.95;GERP++_RS_rankscore=0.648;phyloP100way_vertebrate=2.634;phyloP100way_vertebrate_rankscore=0.459;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.705;SiPhy_29way_logOdds_rankscore=0.507;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0033;AF_popmax=0.0054;AF_male=0.0038;AF_female=0.0027;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0017;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0037322;Kaviar_AC=577;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935117;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179399936 rs55802460 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20884;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C74211G:p.V24737V,TTN:NM_133432:exon187:c.C74586G:p.V24862V,TTN:NM_133437:exon187:c.C74787G:p.V24929V,TTN:NM_133378:exon307:c.C93702G:p.V31234V,TTN:NM_001256850:exon308:c.C96483G:p.V32161V,TTN:NM_001267550:exon358:c.C101406G:p.V33802V;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55802460;CLNALLELEID=56802;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0232;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.352120;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179400586 rs202214630 A G 100 PASS AC=3;AF=0.0233626;AN=214;NS=2504;DP=19919;EAS_AF=0.0635;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202214630;CLNALLELEID=102218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0050;ExAC_nontcga_ALL=0.2625;ExAC_nontcga_AFR=0.0312;ExAC_nontcga_AMR=0.2754;ExAC_nontcga_EAS=0.3538;ExAC_nontcga_FIN=0.3905;ExAC_nontcga_NFE=0.2528;ExAC_nontcga_OTH=0.3810;ExAC_nontcga_SAS=0.0941;AF=0.0290;AF_popmax=0.0627;AF_male=0.0282;AF_female=0.0300;AF_raw=0.0249;AF_afr=0.0046;AF_sas=.;AF_amr=0.0415;AF_eas=0.0627;AF_nfe=0.0266;AF_fin=0.1297;AF_asj=0.0391;AF_oth=0.0403;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0627;non_cancer_AF_popmax=.;controls_AF_popmax=0.0592;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179400895 rs2278196 C T 100 PASS AC=13;AF=0.0654952;AN=214;NS=2504;DP=21422;EAS_AF=0.1488;AMR_AF=0.036;AFR_AF=0.0847;EUR_AF=0.0298;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.G73384A:p.V24462I,TTN:NM_133432:exon186:c.G73759A:p.V24587I,TTN:NM_133437:exon186:c.G73960A:p.V24654I,TTN:NM_133378:exon306:c.G92875A:p.V30959I,TTN:NM_001256850:exon307:c.G95656A:p.V31886I,TTN:NM_001267550:exon357:c.G100579A:p.V33527I;1000g2015aug_all=0.0654952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278196;CLNALLELEID=56793;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.242;SIFT_converted_rankscore=0.176;SIFT_pred=T;Polyphen2_HDIV_score=0.774;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_rankscore=0.272;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.486;MutationTaster_pred=P;MutationAssessor_score=0.215;MutationAssessor_score_rankscore=0.096;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.5;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.238;MetaSVM_score=-0.982;MetaSVM_rankscore=0.346;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.004;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.207;REVEL_rankscore=0.500;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.526;CADD_raw_rankscore=0.481;CADD_phred=23.1;DANN_score=0.868;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.679;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.213;Eigen-PC-raw=0.374;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.730;integrated_fitCons_score_rankscore=0.875;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=4.767;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.959;SiPhy_29way_logOdds_rankscore=0.972;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0730;ExAC_nontcga_AMR=0.0279;ExAC_nontcga_EAS=0.1484;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0183;ExAC_nontcga_OTH=0.0307;ExAC_nontcga_SAS=0.0139;AF=0.0371;AF_popmax=0.1403;AF_male=0.0396;AF_female=0.0340;AF_raw=0.0371;AF_afr=0.0723;AF_sas=.;AF_amr=0.0389;AF_eas=0.1403;AF_nfe=0.0161;AF_fin=0.0006;AF_asj=0.0310;AF_oth=0.0221;non_topmed_AF_popmax=0.1392;non_neuro_AF_popmax=0.1403;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.0303554;Kaviar_AC=4693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.346311;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401074 rs200166942 A C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21719;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.T73205G:p.V24402G,TTN:NM_133432:exon186:c.T73580G:p.V24527G,TTN:NM_133437:exon186:c.T73781G:p.V24594G,TTN:NM_133378:exon306:c.T92696G:p.V30899G,TTN:NM_001256850:exon307:c.T95477G:p.V31826G,TTN:NM_001267550:exon357:c.T100400G:p.V33467G;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200166942;CLNALLELEID=172621;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.98;MutationAssessor_score_rankscore=0.967;MutationAssessor_pred=H;FATHMM_score=-0.83;FATHMM_converted_rankscore=0.742;FATHMM_pred=T;PROVEAN_score=-5.34;PROVEAN_converted_rankscore=0.899;PROVEAN_pred=D;VEST3_score=0.52;VEST3_rankscore=0.757;MetaSVM_score=0.778;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.733;MetaLR_rankscore=0.909;MetaLR_pred=D;M-CAP_score=0.198;M-CAP_rankscore=0.866;M-CAP_pred=D;REVEL_score=0.861;REVEL_rankscore=0.958;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.164;CADD_raw_rankscore=0.321;CADD_phred=17.27;DANN_score=0.900;DANN_rankscore=0.187;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.892;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.058;Eigen-PC-raw=0.971;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.068;SiPhy_29way_logOdds_rankscore=0.806;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.027e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003363;Kaviar_AC=52;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.555167;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401311 rs397517782 C CA 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=16917;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0051;AA=?|AAAAAAAA|AAAAAAAAA|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517782;CLNALLELEID=56790;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0120;AF=0.0054;AF_popmax=0.0090;AF_male=0.0053;AF_female=0.0056;AF_raw=0.0052;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0022;AF_asj=0.0241;AF_oth=0.0096;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401740 rs55675869 C T 100 PASS AC=3;AF=0.0231629;AN=214;NS=2504;DP=17856;EAS_AF=0.0625;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72901A:p.V24301I,TTN:NM_133432:exon185:c.G73276A:p.V24426I,TTN:NM_133437:exon185:c.G73477A:p.V24493I,TTN:NM_133378:exon305:c.G92392A:p.V30798I,TTN:NM_001256850:exon306:c.G95173A:p.V31725I,TTN:NM_001267550:exon356:c.G100096A:p.V33366I;1000g2015aug_all=0.0231629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55675869;CLNALLELEID=56789;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.141;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.035;MutationAssessor_score_rankscore=0.558;MutationAssessor_pred=M;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.214;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.272;MetaSVM_score=-0.587;MetaSVM_rankscore=0.653;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.289;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.001;CADD_raw_rankscore=0.421;CADD_phred=22.2;DANN_score=0.889;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.727;Eigen-PC-raw=0.739;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.497;SiPhy_29way_logOdds_rankscore=0.950;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0295;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0370;ExAC_nontcga_EAS=0.0735;ExAC_nontcga_FIN=0.0684;ExAC_nontcga_NFE=0.0272;ExAC_nontcga_OTH=0.0356;ExAC_nontcga_SAS=0.0078;AF=0.0256;AF_popmax=0.0610;AF_male=0.0249;AF_female=0.0264;AF_raw=0.0256;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0610;AF_nfe=0.0244;AF_fin=0.0656;AF_asj=0.0310;AF_oth=0.0331;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0610;non_cancer_AF_popmax=.;controls_AF_popmax=0.0557;Kaviar_AF=0.0262739;Kaviar_AC=4062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.115041;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401742 rs55742743 C T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=18018;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72899A:p.R24300Q,TTN:NM_133432:exon185:c.G73274A:p.R24425Q,TTN:NM_133437:exon185:c.G73475A:p.R24492Q,TTN:NM_133378:exon305:c.G92390A:p.R30797Q,TTN:NM_001256850:exon306:c.G95171A:p.R31724Q,TTN:NM_001267550:exon356:c.G100094A:p.R33365Q;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55742743;CLNALLELEID=56788;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.925;MutationAssessor_score_rankscore=0.847;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-3.07;PROVEAN_converted_rankscore=0.678;PROVEAN_pred=D;VEST3_score=0.282;VEST3_rankscore=0.555;MetaSVM_score=-0.120;MetaSVM_rankscore=0.797;MetaSVM_pred=T;MetaLR_score=0.316;MetaLR_rankscore=0.686;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.485;REVEL_rankscore=0.777;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.269;CADD_raw_rankscore=0.572;CADD_phred=23.9;DANN_score=0.975;DANN_rankscore=0.335;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.909;Eigen-PC-raw=0.858;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=19.497;SiPhy_29way_logOdds_rankscore=0.950;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0118;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0022;ExAC_nontcga_NFE=0.0184;ExAC_nontcga_OTH=0.0124;ExAC_nontcga_SAS=0.0070;AF=0.0119;AF_popmax=0.0195;AF_male=0.0122;AF_female=0.0115;AF_raw=0.0119;AF_afr=0.0038;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0195;AF_fin=0.0032;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0173;non_neuro_AF_popmax=0.0198;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0129235;Kaviar_AC=1998;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.243624;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401777 rs56026369 A T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17893;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.T72864A:p.I24288I,TTN:NM_133432:exon185:c.T73239A:p.I24413I,TTN:NM_133437:exon185:c.T73440A:p.I24480I,TTN:NM_133378:exon305:c.T92355A:p.I30785I,TTN:NM_001256850:exon306:c.T95136A:p.I31712I,TTN:NM_001267550:exon356:c.T100059A:p.I33353I;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56026369;CLNALLELEID=56787;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.510863;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179402301 rs530027314 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17646;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon183:c.T72438A:p.G24146G,TTN:NM_133432:exon184:c.T72813A:p.G24271G,TTN:NM_133437:exon184:c.T73014A:p.G24338G,TTN:NM_133378:exon304:c.T91929A:p.G30643G,TTN:NM_001256850:exon305:c.T94710A:p.G31570G,TTN:NM_001267550:exon355:c.T99633A:p.G33211G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530027314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.502e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.381445;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179402474 rs143556947 G A 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=21582;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon183:c.C72265T:p.R24089C,TTN:NM_133432:exon184:c.C72640T:p.R24214C,TTN:NM_133437:exon184:c.C72841T:p.R24281C,TTN:NM_133378:exon304:c.C91756T:p.R30586C,TTN:NM_001256850:exon305:c.C94537T:p.R31513C,TTN:NM_001267550:exon355:c.C99460T:p.R33154C;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143556947;CLNALLELEID=274602;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-5.59;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.43;VEST3_rankscore=0.566;MetaSVM_score=-0.049;MetaSVM_rankscore=0.812;MetaSVM_pred=T;MetaLR_score=0.495;MetaLR_rankscore=0.809;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.486;REVEL_rankscore=0.777;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.461;CADD_raw_rankscore=0.597;CADD_phred=24.2;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.927;Eigen-PC-raw=0.928;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.89;GERP++_RS_rankscore=0.947;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.256;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.748e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.533e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.632990;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179403425 rs548242100 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19456;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon182:c.C71936T:p.A23979V,TTN:NM_133432:exon183:c.C72311T:p.A24104V,TTN:NM_133437:exon183:c.C72512T:p.A24171V,TTN:NM_133378:exon303:c.C91427T:p.A30476V,TTN:NM_001256850:exon304:c.C94208T:p.A31403V,TTN:NM_001267550:exon354:c.C99131T:p.A33044V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548242100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.02;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=0.698;Polyphen2_HDIV_rankscore=0.399;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.492;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=0.215;MutationAssessor_score_rankscore=0.096;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.281;VEST3_rankscore=0.340;MetaSVM_score=-0.833;MetaSVM_rankscore=0.531;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.445;M-CAP_pred=T;REVEL_score=0.210;REVEL_rankscore=0.505;MutPred_score=0.37;MutPred_rankscore=0.381;CADD_raw=3.515;CADD_raw_rankscore=0.480;CADD_phred=23.1;DANN_score=0.970;DANN_rankscore=0.312;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.649;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.516;Eigen-PC-raw=0.637;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=6.881;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.583;SiPhy_29way_logOdds_rankscore=0.994;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.472e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629516|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.927466;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179403593 rs2303539 G A 100 PASS AC=26;AF=0.185104;AN=214;NS=2504;DP=22097;EAS_AF=0.4514;AMR_AF=0.1427;AFR_AF=0.0023;EUR_AF=0.1392;SAS_AF=0.2352;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303539;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1444;ExAC_nontcga_ALL=0.1711;ExAC_nontcga_AFR=0.0216;ExAC_nontcga_AMR=0.1478;ExAC_nontcga_EAS=0.4316;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1724;ExAC_nontcga_SAS=0.2434;AF=0.1324;AF_popmax=0.4414;AF_male=0.1327;AF_female=0.1319;AF_raw=0.1323;AF_afr=0.0279;AF_sas=.;AF_amr=0.1596;AF_eas=0.4414;AF_nfe=0.1530;AF_fin=0.1491;AF_asj=0.1069;AF_oth=0.1682;non_topmed_AF_popmax=0.4406;non_neuro_AF_popmax=0.4414;non_cancer_AF_popmax=.;controls_AF_popmax=0.4297;Kaviar_AF=0.160522;Kaviar_AC=24817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179403750 rs4894028 C T 100 PASS AC=10;AF=0.076877;AN=214;NS=2504;DP=21205;EAS_AF=0.0248;AMR_AF=0.1484;AFR_AF=0.0113;EUR_AF=0.0477;SAS_AF=0.1984;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon181:c.G71717A:p.R23906H,TTN:NM_133432:exon182:c.G72092A:p.R24031H,TTN:NM_133437:exon182:c.G72293A:p.R24098H,TTN:NM_133378:exon302:c.G91208A:p.R30403H,TTN:NM_001256850:exon303:c.G93989A:p.R31330H,TTN:NM_001267550:exon353:c.G98912A:p.R32971H;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894028;CLNALLELEID=56774;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.55;MutationAssessor_score_rankscore=0.934;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-3.71;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.368;VEST3_rankscore=0.458;MetaSVM_score=-0.475;MetaSVM_rankscore=0.696;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.435;REVEL_rankscore=0.743;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.332;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.966;DANN_rankscore=0.298;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.130;Eigen-PC-raw=1.045;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.621;SiPhy_29way_logOdds_rankscore=0.995;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000266413.2|ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0287;ExAC_nontcga_ALL=0.0726;ExAC_nontcga_AFR=0.0131;ExAC_nontcga_AMR=0.1954;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0326;ExAC_nontcga_OTH=0.0768;ExAC_nontcga_SAS=0.1803;AF=0.0316;AF_popmax=0.1643;AF_male=0.0314;AF_female=0.0320;AF_raw=0.0317;AF_afr=0.0134;AF_sas=.;AF_amr=0.1643;AF_eas=0.0288;AF_nfe=0.0290;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1708;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0646175;Kaviar_AC=9990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.244583;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404197 rs55977045 T C 100 PASS AC=3;AF=0.00399361;AN=214;NS=2504;DP=22145;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71400G:p.E23800E,TTN:NM_133432:exon181:c.A71775G:p.E23925E,TTN:NM_133437:exon181:c.A71976G:p.E23992E,TTN:NM_133378:exon301:c.A90891G:p.E30297E,TTN:NM_001256850:exon302:c.A93672G:p.E31224E,TTN:NM_001267550:exon352:c.A98595G:p.E32865E;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55977045;CLNALLELEID=56768;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0021;AF=0.0108;AF_popmax=0.0163;AF_male=0.0109;AF_female=0.0106;AF_raw=0.0108;AF_afr=0.0029;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0092;AF_asj=0.0310;AF_oth=0.0119;non_topmed_AF_popmax=0.0151;non_neuro_AF_popmax=0.0166;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.012102;Kaviar_AC=1871;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.947865;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404293 rs138968178 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21721;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71304T:p.L23768L,TTN:NM_133432:exon181:c.C71679T:p.L23893L,TTN:NM_133437:exon181:c.C71880T:p.L23960L,TTN:NM_133378:exon301:c.C90795T:p.L30265L,TTN:NM_001256850:exon302:c.C93576T:p.L31192L,TTN:NM_001267550:exon352:c.C98499T:p.L32833L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138968178;CLNALLELEID=56767;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.229635;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404402 rs149001703 T C 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=21346;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149001703;CLNALLELEID=56764;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.272;SIFT_converted_rankscore=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_rankscore=0.236;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.313;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.926;MutationTaster_converted_rankscore=0.368;MutationTaster_pred=D;MutationAssessor_score=-1.165;MutationAssessor_score_rankscore=0.009;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=-2.26;PROVEAN_converted_rankscore=0.505;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.103;MetaSVM_score=-0.942;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.102;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.176;REVEL_rankscore=0.449;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.106;CADD_raw_rankscore=0.200;CADD_phred=11.25;DANN_score=0.944;DANN_rankscore=0.243;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.746;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.233;Eigen-PC-raw=0.071;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.865;phyloP100way_vertebrate_rankscore=0.625;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.883;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0067;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0036;AF_popmax=0.0106;AF_male=0.0041;AF_female=0.0029;AF_raw=0.0036;AF_afr=0.0010;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0006;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0047412;Kaviar_AC=733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.955154;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179404461 rs527806107 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22560;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.G71136A:p.L23712L,TTN:NM_133432:exon181:c.G71511A:p.L23837L,TTN:NM_133437:exon181:c.G71712A:p.L23904L,TTN:NM_133378:exon301:c.G90627A:p.L30209L,TTN:NM_001256850:exon302:c.G93408A:p.L31136L,TTN:NM_001267550:exon352:c.G98331A:p.L32777L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527806107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.477e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.447063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404498 rs72648273 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=23934;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71099G:p.A23700G,TTN:NM_133432:exon181:c.C71474G:p.A23825G,TTN:NM_133437:exon181:c.C71675G:p.A23892G,TTN:NM_133378:exon301:c.C90590G:p.A30197G,TTN:NM_001256850:exon302:c.C93371G:p.A31124G,TTN:NM_001267550:exon352:c.C98294G:p.A32765G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648273;CLNALLELEID=56762;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.66;MutationAssessor_score_rankscore=0.781;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_converted_rankscore=0.672;PROVEAN_pred=D;VEST3_score=0.273;VEST3_rankscore=0.380;MetaSVM_score=-0.043;MetaSVM_rankscore=0.814;MetaSVM_pred=T;MetaLR_score=0.516;MetaLR_rankscore=0.819;MetaLR_pred=D;M-CAP_score=0.013;M-CAP_rankscore=0.317;M-CAP_pred=T;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.862;CADD_raw_rankscore=0.405;CADD_phred=21.7;DANN_score=0.954;DANN_rankscore=0.262;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.789;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.932;Eigen-PC-raw=0.954;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0028;AF_popmax=0.0043;AF_male=0.0023;AF_female=0.0034;AF_raw=0.0028;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0043;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0027167;Kaviar_AC=420;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.221837;ALLELE_END 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404628 rs72648270 T A 100 PASS AC=13;AF=0.0425319;AN=214;NS=2504;DP=24155;EAS_AF=0.1488;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.0298;SAS_AF=0.0112;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A70969T:p.I23657F,TTN:NM_133432:exon181:c.A71344T:p.I23782F,TTN:NM_133437:exon181:c.A71545T:p.I23849F,TTN:NM_133378:exon301:c.A90460T:p.I30154F,TTN:NM_001256850:exon302:c.A93241T:p.I31081F,TTN:NM_001267550:exon352:c.A98164T:p.I32722F;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648270;CLNALLELEID=56759;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.218;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.939;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=P;MutationAssessor_score=1.41;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_converted_rankscore=0.441;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.423;VEST3_rankscore=0.574;MetaSVM_score=-1.191;MetaSVM_rankscore=0.002;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.180;REVEL_rankscore=0.456;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.893;CADD_raw_rankscore=0.408;CADD_phred=21.8;DANN_score=0.833;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.532;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.641;Eigen-PC-raw=0.658;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=3.395;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0170;ExAC_nontcga_ALL=0.0256;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0248;ExAC_nontcga_EAS=0.1488;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0135;AF=0.0175;AF_popmax=0.1412;AF_male=0.0187;AF_female=0.0160;AF_raw=0.0175;AF_afr=0.0038;AF_sas=.;AF_amr=0.0318;AF_eas=0.1412;AF_nfe=0.0159;AF_fin=0.0003;AF_asj=0.0310;AF_oth=0.0147;non_topmed_AF_popmax=0.1408;non_neuro_AF_popmax=0.1412;non_cancer_AF_popmax=.;controls_AF_popmax=0.1519;Kaviar_AF=0.0247927;Kaviar_AC=3833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.370116;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404786 rs2288325 A T 100 PASS AC=26;AF=0.232628;AN=214;NS=2504;DP=23101;EAS_AF=0.4544;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1382;SAS_AF=0.2689;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.232628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288325;CLNALLELEID=56758;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1464;ExAC_nontcga_ALL=0.1864;ExAC_nontcga_AFR=0.1433;ExAC_nontcga_AMR=0.1539;ExAC_nontcga_EAS=0.4329;ExAC_nontcga_FIN=0.1480;ExAC_nontcga_NFE=0.1476;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.2716;AF=0.1649;AF_popmax=0.4429;AF_male=0.1652;AF_female=0.1645;AF_raw=0.1650;AF_afr=0.1425;AF_sas=.;AF_amr=0.1643;AF_eas=0.4429;AF_nfe=0.1532;AF_fin=0.1488;AF_asj=0.1207;AF_oth=0.1786;non_topmed_AF_popmax=0.4422;non_neuro_AF_popmax=0.4429;non_cancer_AF_popmax=.;controls_AF_popmax=0.4314;Kaviar_AF=0.176259;Kaviar_AC=27250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.277699;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179406003 rs3731750 C A 100 PASS AC=56;AF=0.504593;AN=214;NS=2504;DP=20236;EAS_AF=0.7133;AMR_AF=0.402;AFR_AF=0.5605;EUR_AF=0.2485;SAS_AF=0.5501;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.504593;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731750;CLNALLELEID=56754;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.06;esp6500siv2_ea=0.2102;ExAC_nontcga_ALL=0.4197;ExAC_nontcga_AFR=0.5646;ExAC_nontcga_AMR=0.4467;ExAC_nontcga_EAS=0.7235;ExAC_nontcga_FIN=0.2867;ExAC_nontcga_NFE=0.2808;ExAC_nontcga_OTH=0.4535;ExAC_nontcga_SAS=0.6018;AF=0.3465;AF_popmax=0.6911;AF_male=0.3521;AF_female=0.3396;AF_raw=0.3468;AF_afr=0.5314;AF_sas=.;AF_amr=0.4090;AF_eas=0.6911;AF_nfe=0.2274;AF_fin=0.2690;AF_asj=0.2326;AF_oth=0.2974;non_topmed_AF_popmax=0.6906;non_neuro_AF_popmax=0.6911;non_cancer_AF_popmax=.;controls_AF_popmax=0.6765;Kaviar_AF=0.185942;Kaviar_AC=28747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588161;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179406191 rs3731749 C T 100 PASS AC=26;AF=0.209265;AN=214;NS=2504;DP=15530;EAS_AF=0.4514;AMR_AF=0.1484;AFR_AF=0.0666;EUR_AF=0.1382;SAS_AF=0.2689;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H;1000g2015aug_all=0.209265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731749;CLNALLELEID=56750;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.96;MutationAssessor_score_rankscore=0.854;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_converted_rankscore=0.751;PROVEAN_pred=D;VEST3_score=0.277;VEST3_rankscore=0.483;MetaSVM_score=-1.035;MetaSVM_rankscore=0.187;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.482;REVEL_rankscore=0.775;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.326;CADD_raw_rankscore=0.721;CADD_phred=25.8;DANN_score=0.986;DANN_rankscore=0.434;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.859;Eigen-PC-raw=0.849;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.902;phyloP100way_vertebrate_rankscore=0.860;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=19.871;SiPhy_29way_logOdds_rankscore=0.968;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1453;ExAC_nontcga_ALL=0.1809;ExAC_nontcga_AFR=0.0701;ExAC_nontcga_AMR=0.1527;ExAC_nontcga_EAS=0.4308;ExAC_nontcga_FIN=0.1482;ExAC_nontcga_NFE=0.1476;ExAC_nontcga_OTH=0.1731;ExAC_nontcga_SAS=0.2624;AF=0.1444;AF_popmax=0.4349;AF_male=0.1448;AF_female=0.1441;AF_raw=0.1449;AF_afr=0.0734;AF_sas=.;AF_amr=0.1592;AF_eas=0.4349;AF_nfe=0.1528;AF_fin=0.1491;AF_asj=0.1069;AF_oth=0.1685;non_topmed_AF_popmax=0.4339;non_neuro_AF_popmax=0.4349;non_cancer_AF_popmax=.;controls_AF_popmax=0.4233;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.437378;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179407663 rs72648266 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=21328;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon176:c.C69723T:p.I23241I,TTN:NM_133432:exon177:c.C70098T:p.I23366I,TTN:NM_133437:exon177:c.C70299T:p.I23433I,TTN:NM_133378:exon297:c.C89214T:p.I29738I,TTN:NM_001256850:exon298:c.C91995T:p.I30665I,TTN:NM_001267550:exon348:c.C96918T:p.I32306I;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648266;CLNALLELEID=56737;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0006;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.824661;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179408713 rs62621236 A G 100 PASS AC=11;AF=0.115815;AN=214;NS=2504;DP=18933;EAS_AF=0.0258;AMR_AF=0.1643;AFR_AF=0.146;EUR_AF=0.0517;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon174:c.T68963C:p.I22988T,TTN:NM_133432:exon175:c.T69338C:p.I23113T,TTN:NM_133437:exon175:c.T69539C:p.I23180T,TTN:NM_133378:exon295:c.T88454C:p.I29485T,TTN:NM_001256850:exon296:c.T91235C:p.I30412T,TTN:NM_001267550:exon346:c.T96158C:p.I32053T;1000g2015aug_all=0.115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621236;CLNALLELEID=56730;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.152;SIFT_converted_rankscore=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_rankscore=0.184;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.212;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.193;MutationTaster_converted_rankscore=0.377;MutationTaster_pred=P;MutationAssessor_score=0.17;MutationAssessor_score_rankscore=0.090;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.667;PROVEAN_pred=D;VEST3_score=0.337;VEST3_rankscore=0.398;MetaSVM_score=-1.074;MetaSVM_rankscore=0.086;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.368;CADD_raw_rankscore=0.346;CADD_phred=18.61;DANN_score=0.886;DANN_rankscore=0.175;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.090;Eigen-PC-raw=0.158;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=6.294;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.996;SiPhy_29way_logOdds_rankscore=0.800;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0322;ExAC_nontcga_ALL=0.0853;ExAC_nontcga_AFR=0.1465;ExAC_nontcga_AMR=0.2029;ExAC_nontcga_EAS=0.0237;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0344;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.1820;AF=0.0694;AF_popmax=0.1769;AF_male=0.0710;AF_female=0.0674;AF_raw=0.0696;AF_afr=0.1441;AF_sas=.;AF_amr=0.1769;AF_eas=0.0289;AF_nfe=0.0308;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0561;non_topmed_AF_popmax=0.1827;non_neuro_AF_popmax=0.1841;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.0767002;Kaviar_AC=11858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.837078;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410282 rs62621206 A G 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19868;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon172:c.T68360C:p.L22787P,TTN:NM_133432:exon173:c.T68735C:p.L22912P,TTN:NM_133437:exon173:c.T68936C:p.L22979P,TTN:NM_133378:exon293:c.T87851C:p.L29284P,TTN:NM_001256850:exon294:c.T90632C:p.L30211P,TTN:NM_001267550:exon344:c.T95555C:p.L31852P;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621206;CLNALLELEID=56723;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.144;SIFT_converted_rankscore=0.252;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.522;Polyphen2_HVAR_rankscore=0.465;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.05;MutationAssessor_score_rankscore=0.269;MutationAssessor_pred=L;FATHMM_score=0.47;FATHMM_converted_rankscore=0.561;FATHMM_pred=T;PROVEAN_score=-4.39;PROVEAN_converted_rankscore=0.772;PROVEAN_pred=D;VEST3_score=0.489;VEST3_rankscore=0.559;MetaSVM_score=-0.931;MetaSVM_rankscore=0.440;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.345;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.442;CADD_raw_rankscore=0.355;CADD_phred=19.09;DANN_score=0.963;DANN_rankscore=0.289;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_rankscore=0.575;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.300;Eigen-PC-raw=0.343;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.338;integrated_fitCons_score=0.461;integrated_fitCons_score_rankscore=0.090;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=3.591;phyloP100way_vertebrate_rankscore=0.535;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=11.993;SiPhy_29way_logOdds_rankscore=0.523;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0159;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0158;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0028;AF=0.0102;AF_popmax=0.0143;AF_male=0.0104;AF_female=0.0099;AF_raw=0.0102;AF_afr=0.0039;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0104;AF_asj=0.0207;AF_oth=0.0092;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0104979;Kaviar_AC=1623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.023311;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410468 rs147802147 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23129;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147802147;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0232;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035446;Kaviar_AC=548;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410666 rs191484894 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21235;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191484894;CLNALLELEID=56719;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.585;MutationAssessor_score_rankscore=0.400;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-4.0;PROVEAN_converted_rankscore=0.807;PROVEAN_pred=D;VEST3_score=0.427;VEST3_rankscore=0.582;MetaSVM_score=-0.126;MetaSVM_rankscore=0.795;MetaSVM_pred=T;MetaLR_score=0.442;MetaLR_rankscore=0.780;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.466;REVEL_rankscore=0.764;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.870;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.973;DANN_rankscore=0.325;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.843;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.843;Eigen-PC-raw=0.802;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=8.055;phyloP100way_vertebrate_rankscore=0.892;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.896;phastCons20way_mammalian_rankscore=0.378;SiPhy_29way_logOdds=20.109;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.604288;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410704 rs72648258 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21286;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68064T:p.L22688L,TTN:NM_133432:exon172:c.C68439T:p.L22813L,TTN:NM_133437:exon172:c.C68640T:p.L22880L,TTN:NM_133378:exon292:c.C87555T:p.L29185L,TTN:NM_001256850:exon293:c.C90336T:p.L30112L,TTN:NM_001267550:exon343:c.C95259T:p.L31753L;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648258;CLNALLELEID=56718;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0108;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0118;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0030;AF=0.0068;AF_popmax=0.0104;AF_male=0.0065;AF_female=0.0073;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.115024;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410815 rs140663434 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21852;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C67953T:p.T22651T,TTN:NM_133432:exon172:c.C68328T:p.T22776T,TTN:NM_133437:exon172:c.C68529T:p.T22843T,TTN:NM_133378:exon292:c.C87444T:p.T29148T,TTN:NM_001256850:exon293:c.C90225T:p.T30075T,TTN:NM_001267550:exon343:c.C95148T:p.T31716T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140663434;CLNALLELEID=56714;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040376;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411011 rs72648257 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23533;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.A67852G:p.S22618G,TTN:NM_133432:exon171:c.A68227G:p.S22743G,TTN:NM_133437:exon171:c.A68428G:p.S22810G,TTN:NM_133378:exon291:c.A87343G:p.S29115G,TTN:NM_001256850:exon292:c.A90124G:p.S30042G,TTN:NM_001267550:exon342:c.A95047G:p.S31683G;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648257;CLNALLELEID=56711;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.245;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.63;Polyphen2_HVAR_rankscore=0.499;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.507;MutationTaster_converted_rankscore=0.318;MutationTaster_pred=D;MutationAssessor_score=0.775;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=-0.38;FATHMM_converted_rankscore=0.690;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_converted_rankscore=0.605;PROVEAN_pred=D;VEST3_score=0.135;VEST3_rankscore=0.171;MetaSVM_score=-0.637;MetaSVM_rankscore=0.633;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.158;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.667;CADD_raw_rankscore=0.262;CADD_phred=14.22;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.685;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.521;Eigen-PC-raw=0.539;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.418;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=4.928;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=9.834;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0665;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0554;AF_male=0.0231;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0554;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0561;non_neuro_AF_popmax=0.0554;non_cancer_AF_popmax=.;controls_AF_popmax=0.0482;Kaviar_AF=0.0243658;Kaviar_AC=3767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.009037;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411207 rs72648256 A T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=21582;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648256;CLNALLELEID=56709;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=2.37;MutationAssessor_score_rankscore=0.685;MutationAssessor_pred=M;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-2.75;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.189;VEST3_rankscore=0.303;MetaSVM_score=-0.082;MetaSVM_rankscore=0.805;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_rankscore=0.799;MetaLR_pred=T;M-CAP_score=0.039;M-CAP_rankscore=0.585;M-CAP_pred=D;REVEL_score=0.362;REVEL_rankscore=0.686;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.403;CADD_raw_rankscore=0.350;CADD_phred=18.84;DANN_score=0.935;DANN_rankscore=0.228;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.621;Eigen-PC-raw=0.590;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.429;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.88;GERP++_RS_rankscore=0.630;phyloP100way_vertebrate=4.287;phyloP100way_vertebrate_rankscore=0.586;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.145;SiPhy_29way_logOdds_rankscore=0.359;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0014;AF=0.0020;AF_popmax=0.0059;AF_male=0.0015;AF_female=0.0026;AF_raw=0.0020;AF_afr=0.0002;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0003;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0029236;Kaviar_AC=452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.551689;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411212 rs72648255 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21850;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.C67651T:p.L22551L,TTN:NM_133432:exon171:c.C68026T:p.L22676L,TTN:NM_133437:exon171:c.C68227T:p.L22743L,TTN:NM_133378:exon291:c.C87142T:p.L29048L,TTN:NM_001256850:exon292:c.C89923T:p.L29975L,TTN:NM_001267550:exon342:c.C94846T:p.L31616L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648255;CLNALLELEID=56708;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0009;AF=0.0009;AF_popmax=0.0014;AF_male=0.0010;AF_female=0.0007;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.603683;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411665 rs2288327 A G 100 PASS AC=41;AF=0.327476;AN=214;NS=2504;DP=24149;EAS_AF=0.63;AMR_AF=0.1988;AFR_AF=0.289;EUR_AF=0.172;SAS_AF=0.319;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.327476;GWAS=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;ORegAnno_REGULATORY_P=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;avsnp150=rs2288327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1683;ExAC_nontcga_ALL=0.2339;ExAC_nontcga_AFR=0.2791;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.6064;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1702;ExAC_nontcga_OTH=0.2204;ExAC_nontcga_SAS=0.3320;AF=0.2252;AF_popmax=0.6101;AF_male=0.2294;AF_female=0.2199;AF_raw=0.2252;AF_afr=0.2812;AF_sas=.;AF_amr=0.2075;AF_eas=0.6101;AF_nfe=0.1720;AF_fin=0.1631;AF_asj=0.1655;AF_oth=0.2123;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6101;non_cancer_AF_popmax=.;controls_AF_popmax=0.6018;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.327476;GWAS=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;ORegAnno_REGULATORY_P=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;avsnp150=rs2288327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1683;ExAC_nontcga_ALL=0.2339;ExAC_nontcga_AFR=0.2791;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.6064;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1702;ExAC_nontcga_OTH=0.2204;ExAC_nontcga_SAS=0.3320;AF=0.2252;AF_popmax=0.6101;AF_male=0.2294;AF_female=0.2199;AF_raw=0.2252;AF_afr=0.2812;AF_sas=.;AF_amr=0.2075;AF_eas=0.6101;AF_nfe=0.1720;AF_fin=0.1631;AF_asj=0.1655;AF_oth=0.2123;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6101;non_cancer_AF_popmax=.;controls_AF_popmax=0.6018;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179412966 rs35445420 G A 100 PASS AC=3;AF=0.00898562;AN=214;NS=2504;DP=22476;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0229;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66192T:p.S22064S,TTN:NM_133432:exon168:c.C66567T:p.S22189S,TTN:NM_133437:exon168:c.C66768T:p.S22256S,TTN:NM_133378:exon288:c.C85683T:p.S28561S,TTN:NM_001256850:exon289:c.C88464T:p.S29488S,TTN:NM_001267550:exon339:c.C93387T:p.S31129S;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35445420;CLNALLELEID=56696;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0284;ExAC_nontcga_ALL=0.0208;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0131;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0278;ExAC_nontcga_NFE=0.0322;ExAC_nontcga_OTH=0.0246;ExAC_nontcga_SAS=0.0043;AF=0.0213;AF_popmax=0.0315;AF_male=0.0202;AF_female=0.0226;AF_raw=0.0213;AF_afr=0.0045;AF_sas=.;AF_amr=0.0236;AF_eas=0.0006;AF_nfe=0.0315;AF_fin=0.0259;AF_asj=0.0035;AF_oth=0.0285;non_topmed_AF_popmax=0.0320;non_neuro_AF_popmax=0.0320;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0213839;Kaviar_AC=3306;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.418712;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179413110 rs3731748 G A 100 PASS AC=26;AF=0.234225;AN=214;NS=2504;DP=23794;EAS_AF=0.4514;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1382;SAS_AF=0.2802;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A;1000g2015aug_all=0.234225;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731748;CLNALLELEID=56694;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1460;ExAC_nontcga_ALL=0.1873;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.1532;ExAC_nontcga_EAS=0.4320;ExAC_nontcga_FIN=0.1479;ExAC_nontcga_NFE=0.1474;ExAC_nontcga_OTH=0.1739;ExAC_nontcga_SAS=0.2661;AF=0.1643;AF_popmax=0.4408;AF_male=0.1649;AF_female=0.1636;AF_raw=0.1643;AF_afr=0.1418;AF_sas=.;AF_amr=0.1627;AF_eas=0.4408;AF_nfe=0.1529;AF_fin=0.1490;AF_asj=0.1207;AF_oth=0.1765;non_topmed_AF_popmax=0.4401;non_neuro_AF_popmax=0.4408;non_cancer_AF_popmax=.;controls_AF_popmax=0.4322;Kaviar_AF=0.174946;Kaviar_AC=27047;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.849898;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179413452 rs11694623 G A 100 PASS AC=7;AF=0.0121805;AN=214;NS=2504;DP=23189;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C65706T:p.S21902S,TTN:NM_133432:exon168:c.C66081T:p.S22027S,TTN:NM_133437:exon168:c.C66282T:p.S22094S,TTN:NM_133378:exon288:c.C85197T:p.S28399S,TTN:NM_001256850:exon289:c.C87978T:p.S29326S,TTN:NM_001267550:exon339:c.C92901T:p.S30967S;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11694623;CLNALLELEID=56693;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0315;ExAC_nontcga_ALL=0.0188;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0054;AF=0.0154;AF_popmax=0.0271;AF_male=0.0171;AF_female=0.0132;AF_raw=0.0153;AF_afr=0.0047;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0242;AF_fin=0.0040;AF_asj=0.0276;AF_oth=0.0193;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0200321;Kaviar_AC=3097;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.693281;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179413657 rs373727636 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23097;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.T65501C:p.I21834T,TTN:NM_133432:exon168:c.T65876C:p.I21959T,TTN:NM_133437:exon168:c.T66077C:p.I22026T,TTN:NM_133378:exon288:c.T84992C:p.I28331T,TTN:NM_001256850:exon289:c.T87773C:p.I29258T,TTN:NM_001267550:exon339:c.T92696C:p.I30899T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373727636;CLNALLELEID=173074;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.062;Polyphen2_HDIV_rankscore=0.278;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.968;MutationTaster_converted_rankscore=0.392;MutationTaster_pred=D;MutationAssessor_score=0.465;MutationAssessor_score_rankscore=0.131;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-3.08;PROVEAN_converted_rankscore=0.683;PROVEAN_pred=D;VEST3_score=0.291;VEST3_rankscore=0.414;MetaSVM_score=-0.913;MetaSVM_rankscore=0.465;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.433;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.456;M-CAP_pred=T;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.176;CADD_raw_rankscore=0.323;CADD_phred=17.35;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.961;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.141;Eigen-PC-raw=0.326;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=15.873;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.663835;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414177 rs72648247 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21607;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C64981T:p.P21661S,TTN:NM_133432:exon168:c.C65356T:p.P21786S,TTN:NM_133437:exon168:c.C65557T:p.P21853S,TTN:NM_133378:exon288:c.C84472T:p.P28158S,TTN:NM_001256850:exon289:c.C87253T:p.P29085S,TTN:NM_001267550:exon339:c.C92176T:p.P30726S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648247;CLNALLELEID=56684;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.235;MutationAssessor_score_rankscore=0.980;MutationAssessor_pred=H;FATHMM_score=0.36;FATHMM_converted_rankscore=0.579;FATHMM_pred=T;PROVEAN_score=-5.85;PROVEAN_converted_rankscore=0.934;PROVEAN_pred=D;VEST3_score=0.187;VEST3_rankscore=0.394;MetaSVM_score=0.361;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.542;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.071;M-CAP_rankscore=0.713;M-CAP_pred=D;REVEL_score=0.520;REVEL_rankscore=0.798;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.180;CADD_raw_rankscore=0.323;CADD_phred=17.38;DANN_score=0.911;DANN_rankscore=0.197;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.957;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.049;Eigen-PC-raw=0.936;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=8.146;phyloP100way_vertebrate_rankscore=0.895;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.854;phastCons20way_mammalian_rankscore=0.356;SiPhy_29way_logOdds=20.279;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0050;AF=0.0019;AF_popmax=0.0036;AF_male=0.0019;AF_female=0.0019;AF_raw=0.0019;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.875263;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414318 rs747122 C T 100 PASS AC=10;AF=0.15016;AN=214;NS=2504;DP=21696;EAS_AF=0.0248;AMR_AF=0.1787;AFR_AF=0.2731;EUR_AF=0.0487;SAS_AF=0.1973;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon166:c.G64936A:p.V21646M,TTN:NM_133432:exon167:c.G65311A:p.V21771M,TTN:NM_133437:exon167:c.G65512A:p.V21838M,TTN:NM_133378:exon287:c.G84427A:p.V28143M,TTN:NM_001256850:exon288:c.G87208A:p.V29070M,TTN:NM_001267550:exon338:c.G92131A:p.V30711M;1000g2015aug_all=0.15016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs747122;CLNALLELEID=56683;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.542;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.618;Polyphen2_HVAR_rankscore=0.520;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.003;MutationTaster_converted_rankscore=0.441;MutationTaster_pred=P;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=-2.08;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.233;VEST3_rankscore=0.313;MetaSVM_score=-1.126;MetaSVM_rankscore=0.020;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.226;REVEL_rankscore=0.529;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.929;CADD_raw_rankscore=0.412;CADD_phred=22.0;DANN_score=0.944;DANN_rankscore=0.242;fathmm-MKL_coding_score=0.859;fathmm-MKL_coding_rankscore=0.448;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.548;Eigen-PC-raw=0.570;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.371;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=0.919;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.898;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.858;SiPhy_29way_logOdds_rankscore=0.787;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0950;ExAC_nontcga_AFR=0.2632;ExAC_nontcga_AMR=0.2078;ExAC_nontcga_EAS=0.0238;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0338;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.1834;AF=0.0990;AF_popmax=0.2510;AF_male=0.1011;AF_female=0.0963;AF_raw=0.0992;AF_afr=0.2510;AF_sas=.;AF_amr=0.1804;AF_eas=0.0289;AF_nfe=0.0302;AF_fin=0.0535;AF_asj=0.0310;AF_oth=0.0588;non_topmed_AF_popmax=0.2520;non_neuro_AF_popmax=0.2438;non_cancer_AF_popmax=.;controls_AF_popmax=0.2539;Kaviar_AF=0.0856975;Kaviar_AC=13249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.748916;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414633 rs890578 C A 100 PASS AC=41;AF=0.323482;AN=214;NS=2504;DP=20619;EAS_AF=0.63;AMR_AF=0.1988;AFR_AF=0.2784;EUR_AF=0.171;SAS_AF=0.3139;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs890578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.2291;ExAC_nontcga_AFR=0.2636;ExAC_nontcga_AMR=0.1840;ExAC_nontcga_EAS=0.6039;ExAC_nontcga_FIN=0.1653;ExAC_nontcga_NFE=0.1686;ExAC_nontcga_OTH=0.2218;ExAC_nontcga_SAS=0.3218;AF=0.2208;AF_popmax=0.6057;AF_male=0.2248;AF_female=0.2158;AF_raw=0.2206;AF_afr=0.2662;AF_sas=.;AF_amr=0.2028;AF_eas=0.6057;AF_nfe=0.1721;AF_fin=0.1636;AF_asj=0.1655;AF_oth=0.2098;non_topmed_AF_popmax=0.6044;non_neuro_AF_popmax=0.6057;non_cancer_AF_popmax=.;controls_AF_popmax=0.5989;Kaviar_AF=0.213367;Kaviar_AC=32987;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179414705 rs56145100 A T 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=20212;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56145100;CLNALLELEID=56679;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.114;esp6500siv2_ea=0.0196;ExAC_nontcga_ALL=0.0283;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0355;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0267;ExAC_nontcga_OTH=0.0289;ExAC_nontcga_SAS=0.0084;AF=0.0235;AF_popmax=0.0558;AF_male=0.0231;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0558;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0304;non_topmed_AF_popmax=0.0565;non_neuro_AF_popmax=0.0558;non_cancer_AF_popmax=.;controls_AF_popmax=0.0480;Kaviar_AF=0.0248574;Kaviar_AC=3843;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.211971;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414800 rs148617456 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19806;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148617456;CLNALLELEID=56678;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.041;SIFT_converted_rankscore=0.419;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_score_rankscore=0.294;MutationAssessor_pred=L;FATHMM_score=-0.5;FATHMM_converted_rankscore=0.705;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_converted_rankscore=0.660;PROVEAN_pred=D;VEST3_score=0.318;VEST3_rankscore=0.477;MetaSVM_score=-0.069;MetaSVM_rankscore=0.808;MetaSVM_pred=T;MetaLR_score=0.488;MetaLR_rankscore=0.805;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.416;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.867;CADD_raw_rankscore=0.522;CADD_phred=23.5;DANN_score=0.985;DANN_rankscore=0.414;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.729;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.731;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=4.921;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=20.298;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415013 rs200847757 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19037;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200847757;CLNALLELEID=56674;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0256;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036351;Kaviar_AC=562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415833 rs145133144 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon164:c.C64230T:p.D21410D,TTN:NM_133432:exon165:c.C64605T:p.D21535D,TTN:NM_133437:exon165:c.C64806T:p.D21602D,TTN:NM_133378:exon285:c.C83721T:p.D27907D,TTN:NM_001256850:exon286:c.C86502T:p.D28834D,TTN:NM_001267550:exon336:c.C91425T:p.D30475D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145133144;CLNALLELEID=56672;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0001;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.056252;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415942 rs561319486 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15522;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon164:c.T64121G:p.I21374S,TTN:NM_133432:exon165:c.T64496G:p.I21499S,TTN:NM_133437:exon165:c.T64697G:p.I21566S,TTN:NM_133378:exon285:c.T83612G:p.I27871S,TTN:NM_001256850:exon286:c.T86393G:p.I28798S,TTN:NM_001267550:exon336:c.T91316G:p.I30439S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561319486;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.901;Polyphen2_HDIV_rankscore=0.477;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.583;Polyphen2_HVAR_rankscore=0.484;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=2.905;MutationAssessor_score_rankscore=0.843;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.769;PROVEAN_pred=D;VEST3_score=0.474;VEST3_rankscore=0.766;MetaSVM_score=-0.624;MetaSVM_rankscore=0.639;MetaSVM_pred=T;MetaLR_score=0.233;MetaLR_rankscore=0.600;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.715;M-CAP_pred=D;REVEL_score=0.450;REVEL_rankscore=0.754;MutPred_score=0.621;MutPred_rankscore=0.756;CADD_raw=3.814;CADD_raw_rankscore=0.515;CADD_phred=23.4;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.898;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.643;Eigen-PC-raw=0.709;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.329;SiPhy_29way_logOdds_rankscore=0.828;Interpro_domain=Fibronectin_type_III\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.491e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.531104;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179416556 rs11897366 A C 100 PASS AC=11;AF=0.152356;AN=214;NS=2504;DP=22144;EAS_AF=0.0258;AMR_AF=0.183;AFR_AF=0.2738;EUR_AF=0.0527;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63876G:p.T21292T,TTN:NM_133432:exon164:c.T64251G:p.T21417T,TTN:NM_133437:exon164:c.T64452G:p.T21484T,TTN:NM_133378:exon284:c.T83367G:p.T27789T,TTN:NM_001256850:exon285:c.T86148G:p.T28716T,TTN:NM_001267550:exon335:c.T91071G:p.T30357T;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11897366;CLNALLELEID=56668;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0328;ExAC_nontcga_ALL=0.0959;ExAC_nontcga_AFR=0.2644;ExAC_nontcga_AMR=0.2089;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.1820;AF=0.1004;AF_popmax=0.2525;AF_male=0.1030;AF_female=0.0971;AF_raw=0.1006;AF_afr=0.2525;AF_sas=.;AF_amr=0.1797;AF_eas=0.0283;AF_nfe=0.0319;AF_fin=0.0533;AF_asj=0.0310;AF_oth=0.0639;non_topmed_AF_popmax=0.2536;non_neuro_AF_popmax=0.2454;non_cancer_AF_popmax=.;controls_AF_popmax=0.2558;Kaviar_AF=0.0863702;Kaviar_AC=13353;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.389048;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179416801 rs150430592 A C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23705;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150430592;CLNALLELEID=56665;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.023;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.315;MutationAssessor_score_rankscore=0.103;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-7.8;PROVEAN_converted_rankscore=0.959;PROVEAN_pred=D;VEST3_score=0.507;VEST3_rankscore=0.675;MetaSVM_score=-0.580;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_rankscore=0.617;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.478;REVEL_rankscore=0.772;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.496;CADD_raw_rankscore=0.242;CADD_phred=13.29;DANN_score=0.948;DANN_rankscore=0.250;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.906;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.719;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.075;SiPhy_29way_logOdds_rankscore=0.807;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0224;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035705;Kaviar_AC=552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.689141;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179417091 rs149567378 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=25646;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0286;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149567378;CLNALLELEID=56661;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.565;MutationAssessor_score_rankscore=0.397;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.4;PROVEAN_converted_rankscore=0.714;PROVEAN_pred=D;VEST3_score=0.253;VEST3_rankscore=0.427;MetaSVM_score=-0.204;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.431;MetaLR_rankscore=0.773;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.403;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.757;CADD_raw_rankscore=0.508;CADD_phred=23.3;DANN_score=0.928;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.745;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.711;Eigen-PC-raw=0.714;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.324;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0263;AF=0.0011;AF_popmax=0.0019;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.651739;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179417415 rs146338537 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G63017A:p.G21006D,TTN:NM_133432:exon164:c.G63392A:p.G21131D,TTN:NM_133437:exon164:c.G63593A:p.G21198D,TTN:NM_133378:exon284:c.G82508A:p.G27503D,TTN:NM_001256850:exon285:c.G85289A:p.G28430D,TTN:NM_001267550:exon335:c.G90212A:p.G30071D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146338537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.703;SIFT_converted_rankscore=0.050;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.89;MutationAssessor_score_rankscore=0.014;MutationAssessor_pred=N;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.474;MetaSVM_score=-1.041;MetaSVM_rankscore=0.171;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.262;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.254;M-CAP_pred=T;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.435;CADD_raw_rankscore=0.235;CADD_phred=12.97;DANN_score=0.937;DANN_rankscore=0.229;fathmm-MKL_coding_score=0.125;fathmm-MKL_coding_rankscore=0.171;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.649;Eigen-PC-raw=-0.515;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=0.273;phyloP100way_vertebrate_rankscore=0.183;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=4.419;SiPhy_29way_logOdds_rankscore=0.108;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.482e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.316310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179417633 rs142891278 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=22421;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G62799A:p.S20933S,TTN:NM_133432:exon164:c.G63174A:p.S21058S,TTN:NM_133437:exon164:c.G63375A:p.S21125S,TTN:NM_133378:exon284:c.G82290A:p.S27430S,TTN:NM_001256850:exon285:c.G85071A:p.S28357S,TTN:NM_001267550:exon335:c.G89994A:p.S29998S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142891278;CLNALLELEID=56658;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037063;Kaviar_AC=573;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.539530;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179418144 rs367790760 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22842;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367790760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.179e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=5.728e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179418306 rs72648238 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22276;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon162:c.G62231A:p.R20744Q,TTN:NM_133432:exon163:c.G62606A:p.R20869Q,TTN:NM_133437:exon163:c.G62807A:p.R20936Q,TTN:NM_133378:exon283:c.G81722A:p.R27241Q,TTN:NM_001256850:exon284:c.G84503A:p.R28168Q,TTN:NM_001267550:exon334:c.G89426A:p.R29809Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648238;CLNALLELEID=56653;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.443;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.876;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=2.385;MutationAssessor_score_rankscore=0.689;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-0.81;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.084;MetaSVM_score=-0.752;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_rankscore=0.541;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.647;M-CAP_pred=D;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.208;CADD_raw_rankscore=0.445;CADD_phred=22.7;DANN_score=0.766;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.739;fathmm-MKL_coding_rankscore=0.359;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.198;Eigen-PC-raw=-0.124;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.443;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.156;GERP++_RS_rankscore=0.141;phyloP100way_vertebrate=1.825;phyloP100way_vertebrate_rankscore=0.385;phyloP20way_mammalian=-0.170;phyloP20way_mammalian_rankscore=0.106;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=10.889;SiPhy_29way_logOdds_rankscore=0.460;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.550306;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179419342 rs539906386 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon160:c.C61537T:p.R20513C,TTN:NM_133432:exon161:c.C61912T:p.R20638C,TTN:NM_133437:exon161:c.C62113T:p.R20705C,TTN:NM_133378:exon281:c.C81028T:p.R27010C,TTN:NM_001256850:exon282:c.C83809T:p.R27937C,TTN:NM_001267550:exon332:c.C88732T:p.R29578C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539906386;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-5.6;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.416;VEST3_rankscore=0.557;MetaSVM_score=-0.010;MetaSVM_rankscore=0.821;MetaSVM_pred=T;MetaLR_score=0.433;MetaLR_rankscore=0.774;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.669;M-CAP_pred=D;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=0.576;MutPred_rankscore=0.701;CADD_raw=4.209;CADD_raw_rankscore=0.564;CADD_phred=23.9;DANN_score=0.959;DANN_rankscore=0.275;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.628;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.912;Eigen-PC-raw=0.852;GenoCanyon_score=0.973;GenoCanyon_score_rankscore=0.294;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=3.218;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.836;phastCons20way_mammalian_rankscore=0.349;SiPhy_29way_logOdds=14.892;SiPhy_29way_logOdds_rankscore=0.701;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.478e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.504981;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179419792 rs146181116 G A 100 PASS AC=3;AF=0.00179712;AN=214;NS=2504;DP=16369;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon159:c.C61199T:p.S20400F,TTN:NM_133432:exon160:c.C61574T:p.S20525F,TTN:NM_133437:exon160:c.C61775T:p.S20592F,TTN:NM_133378:exon280:c.C80690T:p.S26897F,TTN:NM_001256850:exon281:c.C83471T:p.S27824F,TTN:NM_001267550:exon331:c.C88394T:p.S29465F;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146181116;CLNALLELEID=56641;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.552;SIFT_converted_rankscore=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.739;Polyphen2_HVAR_rankscore=0.538;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.465;MutationTaster_pred=D;MutationAssessor_score=1.805;MutationAssessor_score_rankscore=0.477;MutationAssessor_pred=L;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-3.68;PROVEAN_converted_rankscore=0.732;PROVEAN_pred=D;VEST3_score=0.389;VEST3_rankscore=0.460;MetaSVM_score=-0.359;MetaSVM_rankscore=0.733;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_rankscore=0.675;MetaLR_pred=T;M-CAP_score=0.042;M-CAP_rankscore=0.606;M-CAP_pred=D;REVEL_score=0.331;REVEL_rankscore=0.657;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.106;CADD_raw_rankscore=0.433;CADD_phred=22.5;DANN_score=0.984;DANN_rankscore=0.405;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.549;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.625;Eigen-PC-raw=0.647;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.448;integrated_fitCons_score=0.523;integrated_fitCons_score_rankscore=0.210;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=2.179;phyloP100way_vertebrate_rankscore=0.419;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.104;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0048;AF_popmax=0.0076;AF_male=0.0045;AF_female=0.0052;AF_raw=0.0049;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0076;AF_fin=0.0055;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0079;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0028201;Kaviar_AC=436;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.072213;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179421609 rs9808036 C T 100 PASS AC=10;AF=0.0842652;AN=214;NS=2504;DP=22559;EAS_AF=0.0248;AMR_AF=0.1527;AFR_AF=0.0378;EUR_AF=0.0477;SAS_AF=0.1973;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.G61077A:p.E20359E,TTN:NM_133432:exon159:c.G61452A:p.E20484E,TTN:NM_133437:exon159:c.G61653A:p.E20551E,TTN:NM_133378:exon279:c.G80568A:p.E26856E,TTN:NM_001256850:exon280:c.G83349A:p.E27783E,TTN:NM_001267550:exon330:c.G88272A:p.E29424E;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9808036;CLNALLELEID=56640;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0291;ExAC_nontcga_ALL=0.0747;ExAC_nontcga_AFR=0.0358;ExAC_nontcga_AMR=0.1962;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0328;ExAC_nontcga_OTH=0.0773;ExAC_nontcga_SAS=0.1806;AF=0.0374;AF_popmax=0.1663;AF_male=0.0370;AF_female=0.0378;AF_raw=0.0374;AF_afr=0.0335;AF_sas=.;AF_amr=0.1663;AF_eas=0.0290;AF_nfe=0.0291;AF_fin=0.0532;AF_asj=0.0276;AF_oth=0.0487;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1679;non_cancer_AF_popmax=.;controls_AF_popmax=0.1626;Kaviar_AF=0.066364;Kaviar_AC=10260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.675892;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179421694 rs9808377 A G 100 PASS AC=56;AF=0.507188;AN=214;NS=2504;DP=20211;EAS_AF=0.7153;AMR_AF=0.4049;AFR_AF=0.5666;EUR_AF=0.2495;SAS_AF=0.5501;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.T60992C:p.I20331T,TTN:NM_133432:exon159:c.T61367C:p.I20456T,TTN:NM_133437:exon159:c.T61568C:p.I20523T,TTN:NM_133378:exon279:c.T80483C:p.I26828T,TTN:NM_001256850:exon280:c.T83264C:p.I27755T,TTN:NM_001267550:exon330:c.T88187C:p.I29396T;1000g2015aug_all=0.507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9808377;CLNALLELEID=56639;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=-2.57;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=2.95;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.015;VEST3_rankscore=0.052;MetaSVM_score=-0.881;MetaSVM_rankscore=0.497;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.530;CADD_raw_rankscore=0.054;CADD_phred=0.186;DANN_score=0.536;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.062;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.590;Eigen-PC-raw=-1.483;GenoCanyon_score=0.131;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-2.9;GERP++_RS_rankscore=0.053;phyloP100way_vertebrate=0.721;phyloP100way_vertebrate_rankscore=0.254;phyloP20way_mammalian=-1.254;phyloP20way_mammalian_rankscore=0.015;phastCons100way_vertebrate=0.187;phastCons100way_vertebrate_rankscore=0.239;phastCons20way_mammalian=0.062;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=12.559;SiPhy_29way_logOdds_rankscore=0.554;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2206;ExAC_nontcga_ALL=0.3601;ExAC_nontcga_AFR=0.5459;ExAC_nontcga_AMR=0.4287;ExAC_nontcga_EAS=0.6974;ExAC_nontcga_FIN=0.2765;ExAC_nontcga_NFE=0.2312;ExAC_nontcga_OTH=0.3362;ExAC_nontcga_SAS=0.5202;AF=0.3491;AF_popmax=0.6913;AF_male=0.3553;AF_female=0.3413;AF_raw=0.3496;AF_afr=0.5402;AF_sas=.;AF_amr=0.4078;AF_eas=0.6913;AF_nfe=0.2273;AF_fin=0.2690;AF_asj=0.2345;AF_oth=0.3007;non_topmed_AF_popmax=0.6908;non_neuro_AF_popmax=0.6913;non_cancer_AF_popmax=.;controls_AF_popmax=0.6747;Kaviar_AF=0.33788;Kaviar_AC=52237;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.436715;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179422073 rs551887772 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20345;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon157:c.C60721T:p.L20241F,TTN:NM_133432:exon158:c.C61096T:p.L20366F,TTN:NM_133437:exon158:c.C61297T:p.L20433F,TTN:NM_133378:exon278:c.C80212T:p.L26738F,TTN:NM_001256850:exon279:c.C82993T:p.L27665F,TTN:NM_001267550:exon329:c.C87916T:p.L29306F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551887772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.019;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.488;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=0.41;FATHMM_converted_rankscore=0.571;FATHMM_pred=T;PROVEAN_score=-2.93;PROVEAN_converted_rankscore=0.646;PROVEAN_pred=D;VEST3_score=0.234;VEST3_rankscore=0.378;MetaSVM_score=-0.384;MetaSVM_rankscore=0.726;MetaSVM_pred=T;MetaLR_score=0.321;MetaLR_rankscore=0.690;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.471;M-CAP_pred=T;REVEL_score=0.363;REVEL_rankscore=0.687;MutPred_score=0.598;MutPred_rankscore=0.729;CADD_raw=2.379;CADD_raw_rankscore=0.347;CADD_phred=18.69;DANN_score=0.982;DANN_rankscore=0.386;fathmm-MKL_coding_score=0.905;fathmm-MKL_coding_rankscore=0.515;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.683;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.332;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.9;GERP++_RS_rankscore=0.635;phyloP100way_vertebrate=4.982;phyloP100way_vertebrate_rankscore=0.633;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.249;SiPhy_29way_logOdds_rankscore=0.481;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.873272;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422181 rs141624266 C T 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=19400;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon157:c.G60613A:p.V20205I,TTN:NM_133432:exon158:c.G60988A:p.V20330I,TTN:NM_133437:exon158:c.G61189A:p.V20397I,TTN:NM_133378:exon278:c.G80104A:p.V26702I,TTN:NM_001256850:exon279:c.G82885A:p.V27629I,TTN:NM_001267550:exon329:c.G87808A:p.V29270I;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141624266;CLNALLELEID=56633;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=-1.725;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.060;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.022;MetaSVM_score=-1.033;MetaSVM_rankscore=0.196;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.149;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.139;CADD_raw_rankscore=0.318;CADD_phred=17.11;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.392;fathmm-MKL_coding_rankscore=0.259;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.829;Eigen-PC-raw=-0.620;GenoCanyon_score=0.650;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.411;GERP++_RS_rankscore=0.155;phyloP100way_vertebrate=0.532;phyloP100way_vertebrate_rankscore=0.226;phyloP20way_mammalian=0.149;phyloP20way_mammalian_rankscore=0.237;phastCons100way_vertebrate=0.886;phastCons100way_vertebrate_rankscore=0.309;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=5.395;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0256;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0053;AF=0.0051;AF_popmax=0.0040;AF_male=0.0044;AF_female=0.0061;AF_raw=0.0051;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0242;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.464763;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422286 rs201770959 C A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18741;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201770959;CLNALLELEID=102206;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.044;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0016;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0013;AF_raw=0.0016;AF_afr=0.0004;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0023;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001837;Kaviar_AC=284;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.739189;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422669 rs72648227 G T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=20971;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon156:c.C60217A:p.P20073T,TTN:NM_133432:exon157:c.C60592A:p.P20198T,TTN:NM_133437:exon157:c.C60793A:p.P20265T,TTN:NM_133378:exon277:c.C79708A:p.P26570T,TTN:NM_001256850:exon278:c.C82489A:p.P27497T,TTN:NM_001267550:exon328:c.C87412A:p.P29138T;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648227;CLNALLELEID=56628;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.006;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.82;MutationAssessor_score_rankscore=0.957;MutationAssessor_pred=H;FATHMM_score=-2.12;FATHMM_converted_rankscore=0.863;FATHMM_pred=D;PROVEAN_score=-5.87;PROVEAN_converted_rankscore=0.942;PROVEAN_pred=D;VEST3_score=0.298;VEST3_rankscore=0.451;MetaSVM_score=0.956;MetaSVM_rankscore=0.965;MetaSVM_pred=D;MetaLR_score=0.872;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.183;M-CAP_rankscore=0.857;M-CAP_pred=D;REVEL_score=0.724;REVEL_rankscore=0.904;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.974;CADD_raw_rankscore=0.298;CADD_phred=16.05;DANN_score=0.901;DANN_rankscore=0.188;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.605;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.064;Eigen-PC-raw=0.982;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.63;GERP++_RS_rankscore=0.861;phyloP100way_vertebrate=8.133;phyloP100way_vertebrate_rankscore=0.894;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.040;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0030;AF=0.0007;AF_popmax=0.0007;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010026;Kaviar_AC=155;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.344853;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179422834 rs139099170 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20328;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon156:c.G60052T:p.V20018F,TTN:NM_133432:exon157:c.G60427T:p.V20143F,TTN:NM_133437:exon157:c.G60628T:p.V20210F,TTN:NM_133378:exon277:c.G79543T:p.V26515F,TTN:NM_001256850:exon278:c.G82324T:p.V27442F,TTN:NM_001267550:exon328:c.G87247T:p.V29083F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139099170;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.05;SIFT_converted_rankscore=0.395;SIFT_pred=D;Polyphen2_HDIV_score=0.171;Polyphen2_HDIV_rankscore=0.337;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.095;Polyphen2_HVAR_rankscore=0.375;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.17;MutationAssessor_score_rankscore=0.299;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-2.66;PROVEAN_converted_rankscore=0.595;PROVEAN_pred=D;VEST3_score=0.355;VEST3_rankscore=0.478;MetaSVM_score=-0.840;MetaSVM_rankscore=0.527;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.555;MetaLR_pred=T;M-CAP_score=0.066;M-CAP_rankscore=0.698;M-CAP_pred=D;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.943;CADD_raw_rankscore=0.294;CADD_phred=15.85;DANN_score=0.884;DANN_rankscore=0.174;fathmm-MKL_coding_score=0.098;fathmm-MKL_coding_rankscore=0.153;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.318;Eigen-PC-raw=-0.239;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=3.73;GERP++_RS_rankscore=0.418;phyloP100way_vertebrate=-0.005;phyloP100way_vertebrate_rankscore=0.127;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.040;phastCons100way_vertebrate_rankscore=0.208;phastCons20way_mammalian=0.865;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=7.288;SiPhy_29way_logOdds_rankscore=0.254;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.488e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.338187;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179423099 rs12621078 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=20206;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.T59892C:p.L19964L,TTN:NM_133432:exon156:c.T60267C:p.L20089L,TTN:NM_133437:exon156:c.T60468C:p.L20156L,TTN:NM_133378:exon276:c.T79383C:p.L26461L,TTN:NM_001256850:exon277:c.T82164C:p.L27388L,TTN:NM_001267550:exon327:c.T87087C:p.L29029L;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12621078;CLNALLELEID=56624;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0272;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0359;ExAC_nontcga_EAS=0.0696;ExAC_nontcga_FIN=0.0526;ExAC_nontcga_NFE=0.0264;ExAC_nontcga_OTH=0.0280;ExAC_nontcga_SAS=0.0070;AF=0.0235;AF_popmax=0.0552;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0236;AF_afr=0.0048;AF_sas=.;AF_amr=0.0224;AF_eas=0.0552;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0559;non_neuro_AF_popmax=0.0552;non_cancer_AF_popmax=.;controls_AF_popmax=0.0480;Kaviar_AF=0.0252713;Kaviar_AC=3907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386890;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179423168 rs535863592 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18625;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.A59823G:p.R19941R,TTN:NM_133432:exon156:c.A60198G:p.R20066R,TTN:NM_133437:exon156:c.A60399G:p.R20133R,TTN:NM_133378:exon276:c.A79314G:p.R26438R,TTN:NM_001256850:exon277:c.A82095G:p.R27365R,TTN:NM_001267550:exon327:c.A87018G:p.R29006R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535863592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.558322;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424048 rs55972010 T C 100 PASS AC=9;AF=0.0161741;AN=214;NS=2504;DP=18743;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0015;EUR_AF=0.0368;SAS_AF=0.0286;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A59616G:p.V19872V,TTN:NM_133432:exon155:c.A59991G:p.V19997V,TTN:NM_133437:exon155:c.A60192G:p.V20064V,TTN:NM_133378:exon275:c.A79107G:p.V26369V,TTN:NM_001256850:exon276:c.A81888G:p.V27296V,TTN:NM_001267550:exon326:c.A86811G:p.V28937V;1000g2015aug_all=0.0161741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55972010;CLNALLELEID=56621;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0238;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0263;ExAC_nontcga_NFE=0.0312;ExAC_nontcga_OTH=0.0157;ExAC_nontcga_SAS=0.0335;AF=0.0222;AF_popmax=0.0341;AF_male=0.0216;AF_female=0.0230;AF_raw=0.0222;AF_afr=0.0040;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0341;AF_fin=0.0265;AF_asj=0.0069;AF_oth=0.0304;non_topmed_AF_popmax=0.0366;non_neuro_AF_popmax=0.0339;non_cancer_AF_popmax=.;controls_AF_popmax=0.0395;Kaviar_AF=0.0231562;Kaviar_AC=3580;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.373604;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +2 179424558 rs56310931 C T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=21153;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G59106A:p.K19702K,TTN:NM_133432:exon155:c.G59481A:p.K19827K,TTN:NM_133437:exon155:c.G59682A:p.K19894K,TTN:NM_133378:exon275:c.G78597A:p.K26199K,TTN:NM_001256850:exon276:c.G81378A:p.K27126K,TTN:NM_001267550:exon326:c.G86301A:p.K28767K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56310931;CLNALLELEID=56616;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0169;ExAC_nontcga_NFE=0.0112;ExAC_nontcga_OTH=0.0133;ExAC_nontcga_SAS=0.0064;AF=0.0085;AF_popmax=0.0103;AF_male=0.0084;AF_female=0.0085;AF_raw=0.0085;AF_afr=0.0017;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0199;AF_asj=0.0276;AF_oth=0.0092;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0086351;Kaviar_AC=1335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.078554;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424734 rs562860372 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21373;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G58930A:p.E19644K,TTN:NM_133432:exon155:c.G59305A:p.E19769K,TTN:NM_133437:exon155:c.G59506A:p.E19836K,TTN:NM_133378:exon275:c.G78421A:p.E26141K,TTN:NM_001256850:exon276:c.G81202A:p.E27068K,TTN:NM_001267550:exon326:c.G86125A:p.E28709K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562860372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.019;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_score_rankscore=0.274;MutationAssessor_pred=L;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.618;PROVEAN_pred=D;VEST3_score=0.463;VEST3_rankscore=0.632;MetaSVM_score=-0.542;MetaSVM_rankscore=0.671;MetaSVM_pred=T;MetaLR_score=0.303;MetaLR_rankscore=0.674;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.153;M-CAP_pred=T;REVEL_score=0.392;REVEL_rankscore=0.711;MutPred_score=0.548;MutPred_rankscore=0.663;CADD_raw=4.062;CADD_raw_rankscore=0.545;CADD_phred=23.7;DANN_score=0.956;DANN_rankscore=0.268;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.866;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.809;Eigen-PC-raw=0.837;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=6.125;phyloP100way_vertebrate_rankscore=0.712;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.583;SiPhy_29way_logOdds_rankscore=0.994;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.505e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.252257;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424834 rs369528150 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19452;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G58830A:p.P19610P,TTN:NM_133432:exon155:c.G59205A:p.P19735P,TTN:NM_133437:exon155:c.G59406A:p.P19802P,TTN:NM_133378:exon275:c.G78321A:p.P26107P,TTN:NM_001256850:exon276:c.G81102A:p.P27034P,TTN:NM_001267550:exon326:c.G86025A:p.P28675P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369528150;CLNALLELEID=178112;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.556e-05;AF_popmax=0.0012;AF_male=5.724e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.728468;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179425470 rs144731702 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22278;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C58194T:p.L19398L,TTN:NM_133432:exon155:c.C58569T:p.L19523L,TTN:NM_133437:exon155:c.C58770T:p.L19590L,TTN:NM_133378:exon275:c.C77685T:p.L25895L,TTN:NM_001256850:exon276:c.C80466T:p.L26822L,TTN:NM_001267550:exon326:c.C85389T:p.L28463L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144731702;CLNALLELEID=499158;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.156711;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179425988 rs192152102 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23229;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C57676T:p.R19226C,TTN:NM_133432:exon155:c.C58051T:p.R19351C,TTN:NM_133437:exon155:c.C58252T:p.R19418C,TTN:NM_133378:exon275:c.C77167T:p.R25723C,TTN:NM_001256850:exon276:c.C79948T:p.R26650C,TTN:NM_001267550:exon326:c.C84871T:p.R28291C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192152102;CLNALLELEID=189493;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.938;Polyphen2_HVAR_rankscore=0.656;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.16;MutationAssessor_score_rankscore=0.606;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-5.81;PROVEAN_converted_rankscore=0.899;PROVEAN_pred=D;VEST3_score=0.393;VEST3_rankscore=0.572;MetaSVM_score=-0.430;MetaSVM_rankscore=0.711;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_rankscore=0.677;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.547;M-CAP_pred=D;REVEL_score=0.344;REVEL_rankscore=0.670;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.592;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.878;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.644;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.640;Eigen-PC-raw=0.600;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.305;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=4.766;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.851;SiPhy_29way_logOdds_rankscore=0.400;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0009;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0012;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0.0026;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935487;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426219 rs72648221 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=24922;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A57445G:p.M19149V,TTN:NM_133432:exon155:c.A57820G:p.M19274V,TTN:NM_133437:exon155:c.A58021G:p.M19341V,TTN:NM_133378:exon275:c.A76936G:p.M25646V,TTN:NM_001256850:exon276:c.A79717G:p.M26573V,TTN:NM_001267550:exon326:c.A84640G:p.M28214V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648221;CLNALLELEID=391800;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.284;SIFT_converted_rankscore=0.153;SIFT_pred=T;Polyphen2_HDIV_score=0.065;Polyphen2_HDIV_rankscore=0.220;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.723;MutationTaster_converted_rankscore=0.304;MutationTaster_pred=N;MutationAssessor_score=-0.415;MutationAssessor_score_rankscore=0.029;MutationAssessor_pred=N;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.374;VEST3_rankscore=0.519;MetaSVM_score=-1.011;MetaSVM_rankscore=0.265;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_rankscore=0.272;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.272;M-CAP_pred=T;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.707;CADD_raw_rankscore=0.161;CADD_phred=8.873;DANN_score=0.803;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_rankscore=0.524;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.258;Eigen-PC-raw=-0.022;GenoCanyon_score=0.121;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.84;GERP++_RS_rankscore=0.620;phyloP100way_vertebrate=4.199;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.308;SiPhy_29way_logOdds_rankscore=0.540;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0005;AF_female=0;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.338412;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426596 rs200450022 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=24044;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G57068A:p.S19023N,TTN:NM_133432:exon155:c.G57443A:p.S19148N,TTN:NM_133437:exon155:c.G57644A:p.S19215N,TTN:NM_133378:exon275:c.G76559A:p.S25520N,TTN:NM_001256850:exon276:c.G79340A:p.S26447N,TTN:NM_001267550:exon326:c.G84263A:p.S28088N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200450022;CLNALLELEID=56596;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.138;SIFT_converted_rankscore=0.258;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.484;MutationTaster_pred=D;MutationAssessor_score=0.675;MutationAssessor_score_rankscore=0.164;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_converted_rankscore=0.404;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.203;MetaSVM_score=-0.962;MetaSVM_rankscore=0.388;MetaSVM_pred=T;MetaLR_score=0.136;MetaLR_rankscore=0.452;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.249;M-CAP_pred=T;REVEL_score=0.057;REVEL_rankscore=0.167;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.154;CADD_raw_rankscore=0.320;CADD_phred=17.21;DANN_score=0.800;DANN_rankscore=0.126;fathmm-MKL_coding_score=0.851;fathmm-MKL_coding_rankscore=0.439;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.047;Eigen-PC-raw=0.148;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.303;integrated_fitCons_score=0.578;integrated_fitCons_score_rankscore=0.323;integrated_confidence_value=0;GERP++_RS=5.28;GERP++_RS_rankscore=0.740;phyloP100way_vertebrate=3.735;phyloP100way_vertebrate_rankscore=0.545;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.954;SiPhy_29way_logOdds_rankscore=0.796;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.466657;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426682 rs141559873 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=24185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56982G:p.P18994P,TTN:NM_133432:exon155:c.A57357G:p.P19119P,TTN:NM_133437:exon155:c.A57558G:p.P19186P,TTN:NM_133378:exon275:c.A76473G:p.P25491P,TTN:NM_001256850:exon276:c.A79254G:p.P26418P,TTN:NM_001267550:exon326:c.A84177G:p.P28059P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141559873;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.565e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.480377;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179427186 rs2366751 A G 100 PASS AC=57;AF=0.508786;AN=214;NS=2504;DP=21523;EAS_AF=0.7153;AMR_AF=0.4078;AFR_AF=0.5673;EUR_AF=0.2535;SAS_AF=0.5511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T56478C:p.G18826G,TTN:NM_133432:exon155:c.T56853C:p.G18951G,TTN:NM_133437:exon155:c.T57054C:p.G19018G,TTN:NM_133378:exon275:c.T75969C:p.G25323G,TTN:NM_001256850:exon276:c.T78750C:p.G26250G,TTN:NM_001267550:exon326:c.T83673C:p.G27891G;1000g2015aug_all=0.508786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2366751;CLNALLELEID=56593;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2228;ExAC_nontcga_ALL=0.3608;ExAC_nontcga_AFR=0.5462;ExAC_nontcga_AMR=0.4299;ExAC_nontcga_EAS=0.6947;ExAC_nontcga_FIN=0.2763;ExAC_nontcga_NFE=0.2325;ExAC_nontcga_OTH=0.3372;ExAC_nontcga_SAS=0.5204;AF=0.3500;AF_popmax=0.6920;AF_male=0.3564;AF_female=0.3420;AF_raw=0.3504;AF_afr=0.5400;AF_sas=.;AF_amr=0.4104;AF_eas=0.6920;AF_nfe=0.2291;AF_fin=0.2693;AF_asj=0.2345;AF_oth=0.3029;non_topmed_AF_popmax=0.6915;non_neuro_AF_popmax=0.6920;non_cancer_AF_popmax=.;controls_AF_popmax=0.6788;Kaviar_AF=0.337078;Kaviar_AC=52113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.378453;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179427536 rs3829746 T C 100 PASS AC=57;AF=0.508387;AN=214;NS=2504;DP=21726;EAS_AF=0.7153;AMR_AF=0.4078;AFR_AF=0.5658;EUR_AF=0.2535;SAS_AF=0.5511;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56128G:p.I18710V,TTN:NM_133432:exon155:c.A56503G:p.I18835V,TTN:NM_133437:exon155:c.A56704G:p.I18902V,TTN:NM_133378:exon275:c.A75619G:p.I25207V,TTN:NM_001256850:exon276:c.A78400G:p.I26134V,TTN:NM_001267550:exon326:c.A83323G:p.I27775V;1000g2015aug_all=0.508387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829746;CLNALLELEID=56589;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.971;MutationTaster_converted_rankscore=0.256;MutationTaster_pred=P;MutationAssessor_score=-0.54;MutationAssessor_score_rankscore=0.025;MutationAssessor_pred=N;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=0.4;PROVEAN_converted_rankscore=0.035;PROVEAN_pred=N;VEST3_score=0.024;VEST3_rankscore=0.013;MetaSVM_score=-0.971;MetaSVM_rankscore=0.370;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.117;REVEL_rankscore=0.332;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.936;CADD_raw_rankscore=0.183;CADD_phred=10.29;DANN_score=0.862;DANN_rankscore=0.159;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.077;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.692;Eigen-PC-raw=-0.479;GenoCanyon_score=0.095;GenoCanyon_score_rankscore=0.162;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.15;GERP++_RS_rankscore=0.702;phyloP100way_vertebrate=0.477;phyloP100way_vertebrate_rankscore=0.217;phyloP20way_mammalian=-0.302;phyloP20way_mammalian_rankscore=0.080;phastCons100way_vertebrate=0.093;phastCons100way_vertebrate_rankscore=0.224;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=9.630;SiPhy_29way_logOdds_rankscore=0.387;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2229;ExAC_nontcga_ALL=0.3631;ExAC_nontcga_AFR=0.5502;ExAC_nontcga_AMR=0.4328;ExAC_nontcga_EAS=0.6984;ExAC_nontcga_FIN=0.2760;ExAC_nontcga_NFE=0.2347;ExAC_nontcga_OTH=0.3443;ExAC_nontcga_SAS=0.5210;AF=0.3499;AF_popmax=0.6931;AF_male=0.3564;AF_female=0.3418;AF_raw=0.3504;AF_afr=0.5394;AF_sas=.;AF_amr=0.4104;AF_eas=0.6931;AF_nfe=0.2291;AF_fin=0.2691;AF_asj=0.2345;AF_oth=0.3026;non_topmed_AF_popmax=0.6927;non_neuro_AF_popmax=0.6931;non_cancer_AF_popmax=.;controls_AF_popmax=0.68;Kaviar_AF=0.337777;Kaviar_AC=52221;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.753193;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179428119 rs56345408 C T 100 PASS AC=4;AF=0.00778754;AN=214;NS=2504;DP=21754;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0266;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G55545A:p.T18515T,TTN:NM_133432:exon155:c.G55920A:p.T18640T,TTN:NM_133437:exon155:c.G56121A:p.T18707T,TTN:NM_133378:exon275:c.G75036A:p.T25012T,TTN:NM_001256850:exon276:c.G77817A:p.T25939T,TTN:NM_001267550:exon326:c.G82740A:p.T27580T;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56345408;CLNALLELEID=56582;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0171;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0227;AF=0.0072;AF_popmax=0.0098;AF_male=0.0065;AF_female=0.0082;AF_raw=0.0073;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0150;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0081629;Kaviar_AC=1262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.961404;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179428299 rs56264840 G T 100 PASS AC=2;AF=0.00579073;AN=214;NS=2504;DP=23055;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56264840;CLNALLELEID=56579;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.503;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-4.57;PROVEAN_converted_rankscore=0.796;PROVEAN_pred=D;VEST3_score=0.178;VEST3_rankscore=0.238;MetaSVM_score=-0.467;MetaSVM_rankscore=0.698;MetaSVM_pred=T;MetaLR_score=0.323;MetaLR_rankscore=0.692;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.417;REVEL_rankscore=0.730;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.633;CADD_raw_rankscore=0.258;CADD_phred=14.03;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.448;Eigen-PC-raw=0.379;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.118;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.79;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=3.299;phyloP100way_vertebrate_rankscore=0.513;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.167;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0224;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.365337;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429004 rs56214710 G A 100 PASS AC=3;AF=0.0221645;AN=214;NS=2504;DP=21282;EAS_AF=0.0585;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C54660T:p.I18220I,TTN:NM_133432:exon155:c.C55035T:p.I18345I,TTN:NM_133437:exon155:c.C55236T:p.I18412I,TTN:NM_133378:exon275:c.C74151T:p.I24717I,TTN:NM_001256850:exon276:c.C76932T:p.I25644I,TTN:NM_001267550:exon326:c.C81855T:p.I27285I;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56214710;CLNALLELEID=56567;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0264;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0639;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0256;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0232;AF_popmax=0.0516;AF_male=0.0228;AF_female=0.0238;AF_raw=0.0232;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0516;AF_nfe=0.0238;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0304;non_topmed_AF_popmax=0.0522;non_neuro_AF_popmax=0.0516;non_cancer_AF_popmax=.;controls_AF_popmax=0.0450;Kaviar_AF=0.0243399;Kaviar_AC=3763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.521228;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429301 rs56181243 A G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=21976;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54363C:p.N18121N,TTN:NM_133432:exon155:c.T54738C:p.N18246N,TTN:NM_133437:exon155:c.T54939C:p.N18313N,TTN:NM_133378:exon275:c.T73854C:p.N24618N,TTN:NM_001256850:exon276:c.T76635C:p.N25545N,TTN:NM_001267550:exon326:c.T81558C:p.N27186N;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56181243;CLNALLELEID=56564;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0103;ExAC_nontcga_SAS=0.0043;AF=0.0055;AF_popmax=0.0047;AF_male=0.0061;AF_female=0.0047;AF_raw=0.0055;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0242;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0039;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.005194;Kaviar_AC=803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.694037;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429612 rs186273940 A G 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=21196;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54052C:p.S18018P,TTN:NM_133432:exon155:c.T54427C:p.S18143P,TTN:NM_133437:exon155:c.T54628C:p.S18210P,TTN:NM_133378:exon275:c.T73543C:p.S24515P,TTN:NM_001256850:exon276:c.T76324C:p.S25442P,TTN:NM_001267550:exon326:c.T81247C:p.S27083P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186273940;CLNALLELEID=102201;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.041;SIFT_converted_rankscore=0.419;SIFT_pred=D;Polyphen2_HDIV_score=0.784;Polyphen2_HDIV_rankscore=0.424;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.575;Polyphen2_HVAR_rankscore=0.482;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.285;MutationAssessor_score_rankscore=0.654;MutationAssessor_pred=M;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_converted_rankscore=0.686;PROVEAN_pred=D;VEST3_score=0.473;VEST3_rankscore=0.576;MetaSVM_score=-0.811;MetaSVM_rankscore=0.545;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.511;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.512;M-CAP_pred=D;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.929;CADD_raw_rankscore=0.293;CADD_phred=15.76;DANN_score=0.892;DANN_rankscore=0.180;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.533;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.269;Eigen-PC-raw=0.312;GenoCanyon_score=0.036;GenoCanyon_score_rankscore=0.143;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.85;GERP++_RS_rankscore=0.622;phyloP100way_vertebrate=1.437;phyloP100way_vertebrate_rankscore=0.344;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=4.083;SiPhy_29way_logOdds_rankscore=0.093;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.112428;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430060 rs3813247 G T 100 PASS AC=3;AF=0.0221645;AN=214;NS=2504;DP=21529;EAS_AF=0.0595;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C53604A:p.T17868T,TTN:NM_133432:exon155:c.C53979A:p.T17993T,TTN:NM_133437:exon155:c.C54180A:p.T18060T,TTN:NM_133378:exon275:c.C73095A:p.T24365T,TTN:NM_001256850:exon276:c.C75876A:p.T25292T,TTN:NM_001267550:exon326:c.C80799A:p.T26933T;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813247;CLNALLELEID=56557;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.0654;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0557;AF_male=0.0231;AF_female=0.0239;AF_raw=0.0234;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0557;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0564;non_neuro_AF_popmax=0.0557;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0251484;Kaviar_AC=3888;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.002088;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430105 rs556581025 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G53559A:p.E17853E,TTN:NM_133432:exon155:c.G53934A:p.E17978E,TTN:NM_133437:exon155:c.G54135A:p.E18045E,TTN:NM_133378:exon275:c.G73050A:p.E24350E,TTN:NM_001256850:exon276:c.G75831A:p.E25277E,TTN:NM_001267550:exon326:c.G80754A:p.E26918E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556581025;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.483e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.614760;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +2 179430137 rs573877174 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21845;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A53527C:p.R17843R,TTN:NM_133432:exon155:c.A53902C:p.R17968R,TTN:NM_133437:exon155:c.A54103C:p.R18035R,TTN:NM_133378:exon275:c.A73018C:p.R24340R,TTN:NM_001256850:exon276:c.A75799C:p.R25267R,TTN:NM_001267550:exon326:c.A80722C:p.R26908R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573877174;CLNALLELEID=141511;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0024;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.233752;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430997 rs3731746 G A 100 PASS AC=41;AF=0.342252;AN=214;NS=2504;DP=22404;EAS_AF=0.629;AMR_AF=0.2061;AFR_AF=0.3442;EUR_AF=0.171;SAS_AF=0.317;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C52667T:p.T17556M,TTN:NM_133432:exon155:c.C53042T:p.T17681M,TTN:NM_133437:exon155:c.C53243T:p.T17748M,TTN:NM_133378:exon275:c.C72158T:p.T24053M,TTN:NM_001256850:exon276:c.C74939T:p.T24980M,TTN:NM_001267550:exon326:c.C79862T:p.T26621M;1000g2015aug_all=0.342252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731746;CLNALLELEID=56547;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.914;Polyphen2_HDIV_rankscore=0.485;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.636;Polyphen2_HVAR_rankscore=0.501;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.014;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_score_rankscore=0.631;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-3.2;PROVEAN_converted_rankscore=0.685;PROVEAN_pred=D;VEST3_score=0.272;VEST3_rankscore=0.345;MetaSVM_score=-0.884;MetaSVM_rankscore=0.495;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.294;CADD_raw_rankscore=0.337;CADD_phred=18.13;DANN_score=0.867;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.508;GenoCanyon_score=0.160;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.03;GERP++_RS_rankscore=0.669;phyloP100way_vertebrate=3.022;phyloP100way_vertebrate_rankscore=0.491;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.940;phastCons20way_mammalian_rankscore=0.414;SiPhy_29way_logOdds=11.788;SiPhy_29way_logOdds_rankscore=0.511;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1669;ExAC_nontcga_ALL=0.2386;ExAC_nontcga_AFR=0.3368;ExAC_nontcga_AMR=0.1871;ExAC_nontcga_EAS=0.6047;ExAC_nontcga_FIN=0.1652;ExAC_nontcga_NFE=0.1697;ExAC_nontcga_OTH=0.2232;ExAC_nontcga_SAS=0.3077;AF=0.2403;AF_popmax=0.6091;AF_male=0.2453;AF_female=0.2340;AF_raw=0.2405;AF_afr=0.3360;AF_sas=.;AF_amr=0.2116;AF_eas=0.6091;AF_nfe=0.1717;AF_fin=0.1630;AF_asj=0.1655;AF_oth=0.2118;non_topmed_AF_popmax=0.6079;non_neuro_AF_popmax=0.6091;non_cancer_AF_popmax=.;controls_AF_popmax=0.6020;Kaviar_AF=0.223128;Kaviar_AC=34496;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.147702;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179431076 rs56307213 C G 100 PASS AC=8;AF=0.00738818;AN=214;NS=2504;DP=21238;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G52588C:p.D17530H,TTN:NM_133432:exon155:c.G52963C:p.D17655H,TTN:NM_133437:exon155:c.G53164C:p.D17722H,TTN:NM_133378:exon275:c.G72079C:p.D24027H,TTN:NM_001256850:exon276:c.G74860C:p.D24954H,TTN:NM_001267550:exon326:c.G79783C:p.D26595H;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56307213;CLNALLELEID=56545;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.87;MutationAssessor_score_rankscore=0.960;MutationAssessor_pred=H;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-5.13;PROVEAN_converted_rankscore=0.870;PROVEAN_pred=D;VEST3_score=0.319;VEST3_rankscore=0.567;MetaSVM_score=0.121;MetaSVM_rankscore=0.846;MetaSVM_pred=D;MetaLR_score=0.377;MetaLR_rankscore=0.735;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.689;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.573;CADD_raw_rankscore=0.370;CADD_phred=19.93;DANN_score=0.870;DANN_rankscore=0.164;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.891;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.026;Eigen-PC-raw=0.967;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.301;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0200;ExAC_nontcga_ALL=0.0141;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0252;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0106;AF=0.0162;AF_popmax=0.0248;AF_male=0.0148;AF_female=0.0180;AF_raw=0.0162;AF_afr=0.0036;AF_sas=.;AF_amr=0.0059;AF_eas=0.0013;AF_nfe=0.0248;AF_fin=0.0204;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0262;non_neuro_AF_popmax=0.0252;non_cancer_AF_popmax=.;controls_AF_popmax=0.0315;Kaviar_AF=0.0144112;Kaviar_AC=2228;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079100;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179431594 rs3731745 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=16962;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T52070C:p.I17357T,TTN:NM_133432:exon155:c.T52445C:p.I17482T,TTN:NM_133437:exon155:c.T52646C:p.I17549T,TTN:NM_133378:exon275:c.T71561C:p.I23854T,TTN:NM_001256850:exon276:c.T74342C:p.I24781T,TTN:NM_001267550:exon326:c.T79265C:p.I26422T;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731745;CLNALLELEID=56538;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_rankscore=0.591;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_converted_rankscore=0.710;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.499;MetaSVM_score=-0.983;MetaSVM_rankscore=0.344;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_rankscore=0.123;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.404;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.803;CADD_raw_rankscore=0.278;CADD_phred=15.00;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.839;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.618;Eigen-PC-raw=0.616;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.329;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.58;GERP++_RS_rankscore=0.559;phyloP100way_vertebrate=9.268;phyloP100way_vertebrate_rankscore=0.948;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=12.393;SiPhy_29way_logOdds_rankscore=0.545;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0672;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0234;AF_popmax=0.0546;AF_male=0.0230;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0546;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0553;non_neuro_AF_popmax=0.0546;non_cancer_AF_popmax=.;controls_AF_popmax=0.0486;Kaviar_AF=0.0250967;Kaviar_AC=3880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.772015;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179431797 rs3731744 A T 100 PASS AC=15;AF=0.0926518;AN=214;NS=2504;DP=19295;EAS_AF=0.1766;AMR_AF=0.0418;AFR_AF=0.1331;EUR_AF=0.0328;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51867A:p.G17289G,TTN:NM_133432:exon155:c.T52242A:p.G17414G,TTN:NM_133437:exon155:c.T52443A:p.G17481G,TTN:NM_133378:exon275:c.T71358A:p.G23786G,TTN:NM_001256850:exon276:c.T74139A:p.G24713G,TTN:NM_001267550:exon326:c.T79062A:p.G26354G;1000g2015aug_all=0.0926518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731744;CLNALLELEID=56535;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0471;ExAC_nontcga_AFR=0.1253;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.1723;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0223;ExAC_nontcga_OTH=0.0464;ExAC_nontcga_SAS=0.0524;AF=0.0574;AF_popmax=0.1662;AF_male=0.0612;AF_female=0.0525;AF_raw=0.0574;AF_afr=0.1287;AF_sas=.;AF_amr=0.0426;AF_eas=0.1662;AF_nfe=0.0187;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0331;non_topmed_AF_popmax=0.1658;non_neuro_AF_popmax=0.1662;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.0441391;Kaviar_AC=6824;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.244511;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179432004 rs139953862 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19890;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51660C:p.D17220D,TTN:NM_133432:exon155:c.T52035C:p.D17345D,TTN:NM_133437:exon155:c.T52236C:p.D17412D,TTN:NM_133378:exon275:c.T71151C:p.D23717D,TTN:NM_001256850:exon276:c.T73932C:p.D24644D,TTN:NM_001267550:exon326:c.T78855C:p.D26285D;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139953862;CLNALLELEID=173121;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.372e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.118295;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179432185 rs12463674 A G 100 PASS AC=52;AF=0.129992;AN=214;NS=2504;DP=22267;EAS_AF=0.0427;AMR_AF=0.1124;AFR_AF=0.0053;EUR_AF=0.3091;SAS_AF=0.2168;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51479C:p.I17160T,TTN:NM_133432:exon155:c.T51854C:p.I17285T,TTN:NM_133437:exon155:c.T52055C:p.I17352T,TTN:NM_133378:exon275:c.T70970C:p.I23657T,TTN:NM_001256850:exon276:c.T73751C:p.I24584T,TTN:NM_001267550:exon326:c.T78674C:p.I26225T;1000g2015aug_all=0.129992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12463674;CLNALLELEID=56532;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.056;SIFT_converted_rankscore=0.400;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_rankscore=0.431;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_rankscore=0.348;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=P;MutationAssessor_score=2.59;MutationAssessor_score_rankscore=0.760;MutationAssessor_pred=M;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-3.23;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.336;VEST3_rankscore=0.646;MetaSVM_score=-1.099;MetaSVM_rankscore=0.043;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.438;REVEL_rankscore=0.745;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.368;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_rankscore=0.562;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.449;Eigen-PC-raw=0.515;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.351;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=6.005;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.874;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000270574.1|ENSG00000270574.1;GTEx_V6p_tissue=Esophagus_Muscularis|Heart_Left_Ventricle;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3030;ExAC_nontcga_ALL=0.2334;ExAC_nontcga_AFR=0.0463;ExAC_nontcga_AMR=0.0979;ExAC_nontcga_EAS=0.0413;ExAC_nontcga_FIN=0.3982;ExAC_nontcga_NFE=0.3015;ExAC_nontcga_OTH=0.2660;ExAC_nontcga_SAS=0.2201;AF=0.2356;AF_popmax=0.3247;AF_male=0.2274;AF_female=0.2459;AF_raw=0.2358;AF_afr=0.0510;AF_sas=.;AF_amr=0.1351;AF_eas=0.0492;AF_nfe=0.3247;AF_fin=0.3935;AF_asj=0.1966;AF_oth=0.3015;non_topmed_AF_popmax=0.3344;non_neuro_AF_popmax=0.3218;non_cancer_AF_popmax=.;controls_AF_popmax=0.3510;Kaviar_AF=0.23653;Kaviar_AC=36568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.904737;ALLELE_END GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179433221 rs56018860 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23267;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50443G:p.T16815A,TTN:NM_133432:exon155:c.A50818G:p.T16940A,TTN:NM_133437:exon155:c.A51019G:p.T17007A,TTN:NM_133378:exon275:c.A69934G:p.T23312A,TTN:NM_001256850:exon276:c.A72715G:p.T24239A,TTN:NM_001267550:exon326:c.A77638G:p.T25880A;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56018860;CLNALLELEID=56524;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.304;SIFT_converted_rankscore=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=N;MutationAssessor_score=1.37;MutationAssessor_score_rankscore=0.343;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-2.27;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.144;VEST3_rankscore=0.219;MetaSVM_score=-0.950;MetaSVM_rankscore=0.411;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.098;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.167;CADD_raw_rankscore=0.110;CADD_phred=4.328;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.642;fathmm-MKL_coding_rankscore=0.320;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.508;Eigen-PC-raw=-0.415;GenoCanyon_score=0.056;GenoCanyon_score_rankscore=0.151;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=-1.14;GERP++_RS_rankscore=0.092;phyloP100way_vertebrate=0.742;phyloP100way_vertebrate_rankscore=0.257;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=4.672;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0209;ExAC_nontcga_ALL=0.0267;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0673;ExAC_nontcga_FIN=0.0526;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0291;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0566;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0566;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0566;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0250902;Kaviar_AC=3879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.078343;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179433580 rs3813246 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=24508;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50084G:p.N16695S,TTN:NM_133432:exon155:c.A50459G:p.N16820S,TTN:NM_133437:exon155:c.A50660G:p.N16887S,TTN:NM_133378:exon275:c.A69575G:p.N23192S,TTN:NM_001256850:exon276:c.A72356G:p.N24119S,TTN:NM_001267550:exon326:c.A77279G:p.N25760S;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813246;CLNALLELEID=56521;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.134;SIFT_converted_rankscore=0.263;SIFT_pred=T;Polyphen2_HDIV_score=0.17;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_rankscore=0.314;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=0.32;FATHMM_converted_rankscore=0.585;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_converted_rankscore=0.625;PROVEAN_pred=D;VEST3_score=0.031;VEST3_rankscore=0.075;MetaSVM_score=-1.041;MetaSVM_rankscore=0.169;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.075;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.998;CADD_raw_rankscore=0.189;CADD_phred=10.65;DANN_score=0.864;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.129;Eigen-PC-raw=0.291;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.83;GERP++_RS_rankscore=0.930;phyloP100way_vertebrate=4.184;phyloP100way_vertebrate_rankscore=0.579;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.189;SiPhy_29way_logOdds_rankscore=0.817;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0267;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0673;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0563;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0563;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0563;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0253166;Kaviar_AC=3914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.401979;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179433654 rs55857909 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23935;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G50010A:p.V16670V,TTN:NM_133432:exon155:c.G50385A:p.V16795V,TTN:NM_133437:exon155:c.G50586A:p.V16862V,TTN:NM_133378:exon275:c.G69501A:p.V23167V,TTN:NM_001256850:exon276:c.G72282A:p.V24094V,TTN:NM_001267550:exon326:c.G77205A:p.V25735V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55857909;CLNALLELEID=56520;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.965696;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179434139 rs3813245 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=21659;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49525C:p.Y16509H,TTN:NM_133432:exon155:c.T49900C:p.Y16634H,TTN:NM_133437:exon155:c.T50101C:p.Y16701H,TTN:NM_133378:exon275:c.T69016C:p.Y23006H,TTN:NM_001256850:exon276:c.T71797C:p.Y23933H,TTN:NM_001267550:exon326:c.T76720C:p.Y25574H;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813245;CLNALLELEID=56514;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.398;SIFT_converted_rankscore=0.105;SIFT_pred=T;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.542;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.787;Polyphen2_HVAR_rankscore=0.558;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.783;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=0.995;MutationAssessor_score_rankscore=0.252;MutationAssessor_pred=L;FATHMM_score=1.04;FATHMM_converted_rankscore=0.402;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.603;PROVEAN_pred=D;VEST3_score=0.275;VEST3_rankscore=0.333;MetaSVM_score=-0.962;MetaSVM_rankscore=0.387;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.058;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.818;CADD_raw_rankscore=0.279;CADD_phred=15.09;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.445;Eigen-PC-raw=0.473;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.54;GERP++_RS_rankscore=0.551;phyloP100way_vertebrate=6.032;phyloP100way_vertebrate_rankscore=0.704;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=12.334;SiPhy_29way_logOdds_rankscore=0.542;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0352;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0277;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0557;AF_male=0.0230;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0557;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0564;non_neuro_AF_popmax=0.0557;non_cancer_AF_popmax=.;controls_AF_popmax=0.0476;Kaviar_AF=0.0251355;Kaviar_AC=3886;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.628499;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179434303 rs376185524 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20006;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49361C:p.I16454T,TTN:NM_133432:exon155:c.T49736C:p.I16579T,TTN:NM_133437:exon155:c.T49937C:p.I16646T,TTN:NM_133378:exon275:c.T68852C:p.I22951T,TTN:NM_001256850:exon276:c.T71633C:p.I23878T,TTN:NM_001267550:exon326:c.T76556C:p.I25519T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376185524;CLNALLELEID=193233;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.219;SIFT_converted_rankscore=0.190;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.417;MutationTaster_pred=D;MutationAssessor_score=-0.4;MutationAssessor_score_rankscore=0.030;MutationAssessor_pred=N;FATHMM_score=0.09;FATHMM_converted_rankscore=0.615;FATHMM_pred=T;PROVEAN_score=-2.55;PROVEAN_converted_rankscore=0.625;PROVEAN_pred=D;VEST3_score=0.196;VEST3_rankscore=0.284;MetaSVM_score=-1.013;MetaSVM_rankscore=0.261;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.356;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.442;M-CAP_pred=T;REVEL_score=0.153;REVEL_rankscore=0.407;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.873;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.856;DANN_rankscore=0.155;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.661;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.200;Eigen-PC-raw=0.029;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.323;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.51;GERP++_RS_rankscore=0.544;phyloP100way_vertebrate=7.462;phyloP100way_vertebrate_rankscore=0.797;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.884;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.932e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.826e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.321363;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179434516 rs3813243 C T 100 PASS AC=15;AF=0.0792732;AN=214;NS=2504;DP=21664;EAS_AF=0.1736;AMR_AF=0.0418;AFR_AF=0.0855;EUR_AF=0.0328;SAS_AF=0.0481;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G49148A:p.S16383N,TTN:NM_133432:exon155:c.G49523A:p.S16508N,TTN:NM_133437:exon155:c.G49724A:p.S16575N,TTN:NM_133378:exon275:c.G68639A:p.S22880N,TTN:NM_001256850:exon276:c.G71420A:p.S23807N,TTN:NM_001267550:exon326:c.G76343A:p.S25448N;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813243;CLNALLELEID=56512;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.262;SIFT_converted_rankscore=0.187;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_rankscore=0.431;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.265;Polyphen2_HVAR_rankscore=0.379;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.081;MutationTaster_converted_rankscore=0.372;MutationTaster_pred=P;MutationAssessor_score=0.815;MutationAssessor_score_rankscore=0.209;MutationAssessor_pred=L;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.086;MetaSVM_score=-1.107;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.413;CADD_raw_rankscore=0.351;CADD_phred=18.91;DANN_score=0.815;DANN_rankscore=0.133;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_rankscore=0.479;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.308;Eigen-PC-raw=0.448;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=5.305;phyloP100way_vertebrate_rankscore=0.653;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.308;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0202;ExAC_nontcga_ALL=0.0425;ExAC_nontcga_AFR=0.0721;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0.1707;ExAC_nontcga_FIN=0.0173;ExAC_nontcga_NFE=0.0223;ExAC_nontcga_OTH=0.0451;ExAC_nontcga_SAS=0.0519;AF=0.0411;AF_popmax=0.1621;AF_male=0.0436;AF_female=0.0379;AF_raw=0.0413;AF_afr=0.0729;AF_sas=.;AF_amr=0.0377;AF_eas=0.1621;AF_nfe=0.0183;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0267;non_topmed_AF_popmax=0.1615;non_neuro_AF_popmax=0.1621;non_cancer_AF_popmax=.;controls_AF_popmax=0.1674;Kaviar_AF=0.0397602;Kaviar_AC=6147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.098843;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179435337 rs6732060 T G 100 PASS AC=11;AF=0.143171;AN=214;NS=2504;DP=22705;EAS_AF=0.0258;AMR_AF=0.1801;AFR_AF=0.2405;EUR_AF=0.0527;SAS_AF=0.1994;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48327C:p.A16109A,TTN:NM_133432:exon155:c.A48702C:p.A16234A,TTN:NM_133437:exon155:c.A48903C:p.A16301A,TTN:NM_133378:exon275:c.A67818C:p.A22606A,TTN:NM_001256850:exon276:c.A70599C:p.A23533A,TTN:NM_001267550:exon326:c.A75522C:p.A25174A;1000g2015aug_all=0.143171;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6732060;CLNALLELEID=56504;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0927;ExAC_nontcga_AFR=0.2246;ExAC_nontcga_AMR=0.2086;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0592;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0870;ExAC_nontcga_SAS=0.1820;AF=0.0892;AF_popmax=0.2129;AF_male=0.0909;AF_female=0.0870;AF_raw=0.0896;AF_afr=0.2129;AF_sas=.;AF_amr=0.1792;AF_eas=0.0285;AF_nfe=0.0316;AF_fin=0.0535;AF_asj=0.0310;AF_oth=0.0617;non_topmed_AF_popmax=0.2144;non_neuro_AF_popmax=0.2041;non_cancer_AF_popmax=.;controls_AF_popmax=0.2137;Kaviar_AF=0.0841645;Kaviar_AC=13012;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.850534;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179435418 rs56151652 T C 100 PASS AC=1;AF=0.00599042;AN=214;NS=2504;DP=22139;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0225;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48246G:p.K16082K,TTN:NM_133432:exon155:c.A48621G:p.K16207K,TTN:NM_133437:exon155:c.A48822G:p.K16274K,TTN:NM_133378:exon275:c.A67737G:p.K22579K,TTN:NM_001256850:exon276:c.A70518G:p.K23506K,TTN:NM_001267550:exon326:c.A75441G:p.K25147K;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56151652;CLNALLELEID=56503;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0223;AF=0.0037;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0042;AF_raw=0.0037;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0020;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0060737;Kaviar_AC=939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.050815;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179436020 rs744426 G A 100 PASS AC=26;AF=0.208067;AN=214;NS=2504;DP=23224;EAS_AF=0.4504;AMR_AF=0.1455;AFR_AF=0.0666;EUR_AF=0.1372;SAS_AF=0.2669;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47644T:p.R15882C,TTN:NM_133432:exon155:c.C48019T:p.R16007C,TTN:NM_133437:exon155:c.C48220T:p.R16074C,TTN:NM_133378:exon275:c.C67135T:p.R22379C,TTN:NM_001256850:exon276:c.C69916T:p.R23306C,TTN:NM_001267550:exon326:c.C74839T:p.R24947C;1000g2015aug_all=0.208067;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs744426;CLNALLELEID=56494;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_rankscore=0.604;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.99;MutationAssessor_score_rankscore=0.540;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-5.3;PROVEAN_converted_rankscore=0.844;PROVEAN_pred=D;VEST3_score=0.366;VEST3_rankscore=0.502;MetaSVM_score=-0.982;MetaSVM_rankscore=0.345;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.301;REVEL_rankscore=0.626;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.394;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.854;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.573;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.544;Eigen-PC-raw=0.517;GenoCanyon_score=0.493;GenoCanyon_score_rankscore=0.209;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.5;GERP++_RS_rankscore=0.542;phyloP100way_vertebrate=3.321;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.659;SiPhy_29way_logOdds_rankscore=0.617;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1776;ExAC_nontcga_AFR=0.0676;ExAC_nontcga_AMR=0.1493;ExAC_nontcga_EAS=0.4302;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1452;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2543;AF=0.1436;AF_popmax=0.4365;AF_male=0.1440;AF_female=0.1431;AF_raw=0.1443;AF_afr=0.0738;AF_sas=.;AF_amr=0.1596;AF_eas=0.4365;AF_nfe=0.1512;AF_fin=0.1490;AF_asj=0.1069;AF_oth=0.1685;non_topmed_AF_popmax=0.4355;non_neuro_AF_popmax=0.4365;non_cancer_AF_popmax=.;controls_AF_popmax=0.4244;Kaviar_AF=0.169823;Kaviar_AC=26255;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.349158;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179436257 rs72646898 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=23199;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A47407G:p.I15803V,TTN:NM_133432:exon155:c.A47782G:p.I15928V,TTN:NM_133437:exon155:c.A47983G:p.I15995V,TTN:NM_133378:exon275:c.A66898G:p.I22300V,TTN:NM_001256850:exon276:c.A69679G:p.I23227V,TTN:NM_001267550:exon326:c.A74602G:p.I24868V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646898;CLNALLELEID=283976;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.123;SIFT_converted_rankscore=0.323;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.478;MutationTaster_pred=D;MutationAssessor_score=1.575;MutationAssessor_score_rankscore=0.398;MutationAssessor_pred=L;FATHMM_score=0.66;FATHMM_converted_rankscore=0.524;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.137;VEST3_rankscore=0.267;MetaSVM_score=-1.016;MetaSVM_rankscore=0.251;MetaSVM_pred=T;MetaLR_score=0.092;MetaLR_rankscore=0.351;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.219;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.906;CADD_raw_rankscore=0.181;CADD_phred=10.11;DANN_score=0.870;DANN_rankscore=0.164;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.077;Eigen-PC-raw=0.216;GenoCanyon_score=0.735;GenoCanyon_score_rankscore=0.231;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.75;GERP++_RS_rankscore=0.598;phyloP100way_vertebrate=4.999;phyloP100way_vertebrate_rankscore=0.634;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.124;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0005;AF_female=0;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.506059;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179436303 rs553463282 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22285;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47361G:p.S15787S,TTN:NM_133432:exon155:c.C47736G:p.S15912S,TTN:NM_133437:exon155:c.C47937G:p.S15979S,TTN:NM_133378:exon275:c.C66852G:p.S22284S,TTN:NM_001256850:exon276:c.C69633G:p.S23211S,TTN:NM_001267550:exon326:c.C74556G:p.S24852S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553463282;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.78e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.268e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.753032;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179437034 rs55762754 C G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=22223;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G46630C:p.E15544Q,TTN:NM_133432:exon155:c.G47005C:p.E15669Q,TTN:NM_133437:exon155:c.G47206C:p.E15736Q,TTN:NM_133378:exon275:c.G66121C:p.E22041Q,TTN:NM_001256850:exon276:c.G68902C:p.E22968Q,TTN:NM_001267550:exon326:c.G73825C:p.E24609Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55762754;CLNALLELEID=56487;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.087;SIFT_converted_rankscore=0.324;SIFT_pred=T;Polyphen2_HDIV_score=0.846;Polyphen2_HDIV_rankscore=0.448;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.135;Polyphen2_HVAR_rankscore=0.316;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.945;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.176;VEST3_rankscore=0.429;MetaSVM_score=-0.778;MetaSVM_rankscore=0.564;MetaSVM_pred=T;MetaLR_score=0.116;MetaLR_rankscore=0.410;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.191;CADD_raw_rankscore=0.324;CADD_phred=17.45;DANN_score=0.846;DANN_rankscore=0.149;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.845;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.480;Eigen-PC-raw=0.548;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.557;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=1;GERP++_RS=5.18;GERP++_RS_rankscore=0.710;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=15.767;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0159;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0048;AF_popmax=0.0060;AF_male=0.0044;AF_female=0.0053;AF_raw=0.0048;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0135;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.728459;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179438235 rs56293906 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20652;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A45429G:p.P15143P,TTN:NM_133432:exon155:c.A45804G:p.P15268P,TTN:NM_133437:exon155:c.A46005G:p.P15335P,TTN:NM_133378:exon275:c.A64920G:p.P21640P,TTN:NM_001256850:exon276:c.A67701G:p.P22567P,TTN:NM_001267550:exon326:c.A72624G:p.P24208P;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56293906;CLNALLELEID=56481;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0238;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.052107;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179438866 rs10164753 C T 100 PASS AC=9;AF=0.0978435;AN=214;NS=2504;DP=20055;EAS_AF=0.0258;AMR_AF=0.1542;AFR_AF=0.0877;EUR_AF=0.0467;SAS_AF=0.1984;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44798A:p.R14933H,TTN:NM_133432:exon155:c.G45173A:p.R15058H,TTN:NM_133437:exon155:c.G45374A:p.R15125H,TTN:NM_133378:exon275:c.G64289A:p.R21430H,TTN:NM_001256850:exon276:c.G67070A:p.R22357H,TTN:NM_001267550:exon326:c.G71993A:p.R23998H;1000g2015aug_all=0.0978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10164753;CLNALLELEID=56470;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.21;MutationAssessor_score_rankscore=0.979;MutationAssessor_pred=H;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.721;PROVEAN_pred=D;VEST3_score=0.196;VEST3_rankscore=0.663;MetaSVM_score=-0.659;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.039;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.517;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.024;CADD_raw_rankscore=0.541;CADD_phred=23.6;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.860;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.044;Eigen-PC-raw=0.959;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.546;SiPhy_29way_logOdds_rankscore=0.953;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2|ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0292;ExAC_nontcga_ALL=0.0791;ExAC_nontcga_AFR=0.0811;ExAC_nontcga_AMR=0.2018;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0328;ExAC_nontcga_OTH=0.0812;ExAC_nontcga_SAS=0.1811;AF=0.0510;AF_popmax=0.1698;AF_male=0.0516;AF_female=0.0502;AF_raw=0.0511;AF_afr=0.0819;AF_sas=.;AF_amr=0.1698;AF_eas=0.0294;AF_nfe=0.0292;AF_fin=0.0532;AF_asj=0.0276;AF_oth=0.0496;non_topmed_AF_popmax=0.1754;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0704842;Kaviar_AC=10897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.246934;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179439511 rs145504744 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21446;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44153A:p.R14718H,TTN:NM_133432:exon155:c.G44528A:p.R14843H,TTN:NM_133437:exon155:c.G44729A:p.R14910H,TTN:NM_133378:exon275:c.G63644A:p.R21215H,TTN:NM_001256850:exon276:c.G66425A:p.R22142H,TTN:NM_001267550:exon326:c.G71348A:p.R23783H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145504744;CLNALLELEID=271625;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.885;MutationAssessor_score_rankscore=0.502;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_converted_rankscore=0.701;PROVEAN_pred=D;VEST3_score=0.304;VEST3_rankscore=0.416;MetaSVM_score=-0.325;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.362;MetaLR_rankscore=0.723;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.411;M-CAP_pred=T;REVEL_score=0.402;REVEL_rankscore=0.719;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.171;CADD_raw_rankscore=0.559;CADD_phred=23.8;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.816;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.864;Eigen-PC-raw=0.848;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.603;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.583e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.189e-05;AF_popmax=6.486e-05;AF_male=0;AF_female=7.191e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.890331;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179440029 rs12464787 G A 100 PASS AC=50;AF=0.146565;AN=214;NS=2504;DP=20676;EAS_AF=0.0417;AMR_AF=0.1167;AFR_AF=0.0779;EUR_AF=0.3052;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43635T:p.S14545S,TTN:NM_133432:exon155:c.C44010T:p.S14670S,TTN:NM_133437:exon155:c.C44211T:p.S14737S,TTN:NM_133378:exon275:c.C63126T:p.S21042S,TTN:NM_001256850:exon276:c.C65907T:p.S21969S,TTN:NM_001267550:exon326:c.C70830T:p.S23610S;1000g2015aug_all=0.146565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12464787;CLNALLELEID=56458;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2975;ExAC_nontcga_ALL=0.2365;ExAC_nontcga_AFR=0.1177;ExAC_nontcga_AMR=0.0988;ExAC_nontcga_EAS=0.0414;ExAC_nontcga_FIN=0.3985;ExAC_nontcga_NFE=0.2981;ExAC_nontcga_OTH=0.2660;ExAC_nontcga_SAS=0.2117;AF=0.2539;AF_popmax=0.3221;AF_male=0.2455;AF_female=0.2645;AF_raw=0.2539;AF_afr=0.1221;AF_sas=.;AF_amr=0.1380;AF_eas=0.0489;AF_nfe=0.3221;AF_fin=0.3929;AF_asj=0.1862;AF_oth=0.2987;non_topmed_AF_popmax=0.3315;non_neuro_AF_popmax=0.3193;non_cancer_AF_popmax=.;controls_AF_popmax=0.3505;Kaviar_AF=0.237216;Kaviar_AC=36674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031764;ALLELE_END GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179440182 rs72646890 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=21328;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T43482C:p.D14494D,TTN:NM_133432:exon155:c.T43857C:p.D14619D,TTN:NM_133437:exon155:c.T44058C:p.D14686D,TTN:NM_133378:exon275:c.T62973C:p.D20991D,TTN:NM_001256850:exon276:c.T65754C:p.D21918D,TTN:NM_001267550:exon326:c.T70677C:p.D23559D;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646890;CLNALLELEID=56454;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0039;AF_popmax=0.0071;AF_male=0.0038;AF_female=0.0039;AF_raw=0.0039;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.883991;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441119 rs115658240 G A 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=20535;EAS_AF=0;AMR_AF=0;AFR_AF=0.0287;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C42545T:p.P14182L,TTN:NM_133432:exon155:c.C42920T:p.P14307L,TTN:NM_133437:exon155:c.C43121T:p.P14374L,TTN:NM_133378:exon275:c.C62036T:p.P20679L,TTN:NM_001256850:exon276:c.C64817T:p.P21606L,TTN:NM_001267550:exon326:c.C69740T:p.P23247L;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115658240;CLNALLELEID=56441;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.171;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.442;Polyphen2_HDIV_rankscore=0.341;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.093;Polyphen2_HVAR_rankscore=0.334;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.47;MutationAssessor_score_rankscore=0.131;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-4.41;PROVEAN_converted_rankscore=0.790;PROVEAN_pred=D;VEST3_score=0.078;VEST3_rankscore=0.208;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.210;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.372;REVEL_rankscore=0.695;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.369;CADD_raw_rankscore=0.346;CADD_phred=18.62;DANN_score=0.663;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.950;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.312;Eigen-PC-raw=0.405;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=9.940;phyloP100way_vertebrate_rankscore=0.989;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.849;phastCons20way_mammalian_rankscore=0.354;SiPhy_29way_logOdds=19.934;SiPhy_29way_logOdds_rankscore=0.971;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0280;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.815e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0076;AF_popmax=0.0270;AF_male=0.0080;AF_female=0.0072;AF_raw=0.0076;AF_afr=0.0270;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0272;non_neuro_AF_popmax=0.0310;non_cancer_AF_popmax=.;controls_AF_popmax=0.0319;Kaviar_AF=0.002238;Kaviar_AC=346;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.104464;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441295 rs72646885 T C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=20363;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646885;CLNALLELEID=56440;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.008;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.555;MutationAssessor_score_rankscore=0.935;MutationAssessor_pred=H;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-2.99;PROVEAN_converted_rankscore=0.647;PROVEAN_pred=D;VEST3_score=0.2;VEST3_rankscore=0.373;MetaSVM_score=0.109;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.478;MetaLR_rankscore=0.800;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.566;REVEL_rankscore=0.825;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.439;CADD_raw_rankscore=0.236;CADD_phred=12.99;DANN_score=0.838;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.727;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.650;Eigen-PC-raw=0.554;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.57;GERP++_RS_rankscore=0.557;phyloP100way_vertebrate=7.969;phyloP100way_vertebrate_rankscore=0.875;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.933;phastCons20way_mammalian_rankscore=0.406;SiPhy_29way_logOdds=11.877;SiPhy_29way_logOdds_rankscore=0.516;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0095;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0111;AF=0.0046;AF_popmax=0.0073;AF_male=0.0039;AF_female=0.0054;AF_raw=0.0046;AF_afr=0.0007;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0009;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0072;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.654685;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179441738 rs147525123 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20740;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.T42129C:p.N14043N,TTN:NM_133432:exon153:c.T42504C:p.N14168N,TTN:NM_133437:exon153:c.T42705C:p.N14235N,TTN:NM_133378:exon273:c.T61620C:p.N20540N,TTN:NM_001256850:exon274:c.T64401C:p.N21467N,TTN:NM_001267550:exon324:c.T69324C:p.N23108N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147525123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.766990;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441932 rs55980498 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21858;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.C41935T:p.P13979S,TTN:NM_133432:exon153:c.C42310T:p.P14104S,TTN:NM_133437:exon153:c.C42511T:p.P14171S,TTN:NM_133378:exon273:c.C61426T:p.P20476S,TTN:NM_001256850:exon274:c.C64207T:p.P21403S,TTN:NM_001267550:exon324:c.C69130T:p.P23044S;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980498;CLNALLELEID=56430;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.916;Polyphen2_HDIV_rankscore=0.528;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.49;Polyphen2_HVAR_rankscore=0.503;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.82;MutationAssessor_score_rankscore=0.824;MutationAssessor_pred=M;FATHMM_score=-0.67;FATHMM_converted_rankscore=0.725;FATHMM_pred=T;PROVEAN_score=-5.65;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.247;VEST3_rankscore=0.343;MetaSVM_score=0.021;MetaSVM_rankscore=0.827;MetaSVM_pred=D;MetaLR_score=0.417;MetaLR_rankscore=0.763;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.540;M-CAP_pred=D;REVEL_score=0.593;REVEL_rankscore=0.840;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.114;CADD_raw_rankscore=0.315;CADD_phred=16.94;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.882;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.798;Eigen-PC-raw=0.806;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.62;GERP++_RS_rankscore=0.857;phyloP100way_vertebrate=8.077;phyloP100way_vertebrate_rankscore=0.892;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.028;SiPhy_29way_logOdds_rankscore=0.975;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0011;AF=0.0038;AF_popmax=0.0051;AF_male=0.0038;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0046;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.158697;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179442292 rs148238009 TA T 100 PASS AC=26;AF=0.0678914;AN=214;NS=2504;DP=20948;EAS_AF=0.006;AMR_AF=0.0634;AFR_AF=0.0635;EUR_AF=0.1054;SAS_AF=0.1022;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1192;ExAC_nontcga_ALL=0.1389;ExAC_nontcga_AFR=0.0935;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0280;ExAC_nontcga_FIN=0.1183;ExAC_nontcga_NFE=0.1652;ExAC_nontcga_OTH=0.1336;ExAC_nontcga_SAS=0.1786;AF=0.0906;AF_popmax=0.1117;AF_male=0.0902;AF_female=0.0911;AF_raw=0.0875;AF_afr=0.0633;AF_sas=.;AF_amr=0.0421;AF_eas=0.0046;AF_nfe=0.1117;AF_fin=0.1181;AF_asj=0.0616;AF_oth=0.1053;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1188;Kaviar_AF=0.002335;Kaviar_AC=361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1192;ExAC_nontcga_ALL=0.1389;ExAC_nontcga_AFR=0.0935;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0280;ExAC_nontcga_FIN=0.1183;ExAC_nontcga_NFE=0.1652;ExAC_nontcga_OTH=0.1336;ExAC_nontcga_SAS=0.1786;AF=0.0906;AF_popmax=0.1117;AF_male=0.0902;AF_female=0.0911;AF_raw=0.0875;AF_afr=0.0633;AF_sas=.;AF_amr=0.0421;AF_eas=0.0046;AF_nfe=0.1117;AF_fin=0.1181;AF_asj=0.0616;AF_oth=0.1053;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1188;Kaviar_AF=0.002335;Kaviar_AC=361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179442784 rs72646880 C G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18194;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon150:c.G41263C:p.A13755P,TTN:NM_133432:exon151:c.G41638C:p.A13880P,TTN:NM_133437:exon151:c.G41839C:p.A13947P,TTN:NM_133378:exon271:c.G60754C:p.A20252P,TTN:NM_001256850:exon272:c.G63535C:p.A21179P,TTN:NM_001267550:exon322:c.G68458C:p.A22820P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646880;CLNALLELEID=56433;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-1.04;FATHMM_converted_rankscore=0.766;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.464;VEST3_rankscore=0.685;MetaSVM_score=0.738;MetaSVM_rankscore=0.936;MetaSVM_pred=D;MetaLR_score=0.763;MetaLR_rankscore=0.919;MetaLR_pred=D;M-CAP_score=0.130;M-CAP_rankscore=0.812;M-CAP_pred=D;REVEL_score=0.761;REVEL_rankscore=0.920;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.997;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.934;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.063;Eigen-PC-raw=0.993;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.83;GERP++_RS_rankscore=0.930;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.120;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0027;AF=0.0012;AF_popmax=0.0021;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.280985;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179443540 rs10497517 A G 100 PASS AC=11;AF=0.135982;AN=214;NS=2504;DP=21772;EAS_AF=0.0258;AMR_AF=0.1744;AFR_AF=0.2163;EUR_AF=0.0527;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.T41022C:p.H13674H,TTN:NM_133432:exon149:c.T41397C:p.H13799H,TTN:NM_133437:exon149:c.T41598C:p.H13866H,TTN:NM_133378:exon269:c.T60513C:p.H20171H,TTN:NM_001256850:exon270:c.T63294C:p.H21098H,TTN:NM_001267550:exon320:c.T68217C:p.H22739H;1000g2015aug_all=0.135982;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497517;CLNALLELEID=56428;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.2025;ExAC_nontcga_AMR=0.2106;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.1822;AF=0.0839;AF_popmax=0.1941;AF_male=0.0860;AF_female=0.0813;AF_raw=0.0841;AF_afr=0.1941;AF_sas=.;AF_amr=0.1809;AF_eas=0.0286;AF_nfe=0.0317;AF_fin=0.0532;AF_asj=0.0310;AF_oth=0.0589;non_topmed_AF_popmax=0.1953;non_neuro_AF_popmax=0.1866;non_cancer_AF_popmax=.;controls_AF_popmax=0.1947;Kaviar_AF=0.0825474;Kaviar_AC=12762;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.237475;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444137 rs2288571 A G 100 PASS AC=42;AF=0.347444;AN=214;NS=2504;DP=20771;EAS_AF=0.6329;AMR_AF=0.2075;AFR_AF=0.3517;EUR_AF=0.173;SAS_AF=0.3262;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288571;CLNALLELEID=141507;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1688;ExAC_nontcga_ALL=0.2431;ExAC_nontcga_AFR=0.3485;ExAC_nontcga_AMR=0.1908;ExAC_nontcga_EAS=0.6117;ExAC_nontcga_FIN=0.1660;ExAC_nontcga_NFE=0.1733;ExAC_nontcga_OTH=0.2210;ExAC_nontcga_SAS=0.3331;AF=0.2436;AF_popmax=0.6116;AF_male=0.2489;AF_female=0.2370;AF_raw=0.2439;AF_afr=0.3451;AF_sas=.;AF_amr=0.2111;AF_eas=0.6116;AF_nfe=0.1730;AF_fin=0.1631;AF_asj=0.1724;AF_oth=0.2160;non_topmed_AF_popmax=0.6104;non_neuro_AF_popmax=0.6116;non_cancer_AF_popmax=.;controls_AF_popmax=0.6049;Kaviar_AF=0.226271;Kaviar_AC=34982;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179444166 rs148740174 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21385;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148740174;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.17e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.811e-05;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=7.434e-05;AF=3.188e-05;AF_popmax=0.0001;AF_male=5.728e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444289 rs2288570 A G 100 PASS AC=5;AF=0.0283546;AN=214;NS=2504;DP=21779;EAS_AF=0.0605;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon147:c.T40440C:p.V13480V,TTN:NM_133432:exon148:c.T40815C:p.V13605V,TTN:NM_133437:exon148:c.T41016C:p.V13672V,TTN:NM_133378:exon268:c.T59931C:p.V19977V,TTN:NM_001256850:exon269:c.T62712C:p.V20904V,TTN:NM_001267550:exon319:c.T67635C:p.V22545V;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288570;CLNALLELEID=56420;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.016;esp6500siv2_ea=0.0225;ExAC_nontcga_ALL=0.0315;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.0671;ExAC_nontcga_FIN=0.0532;ExAC_nontcga_NFE=0.0276;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0299;AF=0.0246;AF_popmax=0.0575;AF_male=0.0241;AF_female=0.0253;AF_raw=0.0246;AF_afr=0.0048;AF_sas=.;AF_amr=0.0225;AF_eas=0.0575;AF_nfe=0.0256;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0304;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0290553;Kaviar_AC=4492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.948089;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444626 rs72646874 A C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23425;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0533;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0069;AF=0.0236;AF_popmax=0.0568;AF_male=0.0232;AF_female=0.0242;AF_raw=0.0236;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0568;AF_nfe=0.0240;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0250191;Kaviar_AC=3868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0533;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0069;AF=0.0236;AF_popmax=0.0568;AF_male=0.0232;AF_female=0.0242;AF_raw=0.0236;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0568;AF_nfe=0.0240;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0250191;Kaviar_AC=3868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444768 rs4145333 C G 100 PASS AC=214;AF=0.994609;AN=214;NS=2504;DP=19917;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9811;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P;1000g2015aug_all=0.994609;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4145333;CLNALLELEID=56415;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.371;SIFT_converted_rankscore=0.139;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.145;MutationAssessor_score_rankscore=0.044;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_converted_rankscore=0.080;PROVEAN_pred=N;VEST3_score=0.068;VEST3_rankscore=0.067;MetaSVM_score=-1.003;MetaSVM_rankscore=0.291;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.011;CADD_raw_rankscore=0.093;CADD_phred=2.486;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.308;Eigen-PC-raw=-1.191;GenoCanyon_score=0.077;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.82;GERP++_RS_rankscore=0.241;phyloP100way_vertebrate=0.887;phyloP100way_vertebrate_rankscore=0.277;phyloP20way_mammalian=-0.642;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.547;phastCons100way_vertebrate_rankscore=0.271;phastCons20way_mammalian=0.829;phastCons20way_mammalian_rankscore=0.346;SiPhy_29way_logOdds=0.542;SiPhy_29way_logOdds_rankscore=0.006;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9986;ExAC_nontcga_AFR=0.9857;ExAC_nontcga_AMR=0.9988;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9968;AF_popmax=1;AF_male=0.9964;AF_female=0.9974;AF_raw=0.9968;AF_afr=0.9890;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947562;Kaviar_AC=146495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.226625;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179444939 rs2303838 C T 100 PASS AC=48;AF=0.351238;AN=214;NS=2504;DP=20260;EAS_AF=0.631;AMR_AF=0.2147;AFR_AF=0.3434;EUR_AF=0.1849;SAS_AF=0.3415;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G39880A:p.V13294I,TTN:NM_133432:exon147:c.G40255A:p.V13419I,TTN:NM_133437:exon147:c.G40456A:p.V13486I,TTN:NM_133378:exon267:c.G59371A:p.V19791I,TTN:NM_001256850:exon268:c.G62152A:p.V20718I,TTN:NM_001267550:exon318:c.G67075A:p.V22359I;1000g2015aug_all=0.351238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303838;CLNALLELEID=56412;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.036;MutationTaster_converted_rankscore=0.409;MutationTaster_pred=P;MutationAssessor_score=1.435;MutationAssessor_score_rankscore=0.361;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.204;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.159;MetaSVM_score=-0.962;MetaSVM_rankscore=0.389;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.029;REVEL_rankscore=0.069;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.514;CADD_raw_rankscore=0.244;CADD_phred=13.39;DANN_score=0.894;DANN_rankscore=0.182;fathmm-MKL_coding_score=0.304;fathmm-MKL_coding_rankscore=0.239;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.618;Eigen-PC-raw=-0.546;GenoCanyon_score=0.180;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.61;GERP++_RS_rankscore=0.301;phyloP100way_vertebrate=-0.014;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=0.022;phyloP20way_mammalian_rankscore=0.145;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=6.761;SiPhy_29way_logOdds_rankscore=0.226;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1769;ExAC_nontcga_ALL=0.2464;ExAC_nontcga_AFR=0.3351;ExAC_nontcga_AMR=0.1930;ExAC_nontcga_EAS=0.6003;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1782;ExAC_nontcga_OTH=0.2267;ExAC_nontcga_SAS=0.3315;AF=0.2423;AF_popmax=0.6041;AF_male=0.2478;AF_female=0.2352;AF_raw=0.2430;AF_afr=0.3324;AF_sas=.;AF_amr=0.2158;AF_eas=0.6041;AF_nfe=0.1781;AF_fin=0.1625;AF_asj=0.1736;AF_oth=0.2169;non_topmed_AF_popmax=0.6027;non_neuro_AF_popmax=0.6041;non_cancer_AF_popmax=.;controls_AF_popmax=0.5996;Kaviar_AF=0.233192;Kaviar_AC=36052;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.290230;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179446381 rs72646869 C T 100 PASS AC=8;AF=0.00579073;AN=214;NS=2504;DP=17625;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon144:c.G39419A:p.R13140K,TTN:NM_133432:exon145:c.G39794A:p.R13265K,TTN:NM_133437:exon145:c.G39995A:p.R13332K,TTN:NM_133378:exon265:c.G58910A:p.R19637K,TTN:NM_001256850:exon266:c.G61691A:p.R20564K,TTN:NM_001267550:exon316:c.G66614A:p.R22205K;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646869;CLNALLELEID=56401;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.575;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.122;Polyphen2_HDIV_rankscore=0.252;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=-0.045;MutationAssessor_score_rankscore=0.049;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-1.57;PROVEAN_converted_rankscore=0.385;PROVEAN_pred=N;VEST3_score=0.288;VEST3_rankscore=0.354;MetaSVM_score=-1.035;MetaSVM_rankscore=0.189;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.153;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.069;REVEL_rankscore=0.206;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.234;CADD_raw_rankscore=0.448;CADD_phred=22.8;DANN_score=0.920;DANN_rankscore=0.207;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_rankscore=0.485;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=0.148;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=1.751;phyloP100way_vertebrate_rankscore=0.377;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=19.389;SiPhy_29way_logOdds_rankscore=0.945;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0174;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0176;ExAC_nontcga_SAS=0.0021;AF=0.0130;AF_popmax=0.0177;AF_male=0.0124;AF_female=0.0139;AF_raw=0.0131;AF_afr=0.0044;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0177;AF_fin=0.0201;AF_asj=0;AF_oth=0.0166;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0114;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.423139;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179447848 rs4894029 T C 100 PASS AC=58;AF=0.513778;AN=214;NS=2504;DP=18418;EAS_AF=0.7202;AMR_AF=0.4078;AFR_AF=0.5749;EUR_AF=0.2555;SAS_AF=0.5593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.A38487G:p.T12829T,TTN:NM_133432:exon142:c.A38862G:p.T12954T,TTN:NM_133437:exon142:c.A39063G:p.T13021T,TTN:NM_133378:exon262:c.A57978G:p.T19326T,TTN:NM_001256850:exon263:c.A60759G:p.T20253T,TTN:NM_001267550:exon313:c.A65682G:p.T21894T;1000g2015aug_all=0.513778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894029;CLNALLELEID=56392;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2244;ExAC_nontcga_ALL=0.3683;ExAC_nontcga_AFR=0.5542;ExAC_nontcga_AMR=0.4420;ExAC_nontcga_EAS=0.6999;ExAC_nontcga_FIN=0.2785;ExAC_nontcga_NFE=0.2388;ExAC_nontcga_OTH=0.3433;ExAC_nontcga_SAS=0.5301;AF=0.3519;AF_popmax=0.6942;AF_male=0.3582;AF_female=0.3438;AF_raw=0.3527;AF_afr=0.5449;AF_sas=.;AF_amr=0.4123;AF_eas=0.6942;AF_nfe=0.2299;AF_fin=0.2693;AF_asj=0.2414;AF_oth=0.3066;non_topmed_AF_popmax=0.6938;non_neuro_AF_popmax=0.6942;non_cancer_AF_popmax=.;controls_AF_popmax=0.6805;Kaviar_AF=0.339782;Kaviar_AC=52531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.583328;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179448315 rs72646865 A C 100 PASS AC=5;AF=0.0391374;AN=214;NS=2504;DP=19389;EAS_AF=0.0605;AMR_AF=0.0317;AFR_AF=0.0386;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646865;CLNALLELEID=141503;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0515;ExAC_nontcga_AMR=0.0580;ExAC_nontcga_EAS=0.0879;ExAC_nontcga_FIN=0.0649;ExAC_nontcga_NFE=0.0401;ExAC_nontcga_OTH=0.0381;ExAC_nontcga_SAS=0.0544;AF=0.0340;AF_popmax=0.0576;AF_male=0.0341;AF_female=0.0338;AF_raw=0.0340;AF_afr=0.0379;AF_sas=.;AF_amr=0.0248;AF_eas=0.0576;AF_nfe=0.0257;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0322;non_topmed_AF_popmax=0.0584;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0308664;Kaviar_AC=4772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179448967 rs72646862 A AAAC 100 PASS AC=5;AF=0.0920527;AN=214;NS=2504;DP=23100;EAS_AF=0.0258;AMR_AF=0.1455;AFR_AF=0.0885;EUR_AF=0.0388;SAS_AF=0.182;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3041809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0686;ExAC_nontcga_AFR=0.0808;ExAC_nontcga_AMR=0.1994;ExAC_nontcga_EAS=0.0244;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0271;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.1748;AF=0.0479;AF_popmax=0.1639;AF_male=0.0482;AF_female=0.0476;AF_raw=0.0483;AF_afr=0.0802;AF_sas=.;AF_amr=0.1639;AF_eas=0.0276;AF_nfe=0.0247;AF_fin=0.0530;AF_asj=0.0276;AF_oth=0.0470;non_topmed_AF_popmax=0.1692;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.002031;Kaviar_AC=314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179449131 rs13021201 G A 100 PASS AC=7;AF=0.0107827;AN=214;NS=2504;DP=19337;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0368;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37952T:p.S12651L,TTN:NM_133432:exon140:c.C38327T:p.S12776L,TTN:NM_133437:exon140:c.C38528T:p.S12843L,TTN:NM_133378:exon260:c.C57443T:p.S19148L,TTN:NM_001256850:exon261:c.C60224T:p.S20075L,TTN:NM_001267550:exon311:c.C65147T:p.S21716L;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13021201;CLNALLELEID=56383;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.031;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_rankscore=0.392;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.266;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.555;MutationAssessor_score_rankscore=0.395;MutationAssessor_pred=L;FATHMM_score=0.28;FATHMM_converted_rankscore=0.591;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_converted_rankscore=0.759;PROVEAN_pred=D;VEST3_score=0.38;VEST3_rankscore=0.464;MetaSVM_score=-0.891;MetaSVM_rankscore=0.489;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_rankscore=0.252;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.355;CADD_raw_rankscore=0.462;CADD_phred=22.9;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.978;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.570;Eigen-PC-raw=0.689;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=9.940;phyloP100way_vertebrate_rankscore=0.989;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.406;SiPhy_29way_logOdds_rankscore=0.990;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0426;ExAC_nontcga_ALL=0.0249;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0141;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0377;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0174;AF=0.0224;AF_popmax=0.0350;AF_male=0.0226;AF_female=0.0221;AF_raw=0.0223;AF_afr=0.0087;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0350;AF_fin=0.0121;AF_asj=0.0069;AF_oth=0.0267;non_topmed_AF_popmax=0.0318;non_neuro_AF_popmax=0.0342;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0270889;Kaviar_AC=4188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.438228;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179449186 rs72646861 G A 100 PASS AC=2;AF=0.0129792;AN=214;NS=2504;DP=19635;EAS_AF=0.0228;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646861;CLNALLELEID=56381;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.053;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.68;MutationAssessor_score_rankscore=0.787;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_converted_rankscore=0.897;PROVEAN_pred=D;VEST3_score=0.361;VEST3_rankscore=0.552;MetaSVM_score=-0.451;MetaSVM_rankscore=0.704;MetaSVM_pred=T;MetaLR_score=0.239;MetaLR_rankscore=0.608;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.103;CADD_raw_rankscore=0.551;CADD_phred=23.7;DANN_score=0.896;DANN_rankscore=0.184;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.849;Eigen-PC-raw=0.840;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.08;GERP++_RS_rankscore=0.990;phyloP100way_vertebrate=5.148;phyloP100way_vertebrate_rankscore=0.645;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.665;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0182;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0378;AF=0.0022;AF_popmax=0.0189;AF_male=0.0026;AF_female=0.0017;AF_raw=0.0022;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0.0189;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0194;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.684260;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179449579 rs150661999 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150661999;CLNALLELEID=56378;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.981;Polyphen2_HVAR_rankscore=0.769;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.11;MutationAssessor_score_rankscore=0.880;MutationAssessor_pred=M;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_converted_rankscore=0.506;PROVEAN_pred=N;VEST3_score=0.281;VEST3_rankscore=0.405;MetaSVM_score=0.409;MetaSVM_rankscore=0.892;MetaSVM_pred=D;MetaLR_score=0.629;MetaLR_rankscore=0.870;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.898;CADD_raw_rankscore=0.409;CADD_phred=21.8;DANN_score=0.976;DANN_rankscore=0.342;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.655;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.927;Eigen-PC-raw=0.866;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=3.342;phyloP100way_vertebrate_rankscore=0.516;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.557;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.610841;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179451420 rs2042996 G A 100 PASS AC=56;AF=0.507588;AN=214;NS=2504;DP=19158;EAS_AF=0.7212;AMR_AF=0.4078;AFR_AF=0.5582;EUR_AF=0.2485;SAS_AF=0.5562;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon136:c.C37013T:p.T12338I,TTN:NM_133432:exon137:c.C37388T:p.T12463I,TTN:NM_133437:exon137:c.C37589T:p.T12530I,TTN:NM_133378:exon257:c.C56504T:p.T18835I,TTN:NM_001256850:exon258:c.C59285T:p.T19762I,TTN:NM_001267550:exon308:c.C64208T:p.T21403I;1000g2015aug_all=0.507588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2042996;CLNALLELEID=56374;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=P;MutationAssessor_score=-3.635;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=2.99;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.146;MetaSVM_score=-0.907;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.201;REVEL_rankscore=0.491;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.015;CADD_raw_rankscore=0.422;CADD_phred=22.3;DANN_score=0.769;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.200;fathmm-MKL_coding_rankscore=0.207;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.633;Eigen-PC-raw=-0.261;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.396;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=5.884;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=0.244;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=12.366;SiPhy_29way_logOdds_rankscore=0.544;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2197;ExAC_nontcga_ALL=0.3605;ExAC_nontcga_AFR=0.5338;ExAC_nontcga_AMR=0.4318;ExAC_nontcga_EAS=0.7007;ExAC_nontcga_FIN=0.2768;ExAC_nontcga_NFE=0.2315;ExAC_nontcga_OTH=0.3362;ExAC_nontcga_SAS=0.5243;AF=0.3442;AF_popmax=0.6984;AF_male=0.3503;AF_female=0.3366;AF_raw=0.3447;AF_afr=0.5245;AF_sas=.;AF_amr=0.4090;AF_eas=0.6984;AF_nfe=0.2261;AF_fin=0.2686;AF_asj=0.2414;AF_oth=0.2989;non_topmed_AF_popmax=0.6968;non_neuro_AF_popmax=0.6984;non_cancer_AF_popmax=.;controls_AF_popmax=0.6847;Kaviar_AF=0.336522;Kaviar_AC=52027;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.427326;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179451906 rs72646857 G A 100 PASS AC=2;AF=0.0131789;AN=214;NS=2504;DP=20053;EAS_AF=0.0308;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon135:c.C36837T:p.N12279N,TTN:NM_133432:exon136:c.C37212T:p.N12404N,TTN:NM_133437:exon136:c.C37413T:p.N12471N,TTN:NM_133378:exon256:c.C56328T:p.N18776N,TTN:NM_001256850:exon257:c.C59109T:p.N19703N,TTN:NM_001267550:exon307:c.C64032T:p.N21344N;1000g2015aug_all=0.0131789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646857;CLNALLELEID=56370;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0.0360;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0257;AF=0.0064;AF_popmax=0.0407;AF_male=0.0062;AF_female=0.0068;AF_raw=0.0065;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0.0407;AF_nfe=0.0058;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0410;non_neuro_AF_popmax=0.0407;non_cancer_AF_popmax=.;controls_AF_popmax=0.0394;Kaviar_AF=0.0091525;Kaviar_AC=1415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.456756;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179453429 rs72646850 G A 100 PASS AC=4;AF=0.00579073;AN=214;NS=2504;DP=20616;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C35828T:p.T11943I,TTN:NM_133432:exon133:c.C36203T:p.T12068I,TTN:NM_133437:exon133:c.C36404T:p.T12135I,TTN:NM_133378:exon253:c.C55319T:p.T18440I,TTN:NM_001256850:exon254:c.C58100T:p.T19367I,TTN:NM_001267550:exon304:c.C63023T:p.T21008I;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646850;CLNALLELEID=56353;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.392;SIFT_converted_rankscore=0.107;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.17;MutationAssessor_score_rankscore=0.043;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_converted_rankscore=0.032;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.137;MetaSVM_score=-1.071;MetaSVM_rankscore=0.093;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_rankscore=0.203;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.172;REVEL_rankscore=0.442;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.383;CADD_raw_rankscore=0.063;CADD_phred=0.424;DANN_score=0.714;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.052;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.248;Eigen-PC-raw=-1.249;GenoCanyon_score=0.203;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-6.48;GERP++_RS_rankscore=0.017;phyloP100way_vertebrate=1.231;phyloP100way_vertebrate_rankscore=0.320;phyloP20way_mammalian=-0.648;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.079;phastCons20way_mammalian_rankscore=0.180;SiPhy_29way_logOdds=19.640;SiPhy_29way_logOdds_rankscore=0.957;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0163;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0006;AF=0.0077;AF_popmax=0.0130;AF_male=0.0076;AF_female=0.0078;AF_raw=0.0077;AF_afr=0.0023;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0124;AF_fin=0.0006;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0120;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0097153;Kaviar_AC=1502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.010315;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179454394 rs1560221 A G 100 PASS AC=57;AF=0.51238;AN=214;NS=2504;DP=22023;EAS_AF=0.7232;AMR_AF=0.4092;AFR_AF=0.5681;EUR_AF=0.2545;SAS_AF=0.5583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.T34863C:p.Y11621Y,TTN:NM_133432:exon133:c.T35238C:p.Y11746Y,TTN:NM_133437:exon133:c.T35439C:p.Y11813Y,TTN:NM_133378:exon253:c.T54354C:p.Y18118Y,TTN:NM_001256850:exon254:c.T57135C:p.Y19045Y,TTN:NM_001267550:exon304:c.T62058C:p.Y20686Y;1000g2015aug_all=0.51238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1560221;CLNALLELEID=56344;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2249;ExAC_nontcga_ALL=0.3635;ExAC_nontcga_AFR=0.5451;ExAC_nontcga_AMR=0.4331;ExAC_nontcga_EAS=0.7029;ExAC_nontcga_FIN=0.2774;ExAC_nontcga_NFE=0.2340;ExAC_nontcga_OTH=0.3391;ExAC_nontcga_SAS=0.5257;AF=0.3497;AF_popmax=0.7016;AF_male=0.3563;AF_female=0.3413;AF_raw=0.3499;AF_afr=0.5369;AF_sas=.;AF_amr=0.4111;AF_eas=0.7016;AF_nfe=0.2297;AF_fin=0.2690;AF_asj=0.2414;AF_oth=0.3026;non_topmed_AF_popmax=0.7;non_neuro_AF_popmax=0.7016;non_cancer_AF_popmax=.;controls_AF_popmax=0.6885;Kaviar_AF=0.335668;Kaviar_AC=51895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.402423;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179454530 rs199895260 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=22454;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.G34727A:p.R11576Q,TTN:NM_133432:exon133:c.G35102A:p.R11701Q,TTN:NM_133437:exon133:c.G35303A:p.R11768Q,TTN:NM_133378:exon253:c.G54218A:p.R18073Q,TTN:NM_001256850:exon254:c.G56999A:p.R19000Q,TTN:NM_001267550:exon304:c.G61922A:p.R20641Q;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199895260;CLNALLELEID=56342;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.425;MutationAssessor_score_rankscore=0.921;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-3.25;PROVEAN_converted_rankscore=0.652;PROVEAN_pred=D;VEST3_score=0.25;VEST3_rankscore=0.610;MetaSVM_score=-0.035;MetaSVM_rankscore=0.815;MetaSVM_pred=T;MetaLR_score=0.479;MetaLR_rankscore=0.801;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.431;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.623;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.963;DANN_rankscore=0.289;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.839;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.983;Eigen-PC-raw=0.959;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=6.1;GERP++_RS_rankscore=0.991;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.715;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0027;AF_popmax=0.0040;AF_male=0.0022;AF_female=0.0033;AF_raw=0.0027;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0043;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0025614;Kaviar_AC=396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527623;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179455207 rs2163009 T C 100 PASS AC=57;AF=0.51238;AN=214;NS=2504;DP=22493;EAS_AF=0.7232;AMR_AF=0.4078;AFR_AF=0.5688;EUR_AF=0.2545;SAS_AF=0.5583;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A34050G:p.T11350T,TTN:NM_133432:exon133:c.A34425G:p.T11475T,TTN:NM_133437:exon133:c.A34626G:p.T11542T,TTN:NM_133378:exon253:c.A53541G:p.T17847T,TTN:NM_001256850:exon254:c.A56322G:p.T18774T,TTN:NM_001267550:exon304:c.A61245G:p.T20415T;1000g2015aug_all=0.51238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2163009;CLNALLELEID=56335;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2242;ExAC_nontcga_ALL=0.3641;ExAC_nontcga_AFR=0.5471;ExAC_nontcga_AMR=0.4336;ExAC_nontcga_EAS=0.7031;ExAC_nontcga_FIN=0.2776;ExAC_nontcga_NFE=0.2345;ExAC_nontcga_OTH=0.3401;ExAC_nontcga_SAS=0.5263;AF=0.3497;AF_popmax=0.7014;AF_male=0.3563;AF_female=0.3414;AF_raw=0.3502;AF_afr=0.5368;AF_sas=.;AF_amr=0.4100;AF_eas=0.7014;AF_nfe=0.2297;AF_fin=0.2690;AF_asj=0.2414;AF_oth=0.3015;non_topmed_AF_popmax=0.6999;non_neuro_AF_popmax=0.7014;non_cancer_AF_popmax=.;controls_AF_popmax=0.6865;Kaviar_AF=0.339491;Kaviar_AC=52486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.804101;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179455352 rs141973925 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=22262;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.G33905A:p.R11302Q,TTN:NM_133432:exon133:c.G34280A:p.R11427Q,TTN:NM_133437:exon133:c.G34481A:p.R11494Q,TTN:NM_133378:exon253:c.G53396A:p.R17799Q,TTN:NM_001256850:exon254:c.G56177A:p.R18726Q,TTN:NM_001267550:exon304:c.G61100A:p.R20367Q;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141973925;CLNALLELEID=56333;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.017;SIFT_converted_rankscore=0.512;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.975;MutationAssessor_score_rankscore=0.537;MutationAssessor_pred=M;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.227;VEST3_rankscore=0.355;MetaSVM_score=-0.752;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.230;MetaLR_rankscore=0.596;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.258;M-CAP_pred=T;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.890;CADD_raw_rankscore=0.524;CADD_phred=23.5;DANN_score=0.968;DANN_rankscore=0.305;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.774;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.775;Eigen-PC-raw=0.806;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.11;GERP++_RS_rankscore=0.991;phyloP100way_vertebrate=6.058;phyloP100way_vertebrate_rankscore=0.706;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.734;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0026;AF_popmax=0.0044;AF_male=0.0029;AF_female=0.0023;AF_raw=0.0026;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0037839;Kaviar_AC=585;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.286035;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179455595 rs553761018 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21154;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A33662G:p.N11221S,TTN:NM_133432:exon133:c.A34037G:p.N11346S,TTN:NM_133437:exon133:c.A34238G:p.N11413S,TTN:NM_133378:exon253:c.A53153G:p.N17718S,TTN:NM_001256850:exon254:c.A55934G:p.N18645S,TTN:NM_001267550:exon304:c.A60857G:p.N20286S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553761018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.19;SIFT_converted_rankscore=0.211;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.431;MutationTaster_pred=D;MutationAssessor_score=0.835;MutationAssessor_score_rankscore=0.211;MutationAssessor_pred=L;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=D;VEST3_score=0.055;VEST3_rankscore=0.059;MetaSVM_score=-1.022;MetaSVM_rankscore=0.232;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.422;M-CAP_pred=T;REVEL_score=0.095;REVEL_rankscore=0.279;MutPred_score=0.291;MutPred_rankscore=0.253;CADD_raw=0.486;CADD_raw_rankscore=0.141;CADD_phred=7.324;DANN_score=0.831;DANN_rankscore=0.140;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.611;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.212;Eigen-PC-raw=-0.004;GenoCanyon_score=0.671;GenoCanyon_score_rankscore=0.224;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=3.460;phyloP100way_vertebrate_rankscore=0.525;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.204;SiPhy_29way_logOdds_rankscore=0.421;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.527e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.384777;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179456310 rs570125591 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570125591;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179457147 rs16866406 G A 100 PASS AC=27;AF=0.213059;AN=214;NS=2504;DP=19552;EAS_AF=0.4573;AMR_AF=0.1527;AFR_AF=0.0666;EUR_AF=0.1392;SAS_AF=0.2781;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon129:c.C32390T:p.P10797L,TTN:NM_133432:exon130:c.C32765T:p.P10922L,TTN:NM_133437:exon130:c.C32966T:p.P10989L,TTN:NM_133378:exon250:c.C51881T:p.P17294L,TTN:NM_001256850:exon251:c.C54662T:p.P18221L,TTN:NM_001267550:exon301:c.C59585T:p.P19862L;1000g2015aug_all=0.213059;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866406;CLNALLELEID=56317;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.165;SIFT_converted_rankscore=0.241;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.206;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=P;MutationAssessor_score=1.525;MutationAssessor_score_rankscore=0.387;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-6.6;PROVEAN_converted_rankscore=0.920;PROVEAN_pred=D;VEST3_score=0.376;VEST3_rankscore=0.437;MetaSVM_score=-1.003;MetaSVM_rankscore=0.290;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.190;REVEL_rankscore=0.473;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.159;CADD_raw_rankscore=0.321;CADD_phred=17.24;DANN_score=0.920;DANN_rankscore=0.207;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.709;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.220;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.16;GERP++_RS_rankscore=0.704;phyloP100way_vertebrate=4.761;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.532;SiPhy_29way_logOdds_rankscore=0.553;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1799;ExAC_nontcga_AFR=0.0680;ExAC_nontcga_AMR=0.1528;ExAC_nontcga_EAS=0.4324;ExAC_nontcga_FIN=0.1479;ExAC_nontcga_NFE=0.1466;ExAC_nontcga_OTH=0.1710;ExAC_nontcga_SAS=0.2600;AF=0.1446;AF_popmax=0.4438;AF_male=0.1452;AF_female=0.1439;AF_raw=0.1447;AF_afr=0.0737;AF_sas=.;AF_amr=0.1608;AF_eas=0.4438;AF_nfe=0.1522;AF_fin=0.1486;AF_asj=0.1138;AF_oth=0.1673;non_topmed_AF_popmax=0.4417;non_neuro_AF_popmax=0.4438;non_cancer_AF_popmax=.;controls_AF_popmax=0.4330;Kaviar_AF=0.168329;Kaviar_AC=26024;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.571913;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179457446 rs72646841 A G 100 PASS 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Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179457457 rs569639812 G T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179457928 rs139656306 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20905;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon127:c.C31812A:p.S10604S,TTN:NM_133432:exon128:c.C32187A:p.S10729S,TTN:NM_133437:exon128:c.C32388A:p.S10796S,TTN:NM_133378:exon248:c.C51303A:p.S17101S,TTN:NM_001256850:exon249:c.C54084A:p.S18028S,TTN:NM_001267550:exon299:c.C59007A:p.S19669S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139656306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.506e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299100;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179458591 rs2288569 C T 100 PASS AC=27;AF=0.21246;AN=214;NS=2504;DP=20497;EAS_AF=0.4544;AMR_AF=0.1513;AFR_AF=0.0666;EUR_AF=0.1402;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon126:c.G31241A:p.R10414H,TTN:NM_133432:exon127:c.G31616A:p.R10539H,TTN:NM_133437:exon127:c.G31817A:p.R10606H,TTN:NM_133378:exon247:c.G50732A:p.R16911H,TTN:NM_001256850:exon248:c.G53513A:p.R17838H,TTN:NM_001267550:exon298:c.G58436A:p.R19479H;1000g2015aug_all=0.21246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288569;CLNALLELEID=56301;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=3.365;MutationAssessor_score_rankscore=0.914;MutationAssessor_pred=M;FATHMM_score=0.93;FATHMM_converted_rankscore=0.441;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_converted_rankscore=0.710;PROVEAN_pred=D;VEST3_score=0.175;VEST3_rankscore=0.320;MetaSVM_score=-1.027;MetaSVM_rankscore=0.213;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.463;REVEL_rankscore=0.762;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.706;CADD_raw_rankscore=0.631;CADD_phred=24.6;DANN_score=0.949;DANN_rankscore=0.252;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.983;Eigen-PC-raw=0.963;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=7.847;phyloP100way_vertebrate_rankscore=0.851;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1791;ExAC_nontcga_AFR=0.0685;ExAC_nontcga_AMR=0.1531;ExAC_nontcga_EAS=0.4293;ExAC_nontcga_FIN=0.1475;ExAC_nontcga_NFE=0.1469;ExAC_nontcga_OTH=0.1706;ExAC_nontcga_SAS=0.2605;AF=0.1445;AF_popmax=0.4373;AF_male=0.1454;AF_female=0.1432;AF_raw=0.1446;AF_afr=0.0743;AF_sas=.;AF_amr=0.1608;AF_eas=0.4373;AF_nfe=0.1521;AF_fin=0.1501;AF_asj=0.1138;AF_oth=0.1664;non_topmed_AF_popmax=0.4350;non_neuro_AF_popmax=0.4373;non_cancer_AF_popmax=.;controls_AF_popmax=0.4312;Kaviar_AF=0.17005;Kaviar_AC=26290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.179832;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179460433 rs55956577 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17311;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon123:c.C30453T:p.I10151I,TTN:NM_133432:exon124:c.C30828T:p.I10276I,TTN:NM_133437:exon124:c.C31029T:p.I10343I,TTN:NM_133378:exon244:c.C49944T:p.I16648I,TTN:NM_001256850:exon245:c.C52725T:p.I17575I,TTN:NM_001267550:exon295:c.C57648T:p.I19216I;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55956577;CLNALLELEID=56292;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0063;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0.0290;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035963;Kaviar_AC=556;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.061917;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179460557 rs72646834 A T 100 PASS AC=5;AF=0.0285543;AN=214;NS=2504;DP=18770;EAS_AF=0.0605;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0422;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.0659;ExAC_nontcga_EAS=0.1145;ExAC_nontcga_FIN=0.0729;ExAC_nontcga_NFE=0.0383;ExAC_nontcga_OTH=0.0472;ExAC_nontcga_SAS=0.0323;AF=0.0246;AF_popmax=0.0577;AF_male=0.0240;AF_female=0.0252;AF_raw=0.0246;AF_afr=0.0049;AF_sas=.;AF_amr=0.0224;AF_eas=0.0577;AF_nfe=0.0254;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0303;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0577;non_cancer_AF_popmax=.;controls_AF_popmax=0.0493;Kaviar_AF=0.0235702;Kaviar_AC=3644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179462494 rs35833641 A G 100 PASS AC=50;AF=0.126997;AN=214;NS=2504;DP=20014;EAS_AF=0.0387;AMR_AF=0.1124;AFR_AF=0.0053;EUR_AF=0.3072;SAS_AF=0.2076;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon122:c.T30120C:p.H10040H,TTN:NM_133432:exon123:c.T30495C:p.H10165H,TTN:NM_133437:exon123:c.T30696C:p.H10232H,TTN:NM_133378:exon243:c.T49611C:p.H16537H,TTN:NM_001256850:exon244:c.T52392C:p.H17464H,TTN:NM_001267550:exon294:c.T57315C:p.H19105H;1000g2015aug_all=0.126997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35833641;CLNALLELEID=56285;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3001;ExAC_nontcga_ALL=0.2314;ExAC_nontcga_AFR=0.0459;ExAC_nontcga_AMR=0.0966;ExAC_nontcga_EAS=0.0347;ExAC_nontcga_FIN=0.3973;ExAC_nontcga_NFE=0.3004;ExAC_nontcga_OTH=0.2631;ExAC_nontcga_SAS=0.2133;AF=0.2347;AF_popmax=0.3239;AF_male=0.2263;AF_female=0.2453;AF_raw=0.2347;AF_afr=0.0508;AF_sas=.;AF_amr=0.1321;AF_eas=0.0433;AF_nfe=0.3239;AF_fin=0.3926;AF_asj=0.1897;AF_oth=0.3006;non_topmed_AF_popmax=0.3332;non_neuro_AF_popmax=0.3207;non_cancer_AF_popmax=.;controls_AF_popmax=0.3494;Kaviar_AF=0.234699;Kaviar_AC=36285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.777310;ALLELE_END GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179462580 rs527943187 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527943187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.53e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527943187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.53e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179462796 rs553667328 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18957;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553667328;CLNALLELEID=172875;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.106;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.901e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=6.374e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=7.185e-05;AF_raw=6.367e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 179463422 rs72646829 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=19113;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0012;AF=0.0050;AF_popmax=0.0083;AF_male=0.0047;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0.0007;AF_nfe=0.0080;AF_fin=0.0014;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.005912;Kaviar_AC=914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0012;AF=0.0050;AF_popmax=0.0083;AF_male=0.0047;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0.0007;AF_nfe=0.0080;AF_fin=0.0014;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179463446 rs3214578 T TA 100 PASS AC=9;AF=0.0265575;AN=214;NS=2504;DP=19147;EAS_AF=0.0605;AMR_AF=0.036;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0061;AA=AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0295;ExAC_nontcga_ALL=0.0309;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0390;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0540;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0077;AF=0.0274;AF_popmax=0.0575;AF_male=0.0273;AF_female=0.0274;AF_raw=0.0272;AF_afr=0.0058;AF_sas=.;AF_amr=0.0333;AF_eas=0.0575;AF_nfe=0.0296;AF_fin=0.0536;AF_asj=0.0312;AF_oth=0.0362;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0010479;Kaviar_AC=162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0295;ExAC_nontcga_ALL=0.0309;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0390;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0540;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0077;AF=0.0274;AF_popmax=0.0575;AF_male=0.0273;AF_female=0.0274;AF_raw=0.0272;AF_afr=0.0058;AF_sas=.;AF_amr=0.0333;AF_eas=0.0575;AF_nfe=0.0296;AF_fin=0.0536;AF_asj=0.0312;AF_oth=0.0362;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0010479;Kaviar_AC=162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179463823 rs182163713 T A 100 PASS AC=5;AF=0.00658946;AN=214;NS=2504;DP=20247;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0153;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182163713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0186;AF=0.0040;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0013;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0066;AF_fin=0;AF_asj=0;AF_oth=0.0056;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0012225;Kaviar_AC=189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182163713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0186;AF=0.0040;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0013;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0066;AF_fin=0;AF_asj=0;AF_oth=0.0056;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0012225;Kaviar_AC=189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179463991 rs72646827 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19454;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon118:c.G29334A:p.T9778T,TTN:NM_133432:exon119:c.G29709A:p.T9903T,TTN:NM_133437:exon119:c.G29910A:p.T9970T,TTN:NM_133378:exon239:c.G48825A:p.T16275T,TTN:NM_001256850:exon240:c.G51606A:p.T17202T,TTN:NM_001267550:exon290:c.G56529A:p.T18843T;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646827;CLNALLELEID=56276;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=0.0067;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0086933;Kaviar_AC=1344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.229485;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179464245 rs2288568 A G 100 PASS AC=5;AF=0.0285543;AN=214;NS=2504;DP=22646;EAS_AF=0.0605;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0225;ExAC_nontcga_ALL=0.0320;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0363;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0532;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0294;ExAC_nontcga_SAS=0.0309;AF=0.0246;AF_popmax=0.0581;AF_male=0.0241;AF_female=0.0254;AF_raw=0.0246;AF_afr=0.0049;AF_sas=.;AF_amr=0.0225;AF_eas=0.0581;AF_nfe=0.0255;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0303;non_topmed_AF_popmax=0.0589;non_neuro_AF_popmax=0.0581;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0270566;Kaviar_AC=4183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179464527 rs1001238 T C 100 PASS AC=57;AF=0.51278;AN=214;NS=2504;DP=19770;EAS_AF=0.7252;AMR_AF=0.4078;AFR_AF=0.5688;EUR_AF=0.2535;SAS_AF=0.5593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon117:c.A28906G:p.N9636D,TTN:NM_133432:exon118:c.A29281G:p.N9761D,TTN:NM_133437:exon118:c.A29482G:p.N9828D,TTN:NM_133378:exon238:c.A48397G:p.N16133D,TTN:NM_001256850:exon239:c.A51178G:p.N17060D,TTN:NM_001267550:exon289:c.A56101G:p.N18701D;1000g2015aug_all=0.51278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1001238;CLNALLELEID=56275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.945;MutationTaster_converted_rankscore=0.267;MutationTaster_pred=P;MutationAssessor_score=-0.515;MutationAssessor_score_rankscore=0.026;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=2.75;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.003;MetaSVM_score=-0.985;MetaSVM_rankscore=0.340;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.157;CADD_raw_rankscore=0.320;CADD_phred=17.23;DANN_score=0.932;DANN_rankscore=0.222;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.098;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.357;Eigen-PC-raw=-0.108;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.125;phyloP100way_vertebrate_rankscore=0.712;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=14.793;SiPhy_29way_logOdds_rankscore=0.693;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2261;ExAC_nontcga_ALL=0.3649;ExAC_nontcga_AFR=0.5456;ExAC_nontcga_AMR=0.4346;ExAC_nontcga_EAS=0.7037;ExAC_nontcga_FIN=0.2783;ExAC_nontcga_NFE=0.2354;ExAC_nontcga_OTH=0.3406;ExAC_nontcga_SAS=0.5322;AF=0.3499;AF_popmax=0.6995;AF_male=0.3568;AF_female=0.3413;AF_raw=0.3505;AF_afr=0.5367;AF_sas=.;AF_amr=0.4125;AF_eas=0.6995;AF_nfe=0.2300;AF_fin=0.2699;AF_asj=0.2414;AF_oth=0.3029;non_topmed_AF_popmax=0.6978;non_neuro_AF_popmax=0.6995;non_cancer_AF_popmax=.;controls_AF_popmax=0.6843;Kaviar_AF=0.340966;Kaviar_AC=52714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386272;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179464637 rs72646825 A T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646825;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0040;AF_popmax=0.0021;AF_male=0.0032;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179465706 rs140714512 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon116:c.T28730A:p.L9577Q,TTN:NM_133432:exon117:c.T29105A:p.L9702Q,TTN:NM_133437:exon117:c.T29306A:p.L9769Q,TTN:NM_133378:exon237:c.T48221A:p.L16074Q,TTN:NM_001256850:exon238:c.T51002A:p.L17001Q,TTN:NM_001267550:exon288:c.T55925A:p.L18642Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140714512;CLNALLELEID=172879;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_rankscore=0.464;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.678;Polyphen2_HVAR_rankscore=0.516;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=0.96;MutationAssessor_score_rankscore=0.240;MutationAssessor_pred=L;FATHMM_score=0.48;FATHMM_converted_rankscore=0.560;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.640;PROVEAN_pred=D;VEST3_score=0.426;VEST3_rankscore=0.596;MetaSVM_score=-0.857;MetaSVM_rankscore=0.515;MetaSVM_pred=T;MetaLR_score=0.179;MetaLR_rankscore=0.526;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.590;M-CAP_pred=D;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.091;CADD_raw_rankscore=0.199;CADD_phred=11.17;DANN_score=0.772;DANN_rankscore=0.114;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_rankscore=0.672;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.301;Eigen-PC-raw=0.259;GenoCanyon_score=0.859;GenoCanyon_score_rankscore=0.252;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.34;GERP++_RS_rankscore=0.511;phyloP100way_vertebrate=3.582;phyloP100way_vertebrate_rankscore=0.534;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.749;phastCons100way_vertebrate_rankscore=0.289;phastCons20way_mammalian=0.336;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=3.626;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004592;Kaviar_AC=71;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.204063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179466859 rs72646819 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18768;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon112:c.T27944C:p.I9315T,TTN:NM_133432:exon113:c.T28319C:p.I9440T,TTN:NM_133437:exon113:c.T28520C:p.I9507T,TTN:NM_133378:exon233:c.T47435C:p.I15812T,TTN:NM_001256850:exon234:c.T50216C:p.I16739T,TTN:NM_001267550:exon284:c.T55139C:p.I18380T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646819;CLNALLELEID=56266;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.791;Polyphen2_HDIV_rankscore=0.427;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.212;Polyphen2_HVAR_rankscore=0.357;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.477;MutationTaster_pred=D;MutationAssessor_score=1.13;MutationAssessor_score_rankscore=0.290;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.357;VEST3_rankscore=0.528;MetaSVM_score=-0.560;MetaSVM_rankscore=0.664;MetaSVM_pred=T;MetaLR_score=0.232;MetaLR_rankscore=0.598;MetaLR_pred=T;M-CAP_score=0.096;M-CAP_rankscore=0.766;M-CAP_pred=D;REVEL_score=0.332;REVEL_rankscore=0.658;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.502;CADD_raw_rankscore=0.362;CADD_phred=19.48;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.500;Eigen-PC-raw=0.595;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=8.863;phyloP100way_vertebrate_rankscore=0.918;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.100;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.753e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.266e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.257e-05;AF=6.375e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.970412;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179467070 rs553295928 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon111:c.T27864C:p.N9288N,TTN:NM_133432:exon112:c.T28239C:p.N9413N,TTN:NM_133437:exon112:c.T28440C:p.N9480N,TTN:NM_133378:exon232:c.T47355C:p.N15785N,TTN:NM_001256850:exon233:c.T50136C:p.N16712N,TTN:NM_001267550:exon283:c.T55059C:p.N18353N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553295928;CLNALLELEID=391970;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.81e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.385e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.808645;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179467226 rs190830121 G C 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15658;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon111:c.C27708G:p.G9236G,TTN:NM_133432:exon112:c.C28083G:p.G9361G,TTN:NM_133437:exon112:c.C28284G:p.G9428G,TTN:NM_133378:exon232:c.C47199G:p.G15733G,TTN:NM_001256850:exon233:c.C49980G:p.G16660G,TTN:NM_001267550:exon283:c.C54903G:p.G18301G;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190830121;CLNALLELEID=173864;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.876456;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179468704 rs201412693 A G 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon110:c.T27515C:p.L9172P,TTN:NM_133432:exon111:c.T27890C:p.L9297P,TTN:NM_133437:exon111:c.T28091C:p.L9364P,TTN:NM_133378:exon231:c.T47006C:p.L15669P,TTN:NM_001256850:exon232:c.T49787C:p.L16596P,TTN:NM_001267550:exon282:c.T54710C:p.L18237P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201412693;CLNALLELEID=189591;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.450;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_rankscore=0.154;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.465;MutationTaster_pred=D;MutationAssessor_score=1.09;MutationAssessor_score_rankscore=0.274;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-3.7;PROVEAN_converted_rankscore=0.718;PROVEAN_pred=D;VEST3_score=0.275;VEST3_rankscore=0.390;MetaSVM_score=-1.013;MetaSVM_rankscore=0.260;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_rankscore=0.392;MetaLR_pred=T;M-CAP_score=0.067;M-CAP_rankscore=0.701;M-CAP_pred=D;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.896;CADD_raw_rankscore=0.289;CADD_phred=15.56;DANN_score=0.878;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.679;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.134;Eigen-PC-raw=0.053;GenoCanyon_score=0.251;GenoCanyon_score_rankscore=0.187;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.92;GERP++_RS_rankscore=0.640;phyloP100way_vertebrate=5.347;phyloP100way_vertebrate_rankscore=0.655;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=9.695;SiPhy_29way_logOdds_rankscore=0.391;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0035;AF_male=0.0008;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.668818;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179469386 rs10497518 A G 100 PASS AC=12;AF=0.119209;AN=214;NS=2504;DP=19333;EAS_AF=0.253;AMR_AF=0.0504;AFR_AF=0.1271;EUR_AF=0.0497;SAS_AF=0.091;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.119209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0358;ExAC_nontcga_ALL=0.0736;ExAC_nontcga_AFR=0.1236;ExAC_nontcga_AMR=0.0488;ExAC_nontcga_EAS=0.2299;ExAC_nontcga_FIN=0.0906;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0647;ExAC_nontcga_SAS=0.0943;AF=0.0779;AF_popmax=0.2167;AF_male=0.0810;AF_female=0.0741;AF_raw=0.0780;AF_afr=0.1274;AF_sas=.;AF_amr=0.0426;AF_eas=0.2167;AF_nfe=0.0365;AF_fin=0.0906;AF_asj=0.0586;AF_oth=0.0671;non_topmed_AF_popmax=0.2182;non_neuro_AF_popmax=0.2167;non_cancer_AF_popmax=.;controls_AF_popmax=0.1851;Kaviar_AF=0.0654519;Kaviar_AC=10119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179470047 rs2303833 C A 100 PASS AC=7;AF=0.0832668;AN=214;NS=2504;DP=22171;EAS_AF=0.1558;AMR_AF=0.0231;AFR_AF=0.1263;EUR_AF=0.0209;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0133;ExAC_nontcga_ALL=0.0428;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0.1370;ExAC_nontcga_FIN=0.0399;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0483;ExAC_nontcga_SAS=0.0738;AF=0.0518;AF_popmax=0.1262;AF_male=0.0547;AF_female=0.0482;AF_raw=0.0519;AF_afr=0.1215;AF_sas=.;AF_amr=0.0189;AF_eas=0.1262;AF_nfe=0.0117;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0378;non_topmed_AF_popmax=0.1274;non_neuro_AF_popmax=0.1262;non_cancer_AF_popmax=.;controls_AF_popmax=0.1111;Kaviar_AF=0.0332143;Kaviar_AC=5135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179472223 rs72646809 A G 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=20475;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.T25997C:p.I8666T,TTN:NM_133432:exon106:c.T26372C:p.I8791T,TTN:NM_133437:exon106:c.T26573C:p.I8858T,TTN:NM_133378:exon226:c.T45488C:p.I15163T,TTN:NM_001256850:exon227:c.T48269C:p.I16090T,TTN:NM_001267550:exon277:c.T53192C:p.I17731T;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646809;CLNALLELEID=56239;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.275;MutationAssessor_score_rankscore=0.982;MutationAssessor_pred=H;FATHMM_score=-1.28;FATHMM_converted_rankscore=0.794;FATHMM_pred=T;PROVEAN_score=-3.74;PROVEAN_converted_rankscore=0.749;PROVEAN_pred=D;VEST3_score=0.311;VEST3_rankscore=0.667;MetaSVM_score=0.530;MetaSVM_rankscore=0.910;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_rankscore=0.872;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.801;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.046;CADD_raw_rankscore=0.307;CADD_phred=16.50;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.953;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.023;Eigen-PC-raw=0.962;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=8.889;phyloP100way_vertebrate_rankscore=0.920;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.494;SiPhy_29way_logOdds_rankscore=0.840;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0390;ExAC_nontcga_NFE=0.0171;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0100;AF=0.0137;AF_popmax=0.0147;AF_male=0.0123;AF_female=0.0154;AF_raw=0.0137;AF_afr=0.0017;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0406;AF_asj=0.0207;AF_oth=0.0285;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0150;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0122832;Kaviar_AC=1899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.157111;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472292 rs2303832 T A 100 PASS AC=3;AF=0.0295527;AN=214;NS=2504;DP=18802;EAS_AF=0.0992;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0239;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.A25928T:p.K8643I,TTN:NM_133432:exon106:c.A26303T:p.K8768I,TTN:NM_133437:exon106:c.A26504T:p.K8835I,TTN:NM_133378:exon226:c.A45419T:p.K15140I,TTN:NM_001256850:exon227:c.A48200T:p.K16067I,TTN:NM_001267550:exon277:c.A53123T:p.K17708I;1000g2015aug_all=0.0295527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.352;SIFT_converted_rankscore=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.229;MutationTaster_pred=N;MutationAssessor_score=3.04;MutationAssessor_score_rankscore=0.868;MutationAssessor_pred=M;FATHMM_score=0.6;FATHMM_converted_rankscore=0.537;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.303;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.156;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.037;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.552;CADD_raw_rankscore=0.248;CADD_phred=13.59;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.366;fathmm-MKL_coding_rankscore=0.253;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.273;Eigen-PC-raw=-0.230;GenoCanyon_score=0.011;GenoCanyon_score_rankscore=0.121;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.531;GERP++_RS_rankscore=0.162;phyloP100way_vertebrate=1.876;phyloP100way_vertebrate_rankscore=0.390;phyloP20way_mammalian=0.124;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.890;phastCons100way_vertebrate_rankscore=0.310;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=11.796;SiPhy_29way_logOdds_rankscore=0.512;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0204;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0348;ExAC_nontcga_EAS=0.1049;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0261;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0070;AF=0.0248;AF_popmax=0.0905;AF_male=0.0251;AF_female=0.0245;AF_raw=0.0249;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0905;AF_nfe=0.0232;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0792;Kaviar_AF=0.0269919;Kaviar_AC=4173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.739847;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472319 rs72646808 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=16817;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.G25901A:p.R8634H,TTN:NM_133432:exon106:c.G26276A:p.R8759H,TTN:NM_133437:exon106:c.G26477A:p.R8826H,TTN:NM_133378:exon226:c.G45392A:p.R15131H,TTN:NM_001256850:exon227:c.G48173A:p.R16058H,TTN:NM_001267550:exon277:c.G53096A:p.R17699H;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646808;CLNALLELEID=56235;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.971;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.25;MutationAssessor_score_rankscore=0.319;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-3.81;PROVEAN_converted_rankscore=0.740;PROVEAN_pred=D;VEST3_score=0.223;VEST3_rankscore=0.425;MetaSVM_score=-0.252;MetaSVM_rankscore=0.763;MetaSVM_pred=T;MetaLR_score=0.407;MetaLR_rankscore=0.757;MetaLR_pred=T;M-CAP_score=0.037;M-CAP_rankscore=0.572;M-CAP_pred=D;REVEL_score=0.365;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.630;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.921;DANN_rankscore=0.209;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.569;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.654;Eigen-PC-raw=0.682;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=4.491;phyloP100way_vertebrate_rankscore=0.598;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=20.478;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0018;AF_male=0.0010;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.771092;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179472693 rs2303831 A G 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=19054;EAS_AF=0.0992;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon104:c.T25626C:p.D8542D,TTN:NM_133432:exon105:c.T26001C:p.D8667D,TTN:NM_133437:exon105:c.T26202C:p.D8734D,TTN:NM_133378:exon225:c.T45117C:p.D15039D,TTN:NM_001256850:exon226:c.T47898C:p.D15966D,TTN:NM_001267550:exon276:c.T52821C:p.D17607D;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303831;CLNALLELEID=56230;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.1059;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0263;ExAC_nontcga_OTH=0.0319;ExAC_nontcga_SAS=0.0097;AF=0.0248;AF_popmax=0.0903;AF_male=0.0251;AF_female=0.0244;AF_raw=0.0249;AF_afr=0.0049;AF_sas=.;AF_amr=0.0236;AF_eas=0.0903;AF_nfe=0.0231;AF_fin=0.0518;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0905;non_neuro_AF_popmax=0.0903;non_cancer_AF_popmax=.;controls_AF_popmax=0.0779;Kaviar_AF=0.0282079;Kaviar_AC=4361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031019;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472825 rs72646807 T C 100 PASS AC=14;AF=0.0107827;AN=214;NS=2504;DP=21267;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0015;EUR_AF=0.0328;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646807;CLNALLELEID=141499;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0166;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0199;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0246;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0083;AF=0.0133;AF_popmax=0.0259;AF_male=0.0138;AF_female=0.0128;AF_raw=0.0133;AF_afr=0.0036;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0208;AF_fin=0.0029;AF_asj=0.0483;AF_oth=0.0184;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0307;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179473238 rs530961925 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21524;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530961925;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179473705 rs577545799 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19407;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577545799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179474075 rs530304166 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon101:c.G24767A:p.R8256H,TTN:NM_133432:exon102:c.G25142A:p.R8381H,TTN:NM_133437:exon102:c.G25343A:p.R8448H,TTN:NM_133378:exon222:c.G44258A:p.R14753H,TTN:NM_001256850:exon223:c.G47039A:p.R15680H,TTN:NM_001267550:exon273:c.G51962A:p.R17321H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530304166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.026;SIFT_converted_rankscore=0.469;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.68;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.662;PROVEAN_pred=D;VEST3_score=0.266;VEST3_rankscore=0.432;MetaSVM_score=-0.404;MetaSVM_rankscore=0.719;MetaSVM_pred=T;MetaLR_score=0.331;MetaLR_rankscore=0.699;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.677;M-CAP_pred=D;REVEL_score=0.384;REVEL_rankscore=0.705;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.675;CADD_raw_rankscore=0.499;CADD_phred=23.3;DANN_score=0.937;DANN_rankscore=0.231;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.923;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.798;Eigen-PC-raw=0.762;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.576;phyloP100way_vertebrate_rankscore=0.816;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.918;phastCons20way_mammalian_rankscore=0.393;SiPhy_29way_logOdds=19.880;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.918e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.2e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.878535;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179474466 rs2288566 C T 100 PASS AC=3;AF=0.0299521;AN=214;NS=2504;DP=19383;EAS_AF=0.0972;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.G24489A:p.A8163A,TTN:NM_133432:exon101:c.G24864A:p.A8288A,TTN:NM_133437:exon101:c.G25065A:p.A8355A,TTN:NM_133378:exon221:c.G43980A:p.A14660A,TTN:NM_001256850:exon222:c.G46761A:p.A15587A,TTN:NM_001267550:exon272:c.G51684A:p.A17228A;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288566;CLNALLELEID=56221;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0204;ExAC_nontcga_ALL=0.0297;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.1018;ExAC_nontcga_FIN=0.0520;ExAC_nontcga_NFE=0.0263;ExAC_nontcga_OTH=0.0309;ExAC_nontcga_SAS=0.0073;AF=0.0245;AF_popmax=0.0863;AF_male=0.0248;AF_female=0.0241;AF_raw=0.0245;AF_afr=0.0046;AF_sas=.;AF_amr=0.0225;AF_eas=0.0863;AF_nfe=0.0232;AF_fin=0.0518;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0877;non_neuro_AF_popmax=0.0863;non_cancer_AF_popmax=.;controls_AF_popmax=0.0756;Kaviar_AF=0.0266361;Kaviar_AC=4118;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156662;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179474668 rs16866412 G A 100 PASS AC=7;AF=0.0726837;AN=214;NS=2504;DP=21482;EAS_AF=0.1558;AMR_AF=0.0216;AFR_AF=0.087;EUR_AF=0.0209;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.C24287T:p.A8096V,TTN:NM_133432:exon101:c.C24662T:p.A8221V,TTN:NM_133437:exon101:c.C24863T:p.A8288V,TTN:NM_133378:exon221:c.C43778T:p.A14593V,TTN:NM_001256850:exon222:c.C46559T:p.A15520V,TTN:NM_001267550:exon272:c.C51482T:p.A17161V;1000g2015aug_all=0.0726837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866412;CLNALLELEID=56218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.609;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.535;Polyphen2_HVAR_rankscore=0.542;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.479;MutationTaster_pred=P;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.3;FATHMM_converted_rankscore=0.588;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=D;VEST3_score=0.247;VEST3_rankscore=0.367;MetaSVM_score=-1.155;MetaSVM_rankscore=0.009;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.305;REVEL_rankscore=0.630;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.431;CADD_raw_rankscore=0.470;CADD_phred=23.0;DANN_score=0.976;DANN_rankscore=0.344;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.979;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.723;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=7.948;phyloP100way_vertebrate_rankscore=0.872;phyloP20way_mammalian=0.075;phyloP20way_mammalian_rankscore=0.182;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.936;phastCons20way_mammalian_rankscore=0.409;SiPhy_29way_logOdds=19.842;SiPhy_29way_logOdds_rankscore=0.967;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=0.0361;ExAC_nontcga_AFR=0.0759;ExAC_nontcga_AMR=0.0121;ExAC_nontcga_EAS=0.1289;ExAC_nontcga_FIN=0.0384;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0377;ExAC_nontcga_SAS=0.0596;AF=0.0392;AF_popmax=0.1303;AF_male=0.0414;AF_female=0.0366;AF_raw=0.0393;AF_afr=0.0763;AF_sas=.;AF_amr=0.0189;AF_eas=0.1303;AF_nfe=0.0114;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0331;non_topmed_AF_popmax=0.1316;non_neuro_AF_popmax=0.1303;non_cancer_AF_popmax=.;controls_AF_popmax=0.1102;Kaviar_AF=0.0323605;Kaviar_AC=5003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.569477;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179474787 rs140497184 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23124;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140497184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036804;Kaviar_AC=569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477267 rs36043230 T G 100 PASS AC=3;AF=0.00638978;AN=214;NS=2504;DP=19436;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0169;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon94:c.A22790C:p.N7597T,TTN:NM_133432:exon95:c.A23165C:p.N7722T,TTN:NM_133437:exon95:c.A23366C:p.N7789T,TTN:NM_133378:exon215:c.A42281C:p.N14094T,TTN:NM_001256850:exon216:c.A45062C:p.N15021T,TTN:NM_001267550:exon266:c.A49985C:p.N16662T;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36043230;CLNALLELEID=56202;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.169;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_rankscore=0.527;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.715;Polyphen2_HVAR_rankscore=0.528;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.428;MutationTaster_pred=D;MutationAssessor_score=2.025;MutationAssessor_score_rankscore=0.556;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-3.93;PROVEAN_converted_rankscore=0.740;PROVEAN_pred=D;VEST3_score=0.203;VEST3_rankscore=0.356;MetaSVM_score=-0.719;MetaSVM_rankscore=0.595;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_rankscore=0.450;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.328;REVEL_rankscore=0.654;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.693;CADD_raw_rankscore=0.265;CADD_phred=14.37;DANN_score=0.911;DANN_rankscore=0.198;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.566;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.537;GenoCanyon_score=0.645;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=2.689;phyloP100way_vertebrate_rankscore=0.464;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.977;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0153;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0232;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0080;AF=0.0139;AF_popmax=0.0202;AF_male=0.0146;AF_female=0.0130;AF_raw=0.0138;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0202;AF_fin=0.0147;AF_asj=0.0621;AF_oth=0.0231;non_topmed_AF_popmax=0.0169;non_neuro_AF_popmax=0.0205;non_cancer_AF_popmax=.;controls_AF_popmax=0.0147;Kaviar_AF=0.015472;Kaviar_AC=2392;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.093837;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477332 rs542590438;rs540117024;rs544337750 ATT AT 100 PASS AC=55;AF=0.511182;AN=214;NS=2504;DP=20485;EAS_AF=0.7222;AMR_AF=0.4135;AFR_AF=0.5628;EUR_AF=0.2535;SAS_AF=0.5583;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179477435 rs554001139 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20046;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554001139;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477476 rs72677248 T G 100 PASS AC=5;AF=0.0361422;AN=214;NS=2504;DP=18795;EAS_AF=0.0982;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0386;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0421;ExAC_nontcga_EAS=0.1192;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0318;ExAC_nontcga_OTH=0.0343;ExAC_nontcga_SAS=0.0329;AF=0.0260;AF_popmax=0.0918;AF_male=0.0262;AF_female=0.0258;AF_raw=0.0260;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0918;AF_nfe=0.0251;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0921;non_neuro_AF_popmax=0.0918;non_cancer_AF_popmax=.;controls_AF_popmax=0.0795;Kaviar_AF=0.031041;Kaviar_AC=4799;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477529 rs55663050 C G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17879;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55663050;CLNALLELEID=56201;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.197;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.295;MutationAssessor_score_rankscore=0.326;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.511;PROVEAN_pred=N;VEST3_score=0.175;VEST3_rankscore=0.297;MetaSVM_score=-0.155;MetaSVM_rankscore=0.788;MetaSVM_pred=T;MetaLR_score=0.443;MetaLR_rankscore=0.780;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.233;REVEL_rankscore=0.540;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.501;CADD_raw_rankscore=0.362;CADD_phred=19.47;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.873;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.782;Eigen-PC-raw=0.791;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.85;SiPhy_29way_logOdds_rankscore=0.967;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.127878;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477717 rs2115558 A G 100 PASS AC=7;AF=0.0736821;AN=214;NS=2504;DP=19169;EAS_AF=0.1577;AMR_AF=0.0231;AFR_AF=0.0885;EUR_AF=0.0209;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.T22536C:p.H7512H,TTN:NM_133432:exon94:c.T22911C:p.H7637H,TTN:NM_133437:exon94:c.T23112C:p.H7704H,TTN:NM_133378:exon214:c.T42027C:p.H14009H,TTN:NM_001256850:exon215:c.T44808C:p.H14936H,TTN:NM_001267550:exon265:c.T49731C:p.H16577H;1000g2015aug_all=0.0736821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2115558;CLNALLELEID=56200;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0362;ExAC_nontcga_AFR=0.0765;ExAC_nontcga_AMR=0.0120;ExAC_nontcga_EAS=0.1319;ExAC_nontcga_FIN=0.0388;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0592;AF=0.0394;AF_popmax=0.1323;AF_male=0.0415;AF_female=0.0369;AF_raw=0.0394;AF_afr=0.0770;AF_sas=.;AF_amr=0.0189;AF_eas=0.1323;AF_nfe=0.0114;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0322;non_topmed_AF_popmax=0.1335;non_neuro_AF_popmax=0.1323;non_cancer_AF_popmax=.;controls_AF_popmax=0.1116;Kaviar_AF=0.0325352;Kaviar_AC=5030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.645943;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179477802 rs568516434 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19132;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568516434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0267;dbscSNV_RF_SCORE=0.274;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.862e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.547e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.501613;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179478639 rs146163169 T A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18166;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon91:c.A22176T:p.L7392L,TTN:NM_133432:exon92:c.A22551T:p.L7517L,TTN:NM_133437:exon92:c.A22752T:p.L7584L,TTN:NM_133378:exon212:c.A41667T:p.L13889L,TTN:NM_001256850:exon213:c.A44448T:p.L14816L,TTN:NM_001267550:exon263:c.A49371T:p.L16457L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146163169;CLNALLELEID=56193;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.081437;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179478829 rs547225882 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20092;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon90:c.G22100A:p.G7367D,TTN:NM_133432:exon91:c.G22475A:p.G7492D,TTN:NM_133437:exon91:c.G22676A:p.G7559D,TTN:NM_133378:exon211:c.G41591A:p.G13864D,TTN:NM_001256850:exon212:c.G44372A:p.G14791D,TTN:NM_001267550:exon262:c.G49295A:p.G16432D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547225882;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.935;MutationAssessor_score_rankscore=0.964;MutationAssessor_pred=H;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-5.41;PROVEAN_converted_rankscore=0.860;PROVEAN_pred=D;VEST3_score=0.541;VEST3_rankscore=0.697;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.618;MetaLR_rankscore=0.865;MetaLR_pred=D;M-CAP_score=0.037;M-CAP_rankscore=0.574;M-CAP_pred=D;REVEL_score=0.642;REVEL_rankscore=0.866;MutPred_score=0.9;MutPred_rankscore=0.978;CADD_raw=3.307;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=0.881;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.871;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.091;Eigen-PC-raw=1.026;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.659;SiPhy_29way_logOdds_rankscore=0.996;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.888834;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179479118 rs200669885 A AT 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=21974;EAS_AF=0.1002;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=?|TTTTTTTT|TTTTTTTTT|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200669885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0361;ExAC_nontcga_EAS=0.1058;ExAC_nontcga_FIN=0.0523;ExAC_nontcga_NFE=0.0277;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0304;AF=0.0258;AF_popmax=0.0899;AF_male=0.0261;AF_female=0.0255;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0238;AF_eas=0.0899;AF_nfe=0.0251;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0914;non_neuro_AF_popmax=0.0899;non_cancer_AF_popmax=.;controls_AF_popmax=0.0780;Kaviar_AF=0.0009444;Kaviar_AC=146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179479245 rs72677244 C T 100 PASS AC=7;AF=0.072484;AN=214;NS=2504;DP=18504;EAS_AF=0.1567;AMR_AF=0.0231;AFR_AF=0.0847;EUR_AF=0.0209;SAS_AF=0.0573;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon89:c.G21801A:p.E7267E,TTN:NM_133432:exon90:c.G22176A:p.E7392E,TTN:NM_133437:exon90:c.G22377A:p.E7459E,TTN:NM_133378:exon210:c.G41292A:p.E13764E,TTN:NM_001256850:exon211:c.G44073A:p.E14691E,TTN:NM_001267550:exon261:c.G48996A:p.E16332E;1000g2015aug_all=0.072484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677244;CLNALLELEID=56191;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0356;ExAC_nontcga_AFR=0.0724;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0.1268;ExAC_nontcga_FIN=0.0388;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0378;ExAC_nontcga_SAS=0.0602;AF=0.0377;AF_popmax=0.1268;AF_male=0.0394;AF_female=0.0355;AF_raw=0.0378;AF_afr=0.0719;AF_sas=.;AF_amr=0.0165;AF_eas=0.1268;AF_nfe=0.0113;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0322;non_topmed_AF_popmax=0.1279;non_neuro_AF_popmax=0.1268;non_cancer_AF_popmax=.;controls_AF_popmax=0.1091;Kaviar_AF=0.0318883;Kaviar_AC=4930;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166193;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179479741 rs16866416 G A 100 PASS AC=4;AF=0.0938498;AN=214;NS=2504;DP=19519;EAS_AF=0.0228;AMR_AF=0.1513;AFR_AF=0.0998;EUR_AF=0.0328;SAS_AF=0.181;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0209;ExAC_nontcga_ALL=0.0850;ExAC_nontcga_AFR=0.0950;ExAC_nontcga_AMR=0.2304;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0657;ExAC_nontcga_NFE=0.0314;ExAC_nontcga_OTH=0.0776;ExAC_nontcga_SAS=0.1770;AF=0.0491;AF_popmax=0.1647;AF_male=0.0495;AF_female=0.0486;AF_raw=0.0493;AF_afr=0.0880;AF_sas=.;AF_amr=0.1647;AF_eas=0.0278;AF_nfe=0.0227;AF_fin=0.0530;AF_asj=0.0310;AF_oth=0.0441;non_topmed_AF_popmax=0.1700;non_neuro_AF_popmax=0.1673;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.0536604;Kaviar_AC=8296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482089 rs72677237 C T 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=19260;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677237;CLNALLELEID=56180;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.44;MutationAssessor_score_rankscore=0.710;MutationAssessor_pred=M;FATHMM_score=0.48;FATHMM_converted_rankscore=0.560;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_converted_rankscore=0.674;PROVEAN_pred=D;VEST3_score=0.313;VEST3_rankscore=0.501;MetaSVM_score=-0.422;MetaSVM_rankscore=0.713;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_rankscore=0.664;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.000;CADD_raw_rankscore=0.538;CADD_phred=23.6;DANN_score=0.955;DANN_rankscore=0.266;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.849;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.893;Eigen-PC-raw=0.889;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.351;SiPhy_29way_logOdds_rankscore=0.988;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0157;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0143;AF=0.0042;AF_popmax=0.0071;AF_male=0.0036;AF_female=0.0050;AF_raw=0.0042;AF_afr=0.0007;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0009;AF_asj=0.0276;AF_oth=0.0055;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.383064;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179482280 rs571241788 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18902;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571241788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.043e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.665e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482309 rs3835071 CAATT C 100 PASS AC=7;AF=0.081869;AN=214;NS=2504;DP=20657;EAS_AF=0.1548;AMR_AF=0.0216;AFR_AF=0.1225;EUR_AF=0.0209;SAS_AF=0.0573;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0501;AF_popmax=0.1260;AF_male=0.0529;AF_female=0.0465;AF_raw=0.0503;AF_afr=0.1155;AF_sas=.;AF_amr=0.0165;AF_eas=0.1260;AF_nfe=0.0116;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0368;non_topmed_AF_popmax=0.1272;non_neuro_AF_popmax=0.1260;non_cancer_AF_popmax=.;controls_AF_popmax=0.1071;Kaviar_AF=0.0056862;Kaviar_AC=148;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179482533 rs146181477 G T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482852 rs150892352 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=24949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150892352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150892352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482937 rs72677232 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=23190;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon80:c.G20053A:p.V6685I,TTN:NM_133432:exon81:c.G20428A:p.V6810I,TTN:NM_133437:exon81:c.G20629A:p.V6877I,TTN:NM_133378:exon201:c.G39544A:p.V13182I,TTN:NM_001256850:exon202:c.G42325A:p.V14109I,TTN:NM_001267550:exon252:c.G47248A:p.V15750I;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677232;CLNALLELEID=56173;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.069;SIFT_converted_rankscore=0.355;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.978;Polyphen2_HVAR_rankscore=0.725;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.705;MutationAssessor_score_rankscore=0.444;MutationAssessor_pred=L;FATHMM_score=0.53;FATHMM_converted_rankscore=0.551;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_converted_rankscore=0.219;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.166;MetaSVM_score=-0.609;MetaSVM_rankscore=0.645;MetaSVM_pred=T;MetaLR_score=0.221;MetaLR_rankscore=0.584;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.321;M-CAP_pred=T;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.837;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.855;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.769;Eigen-PC-raw=0.793;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.792;phyloP100way_vertebrate_rankscore=0.843;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.982;SiPhy_29way_logOdds_rankscore=0.973;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=8.964e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0017;AF_popmax=0.0026;AF_male=0.0016;AF_female=0.0018;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0017;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0022;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0018046;Kaviar_AC=279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.210362;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482994 rs72677231 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +2 179483040 rs553017488 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20280;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon80:c.G19950A:p.E6650E,TTN:NM_133432:exon81:c.G20325A:p.E6775E,TTN:NM_133437:exon81:c.G20526A:p.E6842E,TTN:NM_133378:exon201:c.G39441A:p.E13147E,TTN:NM_001256850:exon202:c.G42222A:p.E14074E,TTN:NM_001267550:exon252:c.G47145A:p.E15715E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553017488;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.505e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.198089;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179484892 rs72677228 T A 100 PASS AC=5;AF=0.0363419;AN=214;NS=2504;DP=19679;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0258;AF_popmax=0.0897;AF_male=0.0260;AF_female=0.0256;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0912;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0053428;Kaviar_AC=826;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0258;AF_popmax=0.0897;AF_male=0.0260;AF_female=0.0256;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0912;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0053428;Kaviar_AC=826;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179485521 rs540340364 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18629;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.T18621A:p.D6207E,TTN:NM_133432:exon76:c.T18996A:p.D6332E,TTN:NM_133437:exon76:c.T19197A:p.D6399E,TTN:NM_133378:exon196:c.T38112A:p.D12704E,TTN:NM_001256850:exon197:c.T40893A:p.D13631E,TTN:NM_001267550:exon247:c.T45816A:p.D15272E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540340364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.342;SIFT_converted_rankscore=0.213;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.899;MutationTaster_converted_rankscore=0.361;MutationTaster_pred=D;MutationAssessor_score=-0.485;MutationAssessor_score_rankscore=0.027;MutationAssessor_pred=N;FATHMM_score=1.16;FATHMM_converted_rankscore=0.381;FATHMM_pred=T;PROVEAN_score=-2.18;PROVEAN_converted_rankscore=0.491;PROVEAN_pred=N;VEST3_score=0.039;VEST3_rankscore=0.029;MetaSVM_score=-1.077;MetaSVM_rankscore=0.079;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.201;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.378;M-CAP_pred=T;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=0.588;MutPred_rankscore=0.717;CADD_raw=-1.228;CADD_raw_rankscore=0.024;CADD_phred=0.006;DANN_score=0.415;DANN_rankscore=0.030;fathmm-MKL_coding_score=0.593;fathmm-MKL_coding_rankscore=0.306;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.239;Eigen-PC-raw=-1.086;GenoCanyon_score=0.742;GenoCanyon_score_rankscore=0.232;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=0.66;GERP++_RS_rankscore=0.170;phyloP100way_vertebrate=1.023;phyloP100way_vertebrate_rankscore=0.295;phyloP20way_mammalian=-0.736;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=5.948;SiPhy_29way_logOdds_rankscore=0.183;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.494e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.639538;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179485599 rs2303829 A G 100 PASS AC=5;AF=0.0363419;AN=214;NS=2504;DP=18086;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.T18543C:p.A6181A,TTN:NM_133432:exon76:c.T18918C:p.A6306A,TTN:NM_133437:exon76:c.T19119C:p.A6373A,TTN:NM_133378:exon196:c.T38034C:p.A12678A,TTN:NM_001256850:exon197:c.T40815C:p.A13605A,TTN:NM_001267550:exon247:c.T45738C:p.A15246A;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303829;CLNALLELEID=56158;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0224;ExAC_nontcga_ALL=0.0343;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0360;ExAC_nontcga_EAS=0.1057;ExAC_nontcga_FIN=0.0527;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0301;AF=0.0260;AF_popmax=0.0922;AF_male=0.0261;AF_female=0.0258;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0922;AF_nfe=0.0250;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0924;non_neuro_AF_popmax=0.0922;non_cancer_AF_popmax=.;controls_AF_popmax=0.0797;Kaviar_AF=0.0312739;Kaviar_AC=4835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705858;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179485707 rs534018757 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19375;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.C18435T:p.I6145I,TTN:NM_133432:exon76:c.C18810T:p.I6270I,TTN:NM_133437:exon76:c.C19011T:p.I6337I,TTN:NM_133378:exon196:c.C37926T:p.I12642I,TTN:NM_001256850:exon197:c.C40707T:p.I13569I,TTN:NM_001267550:exon247:c.C45630T:p.I15210I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534018757;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.911e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669136;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179486037 rs72677225 C A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20213;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon74:c.G18213T:p.K6071N,TTN:NM_133432:exon75:c.G18588T:p.K6196N,TTN:NM_133437:exon75:c.G18789T:p.K6263N,TTN:NM_133378:exon195:c.G37704T:p.K12568N,TTN:NM_001256850:exon196:c.G40485T:p.K13495N,TTN:NM_001267550:exon246:c.G45408T:p.K15136N;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677225;CLNALLELEID=56153;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.768;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-3.04;PROVEAN_converted_rankscore=0.651;PROVEAN_pred=D;VEST3_score=0.178;VEST3_rankscore=0.234;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_rankscore=0.392;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.374;M-CAP_pred=T;REVEL_score=0.180;REVEL_rankscore=0.456;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.020;CADD_raw_rankscore=0.423;CADD_phred=22.3;DANN_score=0.973;DANN_rankscore=0.327;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.605;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.395;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.334;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=1.283;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.006;SiPhy_29way_logOdds_rankscore=0.467;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0066;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0020;AF=0.0046;AF_popmax=0.0070;AF_male=0.0046;AF_female=0.0046;AF_raw=0.0046;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0070;AF_fin=0.0060;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0067;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0048253;Kaviar_AC=746;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.183556;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179486376 rs144668626 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=19502;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0143;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon73:c.G17980A:p.A5994T,TTN:NM_133432:exon74:c.G18355A:p.A6119T,TTN:NM_133437:exon74:c.G18556A:p.A6186T,TTN:NM_133378:exon194:c.G37471A:p.A12491T,TTN:NM_001256850:exon195:c.G40252A:p.A13418T,TTN:NM_001267550:exon245:c.G45175A:p.A15059T;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144668626;CLNALLELEID=56147;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.617;PROVEAN_pred=D;VEST3_score=0.324;VEST3_rankscore=0.519;MetaSVM_score=-0.074;MetaSVM_rankscore=0.807;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_rankscore=0.811;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.366;REVEL_rankscore=0.689;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.195;CADD_raw_rankscore=0.562;CADD_phred=23.9;DANN_score=0.966;DANN_rankscore=0.297;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.885;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.897;Eigen-PC-raw=0.903;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0157;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.755334;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179486478 rs72677222 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21617;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677222;CLNALLELEID=56145;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.5138;dbscSNV_RF_SCORE=0.574;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0073;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0124;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0030;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0074;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0078136;Kaviar_AC=1208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179487314 rs545944925 C CT 100 PASS AC=5;AF=0.0391374;AN=214;NS=2504;DP=17969;EAS_AF=0.0982;AMR_AF=0.0303;AFR_AF=0.0061;EUR_AF=0.0288;SAS_AF=0.0399;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200732906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0262;AF_popmax=0.0905;AF_male=0.0263;AF_female=0.0261;AF_raw=0.0262;AF_afr=0.0049;AF_sas=.;AF_amr=0.0257;AF_eas=0.0905;AF_nfe=0.0251;AF_fin=0.0569;AF_asj=0.0396;AF_oth=0.0290;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0782;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179495795 rs578020185 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179497025 rs16866423 A G 100 PASS AC=2;AF=0.0395367;AN=214;NS=2504;DP=16883;EAS_AF=0.1448;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0399;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.T16401C:p.N5467N,TTN:NM_133432:exon65:c.T16776C:p.N5592N,TTN:NM_133437:exon65:c.T16977C:p.N5659N,TTN:NM_133378:exon185:c.T35892C:p.N11964N,TTN:NM_001256850:exon186:c.T38673C:p.N12891N,TTN:NM_001267550:exon236:c.T43596C:p.N14532N;1000g2015aug_all=0.0395367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866423;CLNALLELEID=56135;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0237;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0.1387;ExAC_nontcga_FIN=0.0260;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0248;ExAC_nontcga_SAS=0.0454;AF=0.0119;AF_popmax=0.1229;AF_male=0.0122;AF_female=0.0117;AF_raw=0.0120;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0.1229;AF_nfe=0.0039;AF_fin=0.0250;AF_asj=0.0172;AF_oth=0.0166;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1229;non_cancer_AF_popmax=.;controls_AF_popmax=0.1018;Kaviar_AF=0.0166169;Kaviar_AC=2569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.940713;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179497133 rs56034831 C T 100 PASS AC=3;AF=0.00698882;AN=214;NS=2504;DP=19203;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.G16293A:p.R5431R,TTN:NM_133432:exon65:c.G16668A:p.R5556R,TTN:NM_133437:exon65:c.G16869A:p.R5623R,TTN:NM_133378:exon185:c.G35784A:p.R11928R,TTN:NM_001256850:exon186:c.G38565A:p.R12855R,TTN:NM_001267550:exon236:c.G43488A:p.R14496R;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56034831;CLNALLELEID=56133;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0290;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0072;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0370;ExAC_nontcga_NFE=0.0345;ExAC_nontcga_OTH=0.0296;ExAC_nontcga_SAS=7.822e-05;AF=0.0278;AF_popmax=0.0427;AF_male=0.0251;AF_female=0.0311;AF_raw=0.0278;AF_afr=0.0060;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0427;AF_fin=0.0318;AF_asj=0.0345;AF_oth=0.0303;non_topmed_AF_popmax=0.0472;non_neuro_AF_popmax=0.0436;non_cancer_AF_popmax=.;controls_AF_popmax=0.0620;Kaviar_AF=0.0189713;Kaviar_AC=2933;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156356;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179498022 rs369959066 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21626;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.C15783T:p.Y5261Y,TTN:NM_133432:exon62:c.C16158T:p.Y5386Y,TTN:NM_133437:exon62:c.C16359T:p.Y5453Y,TTN:NM_133378:exon182:c.C35274T:p.Y11758Y,TTN:NM_001256850:exon183:c.C38055T:p.Y12685Y,TTN:NM_001267550:exon233:c.C42978T:p.Y14326Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369959066;CLNALLELEID=173166;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0064;AF=3.189e-05;AF_popmax=6.487e-05;AF_male=0;AF_female=7.189e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.742230;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179498042 rs6723526 T C 100 PASS AC=25;AF=0.0509185;AN=214;NS=2504;DP=21983;EAS_AF=0.005;AMR_AF=0.062;AFR_AF=0.0061;EUR_AF=0.1004;SAS_AF=0.1002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.A15763G:p.K5255E,TTN:NM_133432:exon62:c.A16138G:p.K5380E,TTN:NM_133437:exon62:c.A16339G:p.K5447E,TTN:NM_133378:exon182:c.A35254G:p.K11752E,TTN:NM_001256850:exon183:c.A38035G:p.K12679E,TTN:NM_001267550:exon233:c.A42958G:p.K14320E;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6723526;CLNALLELEID=56128;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.089;SIFT_converted_rankscore=0.443;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.749;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.82;MutationAssessor_score_rankscore=0.479;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_converted_rankscore=0.603;PROVEAN_pred=D;VEST3_score=0.29;VEST3_rankscore=0.490;MetaSVM_score=-0.945;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.046;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.255;REVEL_rankscore=0.570;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.465;CADD_raw_rankscore=0.357;CADD_phred=19.24;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.790;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.691;Eigen-PC-raw=0.731;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=7.969;phyloP100way_vertebrate_rankscore=0.875;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000163492.9;GTEx_V6p_tissue=Pancreas;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1098;ExAC_nontcga_ALL=0.0820;ExAC_nontcga_AFR=0.0168;ExAC_nontcga_AMR=0.0404;ExAC_nontcga_EAS=0.0075;ExAC_nontcga_FIN=0.0955;ExAC_nontcga_NFE=0.1042;ExAC_nontcga_OTH=0.0768;ExAC_nontcga_SAS=0.1007;AF=0.0756;AF_popmax=0.1113;AF_male=0.0739;AF_female=0.0776;AF_raw=0.0754;AF_afr=0.0170;AF_sas=.;AF_amr=0.0366;AF_eas=0.0046;AF_nfe=0.1113;AF_fin=0.0998;AF_asj=0.0586;AF_oth=0.0948;non_topmed_AF_popmax=0.1142;non_neuro_AF_popmax=0.1095;non_cancer_AF_popmax=.;controls_AF_popmax=0.1150;Kaviar_AF=0.082748;Kaviar_AC=12793;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.774815;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179498303 rs16866425 T C 100 PASS AC=4;AF=0.109425;AN=214;NS=2504;DP=19292;EAS_AF=0.0228;AMR_AF=0.1556;AFR_AF=0.1566;EUR_AF=0.0328;SAS_AF=0.181;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.A15588G:p.K5196K,TTN:NM_133432:exon61:c.A15963G:p.K5321K,TTN:NM_133437:exon61:c.A16164G:p.K5388K,TTN:NM_133378:exon181:c.A35079G:p.K11693K,TTN:NM_001256850:exon182:c.A37860G:p.K12620K,TTN:NM_001267550:exon232:c.A42783G:p.K14261K;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866425;CLNALLELEID=56124;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0211;ExAC_nontcga_ALL=0.0764;ExAC_nontcga_AFR=0.1383;ExAC_nontcga_AMR=0.1971;ExAC_nontcga_EAS=0.0240;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0249;ExAC_nontcga_OTH=0.0787;ExAC_nontcga_SAS=0.1636;AF=0.0630;AF_popmax=0.1686;AF_male=0.0637;AF_female=0.0621;AF_raw=0.0633;AF_afr=0.1360;AF_sas=.;AF_amr=0.1686;AF_eas=0.0288;AF_nfe=0.0233;AF_fin=0.0538;AF_asj=0.0276;AF_oth=0.0470;non_topmed_AF_popmax=0.1741;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0678969;Kaviar_AC=10497;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.865320;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179499038 rs7590037 A G 100 PASS AC=4;AF=0.109625;AN=214;NS=2504;DP=19539;EAS_AF=0.0238;AMR_AF=0.1556;AFR_AF=0.1573;EUR_AF=0.0328;SAS_AF=0.18;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7590037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0632;AF_popmax=0.1686;AF_male=0.0640;AF_female=0.0623;AF_raw=0.0633;AF_afr=0.1371;AF_sas=.;AF_amr=0.1686;AF_eas=0.0281;AF_nfe=0.0232;AF_fin=0.0538;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1741;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0115716;Kaviar_AC=1789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179499530 rs2288563 T C 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17258;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon57:c.A14876G:p.H4959R,TTN:NM_133432:exon58:c.A15251G:p.H5084R,TTN:NM_133437:exon58:c.A15452G:p.H5151R,TTN:NM_133378:exon178:c.A34367G:p.H11456R,TTN:NM_001256850:exon179:c.A37148G:p.H12383R,TTN:NM_001267550:exon229:c.A42071G:p.H14024R;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288563;CLNALLELEID=56117;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.534;SIFT_converted_rankscore=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.22;Polyphen2_HDIV_rankscore=0.286;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_rankscore=0.223;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_score_rankscore=0.236;MutationAssessor_pred=L;FATHMM_score=1.39;FATHMM_converted_rankscore=0.338;FATHMM_pred=T;PROVEAN_score=-3.72;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.254;VEST3_rankscore=0.394;MetaSVM_score=-1.143;MetaSVM_rankscore=0.012;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.016;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.128;REVEL_rankscore=0.356;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.512;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.940;DANN_rankscore=0.235;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.036;Eigen-PC-raw=0.210;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=5.867;phyloP100way_vertebrate_rankscore=0.691;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.023;SiPhy_29way_logOdds_rankscore=0.580;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.1065;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0069;AF=0.0249;AF_popmax=0.0905;AF_male=0.0252;AF_female=0.0246;AF_raw=0.0249;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0905;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0789;Kaviar_AF=0.0279751;Kaviar_AC=4325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.890441;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500629 rs558577294 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20725;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558577294;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500777 rs201257644 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17410;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon54:c.G14326A:p.D4776N,TTN:NM_133432:exon55:c.G14701A:p.D4901N,TTN:NM_133437:exon55:c.G14902A:p.D4968N,TTN:NM_133378:exon175:c.G33817A:p.D11273N,TTN:NM_001256850:exon176:c.G36598A:p.D12200N,TTN:NM_001267550:exon226:c.G41521A:p.D13841N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201257644;CLNALLELEID=189619;CLNDN=Muscular_Diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.108;SIFT_converted_rankscore=0.294;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_rankscore=0.378;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.306;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=-0.09;MutationAssessor_score_rankscore=0.047;MutationAssessor_pred=N;FATHMM_score=3.73;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=-3.32;PROVEAN_converted_rankscore=0.660;PROVEAN_pred=D;VEST3_score=0.059;VEST3_rankscore=0.062;MetaSVM_score=-0.926;MetaSVM_rankscore=0.448;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=0.031;M-CAP_rankscore=0.536;M-CAP_pred=D;REVEL_score=0.144;REVEL_rankscore=0.389;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.678;CADD_raw_rankscore=0.383;CADD_phred=20.7;DANN_score=0.776;DANN_rankscore=0.116;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.678;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.035;Eigen-PC-raw=0.106;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=4.835;phyloP100way_vertebrate_rankscore=0.622;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.208;phastCons20way_mammalian_rankscore=0.219;SiPhy_29way_logOdds=20.055;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=7.185e-05;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.861749;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500790 rs55847232 A G 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=16880;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon54:c.T14313C:p.A4771A,TTN:NM_133432:exon55:c.T14688C:p.A4896A,TTN:NM_133437:exon55:c.T14889C:p.A4963A,TTN:NM_133378:exon175:c.T33804C:p.A11268A,TTN:NM_001256850:exon176:c.T36585C:p.A12195A,TTN:NM_001267550:exon226:c.T41508C:p.A13836A;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55847232;CLNALLELEID=56111;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0220;ExAC_nontcga_ALL=0.0344;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.1061;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0321;ExAC_nontcga_SAS=0.0304;AF=0.0258;AF_popmax=0.0897;AF_male=0.0259;AF_female=0.0257;AF_raw=0.0259;AF_afr=0.0050;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0250;AF_fin=0.0519;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0899;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0792;Kaviar_AF=0.031455;Kaviar_AC=4863;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.936296;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179501351 rs72650077 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179505896 rs2243452 A G 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=18276;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2243452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0257;AF_popmax=0.0878;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0050;AF_sas=.;AF_amr=0.0236;AF_eas=0.0878;AF_nfe=0.0248;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0892;non_neuro_AF_popmax=0.0878;non_cancer_AF_popmax=.;controls_AF_popmax=0.0757;Kaviar_AF=0.004573;Kaviar_AC=707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629524|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.322958;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179506911 rs141920886 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=15213;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141920886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179509245 rs116209755 T C 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=17668;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116209755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179510833 rs185968622 A T 100 PASS AC=4;AF=0.10603;AN=214;NS=2504;DP=3022;EAS_AF=0.0238;AMR_AF=0.1628;AFR_AF=0.1392;EUR_AF=0.0328;SAS_AF=0.181;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185968622;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0180;AF_popmax=0.0405;AF_male=0.0184;AF_female=0.0174;AF_raw=0.0149;AF_afr=0.0351;AF_sas=.;AF_amr=0.0405;AF_eas=0.004;AF_nfe=0.0048;AF_fin=0;AF_asj=0.0172;AF_oth=0.0260;non_topmed_AF_popmax=0.0469;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0331;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179513923 rs7606485 A T 100 PASS AC=4;AF=0.0934505;AN=214;NS=2504;DP=17144;EAS_AF=0.0228;AMR_AF=0.1513;AFR_AF=0.0983;EUR_AF=0.0328;SAS_AF=0.181;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7606485;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0493;AF_popmax=0.1663;AF_male=0.0498;AF_female=0.0487;AF_raw=0.0494;AF_afr=0.0880;AF_sas=.;AF_amr=0.1663;AF_eas=0.0284;AF_nfe=0.0229;AF_fin=0.0539;AF_asj=0.0276;AF_oth=0.0451;non_topmed_AF_popmax=0.1716;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1626;Kaviar_AF=0.0101292;Kaviar_AC=1566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179513966 rs181316033 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15556;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181316033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.078e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.197e-05;AF_popmax=6.507e-05;AF_male=5.746e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.507e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.063e-05;non_neuro_AF_popmax=7.376e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514208 rs116254094 G A 100 PASS AC=5;AF=0.0327476;AN=214;NS=2504;DP=16365;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0327476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116254094;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0260;AF_popmax=0.0708;AF_male=0.0278;AF_female=0.0239;AF_raw=0.0261;AF_afr=0.0708;AF_sas=.;AF_amr=0.0153;AF_eas=0.0071;AF_nfe=0.0073;AF_fin=0.0130;AF_asj=0.0034;AF_oth=0.0165;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0676;non_cancer_AF_popmax=.;controls_AF_popmax=0.0642;Kaviar_AF=0.0025614;Kaviar_AC=396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514420 rs1366677 G A 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17351;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1366677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0246;AF_popmax=0.0874;AF_male=0.0249;AF_female=0.0244;AF_raw=0.0247;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0874;AF_nfe=0.0232;AF_fin=0.0516;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0876;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0785;Kaviar_AF=0.024781;Kaviar_AC=645;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514433 rs2562845 T C 100 PASS AC=51;AF=0.32488;AN=214;NS=2504;DP=17832;EAS_AF=0.5565;AMR_AF=0.2334;AFR_AF=0.2746;EUR_AF=0.2078;SAS_AF=0.3395;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.32488;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562845;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2406;AF_popmax=0.5499;AF_male=0.2448;AF_female=0.2353;AF_raw=0.2410;AF_afr=0.2809;AF_sas=.;AF_amr=0.2388;AF_eas=0.5499;AF_nfe=0.1999;AF_fin=0.1907;AF_asj=0.1931;AF_oth=0.2297;non_topmed_AF_popmax=0.5465;non_neuro_AF_popmax=0.5499;non_cancer_AF_popmax=.;controls_AF_popmax=0.5578;Kaviar_AF=0.0458015;Kaviar_AC=7081;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179514479 rs72650068 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18317;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0048;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0048;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001022;Kaviar_AC=158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0048;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0048;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001022;Kaviar_AC=158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514508 rs2742356 A C 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17893;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0296;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0352;ExAC_nontcga_EAS=0.1048;ExAC_nontcga_FIN=0.0527;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0305;ExAC_nontcga_SAS=0.0071;AF=0.0248;AF_popmax=0.0886;AF_male=0.0250;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0886;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0889;non_neuro_AF_popmax=0.0886;non_cancer_AF_popmax=.;controls_AF_popmax=0.0784;Kaviar_AF=0.027477;Kaviar_AC=4248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514941 rs139512154 TTTTCCTCTTCAGGAGCAA T 100 PASS AC=5;AF=0.033147;AN=214;NS=2504;DP=20291;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0139;SAS_AF=0.0174;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_133378:exon164:c.32447_32464del:p.10816_10822del,TTN:NM_001256850:exon165:c.35228_35245del:p.11743_11749del,TTN:NM_001267550:exon210:c.39749_39766del:p.13250_13256del;1000g2015aug_all=0.033147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139512154;CLNALLELEID=56097;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0186;ExAC_nontcga_AFR=0.0674;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0.0068;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0182;AF=0.0263;AF_popmax=0.0702;AF_male=0.0278;AF_female=0.0244;AF_raw=0.0263;AF_afr=0.0702;AF_sas=.;AF_amr=0.0165;AF_eas=0.0071;AF_nfe=0.0078;AF_fin=0.0132;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0704;non_neuro_AF_popmax=0.0663;non_cancer_AF_popmax=.;controls_AF_popmax=0.0627;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.840239,97.958201;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515437 rs2742355 T G 100 PASS AC=3;AF=0.0307508;AN=214;NS=2504;DP=17927;EAS_AF=0.1002;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742355;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0377;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0574;ExAC_nontcga_EAS=0.1482;ExAC_nontcga_FIN=0.0690;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.0397;ExAC_nontcga_SAS=0.0084;AF=0.0247;AF_popmax=0.0868;AF_male=0.0249;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0868;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0870;non_neuro_AF_popmax=0.0868;non_cancer_AF_popmax=.;controls_AF_popmax=0.0774;Kaviar_AF=0.0230721;Kaviar_AC=3567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515472 rs72650067 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=17936;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650067;CLNALLELEID=56095;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0097;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0018;AF=0.0065;AF_popmax=0.0095;AF_male=0.0052;AF_female=0.0081;AF_raw=0.0065;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0.0013;AF_nfe=0.0095;AF_fin=0.0069;AF_asj=0.0345;AF_oth=0.0055;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.757213;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515475 rs543584748 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543584748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9964;dbscSNV_RF_SCORE=0.846;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.282e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.423e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.757213;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515483 rs72650066 G C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179516580 rs72650063 G C 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=15537;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.0143;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0231;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0126;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0439;ExAC_nontcga_NFE=0.0308;ExAC_nontcga_OTH=0.0277;ExAC_nontcga_SAS=0.0366;AF=0.0182;AF_popmax=0.0215;AF_male=0.0168;AF_female=0.0199;AF_raw=0.0182;AF_afr=0.0032;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0312;non_topmed_AF_popmax=0.0220;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0199092;Kaviar_AC=3078;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179516690 rs569579388 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16948;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon159:c.C31998T:p.F10666F,TTN:NM_001256850:exon160:c.C34779T:p.F11593F,TTN:NM_001267550:exon205:c.C39300T:p.F13100F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569579388;CLNALLELEID=173179;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.332e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.547e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.880171;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517019 rs12474306 A T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=16837;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon157:c.T31881A:p.P10627P,TTN:NM_001256850:exon158:c.T34662A:p.P11554P,TTN:NM_001267550:exon203:c.T39183A:p.P13061P;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12474306;CLNALLELEID=56087;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0080;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0069;AF_popmax=0.0106;AF_male=0.0065;AF_female=0.0074;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0055;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0081694;Kaviar_AC=1263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299074;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517105 rs544606300 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544606300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544606300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517605 rs150223722 G A 100 PASS AC=1;AF=0.00638978;AN=214;NS=2504;DP=18062;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0245;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.C38929T:p.P12977S;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150223722;CLNALLELEID=238500;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.102;VEST3_rankscore=0.106;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.597;CADD_raw_rankscore=0.253;CADD_phred=13.83;DANN_score=0.567;DANN_rankscore=0.055;fathmm-MKL_coding_score=0.182;fathmm-MKL_coding_rankscore=0.200;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.872;Eigen-PC-raw=-0.027;GenoCanyon_score=0.029;GenoCanyon_score_rankscore=0.139;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.93;GERP++_RS_rankscore=0.445;phyloP100way_vertebrate=0.120;phyloP100way_vertebrate_rankscore=0.154;phyloP20way_mammalian=0.933;phyloP20way_mammalian_rankscore=0.449;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=9.634;SiPhy_29way_logOdds_rankscore=0.388;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0059;ExAC_nontcga_SAS=0.0224;AF=0.0038;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0042;AF_raw=0.0038;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0020;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0069;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.465734;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517632 rs192528655 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17949;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.C38902T:p.P12968S;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192528655;CLNALLELEID=238501;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.155;VEST3_rankscore=0.185;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=0.009;M-CAP_rankscore=0.236;M-CAP_pred=T;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.228;CADD_raw_rankscore=0.213;CADD_phred=11.90;DANN_score=0.508;DANN_rankscore=0.044;fathmm-MKL_coding_score=0.199;fathmm-MKL_coding_rankscore=0.206;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.776;Eigen-PC-raw=-0.040;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.76;GERP++_RS_rankscore=0.422;phyloP100way_vertebrate=0.930;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=-0.309;phyloP20way_mammalian_rankscore=0.079;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=5.413;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0031;AF=0.0007;AF_popmax=0.0007;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179517654 rs2742354 T C 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=18162;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.A38880G:p.P12960P;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742354;CLNALLELEID=391958;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0348;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.1039;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0324;ExAC_nontcga_SAS=0.0300;AF=0.0258;AF_popmax=0.0875;AF_male=0.0259;AF_female=0.0257;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0875;AF_nfe=0.0250;AF_fin=0.0528;AF_asj=0.0379;AF_oth=0.0285;non_topmed_AF_popmax=0.0878;non_neuro_AF_popmax=0.0875;non_cancer_AF_popmax=.;controls_AF_popmax=0.0776;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.078236;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517725 rs138858660 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18464;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138858660;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.788e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138858660;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.788e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518003 rs2562847 A G 100 PASS AC=10;AF=0.117013;AN=214;NS=2504;DP=17498;EAS_AF=0.125;AMR_AF=0.1816;AFR_AF=0.0416;EUR_AF=0.0636;SAS_AF=0.2198;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon198:c.T38753C:p.L12918S;1000g2015aug_all=0.117013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562847;CLNALLELEID=517427;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.768;CADD_raw_rankscore=0.042;CADD_phred=0.050;DANN_score=0.531;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.080;fathmm-MKL_coding_rankscore=0.138;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=-0.256;Eigen-PC-raw=-0.213;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.115;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.6;GERP++_RS_rankscore=0.058;phyloP100way_vertebrate=-1.210;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.039;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=7.781;SiPhy_29way_logOdds_rankscore=0.281;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1046;ExAC_nontcga_AFR=0.0452;ExAC_nontcga_AMR=0.2285;ExAC_nontcga_EAS=0.1276;ExAC_nontcga_FIN=0.1111;ExAC_nontcga_NFE=0.0539;ExAC_nontcga_OTH=0.1082;ExAC_nontcga_SAS=0.1964;AF=0.0611;AF_popmax=0.1778;AF_male=0.0607;AF_female=0.0617;AF_raw=0.0616;AF_afr=0.0444;AF_sas=.;AF_amr=0.1778;AF_eas=0.1156;AF_nfe=0.0478;AF_fin=0.1051;AF_asj=0.0655;AF_oth=0.0738;non_topmed_AF_popmax=0.1837;non_neuro_AF_popmax=0.1710;non_cancer_AF_popmax=.;controls_AF_popmax=0.1789;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518170 rs554529099 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon197:c.A38691C:p.E12897D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554529099;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.81;FATHMM_converted_rankscore=0.740;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.065;VEST3_rankscore=0.051;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=0.005;M-CAP_rankscore=0.115;M-CAP_pred=T;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.677;CADD_raw_rankscore=0.159;CADD_phred=8.673;DANN_score=0.609;DANN_rankscore=0.064;fathmm-MKL_coding_score=0.167;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.305;Eigen-PC-raw=-0.133;GenoCanyon_score=0.012;GenoCanyon_score_rankscore=0.123;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.8;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=1.426;phyloP100way_vertebrate_rankscore=0.343;phyloP20way_mammalian=0.853;phyloP20way_mammalian_rankscore=0.373;phastCons100way_vertebrate=0.360;phastCons100way_vertebrate_rankscore=0.256;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=7.821;SiPhy_29way_logOdds_rankscore=0.283;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518273 rs533718878 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19155;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533718878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.05;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0060;AF_popmax=0.0109;AF_male=0.0052;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0040;AF_asj=0;AF_oth=0.0072;non_topmed_AF_popmax=0.0142;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0006209;Kaviar_AC=96;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533718878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.05;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0060;AF_popmax=0.0109;AF_male=0.0052;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0040;AF_asj=0;AF_oth=0.0072;non_topmed_AF_popmax=0.0142;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0006209;Kaviar_AC=96;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518854 rs546356284 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=14663;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546356284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0237;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035511;Kaviar_AC=549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546356284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0237;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035511;Kaviar_AC=549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518911 rs139167585 TAGC T 100 PASS AC=42;AF=0.109425;AN=214;NS=2504;DP=15349;EAS_AF=0.004;AMR_AF=0.1311;AFR_AF=0.0893;EUR_AF=0.1968;SAS_AF=0.1401;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139167585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1525;ExAC_nontcga_AFR=0.0929;ExAC_nontcga_AMR=0.0980;ExAC_nontcga_EAS=0.0073;ExAC_nontcga_FIN=0.1777;ExAC_nontcga_NFE=0.1919;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1479;AF=0.1560;AF_popmax=0.2015;AF_male=0.1537;AF_female=0.1589;AF_raw=0.1571;AF_afr=0.0944;AF_sas=.;AF_amr=0.1107;AF_eas=0.0046;AF_nfe=0.2015;AF_fin=0.1823;AF_asj=0.1111;AF_oth=0.1800;non_topmed_AF_popmax=0.2072;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2131;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139167585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1525;ExAC_nontcga_AFR=0.0929;ExAC_nontcga_AMR=0.0980;ExAC_nontcga_EAS=0.0073;ExAC_nontcga_FIN=0.1777;ExAC_nontcga_NFE=0.1919;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1479;AF=0.1560;AF_popmax=0.2015;AF_male=0.1537;AF_female=0.1589;AF_raw=0.1571;AF_afr=0.0944;AF_sas=.;AF_amr=0.1107;AF_eas=0.0046;AF_nfe=0.2015;AF_fin=0.1823;AF_asj=0.1111;AF_oth=0.1800;non_topmed_AF_popmax=0.2072;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2131;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 +2 179519086 rs201823018 A T 100 PASS AC=1;AF=0.0413339;AN=214;NS=2504;DP=14466;EAS_AF=0.1448;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.0491;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201823018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0124;AF_popmax=0.1238;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0123;AF_afr=0.0020;AF_sas=.;AF_amr=0;AF_eas=0.1238;AF_nfe=0.0043;AF_fin=0.0282;AF_asj=0.0094;AF_oth=0.0164;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1238;non_cancer_AF_popmax=.;controls_AF_popmax=0.1024;Kaviar_AF=0.0102966;Kaviar_AC=268;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201823018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0124;AF_popmax=0.1238;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0123;AF_afr=0.0020;AF_sas=.;AF_amr=0;AF_eas=0.1238;AF_nfe=0.0043;AF_fin=0.0282;AF_asj=0.0094;AF_oth=0.0164;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1238;non_cancer_AF_popmax=.;controls_AF_popmax=0.1024;Kaviar_AF=0.0102966;Kaviar_AC=268;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179519330 rs143949452 C A 100 PASS AC=11;AF=0.103035;AN=214;NS=2504;DP=13194;EAS_AF=0.3105;AMR_AF=0.0504;AFR_AF=0.0287;EUR_AF=0.0467;SAS_AF=0.0849;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.103035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78335321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0145;AF_popmax=0.0404;AF_male=0.0158;AF_female=0.0128;AF_raw=0.0530;AF_afr=0.0159;AF_sas=.;AF_amr=0.0091;AF_eas=0.0404;AF_nfe=0.0156;AF_fin=0.0036;AF_asj=0.0219;AF_oth=0.0078;non_topmed_AF_popmax=0.0411;non_neuro_AF_popmax=0.0404;non_cancer_AF_popmax=.;controls_AF_popmax=0.0355;Kaviar_AF=0.0198248;Kaviar_AC=516;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179519351 rs148207286 T C 100 PASS AC=11;AF=0.102436;AN=214;NS=2504;DP=13525;EAS_AF=0.3095;AMR_AF=0.0476;AFR_AF=0.0287;EUR_AF=0.0457;SAS_AF=0.0859;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148207286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0123;AF_popmax=0.0269;AF_male=0.0136;AF_female=0.0108;AF_raw=0.0534;AF_afr=0.0150;AF_sas=.;AF_amr=0.0058;AF_eas=0.0269;AF_nfe=0.0135;AF_fin=0.0027;AF_asj=0.0092;AF_oth=0.0042;non_topmed_AF_popmax=0.0274;non_neuro_AF_popmax=0.0269;non_cancer_AF_popmax=.;controls_AF_popmax=0.0240;Kaviar_AF=0.0217074;Kaviar_AC=565;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179522337 rs564445960 G A 100 PASS AC=5;AF=0.136581;AN=214;NS=2504;DP=12004;EAS_AF=0.0119;AMR_AF=0.0562;AFR_AF=0.4213;EUR_AF=0.0149;SAS_AF=0.0624;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0661;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0081;AF=0.1140;AF_popmax=0.3657;AF_male=0.1170;AF_female=0.1101;AF_raw=0.1073;AF_afr=0.3657;AF_sas=.;AF_amr=0.0395;AF_eas=0.0070;AF_nfe=0.0087;AF_fin=0.0115;AF_asj=0.0220;AF_oth=0.0315;non_topmed_AF_popmax=0.3680;non_neuro_AF_popmax=0.3478;non_cancer_AF_popmax=.;controls_AF_popmax=0.3514;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0661;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0081;AF=0.1140;AF_popmax=0.3657;AF_male=0.1170;AF_female=0.1101;AF_raw=0.1073;AF_afr=0.3657;AF_sas=.;AF_amr=0.0395;AF_eas=0.0070;AF_nfe=0.0087;AF_fin=0.0115;AF_asj=0.0220;AF_oth=0.0315;non_topmed_AF_popmax=0.3680;non_neuro_AF_popmax=0.3478;non_cancer_AF_popmax=.;controls_AF_popmax=0.3514;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179522377 rs549980392 T C 100 PASS 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AC=51;AF=0.0680911;AN=214;NS=2504;DP=14884;EAS_AF=0.001;AMR_AF=0.1311;AFR_AF=0.0136;EUR_AF=0.1799;SAS_AF=0.0511;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1256;AF_popmax=0.1885;AF_male=0.1282;AF_female=0.1224;AF_raw=0.1265;AF_afr=0.0380;AF_sas=.;AF_amr=0.1339;AF_eas=0.0007;AF_nfe=0.1885;AF_fin=0.1142;AF_asj=0.3218;AF_oth=0.1469;non_topmed_AF_popmax=0.1725;non_neuro_AF_popmax=0.1904;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0388428;Kaviar_AC=1011;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1256;AF_popmax=0.1885;AF_male=0.1282;AF_female=0.1224;AF_raw=0.1265;AF_afr=0.0380;AF_sas=.;AF_amr=0.1339;AF_eas=0.0007;AF_nfe=0.1885;AF_fin=0.1142;AF_asj=0.3218;AF_oth=0.1469;non_topmed_AF_popmax=0.1725;non_neuro_AF_popmax=0.1904;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0388428;Kaviar_AC=1011;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 +2 179527095 rs201474544 G A 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=12357;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0215;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.C37009T:p.P12337S;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201474544;CLNALLELEID=221129;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.568;CADD_raw_rankscore=0.148;CADD_phred=7.931;DANN_score=0.705;DANN_rankscore=0.090;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.322;Eigen-PC-raw=-0.127;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.072;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=-1.175;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=0.937;phyloP20way_mammalian_rankscore=0.529;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=4.844;SiPhy_29way_logOdds_rankscore=0.128;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0275;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0264;AF=0.0119;AF_popmax=0.0177;AF_male=0.0119;AF_female=0.012;AF_raw=0.0125;AF_afr=0.0040;AF_sas=.;AF_amr=0.0063;AF_eas=0;AF_nfe=0.0177;AF_fin=0.0113;AF_asj=0;AF_oth=0.0086;non_topmed_AF_popmax=0.0175;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0137967;Kaviar_AC=2133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179527475 rs535294541 C T 100 PASS AC=5;AF=0.0329473;AN=214;NS=2504;DP=16789;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon175:c.G36855A:p.P12285P;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535294541;CLNALLELEID=238508;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0263;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0556;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.0667;AF=0.0211;AF_popmax=0.0577;AF_male=0.0225;AF_female=0.0193;AF_raw=0.0239;AF_afr=0.0577;AF_sas=.;AF_amr=0.0076;AF_eas=0.0064;AF_nfe=0.0063;AF_fin=0.0111;AF_asj=0.0052;AF_oth=0.0061;non_topmed_AF_popmax=0.0582;non_neuro_AF_popmax=0.0542;non_cancer_AF_popmax=.;controls_AF_popmax=0.05;Kaviar_AF=0.0011578;Kaviar_AC=179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.326013;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179528068 rs142156368 C A 100 PASS 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_vertebrate_rankscore=0.074;phyloP20way_mammalian=0.005;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=7.463;SiPhy_29way_logOdds_rankscore=0.263;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0287;ExAC_nontcga_AFR=0.0220;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0.2329;ExAC_nontcga_FIN=0.0276;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0584;AF=0.0163;AF_popmax=0.1395;AF_male=0.0170;AF_female=0.0156;AF_raw=0.0164;AF_afr=0.0176;AF_sas=.;AF_amr=0.0038;AF_eas=0.1395;AF_nfe=0.0041;AF_fin=0.0249;AF_asj=0.0176;AF_oth=0.0174;non_topmed_AF_popmax=0.1413;non_neuro_AF_popmax=0.1395;non_cancer_AF_popmax=.;controls_AF_popmax=0.1202;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.654090;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179528335 rs10204913 T C 100 PASS AC=4;AF=0.0698882;AN=214;NS=2504;DP=18827;EAS_AF=0.0228;AMR_AF=0.1455;AFR_AF=0.0106;EUR_AF=0.0328;SAS_AF=0.183;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10204913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0118;ExAC_nontcga_AMR=0.1902;ExAC_nontcga_EAS=0.0236;ExAC_nontcga_FIN=0.0579;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0727;ExAC_nontcga_SAS=0.1631;AF=0.0277;AF_popmax=0.1564;AF_male=0.0270;AF_female=0.0287;AF_raw=0.0278;AF_afr=0.0121;AF_sas=.;AF_amr=0.1564;AF_eas=0.0289;AF_nfe=0.0228;AF_fin=0.0524;AF_asj=0.0276;AF_oth=0.0423;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1545;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0559566;Kaviar_AC=8651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10204913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0118;ExAC_nontcga_AMR=0.1902;ExAC_nontcga_EAS=0.0236;ExAC_nontcga_FIN=0.0579;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0727;ExAC_nontcga_SAS=0.1631;AF=0.0277;AF_popmax=0.1564;AF_male=0.0270;AF_female=0.0287;AF_raw=0.0278;AF_afr=0.0121;AF_sas=.;AF_amr=0.1564;AF_eas=0.0289;AF_nfe=0.0228;AF_fin=0.0524;AF_asj=0.0276;AF_oth=0.0423;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1545;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0559566;Kaviar_AC=8651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179528378 rs2163008 C T 100 PASS AC=14;AF=0.259185;AN=214;NS=2504;DP=18311;EAS_AF=0.1339;AMR_AF=0.2277;AFR_AF=0.503;EUR_AF=0.0755;SAS_AF=0.2699;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon171:c.G36508A:p.E12170K;1000g2015aug_all=0.259185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2163008;CLNALLELEID=189644;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.127;VEST3_rankscore=0.144;MetaSVM_score=-0.930;MetaSVM_rankscore=0.442;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.900;CADD_raw_rankscore=0.409;CADD_phred=21.9;DANN_score=0.725;DANN_rankscore=0.097;fathmm-MKL_coding_score=0.006;fathmm-MKL_coding_rankscore=0.027;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.621;Eigen-PC-raw=-0.615;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.071;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=0.198;phyloP100way_vertebrate_rankscore=0.169;phyloP20way_mammalian=-0.289;phyloP20way_mammalian_rankscore=0.083;phastCons100way_vertebrate=0.026;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.661;phastCons20way_mammalian_rankscore=0.301;SiPhy_29way_logOdds=7.980;SiPhy_29way_logOdds_rankscore=0.292;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0560;ExAC_nontcga_ALL=0.1537;ExAC_nontcga_AFR=0.4779;ExAC_nontcga_AMR=0.2529;ExAC_nontcga_EAS=0.1329;ExAC_nontcga_FIN=0.1258;ExAC_nontcga_NFE=0.0642;ExAC_nontcga_OTH=0.1334;ExAC_nontcga_SAS=0.2424;AF=0.1865;AF_popmax=0.4619;AF_male=0.1909;AF_female=0.1810;AF_raw=0.1859;AF_afr=0.4619;AF_sas=.;AF_amr=0.2145;AF_eas=0.1248;AF_nfe=0.0575;AF_fin=0.1191;AF_asj=0.0868;AF_oth=0.1134;non_topmed_AF_popmax=0.4626;non_neuro_AF_popmax=0.4555;non_cancer_AF_popmax=.;controls_AF_popmax=0.4588;Kaviar_AF=0.135956;Kaviar_AC=21019;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529273 rs2562849 A G 100 PASS AC=5;AF=0.0367412;AN=214;NS=2504;DP=18261;EAS_AF=0.1002;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0367412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562849;CLNALLELEID=392025;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.084;esp6500siv2_ea=0.0218;ExAC_nontcga_ALL=0.0350;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0364;ExAC_nontcga_EAS=0.1042;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0323;ExAC_nontcga_SAS=0.0300;AF=0.0258;AF_popmax=0.0874;AF_male=0.0259;AF_female=0.0256;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0874;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0876;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0768;Kaviar_AF=0.030834;Kaviar_AC=4767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529497 rs2742353 T G 100 PASS AC=5;AF=0.0369409;AN=214;NS=2504;DP=17557;EAS_AF=0.1012;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0353;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0368;ExAC_nontcga_EAS=0.1072;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0304;AF=0.0257;AF_popmax=0.0862;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0862;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0864;non_neuro_AF_popmax=0.0862;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0304977;Kaviar_AC=4715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0353;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0368;ExAC_nontcga_EAS=0.1072;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0304;AF=0.0257;AF_popmax=0.0862;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0862;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0864;non_neuro_AF_popmax=0.0862;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0304977;Kaviar_AC=4715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529584 rs567187864 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17981;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon166:c.T36113A:p.V12038D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567187864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.559;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.497;Polyphen2_HVAR_rankscore=0.457;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.143;VEST3_rankscore=0.248;MetaSVM_score=-1.039;MetaSVM_rankscore=0.177;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.210;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.442;M-CAP_pred=T;REVEL_score=0.068;REVEL_rankscore=0.203;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.012;CADD_raw_rankscore=0.303;CADD_phred=16.29;DANN_score=0.951;DANN_rankscore=0.257;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_rankscore=0.079;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.351;Eigen-PC-raw=-0.453;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.138;GERP++_RS_rankscore=0.140;phyloP100way_vertebrate=-0.994;phyloP100way_vertebrate_rankscore=0.038;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=5.876;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.097e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.134e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.139021;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179531693 rs2562850 A G 100 PASS AC=3;AF=0.0309505;AN=214;NS=2504;DP=18085;EAS_AF=0.1012;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0248;AF_popmax=0.0872;AF_male=0.0251;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0872;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0874;non_neuro_AF_popmax=0.0872;non_cancer_AF_popmax=.;controls_AF_popmax=0.0775;Kaviar_AF=0.0048512;Kaviar_AC=750;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179534224 rs577006868 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16088;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577006868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.564e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.628e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=6.467e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.193e-05;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577006868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.564e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.628e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=6.467e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.193e-05;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179534225 rs150597207 G A 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=16093;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150597207;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0217;AF_male=0.0169;AF_female=0.0198;AF_raw=0.0182;AF_afr=0.0031;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0314;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0032923;Kaviar_AC=509;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150597207;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0217;AF_male=0.0169;AF_female=0.0198;AF_raw=0.0182;AF_afr=0.0031;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0314;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0032923;Kaviar_AC=509;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179535068 rs191019610 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12748;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191019610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.223e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179537200 rs202014478 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15706;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon149:c.G30961A:p.V10321I,TTN:NM_001256850:exon150:c.G33742A:p.V11248I,TTN:NM_001267550:exon154:c.G34864A:p.V11622I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202014478;CLNALLELEID=56074;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.268;SIFT_converted_rankscore=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.195;MutationAssessor_score_rankscore=0.303;MutationAssessor_pred=L;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-0.28;PROVEAN_converted_rankscore=0.116;PROVEAN_pred=N;VEST3_score=0.104;VEST3_rankscore=0.143;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.164;MetaLR_rankscore=0.501;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.522;M-CAP_pred=D;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.829;CADD_raw_rankscore=0.401;CADD_phred=21.5;DANN_score=0.961;DANN_rankscore=0.282;fathmm-MKL_coding_score=0.155;fathmm-MKL_coding_rankscore=0.187;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.250;Eigen-PC-raw=-0.122;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.111;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=0.003;phyloP100way_vertebrate_rankscore=0.129;phyloP20way_mammalian=0.036;phyloP20way_mammalian_rankscore=0.152;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=9.275;SiPhy_29way_logOdds_rankscore=0.367;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0043;AF_male=0.0029;AF_female=0.0021;AF_raw=0.0026;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0034152;Kaviar_AC=528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.025657;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179538492 rs72650050 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650050;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0035;AF_popmax=0.0053;AF_male=0.0029;AF_female=0.0041;AF_raw=0.0035;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0052;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539803 rs537187311 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16709;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon145:c.C30672T:p.I10224I,TTN:NM_001256850:exon146:c.C33453T:p.I11151I,TTN:NM_001267550:exon150:c.C34575T:p.I11525I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537187311;CLNALLELEID=586677;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.084435;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539812 rs140640738 T G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16343;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140640738;CLNALLELEID=56069;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.226;SIFT_converted_rankscore=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.256;Polyphen2_HDIV_rankscore=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_rankscore=0.269;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-0.99;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_converted_rankscore=0.299;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.149;MetaSVM_score=-0.656;MetaSVM_rankscore=0.625;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_rankscore=0.659;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.114;REVEL_rankscore=0.325;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.654;CADD_raw_rankscore=0.260;CADD_phred=14.15;DANN_score=0.793;DANN_rankscore=0.122;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.240;Eigen-PC-raw=-0.184;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.084;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=0.842;phyloP100way_vertebrate_rankscore=0.271;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.955;phastCons100way_vertebrate_rankscore=0.331;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.624;SiPhy_29way_logOdds_rankscore=0.272;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539903 rs2472751 C A 100 PASS AC=54;AF=0.471246;AN=214;NS=2504;DP=15744;EAS_AF=0.5784;AMR_AF=0.4049;AFR_AF=0.5711;EUR_AF=0.2336;SAS_AF=0.5174;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2472751;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2126;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3338;AF_popmax=0.5750;AF_male=0.3399;AF_female=0.3261;AF_raw=0.3334;AF_afr=0.5368;AF_sas=.;AF_amr=0.4033;AF_eas=0.5750;AF_nfe=0.2179;AF_fin=0.2397;AF_asj=0.2241;AF_oth=0.2795;non_topmed_AF_popmax=0.5716;non_neuro_AF_popmax=0.5750;non_cancer_AF_popmax=.;controls_AF_popmax=0.5813;Kaviar_AF=0.0584663;Kaviar_AC=9039;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.250988::0.17259;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179540461 rs182428755 G T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon149:c.C34474A:p.P11492T;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182428755;CLNALLELEID=238516;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.12;FATHMM_converted_rankscore=0.611;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.111;VEST3_rankscore=0.120;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.67;DANN_score=0.697;DANN_rankscore=0.088;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.534;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.692;Eigen-PC-raw=0.097;GenoCanyon_score=0.013;GenoCanyon_score_rankscore=0.124;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.330;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=0.672;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.935;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=6.575;SiPhy_29way_logOdds_rankscore=0.216;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.1039;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0028;AF_popmax=0.0039;AF_male=0.0030;AF_female=0.0026;AF_raw=0.0028;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0006;AF_asj=0.0310;AF_oth=0.0046;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.741684;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179541899 rs2742351 C G 100 PASS AC=148;AF=0.773363;AN=214;NS=2504;DP=9055;EAS_AF=0.7649;AMR_AF=0.6571;AFR_AF=0.7791;EUR_AF=0.7445;SAS_AF=0.8865;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.773363;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.788;ExAC_nontcga_AFR=0.7742;ExAC_nontcga_AMR=0.7593;ExAC_nontcga_EAS=0.3571;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.6667;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.8774;AF=0.7644;AF_popmax=0.7869;AF_male=0.7618;AF_female=0.7676;AF_raw=0.7645;AF_afr=0.7869;AF_sas=.;AF_amr=0.6445;AF_eas=0.7379;AF_nfe=0.7498;AF_fin=0.8313;AF_asj=0.5448;AF_oth=0.7748;non_topmed_AF_popmax=0.7879;non_neuro_AF_popmax=0.7794;non_cancer_AF_popmax=.;controls_AF_popmax=0.7870;Kaviar_AF=0.111965;Kaviar_AC=17310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|0 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|0 +2 179542046 rs577130532 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7077;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577130532;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0833;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179542068 rs545894786 T C 100 PASS AC=4;AF=0.0666933;AN=214;NS=2504;DP=6095;EAS_AF=0.0228;AMR_AF=0.1326;AFR_AF=0.0113;EUR_AF=0.0328;SAS_AF=0.1748;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545894786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0028;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0029;AF_asj=0;AF_oth=0.0014;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179542674 rs72650048 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19246;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650048;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0176;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0009;AF=0.0076;AF_popmax=0.0101;AF_male=0.0076;AF_female=0.0078;AF_raw=0.0076;AF_afr=0.0013;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0161;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0104;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0074;Kaviar_AF=0.0068628;Kaviar_AC=1061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179543217 rs35112591 C T 100 PASS AC=40;AF=0.238419;AN=214;NS=2504;DP=13346;EAS_AF=0.4454;AMR_AF=0.183;AFR_AF=0.1362;EUR_AF=0.1581;SAS_AF=0.2853;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon141:c.G30102A:p.E10034E,TTN:NM_001256850:exon142:c.G32883A:p.E10961E,TTN:NM_001267550:exon144:c.G33834A:p.E11278E;1000g2015aug_all=0.238419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35112591;CLNALLELEID=56059;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1604;ExAC_nontcga_ALL=0.2705;ExAC_nontcga_AFR=0.1804;ExAC_nontcga_AMR=0.2933;ExAC_nontcga_EAS=0.5113;ExAC_nontcga_FIN=0.1627;ExAC_nontcga_NFE=0.2426;ExAC_nontcga_OTH=0.2546;ExAC_nontcga_SAS=0.2997;AF=0.1663;AF_popmax=0.4483;AF_male=0.1681;AF_female=0.1641;AF_raw=0.1660;AF_afr=0.1388;AF_sas=.;AF_amr=0.1964;AF_eas=0.4483;AF_nfe=0.1617;AF_fin=0.1210;AF_asj=0.1517;AF_oth=0.1753;non_topmed_AF_popmax=0.4450;non_neuro_AF_popmax=0.4483;non_cancer_AF_popmax=.;controls_AF_popmax=0.4637;Kaviar_AF=0.172566;Kaviar_AC=26679;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.15444::0.201657;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.837761;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179543382 rs575431423 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15732;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs575431423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.194e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179543399 rs143594088 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16118;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143594088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179544983 rs72650040 C G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20214;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon136:c.G29684C:p.R9895T,TTN:NM_001256850:exon137:c.G32465C:p.R10822T,TTN:NM_001267550:exon139:c.G33416C:p.R11139T;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650040;CLNALLELEID=56053;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.179;VEST3_rankscore=0.261;MetaSVM_score=-1.017;MetaSVM_rankscore=0.246;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.434;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.507;M-CAP_pred=D;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.435;CADD_raw_rankscore=0.235;CADD_phred=12.97;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.295;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.821;Eigen-PC-raw=-0.718;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.085;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.55;GERP++_RS_rankscore=0.222;phyloP100way_vertebrate=-0.307;phyloP100way_vertebrate_rankscore=0.081;phyloP20way_mammalian=-0.382;phyloP20way_mammalian_rankscore=0.065;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=4.319;SiPhy_29way_logOdds_rankscore=0.104;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0047;AF_male=0.0010;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015718;Kaviar_AC=243;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.235671;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545107 rs140681346 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20023;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140681346;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.723e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545177 rs144376839 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19563;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144376839;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0006;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545859 rs36051007 C T 100 PASS AC=49;AF=0.125998;AN=214;NS=2504;DP=17999;EAS_AF=0.0357;AMR_AF=0.1124;AFR_AF=0.0068;EUR_AF=0.3062;SAS_AF=0.2045;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon135:c.G29555A:p.R9852H,TTN:NM_001256850:exon136:c.G32336A:p.R10779H,TTN:NM_001267550:exon138:c.G33287A:p.R11096H;1000g2015aug_all=0.125998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36051007;CLNALLELEID=56051;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.418;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.250;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.0;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.043;MetaSVM_score=-1.023;MetaSVM_rankscore=0.226;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.302;CADD_raw_rankscore=0.338;CADD_phred=18.18;DANN_score=0.845;DANN_rankscore=0.148;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.062;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.152;Eigen-PC-raw=-1.110;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.76;GERP++_RS_rankscore=0.055;phyloP100way_vertebrate=-2.082;phyloP100way_vertebrate_rankscore=0.014;phyloP20way_mammalian=-0.704;phyloP20way_mammalian_rankscore=0.037;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.834;phastCons20way_mammalian_rankscore=0.348;SiPhy_29way_logOdds=4.624;SiPhy_29way_logOdds_rankscore=0.118;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000270574.1;GTEx_V6p_tissue=Heart_Left_Ventricle;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3031;ExAC_nontcga_ALL=0.2310;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0978;ExAC_nontcga_EAS=0.0340;ExAC_nontcga_FIN=0.3948;ExAC_nontcga_NFE=0.3004;ExAC_nontcga_OTH=0.2632;ExAC_nontcga_SAS=0.2133;AF=0.2348;AF_popmax=0.3249;AF_male=0.2266;AF_female=0.2450;AF_raw=0.2347;AF_afr=0.0508;AF_sas=.;AF_amr=0.1295;AF_eas=0.0431;AF_nfe=0.3249;AF_fin=0.3916;AF_asj=0.1897;AF_oth=0.3013;non_topmed_AF_popmax=0.3342;non_neuro_AF_popmax=0.3221;non_cancer_AF_popmax=.;controls_AF_popmax=0.3500;Kaviar_AF=0.234117;Kaviar_AC=36195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.885390;ALLELE_END GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179547455 rs115744476 T C 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=18221;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.A29331G:p.E9777E,TTN:NM_001256850:exon133:c.A32112G:p.E10704E,TTN:NM_001267550:exon135:c.A33063G:p.E11021E;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115744476;CLNALLELEID=56049;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0016;AF=0.0051;AF_popmax=0.0091;AF_male=0.0055;AF_female=0.0045;AF_raw=0.0051;AF_afr=0.0008;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0091;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0089;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0056985;Kaviar_AC=881;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179547465 rs72650034 C T 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=18256;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.G29321A:p.R9774Q,TTN:NM_001256850:exon133:c.G32102A:p.R10701Q,TTN:NM_001267550:exon135:c.G33053A:p.R11018Q;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650034;CLNALLELEID=56047;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.302;SIFT_converted_rankscore=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.178;Polyphen2_HDIV_rankscore=0.273;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_rankscore=0.193;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.42;FATHMM_converted_rankscore=0.695;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.265;MetaSVM_score=-0.981;MetaSVM_rankscore=0.347;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.428;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.377;M-CAP_pred=T;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.213;CADD_raw_rankscore=0.211;CADD_phred=11.82;DANN_score=0.611;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.085;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.179;Eigen-PC-raw=-1.147;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.057;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.16;GERP++_RS_rankscore=0.265;phyloP100way_vertebrate=0.312;phyloP100way_vertebrate_rankscore=0.190;phyloP20way_mammalian=0.016;phyloP20way_mammalian_rankscore=0.142;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.021;phastCons20way_mammalian_rankscore=0.135;SiPhy_29way_logOdds=7.721;SiPhy_29way_logOdds_rankscore=0.277;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179547860 rs2303828 A G 100 PASS AC=45;AF=0.284944;AN=214;NS=2504;DP=18499;EAS_AF=0.4593;AMR_AF=0.2017;AFR_AF=0.2648;EUR_AF=0.1759;SAS_AF=0.3037;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.284944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2095;AF_popmax=0.4568;AF_male=0.2137;AF_female=0.2042;AF_raw=0.2095;AF_afr=0.2668;AF_sas=.;AF_amr=0.2138;AF_eas=0.4568;AF_nfe=0.1709;AF_fin=0.1341;AF_asj=0.1552;AF_oth=0.1956;non_topmed_AF_popmax=0.4530;non_neuro_AF_popmax=0.4568;non_cancer_AF_popmax=.;controls_AF_popmax=0.4736;Kaviar_AF=0.0357693;Kaviar_AC=5530;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179548633 rs577865235 C CT 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16760;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0266;AA=?|TTTTTTTTT|TTTTTTTTTT|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577865235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0004;AF_asj=0.0070;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0003842;Kaviar_AC=10;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179548704 rs72650033 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14555;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0012;AF=0.0019;AF_popmax=0.0029;AF_male=0.0017;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0012;AF_asj=0.0174;AF_oth=0.0047;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549048 rs148231130 C T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17319;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148231130;CLNALLELEID=56041;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0111;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0125;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0035;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0081629;Kaviar_AC=1262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549131 rs116676813 C T 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=17513;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon129:c.G28916A:p.R9639K,TTN:NM_001256850:exon130:c.G31697A:p.R10566K,TTN:NM_001267550:exon132:c.G32648A:p.R10883K;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116676813;CLNALLELEID=56039;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.139;VEST3_rankscore=0.195;MetaSVM_score=-1.034;MetaSVM_rankscore=0.191;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_rankscore=0.164;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.951;CADD_raw_rankscore=0.415;CADD_phred=22.1;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.510;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.450;Eigen-PC-raw=-0.302;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.053;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.43;GERP++_RS_rankscore=0.215;phyloP100way_vertebrate=0.259;phyloP100way_vertebrate_rankscore=0.180;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.756;phastCons100way_vertebrate_rankscore=0.290;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=1.088;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0180;ExAC_nontcga_ALL=0.0122;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0303;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0036;AF=0.0133;AF_popmax=0.0169;AF_male=0.0129;AF_female=0.0139;AF_raw=0.0133;AF_afr=0.0031;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0291;AF_asj=0;AF_oth=0.0202;non_topmed_AF_popmax=0.0164;non_neuro_AF_popmax=0.0169;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0120956;Kaviar_AC=1870;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.899228;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549407 rs72650031 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=14870;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650031;CLNALLELEID=56038;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.953;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-4.2;PROVEAN_converted_rankscore=0.757;PROVEAN_pred=D;VEST3_score=0.297;VEST3_rankscore=0.357;MetaSVM_score=-0.886;MetaSVM_rankscore=0.493;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.436;MetaLR_pred=T;M-CAP_score=0.068;M-CAP_rankscore=0.703;M-CAP_pred=D;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.586;CADD_raw_rankscore=0.372;CADD_phred=20.1;DANN_score=0.834;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.155;Eigen-PC-raw=-0.006;GenoCanyon_score=0.031;GenoCanyon_score_rankscore=0.140;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=1.502;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=9.833;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0020;AF=0.0042;AF_popmax=0.0062;AF_male=0.0048;AF_female=0.0034;AF_raw=0.0041;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0062;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0037;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0063;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0051552;Kaviar_AC=797;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.752270;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +2 179549474 rs201738153 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13980;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28825T:p.P9609S,TTN:NM_001256850:exon129:c.C31606T:p.P10536S,TTN:NM_001267550:exon131:c.C32557T:p.P10853S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201738153;CLNALLELEID=56036;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.051;SIFT_converted_rankscore=0.393;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.44;FATHMM_converted_rankscore=0.698;FATHMM_pred=T;PROVEAN_score=-3.61;PROVEAN_converted_rankscore=0.694;PROVEAN_pred=D;VEST3_score=0.219;VEST3_rankscore=0.314;MetaSVM_score=-0.660;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_rankscore=0.616;MetaLR_pred=T;M-CAP_score=0.068;M-CAP_rankscore=0.704;M-CAP_pred=D;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.695;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.929;DANN_rankscore=0.218;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_rankscore=0.396;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.033;Eigen-PC-raw=0.098;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=4.187;phyloP100way_vertebrate_rankscore=0.579;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=8.787;SiPhy_29way_logOdds_rankscore=0.338;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.561560;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549500 rs112303999 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=14094;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112303999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0233;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0017;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549608 rs545003257 G GA 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=15704;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=AA|A|AA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545003257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0028;ExAC_nontcga_SAS=0.0256;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0033505;Kaviar_AC=518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549707 rs72650030 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14894;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon127:c.C28748T:p.A9583V,TTN:NM_001256850:exon128:c.C31529T:p.A10510V,TTN:NM_001267550:exon130:c.C32480T:p.A10827V;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650030;CLNALLELEID=56033;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.773;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=-0.68;PROVEAN_converted_rankscore=0.195;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.162;MetaSVM_score=-1.075;MetaSVM_rankscore=0.083;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.334;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.420;M-CAP_pred=T;REVEL_score=0.100;REVEL_rankscore=0.292;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.765;CADD_raw_rankscore=0.393;CADD_phred=21.2;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.330;fathmm-MKL_coding_rankscore=0.245;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.372;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.08;GERP++_RS_rankscore=0.260;phyloP100way_vertebrate=0.804;phyloP100way_vertebrate_rankscore=0.266;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.454;SiPhy_29way_logOdds_rankscore=0.158;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0011;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0024;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0016106;Kaviar_AC=249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.297516;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550069 rs16866434 T C 100 PASS AC=5;AF=0.0329473;AN=214;NS=2504;DP=15886;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866434;CLNALLELEID=56031;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.168;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0225;ExAC_nontcga_AFR=0.0806;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0.0080;ExAC_nontcga_FIN=0.0541;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0078;ExAC_nontcga_SAS=0.0185;AF=0.0261;AF_popmax=0.0707;AF_male=0.0277;AF_female=0.0240;AF_raw=0.0261;AF_afr=0.0707;AF_sas=.;AF_amr=0.0153;AF_eas=0.0071;AF_nfe=0.0073;AF_fin=0.0133;AF_asj=0.0034;AF_oth=0.0166;non_topmed_AF_popmax=0.0709;non_neuro_AF_popmax=0.0673;non_cancer_AF_popmax=.;controls_AF_popmax=0.0638;Kaviar_AF=0.00815;Kaviar_AC=1260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.283838;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550302 rs531675493 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550393 rs145357435 T G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18377;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145357435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553542 rs72650027 G T 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=19151;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0304;ExAC_nontcga_NFE=0.0183;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0038;AF=0.0135;AF_popmax=0.0173;AF_male=0.0132;AF_female=0.0140;AF_raw=0.0136;AF_afr=0.0031;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0173;AF_fin=0.0288;AF_asj=0.0069;AF_oth=0.0203;non_topmed_AF_popmax=0.0168;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0123737;Kaviar_AC=1913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553566 rs72650026 A G 100 PASS AC=5;AF=0.00658946;AN=214;NS=2504;DP=19034;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650026;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0040;AF_popmax=0.0083;AF_male=0.0046;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0065;AF_fin=0;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0013583;Kaviar_AC=210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553730 rs535589169 ATTTTTTTT A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179553781 rs536836191 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13461;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.A28362G:p.R9454R,TTN:NM_001256850:exon123:c.A31143G:p.R10381R,TTN:NM_001267550:exon125:c.A32094G:p.R10698R;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536836191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9996;dbscSNV_RF_SCORE=0.986;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553787 rs543069197 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=15019;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28356C:p.P9452P,TTN:NM_001256850:exon123:c.T31137C:p.P10379P,TTN:NM_001267550:exon125:c.T32088C:p.P10696P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543069197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553790 rs553209476 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14058;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28353C:p.P9451P,TTN:NM_001256850:exon123:c.T31134C:p.P10378P,TTN:NM_001267550:exon125:c.T32085C:p.P10695P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553209476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553793 rs573164836 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14206;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28350C:p.A9450A,TTN:NM_001256850:exon123:c.T31131C:p.A10377A,TTN:NM_001267550:exon125:c.T32082C:p.A10694A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573164836;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.738733;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553917 rs2627038 G A 100 PASS AC=14;AF=0.261581;AN=214;NS=2504;DP=18266;EAS_AF=0.129;AMR_AF=0.2305;AFR_AF=0.5091;EUR_AF=0.0755;SAS_AF=0.2771;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.261581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0550;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1856;AF_popmax=0.4622;AF_male=0.1901;AF_female=0.1799;AF_raw=0.1864;AF_afr=0.4622;AF_sas=.;AF_amr=0.2131;AF_eas=0.1194;AF_nfe=0.0574;AF_fin=0.1186;AF_asj=0.0862;AF_oth=0.1116;non_topmed_AF_popmax=0.4630;non_neuro_AF_popmax=0.4544;non_cancer_AF_popmax=.;controls_AF_popmax=0.4558;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179554305 rs2244492 C T 100 PASS AC=63;AF=0.413339;AN=214;NS=2504;DP=19129;EAS_AF=0.1677;AMR_AF=0.3501;AFR_AF=0.6067;EUR_AF=0.3827;SAS_AF=0.4816;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon120:c.G28132A:p.G9378R,TTN:NM_001256850:exon121:c.G30913A:p.G10305R,TTN:NM_001267550:exon123:c.G31864A:p.G10622R;1000g2015aug_all=0.413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244492;CLNALLELEID=56024;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.801;SIFT_converted_rankscore=0.032;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=1.8;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.275;MetaSVM_score=-0.948;MetaSVM_rankscore=0.414;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.097;CADD_raw_rankscore=0.550;CADD_phred=23.7;DANN_score=0.921;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.007;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.246;Eigen-PC-raw=-0.138;GenoCanyon_score=0.023;GenoCanyon_score_rankscore=0.135;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=1.718;phyloP100way_vertebrate_rankscore=0.374;phyloP20way_mammalian=0.044;phyloP20way_mammalian_rankscore=0.157;phastCons100way_vertebrate=0.083;phastCons100way_vertebrate_rankscore=0.222;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=10.226;SiPhy_29way_logOdds_rankscore=0.422;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3605;ExAC_nontcga_ALL=0.4025;ExAC_nontcga_AFR=0.6136;ExAC_nontcga_AMR=0.3610;ExAC_nontcga_EAS=0.1744;ExAC_nontcga_FIN=0.5181;ExAC_nontcga_NFE=0.3711;ExAC_nontcga_OTH=0.4085;ExAC_nontcga_SAS=0.4642;AF=0.4463;AF_popmax=0.6009;AF_male=0.4426;AF_female=0.4508;AF_raw=0.4463;AF_afr=0.6009;AF_sas=.;AF_amr=0.3593;AF_eas=0.1667;AF_nfe=0.3829;AF_fin=0.5101;AF_asj=0.2759;AF_oth=0.4191;non_topmed_AF_popmax=0.6020;non_neuro_AF_popmax=0.5929;non_cancer_AF_popmax=.;controls_AF_popmax=0.5944;Kaviar_AF=0.373372;Kaviar_AC=57724;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.163603;ALLELE_END GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179554549 rs200213832 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19184;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon119:c.C28105G:p.P9369A,TTN:NM_001256850:exon120:c.C30886G:p.P10296A,TTN:NM_001267550:exon122:c.C31837G:p.P10613A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200213832;CLNALLELEID=56023;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.474;Polyphen2_HDIV_rankscore=0.512;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.396;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.703;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.67;FATHMM_converted_rankscore=0.725;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_converted_rankscore=0.928;PROVEAN_pred=D;VEST3_score=0.256;VEST3_rankscore=0.403;MetaSVM_score=-0.209;MetaSVM_rankscore=0.774;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_rankscore=0.730;MetaLR_pred=T;M-CAP_score=0.054;M-CAP_rankscore=0.659;M-CAP_pred=D;REVEL_score=0.303;REVEL_rankscore=0.628;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.700;CADD_raw_rankscore=0.265;CADD_phred=14.41;DANN_score=0.981;DANN_rankscore=0.380;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.702;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.354;Eigen-PC-raw=0.386;GenoCanyon_score=0.183;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=3.016;phyloP100way_vertebrate_rankscore=0.490;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.896;SiPhy_29way_logOdds_rankscore=0.790;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.390007;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179558282 rs2255167 T A 100 PASS AC=50;AF=0.322284;AN=214;NS=2504;DP=15496;EAS_AF=0.5446;AMR_AF=0.2334;AFR_AF=0.2784;EUR_AF=0.2048;SAS_AF=0.3364;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.322284;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2255167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2361;AF_popmax=0.5353;AF_male=0.2407;AF_female=0.2304;AF_raw=0.2364;AF_afr=0.2791;AF_sas=.;AF_amr=0.2388;AF_eas=0.5353;AF_nfe=0.1945;AF_fin=0.1867;AF_asj=0.1910;AF_oth=0.2210;non_topmed_AF_popmax=0.5329;non_neuro_AF_popmax=0.5353;non_cancer_AF_popmax=.;controls_AF_popmax=0.5469;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204198::0.175385;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179558366 rs2042995 T C 100 PASS AC=55;AF=0.477835;AN=214;NS=2504;DP=17705;EAS_AF=0.5685;AMR_AF=0.4193;AFR_AF=0.5877;EUR_AF=0.2455;SAS_AF=0.5164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V;1000g2015aug_all=0.477835;GWAS=rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971;ORegAnno_REGULATORY_P=rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971;avsnp150=rs2042995;CLNALLELEID=56017;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.023;VEST3_rankscore=0.176;MetaSVM_score=-1.002;MetaSVM_rankscore=0.292;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.077;REVEL_rankscore=0.230;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.533;CADD_raw_rankscore=0.246;CADD_phred=13.49;DANN_score=0.713;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.108;fathmm-MKL_coding_rankscore=0.160;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.181;Eigen-PC-raw=0.002;GenoCanyon_score=0.197;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.85;GERP++_RS_rankscore=0.936;phyloP100way_vertebrate=1.455;phyloP100way_vertebrate_rankscore=0.346;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=9.311;SiPhy_29way_logOdds_rankscore=0.369;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2286;ExAC_nontcga_ALL=0.3624;ExAC_nontcga_AFR=0.5698;ExAC_nontcga_AMR=0.4494;ExAC_nontcga_EAS=0.5750;ExAC_nontcga_FIN=0.2636;ExAC_nontcga_NFE=0.2475;ExAC_nontcga_OTH=0.3262;ExAC_nontcga_SAS=0.4996;AF=0.3429;AF_popmax=0.5655;AF_male=0.3489;AF_female=0.3354;AF_raw=0.3429;AF_afr=0.5502;AF_sas=.;AF_amr=0.4194;AF_eas=0.5655;AF_nfe=0.2276;AF_fin=0.2442;AF_asj=0.2241;AF_oth=0.2851;non_topmed_AF_popmax=0.5632;non_neuro_AF_popmax=0.5655;non_cancer_AF_popmax=.;controls_AF_popmax=0.5775;Kaviar_AF=0.327027;Kaviar_AC=50559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.986405;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179563622 rs573246972 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=12958;EAS_AF=0.002;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon109:c.G26970A:p.K8990K,TTN:NM_001256850:exon110:c.G29751A:p.K9917K,TTN:NM_001267550:exon112:c.G30702A:p.K10234K;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573246972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.845248;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179563702 rs116053231 C T 100 PASS AC=8;AF=0.00938498;AN=214;NS=2504;DP=16342;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116053231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0168;AF_popmax=0.0257;AF_male=0.0156;AF_female=0.0183;AF_raw=0.0168;AF_afr=0.0040;AF_sas=.;AF_amr=0.0077;AF_eas=0.0013;AF_nfe=0.0257;AF_fin=0.0203;AF_asj=0.0069;AF_oth=0.0150;non_topmed_AF_popmax=0.0266;non_neuro_AF_popmax=0.0260;non_cancer_AF_popmax=.;controls_AF_popmax=0.0317;Kaviar_AF=0.0161365;Kaviar_AC=420;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179566398 rs144688772 C G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19707;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144688772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0017;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179566802 rs397517532 T TA 100 PASS AC=6;AF=0.130192;AN=214;NS=2504;DP=17896;EAS_AF=0.0278;AMR_AF=0.1585;AFR_AF=0.2224;EUR_AF=0.0378;SAS_AF=0.1861;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.130192;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517532;CLNALLELEID=56003;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0286;ExAC_nontcga_ALL=0.1160;ExAC_nontcga_AFR=0.2371;ExAC_nontcga_AMR=0.2589;ExAC_nontcga_EAS=0.0393;ExAC_nontcga_FIN=0.0672;ExAC_nontcga_NFE=0.0452;ExAC_nontcga_OTH=0.1126;ExAC_nontcga_SAS=0.2185;AF=0.0831;AF_popmax=0.1895;AF_male=0.0842;AF_female=0.0817;AF_raw=0.0793;AF_afr=0.1895;AF_sas=.;AF_amr=0.1779;AF_eas=0.0331;AF_nfe=0.0277;AF_fin=0.0652;AF_asj=0.0336;AF_oth=0.0564;non_topmed_AF_popmax=0.1906;non_neuro_AF_popmax=0.1823;non_cancer_AF_popmax=.;controls_AF_popmax=0.1895;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567230 rs188584219 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567340 rs72650011 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19064;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.C26542T:p.H8848Y,TTN:NM_001256850:exon105:c.C29323T:p.H9775Y,TTN:NM_001267550:exon107:c.C30274T:p.H10092Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650011;CLNALLELEID=55997;CLNDN=Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_converted_rankscore=0.341;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=D;VEST3_score=0.396;VEST3_rankscore=0.736;MetaSVM_score=-0.826;MetaSVM_rankscore=0.536;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_rankscore=0.558;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.416;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.770;CADD_raw_rankscore=0.394;CADD_phred=21.2;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.113;Eigen-PC-raw=0.324;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=5.746;phyloP100way_vertebrate_rankscore=0.681;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.307;SiPhy_29way_logOdds_rankscore=0.658;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0028;AF=0.0058;AF_popmax=0.0104;AF_male=0.0050;AF_female=0.0068;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0039391;Kaviar_AC=609;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.130176;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567431 rs368136221 A C 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=19318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0235;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368136221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0.0269;AF=0.0011;AF_popmax=0.0016;AF_male=0.0015;AF_female=0.0007;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0046312;Kaviar_AC=716;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569147 rs72650008 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=23726;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650008;CLNALLELEID=55993;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0032;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001824;Kaviar_AC=282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569387 rs72650006 T A 100 PASS AC=10;AF=0.0105831;AN=214;NS=2504;DP=19706;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0288;SAS_AF=0.0112;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.A26080T:p.T8694S,TTN:NM_001256850:exon103:c.A28861T:p.T9621S,TTN:NM_001267550:exon105:c.A29812T:p.T9938S;1000g2015aug_all=0.0105831;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650006;CLNALLELEID=55991;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.495;SIFT_converted_rankscore=0.079;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_rankscore=0.262;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.119;Polyphen2_HVAR_rankscore=0.306;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.706;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.08;FATHMM_converted_rankscore=0.394;FATHMM_pred=T;PROVEAN_score=-2.53;PROVEAN_converted_rankscore=0.548;PROVEAN_pred=D;VEST3_score=0.123;VEST3_rankscore=0.138;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.427;CADD_raw_rankscore=0.353;CADD_phred=19.00;DANN_score=0.905;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.882;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.186;Eigen-PC-raw=0.346;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=6.242;phyloP100way_vertebrate_rankscore=0.721;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.181;SiPhy_29way_logOdds_rankscore=0.816;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0191;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0140;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0283;ExAC_nontcga_NFE=0.0252;ExAC_nontcga_OTH=0.0234;ExAC_nontcga_SAS=0.0152;AF=0.0196;AF_popmax=0.0301;AF_male=0.0178;AF_female=0.0220;AF_raw=0.0196;AF_afr=0.0045;AF_sas=.;AF_amr=0.0083;AF_eas=0.0006;AF_nfe=0.0301;AF_fin=0.0242;AF_asj=0.0069;AF_oth=0.0184;non_topmed_AF_popmax=0.0307;non_neuro_AF_popmax=0.0305;non_cancer_AF_popmax=.;controls_AF_popmax=0.0353;Kaviar_AF=0.0191459;Kaviar_AC=2960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.881356;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569400 rs2742344 C T 100 PASS AC=5;AF=0.0842652;AN=214;NS=2504;DP=19794;EAS_AF=0.1954;AMR_AF=0.0375;AFR_AF=0.0991;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.G26067A:p.S8689S,TTN:NM_001256850:exon103:c.G28848A:p.S9616S,TTN:NM_001267550:exon105:c.G29799A:p.S9933S;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742344;CLNALLELEID=55990;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0243;ExAC_nontcga_ALL=0.0539;ExAC_nontcga_AFR=0.0921;ExAC_nontcga_AMR=0.0507;ExAC_nontcga_EAS=0.2222;ExAC_nontcga_FIN=0.0564;ExAC_nontcga_NFE=0.0303;ExAC_nontcga_OTH=0.0295;ExAC_nontcga_SAS=0.0334;AF=0.0548;AF_popmax=0.1900;AF_male=0.0574;AF_female=0.0514;AF_raw=0.0549;AF_afr=0.0846;AF_sas=.;AF_amr=0.0401;AF_eas=0.1900;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0414;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1900;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0474444;Kaviar_AC=7335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.068363;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569436 rs2742343 A G 100 PASS AC=5;AF=0.096845;AN=214;NS=2504;DP=20190;EAS_AF=0.1954;AMR_AF=0.0418;AFR_AF=0.1445;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.T26031C:p.I8677I,TTN:NM_001256850:exon103:c.T28812C:p.I9604I,TTN:NM_001267550:exon105:c.T29763C:p.I9921I;1000g2015aug_all=0.096845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742343;CLNALLELEID=55988;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0248;ExAC_nontcga_ALL=0.0592;ExAC_nontcga_AFR=0.1415;ExAC_nontcga_AMR=0.0531;ExAC_nontcga_EAS=0.2262;ExAC_nontcga_FIN=0.0565;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0383;ExAC_nontcga_SAS=0.0333;AF=0.0698;AF_popmax=0.1896;AF_male=0.0741;AF_female=0.0645;AF_raw=0.0699;AF_afr=0.1378;AF_sas=.;AF_amr=0.0425;AF_eas=0.1896;AF_nfe=0.0263;AF_fin=0.0550;AF_asj=0.0483;AF_oth=0.0451;non_topmed_AF_popmax=0.1917;non_neuro_AF_popmax=0.1896;non_cancer_AF_popmax=.;controls_AF_popmax=0.1947;Kaviar_AF=0.0518622;Kaviar_AC=8018;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.745865;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569583 rs187393718 T A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19542;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187393718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0236;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569705 rs143352892 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19085;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143352892;CLNALLELEID=55987;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0233;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179570114 rs2742342 A T 100 PASS AC=5;AF=0.0866613;AN=214;NS=2504;DP=16118;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.1074;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0866613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0714;ExAC_nontcga_AFR=0.1161;ExAC_nontcga_AMR=0.0747;ExAC_nontcga_EAS=0.2667;ExAC_nontcga_FIN=0.0794;ExAC_nontcga_NFE=0.0379;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0496;AF=0.0587;AF_popmax=0.1833;AF_male=0.0620;AF_female=0.0546;AF_raw=0.0590;AF_afr=0.0999;AF_sas=.;AF_amr=0.0401;AF_eas=0.1833;AF_nfe=0.0261;AF_fin=0.0554;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1853;non_neuro_AF_popmax=0.1833;non_cancer_AF_popmax=.;controls_AF_popmax=0.1905;Kaviar_AF=0.0297732;Kaviar_AC=4603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179570122 rs2742341 C A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179571448 rs4893852 A G 100 PASS AC=5;AF=0.127396;AN=214;NS=2504;DP=19539;EAS_AF=0.0258;AMR_AF=0.1556;AFR_AF=0.2231;EUR_AF=0.0358;SAS_AF=0.1769;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.T25421C:p.I8474T,TTN:NM_001256850:exon100:c.T28202C:p.I9401T,TTN:NM_001267550:exon102:c.T29153C:p.I9718T;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4893852;CLNALLELEID=55983;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.757;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.4;Polyphen2_HDIV_rankscore=0.330;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.191;Polyphen2_HVAR_rankscore=0.347;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.137;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.241;VEST3_rankscore=0.374;MetaSVM_score=-1.018;MetaSVM_rankscore=0.244;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.216;REVEL_rankscore=0.514;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.835;CADD_raw_rankscore=0.402;CADD_phred=21.5;DANN_score=0.909;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.872;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.015;Eigen-PC-raw=0.266;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=6.371;phyloP100way_vertebrate_rankscore=0.729;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.806;SiPhy_29way_logOdds_rankscore=0.855;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0261;ExAC_nontcga_ALL=0.0841;ExAC_nontcga_AFR=0.2076;ExAC_nontcga_AMR=0.1955;ExAC_nontcga_EAS=0.0263;ExAC_nontcga_FIN=0.0582;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0928;ExAC_nontcga_SAS=0.1668;AF=0.0835;AF_popmax=0.2042;AF_male=0.0842;AF_female=0.0826;AF_raw=0.0837;AF_afr=0.2042;AF_sas=.;AF_amr=0.1706;AF_eas=0.0340;AF_nfe=0.0255;AF_fin=0.0526;AF_asj=0.0379;AF_oth=0.0542;non_topmed_AF_popmax=0.2045;non_neuro_AF_popmax=0.2105;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0753807;Kaviar_AC=11654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.246323;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179571697 rs10203085 C T 100 PASS AC=5;AF=0.0942492;AN=214;NS=2504;DP=18635;EAS_AF=0.0258;AMR_AF=0.147;AFR_AF=0.1021;EUR_AF=0.0358;SAS_AF=0.1769;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0942492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10203085;CLNALLELEID=141477;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0239;ExAC_nontcga_ALL=0.1033;ExAC_nontcga_AFR=0.1278;ExAC_nontcga_AMR=0.2649;ExAC_nontcga_EAS=0.0378;ExAC_nontcga_FIN=0.0748;ExAC_nontcga_NFE=0.0393;ExAC_nontcga_OTH=0.0995;ExAC_nontcga_SAS=0.1962;AF=0.0518;AF_popmax=0.1675;AF_male=0.0510;AF_female=0.0527;AF_raw=0.0518;AF_afr=0.0929;AF_sas=.;AF_amr=0.1675;AF_eas=0.0341;AF_nfe=0.0248;AF_fin=0.0527;AF_asj=0.0241;AF_oth=0.0443;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1715;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.0609436;Kaviar_AC=9422;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179572222 rs565152396 G T 100 PASS AC=2;AF=0.00898562;AN=214;NS=2504;DP=19829;EAS_AF=0.0159;AMR_AF=0.0144;AFR_AF=0.0061;EUR_AF=0.0099;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565152396;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.305e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.179e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.466e-05;AF=3.184e-05;AF_popmax=0.0006;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179572445 rs144025230 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19291;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon97:c.G25117A:p.E8373K,TTN:NM_001256850:exon98:c.G27898A:p.E9300K,TTN:NM_001267550:exon100:c.G28849A:p.E9617K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144025230;CLNALLELEID=228800;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.202;SIFT_converted_rankscore=0.202;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_rankscore=0.343;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_rankscore=0.348;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-2.49;PROVEAN_converted_rankscore=0.542;PROVEAN_pred=N;VEST3_score=0.37;VEST3_rankscore=0.503;MetaSVM_score=-0.765;MetaSVM_rankscore=0.572;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.482;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.381;M-CAP_pred=T;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.339;CADD_raw_rankscore=0.460;CADD_phred=22.9;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.618;fathmm-MKL_coding_rankscore=0.313;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.072;Eigen-PC-raw=0.077;GenoCanyon_score=0.122;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.4;GERP++_RS_rankscore=0.779;phyloP100way_vertebrate=1.126;phyloP100way_vertebrate_rankscore=0.307;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.614;phastCons100way_vertebrate_rankscore=0.276;phastCons20way_mammalian=0.909;phastCons20way_mammalian_rankscore=0.387;SiPhy_29way_logOdds=15.752;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.741e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.21e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.437924;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179574384 rs2742332 C T 100 PASS AC=5;AF=0.0752796;AN=214;NS=2504;DP=18869;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0643;EUR_AF=0.0318;SAS_AF=0.0368;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon96:c.G24930A:p.R8310R,TTN:NM_001256850:exon97:c.G27711A:p.R9237R,TTN:NM_001267550:exon99:c.G28662A:p.R9554R;1000g2015aug_all=0.0752796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742332;CLNALLELEID=55977;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0504;ExAC_nontcga_AFR=0.0634;ExAC_nontcga_AMR=0.0475;ExAC_nontcga_EAS=0.2201;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0297;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0323;AF=0.0486;AF_popmax=0.1889;AF_male=0.0503;AF_female=0.0464;AF_raw=0.0487;AF_afr=0.0635;AF_sas=.;AF_amr=0.0355;AF_eas=0.1889;AF_nfe=0.0257;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0404;non_topmed_AF_popmax=0.1910;non_neuro_AF_popmax=0.1889;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0460861;Kaviar_AC=7125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128889;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179575295 rs539641938 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21369;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539641938;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0005;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179575511 rs72648998 C T 100 PASS AC=11;AF=0.0273562;AN=214;NS=2504;DP=17461;EAS_AF=0;AMR_AF=0.0807;AFR_AF=0;EUR_AF=0.0547;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon95:c.G24581A:p.R8194Q,TTN:NM_001256850:exon96:c.G27362A:p.R9121Q,TTN:NM_001267550:exon98:c.G28313A:p.R9438Q;1000g2015aug_all=0.0273562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648998;CLNALLELEID=55973;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.317;SIFT_converted_rankscore=0.137;SIFT_pred=T;Polyphen2_HDIV_score=0.175;Polyphen2_HDIV_rankscore=0.272;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_rankscore=0.210;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.219;VEST3_rankscore=0.298;MetaSVM_score=-0.757;MetaSVM_rankscore=0.576;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.154;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.915;CADD_raw_rankscore=0.527;CADD_phred=23.5;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.530;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.044;Eigen-PC-raw=0.194;GenoCanyon_score=0.905;GenoCanyon_score_rankscore=0.262;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=2.815;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=9.955;SiPhy_29way_logOdds_rankscore=0.406;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0570;ExAC_nontcga_ALL=0.0445;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.0998;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0508;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0349;AF=0.0367;AF_popmax=0.0884;AF_male=0.0365;AF_female=0.0370;AF_raw=0.0367;AF_afr=0.0119;AF_sas=.;AF_amr=0.0884;AF_eas=0;AF_nfe=0.0549;AF_fin=0.0207;AF_asj=0.0448;AF_oth=0.0386;non_topmed_AF_popmax=0.0901;non_neuro_AF_popmax=0.0740;non_cancer_AF_popmax=.;controls_AF_popmax=0.0691;Kaviar_AF=0.0463448;Kaviar_AC=7165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.412747;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179575949 rs200655768 G T 100 PASS AC=28;AF=0.0740815;AN=214;NS=2504;DP=16211;EAS_AF=0.0704;AMR_AF=0.1455;AFR_AF=0.0522;EUR_AF=0.1223;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon94:c.C24282A:p.G8094G,TTN:NM_001256850:exon95:c.C27063A:p.G9021G,TTN:NM_001267550:exon97:c.C28014A:p.G9338G;1000g2015aug_all=0.0740815;GWAS=rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678;ORegAnno_REGULATORY_P=rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678;avsnp150=rs200655768;CLNALLELEID=258139;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=7.38e-05;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.821472;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179576855 rs143368674 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19809;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon93:c.T23970C:p.I7990I,TTN:NM_001256850:exon94:c.T26751C:p.I8917I,TTN:NM_001267550:exon96:c.T27702C:p.I9234I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143368674;CLNALLELEID=102169;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0024;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.004203;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179577736 rs150438031 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=25100;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150438031;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036287;Kaviar_AC=561;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179577998 rs72648994 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20039;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon90:c.A23131G:p.I7711V,TTN:NM_001256850:exon91:c.A25912G:p.I8638V,TTN:NM_001267550:exon93:c.A26863G:p.I8955V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648994;CLNALLELEID=136110;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.368;SIFT_converted_rankscore=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.677;Polyphen2_HDIV_rankscore=0.394;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_rankscore=0.400;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.665;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_converted_rankscore=0.170;PROVEAN_pred=N;VEST3_score=0.185;VEST3_rankscore=0.374;MetaSVM_score=-0.677;MetaSVM_rankscore=0.615;MetaSVM_pred=T;MetaLR_score=0.189;MetaLR_rankscore=0.541;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.184;CADD_raw_rankscore=0.208;CADD_phred=11.66;DANN_score=0.951;DANN_rankscore=0.257;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.554;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.171;Eigen-PC-raw=0.315;GenoCanyon_score=0.910;GenoCanyon_score_rankscore=0.263;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=2.053;phyloP100way_vertebrate_rankscore=0.407;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.982;phastCons100way_vertebrate_rankscore=0.353;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.448;SiPhy_29way_logOdds_rankscore=0.837;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0309;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0214;ExAC_nontcga_SAS=0.0087;AF=0.0039;AF_popmax=0.0020;AF_male=0.0031;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0027813;Kaviar_AC=430;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.404834;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578108 rs71393436 T TACAAA,TACAAAACAAA 100 PASS AC=46,1;AF=0.355431,0.0211661;AN=214;NS=2504;DP=34461;EAS_AF=0.5089,0.0308;AMR_AF=0.3501,0.0058;AFR_AF=0.289,0.0484;EUR_AF=0.1918,0.006;SAS_AF=0.4591,0.001;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374810711;CLNALLELEID=55954;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.1251;ExAC_nontcga_AFR=0.1943;ExAC_nontcga_AMR=0.2929;ExAC_nontcga_EAS=0.392;ExAC_nontcga_FIN=0.1292;ExAC_nontcga_NFE=0.0840;ExAC_nontcga_OTH=0.12;ExAC_nontcga_SAS=0.0979;AF=0.2066;AF_popmax=0.4532;AF_male=0.2115;AF_female=0.2003;AF_raw=0.2093;AF_afr=0.2465;AF_sas=.;AF_amr=0.3405;AF_eas=0.4532;AF_nfe=0.1709;AF_fin=0.1369;AF_asj=0.1354;AF_oth=0.1911;non_topmed_AF_popmax=0.4492;non_neuro_AF_popmax=0.4532;non_cancer_AF_popmax=.;controls_AF_popmax=0.4771;Kaviar_AF=0.0035769;Kaviar_AC=553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0211661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71393436;CLNALLELEID=178128;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0499;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0376;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0143;AF_popmax=0.0452;AF_male=0.0137;AF_female=0.0150;AF_raw=0.0144;AF_afr=0.0452;AF_sas=.;AF_amr=0.0060;AF_eas=0.0033;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0449;non_neuro_AF_popmax=0.0435;non_cancer_AF_popmax=.;controls_AF_popmax=0.0415;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|2 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179578159 rs72648992 A G 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=22128;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0031;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0095;AF_popmax=0.0153;AF_male=0.0099;AF_female=0.0090;AF_raw=0.0094;AF_afr=0.0032;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0153;AF_fin=0.0026;AF_asj=0.0175;AF_oth=0.0074;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0114876;Kaviar_AC=299;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578703 rs142812510 C T 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=20116;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0204;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.G22950A:p.P7650P,TTN:NM_001256850:exon90:c.G25731A:p.P8577P,TTN:NM_001267550:exon92:c.G26682A:p.P8894P;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142812510;CLNALLELEID=55952;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0049;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0187;AF=0.0032;AF_popmax=0.0045;AF_male=0.0028;AF_female=0.0036;AF_raw=0.0032;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0040;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0045;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0045795;Kaviar_AC=708;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.749361;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578704 rs13398235 G A 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=20072;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22949T:p.P7650L,TTN:NM_001256850:exon90:c.C25730T:p.P8577L,TTN:NM_001267550:exon92:c.C26681T:p.P8894L;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13398235;CLNALLELEID=55951;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.755;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.548;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-4.69;PROVEAN_converted_rankscore=0.797;PROVEAN_pred=D;VEST3_score=0.263;VEST3_rankscore=0.320;MetaSVM_score=-1.124;MetaSVM_rankscore=0.021;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.156;REVEL_rankscore=0.412;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.101;CADD_raw_rankscore=0.313;CADD_phred=16.86;DANN_score=0.810;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.286;Eigen-PC-raw=-0.092;GenoCanyon_score=0.452;GenoCanyon_score_rankscore=0.205;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=3.701;phyloP100way_vertebrate_rankscore=0.543;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.015;phastCons20way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0256;ExAC_nontcga_ALL=0.0793;ExAC_nontcga_AFR=0.1529;ExAC_nontcga_AMR=0.1941;ExAC_nontcga_EAS=0.0265;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0933;ExAC_nontcga_SAS=0.1661;AF=0.0691;AF_popmax=0.1663;AF_male=0.0685;AF_female=0.0698;AF_raw=0.0692;AF_afr=0.1534;AF_sas=.;AF_amr=0.1663;AF_eas=0.0342;AF_nfe=0.0251;AF_fin=0.0535;AF_asj=0.0379;AF_oth=0.0515;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0705812;Kaviar_AC=10912;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.749361;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578730 rs2562839 G A 100 PASS AC=50;AF=0.444688;AN=214;NS=2504;DP=20000;EAS_AF=0.6567;AMR_AF=0.379;AFR_AF=0.4644;EUR_AF=0.2237;SAS_AF=0.4734;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22923T:p.S7641S,TTN:NM_001256850:exon90:c.C25704T:p.S8568S,TTN:NM_001267550:exon92:c.C26655T:p.S8885S;1000g2015aug_all=0.444688;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562839;CLNALLELEID=55949;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2012;ExAC_nontcga_ALL=0.3142;ExAC_nontcga_AFR=0.4235;ExAC_nontcga_AMR=0.4170;ExAC_nontcga_EAS=0.6681;ExAC_nontcga_FIN=0.2082;ExAC_nontcga_NFE=0.2029;ExAC_nontcga_OTH=0.2718;ExAC_nontcga_SAS=0.4326;AF=0.2904;AF_popmax=0.6516;AF_male=0.2974;AF_female=0.2817;AF_raw=0.2904;AF_afr=0.4231;AF_sas=.;AF_amr=0.3924;AF_eas=0.6516;AF_nfe=0.2013;AF_fin=0.1948;AF_asj=0.1897;AF_oth=0.2399;non_topmed_AF_popmax=0.6493;non_neuro_AF_popmax=0.6516;non_cancer_AF_popmax=.;controls_AF_popmax=0.6779;Kaviar_AF=0.296794;Kaviar_AC=45885;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.007646;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179578937 rs2742330 A G 100 PASS AC=5;AF=0.0804712;AN=214;NS=2504;DP=20358;EAS_AF=0.1964;AMR_AF=0.0389;AFR_AF=0.0832;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0804712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0238;ExAC_nontcga_ALL=0.0525;ExAC_nontcga_AFR=0.0800;ExAC_nontcga_AMR=0.0484;ExAC_nontcga_EAS=0.2211;ExAC_nontcga_FIN=0.0550;ExAC_nontcga_NFE=0.0300;ExAC_nontcga_OTH=0.0381;ExAC_nontcga_SAS=0.0331;AF=0.0539;AF_popmax=0.1876;AF_male=0.0562;AF_female=0.0511;AF_raw=0.0541;AF_afr=0.0822;AF_sas=.;AF_amr=0.0377;AF_eas=0.1876;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1897;non_neuro_AF_popmax=0.1876;non_cancer_AF_popmax=.;controls_AF_popmax=0.1927;Kaviar_AF=0.0473215;Kaviar_AC=7316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579093 rs12693164 T C 100 PASS AC=40;AF=0.247005;AN=214;NS=2504;DP=21117;EAS_AF=0.4365;AMR_AF=0.1859;AFR_AF=0.1936;EUR_AF=0.1561;SAS_AF=0.2607;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22676G:p.N7559S,TTN:NM_001256850:exon89:c.A25457G:p.N8486S,TTN:NM_001267550:exon91:c.A26408G:p.N8803S;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12693164;CLNALLELEID=55942;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.016;MetaSVM_score=-0.992;MetaSVM_rankscore=0.320;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.186;REVEL_rankscore=0.466;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.712;CADD_raw_rankscore=0.044;CADD_phred=0.068;DANN_score=0.409;DANN_rankscore=0.029;fathmm-MKL_coding_score=0.848;fathmm-MKL_coding_rankscore=0.436;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.945;Eigen-PC-raw=-0.804;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.110;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.25;GERP++_RS_rankscore=0.272;phyloP100way_vertebrate=0.816;phyloP100way_vertebrate_rankscore=0.267;phyloP20way_mammalian=-0.211;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=12.175;SiPhy_29way_logOdds_rankscore=0.533;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1506;ExAC_nontcga_ALL=0.1814;ExAC_nontcga_AFR=0.1651;ExAC_nontcga_AMR=0.1763;ExAC_nontcga_EAS=0.4254;ExAC_nontcga_FIN=0.0940;ExAC_nontcga_NFE=0.1451;ExAC_nontcga_OTH=0.1449;ExAC_nontcga_SAS=0.2340;AF=0.1599;AF_popmax=0.4266;AF_male=0.1640;AF_female=0.1548;AF_raw=0.1600;AF_afr=0.1615;AF_sas=.;AF_amr=0.1868;AF_eas=0.4266;AF_nfe=0.1494;AF_fin=0.0858;AF_asj=0.1034;AF_oth=0.1455;non_topmed_AF_popmax=0.4228;non_neuro_AF_popmax=0.4266;non_cancer_AF_popmax=.;controls_AF_popmax=0.4473;Kaviar_AF=0.175845;Kaviar_AC=27186;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.090561;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579212 rs2562838 T C 100 PASS AC=50;AF=0.483427;AN=214;NS=2504;DP=19704;EAS_AF=0.6587;AMR_AF=0.3934;AFR_AF=0.6021;EUR_AF=0.2237;SAS_AF=0.4734;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22557G:p.E7519E,TTN:NM_001256850:exon89:c.A25338G:p.E8446E,TTN:NM_001267550:exon91:c.A26289G:p.E8763E;1000g2015aug_all=0.483427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562838;CLNALLELEID=55941;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2019;ExAC_nontcga_ALL=0.3276;ExAC_nontcga_AFR=0.5526;ExAC_nontcga_AMR=0.4279;ExAC_nontcga_EAS=0.6732;ExAC_nontcga_FIN=0.2077;ExAC_nontcga_NFE=0.2045;ExAC_nontcga_OTH=0.2815;ExAC_nontcga_SAS=0.4343;AF=0.3234;AF_popmax=0.6509;AF_male=0.3311;AF_female=0.3139;AF_raw=0.3234;AF_afr=0.5403;AF_sas=.;AF_amr=0.4033;AF_eas=0.6509;AF_nfe=0.2009;AF_fin=0.1953;AF_asj=0.1910;AF_oth=0.2459;non_topmed_AF_popmax=0.6485;non_neuro_AF_popmax=0.6509;non_cancer_AF_popmax=.;controls_AF_popmax=0.6799;Kaviar_AF=0.307622;Kaviar_AC=47559;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.23384::0.172854;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.792847;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579366 rs2627044 G A 100 PASS AC=5;AF=0.0800719;AN=214;NS=2504;DP=20550;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0825;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0800719;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0540;AF_popmax=0.1907;AF_male=0.0566;AF_female=0.0507;AF_raw=0.0540;AF_afr=0.0821;AF_sas=.;AF_amr=0.0366;AF_eas=0.1907;AF_nfe=0.0260;AF_fin=0.0555;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1929;non_neuro_AF_popmax=0.1907;non_cancer_AF_popmax=.;controls_AF_popmax=0.1945;Kaviar_AF=0.0079106;Kaviar_AC=1223;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579694 rs2562837 T A 100 PASS AC=5;AF=0.0754792;AN=214;NS=2504;DP=20268;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0651;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562837;CLNALLELEID=141550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0528;ExAC_nontcga_AFR=0.0639;ExAC_nontcga_AMR=0.0477;ExAC_nontcga_EAS=0.2213;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0302;ExAC_nontcga_OTH=0.0321;ExAC_nontcga_SAS=0.0360;AF=0.0489;AF_popmax=0.1900;AF_male=0.0506;AF_female=0.0467;AF_raw=0.0488;AF_afr=0.0637;AF_sas=.;AF_amr=0.0366;AF_eas=0.1900;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0404;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1900;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0453293;Kaviar_AC=7008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579822 rs2562836 T A 100 PASS AC=50;AF=0.444489;AN=214;NS=2504;DP=20441;EAS_AF=0.6577;AMR_AF=0.379;AFR_AF=0.4644;EUR_AF=0.2237;SAS_AF=0.4714;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.A22359T:p.L7453L,TTN:NM_001256850:exon88:c.A25140T:p.L8380L,TTN:NM_001267550:exon90:c.A26091T:p.L8697L;1000g2015aug_all=0.444489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562836;CLNALLELEID=55938;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2005;ExAC_nontcga_ALL=0.3143;ExAC_nontcga_AFR=0.4256;ExAC_nontcga_AMR=0.4176;ExAC_nontcga_EAS=0.6710;ExAC_nontcga_FIN=0.2073;ExAC_nontcga_NFE=0.2026;ExAC_nontcga_OTH=0.2754;ExAC_nontcga_SAS=0.4307;AF=0.2915;AF_popmax=0.6520;AF_male=0.2979;AF_female=0.2834;AF_raw=0.2916;AF_afr=0.4269;AF_sas=.;AF_amr=0.3910;AF_eas=0.6520;AF_nfe=0.2008;AF_fin=0.1952;AF_asj=0.1897;AF_oth=0.2408;non_topmed_AF_popmax=0.6505;non_neuro_AF_popmax=0.6520;non_cancer_AF_popmax=.;controls_AF_popmax=0.6781;Kaviar_AF=0.290714;Kaviar_AC=44945;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.178495;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.537750;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579977 rs72648987 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580171 rs545310957 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20113;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545310957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.016e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.904e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580210 rs10183237 G A 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=18546;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10183237;CLNALLELEID=55934;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0251;ExAC_nontcga_ALL=0.0806;ExAC_nontcga_AFR=0.1510;ExAC_nontcga_AMR=0.1930;ExAC_nontcga_EAS=0.0263;ExAC_nontcga_FIN=0.0585;ExAC_nontcga_NFE=0.0282;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.1888;AF=0.0687;AF_popmax=0.1663;AF_male=0.0681;AF_female=0.0694;AF_raw=0.0687;AF_afr=0.1520;AF_sas=.;AF_amr=0.1663;AF_eas=0.0336;AF_nfe=0.0250;AF_fin=0.0535;AF_asj=0.0379;AF_oth=0.0515;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0703484;Kaviar_AC=10876;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580434 rs2742329 A G 100 PASS AC=3;AF=0.0507188;AN=214;NS=2504;DP=19787;EAS_AF=0.1944;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon86:c.T21975C:p.Y7325Y,TTN:NM_001256850:exon87:c.T24756C:p.Y8252Y,TTN:NM_001267550:exon89:c.T25707C:p.Y8569Y;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742329;CLNALLELEID=55931;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0726;ExAC_nontcga_EAS=0.2790;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0388;ExAC_nontcga_SAS=0.0113;AF=0.0310;AF_popmax=0.1889;AF_male=0.0319;AF_female=0.0298;AF_raw=0.0310;AF_afr=0.0052;AF_sas=.;AF_amr=0.0318;AF_eas=0.1889;AF_nfe=0.0239;AF_fin=0.0555;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1910;non_neuro_AF_popmax=0.1889;non_cancer_AF_popmax=.;controls_AF_popmax=0.1943;Kaviar_AF=0.0359374;Kaviar_AC=5556;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.497784;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580525 rs10183361 C T 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=19028;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10183361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0246;ExAC_nontcga_ALL=0.1142;ExAC_nontcga_AFR=0.1757;ExAC_nontcga_AMR=0.2461;ExAC_nontcga_EAS=0.0397;ExAC_nontcga_FIN=0.0763;ExAC_nontcga_NFE=0.0394;ExAC_nontcga_OTH=0.12;ExAC_nontcga_SAS=0.1966;AF=0.0687;AF_popmax=0.1663;AF_male=0.0683;AF_female=0.0691;AF_raw=0.0686;AF_afr=0.1520;AF_sas=.;AF_amr=0.1663;AF_eas=0.0342;AF_nfe=0.0251;AF_fin=0.0526;AF_asj=0.0379;AF_oth=0.0516;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.053738;Kaviar_AC=8308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581835 rs2562832 C A 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=18292;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21894T:p.Q7298H,TTN:NM_001256850:exon86:c.G24675T:p.Q8225H,TTN:NM_001267550:exon88:c.G25626T:p.Q8542H;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562832;CLNALLELEID=55928;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.593;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.415;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.13;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.253;MetaSVM_score=-1.000;MetaSVM_rankscore=0.299;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.149;REVEL_rankscore=0.399;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.191;CADD_raw_rankscore=0.112;CADD_phred=4.588;DANN_score=0.732;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.060;fathmm-MKL_coding_rankscore=0.118;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.673;Eigen-PC-raw=-0.790;GenoCanyon_score=0.976;GenoCanyon_score_rankscore=0.297;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-7.84;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=-1.347;phyloP100way_vertebrate_rankscore=0.027;phyloP20way_mammalian=-0.889;phyloP20way_mammalian_rankscore=0.027;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=1.190;SiPhy_29way_logOdds_rankscore=0.017;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0214;ExAC_nontcga_ALL=0.0412;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0.2203;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0277;ExAC_nontcga_OTH=0.0315;ExAC_nontcga_SAS=0.0099;AF=0.0310;AF_popmax=0.1893;AF_male=0.0320;AF_female=0.0298;AF_raw=0.0311;AF_afr=0.0053;AF_sas=.;AF_amr=0.0330;AF_eas=0.1893;AF_nfe=0.0239;AF_fin=0.0550;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1914;non_neuro_AF_popmax=0.1893;non_cancer_AF_popmax=.;controls_AF_popmax=0.1932;Kaviar_AF=0.0369853;Kaviar_AC=5718;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.868842;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581933 rs576038518 T G 100 PASS AC=7;AF=0.028754;AN=214;NS=2504;DP=19239;EAS_AF=0.0427;AMR_AF=0.0389;AFR_AF=0.0189;EUR_AF=0.0477;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.A21796C:p.T7266P,TTN:NM_001256850:exon86:c.A24577C:p.T8193P,TTN:NM_001267550:exon88:c.A25528C:p.T8510P;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576038518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.137;SIFT_converted_rankscore=0.259;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.535;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.539;Polyphen2_HVAR_rankscore=0.470;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.657;PROVEAN_pred=D;VEST3_score=0.43;VEST3_rankscore=0.562;MetaSVM_score=-0.404;MetaSVM_rankscore=0.719;MetaSVM_pred=T;MetaLR_score=0.299;MetaLR_rankscore=0.670;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.408;REVEL_rankscore=0.723;MutPred_score=0.687;MutPred_rankscore=0.825;CADD_raw=1.592;CADD_raw_rankscore=0.253;CADD_phred=13.81;DANN_score=0.917;DANN_rankscore=0.204;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.530;Eigen-PC-raw=0.555;GenoCanyon_score=0.827;GenoCanyon_score_rankscore=0.246;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=3.627;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.881;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009314;Kaviar_AC=144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.857827;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581971 rs149855485 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19501;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149855485;CLNALLELEID=55924;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.043;SIFT_converted_rankscore=0.413;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_rankscore=0.517;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.324;VEST3_rankscore=0.441;MetaSVM_score=-0.418;MetaSVM_rankscore=0.715;MetaSVM_pred=T;MetaLR_score=0.313;MetaLR_rankscore=0.683;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.192;REVEL_rankscore=0.476;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.691;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_rankscore=0.408;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.420;Eigen-PC-raw=0.442;GenoCanyon_score=0.365;GenoCanyon_score_rankscore=0.198;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=1.594;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.790;phastCons100way_vertebrate_rankscore=0.294;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.812;SiPhy_29way_logOdds_rankscore=0.965;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.234590;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582063 rs72648986 A T 100 PASS AC=2;AF=0.028754;AN=214;NS=2504;DP=21619;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0809;EUR_AF=0.003;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.T21666A:p.D7222E,TTN:NM_001256850:exon86:c.T24447A:p.D8149E,TTN:NM_001267550:exon88:c.T25398A:p.D8466E;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648986;CLNALLELEID=55923;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.397;PROVEAN_pred=N;VEST3_score=0.09;VEST3_rankscore=0.114;MetaSVM_score=-1.108;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.042;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.979;CADD_raw_rankscore=0.188;CADD_phred=10.54;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.705;fathmm-MKL_coding_rankscore=0.344;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.390;Eigen-PC-raw=-0.174;GenoCanyon_score=0.032;GenoCanyon_score_rankscore=0.140;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.59;GERP++_RS_rankscore=0.561;phyloP100way_vertebrate=-0.126;phyloP100way_vertebrate_rankscore=0.105;phyloP20way_mammalian=0.237;phyloP20way_mammalian_rankscore=0.263;phastCons100way_vertebrate=0.445;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=11.165;SiPhy_29way_logOdds_rankscore=0.476;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0749;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0234;AF=0.0229;AF_popmax=0.0765;AF_male=0.0245;AF_female=0.0209;AF_raw=0.0230;AF_afr=0.0765;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0.0103;AF_oth=0.0092;non_topmed_AF_popmax=0.0769;non_neuro_AF_popmax=0.0750;non_cancer_AF_popmax=.;controls_AF_popmax=0.0789;Kaviar_AF=0.0103492;Kaviar_AC=1600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.417210;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582162 rs62178977 C T 100 PASS AC=40;AF=0.24401;AN=214;NS=2504;DP=21443;EAS_AF=0.4355;AMR_AF=0.1844;AFR_AF=0.1936;EUR_AF=0.1571;SAS_AF=0.2464;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.24401;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178977;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1603;AF_popmax=0.4244;AF_male=0.1644;AF_female=0.1550;AF_raw=0.1605;AF_afr=0.1634;AF_sas=.;AF_amr=0.1875;AF_eas=0.4244;AF_nfe=0.1496;AF_fin=0.0857;AF_asj=0.1;AF_oth=0.1427;non_topmed_AF_popmax=0.4205;non_neuro_AF_popmax=0.4244;non_cancer_AF_popmax=.;controls_AF_popmax=0.4436;Kaviar_AF=0.0347538;Kaviar_AC=5373;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582166 rs143761783 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21288;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143761783;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582327 rs13390491 C T 100 PASS AC=40;AF=0.24381;AN=214;NS=2504;DP=21045;EAS_AF=0.4355;AMR_AF=0.183;AFR_AF=0.1936;EUR_AF=0.1571;SAS_AF=0.2464;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.G21542A:p.S7181N,TTN:NM_001256850:exon85:c.G24323A:p.S8108N,TTN:NM_001267550:exon87:c.G25274A:p.S8425N;1000g2015aug_all=0.24381;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13390491;CLNALLELEID=55921;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.257;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_rankscore=0.265;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.688;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.389;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.097;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.700;CADD_raw_rankscore=0.265;CADD_phred=14.41;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_rankscore=0.286;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.011;Eigen-PC-raw=0.098;GenoCanyon_score=0.106;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=1.670;phyloP100way_vertebrate_rankscore=0.369;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.936;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=10.360;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1508;ExAC_nontcga_ALL=0.1805;ExAC_nontcga_AFR=0.1700;ExAC_nontcga_AMR=0.1755;ExAC_nontcga_EAS=0.4268;ExAC_nontcga_FIN=0.0929;ExAC_nontcga_NFE=0.1456;ExAC_nontcga_OTH=0.1426;ExAC_nontcga_SAS=0.2259;AF=0.1601;AF_popmax=0.4215;AF_male=0.1643;AF_female=0.1547;AF_raw=0.1604;AF_afr=0.1636;AF_sas=.;AF_amr=0.1875;AF_eas=0.4215;AF_nfe=0.1495;AF_fin=0.0858;AF_asj=0.1;AF_oth=0.1427;non_topmed_AF_popmax=0.4176;non_neuro_AF_popmax=0.4215;non_cancer_AF_popmax=.;controls_AF_popmax=0.4425;Kaviar_AF=0.17503;Kaviar_AC=27060;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.891581;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582537 rs2627043 G T 100 PASS AC=50;AF=0.444888;AN=214;NS=2504;DP=21070;EAS_AF=0.6577;AMR_AF=0.379;AFR_AF=0.4637;EUR_AF=0.2247;SAS_AF=0.4734;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.C21332A:p.A7111E,TTN:NM_001256850:exon85:c.C24113A:p.A8038E,TTN:NM_001267550:exon87:c.C25064A:p.A8355E;1000g2015aug_all=0.444888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627043;CLNALLELEID=55915;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.858;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=2.66;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.141;VEST3_rankscore=0.311;MetaSVM_score=-0.990;MetaSVM_rankscore=0.327;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.566;CADD_raw_rankscore=0.370;CADD_phred=19.89;DANN_score=0.865;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.201;Eigen-PC-raw=0.314;GenoCanyon_score=0.899;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=4.073;phyloP100way_vertebrate_rankscore=0.570;phyloP20way_mammalian=0.152;phyloP20way_mammalian_rankscore=0.238;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.684;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.2018;ExAC_nontcga_ALL=0.3169;ExAC_nontcga_AFR=0.4268;ExAC_nontcga_AMR=0.4185;ExAC_nontcga_EAS=0.6690;ExAC_nontcga_FIN=0.2059;ExAC_nontcga_NFE=0.2042;ExAC_nontcga_OTH=0.2778;ExAC_nontcga_SAS=0.4476;AF=0.2909;AF_popmax=0.6466;AF_male=0.2980;AF_female=0.2821;AF_raw=0.2913;AF_afr=0.4267;AF_sas=.;AF_amr=0.3939;AF_eas=0.6466;AF_nfe=0.2006;AF_fin=0.1937;AF_asj=0.1897;AF_oth=0.2380;non_topmed_AF_popmax=0.6450;non_neuro_AF_popmax=0.6466;non_cancer_AF_popmax=.;controls_AF_popmax=0.6704;Kaviar_AF=0.294537;Kaviar_AC=45536;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.178495;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.894624;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582605 rs6750145 A G 100 PASS AC=42;AF=0.279153;AN=214;NS=2504;DP=21106;EAS_AF=0.4355;AMR_AF=0.196;AFR_AF=0.298;EUR_AF=0.16;SAS_AF=0.274;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6750145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1901;AF_popmax=0.4239;AF_male=0.1965;AF_female=0.1821;AF_raw=0.1905;AF_afr=0.2642;AF_sas=.;AF_amr=0.1931;AF_eas=0.4239;AF_nfe=0.1523;AF_fin=0.0858;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4200;non_neuro_AF_popmax=0.4239;non_cancer_AF_popmax=.;controls_AF_popmax=0.4427;Kaviar_AF=0.0369594;Kaviar_AC=5714;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.206888;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6750145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1901;AF_popmax=0.4239;AF_male=0.1965;AF_female=0.1821;AF_raw=0.1905;AF_afr=0.2642;AF_sas=.;AF_amr=0.1931;AF_eas=0.4239;AF_nfe=0.1523;AF_fin=0.0858;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4200;non_neuro_AF_popmax=0.4239;non_cancer_AF_popmax=.;controls_AF_popmax=0.4427;Kaviar_AF=0.0369594;Kaviar_AC=5714;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.206888;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582760 rs72648984 T C 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=21353;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21241G:p.K7081E,TTN:NM_001256850:exon84:c.A24022G:p.K8008E,TTN:NM_001267550:exon86:c.A24973G:p.K8325E;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648984;CLNALLELEID=55910;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.677;SIFT_converted_rankscore=0.045;SIFT_pred=T;Polyphen2_HDIV_score=0.216;Polyphen2_HDIV_rankscore=0.285;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_rankscore=0.275;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.697;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.421;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.412;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.518;CADD_raw_rankscore=0.244;CADD_phred=13.41;DANN_score=0.913;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.025;Eigen-PC-raw=0.181;GenoCanyon_score=0.185;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=1.545;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.967;phastCons100way_vertebrate_rankscore=0.338;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.957;SiPhy_29way_logOdds_rankscore=0.348;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0076;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0150;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0059;AF_popmax=0.0070;AF_male=0.0058;AF_female=0.0060;AF_raw=0.0059;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0070;AF_fin=0.0152;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0065;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0060737;Kaviar_AC=939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.831918;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582824 rs72648983 C T 100 PASS AC=3;AF=0.0235623;AN=214;NS=2504;DP=21153;EAS_AF=0.0109;AMR_AF=0.013;AFR_AF=0.0537;EUR_AF=0.0119;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.G21177A:p.K7059K,TTN:NM_001256850:exon84:c.G23958A:p.K7986K,TTN:NM_001267550:exon86:c.G24909A:p.K8303K;1000g2015aug_all=0.0235623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648983;CLNALLELEID=55908;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0142;ExAC_nontcga_AFR=0.0399;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0059;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0114;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0177;AF=0.0170;AF_popmax=0.0376;AF_male=0.0168;AF_female=0.0173;AF_raw=0.0171;AF_afr=0.0376;AF_sas=.;AF_amr=0.0106;AF_eas=0.0071;AF_nfe=0.0077;AF_fin=0.0158;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0374;non_neuro_AF_popmax=0.0354;non_cancer_AF_popmax=.;controls_AF_popmax=0.0326;Kaviar_AF=0.0129623;Kaviar_AC=2004;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.076578;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582853 rs72648982 T C 100 PASS AC=5;AF=0.0121805;AN=214;NS=2504;DP=21179;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0278;SAS_AF=0.0204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21148G:p.R7050G,TTN:NM_001256850:exon84:c.A23929G:p.R7977G,TTN:NM_001267550:exon86:c.A24880G:p.R8294G;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648982;CLNALLELEID=55907;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.153;Polyphen2_HDIV_rankscore=0.265;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.243;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-3.53;PROVEAN_converted_rankscore=0.685;PROVEAN_pred=D;VEST3_score=0.258;VEST3_rankscore=0.421;MetaSVM_score=-0.759;MetaSVM_rankscore=0.575;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_rankscore=0.421;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.513;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.340;fathmm-MKL_coding_rankscore=0.247;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.176;Eigen-PC-raw=-0.097;GenoCanyon_score=0.107;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=1.207;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=13.612;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0130;ExAC_nontcga_NFE=0.0295;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0171;AF=0.0184;AF_popmax=0.0256;AF_male=0.0189;AF_female=0.0177;AF_raw=0.0184;AF_afr=0.0069;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0256;AF_fin=0.0164;AF_asj=0.0690;AF_oth=0.0239;non_topmed_AF_popmax=0.0228;non_neuro_AF_popmax=0.0271;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0214616;Kaviar_AC=3318;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.939035;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583317 rs72648978 G A 100 PASS AC=23;AF=0.0734824;AN=214;NS=2504;DP=20597;EAS_AF=0.0198;AMR_AF=0.0692;AFR_AF=0.0802;EUR_AF=0.0944;SAS_AF=0.1012;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.C20784T:p.T6928T,TTN:NM_001256850:exon83:c.C23565T:p.T7855T,TTN:NM_001267550:exon85:c.C24516T:p.T8172T;1000g2015aug_all=0.0734824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648978;CLNALLELEID=55899;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1101;ExAC_nontcga_ALL=0.0886;ExAC_nontcga_AFR=0.0764;ExAC_nontcga_AMR=0.0423;ExAC_nontcga_EAS=0.0209;ExAC_nontcga_FIN=0.0924;ExAC_nontcga_NFE=0.1052;ExAC_nontcga_OTH=0.0794;ExAC_nontcga_SAS=0.1036;AF=0.0935;AF_popmax=0.1118;AF_male=0.0935;AF_female=0.0936;AF_raw=0.0936;AF_afr=0.0793;AF_sas=.;AF_amr=0.0354;AF_eas=0.0225;AF_nfe=0.1118;AF_fin=0.0957;AF_asj=0.0586;AF_oth=0.0974;non_topmed_AF_popmax=0.1139;non_neuro_AF_popmax=0.1104;non_cancer_AF_popmax=.;controls_AF_popmax=0.1148;Kaviar_AF=0.0885305;Kaviar_AC=13687;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.103769;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179583326 rs569773062 T G 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=20599;EAS_AF=0.004;AMR_AF=0.0058;AFR_AF=0.0038;EUR_AF=0.0089;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.A20775C:p.E6925D,TTN:NM_001256850:exon83:c.A23556C:p.E7852D,TTN:NM_001267550:exon85:c.A24507C:p.E8169D;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569773062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.149;SIFT_converted_rankscore=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.492;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=-1.78;PROVEAN_converted_rankscore=0.420;PROVEAN_pred=N;VEST3_score=0.14;VEST3_rankscore=0.459;MetaSVM_score=-0.801;MetaSVM_rankscore=0.551;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.484;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.541;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=0.343;MutPred_rankscore=0.337;CADD_raw=1.396;CADD_raw_rankscore=0.231;CADD_phred=12.77;DANN_score=0.879;DANN_rankscore=0.170;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.409;Eigen-PC-raw=0.407;GenoCanyon_score=0.715;GenoCanyon_score_rankscore=0.228;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=1.123;phyloP100way_vertebrate_rankscore=0.307;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=8.32;SiPhy_29way_logOdds_rankscore=0.311;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.564293;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583398 rs62178978 T C 100 PASS AC=42;AF=0.271565;AN=214;NS=2504;DP=21003;EAS_AF=0.4375;AMR_AF=0.196;AFR_AF=0.2678;EUR_AF=0.16;SAS_AF=0.274;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.271565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178978;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1537;ExAC_nontcga_ALL=0.1932;ExAC_nontcga_AFR=0.2498;ExAC_nontcga_AMR=0.1786;ExAC_nontcga_EAS=0.4253;ExAC_nontcga_FIN=0.0942;ExAC_nontcga_NFE=0.1481;ExAC_nontcga_OTH=0.1510;ExAC_nontcga_SAS=0.2558;AF=0.1857;AF_popmax=0.4277;AF_male=0.1920;AF_female=0.1779;AF_raw=0.1857;AF_afr=0.2474;AF_sas=.;AF_amr=0.1946;AF_eas=0.4277;AF_nfe=0.1523;AF_fin=0.0860;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4239;non_neuro_AF_popmax=0.4277;non_cancer_AF_popmax=.;controls_AF_popmax=0.4471;Kaviar_AF=0.185825;Kaviar_AC=28729;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.199868;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179583496 rs16866465 T G 100 PASS AC=40;AF=0.238818;AN=214;NS=2504;DP=20020;EAS_AF=0.4375;AMR_AF=0.183;AFR_AF=0.1732;EUR_AF=0.1571;SAS_AF=0.2464;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon81:c.A20699C:p.E6900A,TTN:NM_001256850:exon82:c.A23480C:p.E7827A,TTN:NM_001267550:exon84:c.A24431C:p.E8144A;1000g2015aug_all=0.238818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866465;CLNALLELEID=55896;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.132;VEST3_rankscore=0.155;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.227;REVEL_rankscore=0.531;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.586;DANN_score=0.746;DANN_rankscore=0.104;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.894;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.120;Eigen-PC-raw=0.038;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.375;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=5.950;phyloP100way_vertebrate_rankscore=0.698;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.158;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=16.529;SiPhy_29way_logOdds_rankscore=0.841;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1517;ExAC_nontcga_ALL=0.1785;ExAC_nontcga_AFR=0.1534;ExAC_nontcga_AMR=0.1732;ExAC_nontcga_EAS=0.4265;ExAC_nontcga_FIN=0.0941;ExAC_nontcga_NFE=0.1447;ExAC_nontcga_OTH=0.1424;ExAC_nontcga_SAS=0.2246;AF=0.1574;AF_popmax=0.4244;AF_male=0.1614;AF_female=0.1523;AF_raw=0.1576;AF_afr=0.1524;AF_sas=.;AF_amr=0.1879;AF_eas=0.4244;AF_nfe=0.1498;AF_fin=0.0857;AF_asj=0.1;AF_oth=0.1442;non_topmed_AF_popmax=0.4213;non_neuro_AF_popmax=0.4244;non_cancer_AF_popmax=.;controls_AF_popmax=0.4448;Kaviar_AF=0.174739;Kaviar_AC=27015;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.218816;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179583966 rs368226720 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.G20419A:p.D6807N,TTN:NM_001256850:exon81:c.G23200A:p.D7734N,TTN:NM_001267550:exon83:c.G24151A:p.D8051N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368226720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.343;Polyphen2_HDIV_rankscore=0.317;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.952;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.44;FATHMM_converted_rankscore=0.808;FATHMM_pred=T;PROVEAN_score=-3.57;PROVEAN_converted_rankscore=0.690;PROVEAN_pred=D;VEST3_score=0.057;VEST3_rankscore=0.305;MetaSVM_score=0.043;MetaSVM_rankscore=0.831;MetaSVM_pred=D;MetaLR_score=0.509;MetaLR_rankscore=0.815;MetaLR_pred=D;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.561;REVEL_rankscore=0.822;MutPred_score=0.85;MutPred_rankscore=0.952;CADD_raw=3.412;CADD_raw_rankscore=0.468;CADD_phred=23.0;DANN_score=0.985;DANN_rankscore=0.416;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.297;Eigen-PC-raw=0.371;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=6.120;phyloP100way_vertebrate_rankscore=0.711;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=15.258;SiPhy_29way_logOdds_rankscore=0.732;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.010188;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583967 rs185062935 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.C20418T:p.S6806S,TTN:NM_001256850:exon81:c.C23199T:p.S7733S,TTN:NM_001267550:exon83:c.C24150T:p.S8050S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185062935;CLNALLELEID=55890;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.010188;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584152 rs201653851 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18761;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.C20233T:p.R6745C,TTN:NM_001256850:exon81:c.C23014T:p.R7672C,TTN:NM_001267550:exon83:c.C23965T:p.R7989C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201653851;CLNALLELEID=173221;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.065;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_rankscore=0.692;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.822;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-5.18;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.364;VEST3_rankscore=0.723;MetaSVM_score=0.205;MetaSVM_rankscore=0.860;MetaSVM_pred=D;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.498;M-CAP_pred=D;REVEL_score=0.493;REVEL_rankscore=0.782;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.575;CADD_raw_rankscore=0.487;CADD_phred=23.2;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.535;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.848;Eigen-PC-raw=0.795;GenoCanyon_score=0.352;GenoCanyon_score_rankscore=0.197;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.13;GERP++_RS_rankscore=0.696;phyloP100way_vertebrate=2.204;phyloP100way_vertebrate_rankscore=0.422;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=14.070;SiPhy_29way_logOdds_rankscore=0.642;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.849e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.304e-05;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.661391;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584366 rs201766927 G T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19774;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon79:c.C20121A:p.A6707A,TTN:NM_001256850:exon80:c.C22902A:p.A7634A,TTN:NM_001267550:exon82:c.C23853A:p.A7951A;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201766927;CLNALLELEID=55887;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0143;AF=0.0011;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0031759;Kaviar_AC=491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.461981;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584831 rs149523263 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20573;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149523263;CLNALLELEID=55886;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.315;SIFT_converted_rankscore=0.138;SIFT_pred=T;Polyphen2_HDIV_score=0.885;Polyphen2_HDIV_rankscore=0.467;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.484;Polyphen2_HVAR_rankscore=0.454;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.417;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.333;VEST3_rankscore=0.448;MetaSVM_score=-0.546;MetaSVM_rankscore=0.670;MetaSVM_pred=T;MetaLR_score=0.246;MetaLR_rankscore=0.616;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.555;CADD_raw_rankscore=0.147;CADD_phred=7.837;DANN_score=0.858;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.315;fathmm-MKL_coding_rankscore=0.241;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.447;Eigen-PC-raw=-0.586;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.108;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-2.56;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=0.894;phyloP100way_vertebrate_rankscore=0.278;phyloP20way_mammalian=-0.204;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.173;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.947;phastCons20way_mammalian_rankscore=0.422;SiPhy_29way_logOdds=13.015;SiPhy_29way_logOdds_rankscore=0.580;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280483;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179585257 rs72648972 G C 100 PASS AC=2;AF=0.00499201;AN=214;NS=2504;DP=18538;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648972;CLNALLELEID=55880;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.654;SIFT_converted_rankscore=0.048;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.052;MetaSVM_score=-0.872;MetaSVM_rankscore=0.504;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.136;REVEL_rankscore=0.373;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.967;CADD_raw_rankscore=0.297;CADD_phred=16.00;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_rankscore=0.523;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.128;Eigen-PC-raw=0.044;GenoCanyon_score=0.238;GenoCanyon_score_rankscore=0.185;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.88;GERP++_RS_rankscore=0.630;phyloP100way_vertebrate=1.595;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.796;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0193;AF=0.0012;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0010;AF_raw=0.0012;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.021140;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179585266 rs2562831 C T 100 PASS AC=214;AF=0.982029;AN=214;NS=2504;DP=18397;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9349;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q;1000g2015aug_all=0.982029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562831;CLNALLELEID=55879;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9951;ExAC_nontcga_AFR=0.9446;ExAC_nontcga_AMR=0.9973;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9844;AF_popmax=1;AF_male=0.9831;AF_female=0.9861;AF_raw=0.9844;AF_afr=0.9448;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.943694;Kaviar_AC=145897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079564;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179585393 rs2562830 A G 100 PASS AC=50;AF=0.460064;AN=214;NS=2504;DP=17443;EAS_AF=0.6597;AMR_AF=0.3919;AFR_AF=0.5129;EUR_AF=0.2247;SAS_AF=0.4734;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.460064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562830;CLNALLELEID=55875;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.016;esp6500siv2_ea=0.1985;ExAC_nontcga_ALL=0.3319;ExAC_nontcga_AFR=0.4883;ExAC_nontcga_AMR=0.4314;ExAC_nontcga_EAS=0.6765;ExAC_nontcga_FIN=0.2095;ExAC_nontcga_NFE=0.2129;ExAC_nontcga_OTH=0.2919;ExAC_nontcga_SAS=0.4751;AF=0.3009;AF_popmax=0.65;AF_male=0.3076;AF_female=0.2925;AF_raw=0.3013;AF_afr=0.4617;AF_sas=.;AF_amr=0.3998;AF_eas=0.65;AF_nfe=0.2008;AF_fin=0.1953;AF_asj=0.1759;AF_oth=0.2376;non_topmed_AF_popmax=0.6485;non_neuro_AF_popmax=0.65;non_cancer_AF_popmax=.;controls_AF_popmax=0.6711;Kaviar_AF=0.298812;Kaviar_AC=46197;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.197508;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179585963 rs2742328 A G 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=14742;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742328;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0574;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0680;ExAC_nontcga_EAS=0.2686;ExAC_nontcga_FIN=0.0677;ExAC_nontcga_NFE=0.0387;ExAC_nontcga_OTH=0.0353;ExAC_nontcga_SAS=0.0123;AF=0.0309;AF_popmax=0.1869;AF_male=0.0318;AF_female=0.0299;AF_raw=0.0310;AF_afr=0.0054;AF_sas=.;AF_amr=0.0318;AF_eas=0.1869;AF_nfe=0.0239;AF_fin=0.0553;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1890;non_neuro_AF_popmax=0.1869;non_cancer_AF_popmax=.;controls_AF_popmax=0.1914;Kaviar_AF=0.0332208;Kaviar_AC=5136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179586604 rs72648970 C G 100 PASS AC=8;AF=0.0201677;AN=214;NS=2504;DP=21152;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0008;EUR_AF=0.0368;SAS_AF=0.0491;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon75:c.G19054C:p.D6352H,TTN:NM_001256850:exon76:c.G21835C:p.D7279H,TTN:NM_001267550:exon78:c.G22786C:p.D7596H;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648970;CLNALLELEID=55870;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.09;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.935;Polyphen2_HVAR_rankscore=0.653;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.242;VEST3_rankscore=0.305;MetaSVM_score=-0.373;MetaSVM_rankscore=0.729;MetaSVM_pred=T;MetaLR_score=0.204;MetaLR_rankscore=0.561;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.558;CADD_raw_rankscore=0.369;CADD_phred=19.84;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.880;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.804;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=4.119;phyloP100way_vertebrate_rankscore=0.574;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000163492.9;GTEx_V6p_tissue=Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0386;ExAC_nontcga_ALL=0.0292;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0239;ExAC_nontcga_SAS=0.0533;AF=0.0258;AF_popmax=0.0398;AF_male=0.0246;AF_female=0.0272;AF_raw=0.0258;AF_afr=0.0053;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0398;AF_fin=0.0273;AF_asj=0.0103;AF_oth=0.0387;non_topmed_AF_popmax=0.0429;non_neuro_AF_popmax=0.0393;non_cancer_AF_popmax=.;controls_AF_popmax=0.0455;Kaviar_AF=0.0278651;Kaviar_AC=4308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.768209;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +2 179586901 rs143276035 G GT 100 PASS AC=2;AF=0.00758786;AN=214;NS=2504;DP=22930;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0328;SAS_AF=0.001;AA=|||unknown(STR4?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143276035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0223;ExAC_nontcga_ALL=0.0184;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0870;ExAC_nontcga_NFE=0.0205;ExAC_nontcga_OTH=0.0296;ExAC_nontcga_SAS=0.0018;AF=0.0241;AF_popmax=0.0246;AF_male=0.0236;AF_female=0.0247;AF_raw=0.0241;AF_afr=0.0033;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0246;AF_fin=0.0879;AF_asj=0.0103;AF_oth=0.0322;non_topmed_AF_popmax=0.0261;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0282;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179587130 rs12693166 C G 100 PASS AC=40;AF=0.247005;AN=214;NS=2504;DP=19242;EAS_AF=0.4375;AMR_AF=0.1844;AFR_AF=0.202;EUR_AF=0.1581;SAS_AF=0.2474;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon74:c.G18652C:p.D6218H,TTN:NM_001256850:exon75:c.G21433C:p.D7145H,TTN:NM_001267550:exon77:c.G22384C:p.D7462H;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12693166;CLNALLELEID=55863;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_converted_rankscore=0.280;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.79;FATHMM_converted_rankscore=0.737;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.261;VEST3_rankscore=0.320;MetaSVM_score=-1.081;MetaSVM_rankscore=0.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.532;REVEL_rankscore=0.806;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.840;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.962;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.933;Eigen-PC-raw=0.931;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=7.898;phyloP100way_vertebrate_rankscore=0.859;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1523;ExAC_nontcga_ALL=0.1804;ExAC_nontcga_AFR=0.1740;ExAC_nontcga_AMR=0.1745;ExAC_nontcga_EAS=0.4259;ExAC_nontcga_FIN=0.0940;ExAC_nontcga_NFE=0.1449;ExAC_nontcga_OTH=0.1424;ExAC_nontcga_SAS=0.2250;AF=0.1623;AF_popmax=0.4260;AF_male=0.1664;AF_female=0.1573;AF_raw=0.1626;AF_afr=0.1699;AF_sas=.;AF_amr=0.1879;AF_eas=0.4260;AF_nfe=0.1499;AF_fin=0.0856;AF_asj=0.1;AF_oth=0.1452;non_topmed_AF_popmax=0.4221;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.4481;Kaviar_AF=0.176026;Kaviar_AC=27214;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.414269;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179587546 rs16866473 A G 100 PASS AC=5;AF=0.0940495;AN=214;NS=2504;DP=18678;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.0885;EUR_AF=0.0358;SAS_AF=0.1902;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.T18348C:p.D6116D,TTN:NM_001256850:exon74:c.T21129C:p.D7043D,TTN:NM_001267550:exon76:c.T22080C:p.D7360D;1000g2015aug_all=0.0940495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866473;CLNALLELEID=55860;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0242;ExAC_nontcga_ALL=0.0753;ExAC_nontcga_AFR=0.0926;ExAC_nontcga_AMR=0.1923;ExAC_nontcga_EAS=0.0264;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0273;ExAC_nontcga_OTH=0.0914;ExAC_nontcga_SAS=0.1750;AF=0.0502;AF_popmax=0.1619;AF_male=0.0495;AF_female=0.0511;AF_raw=0.0503;AF_afr=0.0869;AF_sas=.;AF_amr=0.1619;AF_eas=0.0336;AF_nfe=0.0250;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1630;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.479550;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179587552 rs34562585 T C 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.A18342G:p.K6114K,TTN:NM_001256850:exon74:c.A21123G:p.K7041K,TTN:NM_001267550:exon76:c.A22074G:p.K7358K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34562585;CLNALLELEID=55858;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0057;AF_popmax=0.0090;AF_male=0.0064;AF_female=0.0050;AF_raw=0.0057;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0074126;Kaviar_AC=1146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.657078;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179587670 rs374870814 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20395;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374870814;CLNALLELEID=450028;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.020239;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179587687 rs2742327 T C 100 PASS AC=50;AF=0.48722;AN=214;NS=2504;DP=20869;EAS_AF=0.6587;AMR_AF=0.3991;AFR_AF=0.612;EUR_AF=0.2247;SAS_AF=0.4744;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.48722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2016;ExAC_nontcga_ALL=0.3289;ExAC_nontcga_AFR=0.5613;ExAC_nontcga_AMR=0.4278;ExAC_nontcga_EAS=0.6778;ExAC_nontcga_FIN=0.2079;ExAC_nontcga_NFE=0.2059;ExAC_nontcga_OTH=0.2816;ExAC_nontcga_SAS=0.4376;AF=0.3264;AF_popmax=0.6479;AF_male=0.3338;AF_female=0.3170;AF_raw=0.3263;AF_afr=0.5496;AF_sas=.;AF_amr=0.4033;AF_eas=0.6479;AF_nfe=0.2017;AF_fin=0.1951;AF_asj=0.1897;AF_oth=0.2459;non_topmed_AF_popmax=0.6464;non_neuro_AF_popmax=0.6479;non_cancer_AF_popmax=.;controls_AF_popmax=0.6714;Kaviar_AF=0.30693;Kaviar_AC=47452;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.237643::0.177967;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179588535 rs148937450 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=22158;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148937450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0003;AF=0.0059;AF_popmax=0.0089;AF_male=0.0056;AF_female=0.0063;AF_raw=0.0059;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0055;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.003454;Kaviar_AC=534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179588908 rs72648963 A C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21998;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648963;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0172;ExAC_nontcga_SAS=0.0078;AF=0.0039;AF_popmax=0.0020;AF_male=0.0031;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.002749;Kaviar_AC=425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179589058 rs72648960 G A 100 PASS AC=2;AF=0.0357428;AN=214;NS=2504;DP=22442;EAS_AF=0.1379;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V;1000g2015aug_all=0.0357428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648960;CLNALLELEID=55845;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.074;SIFT_converted_rankscore=0.346;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_rankscore=0.282;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-2.43;PROVEAN_converted_rankscore=0.532;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.451;MetaSVM_score=-1.127;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.007;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.243;REVEL_rankscore=0.554;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.818;CADD_raw_rankscore=0.399;CADD_phred=21.5;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_rankscore=0.543;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.070;Eigen-PC-raw=0.266;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.418;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=0.757;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.946;phastCons100way_vertebrate_rankscore=0.326;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=16.243;SiPhy_29way_logOdds_rankscore=0.822;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0174;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0.1198;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0284;AF=0.0117;AF_popmax=0.1192;AF_male=0.0116;AF_female=0.0118;AF_raw=0.0117;AF_afr=0.0021;AF_sas=.;AF_amr=0.0012;AF_eas=0.1192;AF_nfe=0.0037;AF_fin=0.0250;AF_asj=0.0069;AF_oth=0.0165;non_topmed_AF_popmax=0.1209;non_neuro_AF_popmax=0.1192;non_cancer_AF_popmax=.;controls_AF_popmax=0.1;Kaviar_AF=0.0150904;Kaviar_AC=2333;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299206;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179589217 rs531296995 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17525;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.G17153A:p.G5718E,TTN:NM_001256850:exon70:c.G19934A:p.G6645E,TTN:NM_001267550:exon72:c.G20885A:p.G6962E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531296995;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.4;FATHMM_converted_rankscore=0.805;FATHMM_pred=T;PROVEAN_score=-5.17;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.507;VEST3_rankscore=0.551;MetaSVM_score=0.471;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.713;MetaLR_rankscore=0.902;MetaLR_pred=D;M-CAP_score=0.062;M-CAP_rankscore=0.685;M-CAP_pred=D;REVEL_score=0.611;REVEL_rankscore=0.850;MutPred_score=0.832;MutPred_rankscore=0.941;CADD_raw=3.330;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.823;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.883;Eigen-PC-raw=0.862;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=6.153;phyloP100way_vertebrate_rankscore=0.714;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.541;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.596e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.020355;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179589241 rs17355446 G A 100 PASS AC=3;AF=0.0515176;AN=214;NS=2504;DP=17137;EAS_AF=0.002;AMR_AF=0.1441;AFR_AF=0.0023;EUR_AF=0.0298;SAS_AF=0.1258;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17129T:p.A5710V,TTN:NM_001256850:exon70:c.C19910T:p.A6637V,TTN:NM_001267550:exon72:c.C20861T:p.A6954V;1000g2015aug_all=0.0515176;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17355446;CLNALLELEID=55842;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.548;SIFT_converted_rankscore=0.066;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_rankscore=0.434;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.228;Polyphen2_HVAR_rankscore=0.364;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.04;FATHMM_converted_rankscore=0.402;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.222;MetaSVM_score=-1.154;MetaSVM_rankscore=0.009;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.167;CADD_raw_rankscore=0.440;CADD_phred=22.7;DANN_score=0.988;DANN_rankscore=0.464;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.820;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.494;Eigen-PC-raw=0.617;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=6.549;phyloP100way_vertebrate_rankscore=0.736;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.521;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0190;ExAC_nontcga_ALL=0.0552;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.1876;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0197;ExAC_nontcga_OTH=0.0816;ExAC_nontcga_SAS=0.1387;AF=0.0230;AF_popmax=0.1560;AF_male=0.0214;AF_female=0.0252;AF_raw=0.0231;AF_afr=0.0072;AF_sas=.;AF_amr=0.1560;AF_eas=0.0006;AF_nfe=0.0194;AF_fin=0.0521;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.1621;non_neuro_AF_popmax=0.1558;non_cancer_AF_popmax=.;controls_AF_popmax=0.1557;Kaviar_AF=0.0467652;Kaviar_AC=7230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.726248;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179589260 rs147210608 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17138;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.G17110A:p.A5704T,TTN:NM_001256850:exon70:c.G19891A:p.A6631T,TTN:NM_001267550:exon72:c.G20842A:p.A6948T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147210608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_rankscore=0.566;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.561;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.235;VEST3_rankscore=0.640;MetaSVM_score=-0.838;MetaSVM_rankscore=0.528;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.676;M-CAP_pred=D;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.991;CADD_raw_rankscore=0.537;CADD_phred=23.6;DANN_score=0.988;DANN_rankscore=0.453;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.715;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.669;Eigen-PC-raw=0.716;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=20.521;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.115e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.337e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.937e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.375e-05;AF_popmax=0.0012;AF_male=5.727e-05;AF_female=7.187e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.751399;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179590133 rs200118743 C G 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=21390;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G17066C:p.G5689A,TTN:NM_001256850:exon69:c.G19847C:p.G6616A,TTN:NM_001267550:exon71:c.G20798C:p.G6933A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200118743;CLNALLELEID=55840;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.803;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_converted_rankscore=0.498;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.319;MetaSVM_score=-0.933;MetaSVM_rankscore=0.436;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.215;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.139;M-CAP_pred=T;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.435;CADD_raw_rankscore=0.354;CADD_phred=19.04;DANN_score=0.965;DANN_rankscore=0.294;fathmm-MKL_coding_score=0.638;fathmm-MKL_coding_rankscore=0.319;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.297;Eigen-PC-raw=0.050;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.93;GERP++_RS_rankscore=0.643;phyloP100way_vertebrate=5.543;phyloP100way_vertebrate_rankscore=0.667;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=14.206;SiPhy_29way_logOdds_rankscore=0.651;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006533;Kaviar_AC=101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.354348;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179590329 rs17355460 C T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=20718;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G16870A:p.G5624R,TTN:NM_001256850:exon69:c.G19651A:p.G6551R,TTN:NM_001267550:exon71:c.G20602A:p.G6868R;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17355460;CLNALLELEID=55837;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.085;SIFT_converted_rankscore=0.327;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.48;FATHMM_converted_rankscore=0.812;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_converted_rankscore=0.791;PROVEAN_pred=D;VEST3_score=0.309;VEST3_rankscore=0.372;MetaSVM_score=0.562;MetaSVM_rankscore=0.914;MetaSVM_pred=D;MetaLR_score=0.674;MetaLR_rankscore=0.887;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.596;REVEL_rankscore=0.842;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.112;CADD_raw_rankscore=0.434;CADD_phred=22.5;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.795;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.863;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.86;GERP++_RS_rankscore=0.939;phyloP100way_vertebrate=5.852;phyloP100way_vertebrate_rankscore=0.690;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.348;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=20.563;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0173;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0163;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0098;AF=0.0106;AF_popmax=0.0149;AF_male=0.0108;AF_female=0.0103;AF_raw=0.0106;AF_afr=0.0041;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0149;AF_fin=0.0109;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0119856;Kaviar_AC=1853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.232425;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179591757 rs573294708 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21103;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573294708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179591917 rs146627500 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18775;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146627500;CLNALLELEID=55832;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.114;SIFT_converted_rankscore=0.286;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.127;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.405;MetaSVM_score=-1.083;MetaSVM_rankscore=0.068;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_rankscore=0.238;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.660;CADD_raw_rankscore=0.013;CADD_phred=0.002;DANN_score=0.621;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.054;fathmm-MKL_coding_rankscore=0.111;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.212;Eigen-PC-raw=-1.264;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.427;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-6.74;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.713;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=0.144;phyloP20way_mammalian_rankscore=0.231;phastCons100way_vertebrate=0.033;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=2.94;SiPhy_29way_logOdds_rankscore=0.054;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.530850;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179592161 rs2255480 A G 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=21792;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2255480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0310;AF_popmax=0.1892;AF_male=0.0318;AF_female=0.0300;AF_raw=0.0311;AF_afr=0.0052;AF_sas=.;AF_amr=0.0318;AF_eas=0.1892;AF_nfe=0.0239;AF_fin=0.0552;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1913;non_neuro_AF_popmax=0.1892;non_cancer_AF_popmax=.;controls_AF_popmax=0.1941;Kaviar_AF=0.0062742;Kaviar_AC=970;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593270 rs76771282 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21199;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.T15651C:p.N5217N,TTN:NM_001256850:exon64:c.T18432C:p.N6144N,TTN:NM_001267550:exon66:c.T19383C:p.N6461N;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76771282;CLNALLELEID=55823;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0116;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0029;AF=0.0065;AF_popmax=0.0100;AF_male=0.0064;AF_female=0.0067;AF_raw=0.0065;AF_afr=0.0023;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0058;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0095;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0074;Kaviar_AF=0.0074449;Kaviar_AC=1151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.545508;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593352 rs11888217 C T 100 PASS AC=5;AF=0.0932508;AN=214;NS=2504;DP=20407;EAS_AF=0.0238;AMR_AF=0.1513;AFR_AF=0.087;EUR_AF=0.0358;SAS_AF=0.1912;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.G15569A:p.S5190N,TTN:NM_001256850:exon64:c.G18350A:p.S6117N,TTN:NM_001267550:exon66:c.G19301A:p.S6434N;1000g2015aug_all=0.0932508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11888217;CLNALLELEID=55821;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.376;SIFT_converted_rankscore=0.113;SIFT_pred=T;Polyphen2_HDIV_score=0.549;Polyphen2_HDIV_rankscore=0.362;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.258;Polyphen2_HVAR_rankscore=0.376;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_converted_rankscore=0.395;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.031;MetaSVM_score=-0.792;MetaSVM_rankscore=0.556;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.043;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.249;REVEL_rankscore=0.562;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.515;CADD_raw_rankscore=0.244;CADD_phred=13.39;DANN_score=0.891;DANN_rankscore=0.179;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.648;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.259;Eigen-PC-raw=0.306;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.333;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=1.525;phyloP100way_vertebrate_rankscore=0.353;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.666;SiPhy_29way_logOdds_rankscore=0.850;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0246;ExAC_nontcga_ALL=0.0745;ExAC_nontcga_AFR=0.0883;ExAC_nontcga_AMR=0.1894;ExAC_nontcga_EAS=0.0244;ExAC_nontcga_FIN=0.0580;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0904;ExAC_nontcga_SAS=0.1742;AF=0.0487;AF_popmax=0.1627;AF_male=0.0482;AF_female=0.0493;AF_raw=0.0487;AF_afr=0.0817;AF_sas=.;AF_amr=0.1627;AF_eas=0.0315;AF_nfe=0.0250;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0479;non_topmed_AF_popmax=0.1691;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0656654;Kaviar_AC=10152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.031751;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593862 rs72648950 G A 100 PASS AC=1;AF=0.0241613;AN=214;NS=2504;DP=21144;EAS_AF=0;AMR_AF=0.147;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon62:c.C15171T:p.T5057T,TTN:NM_001256850:exon63:c.C17952T:p.T5984T,TTN:NM_001267550:exon65:c.C18903T:p.T6301T;1000g2015aug_all=0.0241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648950;CLNALLELEID=55814;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0282;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.1846;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0285;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0137;AF=0.0120;AF_popmax=0.1466;AF_male=0.0100;AF_female=0.0144;AF_raw=0.0120;AF_afr=0.0051;AF_sas=.;AF_amr=0.1466;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0259;AF_asj=0.0069;AF_oth=0.0175;non_topmed_AF_popmax=0.1522;non_neuro_AF_popmax=0.1486;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.442886;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179594059 rs184412722 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20330;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184412722;CLNALLELEID=55811;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.362;Polyphen2_HDIV_rankscore=0.322;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.11;Polyphen2_HVAR_rankscore=0.299;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.32;FATHMM_converted_rankscore=0.585;FATHMM_pred=T;PROVEAN_score=-2.25;PROVEAN_converted_rankscore=0.503;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.245;MetaSVM_score=-0.555;MetaSVM_rankscore=0.666;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.286;REVEL_rankscore=0.609;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.545;CADD_raw_rankscore=0.146;CADD_phred=7.770;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.782;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.319;Eigen-PC-raw=0.382;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=6.260;phyloP100way_vertebrate_rankscore=0.723;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=12.2;SiPhy_29way_logOdds_rankscore=0.534;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037904;Kaviar_AC=586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.083578;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179594653 rs556770980 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18769;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon60:c.G14595T:p.K4865N,TTN:NM_001256850:exon61:c.G17376T:p.K5792N,TTN:NM_001267550:exon63:c.G18327T:p.K6109N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556770980;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.602;Polyphen2_HVAR_rankscore=0.490;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.65;PROVEAN_converted_rankscore=0.567;PROVEAN_pred=D;VEST3_score=0.103;VEST3_rankscore=0.182;MetaSVM_score=-0.211;MetaSVM_rankscore=0.774;MetaSVM_pred=T;MetaLR_score=0.369;MetaLR_rankscore=0.729;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.559;M-CAP_pred=D;REVEL_score=0.384;REVEL_rankscore=0.705;MutPred_score=0.53;MutPred_rankscore=0.638;CADD_raw=3.147;CADD_raw_rankscore=0.438;CADD_phred=22.6;DANN_score=0.967;DANN_rankscore=0.302;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.604;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.461;Eigen-PC-raw=0.469;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.345;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=1.603;phyloP100way_vertebrate_rankscore=0.362;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.308;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.04e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.019e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.247269;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595117 rs17076 C G 100 PASS AC=46;AF=0.348043;AN=214;NS=2504;DP=19088;EAS_AF=0.6637;AMR_AF=0.3386;AFR_AF=0.2859;EUR_AF=0.1889;SAS_AF=0.2771;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348043;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17076;CLNALLELEID=141541;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1789;ExAC_nontcga_ALL=0.2632;ExAC_nontcga_AFR=0.2657;ExAC_nontcga_AMR=0.4183;ExAC_nontcga_EAS=0.6747;ExAC_nontcga_FIN=0.1533;ExAC_nontcga_NFE=0.1845;ExAC_nontcga_OTH=0.1954;ExAC_nontcga_SAS=0.2780;AF=0.2243;AF_popmax=0.6472;AF_male=0.2302;AF_female=0.2169;AF_raw=0.2241;AF_afr=0.2589;AF_sas=.;AF_amr=0.3578;AF_eas=0.6472;AF_nfe=0.1770;AF_fin=0.1431;AF_asj=0.1517;AF_oth=0.1869;non_topmed_AF_popmax=0.6462;non_neuro_AF_popmax=0.6472;non_cancer_AF_popmax=.;controls_AF_popmax=0.6638;Kaviar_AF=0.233147;Kaviar_AC=36045;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.188213::0.234971;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179595372 rs146983095 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=17189;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon58:c.A14156G:p.E4719G,TTN:NM_001256850:exon59:c.A16937G:p.E5646G,TTN:NM_001267550:exon61:c.A17888G:p.E5963G;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146983095;CLNALLELEID=55798;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.535;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.648;PROVEAN_pred=D;VEST3_score=0.258;VEST3_rankscore=0.319;MetaSVM_score=-1.087;MetaSVM_rankscore=0.061;MetaSVM_pred=T;MetaLR_score=0.044;MetaLR_rankscore=0.187;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.110;REVEL_rankscore=0.316;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.928;CADD_raw_rankscore=0.292;CADD_phred=15.76;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.661;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=0.188;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=5.049;phyloP100way_vertebrate_rankscore=0.638;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=10.771;SiPhy_29way_logOdds_rankscore=0.453;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0029;AF=0.0065;AF_popmax=0.0099;AF_male=0.0063;AF_female=0.0067;AF_raw=0.0065;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0099;AF_fin=0.0058;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0074643;Kaviar_AC=1154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.107385;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595577 rs555154960;rs576861043;rs72394294 GT GTT,G 100 PASS AC=7,6;AF=0.111422,0.109225;AN=214;NS=2504;DP=19246;EAS_AF=0.0238,0.1925;AMR_AF=0.1571,0.1542;AFR_AF=0.1445,0.1316;EUR_AF=0.0388,0.0328;SAS_AF=0.1994,0.0399;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109225;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35147775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0738;AF_popmax=0.1903;AF_male=0.0758;AF_female=0.0712;AF_raw=0.0693;AF_afr=0.1208;AF_sas=.;AF_amr=0.1903;AF_eas=0.1897;AF_nfe=0.0284;AF_fin=0.0796;AF_asj=0.0496;AF_oth=0.0528;non_topmed_AF_popmax=0.1918;non_neuro_AF_popmax=0.1897;non_cancer_AF_popmax=.;controls_AF_popmax=0.2151;Kaviar_AF=0.0034962;Kaviar_AC=91;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATO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GT 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|1 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|2 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595588 rs376726021 TA T 100 PASS AC=2;AF=0.00858626;AN=214;NS=2504;DP=18874;EAS_AF=0.002;AMR_AF=0.0259;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0041;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376726021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0347;AF_male=0.0132;AF_female=0.0122;AF_raw=0.0128;AF_afr=0.0043;AF_sas=.;AF_amr=0.0347;AF_eas=0.0026;AF_nfe=0.0197;AF_fin=0.0029;AF_asj=0.0172;AF_oth=0.0102;non_topmed_AF_popmax=0.0338;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376726021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0347;AF_male=0.0132;AF_female=0.0122;AF_raw=0.0128;AF_afr=0.0043;AF_sas=.;AF_amr=0.0347;AF_eas=0.0026;AF_nfe=0.0197;AF_fin=0.0029;AF_asj=0.0172;AF_oth=0.0102;non_topmed_AF_popmax=0.0338;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595589 rs546095518 A T 100 PASS AC=3;AF=0.0205671;AN=214;NS=2504;DP=18897;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0068;EUR_AF=0.0229;SAS_AF=0.047;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546095518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0014;AF_popmax=0.0042;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0042;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0047641;Kaviar_AC=124;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546095518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0014;AF_popmax=0.0042;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0042;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0047641;Kaviar_AC=124;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179596554 rs72648942 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21071;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648942;CLNALLELEID=55786;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.106;SIFT_converted_rankscore=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.39;FATHMM_converted_rankscore=0.692;FATHMM_pred=T;PROVEAN_score=-4.81;PROVEAN_converted_rankscore=0.807;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.607;MetaSVM_score=-0.702;MetaSVM_rankscore=0.604;MetaSVM_pred=T;MetaLR_score=0.233;MetaLR_rankscore=0.599;MetaLR_pred=T;M-CAP_score=0.076;M-CAP_rankscore=0.726;M-CAP_pred=D;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.446;CADD_raw_rankscore=0.018;CADD_phred=0.003;DANN_score=0.352;DANN_rankscore=0.022;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.679;Eigen-PC-raw=-0.580;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.8;GERP++_RS_rankscore=0.427;phyloP100way_vertebrate=5.161;phyloP100way_vertebrate_rankscore=0.646;phyloP20way_mammalian=-0.212;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=10.476;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0088;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0045;AF=0.0043;AF_popmax=0.0066;AF_male=0.0044;AF_female=0.0042;AF_raw=0.0043;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0046;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0069;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0058667;Kaviar_AC=907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.103214;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597242 rs72648940 C A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18933;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon53:c.G12814T:p.D4272Y,TTN:NM_001256850:exon54:c.G15595T:p.D5199Y,TTN:NM_001267550:exon56:c.G16546T:p.D5516Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648940;CLNALLELEID=55783;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_rankscore=0.643;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.955;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.54;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-5.35;PROVEAN_converted_rankscore=0.847;PROVEAN_pred=D;VEST3_score=0.514;VEST3_rankscore=0.568;MetaSVM_score=0.453;MetaSVM_rankscore=0.899;MetaSVM_pred=D;MetaLR_score=0.670;MetaLR_rankscore=0.886;MetaLR_pred=D;M-CAP_score=0.024;M-CAP_rankscore=0.471;M-CAP_pred=T;REVEL_score=0.491;REVEL_rankscore=0.781;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.791;CADD_raw_rankscore=0.276;CADD_phred=14.94;DANN_score=0.899;DANN_rankscore=0.186;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.845;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.891;Eigen-PC-raw=0.848;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=5.989;phyloP100way_vertebrate_rankscore=0.701;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.931;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=6.101e-05;AF=0.0004;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.928142;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597273 rs201625116 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18093;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon53:c.T12783C:p.S4261S,TTN:NM_001256850:exon54:c.T15564C:p.S5188S,TTN:NM_001267550:exon56:c.T16515C:p.S5505S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201625116;CLNALLELEID=195117;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=9.565e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.163806;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597600 rs72648937 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=21767;EAS_AF=0;AMR_AF=0;AFR_AF=0.0053;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon52:c.G12571A:p.V4191M,TTN:NM_001256850:exon53:c.G15352A:p.V5118M,TTN:NM_001267550:exon55:c.G16303A:p.V5435M;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648937;CLNALLELEID=55779;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.222;SIFT_converted_rankscore=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.086;Polyphen2_HDIV_rankscore=0.234;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_rankscore=0.225;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.425;MetaSVM_score=-0.775;MetaSVM_rankscore=0.566;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.130;REVEL_rankscore=0.360;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.783;CADD_raw_rankscore=0.395;CADD_phred=21.3;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.582;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.234;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=4.895;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=15.870;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0052;ExAC_nontcga_AFR=0.0049;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0075;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0031;AF=0.0074;AF_popmax=0.0095;AF_male=0.0078;AF_female=0.0068;AF_raw=0.0074;AF_afr=0.0059;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0055;AF_asj=0.0138;AF_oth=0.0055;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0058214;Kaviar_AC=900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.575959;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179598228 rs12993099 A G 100 PASS AC=26;AF=0.0295527;AN=214;NS=2504;DP=17704;EAS_AF=0;AMR_AF=0.062;AFR_AF=0.0023;EUR_AF=0.0895;SAS_AF=0.0123;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.T12060C:p.I4020I,TTN:NM_001256850:exon52:c.T14841C:p.I4947I,TTN:NM_001267550:exon54:c.T15792C:p.I5264I;1000g2015aug_all=0.0295527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12993099;CLNALLELEID=55772;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0792;ExAC_nontcga_ALL=0.0518;ExAC_nontcga_AFR=0.0101;ExAC_nontcga_AMR=0.0408;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0446;ExAC_nontcga_NFE=0.0788;ExAC_nontcga_OTH=0.0669;ExAC_nontcga_SAS=0.0174;AF=0.0511;AF_popmax=0.0769;AF_male=0.0510;AF_female=0.0512;AF_raw=0.0512;AF_afr=0.0126;AF_sas=.;AF_amr=0.0660;AF_eas=0.0006;AF_nfe=0.0769;AF_fin=0.0458;AF_asj=0.0552;AF_oth=0.0699;non_topmed_AF_popmax=0.0734;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0813;Kaviar_AF=0.0534663;Kaviar_AC=8266;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.551159;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179599355 rs138042430 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20293;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138042430;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0259;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0034799;Kaviar_AC=538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179599473 rs72648929 C G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=20551;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0123;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648929;CLNALLELEID=55764;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.586;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.708;Polyphen2_HDIV_rankscore=0.401;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.387;Polyphen2_HVAR_rankscore=0.423;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.879;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.320;PROVEAN_pred=N;VEST3_score=0.227;VEST3_rankscore=0.298;MetaSVM_score=-0.597;MetaSVM_rankscore=0.649;MetaSVM_pred=T;MetaLR_score=0.234;MetaLR_rankscore=0.601;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.514;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.452;DANN_rankscore=0.035;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.870;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.128;Eigen-PC-raw=0.163;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=6.166;phyloP100way_vertebrate_rankscore=0.715;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.056;phastCons20way_mammalian_rankscore=0.168;SiPhy_29way_logOdds=19.757;SiPhy_29way_logOdds_rankscore=0.963;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0086;AF=0.0020;AF_popmax=0.0038;AF_male=0.0021;AF_female=0.0019;AF_raw=0.0020;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0034864;Kaviar_AC=539;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.148805;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179599667 rs72648927 G C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=18565;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.C11252G:p.P3751R,TTN:NM_001256850:exon49:c.C14033G:p.P4678R,TTN:NM_001267550:exon51:c.C14984G:p.P4995R;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648927;CLNALLELEID=55760;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.332;SIFT_converted_rankscore=0.130;SIFT_pred=T;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_rankscore=0.392;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.335;Polyphen2_HVAR_rankscore=0.405;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=-4.23;PROVEAN_converted_rankscore=0.759;PROVEAN_pred=D;VEST3_score=0.42;VEST3_rankscore=0.477;MetaSVM_score=-1.072;MetaSVM_rankscore=0.089;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_rankscore=0.186;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.674;CADD_raw_rankscore=0.262;CADD_phred=14.26;DANN_score=0.883;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.756;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.346;Eigen-PC-raw=0.490;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=5.768;phyloP100way_vertebrate_rankscore=0.683;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=13.436;SiPhy_29way_logOdds_rankscore=0.604;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0333;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0126;ExAC_nontcga_SAS=0.0059;AF=0.0091;AF_popmax=0.0109;AF_male=0.0091;AF_female=0.0090;AF_raw=0.0091;AF_afr=0.0010;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0256;AF_asj=0.0138;AF_oth=0.0092;non_topmed_AF_popmax=0.0122;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.0072703;Kaviar_AC=1124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.451773;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179600303 rs72648925 G C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18755;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648925;CLNALLELEID=55759;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.845;SIFT_converted_rankscore=0.028;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_rankscore=0.282;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.385;MetaSVM_score=-0.764;MetaSVM_rankscore=0.572;MetaSVM_pred=T;MetaLR_score=0.210;MetaLR_rankscore=0.570;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.460;M-CAP_pred=T;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.289;CADD_raw_rankscore=0.219;CADD_phred=12.21;DANN_score=0.787;DANN_rankscore=0.120;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_rankscore=0.516;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.017;Eigen-PC-raw=0.154;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=2.045;phyloP100way_vertebrate_rankscore=0.406;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=13.953;SiPhy_29way_logOdds_rankscore=0.635;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0.0015;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0028;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0006;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0031436;Kaviar_AC=486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.229185;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179600563 rs2742348 G A 100 PASS AC=214;AF=0.981829;AN=214;NS=2504;DP=21596;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9342;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S;1000g2015aug_all=0.981829;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742348;CLNALLELEID=55755;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9950;ExAC_nontcga_AFR=0.9433;ExAC_nontcga_AMR=0.9974;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9843;AF_popmax=1;AF_male=0.9829;AF_female=0.9861;AF_raw=0.9843;AF_afr=0.9445;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.943662;Kaviar_AC=145892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.791376;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179600648 rs2742347 C T 100 PASS AC=7;AF=0.144768;AN=214;NS=2504;DP=20242;EAS_AF=0.1935;AMR_AF=0.1916;AFR_AF=0.2284;EUR_AF=0.0517;SAS_AF=0.044;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.G10793A:p.R3598K,TTN:NM_001256850:exon48:c.G13574A:p.R4525K,TTN:NM_001267550:exon50:c.G14525A:p.R4842K;1000g2015aug_all=0.144768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742347;CLNALLELEID=55751;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.973;SIFT_converted_rankscore=0.020;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.03;VEST3_rankscore=0.011;MetaSVM_score=-1.067;MetaSVM_rankscore=0.102;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.315;CADD_raw_rankscore=0.124;CADD_phred=5.839;DANN_score=0.620;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_rankscore=0.260;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.369;Eigen-PC-raw=-0.411;GenoCanyon_score=0.805;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.76;GERP++_RS_rankscore=0.237;phyloP100way_vertebrate=0.507;phyloP100way_vertebrate_rankscore=0.222;phyloP20way_mammalian=-0.208;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=9.396;SiPhy_29way_logOdds_rankscore=0.374;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2;GTEx_V6p_tissue=Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0479;ExAC_nontcga_ALL=0.0988;ExAC_nontcga_AFR=0.2142;ExAC_nontcga_AMR=0.2739;ExAC_nontcga_EAS=0.2182;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0667;ExAC_nontcga_SAS=0.0432;AF=0.1084;AF_popmax=0.2203;AF_male=0.1131;AF_female=0.1025;AF_raw=0.1087;AF_afr=0.2203;AF_sas=.;AF_amr=0.2116;AF_eas=0.1865;AF_nfe=0.0466;AF_fin=0.0584;AF_asj=0.0793;AF_oth=0.0656;non_topmed_AF_popmax=0.2210;non_neuro_AF_popmax=0.2312;non_cancer_AF_popmax=.;controls_AF_popmax=0.2239;Kaviar_AF=0.0916288;Kaviar_AC=14166;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004598|hsa-miR-141-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179603837 rs145308122 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18443;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145308122;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0270;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604101 rs55857742 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21471;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G12770A:p.G4257D,TTN:NM_001256850:exon46:c.G12908A:p.G4303D,TTN:NM_133432:exon46:c.G13145A:p.G4382D,TTN:NM_133437:exon46:c.G13346A:p.G4449D,TTN:NM_001267550:exon48:c.G13859A:p.G4620D;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55857742;CLNALLELEID=57005;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_converted_rankscore=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.39;FATHMM_converted_rankscore=0.804;FATHMM_pred=T;PROVEAN_score=-3.42;PROVEAN_converted_rankscore=0.672;PROVEAN_pred=D;VEST3_score=0.274;VEST3_rankscore=0.523;MetaSVM_score=-0.421;MetaSVM_rankscore=0.714;MetaSVM_pred=T;MetaLR_score=0.463;MetaLR_rankscore=0.792;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.404;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.576;CADD_raw_rankscore=0.371;CADD_phred=19.95;DANN_score=0.880;DANN_rankscore=0.171;fathmm-MKL_coding_score=0.833;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.110;Eigen-PC-raw=0.242;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.317;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=2.483;phyloP100way_vertebrate_rankscore=0.446;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.759;phastCons20way_mammalian_rankscore=0.324;SiPhy_29way_logOdds=12.781;SiPhy_29way_logOdds_rankscore=0.567;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0236;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0038033;Kaviar_AC=588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.099094;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604160 rs1883085 T G 100 PASS AC=5;AF=0.076278;AN=214;NS=2504;DP=20847;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.003;EUR_AF=0.0477;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12711C:p.L4237F,TTN:NM_001256850:exon46:c.A12849C:p.L4283F,TTN:NM_133432:exon46:c.A13086C:p.L4362F,TTN:NM_133437:exon46:c.A13287C:p.L4429F,TTN:NM_001267550:exon48:c.A13800C:p.L4600F;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883085;CLNALLELEID=57004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.182;SIFT_converted_rankscore=0.218;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.018;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.298;CADD_raw_rankscore=0.022;CADD_phred=0.005;DANN_score=0.622;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.223;fathmm-MKL_coding_rankscore=0.215;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.273;Eigen-PC-raw=-1.349;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-5.34;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=-0.012;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=-0.220;phyloP20way_mammalian_rankscore=0.097;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.802;SiPhy_29way_logOdds_rankscore=0.282;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0431;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0094;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2177;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0496;AF_female=0.0467;AF_raw=0.0484;AF_afr=0.0129;AF_sas=.;AF_amr=0.1969;AF_eas=0.1860;AF_nfe=0.0439;AF_fin=0.0582;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.067253;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604366 rs2562829 T G 100 PASS AC=5;AF=0.0760783;AN=214;NS=2504;DP=22457;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12505C:p.T4169P,TTN:NM_001256850:exon46:c.A12643C:p.T4215P,TTN:NM_133432:exon46:c.A12880C:p.T4294P,TTN:NM_133437:exon46:c.A13081C:p.T4361P,TTN:NM_001267550:exon48:c.A13594C:p.T4532P;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562829;CLNALLELEID=57002;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.181;SIFT_converted_rankscore=0.219;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.24;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.232;MetaSVM_score=-1.067;MetaSVM_rankscore=0.101;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.128;REVEL_rankscore=0.356;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.781;CADD_raw_rankscore=0.041;CADD_phred=0.047;DANN_score=0.623;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.247;fathmm-MKL_coding_rankscore=0.223;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.262;Eigen-PC-raw=-1.268;GenoCanyon_score=0.933;GenoCanyon_score_rankscore=0.271;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-3.84;GERP++_RS_rankscore=0.040;phyloP100way_vertebrate=0.144;phyloP100way_vertebrate_rankscore=0.158;phyloP20way_mammalian=-1.297;phyloP20way_mammalian_rankscore=0.014;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=10.651;SiPhy_29way_logOdds_rankscore=0.446;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0435;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2177;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0466;AF_raw=0.0483;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1864;AF_nfe=0.0438;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1864;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0690547;Kaviar_AC=10676;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.400124;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604440 rs191968963 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22227;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T12431C:p.M4144T,TTN:NM_001256850:exon46:c.T12569C:p.M4190T,TTN:NM_133432:exon46:c.T12806C:p.M4269T,TTN:NM_133437:exon46:c.T13007C:p.M4336T,TTN:NM_001267550:exon48:c.T13520C:p.M4507T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191968963;CLNALLELEID=173399;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.426;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.19;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.240;PROVEAN_pred=N;VEST3_score=0.099;VEST3_rankscore=0.149;MetaSVM_score=-0.954;MetaSVM_rankscore=0.404;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_rankscore=0.383;MetaLR_pred=T;M-CAP_score=0.029;M-CAP_rankscore=0.517;M-CAP_pred=D;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.764;CADD_raw_rankscore=0.012;CADD_phred=0.002;DANN_score=0.554;DANN_rankscore=0.052;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_rankscore=0.125;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.358;Eigen-PC-raw=-1.441;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-5.39;GERP++_RS_rankscore=0.024;phyloP100way_vertebrate=-0.873;phyloP100way_vertebrate_rankscore=0.043;phyloP20way_mammalian=-0.677;phyloP20way_mammalian_rankscore=0.039;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=1.424;SiPhy_29way_logOdds_rankscore=0.022;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.203e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.247544;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604742 rs1883084 G A 100 PASS AC=5;AF=0.0766773;AN=214;NS=2504;DP=18861;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0045;EUR_AF=0.0477;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12129T:p.A4043A,TTN:NM_001256850:exon46:c.C12267T:p.A4089A,TTN:NM_133432:exon46:c.C12504T:p.A4168A,TTN:NM_133437:exon46:c.C12705T:p.A4235A,TTN:NM_001267550:exon48:c.C13218T:p.A4406A;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883084;CLNALLELEID=57000;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0753;ExAC_nontcga_AFR=0.0114;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2174;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0491;AF_popmax=0.1969;AF_male=0.0507;AF_female=0.0472;AF_raw=0.0492;AF_afr=0.0157;AF_sas=.;AF_amr=0.1969;AF_eas=0.1858;AF_nfe=0.0439;AF_fin=0.0582;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1858;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0696433;Kaviar_AC=10767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.496540;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604871 rs555324138 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19790;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12000T:p.P4000P,TTN:NM_001256850:exon46:c.C12138T:p.P4046P,TTN:NM_133432:exon46:c.C12375T:p.P4125P,TTN:NM_133437:exon46:c.C12576T:p.P4192P,TTN:NM_001267550:exon48:c.C13089T:p.P4363P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555324138;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.849e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.186491;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605180 rs746578 C A,T 100 PASS AC=5,39;AF=0.0760783,0.238818;AN=214;NS=2504;DP=20859;EAS_AF=0.1935,0.4702;AMR_AF=0.17,0.1585;AFR_AF=0.0023,0.1846;EUR_AF=0.0477,0.1382;SAS_AF=0.0174,0.2342;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691T:p.A3897A,TTN:NM_001256850:exon46:c.G11829T:p.A3943A,TTN:NM_133432:exon46:c.G12066T:p.A4022A,TTN:NM_133437:exon46:c.G12267T:p.A4089A,TTN:NM_001267550:exon48:c.G12780T:p.A4260A;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746578;CLNALLELEID=56995;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0748;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2617;ExAC_nontcga_EAS=0.2173;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0457;ExAC_nontcga_OTH=0.0525;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0466;AF_raw=0.0484;AF_afr=0.0125;AF_sas=.;AF_amr=0.1969;AF_eas=0.1860;AF_nfe=0.0441;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0498;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0669526;Kaviar_AC=10351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691A:p.A3897A,TTN:NM_001256850:exon46:c.G11829A:p.A3943A,TTN:NM_133432:exon46:c.G12066A:p.A4022A,TTN:NM_133437:exon46:c.G12267A:p.A4089A,TTN:NM_001267550:exon48:c.G12780A:p.A4260A;1000g2015aug_all=0.238818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746578;CLNALLELEID=56994;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1283;ExAC_nontcga_ALL=0.1673;ExAC_nontcga_AFR=0.1613;ExAC_nontcga_AMR=0.1413;ExAC_nontcga_EAS=0.4573;ExAC_nontcga_FIN=0.0926;ExAC_nontcga_NFE=0.1289;ExAC_nontcga_OTH=0.1327;ExAC_nontcga_SAS=0.2107;AF=0.1500;AF_popmax=0.4599;AF_male=0.1538;AF_female=0.1453;AF_raw=0.1501;AF_afr=0.1586;AF_sas=.;AF_amr=0.1557;AF_eas=0.4599;AF_nfe=0.1308;AF_fin=0.0846;AF_asj=0.0897;AF_oth=0.1319;non_topmed_AF_popmax=0.4570;non_neuro_AF_popmax=0.4599;non_cancer_AF_popmax=.;controls_AF_popmax=0.4726;Kaviar_AF=0.158594;Kaviar_AC=24519;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.136929::0.226708;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 2|0 0|2 0|0 2|0 0|0 2|0 0|0 0|0 0|0 0|0 0|1 0|0 0|2 2|0 0|2 0|0 2|0 0|0 0|0 0|2 2|0 0|0 0|2 0|0 0|0 0|0 2|0 0|0 0|0 0|2 0|0 2|0 0|0 0|0 2|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 1|2 0|0 0|0 0|2 0|2 0|0 0|2 0|0 2|0 2|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|1 0|0 2|0 0|0 0|2 0|1 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 2|2 1|0 2|2 0|0 0|0 0|0 2|0 0|0 0|0 0|0 2|2 0|2 0|0 0|0 0|0 2|0 0|0 0|0 0|0 +2 179605380 rs34618570 T A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=21703;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11491T:p.I3831F,TTN:NM_001256850:exon46:c.A11629T:p.I3877F,TTN:NM_133432:exon46:c.A11866T:p.I3956F,TTN:NM_133437:exon46:c.A12067T:p.I4023F,TTN:NM_001267550:exon48:c.A12580T:p.I4194F;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34618570;CLNALLELEID=56990;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.154;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.611;MutationTaster_converted_rankscore=0.326;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.23;FATHMM_converted_rankscore=0.622;FATHMM_pred=T;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.155;MetaSVM_score=-1.000;MetaSVM_rankscore=0.299;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.329;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.005;CADD_raw_rankscore=0.093;CADD_phred=2.540;DANN_score=0.616;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.856;fathmm-MKL_coding_rankscore=0.444;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.829;Eigen-PC-raw=-0.773;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.321;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.68;GERP++_RS_rankscore=0.307;phyloP100way_vertebrate=2.312;phyloP100way_vertebrate_rankscore=0.431;phyloP20way_mammalian=-0.330;phyloP20way_mammalian_rankscore=0.074;phastCons100way_vertebrate=0.812;phastCons100way_vertebrate_rankscore=0.296;phastCons20way_mammalian=0.011;phastCons20way_mammalian_rankscore=0.114;SiPhy_29way_logOdds=8.187;SiPhy_29way_logOdds_rankscore=0.303;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0043;AF=0.0054;AF_popmax=0.0046;AF_male=0.0060;AF_female=0.0045;AF_raw=0.0053;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0046;AF_fin=0.0242;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0052975;Kaviar_AC=819;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605705 rs2742357 A G 100 PASS AC=5;AF=0.0760783;AN=214;NS=2504;DP=21973;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T11166C:p.I3722I,TTN:NM_001256850:exon46:c.T11304C:p.I3768I,TTN:NM_133432:exon46:c.T11541C:p.I3847I,TTN:NM_133437:exon46:c.T11742C:p.I3914I,TTN:NM_001267550:exon48:c.T12255C:p.I4085I;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742357;CLNALLELEID=56988;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2628;ExAC_nontcga_EAS=0.2180;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0189;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0465;AF_raw=0.0484;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1852;AF_nfe=0.0440;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1852;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0694299;Kaviar_AC=10734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605725 rs34070843 T C 100 PASS AC=9;AF=0.0161741;AN=214;NS=2504;DP=21621;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.0409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11146G:p.I3716V,TTN:NM_001256850:exon46:c.A11284G:p.I3762V,TTN:NM_133432:exon46:c.A11521G:p.I3841V,TTN:NM_133437:exon46:c.A11722G:p.I3908V,TTN:NM_001267550:exon48:c.A12235G:p.I4079V;1000g2015aug_all=0.0161741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34070843;CLNALLELEID=56987;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_converted_rankscore=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.491;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.23;FATHMM_converted_rankscore=0.631;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.110;PROVEAN_pred=N;VEST3_score=0.069;VEST3_rankscore=0.126;MetaSVM_score=-1.022;MetaSVM_rankscore=0.230;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_rankscore=0.240;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.264;CADD_raw_rankscore=0.023;CADD_phred=0.005;DANN_score=0.503;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.138;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.165;Eigen-PC-raw=-1.201;GenoCanyon_score=0.787;GenoCanyon_score_rankscore=0.239;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-1.66;GERP++_RS_rankscore=0.078;phyloP100way_vertebrate=0.332;phyloP100way_vertebrate_rankscore=0.194;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=0.350;phastCons100way_vertebrate_rankscore=0.255;phastCons20way_mammalian=0.206;phastCons20way_mammalian_rankscore=0.219;SiPhy_29way_logOdds=5.807;SiPhy_29way_logOdds_rankscore=0.176;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0180;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0182;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0417;AF=0.0102;AF_popmax=0.0170;AF_male=0.0108;AF_female=0.0095;AF_raw=0.0102;AF_afr=0.0026;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0170;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605755 rs565276088 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20881;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C11116G:p.Q3706E,TTN:NM_001256850:exon46:c.C11254G:p.Q3752E,TTN:NM_133432:exon46:c.C11491G:p.Q3831E,TTN:NM_133437:exon46:c.C11692G:p.Q3898E,TTN:NM_001267550:exon48:c.C12205G:p.Q4069E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565276088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.488;SIFT_converted_rankscore=0.080;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.31;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.293;VEST3_rankscore=0.353;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.482;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.325;M-CAP_pred=T;REVEL_score=0.065;REVEL_rankscore=0.193;MutPred_score=0.258;MutPred_rankscore=0.201;CADD_raw=0.306;CADD_raw_rankscore=0.123;CADD_phred=5.751;DANN_score=0.694;DANN_rankscore=0.087;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.555;Eigen-PC-raw=-0.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=2.793;phyloP100way_vertebrate_rankscore=0.473;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.735;phastCons100way_vertebrate_rankscore=0.287;phastCons20way_mammalian=0.932;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=14.815;SiPhy_29way_logOdds_rankscore=0.695;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605991 rs33971253 G A 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=20670;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10880T:p.P3627L,TTN:NM_001256850:exon46:c.C11018T:p.P3673L,TTN:NM_133432:exon46:c.C11255T:p.P3752L,TTN:NM_133437:exon46:c.C11456T:p.P3819L,TTN:NM_001267550:exon48:c.C11969T:p.P3990L;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33971253;CLNALLELEID=56978;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.264;SIFT_converted_rankscore=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.338;Polyphen2_HDIV_rankscore=0.316;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_rankscore=0.395;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.98;FATHMM_converted_rankscore=0.421;FATHMM_pred=T;PROVEAN_score=-4.45;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.27;VEST3_rankscore=0.328;MetaSVM_score=-0.904;MetaSVM_rankscore=0.475;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.346;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.510;CADD_raw_rankscore=0.244;CADD_phred=13.37;DANN_score=0.711;DANN_rankscore=0.092;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.283;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=5.186;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.465;phastCons20way_mammalian_rankscore=0.265;SiPhy_29way_logOdds=15.318;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0057;AF_popmax=0.0089;AF_male=0.0062;AF_female=0.0050;AF_raw=0.0057;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.007432;Kaviar_AC=1149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.507677;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179606172 rs186624523 C T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21161;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G10699A:p.E3567K,TTN:NM_001256850:exon46:c.G10837A:p.E3613K,TTN:NM_133432:exon46:c.G11074A:p.E3692K,TTN:NM_133437:exon46:c.G11275A:p.E3759K,TTN:NM_001267550:exon48:c.G11788A:p.E3930K;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186624523;CLNALLELEID=173267;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.308;SIFT_converted_rankscore=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-1.55;PROVEAN_converted_rankscore=0.377;PROVEAN_pred=N;VEST3_score=0.221;VEST3_rankscore=0.271;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.429;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.322;M-CAP_pred=T;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.926;CADD_raw_rankscore=0.182;CADD_phred=10.23;DANN_score=0.573;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.380;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.789;Eigen-PC-raw=-0.800;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.306;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.02;GERP++_RS_rankscore=0.338;phyloP100way_vertebrate=1.845;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.070;phyloP20way_mammalian_rankscore=0.177;phastCons100way_vertebrate=0.915;phastCons100way_vertebrate_rankscore=0.316;phastCons20way_mammalian=0.428;phastCons20way_mammalian_rankscore=0.259;SiPhy_29way_logOdds=5.588;SiPhy_29way_logOdds_rankscore=0.165;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179606538 rs2627037 G A 100 PASS AC=12;AF=0.273163;AN=214;NS=2504;DP=14879;EAS_AF=0.2133;AMR_AF=0.3602;AFR_AF=0.4531;EUR_AF=0.0875;SAS_AF=0.2209;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10333T:p.P3445S,TTN:NM_001256850:exon46:c.C10471T:p.P3491S,TTN:NM_133432:exon46:c.C10708T:p.P3570S,TTN:NM_133437:exon46:c.C10909T:p.P3637S,TTN:NM_001267550:exon48:c.C11422T:p.P3808S;1000g2015aug_all=0.273163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627037;CLNALLELEID=56971;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.757;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.958;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.47;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=1.53;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.976;MetaSVM_rankscore=0.360;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.979;CADD_raw_rankscore=0.299;CADD_phred=16.08;DANN_score=0.947;DANN_rankscore=0.248;fathmm-MKL_coding_score=0.153;fathmm-MKL_coding_rankscore=0.186;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.438;Eigen-PC-raw=-0.159;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=4.366;phyloP100way_vertebrate_rankscore=0.590;phyloP20way_mammalian=0.202;phyloP20way_mammalian_rankscore=0.252;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.459;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=12.404;SiPhy_29way_logOdds_rankscore=0.546;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0732;ExAC_nontcga_ALL=0.1970;ExAC_nontcga_AFR=0.4370;ExAC_nontcga_AMR=0.4918;ExAC_nontcga_EAS=0.2582;ExAC_nontcga_FIN=0.1214;ExAC_nontcga_NFE=0.0859;ExAC_nontcga_OTH=0.1725;ExAC_nontcga_SAS=0.2241;AF=0.1897;AF_popmax=0.4183;AF_male=0.1943;AF_female=0.1840;AF_raw=0.1897;AF_afr=0.4183;AF_sas=.;AF_amr=0.3872;AF_eas=0.2170;AF_nfe=0.0716;AF_fin=0.1125;AF_asj=0.1069;AF_oth=0.1165;non_topmed_AF_popmax=0.4186;non_neuro_AF_popmax=0.4312;non_cancer_AF_popmax=.;controls_AF_popmax=0.4306;Kaviar_AF=0.165819;Kaviar_AC=25636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.604801;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179606590 rs72648918 T C 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=14760;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A10281G:p.Q3427Q,TTN:NM_001256850:exon46:c.A10419G:p.Q3473Q,TTN:NM_133432:exon46:c.A10656G:p.Q3552Q,TTN:NM_133437:exon46:c.A10857G:p.Q3619Q,TTN:NM_001267550:exon48:c.A11370G:p.Q3790Q;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648918;CLNALLELEID=141537;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179610967 rs72648913 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19543;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G16160A:p.C5387Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648913;CLNALLELEID=56959;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.039;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.222;Polyphen2_HDIV_rankscore=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.08;Polyphen2_HVAR_rankscore=0.274;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.661;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.329;VEST3_rankscore=0.390;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.163;MetaLR_rankscore=0.500;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.301;M-CAP_pred=T;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.745;CADD_raw_rankscore=0.271;CADD_phred=14.66;DANN_score=0.977;DANN_rankscore=0.350;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.044;Eigen-PC-raw=0.240;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=1.732;phyloP100way_vertebrate_rankscore=0.375;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.985;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0029;AF_popmax=0.0043;AF_male=0.0024;AF_female=0.0035;AF_raw=0.0029;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0043;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0028266;Kaviar_AC=437;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.131287;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611279 rs572156117 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19734;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C15848T:p.P5283L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572156117;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.31;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.126;MetaSVM_score=-0.456;MetaSVM_rankscore=0.702;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_rankscore=0.709;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.233;M-CAP_pred=T;REVEL_score=0.280;REVEL_rankscore=0.602;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=1.499;CADD_raw_rankscore=0.242;CADD_phred=13.31;DANN_score=0.997;DANN_rankscore=0.805;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.774;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.587;Eigen-PC-raw=0.550;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=6.874;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.716;phastCons20way_mammalian_rankscore=0.313;SiPhy_29way_logOdds=14.591;SiPhy_29way_logOdds_rankscore=0.678;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.401742;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611552 rs62179016 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20489;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15575A:p.R5192K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62179016;CLNALLELEID=173275;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.945;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.399;Polyphen2_HDIV_rankscore=0.330;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.399;Polyphen2_HVAR_rankscore=0.427;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=0.43;PROVEAN_converted_rankscore=0.033;PROVEAN_pred=N;VEST3_score=0.284;VEST3_rankscore=0.343;MetaSVM_score=-0.691;MetaSVM_rankscore=0.609;MetaSVM_pred=T;MetaLR_score=0.306;MetaLR_rankscore=0.677;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.429;M-CAP_pred=T;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.711;CADD_raw_rankscore=0.267;CADD_phred=14.47;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.373;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=2.774;phyloP100way_vertebrate_rankscore=0.471;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.887;phastCons20way_mammalian_rankscore=0.373;SiPhy_29way_logOdds=20.385;SiPhy_29way_logOdds_rankscore=0.989;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0036;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.492367;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611711 rs66677602 C A 100 PASS AC=5;AF=0.0772764;AN=214;NS=2504;DP=19447;EAS_AF=0.1994;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15416T:p.R5139M;1000g2015aug_all=0.0772764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66677602;CLNALLELEID=56950;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.847;Polyphen2_HVAR_rankscore=0.587;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.55;FATHMM_converted_rankscore=0.711;FATHMM_pred=T;PROVEAN_score=1.14;PROVEAN_converted_rankscore=0.012;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.089;MetaSVM_score=-1.047;MetaSVM_rankscore=0.153;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.758;CADD_raw_rankscore=0.166;CADD_phred=9.203;DANN_score=0.953;DANN_rankscore=0.260;fathmm-MKL_coding_score=0.178;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.006;Eigen-PC-raw=-0.024;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.441;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=0.758;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.132;phastCons100way_vertebrate_rankscore=0.232;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=9.092;SiPhy_29way_logOdds_rankscore=0.356;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0755;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.2630;ExAC_nontcga_EAS=0.2272;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0190;AF=0.0489;AF_popmax=0.1983;AF_male=0.0505;AF_female=0.0470;AF_raw=0.0489;AF_afr=0.0126;AF_sas=.;AF_amr=0.1974;AF_eas=0.1983;AF_nfe=0.0440;AF_fin=0.0579;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.2007;non_neuro_AF_popmax=0.1983;non_cancer_AF_popmax=.;controls_AF_popmax=0.2066;Kaviar_AF=0.0696757;Kaviar_AC=10772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.067797;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611847 rs141105907 T G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15680;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A15280C:p.R5094R;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141105907;CLNALLELEID=365885;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.063e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.288260;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611851 rs72648910 C T 100 PASS AC=1;AF=0.0399361;AN=214;NS=2504;DP=15008;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.1407;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15276A:p.L5092L;1000g2015aug_all=0.0399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648910;CLNALLELEID=56946;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0774;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=6.221e-05;AF=0.0342;AF_popmax=0.1175;AF_male=0.0343;AF_female=0.0340;AF_raw=0.0290;AF_afr=0.1175;AF_sas=.;AF_amr=0.0041;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0090;non_topmed_AF_popmax=0.1176;non_neuro_AF_popmax=0.1308;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0021798;Kaviar_AC=337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.714041;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611875 rs61233923 A G 100 PASS AC=1;AF=0.0397364;AN=214;NS=2504;DP=14705;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1407;EUR_AF=0.003;SAS_AF=0.001;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T15252C:p.Y5084Y;1000g2015aug_all=0.0397364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61233923;CLNALLELEID=56945;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0461;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0323;AF_popmax=0.1143;AF_male=0.0327;AF_female=0.0318;AF_raw=0.0272;AF_afr=0.1143;AF_sas=.;AF_amr=0.0040;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0066;non_topmed_AF_popmax=0.1141;non_neuro_AF_popmax=0.1283;non_cancer_AF_popmax=.;controls_AF_popmax=0.1226;Kaviar_AF=0.001727;Kaviar_AC=267;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.259929;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612373 rs72648908 A C 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=20169;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0256;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14754G:p.P4918P;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648908;CLNALLELEID=56940;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0233;AF=0.0014;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0010;AF_raw=0.0014;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0049353;Kaviar_AC=763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.505474;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612383 rs72648907 C T 100 PASS AC=17;AF=0.0145767;AN=214;NS=2504;DP=20289;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0023;EUR_AF=0.0517;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14744A:p.R4915H;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648907;CLNALLELEID=56939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.422;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_converted_rankscore=0.085;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.000;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.021;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.322;CADD_raw_rankscore=0.223;CADD_phred=12.38;DANN_score=0.625;DANN_rankscore=0.068;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.004;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.189;Eigen-PC-raw=-1.071;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.338;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=1.169;phyloP100way_vertebrate_rankscore=0.313;phyloP20way_mammalian=-0.239;phyloP20way_mammalian_rankscore=0.092;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.011;phastCons20way_mammalian_rankscore=0.114;SiPhy_29way_logOdds=6.346;SiPhy_29way_logOdds_rankscore=0.204;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0582;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0112;ExAC_nontcga_AMR=0.0165;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0352;ExAC_nontcga_NFE=0.0562;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0020;AF=0.0345;AF_popmax=0.0498;AF_male=0.0330;AF_female=0.0362;AF_raw=0.0345;AF_afr=0.0108;AF_sas=.;AF_amr=0.0308;AF_eas=0;AF_nfe=0.0498;AF_fin=0.0409;AF_asj=0.0207;AF_oth=0.0415;non_topmed_AF_popmax=0.0474;non_neuro_AF_popmax=0.0492;non_cancer_AF_popmax=.;controls_AF_popmax=0.0406;Kaviar_AF=0.0379943;Kaviar_AC=5874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.567117;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179612511 rs148105798 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22972;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C14616T:p.S4872S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148105798;CLNALLELEID=199634;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=7.189e-05;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003363;Kaviar_AC=52;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612635 rs150615457 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20091;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14492A:p.C4831Y;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150615457;CLNALLELEID=56937;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.164;SIFT_converted_rankscore=0.233;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.49;FATHMM_converted_rankscore=0.558;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.085;VEST3_rankscore=0.080;MetaSVM_score=-1.040;MetaSVM_rankscore=0.174;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_rankscore=0.237;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.214;CADD_raw_rankscore=0.114;CADD_phred=4.824;DANN_score=0.470;DANN_rankscore=0.038;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_rankscore=0.120;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.202;Eigen-PC-raw=-1.164;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=-0.046;GERP++_RS_rankscore=0.131;phyloP100way_vertebrate=0.703;phyloP100way_vertebrate_rankscore=0.251;phyloP20way_mammalian=-0.506;phyloP20way_mammalian_rankscore=0.051;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=4.639;SiPhy_29way_logOdds_rankscore=0.118;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0235;AF=0.0011;AF_popmax=0.0018;AF_male=0.0010;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.004075;Kaviar_AC=630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001041498|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612883 rs139669372 A G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=20379;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14244C:p.L4748L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139669372;CLNALLELEID=56933;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0076;AF_popmax=0.0108;AF_male=0.0076;AF_female=0.0077;AF_raw=0.0076;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0098;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179613049 rs139486133 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14078C:p.I4693T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139486133;CLNALLELEID=173282;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.273;SIFT_converted_rankscore=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.17;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-1.055;MetaSVM_rankscore=0.131;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_rankscore=0.281;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.182;M-CAP_pred=T;REVEL_score=0.053;REVEL_rankscore=0.154;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.341;CADD_raw_rankscore=0.127;CADD_phred=6.086;DANN_score=0.842;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.165;Eigen-PC-raw=-1.174;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-1.73;GERP++_RS_rankscore=0.076;phyloP100way_vertebrate=-0.027;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=1.006;phyloP20way_mammalian_rankscore=0.624;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.083;phastCons20way_mammalian_rankscore=0.182;SiPhy_29way_logOdds=1.357;SiPhy_29way_logOdds_rankscore=0.020;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=9.038e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005239;Kaviar_AC=81;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179613191 rs140909116 T C 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=18209;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13936G:p.K4646E;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140909116;CLNALLELEID=56928;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.261;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.312;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.193;MetaSVM_score=-1.008;MetaSVM_rankscore=0.277;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.362;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.041;CADD_raw_rankscore=0.098;CADD_phred=2.993;DANN_score=0.553;DANN_rankscore=0.052;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_rankscore=0.125;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.214;Eigen-PC-raw=-1.262;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.52;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=-0.106;phyloP100way_vertebrate_rankscore=0.108;phyloP20way_mammalian=-0.303;phyloP20way_mammalian_rankscore=0.080;phastCons100way_vertebrate=0.036;phastCons100way_vertebrate_rankscore=0.206;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=6.312;SiPhy_29way_logOdds_rankscore=0.202;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0111;AF=0.0045;AF_popmax=0.0107;AF_male=0.0042;AF_female=0.0049;AF_raw=0.0045;AF_afr=0.0006;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0012;AF_asj=0.0379;AF_oth=0.0064;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0076196;Kaviar_AC=1178;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179613651 rs72648904 G A 100 PASS AC=7;AF=0.0109824;AN=214;NS=2504;DP=19218;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.0133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13476T:p.D4492D;1000g2015aug_all=0.0109824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648904;CLNALLELEID=56920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0356;ExAC_nontcga_ALL=0.0204;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0311;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0105;AF=0.0211;AF_popmax=0.0299;AF_male=0.0213;AF_female=0.0207;AF_raw=0.0211;AF_afr=0.0069;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0299;AF_fin=0.0328;AF_asj=0.0103;AF_oth=0.0129;non_topmed_AF_popmax=0.0262;non_neuro_AF_popmax=0.0302;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0222248;Kaviar_AC=3436;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179613763 rs142304137 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18561;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13364G:p.K4455R;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142304137;CLNALLELEID=56917;CLNDN=Syncope|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.873;Polyphen2_HDIV_rankscore=0.460;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.439;Polyphen2_HVAR_rankscore=0.439;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.29;FATHMM_converted_rankscore=0.589;FATHMM_pred=T;PROVEAN_score=-1.06;PROVEAN_converted_rankscore=0.277;PROVEAN_pred=N;VEST3_score=0.172;VEST3_rankscore=0.208;MetaSVM_score=-0.989;MetaSVM_rankscore=0.329;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.434;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.269;M-CAP_pred=T;REVEL_score=0.117;REVEL_rankscore=0.332;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.715;CADD_raw_rankscore=0.162;CADD_phred=8.924;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.708;fathmm-MKL_coding_rankscore=0.345;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=-0.000;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=0.379;phyloP100way_vertebrate_rankscore=0.202;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.059;phastCons100way_vertebrate_rankscore=0.215;phastCons20way_mammalian=0.890;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=11.198;SiPhy_29way_logOdds_rankscore=0.478;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=7.201e-05;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179614952 rs10803917 A G 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=21691;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T12175C:p.L4059L;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10803917;CLNALLELEID=56907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9928;ExAC_nontcga_AFR=0.9218;ExAC_nontcga_AMR=0.9969;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9762;AF_popmax=1;AF_male=0.9764;AF_female=0.9759;AF_raw=0.9761;AF_afr=0.9152;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.979502;Kaviar_AC=151433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615318 rs562658562 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11809C:p.K3937Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562658562;CLNALLELEID=173431;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.354;SIFT_converted_rankscore=0.121;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.27;FATHMM_converted_rankscore=0.592;FATHMM_pred=T;PROVEAN_score=-0.55;PROVEAN_converted_rankscore=0.168;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.021;MetaSVM_score=-1.010;MetaSVM_rankscore=0.270;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_rankscore=0.398;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.307;M-CAP_pred=T;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.356;CADD_raw_rankscore=0.128;CADD_phred=6.220;DANN_score=0.889;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.135;fathmm-MKL_coding_rankscore=0.177;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.851;Eigen-PC-raw=-0.814;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=1.150;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.003;phastCons100way_vertebrate_rankscore=0.159;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=6.816;SiPhy_29way_logOdds_rankscore=0.229;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179615321 rs147087155 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C11806A:p.R3936R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147087155;CLNALLELEID=366162;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=6.386e-05;AF_popmax=0.0001;AF_male=5.737e-05;AF_female=7.199e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.055e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179615887 rs922984 T C 100 PASS AC=202;AF=0.733027;AN=214;NS=2504;DP=20549;EAS_AF=0.7758;AMR_AF=0.6412;AFR_AF=0.5749;EUR_AF=0.9135;SAS_AF=0.7822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11240G:p.D3747G;1000g2015aug_all=0.733027;GWAS=rs922984|PR-interval|1.5|2E-11|PMID:30046033;ORegAnno_REGULATORY_P=rs922984|PR-interval|1.5|2E-11|PMID:30046033;avsnp150=rs922984;CLNALLELEID=56900;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.197;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.36;FATHMM_converted_rankscore=0.579;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.001;MetaSVM_score=-0.941;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.106;REVEL_rankscore=0.306;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.654;CADD_raw_rankscore=0.156;CADD_phred=8.526;DANN_score=0.992;DANN_rankscore=0.561;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_rankscore=0.182;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.652;Eigen-PC-raw=-0.507;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.54;GERP++_RS_rankscore=0.551;phyloP100way_vertebrate=1.572;phyloP100way_vertebrate_rankscore=0.358;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.011;phastCons100way_vertebrate_rankscore=0.184;phastCons20way_mammalian=0.091;phastCons20way_mammalian_rankscore=0.185;SiPhy_29way_logOdds=5.885;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9303;ExAC_nontcga_ALL=0.8194;ExAC_nontcga_AFR=0.6006;ExAC_nontcga_AMR=0.5331;ExAC_nontcga_EAS=0.7486;ExAC_nontcga_FIN=0.8854;ExAC_nontcga_NFE=0.9248;ExAC_nontcga_OTH=0.8439;ExAC_nontcga_SAS=0.7900;AF=0.8174;AF_popmax=0.9310;AF_male=0.8136;AF_female=0.8223;AF_raw=0.8170;AF_afr=0.6042;AF_sas=.;AF_amr=0.6149;AF_eas=0.7717;AF_nfe=0.9310;AF_fin=0.8891;AF_asj=0.9;AF_oth=0.8849;non_topmed_AF_popmax=0.9315;non_neuro_AF_popmax=0.9300;non_cancer_AF_popmax=.;controls_AF_popmax=0.9313;Kaviar_AF=0.828586;Kaviar_AC=128101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615931 rs922985 C G 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=20686;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G11196C:p.L3732F;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs922985;CLNALLELEID=56899;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.103;SIFT_converted_rankscore=0.301;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.201;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_converted_rankscore=0.088;PROVEAN_pred=N;VEST3_score=0.008;VEST3_rankscore=0.000;MetaSVM_score=-0.973;MetaSVM_rankscore=0.365;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.136;REVEL_rankscore=0.373;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.163;CADD_raw_rankscore=0.109;CADD_phred=4.287;DANN_score=0.961;DANN_rankscore=0.280;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_rankscore=0.146;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.628;Eigen-PC-raw=-0.536;GenoCanyon_score=0.969;GenoCanyon_score_rankscore=0.291;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.9;GERP++_RS_rankscore=0.441;phyloP100way_vertebrate=-0.174;phyloP100way_vertebrate_rankscore=0.097;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.322;phastCons20way_mammalian_rankscore=0.241;SiPhy_29way_logOdds=5.488;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9928;ExAC_nontcga_AFR=0.9213;ExAC_nontcga_AMR=0.9970;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9765;AF_popmax=1;AF_male=0.9766;AF_female=0.9763;AF_raw=0.9762;AF_afr=0.9162;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971107;Kaviar_AC=150135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615994 rs922986 T C 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=20805;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11133G:p.T3711T;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs922986;CLNALLELEID=56897;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9927;ExAC_nontcga_AFR=0.9216;ExAC_nontcga_AMR=0.9969;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9997;AF=0.9763;AF_popmax=1;AF_male=0.9764;AF_female=0.9761;AF_raw=0.9761;AF_afr=0.9156;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.979276;Kaviar_AC=151398;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179616210 rs140804168 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19668;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C10917T:p.G3639G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140804168;CLNALLELEID=56894;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0059;AF_male=0.0015;AF_female=0.0009;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.129566;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179616481 rs148115514 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18200;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G10646A:p.R3549H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148115514;CLNALLELEID=189730;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.949;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.68;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=-0.48;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.198;VEST3_rankscore=0.243;MetaSVM_score=-0.557;MetaSVM_rankscore=0.665;MetaSVM_pred=T;MetaLR_score=0.262;MetaLR_rankscore=0.633;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.324;CADD_raw_rankscore=0.223;CADD_phred=12.39;DANN_score=0.994;DANN_rankscore=0.630;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.441;Eigen-PC-raw=0.415;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=5.006;phyloP100way_vertebrate_rankscore=0.635;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=14.928;SiPhy_29way_logOdds_rankscore=0.704;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.623886;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179616770 rs573226765;rs577374633;rs568449108;rs566021659 GAAA GAAAA,GAA,GA,G 100 PASS AC=1,109,27,1;AF=0.0109824,0.526158,0.120008,0.00179712;AN=214;NS=2504;DP=18866;EAS_AF=0,0.5823,0.122,0.001;AMR_AF=0.0101,0.4942,0.1196,0.0029;AFR_AF=0.031,0.5295,0.0817,0;EUR_AF=0.003,0.5258,0.1372,0.001;SAS_AF=0.0041,0.4867,0.1524,0.0051;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566021659;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0.0014;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0032;ExAC_nontcga_SAS=0.0029;AF=0.0001;AF_popmax=0.0002;AF_male=7.293e-05;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0.0007;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0003;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|2 0|2 3|2 0|2 2|0 2|0 2|2 2|2 2|2 0|0 2|0 0|2 2|3 3|2 0|2 0|0 2|2 3|0 0|2 2|2 2|3 2|0 2|2 3|0 3|2 2|0 2|0 2|0 2|2 2|0 0|2 3|2 3|0 2|2 0|2 3|2 2|2 2|0 0|2 2|2 0|2 0|2 0|1 2|0 2|2 3|2 2|0 4|3 0|0 3|0 2|3 0|2 0|2 2|0 2|0 0|2 2|0 0|2 2|2 0|2 2|0 2|0 2|0 2|2 2|0 2|0 2|0 2|3 0|2 2|0 0|2 0|2 2|0 2|0 2|2 0|3 2|2 2|3 0|2 0|2 3|0 2|0 2|0 2|0 2|0 3|2 0|2 2|0 2|0 2|0 3|2 3|2 3|2 0|3 2|0 2|3 2|0 2|0 0|2 3|2 0|2 0|2 2|0 2|0 3|0 3|2 0|0 +2 179618019 rs3754953 T A 100 PASS AC=202;AF=0.804513;AN=214;NS=2504;DP=17399;EAS_AF=0.7758;AMR_AF=0.67;AFR_AF=0.8298;EUR_AF=0.9145;SAS_AF=0.7822;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.804513;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3754953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8819;AF_popmax=0.9320;AF_male=0.8811;AF_female=0.8829;AF_raw=0.8817;AF_afr=0.8309;AF_sas=.;AF_amr=0.6348;AF_eas=0.7690;AF_nfe=0.9320;AF_fin=0.8888;AF_asj=0.9172;AF_oth=0.9015;non_topmed_AF_popmax=0.9322;non_neuro_AF_popmax=0.9312;non_cancer_AF_popmax=.;controls_AF_popmax=0.9319;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269466|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179620951 rs7585334 C T 100 PASS AC=202;AF=0.804513;AN=214;NS=2504;DP=23003;EAS_AF=0.7758;AMR_AF=0.67;AFR_AF=0.8298;EUR_AF=0.9145;SAS_AF=0.7822;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D;1000g2015aug_all=0.804513;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7585334;CLNALLELEID=57016;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.551;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.094;VEST3_rankscore=0.112;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.252;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.907;DANN_rankscore=0.193;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.345;Eigen-PC-raw=0.350;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=3.781;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.525;phastCons20way_mammalian_rankscore=0.275;SiPhy_29way_logOdds=13.065;SiPhy_29way_logOdds_rankscore=0.583;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0021;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9321;ExAC_nontcga_ALL=0.8430;ExAC_nontcga_AFR=0.8390;ExAC_nontcga_AMR=0.5461;ExAC_nontcga_EAS=0.7486;ExAC_nontcga_FIN=0.8849;ExAC_nontcga_NFE=0.9269;ExAC_nontcga_OTH=0.8544;ExAC_nontcga_SAS=0.7964;AF=0.8822;AF_popmax=0.9322;AF_male=0.8815;AF_female=0.8830;AF_raw=0.8818;AF_afr=0.8313;AF_sas=.;AF_amr=0.6374;AF_eas=0.7706;AF_nfe=0.9322;AF_fin=0.8881;AF_asj=0.9172;AF_oth=0.9015;non_topmed_AF_popmax=0.9325;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9324;Kaviar_AF=0.845047;Kaviar_AC=130646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.122867;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179621184 rs72955212 G A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=21646;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.C10506T:p.C3502C,TTN:NM_001267550:exon46:c.C11019T:p.C3673C;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72955212;CLNALLELEID=57014;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0146;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0264;ExAC_nontcga_NFE=0.0172;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0012;AF=0.0120;AF_popmax=0.0156;AF_male=0.0108;AF_female=0.0136;AF_raw=0.0120;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0156;AF_fin=0.0265;AF_asj=0.0103;AF_oth=0.0119;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0152;non_cancer_AF_popmax=.;controls_AF_popmax=0.0156;Kaviar_AF=0.0113323;Kaviar_AC=1752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179621477 rs6433728 C T 100 PASS AC=214;AF=0.999002;AN=214;NS=2504;DP=23698;EAS_AF=1;AMR_AF=1;AFR_AF=0.9962;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T;1000g2015aug_all=0.999002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6433728;CLNALLELEID=141535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9997;ExAC_nontcga_AFR=0.9962;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9993;AF_popmax=1;AF_male=0.9992;AF_female=0.9994;AF_raw=0.9993;AF_afr=0.9974;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.937963;Kaviar_AC=145011;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.475236;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179621503 rs72955213 C T 100 PASS AC=6;AF=0.00638978;AN=214;NS=2504;DP=23359;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10187A:p.S3396N,TTN:NM_001267550:exon46:c.G10700A:p.S3567N;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72955213;CLNALLELEID=57010;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.455;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.06;FATHMM_converted_rankscore=0.618;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.016;VEST3_rankscore=0.013;MetaSVM_score=-1.001;MetaSVM_rankscore=0.296;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.260;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.075;REVEL_rankscore=0.224;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.386;CADD_raw_rankscore=0.348;CADD_phred=18.73;DANN_score=0.908;DANN_rankscore=0.194;fathmm-MKL_coding_score=0.829;fathmm-MKL_coding_rankscore=0.418;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.196;Eigen-PC-raw=-0.058;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.349;phyloP100way_vertebrate_rankscore=0.334;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=11.159;SiPhy_29way_logOdds_rankscore=0.475;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0176;ExAC_nontcga_ALL=0.0140;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0284;ExAC_nontcga_NFE=0.0209;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0036;AF=0.0141;AF_popmax=0.0185;AF_male=0.0133;AF_female=0.0151;AF_raw=0.0141;AF_afr=0.0034;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0276;AF_asj=0.0138;AF_oth=0.0165;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0140166;Kaviar_AC=2167;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079130;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179623758 rs2291310 C T 100 PASS AC=202;AF=0.808906;AN=214;NS=2504;DP=22109;EAS_AF=0.7847;AMR_AF=0.67;AFR_AF=0.8389;EUR_AF=0.9145;SAS_AF=0.7832;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N;1000g2015aug_all=0.808906;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291310;CLNALLELEID=55747;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.634;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_converted_rankscore=0.039;PROVEAN_pred=N;VEST3_score=0.014;VEST3_rankscore=0.024;MetaSVM_score=-0.979;MetaSVM_rankscore=0.352;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.814;CADD_raw_rankscore=0.279;CADD_phred=15.07;DANN_score=0.778;DANN_rankscore=0.116;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_rankscore=0.142;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.889;Eigen-PC-raw=-0.929;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.384;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-3.23;GERP++_RS_rankscore=0.048;phyloP100way_vertebrate=0.424;phyloP100way_vertebrate_rankscore=0.209;phyloP20way_mammalian=-0.489;phyloP20way_mammalian_rankscore=0.052;phastCons100way_vertebrate=0.049;phastCons100way_vertebrate_rankscore=0.212;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=7.485;SiPhy_29way_logOdds_rankscore=0.264;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9324;ExAC_nontcga_ALL=0.8434;ExAC_nontcga_AFR=0.8469;ExAC_nontcga_AMR=0.5468;ExAC_nontcga_EAS=0.7595;ExAC_nontcga_FIN=0.8853;ExAC_nontcga_NFE=0.9270;ExAC_nontcga_OTH=0.8530;ExAC_nontcga_SAS=0.7901;AF=0.8854;AF_popmax=0.9321;AF_male=0.8845;AF_female=0.8866;AF_raw=0.8852;AF_afr=0.8409;AF_sas=.;AF_amr=0.6371;AF_eas=0.7815;AF_nfe=0.9321;AF_fin=0.8890;AF_asj=0.9172;AF_oth=0.9017;non_topmed_AF_popmax=0.9325;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9322;Kaviar_AF=0.852447;Kaviar_AC=131790;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.908843;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179623772 rs45447891 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=21609;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.C10104T:p.Y3368Y,TTN:NM_133432:exon43:c.C10104T:p.Y3368Y,TTN:NM_133437:exon43:c.C10104T:p.Y3368Y,TTN:NM_001256850:exon44:c.C10242T:p.Y3414Y,TTN:NM_001267550:exon44:c.C10242T:p.Y3414Y,TTN:NM_133378:exon44:c.C10242T:p.Y3414Y,TTN:NM_133379:exon44:c.C10242T:p.Y3414Y;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45447891;CLNALLELEID=55746;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0021;AF=0.0047;AF_popmax=0.0071;AF_male=0.0047;AF_female=0.0047;AF_raw=0.0047;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0055;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.267224;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179623939 rs6705594 T C 100 PASS AC=214;AF=0.998403;AN=214;NS=2504;DP=21349;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.9962;EUR_AF=1;SAS_AF=0.998;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6705594;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9996;ExAC_nontcga_AFR=0.9962;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9996;AF=0.9991;AF_popmax=1;AF_male=0.9992;AF_female=0.9990;AF_raw=0.9991;AF_afr=0.9969;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=0.9997;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934619;Kaviar_AC=144494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179628918 rs34819099 C T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=18195;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon42:c.G9962A:p.R3321Q,TTN:NM_133432:exon42:c.G9962A:p.R3321Q,TTN:NM_133437:exon42:c.G9962A:p.R3321Q,TTN:NM_001256850:exon43:c.G10100A:p.R3367Q,TTN:NM_001267550:exon43:c.G10100A:p.R3367Q,TTN:NM_133378:exon43:c.G10100A:p.R3367Q,TTN:NM_133379:exon43:c.G10100A:p.R3367Q;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34819099;CLNALLELEID=55743;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.305;SIFT_converted_rankscore=0.152;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.235;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.661;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.294;MetaSVM_score=-0.990;MetaSVM_rankscore=0.326;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_rankscore=0.312;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.051;REVEL_rankscore=0.147;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.746;CADD_raw_rankscore=0.507;CADD_phred=23.3;DANN_score=0.979;DANN_rankscore=0.361;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_rankscore=0.376;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.373;Eigen-PC-raw=-0.253;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.392;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=1.32;GERP++_RS_rankscore=0.208;phyloP100way_vertebrate=0.765;phyloP100way_vertebrate_rankscore=0.260;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=6.065;SiPhy_29way_logOdds_rankscore=0.190;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0164;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0064;AF=0.0094;AF_popmax=0.0152;AF_male=0.0099;AF_female=0.0088;AF_raw=0.0094;AF_afr=0.0032;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0152;AF_fin=0.0026;AF_asj=0.0172;AF_oth=0.0074;non_topmed_AF_popmax=0.0133;non_neuro_AF_popmax=0.0154;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0103944;Kaviar_AC=1607;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.820478;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179629363 rs4894043 T C 100 PASS AC=214;AF=0.973642;AN=214;NS=2504;DP=18514;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9032;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E;1000g2015aug_all=0.973642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894043;CLNALLELEID=56871;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9923;ExAC_nontcga_AFR=0.9158;ExAC_nontcga_AMR=0.9968;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9747;AF_popmax=1;AF_male=0.9745;AF_female=0.9749;AF_raw=0.9747;AF_afr=0.9097;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971275;Kaviar_AC=150161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.496194;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179629461 rs2291311 C T 100 PASS AC=202;AF=0.804912;AN=214;NS=2504;DP=17831;EAS_AF=0.7847;AMR_AF=0.6671;AFR_AF=0.8253;EUR_AF=0.9145;SAS_AF=0.7832;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M;1000g2015aug_all=0.804912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291311;CLNALLELEID=56856;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.158;SIFT_converted_rankscore=0.298;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.721;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.395;MetaSVM_score=-1.065;MetaSVM_rankscore=0.106;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.235;REVEL_rankscore=0.542;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.855;CADD_raw_rankscore=0.404;CADD_phred=21.6;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.735;fathmm-MKL_coding_rankscore=0.357;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.163;Eigen-PC-raw=0.153;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.82;GERP++_RS_rankscore=0.615;phyloP100way_vertebrate=1.488;phyloP100way_vertebrate_rankscore=0.349;phyloP20way_mammalian=0.068;phyloP20way_mammalian_rankscore=0.175;phastCons100way_vertebrate=0.787;phastCons100way_vertebrate_rankscore=0.293;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=11.614;SiPhy_29way_logOdds_rankscore=0.502;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9322;ExAC_nontcga_ALL=0.8422;ExAC_nontcga_AFR=0.8323;ExAC_nontcga_AMR=0.5471;ExAC_nontcga_EAS=0.7601;ExAC_nontcga_FIN=0.8854;ExAC_nontcga_NFE=0.9268;ExAC_nontcga_OTH=0.8530;ExAC_nontcga_SAS=0.7901;AF=0.8817;AF_popmax=0.9322;AF_male=0.8804;AF_female=0.8835;AF_raw=0.8811;AF_afr=0.8272;AF_sas=.;AF_amr=0.6386;AF_eas=0.7808;AF_nfe=0.9322;AF_fin=0.8892;AF_asj=0.9172;AF_oth=0.9017;non_topmed_AF_popmax=0.9327;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9322;Kaviar_AF=0.850164;Kaviar_AC=131437;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.484036;ALLELE_END GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179631091 rs377693857 A T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19276;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377693857;CLNALLELEID=199677;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631214 rs2291312 T C 100 PASS AC=11;AF=0.167732;AN=214;NS=2504;DP=19941;EAS_AF=0.2143;AMR_AF=0.3271;AFR_AF=0.0772;EUR_AF=0.0845;SAS_AF=0.2147;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon40:c.A9459G:p.E3153E,TTN:NM_133432:exon40:c.A9459G:p.E3153E,TTN:NM_133437:exon40:c.A9459G:p.E3153E,TTN:NM_001256850:exon41:c.A9597G:p.E3199E,TTN:NM_001267550:exon41:c.A9597G:p.E3199E,TTN:NM_133378:exon41:c.A9597G:p.E3199E,TTN:NM_133379:exon41:c.A9597G:p.E3199E;1000g2015aug_all=0.167732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291312;CLNALLELEID=56825;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0667;ExAC_nontcga_ALL=0.1498;ExAC_nontcga_AFR=0.0834;ExAC_nontcga_AMR=0.4505;ExAC_nontcga_EAS=0.2410;ExAC_nontcga_FIN=0.1146;ExAC_nontcga_NFE=0.0724;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.2091;AF=0.0933;AF_popmax=0.3585;AF_male=0.0942;AF_female=0.0921;AF_raw=0.0933;AF_afr=0.0837;AF_sas=.;AF_amr=0.3585;AF_eas=0.2175;AF_nfe=0.0677;AF_fin=0.1108;AF_asj=0.0828;AF_oth=0.0956;non_topmed_AF_popmax=0.3654;non_neuro_AF_popmax=0.3357;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.135445;Kaviar_AC=20940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.779455;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631357 rs201990196 TA T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=25264;EAS_AF=0;AMR_AF=0;AFR_AF=0.0068;EUR_AF=0.001;SAS_AF=0;AA=?|AAAAAAA|AAAAAA|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201990196;CLNALLELEID=199679;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0075;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0013;AF=0.0020;AF_popmax=0.0068;AF_male=0.0018;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0068;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0067;non_neuro_AF_popmax=0.0063;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631362 rs566665016;rs3816782 A C 100 PASS AC=15;AF=0.145367;AN=214;NS=2504;DP=19666;EAS_AF=0.1954;AMR_AF=0.245;AFR_AF=0.1611;EUR_AF=0.0765;SAS_AF=0.0726;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.145367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1195;ExAC_nontcga_AFR=0.1650;ExAC_nontcga_AMR=0.3256;ExAC_nontcga_EAS=0.2196;ExAC_nontcga_FIN=0.0729;ExAC_nontcga_NFE=0.0757;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0753;AF=0.1102;AF_popmax=0.2756;AF_male=0.1116;AF_female=0.1085;AF_raw=0.1100;AF_afr=0.1594;AF_sas=.;AF_amr=0.2756;AF_eas=0.1985;AF_nfe=0.0745;AF_fin=0.0746;AF_asj=0.1103;AF_oth=0.0860;non_topmed_AF_popmax=0.2788;non_neuro_AF_popmax=0.2444;non_cancer_AF_popmax=.;controls_AF_popmax=0.2647;Kaviar_AF=0.0175548;Kaviar_AC=2714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631364 rs140501763 AC A 100 PASS AC=4;AF=0.0846645;AN=214;NS=2504;DP=19659;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0681;EUR_AF=0.0368;SAS_AF=0.1728;AA=|||unknown(STR3?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0846645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140501763;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0223;ExAC_nontcga_ALL=0.0706;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0226;ExAC_nontcga_FIN=0.0577;ExAC_nontcga_NFE=0.0268;ExAC_nontcga_OTH=0.0826;ExAC_nontcga_SAS=0.1635;AF=0.0428;AF_popmax=0.1616;AF_male=0.0425;AF_female=0.0431;AF_raw=0.0430;AF_afr=0.0642;AF_sas=.;AF_amr=0.1616;AF_eas=0.0282;AF_nfe=0.0236;AF_fin=0.0525;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1679;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632496 rs4893853 T C 100 PASS AC=5;AF=0.0860623;AN=214;NS=2504;DP=21137;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0749;EUR_AF=0.0348;SAS_AF=0.1728;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.A9323G:p.K3108R,TTN:NM_133432:exon39:c.A9323G:p.K3108R,TTN:NM_133437:exon39:c.A9323G:p.K3108R,TTN:NM_001256850:exon40:c.A9461G:p.K3154R,TTN:NM_001267550:exon40:c.A9461G:p.K3154R,TTN:NM_133378:exon40:c.A9461G:p.K3154R,TTN:NM_133379:exon40:c.A9461G:p.K3154R;1000g2015aug_all=0.0860623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4893853;CLNALLELEID=56812;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.44;SIFT_converted_rankscore=0.150;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.188;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.195;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.301;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.406;PROVEAN_pred=N;VEST3_score=0.045;VEST3_rankscore=0.088;MetaSVM_score=-1.005;MetaSVM_rankscore=0.285;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.376;CADD_raw_rankscore=0.229;CADD_phred=12.66;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.884;fathmm-MKL_coding_rankscore=0.481;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.319;Eigen-PC-raw=-0.175;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=2.14;GERP++_RS_rankscore=0.264;phyloP100way_vertebrate=1.860;phyloP100way_vertebrate_rankscore=0.388;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.138;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0212;ExAC_nontcga_ALL=0.0706;ExAC_nontcga_AFR=0.0742;ExAC_nontcga_AMR=0.1890;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0572;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.1672;AF=0.0438;AF_popmax=0.1616;AF_male=0.0432;AF_female=0.0446;AF_raw=0.0439;AF_afr=0.0705;AF_sas=.;AF_amr=0.1616;AF_eas=0.0282;AF_nfe=0.0221;AF_fin=0.0526;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1679;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.062179;Kaviar_AC=9613;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.311493;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632598 rs72647894 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20056;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.G9221A:p.R3074Q,TTN:NM_133432:exon39:c.G9221A:p.R3074Q,TTN:NM_133437:exon39:c.G9221A:p.R3074Q,TTN:NM_001256850:exon40:c.G9359A:p.R3120Q,TTN:NM_001267550:exon40:c.G9359A:p.R3120Q,TTN:NM_133378:exon40:c.G9359A:p.R3120Q,TTN:NM_133379:exon40:c.G9359A:p.R3120Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647894;CLNALLELEID=56800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.231;SIFT_converted_rankscore=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.652;Polyphen2_HVAR_rankscore=0.551;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.787;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.15;FATHMM_converted_rankscore=0.652;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_converted_rankscore=0.671;PROVEAN_pred=N;VEST3_score=0.312;VEST3_rankscore=0.810;MetaSVM_score=-0.712;MetaSVM_rankscore=0.599;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_rankscore=0.643;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.072;CADD_raw_rankscore=0.547;CADD_phred=23.7;DANN_score=0.991;DANN_rankscore=0.530;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.518;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.513;Eigen-PC-raw=0.557;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=2.946;phyloP100way_vertebrate_rankscore=0.485;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.931;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=11.209;SiPhy_29way_logOdds_rankscore=0.478;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0117;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0041;AF=0.0061;AF_popmax=0.0108;AF_male=0.0052;AF_female=0.0071;AF_raw=0.0061;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0137;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0201;Kaviar_AF=0.0041655;Kaviar_AC=644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.595183;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632710 rs2291313 T C 100 PASS AC=165;AF=0.503994;AN=214;NS=2504;DP=19335;EAS_AF=0.3224;AMR_AF=0.4827;AFR_AF=0.4085;EUR_AF=0.7763;SAS_AF=0.5552;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291313;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7988;ExAC_nontcga_ALL=0.6556;ExAC_nontcga_AFR=0.4565;ExAC_nontcga_AMR=0.3915;ExAC_nontcga_EAS=0.3108;ExAC_nontcga_FIN=0.7917;ExAC_nontcga_NFE=0.7967;ExAC_nontcga_OTH=0.7089;ExAC_nontcga_SAS=0.5850;AF=0.6715;AF_popmax=0.8001;AF_male=0.6646;AF_female=0.6801;AF_raw=0.6710;AF_afr=0.4576;AF_sas=.;AF_amr=0.4655;AF_eas=0.3250;AF_nfe=0.8001;AF_fin=0.8040;AF_asj=0.8103;AF_oth=0.75;non_topmed_AF_popmax=0.8027;non_neuro_AF_popmax=0.7976;non_cancer_AF_popmax=.;controls_AF_popmax=0.8102;Kaviar_AF=0.666201;Kaviar_AC=102996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291313;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7988;ExAC_nontcga_ALL=0.6556;ExAC_nontcga_AFR=0.4565;ExAC_nontcga_AMR=0.3915;ExAC_nontcga_EAS=0.3108;ExAC_nontcga_FIN=0.7917;ExAC_nontcga_NFE=0.7967;ExAC_nontcga_OTH=0.7089;ExAC_nontcga_SAS=0.5850;AF=0.6715;AF_popmax=0.8001;AF_male=0.6646;AF_female=0.6801;AF_raw=0.6710;AF_afr=0.4576;AF_sas=.;AF_amr=0.4655;AF_eas=0.3250;AF_nfe=0.8001;AF_fin=0.8040;AF_asj=0.8103;AF_oth=0.75;non_topmed_AF_popmax=0.8027;non_neuro_AF_popmax=0.7976;non_cancer_AF_popmax=.;controls_AF_popmax=0.8102;Kaviar_AF=0.666201;Kaviar_AC=102996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 +2 179633644 rs4894045 G C 100 PASS AC=5;AF=0.0866613;AN=214;NS=2504;DP=22539;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0756;EUR_AF=0.0348;SAS_AF=0.1748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon37:c.C8781G:p.S2927S,TTN:NM_133432:exon37:c.C8781G:p.S2927S,TTN:NM_133437:exon37:c.C8781G:p.S2927S,TTN:NM_001256850:exon38:c.C8919G:p.S2973S,TTN:NM_001267550:exon38:c.C8919G:p.S2973S,TTN:NM_133378:exon38:c.C8919G:p.S2973S,TTN:NM_133379:exon38:c.C8919G:p.S2973S;1000g2015aug_all=0.0866613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894045;CLNALLELEID=56735;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0707;ExAC_nontcga_AFR=0.0735;ExAC_nontcga_AMR=0.1885;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0571;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0824;ExAC_nontcga_SAS=0.1681;AF=0.0437;AF_popmax=0.1619;AF_male=0.0431;AF_female=0.0444;AF_raw=0.0437;AF_afr=0.0703;AF_sas=.;AF_amr=0.1619;AF_eas=0.0270;AF_nfe=0.0221;AF_fin=0.0524;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1649;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.062192;Kaviar_AC=9615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.362301;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179634389 rs570467105 TA T 100 PASS AC=214;AF=0.996605;AN=214;NS=2504;DP=12156;EAS_AF=0.994;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570467105;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0525;ExAC_nontcga_AFR=0.0749;ExAC_nontcga_AMR=0.0409;ExAC_nontcga_EAS=0.1216;ExAC_nontcga_FIN=0.0311;ExAC_nontcga_NFE=0.0428;ExAC_nontcga_OTH=0.0425;ExAC_nontcga_SAS=0.0697;AF=0.1649;AF_popmax=0.4670;AF_male=0.1688;AF_female=0.1600;AF_raw=0.1643;AF_afr=0.2208;AF_sas=.;AF_amr=0.1534;AF_eas=0.4670;AF_nfe=0.1253;AF_fin=0.0819;AF_asj=0.0769;AF_oth=0.1178;non_topmed_AF_popmax=0.4635;non_neuro_AF_popmax=0.4670;non_cancer_AF_popmax=.;controls_AF_popmax=0.4768;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179634391 rs573000455 TA T 100 PASS AC=214;AF=0.996605;AN=214;NS=2504;DP=12241;EAS_AF=0.994;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573000455;CLNALLELEID=499309;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0487;ExAC_nontcga_AFR=0.0718;ExAC_nontcga_AMR=0.0393;ExAC_nontcga_EAS=0.0998;ExAC_nontcga_FIN=0.0272;ExAC_nontcga_NFE=0.0397;ExAC_nontcga_OTH=0.0365;ExAC_nontcga_SAS=0.0657;AF=0.1652;AF_popmax=0.4676;AF_male=0.1690;AF_female=0.1603;AF_raw=0.1645;AF_afr=0.2221;AF_sas=.;AF_amr=0.1528;AF_eas=0.4676;AF_nfe=0.1252;AF_fin=0.0817;AF_asj=0.0775;AF_oth=0.1195;non_topmed_AF_popmax=0.4641;non_neuro_AF_popmax=0.4676;non_cancer_AF_popmax=.;controls_AF_popmax=0.4768;Kaviar_AF=0.0026843;Kaviar_AC=415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179634421 rs200875815 T G 100 PASS AC=42;AF=0.215455;AN=214;NS=2504;DP=13192;EAS_AF=0.125;AMR_AF=0.2233;AFR_AF=0.2776;EUR_AF=0.1541;SAS_AF=0.2822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon36:c.A8749C:p.T2917P,TTN:NM_133432:exon36:c.A8749C:p.T2917P,TTN:NM_133437:exon36:c.A8749C:p.T2917P,TTN:NM_001256850:exon37:c.A8887C:p.T2963P,TTN:NM_001267550:exon37:c.A8887C:p.T2963P,TTN:NM_133378:exon37:c.A8887C:p.T2963P,TTN:NM_133379:exon37:c.A8887C:p.T2963P;1000g2015aug_all=0.215455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200875815;CLNALLELEID=141529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.116;SIFT_converted_rankscore=0.477;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.491;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.55;FATHMM_converted_rankscore=0.711;FATHMM_pred=T;PROVEAN_score=-4.07;PROVEAN_converted_rankscore=0.817;PROVEAN_pred=D;VEST3_score=0.459;VEST3_rankscore=0.829;MetaSVM_score=0.160;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.540;MetaLR_rankscore=0.830;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.705;REVEL_rankscore=0.896;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.313;CADD_raw_rankscore=0.339;CADD_phred=18.25;DANN_score=0.941;DANN_rankscore=0.237;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.970;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.755;Eigen-PC-raw=0.732;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=5.893;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.756;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=16.376;SiPhy_29way_logOdds_rankscore=0.831;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3906;ExAC_nontcga_AFR=0.4651;ExAC_nontcga_AMR=0.4857;ExAC_nontcga_EAS=0.4835;ExAC_nontcga_FIN=0.4640;ExAC_nontcga_NFE=0.3325;ExAC_nontcga_OTH=0.4026;ExAC_nontcga_SAS=0.4124;AF=0.0066;AF_popmax=0.0108;AF_male=0.0072;AF_female=0.0058;AF_raw=0.0071;AF_afr=0.0006;AF_sas=.;AF_amr=0.0075;AF_eas=0;AF_nfe=0.0108;AF_fin=0;AF_asj=0.0586;AF_oth=0.0137;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0093;Kaviar_AF=0.0071733;Kaviar_AC=1109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.579335;ALLELE_END GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 +2 179634936 rs2306636 C T 100 PASS AC=6;AF=0.08127;AN=214;NS=2504;DP=20935;EAS_AF=0.1905;AMR_AF=0.1729;AFR_AF=0.0023;EUR_AF=0.0507;SAS_AF=0.0419;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8354A:p.S2785N,TTN:NM_133432:exon35:c.G8354A:p.S2785N,TTN:NM_133437:exon35:c.G8354A:p.S2785N,TTN:NM_001256850:exon36:c.G8492A:p.S2831N,TTN:NM_001267550:exon36:c.G8492A:p.S2831N,TTN:NM_133378:exon36:c.G8492A:p.S2831N,TTN:NM_133379:exon36:c.G8492A:p.S2831N;1000g2015aug_all=0.08127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306636;CLNALLELEID=56691;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.232;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=2.53;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.363;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.325;CADD_raw_rankscore=0.341;CADD_phred=18.33;DANN_score=0.940;DANN_rankscore=0.234;fathmm-MKL_coding_score=0.342;fathmm-MKL_coding_rankscore=0.248;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.482;Eigen-PC-raw=-0.189;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=2.998;phyloP100way_vertebrate_rankscore=0.489;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=12.356;SiPhy_29way_logOdds_rankscore=0.543;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0451;ExAC_nontcga_ALL=0.0791;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.2620;ExAC_nontcga_EAS=0.2149;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0475;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0420;AF=0.0491;AF_popmax=0.1969;AF_male=0.0508;AF_female=0.0470;AF_raw=0.0491;AF_afr=0.0127;AF_sas=.;AF_amr=0.1969;AF_eas=0.1865;AF_nfe=0.0454;AF_fin=0.0581;AF_asj=0.0621;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1865;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0730327;Kaviar_AC=11291;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.565039;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179634961 rs33917087 C A 100 PASS AC=1;AF=0.00758786;AN=214;NS=2504;DP=21665;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0008;EUR_AF=0.0179;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8329T:p.V2777F,TTN:NM_133432:exon35:c.G8329T:p.V2777F,TTN:NM_133437:exon35:c.G8329T:p.V2777F,TTN:NM_001256850:exon36:c.G8467T:p.V2823F,TTN:NM_001267550:exon36:c.G8467T:p.V2823F,TTN:NM_133378:exon36:c.G8467T:p.V2823F,TTN:NM_133379:exon36:c.G8467T:p.V2823F;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33917087;CLNALLELEID=56687;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.08;SIFT_converted_rankscore=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.640;MutationTaster_converted_rankscore=0.421;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-3.3;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.465;VEST3_rankscore=0.557;MetaSVM_score=-0.006;MetaSVM_rankscore=0.821;MetaSVM_pred=T;MetaLR_score=0.349;MetaLR_rankscore=0.714;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.904;CADD_raw_rankscore=0.410;CADD_phred=21.9;DANN_score=0.943;DANN_rankscore=0.240;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.620;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.726;Eigen-PC-raw=0.707;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=2.166;phyloP100way_vertebrate_rankscore=0.418;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.964;phastCons100way_vertebrate_rankscore=0.336;phastCons20way_mammalian=0.857;phastCons20way_mammalian_rankscore=0.358;SiPhy_29way_logOdds=20.628;SiPhy_29way_logOdds_rankscore=0.995;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0220;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0242;ExAC_nontcga_NFE=0.0212;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0026;AF=0.0160;AF_popmax=0.0233;AF_male=0.0153;AF_female=0.0169;AF_raw=0.0160;AF_afr=0.0033;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0233;AF_fin=0.0207;AF_asj=0.0034;AF_oth=0.0230;non_topmed_AF_popmax=0.0239;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.573169;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179635882 rs4894047 C T 100 PASS AC=214;AF=0.967851;AN=214;NS=2504;DP=22078;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.8812;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.967851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9733;AF_popmax=1;AF_male=0.9733;AF_female=0.9734;AF_raw=0.9733;AF_afr=0.9053;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179635888 rs570924209 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570924209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.893e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.848e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=6.488e-05;AF_male=5.726e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.033e-05;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179635919 rs13011633 C T 100 PASS AC=11;AF=0.0155751;AN=214;NS=2504;DP=22250;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0008;EUR_AF=0.0427;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13011633;CLNALLELEID=141528;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0377;ExAC_nontcga_ALL=0.0242;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0200;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0281;ExAC_nontcga_NFE=0.0359;ExAC_nontcga_OTH=0.0375;ExAC_nontcga_SAS=0.0090;AF=0.0237;AF_popmax=0.0401;AF_male=0.0232;AF_female=0.0243;AF_raw=0.0237;AF_afr=0.0052;AF_sas=.;AF_amr=0.0401;AF_eas=0.0006;AF_nfe=0.0350;AF_fin=0.0239;AF_asj=0.0069;AF_oth=0.0359;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0433;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0257371;Kaviar_AC=3979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179636257 rs2291305 T A 100 PASS AC=6;AF=0.0814696;AN=214;NS=2504;DP=18728;EAS_AF=0.1915;AMR_AF=0.1729;AFR_AF=0.0023;EUR_AF=0.0507;SAS_AF=0.0419;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0814696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291305;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0490;AF_popmax=0.1969;AF_male=0.0506;AF_female=0.0470;AF_raw=0.0492;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1881;AF_nfe=0.0452;AF_fin=0.0581;AF_asj=0.0621;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.012626;Kaviar_AC=1952;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179637861 rs56142888 C G 100 PASS AC=5;AF=0.0754792;AN=214;NS=2504;DP=19209;EAS_AF=0.1905;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon32:c.G7692C:p.M2564I,TTN:NM_133432:exon32:c.G7692C:p.M2564I,TTN:NM_133437:exon32:c.G7692C:p.M2564I,TTN:NM_001256850:exon33:c.G7830C:p.M2610I,TTN:NM_001267550:exon33:c.G7830C:p.M2610I,TTN:NM_133378:exon33:c.G7830C:p.M2610I,TTN:NM_133379:exon33:c.G7830C:p.M2610I;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56142888;CLNALLELEID=56615;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.339;SIFT_converted_rankscore=0.236;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.168;VEST3_rankscore=0.447;MetaSVM_score=-1.071;MetaSVM_rankscore=0.091;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.057;CADD_raw_rankscore=0.195;CADD_phred=10.98;DANN_score=0.920;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.853;fathmm-MKL_coding_rankscore=0.442;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.302;Eigen-PC-raw=-0.094;GenoCanyon_score=0.615;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.71;GERP++_RS_rankscore=0.589;phyloP100way_vertebrate=0.689;phyloP100way_vertebrate_rankscore=0.249;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=4.003;SiPhy_29way_logOdds_rankscore=0.090;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0742;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.2602;ExAC_nontcga_EAS=0.2123;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0522;ExAC_nontcga_SAS=0.0183;AF=0.0483;AF_popmax=0.1962;AF_male=0.0500;AF_female=0.0463;AF_raw=0.0483;AF_afr=0.0124;AF_sas=.;AF_amr=0.1962;AF_eas=0.1881;AF_nfe=0.0440;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1968;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.2002;Kaviar_AF=0.068796;Kaviar_AC=10636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.704223;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179638238 rs2291306 G A 100 PASS AC=22;AF=0.0754792;AN=214;NS=2504;DP=20564;EAS_AF=0.0218;AMR_AF=0.0706;AFR_AF=0.0809;EUR_AF=0.0954;SAS_AF=0.1063;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.C7407T:p.Y2469Y,TTN:NM_133432:exon31:c.C7407T:p.Y2469Y,TTN:NM_133437:exon31:c.C7407T:p.Y2469Y,TTN:NM_001256850:exon32:c.C7545T:p.Y2515Y,TTN:NM_001267550:exon32:c.C7545T:p.Y2515Y,TTN:NM_133378:exon32:c.C7545T:p.Y2515Y,TTN:NM_133379:exon32:c.C7545T:p.Y2515Y;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291306;CLNALLELEID=56585;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.0903;ExAC_nontcga_AFR=0.0774;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0.0228;ExAC_nontcga_FIN=0.0926;ExAC_nontcga_NFE=0.1078;ExAC_nontcga_OTH=0.0807;ExAC_nontcga_SAS=0.1026;AF=0.0947;AF_popmax=0.1139;AF_male=0.0950;AF_female=0.0944;AF_raw=0.0948;AF_afr=0.0785;AF_sas=.;AF_amr=0.0366;AF_eas=0.0257;AF_nfe=0.1139;AF_fin=0.0964;AF_asj=0.0690;AF_oth=0.0994;non_topmed_AF_popmax=0.1149;non_neuro_AF_popmax=0.1128;non_cancer_AF_popmax=.;controls_AF_popmax=0.1154;Kaviar_AF=0.0923533;Kaviar_AC=14278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.210169;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179638246 rs150208472 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=20591;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.G7399C:p.G2467R,TTN:NM_133432:exon31:c.G7399C:p.G2467R,TTN:NM_133437:exon31:c.G7399C:p.G2467R,TTN:NM_001256850:exon32:c.G7537C:p.G2513R,TTN:NM_001267550:exon32:c.G7537C:p.G2513R,TTN:NM_133378:exon32:c.G7537C:p.G2513R,TTN:NM_133379:exon32:c.G7537C:p.G2513R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150208472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.978;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.11;FATHMM_converted_rankscore=0.775;FATHMM_pred=T;PROVEAN_score=-6.31;PROVEAN_converted_rankscore=0.941;PROVEAN_pred=D;VEST3_score=0.41;VEST3_rankscore=0.801;MetaSVM_score=0.702;MetaSVM_rankscore=0.932;MetaSVM_pred=D;MetaLR_score=0.748;MetaLR_rankscore=0.914;MetaLR_pred=D;M-CAP_score=0.081;M-CAP_rankscore=0.736;M-CAP_pred=D;REVEL_score=0.800;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.644;CADD_raw_rankscore=0.259;CADD_phred=14.09;DANN_score=0.833;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.838;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.933;Eigen-PC-raw=0.839;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.114;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.179970;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179638721 rs4894048 C T 100 PASS AC=5;AF=0.0874601;AN=214;NS=2504;DP=19821;EAS_AF=0.0149;AMR_AF=0.1599;AFR_AF=0.0915;EUR_AF=0.0358;SAS_AF=0.1585;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon30:c.G7036A:p.G2346S,TTN:NM_133432:exon30:c.G7036A:p.G2346S,TTN:NM_133437:exon30:c.G7036A:p.G2346S,TTN:NM_001256850:exon31:c.G7174A:p.G2392S,TTN:NM_001267550:exon31:c.G7174A:p.G2392S,TTN:NM_133378:exon31:c.G7174A:p.G2392S,TTN:NM_133379:exon31:c.G7174A:p.G2392S;1000g2015aug_all=0.0874601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894048;CLNALLELEID=56542;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.506;Polyphen2_HVAR_rankscore=0.604;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.738;MutationTaster_converted_rankscore=0.404;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.54;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-3.83;PROVEAN_converted_rankscore=0.806;PROVEAN_pred=D;VEST3_score=0.134;VEST3_rankscore=0.169;MetaSVM_score=-0.660;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.152;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.571;REVEL_rankscore=0.828;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.444;CADD_raw_rankscore=0.355;CADD_phred=19.10;DANN_score=0.938;DANN_rankscore=0.232;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_rankscore=0.575;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.461;Eigen-PC-raw=0.431;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.86;GERP++_RS_rankscore=0.625;phyloP100way_vertebrate=4.172;phyloP100way_vertebrate_rankscore=0.578;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=15.039;SiPhy_29way_logOdds_rankscore=0.713;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0697;ExAC_nontcga_AFR=0.0962;ExAC_nontcga_AMR=0.1913;ExAC_nontcga_EAS=0.0171;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0253;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.1493;AF=0.0497;AF_popmax=0.1651;AF_male=0.0498;AF_female=0.0495;AF_raw=0.0497;AF_afr=0.0916;AF_sas=.;AF_amr=0.1651;AF_eas=0.0218;AF_nfe=0.0221;AF_fin=0.0541;AF_asj=0.0243;AF_oth=0.0469;non_topmed_AF_popmax=0.1716;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0620238;Kaviar_AC=9589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.341374;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179640152 rs528516043 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20612;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G6301A:p.A2101T,TTN:NM_133432:exon27:c.G6301A:p.A2101T,TTN:NM_133437:exon27:c.G6301A:p.A2101T,TTN:NM_001256850:exon28:c.G6439A:p.A2147T,TTN:NM_001267550:exon28:c.G6439A:p.A2147T,TTN:NM_133378:exon28:c.G6439A:p.A2147T,TTN:NM_133379:exon28:c.G6439A:p.A2147T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528516043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.011;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.41;Polyphen2_HDIV_rankscore=0.444;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.442;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.764;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-2.82;PROVEAN_converted_rankscore=0.677;PROVEAN_pred=D;VEST3_score=0.16;VEST3_rankscore=0.542;MetaSVM_score=0.096;MetaSVM_rankscore=0.841;MetaSVM_pred=D;MetaLR_score=0.397;MetaLR_rankscore=0.750;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.389;M-CAP_pred=T;REVEL_score=0.369;REVEL_rankscore=0.692;MutPred_score=0.712;MutPred_rankscore=0.848;CADD_raw=2.105;CADD_raw_rankscore=0.314;CADD_phred=16.88;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.882;fathmm-MKL_coding_rankscore=0.478;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.377;Eigen-PC-raw=0.399;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.375;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=4.899;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.837;SiPhy_29way_logOdds_rankscore=0.570;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.881833;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +2 179641112 rs141213991 C A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=22171;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5341T:p.A1781S,TTN:NM_133432:exon27:c.G5341T:p.A1781S,TTN:NM_133437:exon27:c.G5341T:p.A1781S,TTN:NM_001256850:exon28:c.G5479T:p.A1827S,TTN:NM_001267550:exon28:c.G5479T:p.A1827S,TTN:NM_133378:exon28:c.G5479T:p.A1827S,TTN:NM_133379:exon28:c.G5479T:p.A1827S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141213991;CLNALLELEID=56349;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.087;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=0.953;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.473;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.437;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-1.38;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.151;VEST3_rankscore=0.711;MetaSVM_score=-0.370;MetaSVM_rankscore=0.730;MetaSVM_pred=T;MetaLR_score=0.277;MetaLR_rankscore=0.649;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.611;M-CAP_pred=D;REVEL_score=0.254;REVEL_rankscore=0.569;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.291;CADD_raw_rankscore=0.336;CADD_phred=18.10;DANN_score=0.945;DANN_rankscore=0.243;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.789;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.452;Eigen-PC-raw=0.527;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.16;GERP++_RS_rankscore=0.704;phyloP100way_vertebrate=6.143;phyloP100way_vertebrate_rankscore=0.713;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=18.648;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.877503;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641336 rs150737838 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19405;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5117A:p.R1706H,TTN:NM_133432:exon27:c.G5117A:p.R1706H,TTN:NM_133437:exon27:c.G5117A:p.R1706H,TTN:NM_001256850:exon28:c.G5255A:p.R1752H,TTN:NM_001267550:exon28:c.G5255A:p.R1752H,TTN:NM_133378:exon28:c.G5255A:p.R1752H,TTN:NM_133379:exon28:c.G5255A:p.R1752H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150737838;CLNALLELEID=499326;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.035;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.955;MutationTaster_converted_rankscore=0.482;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.44;PROVEAN_converted_rankscore=0.784;PROVEAN_pred=D;VEST3_score=0.37;VEST3_rankscore=0.714;MetaSVM_score=-0.114;MetaSVM_rankscore=0.798;MetaSVM_pred=T;MetaLR_score=0.405;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.652;M-CAP_pred=D;REVEL_score=0.521;REVEL_rankscore=0.799;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.253;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.637;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.611;Eigen-PC-raw=0.608;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=4.941;phyloP100way_vertebrate_rankscore=0.630;phyloP20way_mammalian=0.010;phyloP20way_mammalian_rankscore=0.139;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=18.391;SiPhy_29way_logOdds_rankscore=0.904;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=6.369e-05;AF_popmax=0.0006;AF_male=5.723e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898512;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641802 rs149453892 A G 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=17615;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149453892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0235;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0038292;Kaviar_AC=592;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.321781;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641975 rs12476289 C T 100 PASS AC=5;AF=0.0752796;AN=214;NS=2504;DP=18493;EAS_AF=0.1895;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon26:c.G4577A:p.R1526Q,TTN:NM_133432:exon26:c.G4577A:p.R1526Q,TTN:NM_133437:exon26:c.G4577A:p.R1526Q,TTN:NM_001256850:exon27:c.G4715A:p.R1572Q,TTN:NM_001267550:exon27:c.G4715A:p.R1572Q,TTN:NM_133378:exon27:c.G4715A:p.R1572Q,TTN:NM_133379:exon27:c.G4715A:p.R1572Q;1000g2015aug_all=0.0752796;GWAS=rs12476289|QT-interval|0.29|2E-6|PMID:20031603;ORegAnno_REGULATORY_P=rs12476289|QT-interval|0.29|2E-6|PMID:20031603;avsnp150=rs12476289;CLNALLELEID=56263;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.603;SIFT_converted_rankscore=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.753;Polyphen2_HDIV_rankscore=0.435;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.273;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.311;MetaSVM_score=-1.051;MetaSVM_rankscore=0.140;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.306;CADD_raw_rankscore=0.338;CADD_phred=18.21;DANN_score=0.977;DANN_rankscore=0.349;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_rankscore=0.356;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.019;Eigen-PC-raw=0.126;GenoCanyon_score=0.835;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.0;GERP++_RS_rankscore=0.661;phyloP100way_vertebrate=0.791;phyloP100way_vertebrate_rankscore=0.264;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.925;phastCons100way_vertebrate_rankscore=0.319;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=7.247;SiPhy_29way_logOdds_rankscore=0.251;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0430;ExAC_nontcga_ALL=0.0738;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.2606;ExAC_nontcga_EAS=0.2112;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0183;AF=0.0481;AF_popmax=0.1939;AF_male=0.0498;AF_female=0.0460;AF_raw=0.0482;AF_afr=0.0125;AF_sas=.;AF_amr=0.1939;AF_eas=0.1860;AF_nfe=0.0438;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1943;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0688154;Kaviar_AC=10639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755814;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179642425 rs719201 G A 100 PASS AC=212;AF=0.911542;AN=214;NS=2504;DP=20701;EAS_AF=0.8829;AMR_AF=0.9467;AFR_AF=0.8185;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.911542;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs719201;CLNALLELEID=56228;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9914;ExAC_nontcga_ALL=0.9570;ExAC_nontcga_AFR=0.8522;ExAC_nontcga_AMR=0.9301;ExAC_nontcga_EAS=0.8742;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9884;ExAC_nontcga_OTH=0.9669;ExAC_nontcga_SAS=0.9583;AF=0.9428;AF_popmax=0.9892;AF_male=0.9418;AF_female=0.9439;AF_raw=0.9425;AF_afr=0.8513;AF_sas=.;AF_amr=0.9528;AF_eas=0.8734;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9743;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.946476;Kaviar_AC=146327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.642426;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179642589 rs72647876 C G,T 100 PASS AC=3,1;AF=0.0103834,0.000399361;AN=214;NS=2504;DP=18433;EAS_AF=0.0159,0;AMR_AF=0.0101,0;AFR_AF=0.0008,0;EUR_AF=0.0119,0.002;SAS_AF=0.0164,0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184C:p.R1395P,TTN:NM_133432:exon24:c.G4184C:p.R1395P,TTN:NM_133437:exon24:c.G4184C:p.R1395P,TTN:NM_001256850:exon25:c.G4322C:p.R1441P,TTN:NM_001267550:exon25:c.G4322C:p.R1441P,TTN:NM_133378:exon25:c.G4322C:p.R1441P,TTN:NM_133379:exon25:c.G4322C:p.R1441P;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647876;CLNALLELEID=56211;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.095;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-4.19;PROVEAN_converted_rankscore=0.858;PROVEAN_pred=D;VEST3_score=0.518;VEST3_rankscore=0.760;MetaSVM_score=-0.403;MetaSVM_rankscore=0.720;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_rankscore=0.619;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.459;REVEL_rankscore=0.760;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.261;CADD_raw_rankscore=0.571;CADD_phred=23.9;DANN_score=0.959;DANN_rankscore=0.276;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.854;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.804;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.254;SiPhy_29way_logOdds_rankscore=0.939;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0076;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0.0082;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0174;AF=0.0078;AF_popmax=0.0103;AF_male=0.0074;AF_female=0.0083;AF_raw=0.0078;AF_afr=0.0014;AF_sas=.;AF_amr=0.0094;AF_eas=0.0103;AF_nfe=0.0089;AF_fin=0.0176;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0116;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.660324;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184A:p.R1395H,TTN:NM_133432:exon24:c.G4184A:p.R1395H,TTN:NM_133437:exon24:c.G4184A:p.R1395H,TTN:NM_001256850:exon25:c.G4322A:p.R1441H,TTN:NM_001267550:exon25:c.G4322A:p.R1441H,TTN:NM_133378:exon25:c.G4322A:p.R1441H,TTN:NM_133379:exon25:c.G4322A:p.R1441H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647876;CLNALLELEID=286341;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.03;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.652;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.769;PROVEAN_pred=D;VEST3_score=0.219;VEST3_rankscore=0.705;MetaSVM_score=-0.144;MetaSVM_rankscore=0.791;MetaSVM_pred=T;MetaLR_score=0.438;MetaLR_rankscore=0.778;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.546;M-CAP_pred=D;REVEL_score=0.377;REVEL_rankscore=0.699;MutPred_score=0.302;MutPred_rankscore=0.271;CADD_raw=4.476;CADD_raw_rankscore=0.599;CADD_phred=24.2;DANN_score=0.985;DANN_rankscore=0.419;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.802;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.841;Eigen-PC-raw=0.828;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.254;SiPhy_29way_logOdds_rankscore=0.939;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.687e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.660324;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179643775 rs36021856 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21020;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36021856;CLNALLELEID=56183;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.268;SIFT_converted_rankscore=0.599;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-4.56;PROVEAN_converted_rankscore=0.908;PROVEAN_pred=D;VEST3_score=0.454;VEST3_rankscore=0.774;MetaSVM_score=-0.120;MetaSVM_rankscore=0.796;MetaSVM_pred=T;MetaLR_score=0.356;MetaLR_rankscore=0.719;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.679;REVEL_rankscore=0.884;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.042;CADD_raw_rankscore=0.426;CADD_phred=22.4;DANN_score=0.965;DANN_rankscore=0.293;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.816;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.902;Eigen-PC-raw=0.882;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.868;phyloP100way_vertebrate_rankscore=0.854;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0103;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0766;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0005;AF=0.0165;AF_popmax=0.0159;AF_male=0.0134;AF_female=0.0204;AF_raw=0.0166;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0159;AF_fin=0.0662;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0192;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0290;Kaviar_AF=0.0088356;Kaviar_AC=1366;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.754354;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179643886 rs2291302 A G 100 PASS AC=212;AF=0.919928;AN=214;NS=2504;DP=19674;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8487;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.919928;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291302;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9913;ExAC_nontcga_ALL=0.9589;ExAC_nontcga_AFR=0.8703;ExAC_nontcga_AMR=0.9310;ExAC_nontcga_EAS=0.8761;ExAC_nontcga_FIN=0.9808;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9667;ExAC_nontcga_SAS=0.9583;AF=0.9469;AF_popmax=0.9892;AF_male=0.9464;AF_female=0.9475;AF_raw=0.9467;AF_afr=0.8665;AF_sas=.;AF_amr=0.9528;AF_eas=0.8721;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9742;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.952433;Kaviar_AC=147248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.433063;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179643934 rs2291301 A G 100 PASS AC=212;AF=0.920128;AN=214;NS=2504;DP=19329;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8495;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.920128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291301;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9916;ExAC_nontcga_ALL=0.9591;ExAC_nontcga_AFR=0.8698;ExAC_nontcga_AMR=0.9315;ExAC_nontcga_EAS=0.8754;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9668;ExAC_nontcga_SAS=0.9583;AF=0.9471;AF_popmax=0.9892;AF_male=0.9468;AF_female=0.9476;AF_raw=0.9468;AF_afr=0.8672;AF_sas=.;AF_amr=0.9528;AF_eas=0.8721;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9760;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.94308;Kaviar_AC=145802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.558053;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179644035 rs1552280 G A 100 PASS AC=212;AF=0.920128;AN=214;NS=2504;DP=17368;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8495;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L;1000g2015aug_all=0.920128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1552280;CLNALLELEID=56166;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.329;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.221;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=2.21;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.092;MetaSVM_score=-0.961;MetaSVM_rankscore=0.391;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.581;CADD_raw_rankscore=0.371;CADD_phred=19.99;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.732;fathmm-MKL_coding_rankscore=0.355;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.312;Eigen-PC-raw=-0.104;GenoCanyon_score=0.932;GenoCanyon_score_rankscore=0.270;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=6.294;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=0.168;phyloP20way_mammalian_rankscore=0.246;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=11.842;SiPhy_29way_logOdds_rankscore=0.515;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9914;ExAC_nontcga_ALL=0.9587;ExAC_nontcga_AFR=0.8688;ExAC_nontcga_AMR=0.9315;ExAC_nontcga_EAS=0.8752;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9668;ExAC_nontcga_SAS=0.9583;AF=0.9469;AF_popmax=0.9892;AF_male=0.9466;AF_female=0.9473;AF_raw=0.9467;AF_afr=0.8662;AF_sas=.;AF_amr=0.9539;AF_eas=0.8728;AF_nfe=0.9892;AF_fin=0.9796;AF_asj=1;AF_oth=0.9742;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.956534;Kaviar_AC=147882;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.595224;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179644160 rs2291308 T C 100 PASS AC=5;AF=0.0756789;AN=214;NS=2504;DP=16861;EAS_AF=0.1925;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0143;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.A3621G:p.R1207R,TTN:NM_133432:exon22:c.A3621G:p.R1207R,TTN:NM_133437:exon22:c.A3621G:p.R1207R,TTN:NM_001256850:exon23:c.A3759G:p.R1253R,TTN:NM_001267550:exon23:c.A3759G:p.R1253R,TTN:NM_133378:exon23:c.A3759G:p.R1253R,TTN:NM_133379:exon23:c.A3759G:p.R1253R;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291308;CLNALLELEID=56150;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0422;ExAC_nontcga_ALL=0.0899;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.2875;ExAC_nontcga_EAS=0.2489;ExAC_nontcga_FIN=0.0655;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0577;ExAC_nontcga_SAS=0.0212;AF=0.0483;AF_popmax=0.1958;AF_male=0.0499;AF_female=0.0463;AF_raw=0.0484;AF_afr=0.0125;AF_sas=.;AF_amr=0.1958;AF_eas=0.1881;AF_nfe=0.0439;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0506;non_topmed_AF_popmax=0.1963;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0675864;Kaviar_AC=10449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.515780;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179644848 rs564353179 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.G3470C:p.G1157A,TTN:NM_133432:exon21:c.G3470C:p.G1157A,TTN:NM_133437:exon21:c.G3470C:p.G1157A,TTN:NM_001256850:exon22:c.G3608C:p.G1203A,TTN:NM_001267550:exon22:c.G3608C:p.G1203A,TTN:NM_133378:exon22:c.G3608C:p.G1203A,TTN:NM_133379:exon22:c.G3608C:p.G1203A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564353179;CLNALLELEID=392415;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.335;SIFT_converted_rankscore=0.211;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.202;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.807;MutationTaster_converted_rankscore=0.346;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.234;VEST3_rankscore=0.400;MetaSVM_score=-0.929;MetaSVM_rankscore=0.443;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_rankscore=0.402;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.491;M-CAP_pred=D;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=0.303;MutPred_rankscore=0.272;CADD_raw=1.775;CADD_raw_rankscore=0.274;CADD_phred=14.84;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.697;fathmm-MKL_coding_rankscore=0.340;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.209;Eigen-PC-raw=0.019;GenoCanyon_score=0.160;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=3.366;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.193;SiPhy_29way_logOdds_rankscore=0.726;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.545e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.610085;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179644855 rs10497520 T C 100 PASS AC=188;AF=0.5002;AN=214;NS=2504;DP=18494;EAS_AF=0.2173;AMR_AF=0.5086;AFR_AF=0.4077;EUR_AF=0.8569;SAS_AF=0.544;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E;1000g2015aug_all=0.5002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497520;CLNALLELEID=56138;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.43;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_rankscore=0.454;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.444;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.796;MutationTaster_converted_rankscore=0.291;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.0;FATHMM_converted_rankscore=0.629;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.616;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.202;REVEL_rankscore=0.492;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.524;CADD_raw_rankscore=0.365;CADD_phred=19.62;DANN_score=0.973;DANN_rankscore=0.327;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.772;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.034;Eigen-PC-raw=0.208;GenoCanyon_score=0.836;GenoCanyon_score_rankscore=0.248;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=4.100;phyloP100way_vertebrate_rankscore=0.573;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.647;SiPhy_29way_logOdds_rankscore=0.559;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8702;ExAC_nontcga_ALL=0.6808;ExAC_nontcga_AFR=0.4615;ExAC_nontcga_AMR=0.3690;ExAC_nontcga_EAS=0.1945;ExAC_nontcga_FIN=0.8174;ExAC_nontcga_NFE=0.8643;ExAC_nontcga_OTH=0.7587;ExAC_nontcga_SAS=0.5795;AF=0.7065;AF_popmax=0.8670;AF_male=0.6998;AF_female=0.7149;AF_raw=0.7062;AF_afr=0.4649;AF_sas=.;AF_amr=0.4882;AF_eas=0.2086;AF_nfe=0.8670;AF_fin=0.8291;AF_asj=0.8793;AF_oth=0.8072;non_topmed_AF_popmax=0.8655;non_neuro_AF_popmax=0.8652;non_cancer_AF_popmax=.;controls_AF_popmax=0.8648;Kaviar_AF=0.70208;Kaviar_AC=108543;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771433;ALLELE_END GT 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179647546 rs55863869 A G 100 PASS AC=8;AF=0.0776757;AN=214;NS=2504;DP=19961;EAS_AF=0.1944;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0557;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon17:c.T2949C:p.Y983Y,TTN:NM_133432:exon17:c.T2949C:p.Y983Y,TTN:NM_133437:exon17:c.T2949C:p.Y983Y,TTN:NM_001256850:exon18:c.T3087C:p.Y1029Y,TTN:NM_001267550:exon18:c.T3087C:p.Y1029Y,TTN:NM_133378:exon18:c.T3087C:p.Y1029Y,TTN:NM_133379:exon18:c.T3087C:p.Y1029Y;1000g2015aug_all=0.0776757;GWAS=rs55863869|QT-interval|1.92|2E-10|PMID:29213071;ORegAnno_REGULATORY_P=rs55863869|QT-interval|1.92|2E-10|PMID:29213071;avsnp150=rs55863869;CLNALLELEID=56072;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0476;ExAC_nontcga_ALL=0.0772;ExAC_nontcga_AFR=0.0107;ExAC_nontcga_AMR=0.2635;ExAC_nontcga_EAS=0.2138;ExAC_nontcga_FIN=0.0639;ExAC_nontcga_NFE=0.0499;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0187;AF=0.0537;AF_popmax=0.2017;AF_male=0.0547;AF_female=0.0523;AF_raw=0.0537;AF_afr=0.0133;AF_sas=.;AF_amr=0.2017;AF_eas=0.1918;AF_nfe=0.0517;AF_fin=0.0642;AF_asj=0.0552;AF_oth=0.0579;non_topmed_AF_popmax=0.2025;non_neuro_AF_popmax=0.1918;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0718878;Kaviar_AC=11114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.800342;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179647823 rs60305852 C T 100 PASS AC=2;AF=0.0828674;AN=214;NS=2504;DP=17357;EAS_AF=0.1171;AMR_AF=0.0548;AFR_AF=0.1528;EUR_AF=0.0089;SAS_AF=0.0491;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0828674;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60305852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0427;ExAC_nontcga_AFR=0.1369;ExAC_nontcga_AMR=0.0697;ExAC_nontcga_EAS=0.1241;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0351;ExAC_nontcga_SAS=0.0488;AF=0.0538;AF_popmax=0.1363;AF_male=0.0548;AF_female=0.0525;AF_raw=0.0539;AF_afr=0.1363;AF_sas=.;AF_amr=0.0496;AF_eas=0.1245;AF_nfe=0.0106;AF_fin=0.0207;AF_asj=0.0035;AF_oth=0.0267;non_topmed_AF_popmax=0.1368;non_neuro_AF_popmax=0.1463;non_cancer_AF_popmax=.;controls_AF_popmax=0.1396;Kaviar_AF=0.037645;Kaviar_AC=5820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280250;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179647824 rs72647864 G A 100 PASS AC=6;AF=0.0181709;AN=214;NS=2504;DP=17322;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0225;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0362;ExAC_nontcga_ALL=0.0301;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0655;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0335;ExAC_nontcga_OTH=0.0219;ExAC_nontcga_SAS=0.0260;AF=0.0241;AF_popmax=0.0554;AF_male=0.0233;AF_female=0.0251;AF_raw=0.0241;AF_afr=0.0079;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0349;AF_fin=0.0179;AF_asj=0.0312;AF_oth=0.0285;non_topmed_AF_popmax=0.0580;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0300966;Kaviar_AC=4653;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280250;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179648778 rs199707799 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199707799;CLNALLELEID=499622;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.170684;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 179649134 rs562733195 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19236;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562733195;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.914376;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179650408 rs35813871 G A 100 PASS AC=56;AF=0.100439;AN=214;NS=2504;DP=21394;EAS_AF=0.001;AMR_AF=0.1499;AFR_AF=0.0862;EUR_AF=0.2157;SAS_AF=0.0685;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I;1000g2015aug_all=0.100439;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35813871;CLNALLELEID=55970;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.593;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.730;MutationTaster_converted_rankscore=0.372;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_converted_rankscore=0.717;PROVEAN_pred=D;VEST3_score=0.197;VEST3_rankscore=0.656;MetaSVM_score=-1.116;MetaSVM_rankscore=0.026;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.681;CADD_raw_rankscore=0.383;CADD_phred=20.7;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.580;Eigen-PC-raw=0.634;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=5.937;phyloP100way_vertebrate_rankscore=0.697;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.784;SiPhy_29way_logOdds_rankscore=0.964;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2345;ExAC_nontcga_ALL=0.1630;ExAC_nontcga_AFR=0.1058;ExAC_nontcga_AMR=0.1071;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1225;ExAC_nontcga_NFE=0.2378;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.0774;AF=0.1611;AF_popmax=0.2103;AF_male=0.1635;AF_female=0.1582;AF_raw=0.1616;AF_afr=0.1054;AF_sas=.;AF_amr=0.1592;AF_eas=0.0006;AF_nfe=0.2103;AF_fin=0.1312;AF_asj=0.3793;AF_oth=0.1801;non_topmed_AF_popmax=0.1959;non_neuro_AF_popmax=0.2113;non_cancer_AF_popmax=.;controls_AF_popmax=0.1730;Kaviar_AF=0.174571;Kaviar_AC=26989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739854;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 +2 179650701 rs6715406 C T 100 PASS AC=81;AF=0.204673;AN=214;NS=2504;DP=20748;EAS_AF=0.0685;AMR_AF=0.1916;AFR_AF=0.1445;EUR_AF=0.4135;SAS_AF=0.2209;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_133437:exon13:c.G2106A:p.E702E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_133379:exon14:c.G2244A:p.E748E;1000g2015aug_all=0.204673;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6715406;CLNALLELEID=55939;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4057;ExAC_nontcga_ALL=0.3133;ExAC_nontcga_AFR=0.1870;ExAC_nontcga_AMR=0.1517;ExAC_nontcga_EAS=0.0674;ExAC_nontcga_FIN=0.4780;ExAC_nontcga_NFE=0.4008;ExAC_nontcga_OTH=0.3718;ExAC_nontcga_SAS=0.2519;AF=0.3413;AF_popmax=0.4251;AF_male=0.3339;AF_female=0.3506;AF_raw=0.3412;AF_afr=0.1892;AF_sas=.;AF_amr=0.2210;AF_eas=0.0834;AF_nfe=0.4251;AF_fin=0.4778;AF_asj=0.2931;AF_oth=0.4094;non_topmed_AF_popmax=0.4334;non_neuro_AF_popmax=0.4228;non_cancer_AF_popmax=.;controls_AF_popmax=0.4487;Kaviar_AF=0.322059;Kaviar_AC=49791;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875789;ALLELE_END GT 1|1 0|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 +2 179650932 rs556233223 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20063;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556233223;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.366185;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654032 rs67491807 T G 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=17007;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67491807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0108;AF_popmax=0.0136;AF_male=0.0095;AF_female=0.0125;AF_raw=0.0109;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0256;AF_asj=0.0069;AF_oth=0.0120;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.596408;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654121 rs551313395 G T 100 PASS AC=16;AF=0.0644968;AN=214;NS=2504;DP=17258;EAS_AF=0.1121;AMR_AF=0.0879;AFR_AF=0.0295;EUR_AF=0.1083;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon12:c.C1904A:p.T635N,TTN:NM_133432:exon12:c.C1904A:p.T635N,TTN:NM_133437:exon12:c.C1904A:p.T635N,TTN:NM_001256850:exon13:c.C2042A:p.T681N,TTN:NM_001267550:exon13:c.C2042A:p.T681N,TTN:NM_133378:exon13:c.C2042A:p.T681N,TTN:NM_133379:exon13:c.C2042A:p.T681N;1000g2015aug_all=0.0644968;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551313395;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.393;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=-2.1;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.088;MetaSVM_score=-0.967;MetaSVM_rankscore=0.378;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.429;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=0.453;MutPred_rankscore=0.517;CADD_raw=1.430;CADD_raw_rankscore=0.235;CADD_phred=12.95;DANN_score=0.843;DANN_rankscore=0.147;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.012;Eigen-PC-raw=0.143;GenoCanyon_score=0.024;GenoCanyon_score_rankscore=0.136;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=2.032;phyloP100way_vertebrate_rankscore=0.405;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.897;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=11.263;SiPhy_29way_logOdds_rankscore=0.481;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.935e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0020892;Kaviar_AC=323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000728|hsa-miR-375-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.519624;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654136 rs564526675 C A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654695 rs190935632 C G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179656963 rs72647855 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18186;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0011;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.528760;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179656977 rs72647853 A C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659064 rs72647850 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21337;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659110 rs144043280 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19741;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144043280;CLNALLELEID=141487;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041138;Kaviar_AC=636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659334 rs2291303 A C 100 PASS AC=2;AF=0.0934505;AN=214;NS=2504;DP=21490;EAS_AF=0.1171;AMR_AF=0.0591;AFR_AF=0.1982;EUR_AF=0.0089;SAS_AF=0.0389;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291303;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0617;AF_popmax=0.1647;AF_male=0.0618;AF_female=0.0615;AF_raw=0.0621;AF_afr=0.1647;AF_sas=.;AF_amr=0.0519;AF_eas=0.1242;AF_nfe=0.0107;AF_fin=0.0207;AF_asj=0.0034;AF_oth=0.0258;non_topmed_AF_popmax=0.1655;non_neuro_AF_popmax=0.1745;non_cancer_AF_popmax=.;controls_AF_popmax=0.1695;Kaviar_AF=0.0062612;Kaviar_AC=968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.484814;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659722 rs146772214 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20517;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C1172T:p.A391V,TTN:NM_001267550:exon7:c.C1172T:p.A391V,TTN:NM_003319:exon7:c.C1172T:p.A391V,TTN:NM_133378:exon7:c.C1172T:p.A391V,TTN:NM_133379:exon7:c.C1172T:p.A391V,TTN:NM_133432:exon7:c.C1172T:p.A391V,TTN:NM_133437:exon7:c.C1172T:p.A391V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146772214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.335;Polyphen2_HDIV_rankscore=0.478;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_rankscore=0.413;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.96;PROVEAN_converted_rankscore=0.532;PROVEAN_pred=N;VEST3_score=0.215;VEST3_rankscore=0.574;MetaSVM_score=-0.847;MetaSVM_rankscore=0.522;MetaSVM_pred=T;MetaLR_score=0.191;MetaLR_rankscore=0.543;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.513;M-CAP_pred=D;REVEL_score=0.179;REVEL_rankscore=0.454;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.255;CADD_raw_rankscore=0.332;CADD_phred=17.87;DANN_score=0.971;DANN_rankscore=0.319;fathmm-MKL_coding_score=0.323;fathmm-MKL_coding_rankscore=0.243;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.188;Eigen-PC-raw=-0.148;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.366;integrated_fitCons_score=0.743;integrated_fitCons_score_rankscore=0.982;integrated_confidence_value=0;GERP++_RS=5.08;GERP++_RS_rankscore=0.682;phyloP100way_vertebrate=1.216;phyloP100way_vertebrate_rankscore=0.318;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.024;phastCons100way_vertebrate_rankscore=0.198;phastCons20way_mammalian=0.042;phastCons20way_mammalian_rankscore=0.158;SiPhy_29way_logOdds=10.650;SiPhy_29way_logOdds_rankscore=0.446;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.709739;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659757 rs55972547 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20309;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.A1137G:p.R379R,TTN:NM_001267550:exon7:c.A1137G:p.R379R,TTN:NM_003319:exon7:c.A1137G:p.R379R,TTN:NM_133378:exon7:c.A1137G:p.R379R,TTN:NM_133379:exon7:c.A1137G:p.R379R,TTN:NM_133432:exon7:c.A1137G:p.R379R,TTN:NM_133437:exon7:c.A1137G:p.R379R;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55972547;CLNALLELEID=55762;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.603759;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659815 rs56128843 C G 100 PASS AC=2;AF=0.0119808;AN=214;NS=2504;DP=21159;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0197;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.G1079C:p.R360T,TTN:NM_001267550:exon7:c.G1079C:p.R360T,TTN:NM_003319:exon7:c.G1079C:p.R360T,TTN:NM_133378:exon7:c.G1079C:p.R360T,TTN:NM_133379:exon7:c.G1079C:p.R360T,TTN:NM_133432:exon7:c.G1079C:p.R360T,TTN:NM_133437:exon7:c.G1079C:p.R360T;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56128843;CLNALLELEID=55752;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.202;SIFT_converted_rankscore=0.405;SIFT_pred=T;Polyphen2_HDIV_score=0.049;Polyphen2_HDIV_rankscore=0.379;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.338;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.246;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.05;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.555;PROVEAN_pred=N;VEST3_score=0.249;VEST3_rankscore=0.594;MetaSVM_score=-1.012;MetaSVM_rankscore=0.264;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.329;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.453;CADD_raw_rankscore=0.356;CADD_phred=19.16;DANN_score=0.876;DANN_rankscore=0.168;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.591;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.141;Eigen-PC-raw=0.051;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.353;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=1.105;phyloP100way_vertebrate_rankscore=0.305;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=6.433;SiPhy_29way_logOdds_rankscore=0.209;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0156;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0053;AF_popmax=0.0150;AF_male=0.0053;AF_female=0.0052;AF_raw=0.0053;AF_afr=0.0150;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0136;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0056015;Kaviar_AC=866;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732317;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659912 rs16866538 G A 100 PASS AC=12;AF=0.236022;AN=214;NS=2504;DP=20301;EAS_AF=0.5883;AMR_AF=0.098;AFR_AF=0.1974;EUR_AF=0.0477;SAS_AF=0.2168;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C982T:p.R328C,TTN:NM_001267550:exon7:c.C982T:p.R328C,TTN:NM_003319:exon7:c.C982T:p.R328C,TTN:NM_133378:exon7:c.C982T:p.R328C,TTN:NM_133379:exon7:c.C982T:p.R328C,TTN:NM_133432:exon7:c.C982T:p.R328C,TTN:NM_133437:exon7:c.C982T:p.R328C;1000g2015aug_all=0.236022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866538;CLNALLELEID=56867;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.08;Polyphen2_HDIV_rankscore=0.418;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.330;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.7;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_converted_rankscore=0.885;PROVEAN_pred=D;VEST3_score=0.296;VEST3_rankscore=0.798;MetaSVM_score=-0.891;MetaSVM_rankscore=0.488;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.417;REVEL_rankscore=0.730;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.207;CADD_raw_rankscore=0.326;CADD_phred=17.56;DANN_score=0.678;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.130;Eigen-PC-raw=-0.077;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=5.448;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.086;phastCons20way_mammalian_rankscore=0.183;SiPhy_29way_logOdds=11.731;SiPhy_29way_logOdds_rankscore=0.508;Interpro_domain=.;GTEx_V6p_gene=ENSG00000079150.13;GTEx_V6p_tissue=Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0531;ExAC_nontcga_ALL=0.1288;ExAC_nontcga_AFR=0.1680;ExAC_nontcga_AMR=0.1040;ExAC_nontcga_EAS=0.5992;ExAC_nontcga_FIN=0.0490;ExAC_nontcga_NFE=0.0512;ExAC_nontcga_OTH=0.0692;ExAC_nontcga_SAS=0.1918;AF=0.1116;AF_popmax=0.5792;AF_male=0.1168;AF_female=0.1052;AF_raw=0.1119;AF_afr=0.1686;AF_sas=.;AF_amr=0.0887;AF_eas=0.5792;AF_nfe=0.0542;AF_fin=0.0391;AF_asj=0.0414;AF_oth=0.0701;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5792;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.118575;Kaviar_AC=18332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.284283;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659928 rs551244224 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20378;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.G966T:p.R322S,TTN:NM_001267550:exon7:c.G966T:p.R322S,TTN:NM_003319:exon7:c.G966T:p.R322S,TTN:NM_133378:exon7:c.G966T:p.R322S,TTN:NM_133379:exon7:c.G966T:p.R322S,TTN:NM_133432:exon7:c.G966T:p.R322S,TTN:NM_133437:exon7:c.G966T:p.R322S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551244224;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.210;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.887;MutationTaster_converted_rankscore=0.279;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.212;VEST3_rankscore=0.263;MetaSVM_score=-0.977;MetaSVM_rankscore=0.357;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.408;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.609;M-CAP_pred=D;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=0.279;MutPred_rankscore=0.234;CADD_raw=1.766;CADD_raw_rankscore=0.273;CADD_phred=14.79;DANN_score=0.756;DANN_rankscore=0.108;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.687;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.477;Eigen-PC-raw=-0.339;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.365;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.33;GERP++_RS_rankscore=0.509;phyloP100way_vertebrate=2.390;phyloP100way_vertebrate_rankscore=0.438;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.056;phastCons20way_mammalian_rankscore=0.168;SiPhy_29way_logOdds=7.156;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.71e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.204e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.534258;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179660030 rs3754950 T C 100 PASS AC=4;AF=0.101837;AN=214;NS=2504;DP=21323;EAS_AF=0.1171;AMR_AF=0.0605;AFR_AF=0.2057;EUR_AF=0.0129;SAS_AF=0.0665;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3754950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0506;ExAC_nontcga_AFR=0.1747;ExAC_nontcga_AMR=0.0738;ExAC_nontcga_EAS=0.1273;ExAC_nontcga_FIN=0.0193;ExAC_nontcga_NFE=0.0143;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0649;AF=0.0656;AF_popmax=0.1749;AF_male=0.0661;AF_female=0.0650;AF_raw=0.0656;AF_afr=0.1749;AF_sas=.;AF_amr=0.0531;AF_eas=0.1256;AF_nfe=0.0125;AF_fin=0.0207;AF_asj=0.0103;AF_oth=0.0267;non_topmed_AF_popmax=0.1756;non_neuro_AF_popmax=0.1855;non_cancer_AF_popmax=.;controls_AF_popmax=0.1812;Kaviar_AF=0.0449283;Kaviar_AC=6946;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179665231 rs149574119 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21124;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon4:c.C474G:p.L158L,TTN:NM_001267550:exon4:c.C474G:p.L158L,TTN:NM_003319:exon4:c.C474G:p.L158L,TTN:NM_133378:exon4:c.C474G:p.L158L,TTN:NM_133379:exon4:c.C474G:p.L158L,TTN:NM_133432:exon4:c.C474G:p.L158L,TTN:NM_133437:exon4:c.C474G:p.L158L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149574119;CLNALLELEID=392443;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771502;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179665279 rs56137037 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19731;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon4:c.C426T:p.A142A,TTN:NM_001267550:exon4:c.C426T:p.A142A,TTN:NM_003319:exon4:c.C426T:p.A142A,TTN:NM_133378:exon4:c.C426T:p.A142A,TTN:NM_133379:exon4:c.C426T:p.A142A,TTN:NM_133432:exon4:c.C426T:p.A142A,TTN:NM_133437:exon4:c.C426T:p.A142A;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56137037;CLNALLELEID=56209;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041073;Kaviar_AC=635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.821198;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179666830 rs68003004 G A 100 PASS AC=19;AF=0.0313498;AN=214;NS=2504;DP=18023;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.0023;EUR_AF=0.0905;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0313498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68003004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0849;ExAC_nontcga_ALL=0.0561;ExAC_nontcga_AFR=0.0135;ExAC_nontcga_AMR=0.0416;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0715;ExAC_nontcga_NFE=0.0817;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0257;AF=0.0552;AF_popmax=0.0790;AF_male=0.0543;AF_female=0.0562;AF_raw=0.0552;AF_afr=0.0145;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0790;AF_fin=0.0717;AF_asj=0.0660;AF_oth=0.0654;non_topmed_AF_popmax=0.0808;non_neuro_AF_popmax=0.0793;non_cancer_AF_popmax=.;controls_AF_popmax=0.0802;Kaviar_AF=0.0581752;Kaviar_AC=8994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +2 179666956 rs201089861 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=2855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.C204T:p.P68P,TTN:NM_001267550:exon3:c.C204T:p.P68P,TTN:NM_003319:exon3:c.C204T:p.P68P,TTN:NM_133378:exon3:c.C204T:p.P68P,TTN:NM_133379:exon3:c.C204T:p.P68P,TTN:NM_133432:exon3:c.C204T:p.P68P,TTN:NM_133437:exon3:c.C204T:p.P68P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201089861;CLNALLELEID=258185;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.711e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.365e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.685325;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179666982 rs35683768 C A 100 PASS AC=3;AF=0.0289537;AN=214;NS=2504;DP=8936;EAS_AF=0.0159;AMR_AF=0.0202;AFR_AF=0.0719;EUR_AF=0.0089;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.G178T:p.D60Y,TTN:NM_001267550:exon3:c.G178T:p.D60Y,TTN:NM_003319:exon3:c.G178T:p.D60Y,TTN:NM_133378:exon3:c.G178T:p.D60Y,TTN:NM_133379:exon3:c.G178T:p.D60Y,TTN:NM_133432:exon3:c.G178T:p.D60Y,TTN:NM_133437:exon3:c.G178T:p.D60Y;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35683768;CLNALLELEID=55852;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.8;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.940;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.87;FATHMM_converted_rankscore=0.464;FATHMM_pred=T;PROVEAN_score=-5.57;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST3_score=0.508;VEST3_rankscore=0.630;MetaSVM_score=-0.910;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.100;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.344;REVEL_rankscore=0.670;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.822;CADD_raw_rankscore=0.516;CADD_phred=23.4;DANN_score=0.946;DANN_rankscore=0.246;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.741;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.789;Eigen-PC-raw=0.789;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.919;SiPhy_29way_logOdds_rankscore=0.971;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0142;ExAC_nontcga_AFR=0.0690;ExAC_nontcga_AMR=0.0101;ExAC_nontcga_EAS=0.0082;ExAC_nontcga_FIN=0.0157;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0142;AF=0.0243;AF_popmax=0.0685;AF_male=0.0244;AF_female=0.0241;AF_raw=0.0244;AF_afr=0.0685;AF_sas=.;AF_amr=0.0118;AF_eas=0.0096;AF_nfe=0.0051;AF_fin=0.0138;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0679;non_neuro_AF_popmax=0.0685;non_cancer_AF_popmax=.;controls_AF_popmax=0.0677;Kaviar_AF=0.0131499;Kaviar_AC=2033;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.658872;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179667090 rs3816849 C T 100 PASS AC=107;AF=0.703474;AN=214;NS=2504;DP=20347;EAS_AF=0.8571;AMR_AF=0.6873;AFR_AF=0.7262;EUR_AF=0.5616;SAS_AF=0.6718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.703474;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816849;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5384;ExAC_nontcga_ALL=0.6566;ExAC_nontcga_AFR=0.7270;ExAC_nontcga_AMR=0.7996;ExAC_nontcga_EAS=0.8815;ExAC_nontcga_FIN=0.6824;ExAC_nontcga_NFE=0.5710;ExAC_nontcga_OTH=0.655;ExAC_nontcga_SAS=0.6783;AF=0.6361;AF_popmax=0.8798;AF_male=0.6350;AF_female=0.6375;AF_raw=0.6360;AF_afr=0.7183;AF_sas=.;AF_amr=0.7347;AF_eas=0.8798;AF_nfe=0.5620;AF_fin=0.6547;AF_asj=0.4138;AF_oth=0.6044;non_topmed_AF_popmax=0.8781;non_neuro_AF_popmax=0.8798;non_cancer_AF_popmax=.;controls_AF_popmax=0.8993;Kaviar_AF=0.602754;Kaviar_AC=93187;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.038438;ALLELE_END GT 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|1 0|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 +2 179669199 rs148127052 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21922;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148127052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0013;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0006;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0016905;Kaviar_AC=44;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.941845;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179669227 rs3830329 CTGGAG C 100 PASS AC=2;AF=0.0628994;AN=214;NS=2504;DP=22425;EAS_AF=0.1171;AMR_AF=0.0447;AFR_AF=0.09;EUR_AF=0.0089;SAS_AF=0.0389;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0628994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3830329;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0374;AF_popmax=0.1237;AF_male=0.0377;AF_female=0.0371;AF_raw=0.0375;AF_afr=0.0787;AF_sas=.;AF_amr=0.0450;AF_eas=0.1237;AF_nfe=0.0105;AF_fin=0.0211;AF_asj=0.0035;AF_oth=0.0203;non_topmed_AF_popmax=0.1229;non_neuro_AF_popmax=0.1237;non_cancer_AF_popmax=.;controls_AF_popmax=0.1288;Kaviar_AF=0.0008021;Kaviar_AC=124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.987319,99.153827;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179669244 rs200033767 G GA 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=21054;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0.0164;AA=AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200033767;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0048;ExAC_nontcga_EAS=0.0040;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0081;ExAC_nontcga_SAS=0.0185;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.207101;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220283259 rs1318299 A G 100 PASS AC=214;AF=0.886182;AN=214;NS=2504;DP=10488;EAS_AF=0.999;AMR_AF=0.9611;AFR_AF=0.615;EUR_AF=0.9901;SAS_AF=0.9765;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.A75G:p.P25P;1000g2015aug_all=0.886182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1318299;CLNALLELEID=44666;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9877;ExAC_nontcga_ALL=0.9657;ExAC_nontcga_AFR=0.6648;ExAC_nontcga_AMR=0.9821;ExAC_nontcga_EAS=0.9996;ExAC_nontcga_FIN=0.9978;ExAC_nontcga_NFE=0.9891;ExAC_nontcga_OTH=0.9759;ExAC_nontcga_SAS=0.9747;AF=0.8985;AF_popmax=1;AF_male=0.8962;AF_female=0.9013;AF_raw=0.8982;AF_afr=0.6581;AF_sas=.;AF_amr=0.9835;AF_eas=1;AF_nfe=0.9895;AF_fin=0.9971;AF_asj=0.9828;AF_oth=0.9770;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.877634;Kaviar_AC=135684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0606618::-0.600973;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848673;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220283277 rs2017800 T C 100 PASS AC=214;AF=0.866014;AN=214;NS=2504;DP=10522;EAS_AF=0.999;AMR_AF=0.9524;AFR_AF=0.5431;EUR_AF=0.9901;SAS_AF=0.9765;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T93C:p.S31S;1000g2015aug_all=0.866014;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2017800;CLNALLELEID=44667;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9880;ExAC_nontcga_ALL=0.9616;ExAC_nontcga_AFR=0.6064;ExAC_nontcga_AMR=0.9795;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9977;ExAC_nontcga_NFE=0.9886;ExAC_nontcga_OTH=0.9770;ExAC_nontcga_SAS=0.9748;AF=0.8820;AF_popmax=1;AF_male=0.8797;AF_female=0.8849;AF_raw=0.8816;AF_afr=0.6005;AF_sas=.;AF_amr=0.9811;AF_eas=1;AF_nfe=0.9892;AF_fin=0.9974;AF_asj=0.9828;AF_oth=0.9687;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0606618::-0.563276;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.863755;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220283591 rs397516695 T A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11113;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T407A:p.L136H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516695;CLNALLELEID=53428;CLNDN=Generalized_hypotonia|Neonatal_hypotonia|Restrictive_ventilatory_defect|Respiratory_distress|Neonatal_respiratory_distress|Respiratory_insufficiency_due_to_muscle_weakness|Muscular_Diseases|Proximal_muscle_weakness|Skeletal_myopathy|Pulmonary_alveolar_proteinosis|Interstitial_pulmonary_abnormality|Congenital_peripheral_neuropathy|Proximal_muscle_weakness_in_upper_limbs|Infantile_axial_hypotonia|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001319,MedGen:C2267233|Human_Phenotype_Ontology:HP:0002091,MedGen:C3277226|Human_Phenotype_Ontology:HP:0002098,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|Human_Phenotype_Ontology:HP:0002747,MedGen:C3806467|Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003701,MedGen:C0221629|Human_Phenotype_Ontology:HP:0003756,MedGen:C1533847,Orphanet:ORPHA98472|Human_Phenotype_Ontology:HP:0006517,MedGen:C0034050,SNOMED_CT:10501004|Human_Phenotype_Ontology:HP:0006530,MedGen:C0206062,Orphanet:ORPHA182095|Human_Phenotype_Ontology:HP:0006903,MedGen:C4024967|Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.443;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.495;MutationTaster_pred=D;MutationAssessor_score=4.605;MutationAssessor_score_rankscore=0.993;MutationAssessor_pred=H;FATHMM_score=-3.81;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-6.23;PROVEAN_converted_rankscore=0.905;PROVEAN_pred=D;VEST3_score=0.903;VEST3_rankscore=0.893;MetaSVM_score=1.085;MetaSVM_rankscore=0.991;MetaSVM_pred=D;MetaLR_score=0.960;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.446;M-CAP_rankscore=0.943;M-CAP_pred=D;REVEL_score=0.965;REVEL_rankscore=0.995;MutPred_score=0.797;MutPred_rankscore=0.917;CADD_raw=6.000;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.986;DANN_rankscore=0.436;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.844;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.995;Eigen-PC-raw=0.849;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=7.836;phyloP100way_vertebrate_rankscore=0.849;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.463;SiPhy_29way_logOdds_rankscore=0.669;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.925e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934248;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220283592 rs111828114 C T 100 PASS AC=9;AF=0.0123802;AN=214;NS=2504;DP=11251;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0457;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.C408T:p.L136L;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111828114;CLNALLELEID=53429;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0402;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0410;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1170;ExAC_nontcga_NFE=0.0823;ExAC_nontcga_OTH=0.0380;ExAC_nontcga_SAS=0.0064;AF=0.0304;AF_popmax=0.0432;AF_male=0.0285;AF_female=0.0328;AF_raw=0.0305;AF_afr=0.0062;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0432;AF_fin=0.0455;AF_asj=0.0310;AF_oth=0.0423;non_topmed_AF_popmax=0.0463;non_neuro_AF_popmax=0.0434;non_cancer_AF_popmax=.;controls_AF_popmax=0.0497;Kaviar_AF=0.0179817;Kaviar_AC=2780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934248;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 220283826 rs907677 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=12715;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs907677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9999;AF_popmax=1;AF_male=0.9999;AF_female=0.9999;AF_raw=0.9999;AF_afr=0.9998;AF_sas=.;AF_amr=1;AF_eas=0.9994;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.92777;Kaviar_AC=24148;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.692797;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220284779 rs12991025 C T 100 PASS AC=133;AF=0.529353;AN=214;NS=2504;DP=15923;EAS_AF=0.8155;AMR_AF=0.6153;AFR_AF=0.0696;EUR_AF=0.6243;SAS_AF=0.6973;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12991025;CLNALLELEID=250577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6303;ExAC_nontcga_ALL=0.6195;ExAC_nontcga_AFR=0.1540;ExAC_nontcga_AMR=0.6767;ExAC_nontcga_EAS=0.8131;ExAC_nontcga_FIN=0.7292;ExAC_nontcga_NFE=0.6272;ExAC_nontcga_OTH=0.6153;ExAC_nontcga_SAS=0.6753;AF=0.5280;AF_popmax=0.8037;AF_male=0.5200;AF_female=0.5381;AF_raw=0.5280;AF_afr=0.1647;AF_sas=.;AF_amr=0.6427;AF_eas=0.8037;AF_nfe=0.6462;AF_fin=0.7247;AF_asj=0.5448;AF_oth=0.6439;non_topmed_AF_popmax=0.8047;non_neuro_AF_popmax=0.8037;non_cancer_AF_popmax=.;controls_AF_popmax=0.8081;Kaviar_AF=0.601318;Kaviar_AC=92965;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.513007;ALLELE_END GT 1|1 1|0 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 0|0 0|0 0|1 +2 220284873 rs144261171 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18567;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon2:c.G635A:p.R212Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144261171;CLNALLELEID=173631;CLNDN=Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.061;SIFT_converted_rankscore=0.371;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=3.14;MutationAssessor_score_rankscore=0.885;MutationAssessor_pred=M;FATHMM_score=-2.97;FATHMM_converted_rankscore=0.920;FATHMM_pred=D;PROVEAN_score=-3.45;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.842;VEST3_rankscore=0.829;MetaSVM_score=1.016;MetaSVM_rankscore=0.975;MetaSVM_pred=D;MetaLR_score=0.892;MetaLR_rankscore=0.964;MetaLR_pred=D;M-CAP_score=0.311;M-CAP_rankscore=0.912;M-CAP_pred=D;REVEL_score=0.847;REVEL_rankscore=0.953;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.700;CADD_raw_rankscore=0.916;CADD_phred=32;DANN_score=1.000;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.896;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.922;Eigen-PC-raw=0.839;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=9.864;phyloP100way_vertebrate_rankscore=0.984;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=17.520;SiPhy_29way_logOdds_rankscore=0.876;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.371e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830802;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220284876 rs41272699 C T 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=18555;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon2:c.C638T:p.A213V;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41272699;CLNALLELEID=53432;CLNDN=Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Gene:1732,Human_Phenotype_Ontology:HP:0000776,MeSH:D065630,MedGen:C0235833,OMIM:142340,Orphanet:ORPHA2140|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_rankscore=0.433;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.981;MutationTaster_converted_rankscore=0.397;MutationTaster_pred=D;MutationAssessor_score=1.475;MutationAssessor_score_rankscore=0.372;MutationAssessor_pred=L;FATHMM_score=-2.49;FATHMM_converted_rankscore=0.892;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.227;VEST3_rankscore=0.278;MetaSVM_score=0.004;MetaSVM_rankscore=0.824;MetaSVM_pred=D;MetaLR_score=0.405;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.362;REVEL_rankscore=0.686;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.554;CADD_raw_rankscore=0.755;CADD_phred=26.4;DANN_score=0.999;DANN_rankscore=0.973;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.552;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.165;Eigen-PC-raw=0.179;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=1.514;phyloP100way_vertebrate_rankscore=0.352;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.803;phastCons100way_vertebrate_rankscore=0.295;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=14.599;SiPhy_29way_logOdds_rankscore=0.679;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0534;dbscSNV_RF_SCORE=0.296;esp6500siv2_ea=0.0137;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0032;AF=0.0099;AF_popmax=0.0145;AF_male=0.0096;AF_female=0.0102;AF_raw=0.0099;AF_afr=0.0029;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0145;AF_fin=0.0109;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0106014;Kaviar_AC=1639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830802;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285054 rs201945924 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19479;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon3:c.A721G:p.K241E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201945924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.503;MutationTaster_pred=D;MutationAssessor_score=2.885;MutationAssessor_score_rankscore=0.838;MutationAssessor_pred=M;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-3.6;PROVEAN_converted_rankscore=0.693;PROVEAN_pred=D;VEST3_score=0.753;VEST3_rankscore=0.748;MetaSVM_score=0.466;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.204;M-CAP_rankscore=0.870;M-CAP_pred=D;REVEL_score=0.790;REVEL_rankscore=0.932;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.166;CADD_raw_rankscore=0.851;CADD_phred=28.5;DANN_score=0.999;DANN_rankscore=0.948;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.956;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.765;Eigen-PC-raw=0.688;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.770;SiPhy_29way_logOdds_rankscore=0.623;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934923;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285088 rs151226355 C T 100 PASS AC=5;AF=0.00419329;AN=214;NS=2504;DP=19765;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0109;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151226355;CLNALLELEID=53436;CLNDN=Myofibrillar_myopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0096;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0088;AF=0.0058;AF_popmax=0.0094;AF_male=0.0066;AF_female=0.0047;AF_raw=0.0058;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0093854;Kaviar_AC=1451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.852853;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 220285182 rs41272701 C A 100 PASS AC=7;AF=0.0127796;AN=214;NS=2504;DP=18343;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0437;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41272701;CLNALLELEID=250578;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0521;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.0069;ExAC_nontcga_AMR=0.0142;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0521;ExAC_nontcga_NFE=0.0509;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0231;AF=0.0341;AF_popmax=0.0486;AF_male=0.0328;AF_female=0.0358;AF_raw=0.0342;AF_afr=0.0090;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0486;AF_fin=0.0443;AF_asj=0.0586;AF_oth=0.0527;non_topmed_AF_popmax=0.0477;non_neuro_AF_popmax=0.0499;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.035517;Kaviar_AC=5491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.820483;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285273 rs150370918 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=20215;EAS_AF=0.002;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C792T:p.D264D;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150370918;CLNALLELEID=53438;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0393;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.369e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0248;AF_male=0.0012;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0036157;Kaviar_AC=559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917028;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285309 rs1058261 C T 100 PASS AC=81;AF=0.33746;AN=214;NS=2504;DP=21149;EAS_AF=0.1835;AMR_AF=0.3429;AFR_AF=0.475;EUR_AF=0.3648;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C828T:p.D276D;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1058261;CLNALLELEID=53439;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3555;ExAC_nontcga_ALL=0.3331;ExAC_nontcga_AFR=0.4465;ExAC_nontcga_AMR=0.3005;ExAC_nontcga_EAS=0.1863;ExAC_nontcga_FIN=0.2695;ExAC_nontcga_NFE=0.3600;ExAC_nontcga_OTH=0.3526;ExAC_nontcga_SAS=0.2989;AF=0.3514;AF_popmax=0.4304;AF_male=0.3569;AF_female=0.3446;AF_raw=0.3514;AF_afr=0.4304;AF_sas=.;AF_amr=0.3337;AF_eas=0.1946;AF_nfe=0.3420;AF_fin=0.2732;AF_asj=0.4207;AF_oth=0.3235;non_topmed_AF_popmax=0.4303;non_neuro_AF_popmax=0.4237;non_cancer_AF_popmax=.;controls_AF_popmax=0.4289;Kaviar_AF=0.336574;Kaviar_AC=52035;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.948048;ALLELE_END GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220285395 rs137945254 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19931;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137945254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.640491;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285666 rs12920 G C 100 PASS AC=81;AF=0.33766;AN=214;NS=2504;DP=19718;EAS_AF=0.1835;AMR_AF=0.3444;AFR_AF=0.475;EUR_AF=0.3648;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon5:c.G1014C:p.L338L;1000g2015aug_all=0.33766;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12920;CLNALLELEID=53409;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3551;ExAC_nontcga_ALL=0.3387;ExAC_nontcga_AFR=0.4574;ExAC_nontcga_AMR=0.3066;ExAC_nontcga_EAS=0.1912;ExAC_nontcga_FIN=0.2791;ExAC_nontcga_NFE=0.3633;ExAC_nontcga_OTH=0.3589;ExAC_nontcga_SAS=0.3054;AF=0.3529;AF_popmax=0.4364;AF_male=0.3582;AF_female=0.3461;AF_raw=0.3531;AF_afr=0.4364;AF_sas=.;AF_amr=0.3322;AF_eas=0.1918;AF_nfe=0.3420;AF_fin=0.2728;AF_asj=0.4207;AF_oth=0.3238;non_topmed_AF_popmax=0.4364;non_neuro_AF_popmax=0.4305;non_cancer_AF_popmax=.;controls_AF_popmax=0.4347;Kaviar_AF=0.334828;Kaviar_AC=51765;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.935688;ALLELE_END GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220286142 rs1058284 G A 100 PASS AC=81;AF=0.333666;AN=214;NS=2504;DP=17124;EAS_AF=0.1835;AMR_AF=0.3429;AFR_AF=0.4607;EUR_AF=0.3648;SAS_AF=0.2781;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon6:c.G1104A:p.A368A;1000g2015aug_all=0.333666;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1058284;CLNALLELEID=53412;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3552;ExAC_nontcga_ALL=0.3332;ExAC_nontcga_AFR=0.4433;ExAC_nontcga_AMR=0.3011;ExAC_nontcga_EAS=0.1871;ExAC_nontcga_FIN=0.2696;ExAC_nontcga_NFE=0.3604;ExAC_nontcga_OTH=0.3516;ExAC_nontcga_SAS=0.2990;AF=0.3514;AF_popmax=0.4286;AF_male=0.3562;AF_female=0.3453;AF_raw=0.3512;AF_afr=0.4286;AF_sas=.;AF_amr=0.3353;AF_eas=0.1942;AF_nfe=0.3429;AF_fin=0.2732;AF_asj=0.4167;AF_oth=0.3235;non_topmed_AF_popmax=0.4284;non_neuro_AF_popmax=0.4226;non_cancer_AF_popmax=.;controls_AF_popmax=0.4270;Kaviar_AF=0.337221;Kaviar_AC=52135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929558;ALLELE_END GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220288562 rs200657337 C G 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=15227;EAS_AF=0.006;AMR_AF=0.0101;AFR_AF=0.0045;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200657337;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.796e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=3.706e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.009519;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220290674 rs73991549 G A 100 PASS AC=1;AF=0.00978435;AN=214;NS=2504;DP=19604;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0325;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon9:c.G1375A:p.V459I;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73991549;CLNALLELEID=53419;CLNDN=Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.559;Polyphen2_HDIV_rankscore=0.365;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_rankscore=0.314;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.350;LRT_pred=N;MutationTaster_score=0.963;MutationTaster_converted_rankscore=0.383;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=-4.17;FATHMM_converted_rankscore=0.969;FATHMM_pred=D;PROVEAN_score=0.0;PROVEAN_converted_rankscore=0.070;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=0.157;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.415;MetaLR_rankscore=0.762;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.431;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.930;CADD_raw_rankscore=0.293;CADD_phred=15.77;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.849;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.091;Eigen-PC-raw=0.218;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.625;integrated_fitCons_score_rankscore=0.396;integrated_confidence_value=0;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=7.240;phyloP100way_vertebrate_rankscore=0.775;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.877;phastCons20way_mammalian_rankscore=0.367;SiPhy_29way_logOdds=13.888;SiPhy_29way_logOdds_rankscore=0.631;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0312;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0007;AF=0.0087;AF_popmax=0.0306;AF_male=0.0089;AF_female=0.0084;AF_raw=0.0088;AF_afr=0.0306;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.496e-05;AF_fin=0.0006;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0308;non_neuro_AF_popmax=0.0312;non_cancer_AF_popmax=.;controls_AF_popmax=0.0313;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933336;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +3 8775589 rs1974763 C T 100 PASS AC=25;AF=0.0425319;AN=214;NS=2504;DP=15414;EAS_AF=0.006;AMR_AF=0.062;AFR_AF=0.0053;EUR_AF=0.1302;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C27T:p.L9L,CAV3:NM_033337:exon1:c.C27T:p.L9L;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1974763;CLNALLELEID=40376;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1248;ExAC_nontcga_ALL=0.0837;ExAC_nontcga_AFR=0.0227;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.1121;ExAC_nontcga_NFE=0.1268;ExAC_nontcga_OTH=0.0791;ExAC_nontcga_SAS=0.0273;AF=0.0879;AF_popmax=0.1252;AF_male=0.0866;AF_female=0.0895;AF_raw=0.0881;AF_afr=0.0247;AF_sas=.;AF_amr=0.0709;AF_eas=0.0019;AF_nfe=0.1252;AF_fin=0.1172;AF_asj=0.0621;AF_oth=0.1153;non_topmed_AF_popmax=0.1232;non_neuro_AF_popmax=0.1251;non_cancer_AF_popmax=.;controls_AF_popmax=0.1141;Kaviar_AF=0.0890609;Kaviar_AC=13769;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.041043;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8775661 rs1008642 C T 100 PASS AC=71;AF=0.371006;AN=214;NS=2504;DP=15192;EAS_AF=0.372;AMR_AF=0.3055;AFR_AF=0.621;EUR_AF=0.2684;SAS_AF=0.184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C99T:p.N33N,CAV3:NM_033337:exon1:c.C99T:p.N33N;1000g2015aug_all=0.371006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1008642;CLNALLELEID=40369;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2388;ExAC_nontcga_ALL=0.3021;ExAC_nontcga_AFR=0.5648;ExAC_nontcga_AMR=0.3319;ExAC_nontcga_EAS=0.3993;ExAC_nontcga_FIN=0.2995;ExAC_nontcga_NFE=0.2664;ExAC_nontcga_OTH=0.2988;ExAC_nontcga_SAS=0.2105;AF=0.3580;AF_popmax=0.5518;AF_male=0.3586;AF_female=0.3572;AF_raw=0.3585;AF_afr=0.5518;AF_sas=.;AF_amr=0.3290;AF_eas=0.4070;AF_nfe=0.2651;AF_fin=0.2976;AF_asj=0.3;AF_oth=0.2921;non_topmed_AF_popmax=0.5519;non_neuro_AF_popmax=0.5554;non_cancer_AF_popmax=.;controls_AF_popmax=0.5509;Kaviar_AF=0.292357;Kaviar_AC=45199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.931840;ALLELE_END GT 0|1 0|0 0|1 0|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 1|0 1|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 1|0 +3 8775702 rs11922879 G A 100 PASS AC=4;AF=0.076877;AN=214;NS=2504;DP=13589;EAS_AF=0.0089;AMR_AF=0.0476;AFR_AF=0.1823;EUR_AF=0.0517;SAS_AF=0.0511;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11922879;CLNALLELEID=40383;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0499;ExAC_nontcga_ALL=0.0566;ExAC_nontcga_AFR=0.1703;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0020;ExAC_nontcga_FIN=0.0778;ExAC_nontcga_NFE=0.0558;ExAC_nontcga_OTH=0.0599;ExAC_nontcga_SAS=0.0424;AF=0.0820;AF_popmax=0.1514;AF_male=0.0804;AF_female=0.0841;AF_raw=0.0822;AF_afr=0.1514;AF_sas=.;AF_amr=0.0427;AF_eas=0.0026;AF_nfe=0.0585;AF_fin=0.0683;AF_asj=0.0448;AF_oth=0.0586;non_topmed_AF_popmax=0.1521;non_neuro_AF_popmax=0.1572;non_cancer_AF_popmax=.;controls_AF_popmax=0.1534;Kaviar_AF=0.0510925;Kaviar_AC=7899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8775724 rs151222758 G A 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=11066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151222758;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0021;AF=0.0009;AF_popmax=0.0059;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0012484;Kaviar_AC=193;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8787164 rs139242554 AAGCGGGTGGCTTCTGTG A 100 PASS AC=27;AF=0.0461262;AN=214;NS=2504;DP=23490;EAS_AF=0.005;AMR_AF=0.0778;AFR_AF=0.0068;EUR_AF=0.1392;SAS_AF=0.0235;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0461262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116840772;CLNALLELEID=40396;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0921;ExAC_nontcga_AFR=0.0236;ExAC_nontcga_AMR=0.0489;ExAC_nontcga_EAS=0.0016;ExAC_nontcga_FIN=0.1301;ExAC_nontcga_NFE=0.1399;ExAC_nontcga_OTH=0.0854;ExAC_nontcga_SAS=0.0298;AF=0.0957;AF_popmax=0.1362;AF_male=0.0946;AF_female=0.0971;AF_raw=0.0959;AF_afr=0.0256;AF_sas=.;AF_amr=0.0686;AF_eas=0.0038;AF_nfe=0.1362;AF_fin=0.1319;AF_asj=0.0759;AF_oth=0.1255;non_topmed_AF_popmax=0.1351;non_neuro_AF_popmax=0.1363;non_cancer_AF_popmax=.;controls_AF_popmax=0.1285;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.069285,98.419569;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8787189 rs57159780 G C 100 PASS AC=10;AF=0.0648962;AN=214;NS=2504;DP=18650;EAS_AF=0.0089;AMR_AF=0.0331;AFR_AF=0.1354;EUR_AF=0.0845;SAS_AF=0.0297;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0648962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57159780;CLNALLELEID=40397;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0891;ExAC_nontcga_ALL=0.0730;ExAC_nontcga_AFR=0.1312;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0039;ExAC_nontcga_FIN=0.1309;ExAC_nontcga_NFE=0.0874;ExAC_nontcga_OTH=0.0738;ExAC_nontcga_SAS=0.0378;AF=0.1003;AF_popmax=0.1309;AF_male=0.0962;AF_female=0.1055;AF_raw=0.1005;AF_afr=0.1309;AF_sas=.;AF_amr=0.0378;AF_eas=0.0103;AF_nfe=0.0933;AF_fin=0.1171;AF_asj=0.0690;AF_oth=0.0875;non_topmed_AF_popmax=0.1302;non_neuro_AF_popmax=0.1392;non_cancer_AF_popmax=.;controls_AF_popmax=0.1436;Kaviar_AF=0.0709823;Kaviar_AC=10974;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.102941::0.333437;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.419569;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8787220 rs13087941 T C 100 PASS AC=38;AF=0.152955;AN=214;NS=2504;DP=18630;EAS_AF=0.0139;AMR_AF=0.1311;AFR_AF=0.2837;EUR_AF=0.2326;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F;1000g2015aug_all=0.152955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13087941;CLNALLELEID=40377;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2410;ExAC_nontcga_ALL=0.1833;ExAC_nontcga_AFR=0.2933;ExAC_nontcga_AMR=0.0827;ExAC_nontcga_EAS=0.0054;ExAC_nontcga_FIN=0.2622;ExAC_nontcga_NFE=0.2366;ExAC_nontcga_OTH=0.1764;ExAC_nontcga_SAS=0.0667;AF=0.2429;AF_popmax=0.2891;AF_male=0.2376;AF_female=0.2495;AF_raw=0.2432;AF_afr=0.2891;AF_sas=.;AF_amr=0.1191;AF_eas=0.0141;AF_nfe=0.2470;AF_fin=0.2550;AF_asj=0.1414;AF_oth=0.2274;non_topmed_AF_popmax=0.2899;non_neuro_AF_popmax=0.2870;non_cancer_AF_popmax=.;controls_AF_popmax=0.2879;Kaviar_AF=0.188866;Kaviar_AC=29199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338850;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8787313 rs116840776 C G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=17961;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C216G:p.C72W,CAV3:NM_033337:exon2:c.C216G:p.C72W;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116840776;CLNALLELEID=23318;CLNDN=Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Rippling_muscle_disease_2|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832560|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.496;Polyphen2_HDIV_rankscore=0.352;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.512;Polyphen2_HVAR_rankscore=0.462;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=2.535;MutationAssessor_score_rankscore=0.741;MutationAssessor_pred=M;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-6.17;PROVEAN_converted_rankscore=0.902;PROVEAN_pred=D;VEST3_score=0.943;VEST3_rankscore=0.957;MetaSVM_score=0.758;MetaSVM_rankscore=0.939;MetaSVM_pred=D;MetaLR_score=0.757;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.496;M-CAP_rankscore=0.951;M-CAP_pred=D;REVEL_score=0.773;REVEL_rankscore=0.925;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.285;CADD_raw_rankscore=0.574;CADD_phred=24.0;DANN_score=0.994;DANN_rankscore=0.638;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.428;integrated_fitCons_score_rankscore=0.059;integrated_confidence_value=0;GERP++_RS=3.76;GERP++_RS_rankscore=0.422;phyloP100way_vertebrate=1.131;phyloP100way_vertebrate_rankscore=0.308;phyloP20way_mammalian=0.042;phyloP20way_mammalian_rankscore=0.156;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.488;SiPhy_29way_logOdds_rankscore=0.494;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.717448;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 8787330 rs72546668 C T 100 PASS AC=4;AF=0.00199681;AN=214;NS=2504;DP=17558;EAS_AF=0;AMR_AF=0;AFR_AF=0.0038;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C233T:p.T78M,CAV3:NM_033337:exon2:c.C233T:p.T78M;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72546668;CLNALLELEID=23332;CLNDN=Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.556;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.738;Polyphen2_HVAR_rankscore=0.538;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.455;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-0.83;PROVEAN_converted_rankscore=0.227;PROVEAN_pred=N;VEST3_score=0.8;VEST3_rankscore=0.789;MetaSVM_score=0.466;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.710;MetaLR_rankscore=0.900;MetaLR_pred=D;M-CAP_score=0.172;M-CAP_rankscore=0.850;M-CAP_pred=D;REVEL_score=0.654;REVEL_rankscore=0.872;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.085;CADD_raw_rankscore=0.548;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.914;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.572;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.304;Eigen-PC-raw=0.261;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.428;integrated_fitCons_score_rankscore=0.059;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=3.783;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.203;SiPhy_29way_logOdds_rankscore=0.818;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0030;AF_popmax=0.0047;AF_male=0.0029;AF_female=0.0031;AF_raw=0.0030;AF_afr=0.0038;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0049;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0028395;Kaviar_AC=439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578455;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12626019 rs3730297 G A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=19661;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon17:c.C1941T:p.V647V;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730297;CLNALLELEID=53790;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0015;AF=0.0065;AF_popmax=0.0094;AF_male=0.0064;AF_female=0.0068;AF_raw=0.0066;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0075;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000252|hsa-miR-7-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.273534;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12626516 rs3729931 G A 100 PASS AC=92;AF=0.364617;AN=214;NS=2504;DP=19622;EAS_AF=0.0575;AMR_AF=0.4683;AFR_AF=0.6475;EUR_AF=0.3767;SAS_AF=0.2127;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.364617;GWAS=rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951;ORegAnno_REGULATORY_P=rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951;avsnp150=rs3729931;CLNALLELEID=49094;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3652;ExAC_nontcga_ALL=0.3479;ExAC_nontcga_AFR=0.6105;ExAC_nontcga_AMR=0.4931;ExAC_nontcga_EAS=0.0552;ExAC_nontcga_FIN=0.3658;ExAC_nontcga_NFE=0.3591;ExAC_nontcga_OTH=0.3631;ExAC_nontcga_SAS=0.1989;AF=0.4170;AF_popmax=0.6012;AF_male=0.4190;AF_female=0.4145;AF_raw=0.4175;AF_afr=0.6012;AF_sas=.;AF_amr=0.4257;AF_eas=0.0450;AF_nfe=0.3588;AF_fin=0.3898;AF_asj=0.3931;AF_oth=0.3915;non_topmed_AF_popmax=0.6003;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6054;Kaviar_AF=0.0021798;Kaviar_AC=337;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.376894::0.235118;Heart_Left_Ventricle=Heart_Left_Ventricle::0.387868::0.177853;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.372492;ALLELE_END GT 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|0 1|1 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 0|0 1|0 0|1 0|0 1|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 +3 12633168 rs2290161 A G 100 PASS AC=8;AF=0.0213658;AN=214;NS=2504;DP=16883;EAS_AF=0.0208;AMR_AF=0.0576;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0245;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2290161;CLNALLELEID=250893;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0119;ExAC_nontcga_ALL=0.0159;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.0260;ExAC_nontcga_FIN=0.0112;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0154;AF=0.0104;AF_popmax=0.0248;AF_male=0.0110;AF_female=0.0096;AF_raw=0.0104;AF_afr=0.0055;AF_sas=.;AF_amr=0.0248;AF_eas=0.0199;AF_nfe=0.0114;AF_fin=0.0109;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.01608;Kaviar_AC=2486;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0170455::-0.80437;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.248269;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +3 12641349 rs5746226 A G 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=18843;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5746226;CLNALLELEID=250894;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0155;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0111;AF=0.0077;AF_popmax=0.0114;AF_male=0.0082;AF_female=0.0071;AF_raw=0.0077;AF_afr=0.0044;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0017;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0105303;Kaviar_AC=1628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12641350 rs5746225 A G 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=18896;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5746225;CLNALLELEID=250895;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0112;AF=0.0077;AF_popmax=0.0114;AF_male=0.0082;AF_female=0.0071;AF_raw=0.0077;AF_afr=0.0044;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0017;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0105367;Kaviar_AC=1629;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12641873 rs200706214 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17313;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200706214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.053672;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12647830 rs3729927 G A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=18598;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729927;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0092;AF=0.0018;AF_popmax=0.0047;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0033893;Kaviar_AC=524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.163209;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12650482 rs2454440 T A 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=20125;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2454440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.949610;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 14166739 rs202159933 G C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=14742;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202159933;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0270;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0055;AF_popmax=0.0047;AF_male=0.0046;AF_female=0.0068;AF_raw=0.0055;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0250;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1777220|N/A|RBL2|PAZAR,OREG1795662|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.808404;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14166813 rs140833608 G C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17515;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140833608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0004;AF_raw=0.0007;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0011142;Kaviar_AC=29;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795662|N/A|RBL2|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.263684;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14166835 rs2733579 C T 100 PASS AC=27;AF=0.245807;AN=214;NS=2504;DP=18369;EAS_AF=0.2183;AMR_AF=0.2594;AFR_AF=0.4508;EUR_AF=0.1282;SAS_AF=0.1084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.245807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2733579;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1956;AF_popmax=0.3941;AF_male=0.2010;AF_female=0.1888;AF_raw=0.1959;AF_afr=0.3941;AF_sas=.;AF_amr=0.1828;AF_eas=0.2265;AF_nfe=0.1160;AF_fin=0.0717;AF_asj=0.1069;AF_oth=0.1241;non_topmed_AF_popmax=0.3946;non_neuro_AF_popmax=0.3885;non_cancer_AF_popmax=.;controls_AF_popmax=0.3870;Kaviar_AF=0.170778;Kaviar_AC=4445;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1811303|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.413950;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 14171082 rs137975239 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=15135;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137975239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0038;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0053;AF_popmax=0.0082;AF_male=0.0048;AF_female=0.0060;AF_raw=0.0053;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0055;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0102;Kaviar_AF=0.0041785;Kaviar_AC=646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.458430;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14172381 rs34099410 C T 100 PASS AC=9;AF=0.00399361;AN=214;NS=2504;DP=18644;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon3:c.C222T:p.P74P;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34099410;CLNALLELEID=55306;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0121;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0014;AF=0.0080;AF_popmax=0.0128;AF_male=0.0081;AF_female=0.0080;AF_raw=0.0081;AF_afr=0.0026;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0032;AF_asj=0.0172;AF_oth=0.0055;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696209;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14172494 rs576324845 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17958;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576324845;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.885e-05;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0028;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14173963 rs4685074 G T 100 PASS AC=54;AF=0.45627;AN=214;NS=2504;DP=18209;EAS_AF=0.6706;AMR_AF=0.5029;AFR_AF=0.4327;EUR_AF=0.2594;SAS_AF=0.4366;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.45627;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685074;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3469;AF_popmax=0.6634;AF_male=0.3474;AF_female=0.3461;AF_raw=0.3472;AF_afr=0.4018;AF_sas=.;AF_amr=0.5059;AF_eas=0.6634;AF_nfe=0.2917;AF_fin=0.2968;AF_asj=0.2414;AF_oth=0.3013;non_topmed_AF_popmax=0.6649;non_neuro_AF_popmax=0.6634;non_cancer_AF_popmax=.;controls_AF_popmax=0.6696;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14174002 rs573490765 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19041;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573490765;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.422e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174146 rs4685075 T C 100 PASS AC=77;AF=0.557308;AN=214;NS=2504;DP=15960;EAS_AF=0.6786;AMR_AF=0.5893;AFR_AF=0.6248;EUR_AF=0.3956;SAS_AF=0.4847;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.557308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4069;ExAC_nontcga_ALL=0.4769;ExAC_nontcga_AFR=0.5796;ExAC_nontcga_AMR=0.6361;ExAC_nontcga_EAS=0.6737;ExAC_nontcga_FIN=0.5079;ExAC_nontcga_NFE=0.3986;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.4640;AF=0.4878;AF_popmax=0.6662;AF_male=0.4853;AF_female=0.4910;AF_raw=0.4876;AF_afr=0.5784;AF_sas=.;AF_amr=0.5908;AF_eas=0.6662;AF_nfe=0.4136;AF_fin=0.5072;AF_asj=0.3690;AF_oth=0.4485;non_topmed_AF_popmax=0.6678;non_neuro_AF_popmax=0.6662;non_cancer_AF_popmax=.;controls_AF_popmax=0.6732;Kaviar_AF=0.457271;Kaviar_AC=70695;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|1 1|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|1 +3 14174170 rs148412226 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15481;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148412226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=6.494e-05;AF_male=0;AF_female=7.188e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174318 rs41284009 G A 100 PASS AC=3;AF=0.00499201;AN=214;NS=2504;DP=16784;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0041;AF=0.0081;AF_popmax=0.0123;AF_male=0.0071;AF_female=0.0094;AF_raw=0.0081;AF_afr=0.0009;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0086;AF_asj=0.0310;AF_oth=0.0138;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0072962;Kaviar_AC=1128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174427 rs4685076 A T 100 PASS AC=53;AF=0.352636;AN=214;NS=2504;DP=18688;EAS_AF=0.4613;AMR_AF=0.366;AFR_AF=0.3026;EUR_AF=0.2545;SAS_AF=0.3998;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon6:c.A504T:p.K168N;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685076;CLNALLELEID=55313;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.219;SIFT_converted_rankscore=0.190;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_rankscore=0.309;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.017;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=P;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.137;MetaSVM_score=-0.896;MetaSVM_rankscore=0.485;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.489;CADD_raw_rankscore=0.360;CADD_phred=19.40;DANN_score=0.994;DANN_rankscore=0.637;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_rankscore=0.442;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.365;Eigen-PC-raw=-0.241;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.425;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=0.923;phyloP100way_vertebrate_rankscore=0.282;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.874;SiPhy_29way_logOdds_rankscore=0.286;Interpro_domain=.;GTEx_V6p_gene=ENSG00000163528.8|ENSG00000163528.8|ENSG00000154767.10|ENSG00000154767.10;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2878;ExAC_nontcga_ALL=0.3251;ExAC_nontcga_AFR=0.2882;ExAC_nontcga_AMR=0.4428;ExAC_nontcga_EAS=0.4342;ExAC_nontcga_FIN=0.3004;ExAC_nontcga_NFE=0.2795;ExAC_nontcga_OTH=0.3559;ExAC_nontcga_SAS=0.3728;AF=0.2966;AF_popmax=0.4343;AF_male=0.294;AF_female=0.2999;AF_raw=0.2966;AF_afr=0.2784;AF_sas=.;AF_amr=0.4222;AF_eas=0.4343;AF_nfe=0.2899;AF_fin=0.2909;AF_asj=0.2414;AF_oth=0.2768;non_topmed_AF_popmax=0.4340;non_neuro_AF_popmax=0.4343;non_cancer_AF_popmax=.;controls_AF_popmax=0.4431;Kaviar_AF=0.31735;Kaviar_AC=49063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.649266;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14174454 rs114026215 G T 100 PASS AC=2;AF=0.00798722;AN=214;NS=2504;DP=19203;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114026215;CLNALLELEID=250964;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0124;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0190;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0057;AF=0.0135;AF_popmax=0.0215;AF_male=0.0131;AF_female=0.0139;AF_raw=0.0135;AF_afr=0.0048;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0089;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0189;non_neuro_AF_popmax=0.0214;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.013842;Kaviar_AC=2140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14175262 rs2340917 T C 100 PASS AC=54;AF=0.463259;AN=214;NS=2504;DP=17856;EAS_AF=0.6756;AMR_AF=0.5058;AFR_AF=0.4508;EUR_AF=0.2624;SAS_AF=0.4376;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon7:c.T536C:p.M179T;1000g2015aug_all=0.463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2340917;CLNALLELEID=55315;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.6;FATHMM_converted_rankscore=0.286;FATHMM_pred=T;PROVEAN_score=2.58;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.146;VEST3_rankscore=0.172;MetaSVM_score=-0.943;MetaSVM_rankscore=0.421;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.428;CADD_raw_rankscore=0.135;CADD_phred=6.855;DANN_score=0.191;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.120;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.967;Eigen-PC-raw=-0.716;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=3.134;phyloP100way_vertebrate_rankscore=0.500;phyloP20way_mammalian=0.040;phyloP20way_mammalian_rankscore=0.155;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.297;phastCons20way_mammalian_rankscore=0.237;SiPhy_29way_logOdds=14.217;SiPhy_29way_logOdds_rankscore=0.652;Interpro_domain=.;GTEx_V6p_gene=ENSG00000163528.8|ENSG00000154767.10|ENSG00000154767.10;GTEx_V6p_tissue=Muscle_Skeletal|Muscle_Skeletal|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2955;ExAC_nontcga_ALL=0.3795;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.5842;ExAC_nontcga_EAS=0.6736;ExAC_nontcga_FIN=0.3161;ExAC_nontcga_NFE=0.2869;ExAC_nontcga_OTH=0.3862;ExAC_nontcga_SAS=0.4090;AF=0.3550;AF_popmax=0.6624;AF_male=0.3561;AF_female=0.3535;AF_raw=0.3552;AF_afr=0.4184;AF_sas=.;AF_amr=0.5083;AF_eas=0.6624;AF_nfe=0.2970;AF_fin=0.3024;AF_asj=0.2414;AF_oth=0.3076;non_topmed_AF_popmax=0.6638;non_neuro_AF_popmax=0.6624;non_cancer_AF_popmax=.;controls_AF_popmax=0.6703;Kaviar_AF=0.366011;Kaviar_AC=56586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.270300;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14176446 rs6766740 G A 100 PASS AC=52;AF=0.350839;AN=214;NS=2504;DP=19582;EAS_AF=0.4583;AMR_AF=0.366;AFR_AF=0.3048;EUR_AF=0.2495;SAS_AF=0.3957;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.350839;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6766740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2919;AF_popmax=0.4311;AF_male=0.2895;AF_female=0.2949;AF_raw=0.2922;AF_afr=0.2785;AF_sas=.;AF_amr=0.4157;AF_eas=0.4311;AF_nfe=0.2821;AF_fin=0.2862;AF_asj=0.2414;AF_oth=0.2745;non_topmed_AF_popmax=0.4306;non_neuro_AF_popmax=0.4311;non_cancer_AF_popmax=.;controls_AF_popmax=0.4350;Kaviar_AF=0.0617909;Kaviar_AC=9553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14177251 rs3796311 G A 100 PASS AC=46;AF=0.201877;AN=214;NS=2504;DP=18378;EAS_AF=0.0556;AMR_AF=0.2363;AFR_AF=0.1974;EUR_AF=0.2187;SAS_AF=0.317;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.201877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3796311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2223;AF_popmax=0.2842;AF_male=0.2212;AF_female=0.2237;AF_raw=0.2225;AF_afr=0.1881;AF_sas=.;AF_amr=0.2842;AF_eas=0.0541;AF_nfe=0.2557;AF_fin=0.2170;AF_asj=0.2379;AF_oth=0.2288;non_topmed_AF_popmax=0.2864;non_neuro_AF_popmax=0.2960;non_cancer_AF_popmax=.;controls_AF_popmax=0.2967;Kaviar_AF=0.0472504;Kaviar_AC=7305;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14177433 rs190262194 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20927;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190262194;CLNALLELEID=189779;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0012;AF=0.0004;AF_popmax=0.0035;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0007956;Kaviar_AC=123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 14180633 rs2731320 C T 100 PASS AC=38;AF=0.0964457;AN=214;NS=2504;DP=20235;EAS_AF=0.002;AMR_AF=0.134;AFR_AF=0.0582;EUR_AF=0.2237;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0964457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2731320;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2149;ExAC_nontcga_ALL=0.1545;ExAC_nontcga_AFR=0.0560;ExAC_nontcga_AMR=0.0960;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.2277;ExAC_nontcga_NFE=0.2118;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.1028;AF=0.1577;AF_popmax=0.2079;AF_male=0.1523;AF_female=0.1644;AF_raw=0.1578;AF_afr=0.0627;AF_sas=.;AF_amr=0.1344;AF_eas=0;AF_nfe=0.2079;AF_fin=0.2330;AF_asj=0.2034;AF_oth=0.1985;non_topmed_AF_popmax=0.2107;non_neuro_AF_popmax=0.2070;non_cancer_AF_popmax=.;controls_AF_popmax=0.2027;Kaviar_AF=0.159856;Kaviar_AC=24714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.189338::-0.181854;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 14180706 rs35100587 C T 100 PASS AC=7;AF=0.0213658;AN=214;NS=2504;DP=20261;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0363;EUR_AF=0.0239;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C909T:p.S303S;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35100587;CLNALLELEID=55319;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.02;ExAC_nontcga_ALL=0.0200;ExAC_nontcga_AFR=0.0284;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0213;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0317;AF=0.0195;AF_popmax=0.0287;AF_male=0.0211;AF_female=0.0175;AF_raw=0.0196;AF_afr=0.0287;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0141;AF_asj=0.0103;AF_oth=0.0147;non_topmed_AF_popmax=0.0284;non_neuro_AF_popmax=0.0284;non_cancer_AF_popmax=.;controls_AF_popmax=0.0296;Kaviar_AF=0.0200838;Kaviar_AC=3105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.493196;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 14180732 rs201543634 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.G935A:p.R312Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201543634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.81;Polyphen2_HVAR_rankscore=0.568;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.785;MutationAssessor_score_rankscore=0.815;MutationAssessor_pred=M;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.973;VEST3_rankscore=0.974;MetaSVM_score=-0.082;MetaSVM_rankscore=0.805;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_rankscore=0.764;MetaLR_pred=T;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.668;REVEL_rankscore=0.878;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.388;CADD_raw_rankscore=0.882;CADD_phred=29.5;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.707;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.732;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.25;GERP++_RS_rankscore=0.731;phyloP100way_vertebrate=9.288;phyloP100way_vertebrate_rankscore=0.950;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=18.856;SiPhy_29way_logOdds_rankscore=0.922;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.462727;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14183326 rs182728261 T C 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=17728;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0184;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TMEM43;GeneDetail.refGene=NM_024334:c.*31T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182728261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0151;ExAC_nontcga_SAS=0.0163;AF=0.0068;AF_popmax=0.0104;AF_male=0.0068;AF_female=0.0067;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0119;non_topmed_AF_popmax=0.0109;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0070245;Kaviar_AC=1086;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.553780;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32148371 rs112562374 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112562374;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001191;Kaviar_AC=31;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000150479|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193921|N/A|TFAP2C|PAZAR,OREG1660415|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.635226;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32169509 rs549227738 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19074;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549227738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275263|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181709 rs113202696 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20469;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113202696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0016;dbscSNV_RF_SCORE=0.084;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.369e-05;AF_popmax=6.48e-05;AF_male=5.722e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 32181710 rs113764055 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20443;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113764055;CLNALLELEID=293879;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=6.484e-05;AF_male=5.723e-05;AF_female=7.185e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 32181725 rs182826539 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.A372G:p.I124M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182826539;CLNALLELEID=293883;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.45;SIFT_converted_rankscore=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_rankscore=0.288;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.16;MutationAssessor_score_rankscore=0.298;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.385;PROVEAN_pred=N;VEST3_score=0.442;VEST3_rankscore=0.588;MetaSVM_score=-1.108;MetaSVM_rankscore=0.032;MetaSVM_pred=T;MetaLR_score=0.114;MetaLR_rankscore=0.405;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.571;M-CAP_pred=D;REVEL_score=0.217;REVEL_rankscore=0.516;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.478;CADD_raw_rankscore=0.359;CADD_phred=19.33;DANN_score=0.640;DANN_rankscore=0.072;fathmm-MKL_coding_score=0.261;fathmm-MKL_coding_rankscore=0.227;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.825;Eigen-PC-raw=-0.842;GenoCanyon_score=0.644;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=-4.57;GERP++_RS_rankscore=0.032;phyloP100way_vertebrate=-0.803;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=1.178;phyloP20way_mammalian_rankscore=0.904;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=4.071;SiPhy_29way_logOdds_rankscore=0.093;Interpro_domain=Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_N-terminal|NAD(P)-binding_domain\x3bNAD(P)-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.591e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=6.373e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.360262;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181761 rs9835387 C T 100 PASS AC=35;AF=0.14976;AN=214;NS=2504;DP=19949;EAS_AF=0.002;AMR_AF=0.1182;AFR_AF=0.2965;EUR_AF=0.1362;SAS_AF=0.1401;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C408T:p.D136D;1000g2015aug_all=0.14976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9835387;CLNALLELEID=251091;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1387;ExAC_nontcga_ALL=0.1281;ExAC_nontcga_AFR=0.3030;ExAC_nontcga_AMR=0.0634;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0851;ExAC_nontcga_NFE=0.1321;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.1410;AF=0.1633;AF_popmax=0.2985;AF_male=0.1655;AF_female=0.1606;AF_raw=0.1637;AF_afr=0.2985;AF_sas=.;AF_amr=0.0853;AF_eas=0.0019;AF_nfe=0.1261;AF_fin=0.0929;AF_asj=0.1724;AF_oth=0.1268;non_topmed_AF_popmax=0.3001;non_neuro_AF_popmax=0.3044;non_cancer_AF_popmax=.;controls_AF_popmax=0.3069;Kaviar_AF=0.129106;Kaviar_AC=19960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.465636;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181798 rs146738300 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C445T:p.L149L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146738300;CLNALLELEID=367106;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1243675|N/A|SMARCA4|PAZAR,OREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.186835;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32188248 rs11351972 GA G 100 PASS AC=4;AF=0.101637;AN=214;NS=2504;DP=19576;EAS_AF=0.1458;AMR_AF=0.0303;AFR_AF=0.1952;EUR_AF=0.0258;SAS_AF=0.0583;AA=A|A|-|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101637;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11351972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0194;ExAC_nontcga_ALL=0.0465;ExAC_nontcga_AFR=0.1787;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0.1457;ExAC_nontcga_FIN=0.0245;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0418;ExAC_nontcga_SAS=0.0489;AF=0.0690;AF_popmax=0.1766;AF_male=0.0700;AF_female=0.0677;AF_raw=0.0692;AF_afr=0.1766;AF_sas=.;AF_amr=0.0318;AF_eas=0.1459;AF_nfe=0.0161;AF_fin=0.0233;AF_asj=0.0172;AF_oth=0.0368;non_topmed_AF_popmax=0.1750;non_neuro_AF_popmax=0.1739;non_cancer_AF_popmax=.;controls_AF_popmax=0.1689;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR,OREG1243677|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.139296;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32200322 rs2305361 T C 100 PASS AC=46;AF=0.479433;AN=214;NS=2504;DP=16860;EAS_AF=0.6022;AMR_AF=0.3617;AFR_AF=0.6036;EUR_AF=0.3091;SAS_AF=0.4438;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.479433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2305361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3065;ExAC_nontcga_ALL=0.4043;ExAC_nontcga_AFR=0.5632;ExAC_nontcga_AMR=0.3880;ExAC_nontcga_EAS=0.6143;ExAC_nontcga_FIN=0.5012;ExAC_nontcga_NFE=0.3365;ExAC_nontcga_OTH=0.3547;ExAC_nontcga_SAS=0.4228;AF=0.4169;AF_popmax=0.6016;AF_male=0.4172;AF_female=0.4165;AF_raw=0.4168;AF_afr=0.5435;AF_sas=.;AF_amr=0.3420;AF_eas=0.6016;AF_nfe=0.3227;AF_fin=0.4729;AF_asj=0.2690;AF_oth=0.3961;non_topmed_AF_popmax=0.5962;non_neuro_AF_popmax=0.6016;non_cancer_AF_popmax=.;controls_AF_popmax=0.6022;Kaviar_AF=0.350979;Kaviar_AC=54262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.28125::-0.506447;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 +3 32200588 rs72552291 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=15073;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon6:c.C839T:p.A280V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72552291;CLNALLELEID=15825;CLNDN=Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001522,MedGen:C1858430|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.832;SIFT_converted_rankscore=0.029;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.368;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_converted_rankscore=0.407;MutationTaster_pred=A;MutationAssessor_score=0.07;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.193;MetaSVM_score=-0.965;MetaSVM_rankscore=0.382;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.376;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.389;M-CAP_pred=T;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.097;CADD_raw_rankscore=0.103;CADD_phred=3.573;DANN_score=0.230;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.546;fathmm-MKL_coding_rankscore=0.294;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.810;Eigen-PC-raw=-0.641;GenoCanyon_score=0.267;GenoCanyon_score_rankscore=0.189;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=1.357;phyloP100way_vertebrate_rankscore=0.335;phyloP20way_mammalian=0.918;phyloP20way_mammalian_rankscore=0.429;phastCons100way_vertebrate=0.983;phastCons100way_vertebrate_rankscore=0.354;phastCons20way_mammalian=0.861;phastCons20way_mammalian_rankscore=0.359;SiPhy_29way_logOdds=9.107;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=6-phosphogluconate_dehydrogenase_C-terminal_domain-like|6-phosphogluconate_dehydrogenase,_domain_2|Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.597e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.373e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.521506;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32201104 rs192905901 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16887;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon7:c.C897T:p.L299L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192905901;CLNALLELEID=509576;CLNDN=Brugada_syndrome|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.553e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352555;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32201123 rs534373652 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon7:c.G916T:p.A306S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534373652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_converted_rankscore=0.290;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.051;Polyphen2_HVAR_rankscore=0.240;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_score_rankscore=0.547;MutationAssessor_pred=M;FATHMM_score=-0.03;FATHMM_converted_rankscore=0.631;FATHMM_pred=T;PROVEAN_score=-0.94;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.517;VEST3_rankscore=0.559;MetaSVM_score=-0.803;MetaSVM_rankscore=0.550;MetaSVM_pred=T;MetaLR_score=0.214;MetaLR_rankscore=0.575;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.529;M-CAP_pred=D;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=0.431;MutPred_rankscore=0.481;CADD_raw=2.083;CADD_raw_rankscore=0.311;CADD_phred=16.74;DANN_score=0.871;DANN_rankscore=0.165;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.823;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.410;Eigen-PC-raw=-0.348;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=7.929;phyloP100way_vertebrate_rankscore=0.870;phyloP20way_mammalian=0.110;phyloP20way_mammalian_rankscore=0.204;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.363;phastCons20way_mammalian_rankscore=0.248;SiPhy_29way_logOdds=14.569;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=6-phosphogluconate_dehydrogenase_C-terminal_domain-like|6-phosphogluconate_dehydrogenase,_domain_2|Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.446e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.912936;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38591847 rs45489199 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16371;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5962G:p.P1988A,SCN5A:NM_001160161:exon27:c.C5854G:p.P1952A,SCN5A:NM_000335:exon28:c.C6013G:p.P2005A,SCN5A:NM_001099404:exon28:c.C6016G:p.P2006A,SCN5A:NM_001160160:exon28:c.C5917G:p.P1973A,SCN5A:NM_198056:exon28:c.C6016G:p.P2006A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45489199;CLNALLELEID=78916;CLNDN=Brugada_syndrome|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4551804,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.597;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.500;LRT_converted_rankscore=0.120;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-3.61;FATHMM_converted_rankscore=0.954;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.266;PROVEAN_pred=N;VEST3_score=0.12;VEST3_rankscore=0.414;MetaSVM_score=-0.357;MetaSVM_rankscore=0.734;MetaSVM_pred=T;MetaLR_score=0.564;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.244;M-CAP_rankscore=0.889;M-CAP_pred=D;REVEL_score=0.284;REVEL_rankscore=0.606;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.385;CADD_raw_rankscore=0.004;CADD_phred=0.001;DANN_score=0.354;DANN_rankscore=0.022;fathmm-MKL_coding_score=0.115;fathmm-MKL_coding_rankscore=0.165;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.032;Eigen-PC-raw=-1.016;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.539;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=-2.61;GERP++_RS_rankscore=0.058;phyloP100way_vertebrate=-0.091;phyloP100way_vertebrate_rankscore=0.110;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.034;phastCons20way_mammalian_rankscore=0.151;SiPhy_29way_logOdds=4.484;SiPhy_29way_logOdds_rankscore=0.111;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0001;AF=0.0012;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0015;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0023;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0026;Kaviar_AF=0.0011384;Kaviar_AC=176;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506234|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.870231;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38591888 rs558904601 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15163;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.G5921C:p.G1974A,SCN5A:NM_001160161:exon27:c.G5813C:p.G1938A,SCN5A:NM_000335:exon28:c.G5972C:p.G1991A,SCN5A:NM_001099404:exon28:c.G5975C:p.G1992A,SCN5A:NM_001160160:exon28:c.G5876C:p.G1959A,SCN5A:NM_198056:exon28:c.G5975C:p.G1992A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558904601;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.679;SIFT_converted_rankscore=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.323;LRT_converted_rankscore=0.041;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-3.64;FATHMM_converted_rankscore=0.955;FATHMM_pred=D;PROVEAN_score=-0.2;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.078;MetaSVM_score=-0.152;MetaSVM_rankscore=0.789;MetaSVM_pred=T;MetaLR_score=0.565;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.112;M-CAP_rankscore=0.790;M-CAP_pred=D;REVEL_score=0.251;REVEL_rankscore=0.565;MutPred_score=0.225;MutPred_rankscore=0.150;CADD_raw=-3.096;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.173;DANN_rankscore=0.005;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.787;Eigen-PC-raw=-1.835;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.539;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=-7.26;GERP++_RS_rankscore=0.013;phyloP100way_vertebrate=-0.280;phyloP100way_vertebrate_rankscore=0.084;phyloP20way_mammalian=-0.734;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.385;phastCons20way_mammalian_rankscore=0.252;SiPhy_29way_logOdds=6.743;SiPhy_29way_logOdds_rankscore=0.225;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.054e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.938e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506234|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.856033;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38592406 rs1805126 A G 100 PASS AC=76;AF=0.492412;AN=214;NS=2504;DP=20365;EAS_AF=0.5784;AMR_AF=0.4265;AFR_AF=0.7042;EUR_AF=0.3648;SAS_AF=0.2955;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D;1000g2015aug_all=0.492412;GWAS=rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857;ORegAnno_REGULATORY_P=rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857;avsnp150=rs1805126;CLNALLELEID=57470;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3336;ExAC_nontcga_ALL=0.3911;ExAC_nontcga_AFR=0.6546;ExAC_nontcga_AMR=0.3933;ExAC_nontcga_EAS=0.5539;ExAC_nontcga_FIN=0.4433;ExAC_nontcga_NFE=0.3357;ExAC_nontcga_OTH=0.4101;ExAC_nontcga_SAS=0.3366;AF=0.4459;AF_popmax=0.6638;AF_male=0.4505;AF_female=0.4400;AF_raw=0.4460;AF_afr=0.6638;AF_sas=.;AF_amr=0.3768;AF_eas=0.5544;AF_nfe=0.3233;AF_fin=0.4407;AF_asj=0.3507;AF_oth=0.3812;non_topmed_AF_popmax=0.6638;non_neuro_AF_popmax=0.6643;non_cancer_AF_popmax=.;controls_AF_popmax=0.6682;Kaviar_AF=0.379568;Kaviar_AC=58682;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.926716;ALLELE_END GT 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 1|0 1|1 1|0 0|0 0|0 +3 38592799 rs145731678 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5010T:p.I1670I,SCN5A:NM_001160161:exon27:c.C4902T:p.I1634I,SCN5A:NM_000335:exon28:c.C5061T:p.I1687I,SCN5A:NM_001099404:exon28:c.C5064T:p.I1688I,SCN5A:NM_001160160:exon28:c.C4965T:p.I1655I,SCN5A:NM_198056:exon28:c.C5064T:p.I1688I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145731678;CLNALLELEID=229046;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.36e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.945261;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38597180 rs45548237 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=15861;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon25:c.C4455T:p.S1485S,SCN5A:NM_001160161:exon25:c.C4347T:p.S1449S,SCN5A:NM_000335:exon26:c.C4506T:p.S1502S,SCN5A:NM_001099404:exon26:c.C4509T:p.S1503S,SCN5A:NM_001160160:exon26:c.C4506T:p.S1502S,SCN5A:NM_198056:exon26:c.C4509T:p.S1503S;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45548237;CLNALLELEID=45424;CLNDN=Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0040;AF_popmax=0.0058;AF_male=0.0034;AF_female=0.0046;AF_raw=0.0039;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0060;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0070;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0030207;Kaviar_AC=467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910864;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38597867 rs41315507 C T 100 PASS AC=30;AF=0.0854633;AN=214;NS=2504;DP=15491;EAS_AF=0;AMR_AF=0.0778;AFR_AF=0.1793;EUR_AF=0.0994;SAS_AF=0.0378;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0854633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315507;CLNALLELEID=519374;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0985;AF_popmax=0.1648;AF_male=0.1017;AF_female=0.0944;AF_raw=0.0985;AF_afr=0.1648;AF_sas=.;AF_amr=0.0613;AF_eas=0.0013;AF_nfe=0.0874;AF_fin=0.0345;AF_asj=0.1793;AF_oth=0.0764;non_topmed_AF_popmax=0.1646;non_neuro_AF_popmax=0.1655;non_cancer_AF_popmax=.;controls_AF_popmax=0.1676;Kaviar_AF=0.0919394;Kaviar_AC=2393;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0719697::0.445183;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.090329;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 +3 38598669 rs41312393 A G 100 PASS AC=12;AF=0.127995;AN=214;NS=2504;DP=16352;EAS_AF=0.2718;AMR_AF=0.0865;AFR_AF=0.1104;EUR_AF=0.0686;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312393;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0597;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0985;AF_popmax=0.3021;AF_male=0.0989;AF_female=0.0979;AF_raw=0.0985;AF_afr=0.1247;AF_sas=.;AF_amr=0.0778;AF_eas=0.3021;AF_nfe=0.0582;AF_fin=0.1272;AF_asj=0.0828;AF_oth=0.0965;non_topmed_AF_popmax=0.3030;non_neuro_AF_popmax=0.3021;non_cancer_AF_popmax=.;controls_AF_popmax=0.2993;Kaviar_AF=0.0150063;Kaviar_AC=2320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.485776;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38601665 rs41311123 C T 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=19733;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G4056A:p.G1352G,SCN5A:NM_000335:exon23:c.G4215A:p.G1405G,SCN5A:NM_001099404:exon23:c.G4218A:p.G1406G,SCN5A:NM_001099405:exon23:c.G4218A:p.G1406G,SCN5A:NM_001160160:exon23:c.G4215A:p.G1405G,SCN5A:NM_198056:exon23:c.G4218A:p.G1406G;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311123;CLNALLELEID=45422;CLNDN=Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0138;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0026;AF=0.0077;AF_popmax=0.0121;AF_male=0.0074;AF_female=0.0081;AF_raw=0.0077;AF_afr=0.0026;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0093;Kaviar_AF=0.0084734;Kaviar_AC=1310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942324;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38601722 rs182293857 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G3999C:p.L1333F,SCN5A:NM_000335:exon23:c.G4158C:p.L1386F,SCN5A:NM_001099404:exon23:c.G4161C:p.L1387F,SCN5A:NM_001099405:exon23:c.G4161C:p.L1387F,SCN5A:NM_001160160:exon23:c.G4158C:p.L1386F,SCN5A:NM_198056:exon23:c.G4161C:p.L1387F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182293857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.157;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.112;LRT_converted_rankscore=0.194;LRT_pred=N;MutationTaster_score=0.970;MutationTaster_converted_rankscore=0.257;MutationTaster_pred=N;MutationAssessor_score=1.675;MutationAssessor_score_rankscore=0.433;MutationAssessor_pred=L;FATHMM_score=-3.9;FATHMM_converted_rankscore=0.962;FATHMM_pred=D;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.379;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.377;MetaSVM_score=0.236;MetaSVM_rankscore=0.865;MetaSVM_pred=D;MetaLR_score=0.788;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=0.117;M-CAP_rankscore=0.797;M-CAP_pred=D;REVEL_score=0.379;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.309;CADD_raw_rankscore=0.222;CADD_phred=12.32;DANN_score=0.983;DANN_rankscore=0.394;fathmm-MKL_coding_score=0.456;fathmm-MKL_coding_rankscore=0.273;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.409;Eigen-PC-raw=-0.311;GenoCanyon_score=0.476;GenoCanyon_score_rankscore=0.207;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.27;GERP++_RS_rankscore=0.364;phyloP100way_vertebrate=1.888;phyloP100way_vertebrate_rankscore=0.391;phyloP20way_mammalian=0.103;phyloP20way_mammalian_rankscore=0.200;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.809;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=9.119;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.642e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.869e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927219;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38603958 rs199473603 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21383;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon21:c.C3749T:p.T1250M,SCN5A:NM_000335:exon22:c.C3908T:p.T1303M,SCN5A:NM_001099404:exon22:c.C3911T:p.T1304M,SCN5A:NM_001099405:exon22:c.C3911T:p.T1304M,SCN5A:NM_001160160:exon22:c.C3908T:p.T1303M,SCN5A:NM_198056:exon22:c.C3911T:p.T1304M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199473603;CLNALLELEID=78729;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.795;MutationAssessor_score_rankscore=0.955;MutationAssessor_pred=H;FATHMM_score=-4.96;FATHMM_converted_rankscore=0.985;FATHMM_pred=D;PROVEAN_score=-5.3;PROVEAN_converted_rankscore=0.858;PROVEAN_pred=D;VEST3_score=0.876;VEST3_rankscore=0.897;MetaSVM_score=1.078;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.973;MetaLR_rankscore=0.991;MetaLR_pred=D;M-CAP_score=0.814;M-CAP_rankscore=0.986;M-CAP_pred=D;REVEL_score=0.924;REVEL_rankscore=0.981;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.635;CADD_raw_rankscore=0.768;CADD_phred=26.6;DANN_score=0.999;DANN_rankscore=0.964;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.862;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.788;Eigen-PC-raw=0.618;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.04;GERP++_RS_rankscore=0.461;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.334;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=16.415;SiPhy_29way_logOdds_rankscore=0.835;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0018;ExAC_nontcga_SAS=0.0001;AF=6.372e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.186e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0070925|N/A|N/A|VistaEnhancers;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.852384;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38618080 rs41312403 A G 100 PASS AC=11;AF=0.0345447;AN=214;NS=2504;DP=19890;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0499;EUR_AF=0.0557;SAS_AF=0.0358;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0345447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0554;AF_popmax=0.0624;AF_male=0.0549;AF_female=0.0560;AF_raw=0.0554;AF_afr=0.0501;AF_sas=.;AF_amr=0.0377;AF_eas=0;AF_nfe=0.0624;AF_fin=0.0673;AF_asj=0.0483;AF_oth=0.0551;non_topmed_AF_popmax=0.0613;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0541;Kaviar_AF=0.0090232;Kaviar_AC=1395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +3 38618142 rs41258454 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=20570;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41258454;CLNALLELEID=45421;CLNDN=Cardiomyopathy|Brugada_syndrome|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0131;ExAC_nontcga_SAS=0.0020;AF=0.0059;AF_popmax=0.0094;AF_male=0.0060;AF_female=0.0057;AF_raw=0.0059;AF_afr=0.0028;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0026;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0054915;Kaviar_AC=849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.883231;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38618342 rs571757961 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19235;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571757961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005379;Kaviar_AC=14;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.382076;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38622467 rs7430407 T C 100 PASS AC=193;AF=0.923123;AN=214;NS=2504;DP=16991;EAS_AF=0.997;AMR_AF=0.9164;AFR_AF=0.8661;EUR_AF=0.9085;SAS_AF=0.9438;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E;1000g2015aug_all=0.923123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7430407;CLNALLELEID=57460;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8830;ExAC_nontcga_ALL=0.9145;ExAC_nontcga_AFR=0.8869;ExAC_nontcga_AMR=0.9549;ExAC_nontcga_EAS=0.9991;ExAC_nontcga_FIN=0.9254;ExAC_nontcga_NFE=0.8887;ExAC_nontcga_OTH=0.9203;ExAC_nontcga_SAS=0.9415;AF=0.9030;AF_popmax=0.9994;AF_male=0.9034;AF_female=0.9026;AF_raw=0.9029;AF_afr=0.8831;AF_sas=.;AF_amr=0.9257;AF_eas=0.9994;AF_nfe=0.8984;AF_fin=0.9261;AF_asj=0.8690;AF_oth=0.9081;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.898106;Kaviar_AC=138849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925456;ALLELE_END GT 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 +3 38622745 rs140967646 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.G2905T:p.G969C,SCN5A:NM_001099404:exon17:c.G2905T:p.G969C,SCN5A:NM_001099405:exon17:c.G2905T:p.G969C,SCN5A:NM_001160160:exon17:c.G2905T:p.G969C,SCN5A:NM_001160161:exon17:c.G2905T:p.G969C,SCN5A:NM_198056:exon17:c.G2905T:p.G969C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140967646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.934;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.443;MutationTaster_pred=D;MutationAssessor_score=3.54;MutationAssessor_score_rankscore=0.933;MutationAssessor_pred=H;FATHMM_score=-2.06;FATHMM_converted_rankscore=0.859;FATHMM_pred=D;PROVEAN_score=-7.32;PROVEAN_converted_rankscore=0.967;PROVEAN_pred=D;VEST3_score=0.777;VEST3_rankscore=0.849;MetaSVM_score=0.779;MetaSVM_rankscore=0.942;MetaSVM_pred=D;MetaLR_score=0.792;MetaLR_rankscore=0.929;MetaLR_pred=D;M-CAP_score=0.516;M-CAP_rankscore=0.954;M-CAP_pred=D;REVEL_score=0.803;REVEL_rankscore=0.937;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.503;CADD_raw_rankscore=0.896;CADD_phred=31;DANN_score=0.998;DANN_rankscore=0.852;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.773;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.826;Eigen-PC-raw=0.737;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.59;GERP++_RS_rankscore=0.561;phyloP100way_vertebrate=7.726;phyloP100way_vertebrate_rankscore=0.837;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.668;phastCons20way_mammalian_rankscore=0.302;SiPhy_29way_logOdds=17.619;SiPhy_29way_logOdds_rankscore=0.879;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.165e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.181e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942508;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 38622868 rs41260344 G A 100 PASS AC=8;AF=0.0323482;AN=214;NS=2504;DP=16709;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0628;EUR_AF=0.0278;SAS_AF=0.0348;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41260344;CLNALLELEID=57459;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0430;ExAC_nontcga_ALL=0.0397;ExAC_nontcga_AFR=0.0627;ExAC_nontcga_AMR=0.0189;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0335;ExAC_nontcga_NFE=0.0448;ExAC_nontcga_OTH=0.0370;ExAC_nontcga_SAS=0.0489;AF=0.0391;AF_popmax=0.0551;AF_male=0.0396;AF_female=0.0386;AF_raw=0.0392;AF_afr=0.0551;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0369;AF_fin=0.0323;AF_asj=0.0310;AF_oth=0.0349;non_topmed_AF_popmax=0.0547;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0328133;Kaviar_AC=5073;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755610;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38627153 rs144423561 G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 100 PASS AC=7,35,52,98;AF=0.0409345,0.211062,0.282748,0.359824;AN=214;NS=2504;DP=21067;EAS_AF=0.0099,0.1161,0.4087,0.4554;AMR_AF=0.0274,0.232,0.2349,0.402;AFR_AF=0.09,0.2852,0.1853,0.1929;EUR_AF=0.0199,0.1809,0.2724,0.4394;SAS_AF=0.0378,0.2249,0.3292,0.3753;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0409345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211062;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.282748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.359824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END GT 2|4 2|3 4|2 3|4 3|4 0|0 2|4 4|2 4|3 3|4 0|0 0|0 0|0 3|4 4|3 0|0 2|3 3|4 4|3 4|3 4|4 0|0 3|4 4|2 2|3 2|3 4|3 2|4 1|2 4|4 3|4 4|3 4|4 0|0 4|4 3|4 4|2 4|4 4|3 3|4 4|2 4|1 3|4 4|2 4|4 3|4 4|3 4|4 4|2 0|4 3|0 4|2 3|3 4|3 4|4 4|3 4|4 3|4 3|4 4|4 4|4 4|4 4|2 4|4 3|4 4|2 1|4 2|2 4|2 4|4 2|3 4|0 2|4 3|4 3|4 4|0 4|4 4|3 3|2 0|2 4|2 3|4 4|3 3|4 4|4 2|0 1|3 2|4 3|3 1|4 1|2 2|3 2|4 4|2 4|3 3|4 4|3 4|3 3|4 4|3 2|4 0|0 2|1 4|2 4|3 3|4 4|3 +3 38627537 rs72549411 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549411;CLNALLELEID=142757;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.301e-05;AF=0.0005;AF_popmax=0.0010;AF_male=0.0006;AF_female=0.0003;AF_raw=0.0005;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.883128;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38628851 rs546353744 A AC 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19435;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311519;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0067;ExAC_nontcga_SAS=0.0021;AF=0.0023;AF_popmax=0.0042;AF_male=0.0026;AF_female=0.0020;AF_raw=0.0024;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.598871;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38628879 rs41312419 C T 100 PASS AC=5;AF=0.00239617;AN=214;NS=2504;DP=20103;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312419;CLNALLELEID=45419;CLNDN=Cardiomyopathy|Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0031;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0056;ExAC_nontcga_SAS=9.577e-05;AF=0.0026;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0029;AF_asj=0.0241;AF_oth=0.0028;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029948;Kaviar_AC=463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.719204;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 38640536 rs201037918 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18959;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon13:c.G1896A:p.T632T,SCN5A:NM_001099404:exon13:c.G1896A:p.T632T,SCN5A:NM_001099405:exon13:c.G1896A:p.T632T,SCN5A:NM_001160160:exon13:c.G1896A:p.T632T,SCN5A:NM_001160161:exon13:c.G1896A:p.T632T,SCN5A:NM_198056:exon13:c.G1896A:p.T632T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201037918;CLNALLELEID=519221;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.054e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.949e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937040;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38645420 rs1805124 T C 100 PASS AC=50;AF=0.230431;AN=214;NS=2504;DP=17254;EAS_AF=0.1012;AMR_AF=0.2277;AFR_AF=0.3094;EUR_AF=0.2167;SAS_AF=0.273;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R;1000g2015aug_all=0.230431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.304;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=P;MutationAssessor_score=-2.58;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=3.92;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.349;MetaSVM_score=-0.924;MetaSVM_rankscore=0.450;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.102;CADD_raw_rankscore=0.028;CADD_phred=0.010;DANN_score=0.286;DANN_rankscore=0.015;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.528;Eigen-PC-raw=-1.240;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.368;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.44;GERP++_RS_rankscore=0.287;phyloP100way_vertebrate=1.276;phyloP100way_vertebrate_rankscore=0.325;phyloP20way_mammalian=-1.897;phyloP20way_mammalian_rankscore=0.006;phastCons100way_vertebrate=0.956;phastCons100way_vertebrate_rankscore=0.331;phastCons20way_mammalian=0.751;phastCons20way_mammalian_rankscore=0.322;SiPhy_29way_logOdds=15.575;SiPhy_29way_logOdds_rankscore=0.760;Interpro_domain=Voltage-gated_Na+_ion_channel,_cytoplasmic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2321;ExAC_nontcga_ALL=0.2198;ExAC_nontcga_AFR=0.2877;ExAC_nontcga_AMR=0.2132;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2024;ExAC_nontcga_NFE=0.2219;ExAC_nontcga_OTH=0.2070;ExAC_nontcga_SAS=0.2484;AF=0.2451;AF_popmax=0.2947;AF_male=0.2472;AF_female=0.2425;AF_raw=0.2453;AF_afr=0.2947;AF_sas=.;AF_amr=0.2276;AF_eas=0.1055;AF_nfe=0.2462;AF_fin=0.1942;AF_asj=0.2241;AF_oth=0.2155;non_topmed_AF_popmax=0.2948;non_neuro_AF_popmax=0.3018;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.219577;Kaviar_AC=33947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875248;ALLELE_END GT 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38645506 rs45624133 A G 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18694;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.T1587C:p.I529I,SCN5A:NM_001099404:exon12:c.T1587C:p.I529I,SCN5A:NM_001099405:exon12:c.T1587C:p.I529I,SCN5A:NM_001160160:exon12:c.T1587C:p.I529I,SCN5A:NM_001160161:exon12:c.T1587C:p.I529I,SCN5A:NM_198056:exon12:c.T1587C:p.I529I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45624133;CLNALLELEID=57451;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0151;ExAC_nontcga_NFE=0.0088;ExAC_nontcga_OTH=0.0093;ExAC_nontcga_SAS=0.0012;AF=0.0049;AF_popmax=0.0058;AF_male=0.0047;AF_female=0.0051;AF_raw=0.0049;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0112;AF_asj=0.0069;AF_oth=0.0065;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911414;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38645516 rs45627438 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19081;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.G1577A:p.R526H,SCN5A:NM_001099404:exon12:c.G1577A:p.R526H,SCN5A:NM_001099405:exon12:c.G1577A:p.R526H,SCN5A:NM_001160160:exon12:c.G1577A:p.R526H,SCN5A:NM_001160161:exon12:c.G1577A:p.R526H,SCN5A:NM_198056:exon12:c.G1577A:p.R526H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45627438;CLNALLELEID=78563;CLNDN=Brugada_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.46;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.451;LRT_converted_rankscore=0.125;LRT_pred=N;MutationTaster_score=0.959;MutationTaster_converted_rankscore=0.381;MutationTaster_pred=D;MutationAssessor_score=0.08;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=-3.06;FATHMM_converted_rankscore=0.925;FATHMM_pred=D;PROVEAN_score=-0.94;PROVEAN_converted_rankscore=0.373;PROVEAN_pred=N;VEST3_score=0.264;VEST3_rankscore=0.601;MetaSVM_score=-0.541;MetaSVM_rankscore=0.672;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_rankscore=0.799;MetaLR_pred=T;M-CAP_score=0.244;M-CAP_rankscore=0.889;M-CAP_pred=D;REVEL_score=0.476;REVEL_rankscore=0.771;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.390;CADD_raw_rankscore=0.348;CADD_phred=18.75;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.462;fathmm-MKL_coding_rankscore=0.275;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.609;Eigen-PC-raw=-0.489;GenoCanyon_score=0.986;GenoCanyon_score_rankscore=0.309;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=1.72;GERP++_RS_rankscore=0.234;phyloP100way_vertebrate=0.955;phyloP100way_vertebrate_rankscore=0.286;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.493;phastCons100way_vertebrate_rankscore=0.267;phastCons20way_mammalian=0.861;phastCons20way_mammalian_rankscore=0.359;SiPhy_29way_logOdds=5.896;SiPhy_29way_logOdds_rankscore=0.181;Interpro_domain=Voltage-gated_Na+_ion_channel,_cytoplasmic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.644e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.131e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=5.725e-05;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902378;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38646423 rs7428779 C T 100 PASS AC=42;AF=0.17512;AN=214;NS=2504;DP=20143;EAS_AF=0.0972;AMR_AF=0.2003;AFR_AF=0.1641;EUR_AF=0.1889;SAS_AF=0.2382;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.17512;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7428779;CLNALLELEID=251108;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1935;ExAC_nontcga_ALL=0.2187;ExAC_nontcga_AFR=0.1888;ExAC_nontcga_AMR=0.2472;ExAC_nontcga_EAS=0.1173;ExAC_nontcga_FIN=0.2094;ExAC_nontcga_NFE=0.2262;ExAC_nontcga_OTH=0.1941;ExAC_nontcga_SAS=0.2384;AF=0.1912;AF_popmax=0.2161;AF_male=0.1917;AF_female=0.1906;AF_raw=0.1913;AF_afr=0.1737;AF_sas=.;AF_amr=0.1986;AF_eas=0.0951;AF_nfe=0.2161;AF_fin=0.1695;AF_asj=0.1793;AF_oth=0.1842;non_topmed_AF_popmax=0.2146;non_neuro_AF_popmax=0.2187;non_cancer_AF_popmax=.;controls_AF_popmax=0.2360;Kaviar_AF=0.170586;Kaviar_AC=26373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.472926;ALLELE_END GT 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38647642 rs41312433 G T 100 PASS AC=42;AF=0.151158;AN=214;NS=2504;DP=20769;EAS_AF=0.0972;AMR_AF=0.1859;AFR_AF=0.121;EUR_AF=0.1799;SAS_AF=0.1933;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.151158;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312433;CLNALLELEID=57444;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9992;dbscSNV_RF_SCORE=0.79;esp6500siv2_ea=0.1850;ExAC_nontcga_ALL=0.1697;ExAC_nontcga_AFR=0.1242;ExAC_nontcga_AMR=0.1835;ExAC_nontcga_EAS=0.0929;ExAC_nontcga_FIN=0.1792;ExAC_nontcga_NFE=0.1811;ExAC_nontcga_OTH=0.1740;ExAC_nontcga_SAS=0.1784;AF=0.1743;AF_popmax=0.2081;AF_male=0.1731;AF_female=0.1758;AF_raw=0.1745;AF_afr=0.1286;AF_sas=.;AF_amr=0.1832;AF_eas=0.1022;AF_nfe=0.2081;AF_fin=0.1684;AF_asj=0.1724;AF_oth=0.1774;non_topmed_AF_popmax=0.2073;non_neuro_AF_popmax=0.2109;non_cancer_AF_popmax=.;controls_AF_popmax=0.2313;Kaviar_AF=0.169442;Kaviar_AC=26196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.803424;ALLELE_END GT 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38649621 rs572354321 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18176;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572354321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.684e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.187e-05;AF_popmax=.;AF_male=5.727e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.063805;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38651442 rs41285129 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=17600;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon7:c.C717T:p.I239I,SCN5A:NM_001099404:exon7:c.C717T:p.I239I,SCN5A:NM_001099405:exon7:c.C717T:p.I239I,SCN5A:NM_001160160:exon7:c.C717T:p.I239I,SCN5A:NM_001160161:exon7:c.C717T:p.I239I,SCN5A:NM_198056:exon7:c.C717T:p.I239I;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285129;CLNALLELEID=57479;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0118;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0040;AF_popmax=0.0044;AF_male=0.0037;AF_female=0.0044;AF_raw=0.0040;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0112;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0039715;Kaviar_AC=614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944546;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655354 rs189959378 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18969;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189959378;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.174e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.445e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915269;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655358 rs142957424 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655643 rs9856587 C T 100 PASS 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GT 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 +3 38662276 rs555537501 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38662310 rs371006440 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671768 rs41312963 G T 100 PASS AC=10;AF=0.0465256;AN=214;NS=2504;DP=17184;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1036;EUR_AF=0.0288;SAS_AF=0.0511;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0465256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312963;CLNALLELEID=251109;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0368;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.0860;ExAC_nontcga_AMR=0.0144;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0335;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0506;AF=0.0418;AF_popmax=0.0767;AF_male=0.0439;AF_female=0.0391;AF_raw=0.0418;AF_afr=0.0767;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0316;AF_fin=0.0262;AF_asj=0.0552;AF_oth=0.0295;non_topmed_AF_popmax=0.0765;non_neuro_AF_popmax=0.0767;non_cancer_AF_popmax=.;controls_AF_popmax=0.0750;Kaviar_AF=0.0350125;Kaviar_AC=5413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671840 rs45533640 G A 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=19295;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon3:c.C354T:p.H118H,SCN5A:NM_001099404:exon3:c.C354T:p.H118H,SCN5A:NM_001099405:exon3:c.C354T:p.H118H,SCN5A:NM_001160160:exon3:c.C354T:p.H118H,SCN5A:NM_001160161:exon3:c.C354T:p.H118H,SCN5A:NM_198056:exon3:c.C354T:p.H118H;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533640;CLNALLELEID=57464;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0180;AF=0.0021;AF_popmax=0.0033;AF_male=0.0021;AF_female=0.0020;AF_raw=0.0021;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0009;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885377;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671944 rs7627488 G A 100 PASS AC=2;AF=0.0644968;AN=214;NS=2504;DP=19531;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1944;EUR_AF=0.0179;SAS_AF=0.0317;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0644968;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7627488;CLNALLELEID=489880;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0175;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.1798;ExAC_nontcga_AMR=0.0135;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0239;ExAC_nontcga_NFE=0.0180;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0450;AF=0.0611;AF_popmax=0.1737;AF_male=0.0622;AF_female=0.0597;AF_raw=0.0615;AF_afr=0.1737;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0222;AF_asj=0.0103;AF_oth=0.0267;non_topmed_AF_popmax=0.1730;non_neuro_AF_popmax=0.1679;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.0311833;Kaviar_AC=4821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.466462;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674475 rs41261744 C T 100 PASS AC=11;AF=0.0385383;AN=214;NS=2504;DP=17342;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0.0613;EUR_AF=0.0398;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41261744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0377;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0351;AF_popmax=0.0534;AF_male=0.0372;AF_female=0.0324;AF_raw=0.0352;AF_afr=0.0534;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0351;AF_fin=0.0112;AF_asj=0.0345;AF_oth=0.0261;non_topmed_AF_popmax=0.0530;non_neuro_AF_popmax=0.0509;non_cancer_AF_popmax=.;controls_AF_popmax=0.0494;Kaviar_AF=0.0076454;Kaviar_AC=1182;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.510145;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674652 rs190996208 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=15796;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.G147A:p.E49E,SCN5A:NM_001099404:exon2:c.G147A:p.E49E,SCN5A:NM_001099405:exon2:c.G147A:p.E49E,SCN5A:NM_001160160:exon2:c.G147A:p.E49E,SCN5A:NM_001160161:exon2:c.G147A:p.E49E,SCN5A:NM_198056:exon2:c.G147A:p.E49E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190996208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.945e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.786e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.922518;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674712 rs6599230 T C 100 PASS AC=178;AF=0.781749;AN=214;NS=2504;DP=17646;EAS_AF=0.6677;AMR_AF=0.719;AFR_AF=0.9228;EUR_AF=0.7883;SAS_AF=0.7464;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A;1000g2015aug_all=0.781749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599230;CLNALLELEID=57481;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8072;ExAC_nontcga_ALL=0.7703;ExAC_nontcga_AFR=0.8936;ExAC_nontcga_AMR=0.7188;ExAC_nontcga_EAS=0.6917;ExAC_nontcga_FIN=0.6934;ExAC_nontcga_NFE=0.7891;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7488;AF=0.7960;AF_popmax=0.8946;AF_male=0.7986;AF_female=0.7929;AF_raw=0.7956;AF_afr=0.8946;AF_sas=.;AF_amr=0.7288;AF_eas=0.7003;AF_nfe=0.7795;AF_fin=0.6961;AF_asj=0.7552;AF_oth=0.7615;non_topmed_AF_popmax=0.8949;non_neuro_AF_popmax=0.8965;non_cancer_AF_popmax=.;controls_AF_popmax=0.8930;Kaviar_AF=0.763852;Kaviar_AC=118093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.922640;ALLELE_END GT 1|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 +3 38739353 rs188413410 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20415;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C5064T:p.I1688I,SCN10A:NM_001293306:exon27:c.C5355T:p.I1785I,SCN10A:NM_006514:exon27:c.C5358T:p.I1786I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188413410;CLNALLELEID=367530;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.634544;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739455 rs138532656 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20040;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4962T:p.D1654D,SCN10A:NM_001293306:exon27:c.C5253T:p.D1751D,SCN10A:NM_006514:exon27:c.C5256T:p.D1752D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138532656;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788227;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739494 rs116353929 G A 100 PASS AC=5;AF=0.014377;AN=214;NS=2504;DP=20713;EAS_AF=0.001;AMR_AF=0.0288;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4923T:p.D1641D,SCN10A:NM_001293306:exon27:c.C5214T:p.D1738D,SCN10A:NM_006514:exon27:c.C5217T:p.D1739D;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116353929;CLNALLELEID=239216;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0047;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0239;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0286;AF=0.0229;AF_popmax=0.0389;AF_male=0.0232;AF_female=0.0225;AF_raw=0.0230;AF_afr=0.0069;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0333;AF_fin=0.0233;AF_asj=0.0138;AF_oth=0.0257;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0256077;Kaviar_AC=3959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.780425;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739574 rs6599241 T C 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=22015;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599241;CLNALLELEID=251110;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.247;MutationTaster_pred=P;MutationAssessor_score=-2.12;MutationAssessor_score_rankscore=0.002;MutationAssessor_pred=N;FATHMM_score=-4.81;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=2.78;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.309;VEST3_rankscore=0.370;MetaSVM_score=-0.898;MetaSVM_rankscore=0.482;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.353;REVEL_rankscore=0.678;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.227;CADD_raw_rankscore=0.116;CADD_phred=4.957;DANN_score=0.457;DANN_rankscore=0.036;fathmm-MKL_coding_score=0.235;fathmm-MKL_coding_rankscore=0.219;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.691;Eigen-PC-raw=-0.345;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=6.180;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=14.472;SiPhy_29way_logOdds_rankscore=0.670;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938267;Kaviar_AC=145058;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865245;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 38739622 rs77804526 C T 100 PASS AC=4;AF=0.00638978;AN=214;NS=2504;DP=20858;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4795A:p.V1599I,SCN10A:NM_001293306:exon27:c.G5086A:p.V1696I,SCN10A:NM_006514:exon27:c.G5089A:p.V1697I;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77804526;CLNALLELEID=239217;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.245;SIFT_converted_rankscore=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_rankscore=0.178;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.306;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_converted_rankscore=0.208;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.017;MetaSVM_score=-0.027;MetaSVM_rankscore=0.817;MetaSVM_pred=T;MetaLR_score=0.627;MetaLR_rankscore=0.869;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.274;CADD_raw_rankscore=0.120;CADD_phred=5.435;DANN_score=0.701;DANN_rankscore=0.089;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_rankscore=0.115;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.002;Eigen-PC-raw=-0.948;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.097;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=0.236;GERP++_RS_rankscore=0.147;phyloP100way_vertebrate=-0.352;phyloP100way_vertebrate_rankscore=0.077;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.798;phastCons20way_mammalian_rankscore=0.336;SiPhy_29way_logOdds=3.277;SiPhy_29way_logOdds_rankscore=0.064;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0137;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0145;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0242;AF=0.0085;AF_popmax=0.0136;AF_male=0.0088;AF_female=0.0082;AF_raw=0.0086;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0040;AF_asj=0.0207;AF_oth=0.0083;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0119468;Kaviar_AC=1847;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.729685;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38739845 rs6599242 A G 100 PASS AC=201;AF=0.92472;AN=214;NS=2504;DP=21262;EAS_AF=0.9514;AMR_AF=0.9121;AFR_AF=0.969;EUR_AF=0.9125;SAS_AF=0.8589;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S;1000g2015aug_all=0.92472;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599242;CLNALLELEID=101303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9151;ExAC_nontcga_ALL=0.9192;ExAC_nontcga_AFR=0.9604;ExAC_nontcga_AMR=0.9184;ExAC_nontcga_EAS=0.9709;ExAC_nontcga_FIN=0.9342;ExAC_nontcga_NFE=0.9179;ExAC_nontcga_OTH=0.9265;ExAC_nontcga_SAS=0.8702;AF=0.9325;AF_popmax=0.9699;AF_male=0.9326;AF_female=0.9323;AF_raw=0.9324;AF_afr=0.9638;AF_sas=.;AF_amr=0.9078;AF_eas=0.9699;AF_nfe=0.9126;AF_fin=0.9378;AF_asj=0.9271;AF_oth=0.9136;non_topmed_AF_popmax=0.9691;non_neuro_AF_popmax=0.9699;non_cancer_AF_popmax=.;controls_AF_popmax=0.9705;Kaviar_AF=0.910105;Kaviar_AC=140704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900556;ALLELE_END GT 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 +3 38740001 rs78425180 C T 100 PASS AC=4;AF=0.0579073;AN=214;NS=2504;DP=21415;EAS_AF=0.2044;AMR_AF=0.0648;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4416A:p.T1472T,SCN10A:NM_001293306:exon27:c.G4707A:p.T1569T,SCN10A:NM_006514:exon27:c.G4710A:p.T1570T;1000g2015aug_all=0.0579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78425180;CLNALLELEID=101302;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0142;ExAC_nontcga_ALL=0.0387;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0913;ExAC_nontcga_EAS=0.2147;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0296;AF=0.0212;AF_popmax=0.2077;AF_male=0.0238;AF_female=0.0178;AF_raw=0.0212;AF_afr=0.0037;AF_sas=.;AF_amr=0.0626;AF_eas=0.2077;AF_nfe=0.0141;AF_fin=0.0052;AF_asj=0.0207;AF_oth=0.0120;non_topmed_AF_popmax=0.2056;non_neuro_AF_popmax=0.2077;non_cancer_AF_popmax=.;controls_AF_popmax=0.2162;Kaviar_AF=0.0356852;Kaviar_AC=5517;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.325116;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38743314 rs115824540 G A 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=20309;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0166;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115824540;CLNALLELEID=500483;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=0.0043;AF_popmax=0.0150;AF_male=0.0043;AF_female=0.0043;AF_raw=0.0043;AF_afr=0.0150;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0147;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38743571 rs144944369 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon25:c.C4122T:p.I1374I,SCN10A:NM_001293306:exon26:c.C4413T:p.I1471I,SCN10A:NM_006514:exon26:c.C4416T:p.I1472I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144944369;CLNALLELEID=393570;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0027;AF_popmax=0.0042;AF_male=0.0025;AF_female=0.0029;AF_raw=0.0027;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0056;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483915;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38743629 rs189453271 G A 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=22521;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189453271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0007;AF=0.0045;AF_popmax=0.0094;AF_male=0.0046;AF_female=0.0044;AF_raw=0.0045;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0020;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38748833 rs6790627 T C 100 PASS AC=39;AF=0.242412;AN=214;NS=2504;DP=19164;EAS_AF=0.3115;AMR_AF=0.2104;AFR_AF=0.3578;EUR_AF=0.1571;SAS_AF=0.1258;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon24:c.A4029G:p.K1343K,SCN10A:NM_001293306:exon25:c.A4320G:p.K1440K,SCN10A:NM_006514:exon25:c.A4323G:p.K1441K;1000g2015aug_all=0.242412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6790627;CLNALLELEID=367531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1430;ExAC_nontcga_ALL=0.1793;ExAC_nontcga_AFR=0.3415;ExAC_nontcga_AMR=0.2594;ExAC_nontcga_EAS=0.3323;ExAC_nontcga_FIN=0.0771;ExAC_nontcga_NFE=0.1379;ExAC_nontcga_OTH=0.1369;ExAC_nontcga_SAS=0.1419;AF=0.2001;AF_popmax=0.3356;AF_male=0.2050;AF_female=0.1940;AF_raw=0.2006;AF_afr=0.3356;AF_sas=.;AF_amr=0.2128;AF_eas=0.3295;AF_nfe=0.1390;AF_fin=0.0921;AF_asj=0.1793;AF_oth=0.1397;non_topmed_AF_popmax=0.3366;non_neuro_AF_popmax=0.3295;non_cancer_AF_popmax=.;controls_AF_popmax=0.3429;Kaviar_AF=0.174959;Kaviar_AC=27049;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.480955;ALLELE_END GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 +3 38748883 rs202063632 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202063632;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.405637;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38752386 rs139436496 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon22:c.A3798C:p.A1266A,SCN10A:NM_001293306:exon23:c.A4089C:p.A1363A,SCN10A:NM_006514:exon23:c.A4092C:p.A1364A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139436496;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.042e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.034e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.769075;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38753977 rs6781740 C T 100 PASS AC=60;AF=0.251997;AN=214;NS=2504;DP=18374;EAS_AF=0.375;AMR_AF=0.1282;AFR_AF=0.2383;EUR_AF=0.2445;SAS_AF=0.2393;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6781740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2617;ExAC_nontcga_ALL=0.2580;ExAC_nontcga_AFR=0.2451;ExAC_nontcga_AMR=0.1142;ExAC_nontcga_EAS=0.4015;ExAC_nontcga_FIN=0.2759;ExAC_nontcga_NFE=0.2707;ExAC_nontcga_OTH=0.2729;ExAC_nontcga_SAS=0.2437;AF=0.2652;AF_popmax=0.4037;AF_male=0.2658;AF_female=0.2644;AF_raw=0.2654;AF_afr=0.2477;AF_sas=.;AF_amr=0.1321;AF_eas=0.4037;AF_nfe=0.2678;AF_fin=0.2625;AF_asj=0.3138;AF_oth=0.2702;non_topmed_AF_popmax=0.4033;non_neuro_AF_popmax=0.4037;non_cancer_AF_popmax=.;controls_AF_popmax=0.4033;Kaviar_AF=0.24609;Kaviar_AC=38046;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38755505 rs202134330 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18237;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SCN10A:NM_001293307:exon20:c.C3454T:p.R1152X,SCN10A:NM_001293306:exon21:c.C3745T:p.R1249X,SCN10A:NM_006514:exon21:c.C3748T:p.R1250X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202134330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.990;CADD_raw_rankscore=0.979;CADD_phred=38;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.842;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.320;GenoCanyon_score=0.216;GenoCanyon_score_rankscore=0.183;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.3;GERP++_RS_rankscore=0.368;phyloP100way_vertebrate=2.143;phyloP100way_vertebrate_rankscore=0.416;phyloP20way_mammalian=0.978;phyloP20way_mammalian_rankscore=0.596;phastCons100way_vertebrate=0.992;phastCons100way_vertebrate_rankscore=0.373;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=12.197;SiPhy_29way_logOdds_rankscore=0.534;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338287;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38755637 rs6793226 A G 100 PASS AC=1;AF=0.0740815;AN=214;NS=2504;DP=17154;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.2519;EUR_AF=0.0169;SAS_AF=0.0102;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0740815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6793226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0696;AF_popmax=0.2223;AF_male=0.0718;AF_female=0.0668;AF_raw=0.0697;AF_afr=0.2223;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0132;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0184;non_topmed_AF_popmax=0.2225;non_neuro_AF_popmax=0.2232;non_cancer_AF_popmax=.;controls_AF_popmax=0.2298;Kaviar_AF=0.005595;Kaviar_AC=865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38763863 rs6771157 G C 100 PASS AC=61;AF=0.219649;AN=214;NS=2504;DP=20313;EAS_AF=0.376;AMR_AF=0.121;AFR_AF=0.121;EUR_AF=0.2465;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T;1000g2015aug_all=0.219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6771157;CLNALLELEID=251111;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2602;ExAC_nontcga_ALL=0.2441;ExAC_nontcga_AFR=0.1385;ExAC_nontcga_AMR=0.1087;ExAC_nontcga_EAS=0.3971;ExAC_nontcga_FIN=0.2743;ExAC_nontcga_NFE=0.2679;ExAC_nontcga_OTH=0.2666;ExAC_nontcga_SAS=0.2297;AF=0.2342;AF_popmax=0.4037;AF_male=0.2349;AF_female=0.2333;AF_raw=0.2343;AF_afr=0.1390;AF_sas=.;AF_amr=0.1229;AF_eas=0.4037;AF_nfe=0.2670;AF_fin=0.2627;AF_asj=0.3034;AF_oth=0.2634;non_topmed_AF_popmax=0.4033;non_neuro_AF_popmax=0.4037;non_cancer_AF_popmax=.;controls_AF_popmax=0.4028;Kaviar_AF=0.239654;Kaviar_AC=37051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.433880;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38764998 rs12632942 A G 100 PASS AC=61;AF=0.219649;AN=214;NS=2504;DP=19013;EAS_AF=0.376;AMR_AF=0.121;AFR_AF=0.121;EUR_AF=0.2465;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon17:c.T2981C:p.L994P,SCN10A:NM_001293306:exon18:c.T3272C:p.L1091P,SCN10A:NM_006514:exon18:c.T3275C:p.L1092P;1000g2015aug_all=0.219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12632942;CLNALLELEID=251112;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.604;SIFT_converted_rankscore=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.394;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=-0.72;MutationAssessor_score_rankscore=0.018;MutationAssessor_pred=N;FATHMM_score=-1.72;FATHMM_converted_rankscore=0.833;FATHMM_pred=D;PROVEAN_score=3.19;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.997;MetaSVM_rankscore=0.308;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.961;CADD_raw_rankscore=0.186;CADD_phred=10.43;DANN_score=0.836;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.029;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.229;Eigen-PC-raw=-1.185;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-0.53;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=-0.776;phyloP100way_vertebrate_rankscore=0.047;phyloP20way_mammalian=-0.231;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=11.785;SiPhy_29way_logOdds_rankscore=0.511;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.26;ExAC_nontcga_ALL=0.2826;ExAC_nontcga_AFR=0.1607;ExAC_nontcga_AMR=0.1448;ExAC_nontcga_EAS=0.4402;ExAC_nontcga_FIN=0.3188;ExAC_nontcga_NFE=0.3097;ExAC_nontcga_OTH=0.3010;ExAC_nontcga_SAS=0.2527;AF=0.2344;AF_popmax=0.4045;AF_male=0.2352;AF_female=0.2333;AF_raw=0.2343;AF_afr=0.1398;AF_sas=.;AF_amr=0.1241;AF_eas=0.4045;AF_nfe=0.2672;AF_fin=0.2628;AF_asj=0.3034;AF_oth=0.2616;non_topmed_AF_popmax=0.4036;non_neuro_AF_popmax=0.4045;non_cancer_AF_popmax=.;controls_AF_popmax=0.4035;Kaviar_AF=0.237862;Kaviar_AC=36774;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.271556;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38765075 rs138746965 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138746965;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=3.185e-05;AF_popmax=.;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.395093;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38766675 rs6795970 A G 100 PASS AC=130;AF=0.757987;AN=214;NS=2504;DP=19128;EAS_AF=0.8194;AMR_AF=0.6441;AFR_AF=0.9478;EUR_AF=0.5905;SAS_AF=0.6912;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A;1000g2015aug_all=0.757987;GWAS=rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063;ORegAnno_REGULATORY_P=rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063;avsnp150=rs6795970;CLNALLELEID=251113;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-3.69;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.004;VEST3_rankscore=0.003;MetaSVM_score=-0.912;MetaSVM_rankscore=0.467;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.211;REVEL_rankscore=0.507;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.943;CADD_raw_rankscore=0.034;CADD_phred=0.021;DANN_score=0.538;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.017;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.612;Eigen-PC-raw=-1.642;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-4.56;GERP++_RS_rankscore=0.032;phyloP100way_vertebrate=-1.044;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=-0.733;phyloP20way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=0.783;SiPhy_29way_logOdds_rankscore=0.010;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6019;ExAC_nontcga_ALL=0.6619;ExAC_nontcga_AFR=0.9099;ExAC_nontcga_AMR=0.6798;ExAC_nontcga_EAS=0.8451;ExAC_nontcga_FIN=0.5514;ExAC_nontcga_NFE=0.6060;ExAC_nontcga_OTH=0.6134;ExAC_nontcga_SAS=0.6560;AF=0.7044;AF_popmax=0.9118;AF_male=0.7118;AF_female=0.6950;AF_raw=0.7040;AF_afr=0.9118;AF_sas=.;AF_amr=0.6856;AF_eas=0.8671;AF_nfe=0.6172;AF_fin=0.5317;AF_asj=0.6103;AF_oth=0.6351;non_topmed_AF_popmax=0.9118;non_neuro_AF_popmax=0.9186;non_cancer_AF_popmax=.;controls_AF_popmax=0.9229;Kaviar_AF=0.648258;Kaviar_AC=100222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.896503;ALLELE_END GT 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 +3 38766701 rs6791171 C T 100 PASS AC=17;AF=0.115415;AN=214;NS=2504;DP=19183;EAS_AF=0.002;AMR_AF=0.1383;AFR_AF=0.1967;EUR_AF=0.1322;SAS_AF=0.089;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T;1000g2015aug_all=0.115415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6791171;CLNALLELEID=251114;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1414;ExAC_nontcga_ALL=0.1231;ExAC_nontcga_AFR=0.2068;ExAC_nontcga_AMR=0.1180;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1107;ExAC_nontcga_NFE=0.1400;ExAC_nontcga_OTH=0.1177;ExAC_nontcga_SAS=0.0882;AF=0.1534;AF_popmax=0.2122;AF_male=0.1561;AF_female=0.1500;AF_raw=0.1537;AF_afr=0.2122;AF_sas=.;AF_amr=0.1368;AF_eas=0;AF_nfe=0.1503;AF_fin=0.1002;AF_asj=0.1103;AF_oth=0.1418;non_topmed_AF_popmax=0.2117;non_neuro_AF_popmax=0.2173;non_cancer_AF_popmax=.;controls_AF_popmax=0.2207;Kaviar_AF=0.126564;Kaviar_AC=19567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.136024;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 38766825 rs11129804 A G 100 PASS AC=13;AF=0.0844649;AN=214;NS=2504;DP=18661;EAS_AF=0.1062;AMR_AF=0.0865;AFR_AF=0.0658;EUR_AF=0.0547;SAS_AF=0.1166;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0844649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11129804;CLNALLELEID=367220;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0492;ExAC_nontcga_ALL=0.0717;ExAC_nontcga_AFR=0.0552;ExAC_nontcga_AMR=0.1223;ExAC_nontcga_EAS=0.1193;ExAC_nontcga_FIN=0.0440;ExAC_nontcga_NFE=0.0508;ExAC_nontcga_OTH=0.0439;ExAC_nontcga_SAS=0.1114;AF=0.0532;AF_popmax=0.1207;AF_male=0.0517;AF_female=0.0550;AF_raw=0.0532;AF_afr=0.0505;AF_sas=.;AF_amr=0.1038;AF_eas=0.1207;AF_nfe=0.0479;AF_fin=0.0403;AF_asj=0.0586;AF_oth=0.0526;non_topmed_AF_popmax=0.1211;non_neuro_AF_popmax=0.1207;non_cancer_AF_popmax=.;controls_AF_popmax=0.1321;Kaviar_AF=0.0616163;Kaviar_AC=9526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768212 rs138413438 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20455;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2678T:p.P893L,SCN10A:NM_001293306:exon16:c.C2972T:p.P991L,SCN10A:NM_006514:exon16:c.C2972T:p.P991L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138413438;CLNALLELEID=239228;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_rankscore=0.592;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.71;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=P;LRT_score=0.102;LRT_converted_rankscore=0.198;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.17;MutationAssessor_score_rankscore=0.609;MutationAssessor_pred=M;FATHMM_score=-1.94;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-7.81;PROVEAN_converted_rankscore=0.959;PROVEAN_pred=D;VEST3_score=0.445;VEST3_rankscore=0.499;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.624;MetaLR_rankscore=0.868;MetaLR_pred=D;M-CAP_score=0.051;M-CAP_rankscore=0.644;M-CAP_pred=D;REVEL_score=0.405;REVEL_rankscore=0.721;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.779;CADD_raw_rankscore=0.641;CADD_phred=24.7;DANN_score=0.998;DANN_rankscore=0.851;fathmm-MKL_coding_score=0.708;fathmm-MKL_coding_rankscore=0.345;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.263;Eigen-PC-raw=0.147;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.433;phyloP100way_vertebrate_rankscore=0.523;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.021;phastCons20way_mammalian_rankscore=0.135;SiPhy_29way_logOdds=16.450;SiPhy_29way_logOdds_rankscore=0.837;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0007;AF_popmax=0.0013;AF_male=0.0005;AF_female=0.0009;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.060883;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768247 rs59468016 G A 100 PASS AC=70;AF=0.190495;AN=214;NS=2504;DP=19690;EAS_AF=0.373;AMR_AF=0.1081;AFR_AF=0.0151;EUR_AF=0.2525;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G;1000g2015aug_all=0.190495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59468016;CLNALLELEID=251115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2614;ExAC_nontcga_ALL=0.2357;ExAC_nontcga_AFR=0.0456;ExAC_nontcga_AMR=0.1037;ExAC_nontcga_EAS=0.3981;ExAC_nontcga_FIN=0.2736;ExAC_nontcga_NFE=0.2677;ExAC_nontcga_OTH=0.2550;ExAC_nontcga_SAS=0.2313;AF=0.2074;AF_popmax=0.4042;AF_male=0.2075;AF_female=0.2071;AF_raw=0.2074;AF_afr=0.0483;AF_sas=.;AF_amr=0.1191;AF_eas=0.4042;AF_nfe=0.2663;AF_fin=0.2583;AF_asj=0.2897;AF_oth=0.2482;non_topmed_AF_popmax=0.4038;non_neuro_AF_popmax=0.4042;non_cancer_AF_popmax=.;controls_AF_popmax=0.4004;Kaviar_AF=0.231646;Kaviar_AC=35813;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.200632;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38768300 rs57326399 T C 100 PASS AC=70;AF=0.210663;AN=214;NS=2504;DP=19922;EAS_AF=0.373;AMR_AF=0.1153;AFR_AF=0.0862;EUR_AF=0.2545;SAS_AF=0.2342;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V;1000g2015aug_all=0.210663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57326399;CLNALLELEID=101300;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.117;SIFT_converted_rankscore=0.282;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.87;MutationAssessor_score_rankscore=0.215;MutationAssessor_pred=L;FATHMM_score=-1.77;FATHMM_converted_rankscore=0.837;FATHMM_pred=D;PROVEAN_score=0.18;PROVEAN_converted_rankscore=0.050;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-1.095;MetaSVM_rankscore=0.048;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.190;REVEL_rankscore=0.473;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.544;CADD_raw_rankscore=0.016;CADD_phred=0.002;DANN_score=0.344;DANN_rankscore=0.021;fathmm-MKL_coding_score=0.064;fathmm-MKL_coding_rankscore=0.122;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.324;Eigen-PC-raw=-1.404;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=-4.17;GERP++_RS_rankscore=0.036;phyloP100way_vertebrate=0.434;phyloP100way_vertebrate_rankscore=0.211;phyloP20way_mammalian=-0.205;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.965;phastCons20way_mammalian_rankscore=0.450;SiPhy_29way_logOdds=6.362;SiPhy_29way_logOdds_rankscore=0.205;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2620;ExAC_nontcga_ALL=0.2419;ExAC_nontcga_AFR=0.1109;ExAC_nontcga_AMR=0.1062;ExAC_nontcga_EAS=0.3978;ExAC_nontcga_FIN=0.2734;ExAC_nontcga_NFE=0.2684;ExAC_nontcga_OTH=0.2550;ExAC_nontcga_SAS=0.2315;AF=0.2245;AF_popmax=0.4039;AF_male=0.2256;AF_female=0.2231;AF_raw=0.2248;AF_afr=0.1092;AF_sas=.;AF_amr=0.1215;AF_eas=0.4039;AF_nfe=0.2664;AF_fin=0.2583;AF_asj=0.2931;AF_oth=0.2523;non_topmed_AF_popmax=0.4034;non_neuro_AF_popmax=0.4039;non_cancer_AF_popmax=.;controls_AF_popmax=0.3998;Kaviar_AF=0.235411;Kaviar_AC=36395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.896335;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38768334 rs7374804 T C 100 PASS AC=17;AF=0.135982;AN=214;NS=2504;DP=20020;EAS_AF=0.2599;AMR_AF=0.1037;AFR_AF=0.1051;EUR_AF=0.0636;SAS_AF=0.1472;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2556G:p.K852K,SCN10A:NM_001293306:exon16:c.A2850G:p.K950K,SCN10A:NM_006514:exon16:c.A2850G:p.K950K;1000g2015aug_all=0.135982;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7374804;CLNALLELEID=367520;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0648;ExAC_nontcga_ALL=0.0965;ExAC_nontcga_AFR=0.0879;ExAC_nontcga_AMR=0.1273;ExAC_nontcga_EAS=0.2705;ExAC_nontcga_FIN=0.0482;ExAC_nontcga_NFE=0.0638;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.1255;AF=0.0796;AF_popmax=0.2752;AF_male=0.0805;AF_female=0.0784;AF_raw=0.0798;AF_afr=0.0867;AF_sas=.;AF_amr=0.1126;AF_eas=0.2752;AF_nfe=0.0621;AF_fin=0.0478;AF_asj=0.0828;AF_oth=0.0673;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2923;Kaviar_AF=0.0912989;Kaviar_AC=14115;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.434816;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38768427 rs200993949 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20358;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2463A:p.V821V,SCN10A:NM_001293306:exon16:c.C2757A:p.V919V,SCN10A:NM_006514:exon16:c.C2757A:p.V919V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200993949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345942;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768609 rs572806703 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19736;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572806703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.369e-05;AF_popmax=0.0012;AF_male=5.723e-05;AF_female=7.178e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38769983 rs141622599 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18338;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141622599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.095e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.873e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38770391 rs139988577 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18888;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon14:c.T1988C:p.L663P,SCN10A:NM_001293306:exon15:c.T2282C:p.L761P,SCN10A:NM_006514:exon15:c.T2282C:p.L761P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139988577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.92;MutationAssessor_score_rankscore=0.963;MutationAssessor_pred=H;FATHMM_score=-5.43;FATHMM_converted_rankscore=0.991;FATHMM_pred=D;PROVEAN_score=-6.74;PROVEAN_converted_rankscore=0.926;PROVEAN_pred=D;VEST3_score=0.99;VEST3_rankscore=0.994;MetaSVM_score=1.021;MetaSVM_rankscore=0.976;MetaSVM_pred=D;MetaLR_score=0.984;MetaLR_rankscore=0.995;MetaLR_pred=D;M-CAP_score=0.723;M-CAP_rankscore=0.978;M-CAP_pred=D;REVEL_score=0.945;REVEL_rankscore=0.989;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.824;CADD_raw_rankscore=0.797;CADD_phred=27.2;DANN_score=0.999;DANN_rankscore=0.970;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.873;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.952;Eigen-PC-raw=0.814;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=9.269;phyloP100way_vertebrate_rankscore=0.949;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.725;phastCons20way_mammalian_rankscore=0.315;SiPhy_29way_logOdds=14.559;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.1749;dbscSNV_RF_SCORE=0.444;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.959e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.751e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.575404;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38780971 rs9830687 G A 100 PASS AC=42;AF=0.1873;AN=214;NS=2504;DP=7849;EAS_AF=0.0079;AMR_AF=0.2118;AFR_AF=0.2716;EUR_AF=0.2465;SAS_AF=0.18;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9830687;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2509;ExAC_nontcga_ALL=0.2211;ExAC_nontcga_AFR=0.2858;ExAC_nontcga_AMR=0.1842;ExAC_nontcga_EAS=0.0116;ExAC_nontcga_FIN=0.2194;ExAC_nontcga_NFE=0.2540;ExAC_nontcga_OTH=0.2320;ExAC_nontcga_SAS=0.1986;AF=0.2498;AF_popmax=0.2888;AF_male=0.2505;AF_female=0.2490;AF_raw=0.2500;AF_afr=0.2888;AF_sas=.;AF_amr=0.1993;AF_eas=0.0077;AF_nfe=0.2643;AF_fin=0.2113;AF_asj=0.2138;AF_oth=0.2532;non_topmed_AF_popmax=0.2883;non_neuro_AF_popmax=0.3006;non_cancer_AF_popmax=.;controls_AF_popmax=0.3014;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 38784010 rs139209095 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18602;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon12:c.G1584T:p.E528D,SCN10A:NM_001293306:exon13:c.G1878T:p.E626D,SCN10A:NM_006514:exon13:c.G1878T:p.E626D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139209095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.176;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.767;MutationTaster_converted_rankscore=0.295;MutationTaster_pred=N;MutationAssessor_score=1.715;MutationAssessor_score_rankscore=0.445;MutationAssessor_pred=L;FATHMM_score=-4.33;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=-2.37;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=0.303;MetaSVM_rankscore=0.876;MetaSVM_pred=D;MetaLR_score=0.787;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=0.095;M-CAP_rankscore=0.764;M-CAP_pred=D;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.858;CADD_raw_rankscore=0.404;CADD_phred=21.7;DANN_score=0.994;DANN_rankscore=0.621;fathmm-MKL_coding_score=0.375;fathmm-MKL_coding_rankscore=0.256;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.499;Eigen-PC-raw=-0.453;GenoCanyon_score=0.036;GenoCanyon_score_rankscore=0.142;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.55;GERP++_RS_rankscore=0.222;phyloP100way_vertebrate=-0.166;phyloP100way_vertebrate_rankscore=0.099;phyloP20way_mammalian=0.042;phyloP20way_mammalian_rankscore=0.156;phastCons100way_vertebrate=0.244;phastCons100way_vertebrate_rankscore=0.246;phastCons20way_mammalian=0.587;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=5.387;SiPhy_29way_logOdds_rankscore=0.154;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.500608;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38784029 rs6599250 T C 100 PASS AC=131;AF=0.757788;AN=214;NS=2504;DP=19126;EAS_AF=0.8373;AMR_AF=0.6239;AFR_AF=0.9501;EUR_AF=0.5865;SAS_AF=0.6871;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.757788;GWAS=rs6599250|PR-interval|3.8|4E-242|PMID:30046033;ORegAnno_REGULATORY_P=rs6599250|PR-interval|3.8|4E-242|PMID:30046033;avsnp150=rs6599250;CLNALLELEID=251116;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.01;esp6500siv2_ea=0.5951;ExAC_nontcga_ALL=0.6571;ExAC_nontcga_AFR=0.9095;ExAC_nontcga_AMR=0.6794;ExAC_nontcga_EAS=0.8585;ExAC_nontcga_FIN=0.5418;ExAC_nontcga_NFE=0.5996;ExAC_nontcga_OTH=0.6055;ExAC_nontcga_SAS=0.6456;AF=0.6999;AF_popmax=0.9108;AF_male=0.7073;AF_female=0.6905;AF_raw=0.6995;AF_afr=0.9108;AF_sas=.;AF_amr=0.6785;AF_eas=0.8735;AF_nfe=0.6099;AF_fin=0.5250;AF_asj=0.6285;AF_oth=0.6326;non_topmed_AF_popmax=0.9107;non_neuro_AF_popmax=0.9171;non_cancer_AF_popmax=.;controls_AF_popmax=0.9210;Kaviar_AF=0.642851;Kaviar_AC=99386;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.443089;ALLELE_END GT 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 +3 38784056 rs7618620 A C 100 PASS AC=5;AF=0.137979;AN=214;NS=2504;DP=19248;EAS_AF=0.2014;AMR_AF=0.0865;AFR_AF=0.2126;EUR_AF=0.0268;SAS_AF=0.1227;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7618620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0297;ExAC_nontcga_ALL=0.0785;ExAC_nontcga_AFR=0.2145;ExAC_nontcga_AMR=0.1100;ExAC_nontcga_EAS=0.1978;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0294;ExAC_nontcga_OTH=0.0692;ExAC_nontcga_SAS=0.1165;AF=0.0864;AF_popmax=0.2046;AF_male=0.0902;AF_female=0.0817;AF_raw=0.0868;AF_afr=0.2034;AF_sas=.;AF_amr=0.0873;AF_eas=0.2046;AF_nfe=0.0290;AF_fin=0.0127;AF_asj=0.0586;AF_oth=0.0414;non_topmed_AF_popmax=0.2036;non_neuro_AF_popmax=0.2046;non_cancer_AF_popmax=.;controls_AF_popmax=0.2105;Kaviar_AF=0.0722759;Kaviar_AC=11174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.946063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38791482 rs12494065 C T 100 PASS AC=5;AF=0.137979;AN=214;NS=2504;DP=21147;EAS_AF=0.2004;AMR_AF=0.0865;AFR_AF=0.2042;EUR_AF=0.0268;SAS_AF=0.135;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12494065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0849;AF_popmax=0.2066;AF_male=0.0886;AF_female=0.0802;AF_raw=0.0851;AF_afr=0.1994;AF_sas=.;AF_amr=0.0861;AF_eas=0.2066;AF_nfe=0.0279;AF_fin=0.0127;AF_asj=0.0517;AF_oth=0.0423;non_topmed_AF_popmax=0.2045;non_neuro_AF_popmax=0.2066;non_cancer_AF_popmax=.;controls_AF_popmax=0.2133;Kaviar_AF=0.0126518;Kaviar_AC=1956;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38791507 rs12054245 C T 100 PASS AC=13;AF=0.0880591;AN=214;NS=2504;DP=20640;EAS_AF=0.1012;AMR_AF=0.0879;AFR_AF=0.0877;EUR_AF=0.0557;SAS_AF=0.1084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0880591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12054245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0565;AF_popmax=0.1129;AF_male=0.0548;AF_female=0.0586;AF_raw=0.0566;AF_afr=0.0648;AF_sas=.;AF_amr=0.1038;AF_eas=0.1129;AF_nfe=0.0476;AF_fin=0.0394;AF_asj=0.0552;AF_oth=0.0534;non_topmed_AF_popmax=0.1131;non_neuro_AF_popmax=0.1129;non_cancer_AF_popmax=.;controls_AF_popmax=0.1217;Kaviar_AF=0.0089779;Kaviar_AC=1388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.617260;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38793940 rs7630989 A G 100 PASS AC=5;AF=0.139976;AN=214;NS=2504;DP=18536;EAS_AF=0.2004;AMR_AF=0.0865;AFR_AF=0.2118;EUR_AF=0.0268;SAS_AF=0.135;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.T1525C:p.S509P,SCN10A:NM_006514:exon11:c.T1525C:p.S509P;1000g2015aug_all=0.139976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7630989;CLNALLELEID=367529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.16;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.008;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-3.81;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.026;MetaSVM_score=-0.811;MetaSVM_rankscore=0.545;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.231;REVEL_rankscore=0.537;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.356;CADD_raw_rankscore=0.064;CADD_phred=0.492;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_rankscore=0.079;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.348;Eigen-PC-raw=-1.329;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-0.45;GERP++_RS_rankscore=0.116;phyloP100way_vertebrate=-0.663;phyloP100way_vertebrate_rankscore=0.054;phyloP20way_mammalian=-0.291;phyloP20way_mammalian_rankscore=0.083;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=1.015;SiPhy_29way_logOdds_rankscore=0.014;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0789;ExAC_nontcga_AFR=0.2152;ExAC_nontcga_AMR=0.1089;ExAC_nontcga_EAS=0.1979;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0674;ExAC_nontcga_SAS=0.1237;AF=0.0858;AF_popmax=0.2050;AF_male=0.0895;AF_female=0.0811;AF_raw=0.0858;AF_afr=0.2023;AF_sas=.;AF_amr=0.0861;AF_eas=0.2050;AF_nfe=0.0280;AF_fin=0.0127;AF_asj=0.0517;AF_oth=0.0434;non_topmed_AF_popmax=0.2029;non_neuro_AF_popmax=0.2050;non_cancer_AF_popmax=.;controls_AF_popmax=0.2105;Kaviar_AF=0.0723859;Kaviar_AC=11191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.103293;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38793989 rs7617919 G A 100 PASS AC=70;AF=0.207668;AN=214;NS=2504;DP=18386;EAS_AF=0.373;AMR_AF=0.1052;AFR_AF=0.0787;EUR_AF=0.2495;SAS_AF=0.2413;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L;1000g2015aug_all=0.207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7617919;CLNALLELEID=251117;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2523;ExAC_nontcga_ALL=0.2442;ExAC_nontcga_AFR=0.1139;ExAC_nontcga_AMR=0.1013;ExAC_nontcga_EAS=0.4065;ExAC_nontcga_FIN=0.2684;ExAC_nontcga_NFE=0.2635;ExAC_nontcga_OTH=0.2606;ExAC_nontcga_SAS=0.2591;AF=0.2182;AF_popmax=0.4045;AF_male=0.2194;AF_female=0.2166;AF_raw=0.2183;AF_afr=0.1061;AF_sas=.;AF_amr=0.1194;AF_eas=0.4045;AF_nfe=0.2587;AF_fin=0.2475;AF_asj=0.2931;AF_oth=0.2403;non_topmed_AF_popmax=0.4041;non_neuro_AF_popmax=0.4045;non_cancer_AF_popmax=.;controls_AF_popmax=0.4011;Kaviar_AF=0.229538;Kaviar_AC=35487;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.526908;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38798171 rs62244070 C T 100 PASS AC=70;AF=0.207468;AN=214;NS=2504;DP=19656;EAS_AF=0.372;AMR_AF=0.1052;AFR_AF=0.0794;EUR_AF=0.2485;SAS_AF=0.2413;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E;1000g2015aug_all=0.207468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62244070;CLNALLELEID=251118;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2509;ExAC_nontcga_ALL=0.2353;ExAC_nontcga_AFR=0.1070;ExAC_nontcga_AMR=0.1004;ExAC_nontcga_EAS=0.4035;ExAC_nontcga_FIN=0.2622;ExAC_nontcga_NFE=0.2579;ExAC_nontcga_OTH=0.2421;ExAC_nontcga_SAS=0.2316;AF=0.2170;AF_popmax=0.4034;AF_male=0.2181;AF_female=0.2156;AF_raw=0.2174;AF_afr=0.1054;AF_sas=.;AF_amr=0.1167;AF_eas=0.4034;AF_nfe=0.2570;AF_fin=0.2468;AF_asj=0.2931;AF_oth=0.2408;non_topmed_AF_popmax=0.4024;non_neuro_AF_popmax=0.4034;non_cancer_AF_popmax=.;controls_AF_popmax=0.4;Kaviar_AF=0.227681;Kaviar_AC=35200;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.455034;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38802155 rs188914048 A G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20852;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188914048;CLNALLELEID=500810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0004;AF=0.0018;AF_popmax=0.0035;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0012;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0021539;Kaviar_AC=333;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 38802251 rs7641844 A G 100 PASS AC=77;AF=0.388778;AN=214;NS=2504;DP=20125;EAS_AF=0.6815;AMR_AF=0.2522;AFR_AF=0.3275;EUR_AF=0.2793;SAS_AF=0.3793;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.388778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7641844;CLNALLELEID=251119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2826;ExAC_nontcga_ALL=0.3336;ExAC_nontcga_AFR=0.3551;ExAC_nontcga_AMR=0.2871;ExAC_nontcga_EAS=0.6880;ExAC_nontcga_FIN=0.2705;ExAC_nontcga_NFE=0.2881;ExAC_nontcga_OTH=0.3213;ExAC_nontcga_SAS=0.3606;AF=0.3211;AF_popmax=0.7030;AF_male=0.3269;AF_female=0.3138;AF_raw=0.3212;AF_afr=0.3435;AF_sas=.;AF_amr=0.2901;AF_eas=0.7030;AF_nfe=0.2872;AF_fin=0.2591;AF_asj=0.3552;AF_oth=0.2904;non_topmed_AF_popmax=0.7021;non_neuro_AF_popmax=0.7030;non_cancer_AF_popmax=.;controls_AF_popmax=0.6963;Kaviar_AF=0.321044;Kaviar_AC=49634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|0 +3 38802620 rs570058097;rs573308926 TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 100 PASS AC=3;AF=0.0091853;AN=214;NS=2504;DP=21109;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0041;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573308926;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0162;AF_popmax=0.0236;AF_male=0.0159;AF_female=0.0164;AF_raw=0.0163;AF_afr=0.0040;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0236;AF_fin=0.0175;AF_asj=0.0276;AF_oth=0.0257;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.0185;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38804951 rs145644439 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=22686;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145644439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0024;AF=0.0023;AF_popmax=0.0040;AF_male=0.0021;AF_female=0.0026;AF_raw=0.0023;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0031436;Kaviar_AC=486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38805069 rs74717885 T C 100 PASS AC=4;AF=0.0419329;AN=214;NS=2504;DP=22418;EAS_AF=0.1587;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0327;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon5:c.A618G:p.I206M,SCN10A:NM_001293307:exon5:c.A618G:p.I206M,SCN10A:NM_006514:exon5:c.A618G:p.I206M;1000g2015aug_all=0.0419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74717885;CLNALLELEID=368585;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.656;LRT_converted_rankscore=0.105;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=1.185;MutationAssessor_score_rankscore=0.302;MutationAssessor_pred=L;FATHMM_score=-4.89;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.81;PROVEAN_converted_rankscore=0.425;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.028;MetaSVM_score=-0.565;MetaSVM_rankscore=0.662;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.056;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.195;REVEL_rankscore=0.481;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.807;CADD_raw_rankscore=0.278;CADD_phred=15.03;DANN_score=0.913;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.957;Eigen-PC-raw=-0.960;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.054;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-0.839;GERP++_RS_rankscore=0.102;phyloP100way_vertebrate=-0.537;phyloP100way_vertebrate_rankscore=0.062;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.917;phastCons20way_mammalian_rankscore=0.393;SiPhy_29way_logOdds=1.478;SiPhy_29way_logOdds_rankscore=0.023;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0159;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0.1493;ExAC_nontcga_FIN=0.0070;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0362;AF=0.0177;AF_popmax=0.1577;AF_male=0.0203;AF_female=0.0145;AF_raw=0.0177;AF_afr=0.0026;AF_sas=.;AF_amr=0.0071;AF_eas=0.1577;AF_nfe=0.0149;AF_fin=0.0075;AF_asj=0.0310;AF_oth=0.0147;non_topmed_AF_popmax=0.1551;non_neuro_AF_popmax=0.1577;non_cancer_AF_popmax=.;controls_AF_popmax=0.1638;Kaviar_AF=0.0243852;Kaviar_AC=3770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.229262;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38805130 rs73826327 C G 100 PASS AC=7;AF=0.11901;AN=214;NS=2504;DP=21498;EAS_AF=0.1587;AMR_AF=0.0389;AFR_AF=0.2322;EUR_AF=0.0437;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.11901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73826327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.2056;ExAC_nontcga_AMR=0.0285;ExAC_nontcga_EAS=0.1504;ExAC_nontcga_FIN=0.0362;ExAC_nontcga_NFE=0.0464;ExAC_nontcga_OTH=0.0751;ExAC_nontcga_SAS=0.0751;AF=0.0944;AF_popmax=0.1935;AF_male=0.0970;AF_female=0.0912;AF_raw=0.0947;AF_afr=0.1935;AF_sas=.;AF_amr=0.0355;AF_eas=0.1568;AF_nfe=0.0481;AF_fin=0.0518;AF_asj=0.0903;AF_oth=0.0535;non_topmed_AF_popmax=0.1936;non_neuro_AF_popmax=0.1912;non_cancer_AF_popmax=.;controls_AF_popmax=0.1927;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38805157 rs78916443 G A 100 PASS AC=6;AF=0.00279553;AN=214;NS=2504;DP=21338;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78916443;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0069;AF_popmax=0.0106;AF_male=0.0067;AF_female=0.0071;AF_raw=0.0069;AF_afr=0.0020;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0035;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0017011;Kaviar_AC=263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1281719|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38812708 rs4420804 C T 100 PASS AC=77;AF=0.416334;AN=214;NS=2504;DP=19730;EAS_AF=0.3085;AMR_AF=0.5043;AFR_AF=0.4629;EUR_AF=0.3837;SAS_AF=0.4356;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.416334;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4420804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4031;AF_popmax=0.5637;AF_male=0.4030;AF_female=0.4033;AF_raw=0.4033;AF_afr=0.4853;AF_sas=.;AF_amr=0.5637;AF_eas=0.3217;AF_nfe=0.3809;AF_fin=0.3084;AF_asj=0.3586;AF_oth=0.3662;non_topmed_AF_popmax=0.5593;non_neuro_AF_popmax=0.5307;non_cancer_AF_popmax=.;controls_AF_popmax=0.5047;Kaviar_AF=0.0821852;Kaviar_AC=12706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|1 1|1 0|0 0|1 1|1 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 38835173 rs139643125 T A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=15364;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.004;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139643125;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0071;AF_popmax=0.0130;AF_male=0.0074;AF_female=0.0068;AF_raw=0.0071;AF_afr=0.0021;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0063;AF_asj=0.0276;AF_oth=0.0119;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835457 rs34314583 G A 100 PASS AC=4;AF=0.00299521;AN=214;NS=2504;DP=19492;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.C45T:p.R15R,SCN10A:NM_001293307:exon1:c.C45T:p.R15R,SCN10A:NM_006514:exon1:c.C45T:p.R15R;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34314583;CLNALLELEID=239236;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0122;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0070;AF_popmax=0.0105;AF_male=0.0064;AF_female=0.0078;AF_raw=0.0071;AF_afr=0.0017;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0105;AF_fin=0.0092;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0117;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0130;Kaviar_AF=0.0056338;Kaviar_AC=871;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461943;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835461 rs141207048 C A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19784;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.G41T:p.R14L,SCN10A:NM_001293307:exon1:c.G41T:p.R14L,SCN10A:NM_006514:exon1:c.G41T:p.R14L;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141207048;CLNALLELEID=393828;CLNDN=Brugada_syndrome|Episodic_pain_syndrome,_familial,_2|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3809893,OMIM:615551|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_rankscore=0.536;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.905;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=3.475;MutationAssessor_score_rankscore=0.927;MutationAssessor_pred=M;FATHMM_score=-4.05;FATHMM_converted_rankscore=0.965;FATHMM_pred=D;PROVEAN_score=-3.81;PROVEAN_converted_rankscore=0.718;PROVEAN_pred=D;VEST3_score=0.435;VEST3_rankscore=0.495;MetaSVM_score=0.841;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.877;MetaLR_rankscore=0.959;MetaLR_pred=D;M-CAP_score=0.380;M-CAP_rankscore=0.930;M-CAP_pred=D;REVEL_score=0.841;REVEL_rankscore=0.951;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.749;CADD_raw_rankscore=0.785;CADD_phred=27.0;DANN_score=0.997;DANN_rankscore=0.823;fathmm-MKL_coding_score=0.676;fathmm-MKL_coding_rankscore=0.332;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.108;Eigen-PC-raw=-0.068;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.089;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.32;GERP++_RS_rankscore=0.278;phyloP100way_vertebrate=0.530;phyloP100way_vertebrate_rankscore=0.226;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.113;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.922;phastCons20way_mammalian_rankscore=0.397;SiPhy_29way_logOdds=10.250;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0018;AF_popmax=0.0030;AF_male=0.0018;AF_female=0.0019;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019146;Kaviar_AC=296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.225351;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835509 rs200901459 T A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19704;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SCN10A;GeneDetail.refGene=dist\x3d8;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200901459;CLNALLELEID=367226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0020;AF_popmax=0.0034;AF_male=0.0018;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0020;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.753586;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46899725 rs202234617 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYL3;GeneDetail.refGene=NM_000258:c.*9C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202234617;CLNALLELEID=173937;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=6.593e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.563e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.939816;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46900051 rs3729704 G A 100 PASS AC=11;AF=0.147165;AN=214;NS=2504;DP=20682;EAS_AF=0.1538;AMR_AF=0.0778;AFR_AF=0.1051;EUR_AF=0.0795;SAS_AF=0.316;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729704;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0903;AF_popmax=0.1374;AF_male=0.0908;AF_female=0.0896;AF_raw=0.0904;AF_afr=0.1084;AF_sas=.;AF_amr=0.0755;AF_eas=0.1374;AF_nfe=0.0780;AF_fin=0.0783;AF_asj=0.1103;AF_oth=0.0967;non_topmed_AF_popmax=0.1362;non_neuro_AF_popmax=0.1374;non_cancer_AF_popmax=.;controls_AF_popmax=0.1543;Kaviar_AF=0.0189325;Kaviar_AC=2927;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0716912::-0.318367;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.867032;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46902129 rs2227294 T G 100 PASS AC=26;AF=0.462859;AN=214;NS=2504;DP=17734;EAS_AF=0.3869;AMR_AF=0.3012;AFR_AF=0.8865;EUR_AF=0.1372;SAS_AF=0.4182;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.462859;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2227294;CLNALLELEID=251170;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1248;ExAC_nontcga_ALL=0.2679;ExAC_nontcga_AFR=0.7879;ExAC_nontcga_AMR=0.3407;ExAC_nontcga_EAS=0.3832;ExAC_nontcga_FIN=0.1342;ExAC_nontcga_NFE=0.1266;ExAC_nontcga_OTH=0.1986;ExAC_nontcga_SAS=0.4046;AF=0.3261;AF_popmax=0.7825;AF_male=0.3342;AF_female=0.3159;AF_raw=0.3265;AF_afr=0.7825;AF_sas=.;AF_amr=0.3113;AF_eas=0.3695;AF_nfe=0.1193;AF_fin=0.1368;AF_asj=0.2138;AF_oth=0.1989;non_topmed_AF_popmax=0.7827;non_neuro_AF_popmax=0.7929;non_cancer_AF_popmax=.;controls_AF_popmax=0.7920;Kaviar_AF=0.247416;Kaviar_AC=38251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.525554;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 46902491 rs192329378 C A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=19293;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192329378;CLNALLELEID=52289;CLNDN=Familial_hypertrophic_cardiomyopathy_8|not_specified;CLNDISDB=MedGen:C1837471,OMIM:608751|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302261;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46902578 rs551103625 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19677;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551103625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.766111;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46904708 rs936175 C A 100 PASS AC=26;AF=0.39397;AN=214;NS=2504;DP=19600;EAS_AF=0.2609;AMR_AF=0.1931;AFR_AF=0.7837;EUR_AF=0.1322;SAS_AF=0.4162;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.39397;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936175;CLNALLELEID=251171;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1230;ExAC_nontcga_ALL=0.2252;ExAC_nontcga_AFR=0.7002;ExAC_nontcga_AMR=0.1279;ExAC_nontcga_EAS=0.2250;ExAC_nontcga_FIN=0.1332;ExAC_nontcga_NFE=0.1250;ExAC_nontcga_OTH=0.1772;ExAC_nontcga_SAS=0.4005;AF=0.2910;AF_popmax=0.7013;AF_male=0.2996;AF_female=0.2801;AF_raw=0.2912;AF_afr=0.7013;AF_sas=.;AF_amr=0.1592;AF_eas=0.2169;AF_nfe=0.1182;AF_fin=0.1355;AF_asj=0.2138;AF_oth=0.1897;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.7077;non_cancer_AF_popmax=.;controls_AF_popmax=0.7066;Kaviar_AF=0.209887;Kaviar_AC=32449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.170956::-0.264397;ENSEMBLReg=Name\x3dENSR00000684896|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.934619;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 46904812 rs2233264 G A 100 PASS AC=3;AF=0.0371406;AN=214;NS=2504;DP=18404;EAS_AF=0.1012;AMR_AF=0.0245;AFR_AF=0.0371;EUR_AF=0.0129;SAS_AF=0.0051;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL3:NM_000258:exon1:c.C69T:p.P23P;1000g2015aug_all=0.0371406;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233264;CLNALLELEID=52299;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0074;ExAC_nontcga_ALL=0.0189;ExAC_nontcga_AFR=0.0314;ExAC_nontcga_AMR=0.0265;ExAC_nontcga_EAS=0.0879;ExAC_nontcga_FIN=0.0296;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0091;AF=0.0223;AF_popmax=0.0769;AF_male=0.0241;AF_female=0.0201;AF_raw=0.0223;AF_afr=0.0358;AF_sas=.;AF_amr=0.0248;AF_eas=0.0769;AF_nfe=0.0075;AF_fin=0.0322;AF_asj=0.0103;AF_oth=0.0165;non_topmed_AF_popmax=0.0775;non_neuro_AF_popmax=0.0769;non_cancer_AF_popmax=.;controls_AF_popmax=0.0742;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000684896|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.539383;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 52485889 rs201112655 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57743337 rs13400 C G 100 PASS AC=51;AF=0.192492;AN=214;NS=2504;DP=16626;EAS_AF=0.4702;AMR_AF=0.2161;AFR_AF=0.0053;EUR_AF=0.1988;SAS_AF=0.136;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SLMAP;GeneDetail.refGene=NM_001304420:c.-42C>G\x3bNM_007159:c.-42C>G\x3bNM_001304421:c.-42C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1936;ExAC_nontcga_ALL=0.2077;ExAC_nontcga_AFR=0.0381;ExAC_nontcga_AMR=0.3421;ExAC_nontcga_EAS=0.4819;ExAC_nontcga_FIN=0.1639;ExAC_nontcga_NFE=0.1976;ExAC_nontcga_OTH=0.1994;ExAC_nontcga_SAS=0.1301;AF=0.1609;AF_popmax=0.5019;AF_male=0.1664;AF_female=0.1540;AF_raw=0.1611;AF_afr=0.0400;AF_sas=.;AF_amr=0.2795;AF_eas=0.5019;AF_nfe=0.1865;AF_fin=0.1649;AF_asj=0.1493;AF_oth=0.1774;non_topmed_AF_popmax=0.4993;non_neuro_AF_popmax=0.5019;non_cancer_AF_popmax=.;controls_AF_popmax=0.5098;Kaviar_AF=0.196828;Kaviar_AC=30430;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.193182::0.493796;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000153102|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256099|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.513890;ALLELE_END GT 0|0 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57835630 rs541412592 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16144;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541412592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.184e-05;AF_popmax=6.479e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.479e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=7.34e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57843561 rs200859030 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17896;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200859030;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57846577 rs2306056 C A 100 PASS AC=55;AF=0.228634;AN=214;NS=2504;DP=14145;EAS_AF=0.4315;AMR_AF=0.2291;AFR_AF=0.1626;EUR_AF=0.2018;SAS_AF=0.136;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306056;CLNALLELEID=251243;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.2529;ExAC_nontcga_AFR=0.2188;ExAC_nontcga_AMR=0.3814;ExAC_nontcga_EAS=0.4496;ExAC_nontcga_FIN=0.1880;ExAC_nontcga_NFE=0.2348;ExAC_nontcga_OTH=0.2264;ExAC_nontcga_SAS=0.1603;AF=0.2175;AF_popmax=0.4732;AF_male=0.2228;AF_female=0.2107;AF_raw=0.1973;AF_afr=0.1911;AF_sas=.;AF_amr=0.3141;AF_eas=0.4732;AF_nfe=0.1997;AF_fin=0.2201;AF_asj=0.1758;AF_oth=0.2218;non_topmed_AF_popmax=0.4705;non_neuro_AF_popmax=0.4732;non_cancer_AF_popmax=.;controls_AF_popmax=0.4722;Kaviar_AF=0.0131305;Kaviar_AC=2030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57846627 rs576536272 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576536272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0006531;Kaviar_AC=17;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57847871 rs541328649 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15873;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541328649;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57857439 rs111294347 A G 100 PASS AC=8;AF=0.0147764;AN=214;NS=2504;DP=14078;EAS_AF=0.002;AMR_AF=0.0288;AFR_AF=0.0023;EUR_AF=0.0417;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111294347;CLNALLELEID=251244;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0506;ExAC_nontcga_ALL=0.0322;ExAC_nontcga_AFR=0.0101;ExAC_nontcga_AMR=0.0175;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0494;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0185;AF=0.0288;AF_popmax=0.0459;AF_male=0.0285;AF_female=0.0291;AF_raw=0.0288;AF_afr=0.0088;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0459;AF_fin=0.0193;AF_asj=0;AF_oth=0.0360;non_topmed_AF_popmax=0.0414;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0282;Kaviar_AF=0.0342298;Kaviar_AC=5292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.848298;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57882601 rs17058639 C T 100 PASS AC=60;AF=0.299521;AN=214;NS=2504;DP=18552;EAS_AF=0.4752;AMR_AF=0.3429;AFR_AF=0.1218;EUR_AF=0.2654;SAS_AF=0.363;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304421:exon13:c.C1278T:p.D426D,SLMAP:NM_007159:exon14:c.C1341T:p.D447D,SLMAP:NM_001304420:exon15:c.C1392T:p.D464D;1000g2015aug_all=0.299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17058639;CLNALLELEID=500813;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.2420;ExAC_nontcga_ALL=0.3005;ExAC_nontcga_AFR=0.1523;ExAC_nontcga_AMR=0.3631;ExAC_nontcga_EAS=0.4887;ExAC_nontcga_FIN=0.2989;ExAC_nontcga_NFE=0.2697;ExAC_nontcga_OTH=0.2907;ExAC_nontcga_SAS=0.3537;AF=0.2437;AF_popmax=0.4651;AF_male=0.2419;AF_female=0.2460;AF_raw=0.2435;AF_afr=0.1593;AF_sas=.;AF_amr=0.3416;AF_eas=0.4651;AF_nfe=0.2522;AF_fin=0.2797;AF_asj=0.3715;AF_oth=0.2588;non_topmed_AF_popmax=0.4695;non_neuro_AF_popmax=0.4651;non_cancer_AF_popmax=.;controls_AF_popmax=0.4736;Kaviar_AF=0.279466;Kaviar_AC=43206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 +3 57893558 rs143327447 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18588;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143327447;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57898376 rs35219531 T A 100 PASS AC=7;AF=0.0071885;AN=214;NS=2504;DP=18435;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0308;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon4:c.T321A:p.L107L,SLMAP:NM_001311179:exon5:c.T396A:p.L132L,SLMAP:NM_001304422:exon6:c.T519A:p.L173L,SLMAP:NM_001311178:exon6:c.T519A:p.L173L,SLMAP:NM_001304421:exon16:c.T1803A:p.L601L,SLMAP:NM_007159:exon17:c.T1866A:p.L622L,SLMAP:NM_001304420:exon18:c.T1917A:p.L639L;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35219531;CLNALLELEID=239292;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0320;ExAC_nontcga_ALL=0.0172;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0053;AF=0.0158;AF_popmax=0.0249;AF_male=0.0159;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0057;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0249;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0250;non_cancer_AF_popmax=.;controls_AF_popmax=0.0179;Kaviar_AF=0.0167268;Kaviar_AC=2586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.563219;ALLELE_END GT 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57898433 rs199881493 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17622;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199881493;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.022;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.379e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=9.554e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57902639 rs17745496 G A 100 PASS AC=9;AF=0.0133786;AN=214;NS=2504;DP=17662;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0023;EUR_AF=0.0388;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon6:c.G498A:p.Q166Q,SLMAP:NM_001311179:exon7:c.G573A:p.Q191Q,SLMAP:NM_001304422:exon8:c.G696A:p.Q232Q,SLMAP:NM_001311178:exon8:c.G696A:p.Q232Q,SLMAP:NM_001304421:exon18:c.G1980A:p.Q660Q,SLMAP:NM_007159:exon19:c.G2043A:p.Q681Q,SLMAP:NM_001304420:exon20:c.G2094A:p.Q698Q;1000g2015aug_all=0.0133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17745496;CLNALLELEID=394180;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0322;ExAC_nontcga_ALL=0.0221;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0323;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0127;AF=0.0224;AF_popmax=0.0330;AF_male=0.0229;AF_female=0.0218;AF_raw=0.0224;AF_afr=0.0039;AF_sas=.;AF_amr=0.0272;AF_eas=0;AF_nfe=0.0330;AF_fin=0.0273;AF_asj=0.0586;AF_oth=0.0239;non_topmed_AF_popmax=0.0323;non_neuro_AF_popmax=0.0330;non_cancer_AF_popmax=.;controls_AF_popmax=0.0299;Kaviar_AF=0.0233244;Kaviar_AC=3606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.012318;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 57908594 rs3832206 CT C 100 PASS AC=51;AF=0.1875;AN=214;NS=2504;DP=19338;EAS_AF=0.4286;AMR_AF=0.219;AFR_AF=0.0204;EUR_AF=0.1978;SAS_AF=0.1319;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1875;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3832206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1907;ExAC_nontcga_ALL=0.2135;ExAC_nontcga_AFR=0.0511;ExAC_nontcga_AMR=0.3562;ExAC_nontcga_EAS=0.4551;ExAC_nontcga_FIN=0.1633;ExAC_nontcga_NFE=0.2006;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.1417;AF=0.1588;AF_popmax=0.4582;AF_male=0.164;AF_female=0.1523;AF_raw=0.1584;AF_afr=0.0480;AF_sas=.;AF_amr=0.2813;AF_eas=0.4582;AF_nfe=0.1819;AF_fin=0.1645;AF_asj=0.1538;AF_oth=0.1772;non_topmed_AF_popmax=0.4551;non_neuro_AF_popmax=0.4582;non_cancer_AF_popmax=.;controls_AF_popmax=0.4615;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.026722;ALLELE_END GT 0|0 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57912985 rs367838625 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367838625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.078911;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57913141 rs200394048 T A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180702494 rs17850540 T G 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=15501;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DNAJC19:NM_001190233:exon6:c.A210C:p.G70G,DNAJC19:NM_145261:exon6:c.A285C:p.G95G;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17850540;CLNALLELEID=140824;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified|not_provided;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0060;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0189;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0156;ExAC_nontcga_SAS=0.0030;AF=0.0076;AF_popmax=0.0100;AF_male=0.0061;AF_female=0.0093;AF_raw=0.0075;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0170;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0185;Kaviar_AF=0.0043272;Kaviar_AC=669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.549875;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180703653 rs144205126 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180703663 rs193301673 A C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180705871 rs142023670 C T 100 PASS 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=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0097;AF=0.0019;AF_popmax=0.0071;AF_male=0.0021;AF_female=0.0017;AF_raw=0.0019;AF_afr=0.0009;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.637186;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DNAJC19:NM_145261:exon3:c.G69A:p.L23L;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142023670;CLNALLELEID=140823;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified|not_provided;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0097;AF=0.0019;AF_popmax=0.0071;AF_male=0.0021;AF_female=0.0017;AF_raw=0.0019;AF_afr=0.0009;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.637186;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180705940 rs200678459 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200678459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.453258;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200678459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.453258;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200678459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.453258;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180706141 rs538271863 CT C 100 PASS AC=61;AF=0.289936;AN=214;NS=2504;DP=17133;EAS_AF=0.2788;AMR_AF=0.3098;AFR_AF=0.2867;EUR_AF=0.33;SAS_AF=0.2505;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.289936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538271863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0311;AF_popmax=0.0463;AF_male=0.0302;AF_female=0.0323;AF_raw=0.0360;AF_afr=0.0168;AF_sas=.;AF_amr=0.0463;AF_eas=0.0038;AF_nfe=0.0382;AF_fin=0.0742;AF_asj=0.0694;AF_oth=0.0505;non_topmed_AF_popmax=0.0514;non_neuro_AF_popmax=0.0374;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0010373;Kaviar_AC=27;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 1|0 +3 196771513 rs34492126 G A 100 PASS AC=7;AF=0.0251597;AN=214;NS=2504;DP=17679;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.044;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2348T:p.P783L,DLG1:NM_001204387:exon22:c.C2384T:p.P795L,DLG1:NM_001204386:exon25:c.C2660T:p.P887L,DLG1:NM_001098424:exon26:c.C2696T:p.P899L,DLG1:NM_001290983:exon26:c.C2696T:p.P899L,DLG1:NM_004087:exon26:c.C2762T:p.P921L;1000g2015aug_all=0.0251597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34492126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.931;Polyphen2_HVAR_rankscore=0.649;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.49;MutationAssessor_score_rankscore=0.728;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-9.07;PROVEAN_converted_rankscore=0.982;PROVEAN_pred=D;VEST3_score=0.399;VEST3_rankscore=0.487;MetaSVM_score=-0.729;MetaSVM_rankscore=0.591;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_rankscore=0.226;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.273;REVEL_rankscore=0.593;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.635;CADD_raw_rankscore=0.621;CADD_phred=24.5;DANN_score=0.999;DANN_rankscore=0.938;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.812;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.790;Eigen-PC-raw=0.752;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.48;GERP++_RS_rankscore=0.806;phyloP100way_vertebrate=3.862;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.340;SiPhy_29way_logOdds_rankscore=0.902;Interpro_domain=Guanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase\x3bP-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0471;ExAC_nontcga_ALL=0.0433;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0173;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0537;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0547;AF=0.0418;AF_popmax=0.0561;AF_male=0.0387;AF_female=0.0455;AF_raw=0.0417;AF_afr=0.0090;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0561;AF_fin=0.0800;AF_asj=0.0483;AF_oth=0.0479;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0679;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196771521 rs199781716 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17710;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2340T:p.I780I,DLG1:NM_001204387:exon22:c.C2376T:p.I792I,DLG1:NM_001204386:exon25:c.C2652T:p.I884I,DLG1:NM_001098424:exon26:c.C2688T:p.I896I,DLG1:NM_001290983:exon26:c.C2688T:p.I896I,DLG1:NM_004087:exon26:c.C2754T:p.I918I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199781716;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.214e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196771554 rs35370245 T C 100 PASS AC=7;AF=0.0253594;AN=214;NS=2504;DP=17651;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.044;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.A2307G:p.K769K,DLG1:NM_001204387:exon22:c.A2343G:p.K781K,DLG1:NM_001204386:exon25:c.A2619G:p.K873K,DLG1:NM_001098424:exon26:c.A2655G:p.K885K,DLG1:NM_001290983:exon26:c.A2655G:p.K885K,DLG1:NM_004087:exon26:c.A2721G:p.K907K;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35370245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0470;ExAC_nontcga_ALL=0.0432;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0173;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0546;AF=0.0418;AF_popmax=0.0561;AF_male=0.0388;AF_female=0.0455;AF_raw=0.0418;AF_afr=0.0089;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0561;AF_fin=0.0801;AF_asj=0.0483;AF_oth=0.0479;non_topmed_AF_popmax=0.0584;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0679;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196778421 rs112212968 A C 100 PASS AC=3;AF=0.0115815;AN=214;NS=2504;DP=16145;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0242;EUR_AF=0.005;SAS_AF=0.0204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112212968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0177;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0260;AF=0.0063;AF_popmax=0.0165;AF_male=0.0064;AF_female=0.0063;AF_raw=0.0064;AF_afr=0.0165;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0022;AF_fin=0;AF_asj=0.0345;AF_oth=0.0074;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0186;non_cancer_AF_popmax=.;controls_AF_popmax=0.0175;Kaviar_AF=0.0074385;Kaviar_AC=1150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196778438 rs7629533 C T 100 PASS AC=57;AF=0.264577;AN=214;NS=2504;DP=16149;EAS_AF=0.0734;AMR_AF=0.2262;AFR_AF=0.3699;EUR_AF=0.2584;SAS_AF=0.3528;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7629533;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.28;ExAC_nontcga_ALL=0.2611;ExAC_nontcga_AFR=0.3648;ExAC_nontcga_AMR=0.1823;ExAC_nontcga_EAS=0.0743;ExAC_nontcga_FIN=0.1527;ExAC_nontcga_NFE=0.2668;ExAC_nontcga_OTH=0.2680;ExAC_nontcga_SAS=0.3716;AF=0.2643;AF_popmax=0.3654;AF_male=0.2704;AF_female=0.2566;AF_raw=0.2642;AF_afr=0.3654;AF_sas=.;AF_amr=0.2292;AF_eas=0.0635;AF_nfe=0.2587;AF_fin=0.1492;AF_asj=0.2931;AF_oth=0.2078;non_topmed_AF_popmax=0.3662;non_neuro_AF_popmax=0.3587;non_cancer_AF_popmax=.;controls_AF_popmax=0.3532;Kaviar_AF=0.258121;Kaviar_AC=39906;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 +3 196786804 rs560345963 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon19:c.C2124T:p.Y708Y,DLG1:NM_001204387:exon20:c.C2160T:p.Y720Y,DLG1:NM_001204386:exon23:c.C2436T:p.Y812Y,DLG1:NM_001098424:exon24:c.C2472T:p.Y824Y,DLG1:NM_001290983:exon24:c.C2472T:p.Y824Y,DLG1:NM_004087:exon24:c.C2538T:p.Y846Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560345963;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.426e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639192;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196792163 rs78190191 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19287;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon18:c.G2042A:p.R681Q,DLG1:NM_001204387:exon19:c.G2078A:p.R693Q,DLG1:NM_001204386:exon22:c.G2354A:p.R785Q,DLG1:NM_001098424:exon23:c.G2390A:p.R797Q,DLG1:NM_001290983:exon23:c.G2390A:p.R797Q,DLG1:NM_004087:exon23:c.G2456A:p.R819Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78190191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.1;SIFT_converted_rankscore=0.408;SIFT_pred=T;Polyphen2_HDIV_score=0.557;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_rankscore=0.529;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.450;MutationTaster_pred=D;MutationAssessor_score=1.285;MutationAssessor_score_rankscore=0.324;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_converted_rankscore=0.460;FATHMM_pred=T;PROVEAN_score=-3.12;PROVEAN_converted_rankscore=0.637;PROVEAN_pred=D;VEST3_score=0.188;VEST3_rankscore=0.278;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_rankscore=0.298;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.123;CADD_raw_rankscore=0.943;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.501;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.426;GenoCanyon_score=0.299;GenoCanyon_score_rankscore=0.192;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=2.039;phyloP100way_vertebrate_rankscore=0.406;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.454;SiPhy_29way_logOdds_rankscore=0.492;Interpro_domain=Guanylate_kinase,_conserved_site|Guanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase\x3bGuanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0245;ExAC_nontcga_ALL=0.0169;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0221;ExAC_nontcga_SAS=0.0086;AF=0.0167;AF_popmax=0.0240;AF_male=0.0146;AF_female=0.0195;AF_raw=0.0167;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0240;AF_fin=0.0263;AF_asj=0.0103;AF_oth=0.0276;non_topmed_AF_popmax=0.0255;non_neuro_AF_popmax=0.0241;non_cancer_AF_popmax=.;controls_AF_popmax=0.0256;Kaviar_AF=0.0165781;Kaviar_AC=2563;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262715|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196793475 rs41284053 A T 100 PASS AC=7;AF=0.0289537;AN=214;NS=2504;DP=15160;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0151;EUR_AF=0.0586;SAS_AF=0.044;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284053;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0448;AF_popmax=0.0584;AF_male=0.0423;AF_female=0.0479;AF_raw=0.0448;AF_afr=0.0150;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0584;AF_fin=0.0798;AF_asj=0.0590;AF_oth=0.0497;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0599;non_cancer_AF_popmax=.;controls_AF_popmax=0.0691;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262715|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196795292 rs139679630 TAATC T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196795342 rs145968258 A C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196796231 rs549466520 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196796248 rs141275079 TTTTC T 100 PASS AC=15;AF=0.0369409;AN=214;NS=2504;DP=14164;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.0023;EUR_AF=0.0497;SAS_AF=0.1135;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141275079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0303;AF_popmax=0.0447;AF_male=0.0304;AF_female=0.0302;AF_raw=0.0306;AF_afr=0.0098;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0200;AF_asj=0.1146;AF_oth=0.0471;non_topmed_AF_popmax=0.0442;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0412;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196802740 rs200527966 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17267;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon14:c.A1658G:p.E553G,DLG1:NM_001204388:exon14:c.A1658G:p.E553G,DLG1:NM_001098424:exon19:c.A2006G:p.E669G,DLG1:NM_001290983:exon19:c.A2006G:p.E669G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200527966;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.215;SIFT_converted_rankscore=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-1.59;FATHMM_converted_rankscore=0.821;FATHMM_pred=D;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.625;VEST3_rankscore=0.665;MetaSVM_score=-0.722;MetaSVM_rankscore=0.594;MetaSVM_pred=T;MetaLR_score=0.297;MetaLR_rankscore=0.669;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.570;M-CAP_pred=D;REVEL_score=0.298;REVEL_rankscore=0.622;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.048;CADD_raw_rankscore=0.307;CADD_phred=16.52;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.771;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.101;Eigen-PC-raw=0.162;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=6.682;phyloP100way_vertebrate_rankscore=0.742;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.330;SiPhy_29way_logOdds_rankscore=0.738;Interpro_domain=PDZ_domain\x3bSH3_domain\x3bSH3_domain|Variant_SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0137;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.488e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.734434;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196803647 rs12632559 T C 100 PASS AC=63;AF=0.252596;AN=214;NS=2504;DP=19006;EAS_AF=0.622;AMR_AF=0.2003;AFR_AF=0.0151;EUR_AF=0.2893;SAS_AF=0.1922;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12632559;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2326;AF_popmax=0.6316;AF_male=0.2297;AF_female=0.2363;AF_raw=0.2327;AF_afr=0.0515;AF_sas=.;AF_amr=0.1899;AF_eas=0.6316;AF_nfe=0.2817;AF_fin=0.2958;AF_asj=0.1469;AF_oth=0.2726;non_topmed_AF_popmax=0.6303;non_neuro_AF_popmax=0.6316;non_cancer_AF_popmax=.;controls_AF_popmax=0.6261;Kaviar_AF=0.0520368;Kaviar_AC=8045;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.057768;ALLELE_END GT 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 +3 196807928 rs35430440 A C 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16092;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35430440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_converted_rankscore=0.313;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.380;LRT_pred=N;MutationTaster_score=0.975;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=-0.57;MutationAssessor_score_rankscore=0.023;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_converted_rankscore=0.822;FATHMM_pred=D;PROVEAN_score=-1.17;PROVEAN_converted_rankscore=0.299;PROVEAN_pred=N;VEST3_score=0.025;VEST3_rankscore=0.010;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_rankscore=0.415;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.923;CADD_raw_rankscore=0.292;CADD_phred=15.73;DANN_score=0.978;DANN_rankscore=0.354;fathmm-MKL_coding_score=0.568;fathmm-MKL_coding_rankscore=0.299;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.698;Eigen-PC-raw=-0.497;GenoCanyon_score=0.129;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.47;GERP++_RS_rankscore=0.290;phyloP100way_vertebrate=0.146;phyloP100way_vertebrate_rankscore=0.159;phyloP20way_mammalian=0.157;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.976;phastCons100way_vertebrate_rankscore=0.346;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=4.871;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=PDZ_domain\x3bSH3_domain\x3bSH3_domain|Variant_SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0056;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0009;AF=0.0064;AF_popmax=0.0100;AF_male=0.0071;AF_female=0.0056;AF_raw=0.0064;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0052;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0099;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0076713;Kaviar_AC=1186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.870038;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196808026 rs201168091 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201168091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196817735 rs77261739 A T 100 PASS AC=7;AF=0.029353;AN=214;NS=2504;DP=13914;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0166;EUR_AF=0.0577;SAS_AF=0.044;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.029353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77261739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0502;ExAC_nontcga_ALL=0.0465;ExAC_nontcga_AFR=0.0243;ExAC_nontcga_AMR=0.0217;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0716;ExAC_nontcga_NFE=0.0562;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0553;AF=0.0468;AF_popmax=0.0583;AF_male=0.0440;AF_female=0.0503;AF_raw=0.0469;AF_afr=0.0221;AF_sas=.;AF_amr=0.0330;AF_eas=0;AF_nfe=0.0583;AF_fin=0.0800;AF_asj=0.0586;AF_oth=0.0497;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0599;non_cancer_AF_popmax=.;controls_AF_popmax=0.0690;Kaviar_AF=0.0447019;Kaviar_AC=6911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262717|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196831946 rs78225142 C T 100 PASS AC=3;AF=0.00738818;AN=214;NS=2504;DP=17383;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78225142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0133;AF_popmax=0.0185;AF_male=0.0125;AF_female=0.0142;AF_raw=0.0132;AF_afr=0.0028;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0248;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0190;Kaviar_AF=0.0024256;Kaviar_AC=375;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196846378 rs143253568 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18466;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon8:c.C940T:p.H314Y,DLG1:NM_001204388:exon8:c.C940T:p.H314Y,DLG1:NM_001204386:exon12:c.C1189T:p.H397Y,DLG1:NM_001098424:exon13:c.C1288T:p.H430Y,DLG1:NM_001290983:exon13:c.C1288T:p.H430Y,DLG1:NM_004087:exon13:c.C1288T:p.H430Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.124;SIFT_converted_rankscore=0.285;SIFT_pred=T;Polyphen2_HDIV_score=0.13;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_rankscore=0.259;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.475;MutationAssessor_score_rankscore=0.721;MutationAssessor_pred=M;FATHMM_score=2.51;FATHMM_converted_rankscore=0.152;FATHMM_pred=T;PROVEAN_score=-3.35;PROVEAN_converted_rankscore=0.730;PROVEAN_pred=D;VEST3_score=0.658;VEST3_rankscore=0.696;MetaSVM_score=-1.030;MetaSVM_rankscore=0.206;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_rankscore=0.221;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.374;M-CAP_pred=T;REVEL_score=0.195;REVEL_rankscore=0.481;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.660;CADD_raw_rankscore=0.381;CADD_phred=20.6;DANN_score=0.989;DANN_rankscore=0.478;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.934;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.299;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=7.260;phyloP100way_vertebrate_rankscore=0.776;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.983;SiPhy_29way_logOdds_rankscore=0.890;Interpro_domain=PDZ_domain\x3bPDZ-associated_domain_of_NMDA_receptors;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.892e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.539963;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196846437 rs6776073 C T 100 PASS AC=34;AF=0.0794728;AN=214;NS=2504;DP=19374;EAS_AF=0.0169;AMR_AF=0.0663;AFR_AF=0.084;EUR_AF=0.1571;SAS_AF=0.0675;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0794728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6776073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1755;ExAC_nontcga_ALL=0.1455;ExAC_nontcga_AFR=0.1069;ExAC_nontcga_AMR=0.0927;ExAC_nontcga_EAS=0.0217;ExAC_nontcga_FIN=0.1684;ExAC_nontcga_NFE=0.2002;ExAC_nontcga_OTH=0.1397;ExAC_nontcga_SAS=0.0781;AF=0.1424;AF_popmax=0.1737;AF_male=0.1428;AF_female=0.1418;AF_raw=0.1424;AF_afr=0.1016;AF_sas=.;AF_amr=0.1002;AF_eas=0.0205;AF_nfe=0.1737;AF_fin=0.1577;AF_asj=0.2345;AF_oth=0.1581;non_topmed_AF_popmax=0.1757;non_neuro_AF_popmax=0.1724;non_cancer_AF_popmax=.;controls_AF_popmax=0.1698;Kaviar_AF=0.129972;Kaviar_AC=20094;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196865242 rs1134986 C T 100 PASS AC=38;AF=0.127995;AN=214;NS=2504;DP=11825;EAS_AF=0.0714;AMR_AF=0.1225;AFR_AF=0.0106;EUR_AF=0.1441;SAS_AF=0.3323;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon5:c.G485A:p.R162Q,DLG1:NM_001204388:exon5:c.G485A:p.R162Q,DLG1:NM_001204386:exon9:c.G734A:p.R245Q,DLG1:NM_001098424:exon10:c.G833A:p.R278Q,DLG1:NM_001290983:exon10:c.G833A:p.R278Q,DLG1:NM_004087:exon10:c.G833A:p.R278Q;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1134986;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.195;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.579;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_rankscore=0.679;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.075;MutationAssessor_score_rankscore=0.048;MutationAssessor_pred=N;FATHMM_score=1.74;FATHMM_converted_rankscore=0.263;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.585;PROVEAN_pred=N;VEST3_score=0.499;VEST3_rankscore=0.589;MetaSVM_score=-1.128;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.417;CADD_raw_rankscore=0.591;CADD_phred=24.2;DANN_score=0.999;DANN_rankscore=0.936;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.843;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.482;Eigen-PC-raw=0.565;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=5.822;phyloP100way_vertebrate_rankscore=0.687;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.317;SiPhy_29way_logOdds_rankscore=0.901;Interpro_domain=Disks_large_homologue_1,_N-terminal_PEST_domain\x3bPDZ_domain;GTEx_V6p_gene=ENSG00000075711.16|ENSG00000075711.16|ENSG00000075711.16;GTEx_V6p_tissue=Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1578;ExAC_nontcga_AFR=0.0279;ExAC_nontcga_AMR=0.1287;ExAC_nontcga_EAS=0.0721;ExAC_nontcga_FIN=0.1064;ExAC_nontcga_NFE=0.1488;ExAC_nontcga_OTH=0.1729;ExAC_nontcga_SAS=0.3400;AF=0.0996;AF_popmax=0.1393;AF_male=0.1021;AF_female=0.0966;AF_raw=0.0995;AF_afr=0.0270;AF_sas=.;AF_amr=0.1393;AF_eas=0.0623;AF_nfe=0.1376;AF_fin=0.1046;AF_asj=0.2014;AF_oth=0.1259;non_topmed_AF_popmax=0.1397;non_neuro_AF_popmax=0.1372;non_cancer_AF_popmax=.;controls_AF_popmax=0.1281;Kaviar_AF=0.149519;Kaviar_AC=23116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 +3 196865301 rs115934144 A G 100 PASS AC=7;AF=0.0255591;AN=214;NS=2504;DP=8393;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.046;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0255591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115934144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1156;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0986;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1794;ExAC_nontcga_OTH=0.0776;ExAC_nontcga_SAS=0.0986;AF=0.0413;AF_popmax=0.0557;AF_male=0.0382;AF_female=0.0453;AF_raw=0.0413;AF_afr=0.0087;AF_sas=.;AF_amr=0.0301;AF_eas=0;AF_nfe=0.0557;AF_fin=0.0890;AF_asj=0.0496;AF_oth=0.047;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0571;non_cancer_AF_popmax=.;controls_AF_popmax=0.0698;Kaviar_AF=0.028803;Kaviar_AC=4453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196869518 rs9866058 T C 100 PASS AC=57;AF=0.257188;AN=214;NS=2504;DP=15858;EAS_AF=0.0784;AMR_AF=0.2248;AFR_AF=0.3238;EUR_AF=0.2594;SAS_AF=0.3722;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9866058;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2719;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2554;AF_popmax=0.3251;AF_male=0.2618;AF_female=0.2475;AF_raw=0.2556;AF_afr=0.3251;AF_sas=.;AF_amr=0.2334;AF_eas=0.0699;AF_nfe=0.2615;AF_fin=0.1516;AF_asj=0.3147;AF_oth=0.2114;non_topmed_AF_popmax=0.3260;non_neuro_AF_popmax=0.3261;non_cancer_AF_popmax=.;controls_AF_popmax=0.3177;Kaviar_AF=0.051707;Kaviar_AC=7994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 +3 196869688 rs7628652 A G 100 PASS AC=214;AF=0.993211;AN=214;NS=2504;DP=17292;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.975;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.993211;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7628652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9987;ExAC_nontcga_AFR=0.9845;ExAC_nontcga_AMR=0.9995;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9956;AF_popmax=1;AF_male=0.9956;AF_female=0.9955;AF_raw=0.9955;AF_afr=0.9845;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.944309;Kaviar_AC=145992;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 196876600 rs73210523 G A 100 PASS AC=34;AF=0.0766773;AN=214;NS=2504;DP=17759;EAS_AF=0.0169;AMR_AF=0.0663;AFR_AF=0.0726;EUR_AF=0.1581;SAS_AF=0.0675;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0766773;GWAS=rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396;ORegAnno_REGULATORY_P=rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396;avsnp150=rs73210523;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1783;ExAC_nontcga_ALL=0.1304;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0756;ExAC_nontcga_EAS=0.0196;ExAC_nontcga_FIN=0.1602;ExAC_nontcga_NFE=0.1795;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.0711;AF=0.1387;AF_popmax=0.1735;AF_male=0.1394;AF_female=0.1378;AF_raw=0.1388;AF_afr=0.0889;AF_sas=.;AF_amr=0.1005;AF_eas=0.0205;AF_nfe=0.1735;AF_fin=0.1575;AF_asj=0.2345;AF_oth=0.1584;non_topmed_AF_popmax=0.1753;non_neuro_AF_popmax=0.1721;non_cancer_AF_popmax=.;controls_AF_popmax=0.1691;Kaviar_AF=0.135134;Kaviar_AC=20892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196876717 rs188496910 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18139;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188496910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0013;AF=0.0015;AF_popmax=0.0027;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0027;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0019081;Kaviar_AC=295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196876775 rs149672384 T TTA 100 PASS AC=34;AF=0.105032;AN=214;NS=2504;DP=18358;EAS_AF=0.0169;AMR_AF=0.0764;AFR_AF=0.1747;EUR_AF=0.1581;SAS_AF=0.0675;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.105032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149672384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1624;AF_popmax=0.1736;AF_male=0.1636;AF_female=0.1609;AF_raw=0.1628;AF_afr=0.1736;AF_sas=.;AF_amr=0.1061;AF_eas=0.0205;AF_nfe=0.1734;AF_fin=0.1576;AF_asj=0.2292;AF_oth=0.1624;non_topmed_AF_popmax=0.1752;non_neuro_AF_popmax=0.1727;non_cancer_AF_popmax=.;controls_AF_popmax=0.1745;Kaviar_AF=0.0237437;Kaviar_AC=618;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196921360 rs1802668 T C 100 PASS AC=13;AF=0.0145767;AN=214;NS=2504;DP=14501;EAS_AF=0.001;AMR_AF=0.0202;AFR_AF=0.0008;EUR_AF=0.0487;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon5:c.A419G:p.K140R,DLG1:NM_001204386:exon5:c.A419G:p.K140R,DLG1:NM_001290983:exon5:c.A419G:p.K140R,DLG1:NM_004087:exon5:c.A419G:p.K140R;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1802668;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.153;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.156;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.229;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.135;MutationAssessor_score_rankscore=0.291;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_converted_rankscore=0.535;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.311;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_rankscore=0.137;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.040;CADD_raw_rankscore=0.306;CADD_phred=16.47;DANN_score=0.996;DANN_rankscore=0.725;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.803;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.010;Eigen-PC-raw=0.207;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.674;phyloP100way_vertebrate_rankscore=0.830;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.867;SiPhy_29way_logOdds_rankscore=0.699;Interpro_domain=Disks_large_homologue_1,_N-terminal_PEST_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0443;ExAC_nontcga_ALL=0.0311;ExAC_nontcga_AFR=0.0078;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0475;ExAC_nontcga_NFE=0.0464;ExAC_nontcga_OTH=0.0436;ExAC_nontcga_SAS=0.0081;AF=0.0343;AF_popmax=0.0504;AF_male=0.0346;AF_female=0.0338;AF_raw=0.0343;AF_afr=0.0071;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0504;AF_fin=0.0501;AF_asj=0.0103;AF_oth=0.0358;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0493;non_cancer_AF_popmax=.;controls_AF_popmax=0.0509;Kaviar_AF=0.0323476;Kaviar_AC=5001;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 +3 196921477 rs191305003 C T 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=14958;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191305003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0042;AF=0.0001;AF_popmax=0.0003;AF_male=5.727e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 197009609 rs199887410 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12882;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon4:c.C259T:p.L87F,DLG1:NM_001204386:exon4:c.C259T:p.L87F,DLG1:NM_001290983:exon4:c.C259T:p.L87F,DLG1:NM_004087:exon4:c.C259T:p.L87F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199887410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.159;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.883;Polyphen2_HDIV_rankscore=0.466;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.397;Polyphen2_HVAR_rankscore=0.426;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.484;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=2.55;FATHMM_converted_rankscore=0.481;FATHMM_pred=T;PROVEAN_score=-0.41;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.575;MetaSVM_score=-1.064;MetaSVM_rankscore=0.107;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.357;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.457;M-CAP_pred=T;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.090;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.996;DANN_rankscore=0.751;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.806;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.112;Eigen-PC-raw=0.293;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.745;integrated_fitCons_score_rankscore=0.986;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.606;phyloP100way_vertebrate_rankscore=0.738;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.589;SiPhy_29way_logOdds_rankscore=0.911;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.541e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004588|hsa-miR-27b-5p|Experimental,MIMAT0000419|hsa-miR-27b-3p|Experimental,MIMAT0000232|hsa-miR-199a-3p|Experimental,MIMAT0000424|hsa-miR-128-3p|Experimental,MIMAT0004563|hsa-miR-199b-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.999583;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 113825680 rs559634150 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559634150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.543641;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 113971067 rs187109060 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21439;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187109060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0024;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000172116|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.677334;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114117472 rs2285710 C T 100 PASS AC=31;AF=0.179113;AN=214;NS=2504;DP=15884;EAS_AF=0.2282;AMR_AF=0.1744;AFR_AF=0.202;EUR_AF=0.1372;SAS_AF=0.1442;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2285710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1697;AF_popmax=0.2342;AF_male=0.1688;AF_female=0.1709;AF_raw=0.1705;AF_afr=0.1900;AF_sas=.;AF_amr=0.1415;AF_eas=0.2342;AF_nfe=0.1482;AF_fin=0.1910;AF_asj=0.2207;AF_oth=0.1608;non_topmed_AF_popmax=0.2341;non_neuro_AF_popmax=0.2342;non_cancer_AF_popmax=.;controls_AF_popmax=0.2374;Kaviar_AF=0.0300449;Kaviar_AC=4645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.032597;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114117474 rs3214164 A AT 100 PASS AC=31;AF=0.179113;AN=214;NS=2504;DP=15739;EAS_AF=0.2282;AMR_AF=0.1744;AFR_AF=0.202;EUR_AF=0.1372;SAS_AF=0.1442;AA=TTTC|TTTT|TTTTT|complex_insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1624;ExAC_nontcga_AFR=0.1907;ExAC_nontcga_AMR=0.1570;ExAC_nontcga_EAS=0.2486;ExAC_nontcga_FIN=0.1914;ExAC_nontcga_NFE=0.1522;ExAC_nontcga_OTH=0.1642;ExAC_nontcga_SAS=0.1308;AF=0.1699;AF_popmax=0.2349;AF_male=0.1690;AF_female=0.1709;AF_raw=0.1706;AF_afr=0.1901;AF_sas=.;AF_amr=0.1415;AF_eas=0.2349;AF_nfe=0.1484;AF_fin=0.1908;AF_asj=0.2207;AF_oth=0.1605;non_topmed_AF_popmax=0.2348;non_neuro_AF_popmax=0.2349;non_cancer_AF_popmax=.;controls_AF_popmax=0.2368;Kaviar_AF=0.0047735;Kaviar_AC=738;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.032597;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114120284 rs45502093 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114158111 rs184546893 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19132;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184546893;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.121e-05;AF=0.0003;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114158395 rs570754329 TA T 100 PASS AC=3;AF=0.0107827;AN=214;NS=2504;DP=18982;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.003;EUR_AF=0.0308;SAS_AF=0.0031;AA=AAA|AAA|AA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201519224;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0294;AF_popmax=0.0376;AF_male=0.0265;AF_female=0.0330;AF_raw=0.0294;AF_afr=0.0077;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0376;AF_fin=0.0604;AF_asj=0.0103;AF_oth=0.0441;non_topmed_AF_popmax=0.0418;non_neuro_AF_popmax=0.0364;non_cancer_AF_popmax=.;controls_AF_popmax=0.0479;Kaviar_AF=0.0038036;Kaviar_AC=99;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.301541;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114161619 rs45616931 T C 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=16651;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45616931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0055;AF=0.0071;AF_popmax=0.0121;AF_male=0.0066;AF_female=0.0077;AF_raw=0.0071;AF_afr=0.0022;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.007626;Kaviar_AC=1179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.413888;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114171076 rs3025734 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114176848 rs34725737 GA G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=22981;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0.001;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34725737;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1409;ExAC_nontcga_ALL=0.1998;ExAC_nontcga_AFR=0.2071;ExAC_nontcga_AMR=0.2583;ExAC_nontcga_EAS=0.1820;ExAC_nontcga_FIN=0.0956;ExAC_nontcga_NFE=0.2083;ExAC_nontcga_OTH=0.175;ExAC_nontcga_SAS=0.1840;AF=0.0420;AF_popmax=0.1026;AF_male=0.0424;AF_female=0.0415;AF_raw=0.0365;AF_afr=0.0451;AF_sas=.;AF_amr=0.1026;AF_eas=0.0206;AF_nfe=0.0393;AF_fin=0.0403;AF_asj=0.0583;AF_oth=0.0460;non_topmed_AF_popmax=0.1031;non_neuro_AF_popmax=0.0826;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879617;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114176850 rs555031420 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19310;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555031420;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.075e-05;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0006;AF_male=0.0003;AF_female=7.944e-05;AF_raw=0.0002;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879617;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114179348 rs45455305 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21219;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45455305;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.633578;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114186005 rs29413 C T 100 PASS AC=3;AF=0.0291534;AN=214;NS=2504;DP=19009;EAS_AF=0.0724;AMR_AF=0.0331;AFR_AF=0.0038;EUR_AF=0.0328;SAS_AF=0.0123;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0291534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29413;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0318;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0934;ExAC_nontcga_FIN=0.0789;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0113;AF=0.0325;AF_popmax=0.0667;AF_male=0.0316;AF_female=0.0337;AF_raw=0.0326;AF_afr=0.0064;AF_sas=.;AF_amr=0.0295;AF_eas=0.0667;AF_nfe=0.0412;AF_fin=0.0431;AF_asj=0;AF_oth=0.0470;non_topmed_AF_popmax=0.0664;non_neuro_AF_popmax=0.0667;non_cancer_AF_popmax=.;controls_AF_popmax=0.0633;Kaviar_AF=0.0125483;Kaviar_AC=1940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.147601;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114186067 rs142159132 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16482;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon14:c.A1401G:p.A467A,ANK2:NM_020977:exon14:c.A1401G:p.A467A,ANK2:NM_001127493:exon15:c.A1338G:p.A446A;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142159132;CLNALLELEID=239302;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0095;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0017;AF_popmax=0.0035;AF_male=0.0015;AF_female=0.0019;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0028;AF_fin=0;AF_asj=0.0103;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0017464;Kaviar_AC=270;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.833615;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114209691 rs29357 C T 100 PASS AC=28;AF=0.0790735;AN=214;NS=2504;DP=17830;EAS_AF=0.0625;AMR_AF=0.1268;AFR_AF=0.0061;EUR_AF=0.1113;SAS_AF=0.1278;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0790735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1069;ExAC_nontcga_ALL=0.1068;ExAC_nontcga_AFR=0.0198;ExAC_nontcga_AMR=0.1064;ExAC_nontcga_EAS=0.0652;ExAC_nontcga_FIN=0.1821;ExAC_nontcga_NFE=0.1182;ExAC_nontcga_OTH=0.1413;ExAC_nontcga_SAS=0.1059;AF=0.0881;AF_popmax=0.1067;AF_male=0.0858;AF_female=0.0910;AF_raw=0.0882;AF_afr=0.0201;AF_sas=.;AF_amr=0.1019;AF_eas=0.0552;AF_nfe=0.1067;AF_fin=0.1710;AF_asj=0.1897;AF_oth=0.1133;non_topmed_AF_popmax=0.1043;non_neuro_AF_popmax=0.1064;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.101059;Kaviar_AC=15624;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.756851;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114209732 rs29356 T C 100 PASS AC=32;AF=0.177716;AN=214;NS=2504;DP=17885;EAS_AF=0.1687;AMR_AF=0.1571;AFR_AF=0.2436;EUR_AF=0.1203;SAS_AF=0.1718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.177716;GWAS=rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255;ORegAnno_REGULATORY_P=rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255;avsnp150=rs29356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1575;AF_popmax=0.2258;AF_male=0.1575;AF_female=0.1574;AF_raw=0.1580;AF_afr=0.2258;AF_sas=.;AF_amr=0.1232;AF_eas=0.1857;AF_nfe=0.1139;AF_fin=0.1761;AF_asj=0.2034;AF_oth=0.1425;non_topmed_AF_popmax=0.2260;non_neuro_AF_popmax=0.2218;non_cancer_AF_popmax=.;controls_AF_popmax=0.2185;Kaviar_AF=0.137659;Kaviar_AC=3583;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.949094;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114213551 rs55706912 C T 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=18814;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55706912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0187;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0237;ExAC_nontcga_SAS=0.0351;AF=0.0073;AF_popmax=0.0115;AF_male=0.0073;AF_female=0.0073;AF_raw=0.0074;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0105497;Kaviar_AC=1631;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.581974;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213561 rs146312675 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19046;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146312675;CLNALLELEID=296808;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.056;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0027;ExAC_nontcga_SAS=0;AF=0.0047;AF_popmax=0.0082;AF_male=0.0046;AF_female=0.0048;AF_raw=0.0047;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0079;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0046312;Kaviar_AC=716;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.753507;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213631 rs29341 C T 100 PASS AC=5;AF=0.0215655;AN=214;NS=2504;DP=18067;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0325;EUR_AF=0.0368;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon21:c.C2337T:p.V779V,ANK2:NM_020977:exon21:c.C2337T:p.V779V,ANK2:NM_001127493:exon22:c.C2274T:p.V758V;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29341;CLNALLELEID=258338;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0366;ExAC_nontcga_ALL=0.0356;ExAC_nontcga_AFR=0.0368;ExAC_nontcga_AMR=0.0207;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0719;ExAC_nontcga_NFE=0.0442;ExAC_nontcga_OTH=0.0483;ExAC_nontcga_SAS=0.0215;AF=0.0401;AF_popmax=0.0456;AF_male=0.0378;AF_female=0.0430;AF_raw=0.0402;AF_afr=0.0296;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0456;AF_fin=0.0633;AF_asj=0.0172;AF_oth=0.0460;non_topmed_AF_popmax=0.0501;non_neuro_AF_popmax=0.0450;non_cancer_AF_popmax=.;controls_AF_popmax=0.0582;Kaviar_AF=0.0284343;Kaviar_AC=4396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911971;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213705 rs72556366 C T 100 PASS AC=9;AF=0.00499201;AN=214;NS=2504;DP=19338;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72556366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0122;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0154;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0056;AF=0.0067;AF_popmax=0.0102;AF_male=0.0063;AF_female=0.0071;AF_raw=0.0067;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0049;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.340453;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +4 114214524 rs60004829 G T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=23071;EAS_AF=0;AMR_AF=0;AFR_AF=0.0166;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60004829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0031;AF_popmax=0.0105;AF_male=0.0033;AF_female=0.0029;AF_raw=0.0031;AF_afr=0.0105;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0113;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795619|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.835521;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114214588 rs139893914 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19361;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139893914;CLNALLELEID=140089;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0003;AF=0.0054;AF_popmax=0.0094;AF_male=0.0052;AF_female=0.0057;AF_raw=0.0054;AF_afr=0.0026;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0012;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0018176;Kaviar_AC=281;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795619|N/A|RBL2|PAZAR,OREG1777184|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.716817;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114254240 rs56173868 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=21549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon29:c.G3255T:p.A1085A,ANK2:NM_020977:exon29:c.G3255T:p.A1085A,ANK2:NM_001127493:exon31:c.G3228T:p.A1076A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173868;CLNALLELEID=221429;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0016;AF_popmax=0.0003;AF_male=0.0012;AF_female=0.0020;AF_raw=0.0016;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0115;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.846688;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114254322 rs150841275 A G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23471;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon29:c.A3337G:p.T1113A,ANK2:NM_020977:exon29:c.A3337G:p.T1113A,ANK2:NM_001127493:exon31:c.A3310G:p.T1104A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150841275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.226;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.886;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.87;MutationAssessor_score_rankscore=0.498;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.760;FATHMM_pred=T;PROVEAN_score=-2.66;PROVEAN_converted_rankscore=0.632;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=0.053;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.524;MetaLR_rankscore=0.823;MetaLR_pred=D;M-CAP_score=0.069;M-CAP_rankscore=0.708;M-CAP_pred=D;REVEL_score=0.350;REVEL_rankscore=0.675;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.396;CADD_raw_rankscore=0.349;CADD_phred=18.79;DANN_score=0.914;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.853;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.313;phyloP100way_vertebrate_rankscore=0.781;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.189;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=15.230;SiPhy_29way_logOdds_rankscore=0.730;Interpro_domain=Ankyrin_repeat-containing_domain\x3bZU5_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.706599;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114257201 rs3736575 C T 100 PASS AC=19;AF=0.260383;AN=214;NS=2504;DP=17320;EAS_AF=0.1161;AMR_AF=0.2017;AFR_AF=0.6241;EUR_AF=0.1014;SAS_AF=0.1227;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon30:c.C3579T:p.R1193R,ANK2:NM_020977:exon30:c.C3579T:p.R1193R,ANK2:NM_001127493:exon32:c.C3552T:p.R1184R;1000g2015aug_all=0.260383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3736575;CLNALLELEID=140093;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1038;ExAC_nontcga_ALL=0.1465;ExAC_nontcga_AFR=0.5567;ExAC_nontcga_AMR=0.1419;ExAC_nontcga_EAS=0.1217;ExAC_nontcga_FIN=0.0626;ExAC_nontcga_NFE=0.0981;ExAC_nontcga_OTH=0.1228;ExAC_nontcga_SAS=0.1300;AF=0.2248;AF_popmax=0.5470;AF_male=0.2317;AF_female=0.2161;AF_raw=0.2253;AF_afr=0.5470;AF_sas=.;AF_amr=0.1327;AF_eas=0.1351;AF_nfe=0.1040;AF_fin=0.0645;AF_asj=0.0621;AF_oth=0.1211;non_topmed_AF_popmax=0.5478;non_neuro_AF_popmax=0.5461;non_cancer_AF_popmax=.;controls_AF_popmax=0.5517;Kaviar_AF=0.142657;Kaviar_AC=22055;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755460;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114257694 rs571618900 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15223;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571618900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114260492 rs2272231 G T 100 PASS AC=19;AF=0.228634;AN=214;NS=2504;DP=19098;EAS_AF=0.1151;AMR_AF=0.1974;AFR_AF=0.5083;EUR_AF=0.1004;SAS_AF=0.1217;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272231;CLNALLELEID=140094;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1044;ExAC_nontcga_ALL=0.1382;ExAC_nontcga_AFR=0.4694;ExAC_nontcga_AMR=0.1393;ExAC_nontcga_EAS=0.1218;ExAC_nontcga_FIN=0.0625;ExAC_nontcga_NFE=0.0986;ExAC_nontcga_OTH=0.1182;ExAC_nontcga_SAS=0.125;AF=0.2029;AF_popmax=0.4668;AF_male=0.2068;AF_female=0.1980;AF_raw=0.2033;AF_afr=0.4668;AF_sas=.;AF_amr=0.1339;AF_eas=0.1337;AF_nfe=0.1050;AF_fin=0.0648;AF_asj=0.0655;AF_oth=0.1169;non_topmed_AF_popmax=0.4673;non_neuro_AF_popmax=0.4697;non_cancer_AF_popmax=.;controls_AF_popmax=0.4723;Kaviar_AF=0.134468;Kaviar_AC=20789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086178|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.343325;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114260538 rs2272230 C T 100 PASS AC=19;AF=0.230032;AN=214;NS=2504;DP=18944;EAS_AF=0.1151;AMR_AF=0.1974;AFR_AF=0.5136;EUR_AF=0.1004;SAS_AF=0.1217;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2030;AF_popmax=0.4672;AF_male=0.2070;AF_female=0.1980;AF_raw=0.2033;AF_afr=0.4672;AF_sas=.;AF_amr=0.1336;AF_eas=0.1327;AF_nfe=0.1047;AF_fin=0.0645;AF_asj=0.0655;AF_oth=0.1167;non_topmed_AF_popmax=0.4678;non_neuro_AF_popmax=0.4707;non_cancer_AF_popmax=.;controls_AF_popmax=0.4732;Kaviar_AF=0.0262804;Kaviar_AC=4063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086178|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114263101 rs62313243 T G 100 PASS AC=34;AF=0.0479233;AN=214;NS=2504;DP=16576;EAS_AF=0;AMR_AF=0.0865;AFR_AF=0.0083;EUR_AF=0.1322;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62313243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1369;ExAC_nontcga_ALL=0.0958;ExAC_nontcga_AFR=0.0207;ExAC_nontcga_AMR=0.0579;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1187;ExAC_nontcga_NFE=0.1348;ExAC_nontcga_OTH=0.1067;ExAC_nontcga_SAS=0.0653;AF=0.0860;AF_popmax=0.1237;AF_male=0.0855;AF_female=0.0866;AF_raw=0.0860;AF_afr=0.0217;AF_sas=.;AF_amr=0.0723;AF_eas=0;AF_nfe=0.1237;AF_fin=0.1149;AF_asj=0.0828;AF_oth=0.1105;non_topmed_AF_popmax=0.1230;non_neuro_AF_popmax=0.1217;non_cancer_AF_popmax=.;controls_AF_popmax=0.1124;Kaviar_AF=0.0940673;Kaviar_AC=14543;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.613844;ALLELE_END GT 1|1 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 +4 114267023 rs9968405 G A 100 PASS AC=214;AF=0.9998;AN=214;NS=2504;DP=20096;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=0.999;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.9998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9968405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9997;ExAC_nontcga_ALL=0.9998;ExAC_nontcga_AFR=0.9999;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9997;AF_popmax=1;AF_male=0.9997;AF_female=0.9998;AF_raw=0.9997;AF_afr=0.9999;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.973843;Kaviar_AC=150558;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.556547;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +4 114269499 rs534890560 T G 100 PASS AC=19;AF=0.0894569;AN=214;NS=2504;DP=18894;EAS_AF=0.2143;AMR_AF=0.0865;AFR_AF=0.0212;EUR_AF=0.1372;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0894569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534890560;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0028978;Kaviar_AC=448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.524547;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114269509 rs2272234 G A 100 PASS AC=3;AF=0.0960463;AN=214;NS=2504;DP=18518;EAS_AF=0.0456;AMR_AF=0.0389;AFR_AF=0.2814;EUR_AF=0.0209;SAS_AF=0.0153;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0960463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272234;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0213;ExAC_nontcga_ALL=0.0404;ExAC_nontcga_AFR=0.2464;ExAC_nontcga_AMR=0.0187;ExAC_nontcga_EAS=0.0487;ExAC_nontcga_FIN=0.0084;ExAC_nontcga_NFE=0.0186;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0229;AF=0.0849;AF_popmax=0.2514;AF_male=0.0865;AF_female=0.0830;AF_raw=0.0848;AF_afr=0.2514;AF_sas=.;AF_amr=0.0367;AF_eas=0.0501;AF_nfe=0.0182;AF_fin=0.0124;AF_asj=0.0172;AF_oth=0.0359;non_topmed_AF_popmax=0.2512;non_neuro_AF_popmax=0.2559;non_cancer_AF_popmax=.;controls_AF_popmax=0.2471;Kaviar_AF=0.0393721;Kaviar_AC=6087;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.607284;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114269552 rs2272235 G A 100 PASS AC=38;AF=0.284744;AN=214;NS=2504;DP=18689;EAS_AF=0.1151;AMR_AF=0.2406;AFR_AF=0.6339;EUR_AF=0.169;SAS_AF=0.138;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.284744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2664;AF_popmax=0.5604;AF_male=0.2728;AF_female=0.2584;AF_raw=0.2664;AF_afr=0.5604;AF_sas=.;AF_amr=0.1762;AF_eas=0.1356;AF_nfe=0.1606;AF_fin=0.1203;AF_asj=0.1759;AF_oth=0.1719;non_topmed_AF_popmax=0.5611;non_neuro_AF_popmax=0.5601;non_cancer_AF_popmax=.;controls_AF_popmax=0.5650;Kaviar_AF=0.0361056;Kaviar_AC=5582;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.655079;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275177 rs202045447 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5403G:p.T1801T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202045447;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.640615;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275243 rs33966911 C T 100 PASS AC=24;AF=0.0389377;AN=214;NS=2504;DP=18608;EAS_AF=0.001;AMR_AF=0.0591;AFR_AF=0.0098;EUR_AF=0.1213;SAS_AF=0.0184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5469T:p.P1823P;1000g2015aug_all=0.0389377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33966911;CLNALLELEID=251312;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1119;ExAC_nontcga_ALL=0.0773;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0502;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1064;ExAC_nontcga_NFE=0.1145;ExAC_nontcga_OTH=0.1066;ExAC_nontcga_SAS=0.0293;AF=0.0814;AF_popmax=0.1211;AF_male=0.0801;AF_female=0.0830;AF_raw=0.0816;AF_afr=0.0186;AF_sas=.;AF_amr=0.0637;AF_eas=0.0013;AF_nfe=0.1211;AF_fin=0.0953;AF_asj=0.1207;AF_oth=0.0956;non_topmed_AF_popmax=0.1251;non_neuro_AF_popmax=0.1219;non_cancer_AF_popmax=.;controls_AF_popmax=0.1326;Kaviar_AF=0.0808916;Kaviar_AC=12506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.736381;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275541 rs201599166 G A 100 PASS AC=57;AF=0.26258;AN=214;NS=2504;DP=15779;EAS_AF=0.25;AMR_AF=0.2133;AFR_AF=0.2912;EUR_AF=0.2097;SAS_AF=0.3262;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G5767A:p.E1923K;1000g2015aug_all=0.26258;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201599166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_rankscore=0.460;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.214;Polyphen2_HVAR_rankscore=0.422;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_converted_rankscore=0.229;LRT_pred=N;MutationTaster_score=0.546;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.385;MutationAssessor_score_rankscore=0.346;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.98;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.503;VEST3_rankscore=0.548;MetaSVM_score=-0.610;MetaSVM_rankscore=0.644;MetaSVM_pred=T;MetaLR_score=0.273;MetaLR_rankscore=0.645;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.166;REVEL_rankscore=0.431;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.891;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.999;DANN_rankscore=0.956;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_rankscore=0.390;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.308;Eigen-PC-raw=0.345;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.535;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.259;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=13.581;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0021;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0085057;Kaviar_AC=1315;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921132;ALLELE_END GT 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 +4 114275942 rs3796928 C G 100 PASS AC=5;AF=0.11881;AN=214;NS=2504;DP=19930;EAS_AF=0.0466;AMR_AF=0.0533;AFR_AF=0.3563;EUR_AF=0.0249;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6168G:p.L2056L;1000g2015aug_all=0.11881;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3796928;CLNALLELEID=251313;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0244;ExAC_nontcga_ALL=0.0491;ExAC_nontcga_AFR=0.3132;ExAC_nontcga_AMR=0.0242;ExAC_nontcga_EAS=0.0507;ExAC_nontcga_FIN=0.0098;ExAC_nontcga_NFE=0.0233;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0243;AF=0.1046;AF_popmax=0.3153;AF_male=0.1074;AF_female=0.1012;AF_raw=0.1050;AF_afr=0.3153;AF_sas=.;AF_amr=0.0389;AF_eas=0.0538;AF_nfe=0.0209;AF_fin=0.0144;AF_asj=0.0310;AF_oth=0.0404;non_topmed_AF_popmax=0.3154;non_neuro_AF_popmax=0.3162;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.0476902;Kaviar_AC=7373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647808;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275950 rs200765866 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6176T:p.T2059M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200765866;CLNALLELEID=189235;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.832;Polyphen2_HDIV_rankscore=0.554;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.226;Polyphen2_HVAR_rankscore=0.459;Polyphen2_HVAR_pred=B;LRT_score=0.291;LRT_converted_rankscore=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.676;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_converted_rankscore=0.307;PROVEAN_pred=N;VEST3_score=0.112;VEST3_rankscore=0.121;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.228;MetaLR_rankscore=0.593;MetaLR_pred=T;M-CAP_score=0.058;M-CAP_rankscore=0.674;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.613;CADD_raw_rankscore=0.255;CADD_phred=13.92;DANN_score=0.993;DANN_rankscore=0.577;fathmm-MKL_coding_score=0.252;fathmm-MKL_coding_rankscore=0.224;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.532;Eigen-PC-raw=-0.652;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=0.880;phyloP100way_vertebrate_rankscore=0.276;phyloP20way_mammalian=0.015;phyloP20way_mammalian_rankscore=0.141;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=6.015;SiPhy_29way_logOdds_rankscore=0.187;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0008;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0010;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006533;Kaviar_AC=101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647808;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275980 rs149645600 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19097;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G6206A:p.R2069H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149645600;CLNALLELEID=178534;CLNDN=Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.482;Polyphen2_HVAR_rankscore=0.485;Polyphen2_HVAR_pred=P;LRT_score=0.516;LRT_converted_rankscore=0.118;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_converted_rankscore=0.112;PROVEAN_pred=N;VEST3_score=0.116;VEST3_rankscore=0.168;MetaSVM_score=-0.812;MetaSVM_rankscore=0.544;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_rankscore=0.637;MetaLR_pred=T;M-CAP_score=0.107;M-CAP_rankscore=0.784;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.507;CADD_raw_rankscore=0.479;CADD_phred=23.1;DANN_score=0.975;DANN_rankscore=0.338;fathmm-MKL_coding_score=0.332;fathmm-MKL_coding_rankscore=0.245;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.005;Eigen-PC-raw=-0.100;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.56;GERP++_RS_rankscore=0.397;phyloP100way_vertebrate=4.377;phyloP100way_vertebrate_rankscore=0.591;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.984;phastCons100way_vertebrate_rankscore=0.356;phastCons20way_mammalian=0.087;phastCons20way_mammalian_rankscore=0.184;SiPhy_29way_logOdds=4.717;SiPhy_29way_logOdds_rankscore=0.122;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0009314;Kaviar_AC=144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.572303;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276422 rs140926982 C G 100 PASS AC=3;AF=0.00139776;AN=214;NS=2504;DP=18893;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6648G:p.G2216G;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140926982;CLNALLELEID=239317;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0019;AF_popmax=0.0047;AF_male=0.0019;AF_female=0.0019;AF_raw=0.0019;AF_afr=0.0007;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0023221;Kaviar_AC=359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0002174|hsa-miR-484|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.886637;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +4 114276880 rs28377576 T C 100 PASS AC=24;AF=0.0920527;AN=214;NS=2504;DP=19744;EAS_AF=0.001;AMR_AF=0.0821;AFR_AF=0.1952;EUR_AF=0.1252;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T7106C:p.V2369A;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28377576;CLNALLELEID=44355;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.57;SIFT_converted_rankscore=0.066;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.406;LRT_converted_rankscore=0.130;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.61;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-0.01;PROVEAN_converted_rankscore=0.072;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-1.047;MetaSVM_rankscore=0.151;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.250;CADD_raw_rankscore=0.005;CADD_phred=0.001;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.072;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.359;Eigen-PC-raw=-1.284;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.026;GERP++_RS_rankscore=0.134;phyloP100way_vertebrate=0.071;phyloP100way_vertebrate_rankscore=0.143;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.113;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=1.293;SiPhy_29way_logOdds_rankscore=0.019;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1163;ExAC_nontcga_ALL=0.0959;ExAC_nontcga_AFR=0.1838;ExAC_nontcga_AMR=0.0566;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1092;ExAC_nontcga_NFE=0.1196;ExAC_nontcga_OTH=0.1153;ExAC_nontcga_SAS=0.0351;AF=0.1265;AF_popmax=0.1716;AF_male=0.1281;AF_female=0.1246;AF_raw=0.1267;AF_afr=0.1716;AF_sas=.;AF_amr=0.0686;AF_eas=0.0019;AF_nfe=0.1245;AF_fin=0.0988;AF_asj=0.1345;AF_oth=0.1050;non_topmed_AF_popmax=0.1720;non_neuro_AF_popmax=0.1722;non_cancer_AF_popmax=.;controls_AF_popmax=0.1771;Kaviar_AF=0.0970169;Kaviar_AC=14999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.181926;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276884 rs3733615 A G 100 PASS AC=38;AF=0.284944;AN=214;NS=2504;DP=19817;EAS_AF=0.1151;AMR_AF=0.2392;AFR_AF=0.6339;EUR_AF=0.17;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7110G:p.Q2370Q;1000g2015aug_all=0.284944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733615;CLNALLELEID=251314;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1620;ExAC_nontcga_ALL=0.1900;ExAC_nontcga_AFR=0.5691;ExAC_nontcga_AMR=0.1739;ExAC_nontcga_EAS=0.1222;ExAC_nontcga_FIN=0.1283;ExAC_nontcga_NFE=0.1604;ExAC_nontcga_OTH=0.1888;ExAC_nontcga_SAS=0.1467;AF=0.2665;AF_popmax=0.5596;AF_male=0.2725;AF_female=0.2590;AF_raw=0.2670;AF_afr=0.5596;AF_sas=.;AF_amr=0.1757;AF_eas=0.1354;AF_nfe=0.1611;AF_fin=0.1203;AF_asj=0.1793;AF_oth=0.1722;non_topmed_AF_popmax=0.5605;non_neuro_AF_popmax=0.5587;non_cancer_AF_popmax=.;controls_AF_popmax=0.5632;Kaviar_AF=0.185787;Kaviar_AC=28723;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG0677412|N/A|FOXH1|JASPAR,OREG1857110|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.472388;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276957 rs201693280 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7183C:p.T2395P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201693280;CLNALLELEID=453664;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.543;Polyphen2_HVAR_rankscore=0.535;Polyphen2_HVAR_pred=P;LRT_score=0.127;LRT_converted_rankscore=0.188;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.698;FATHMM_pred=T;PROVEAN_score=-1.97;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.285;VEST3_rankscore=0.344;MetaSVM_score=-0.737;MetaSVM_rankscore=0.586;MetaSVM_pred=T;MetaLR_score=0.284;MetaLR_rankscore=0.656;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.607;M-CAP_pred=D;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.715;CADD_raw_rankscore=0.162;CADD_phred=8.924;DANN_score=0.887;DANN_rankscore=0.176;fathmm-MKL_coding_score=0.293;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.705;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-1.21;GERP++_RS_rankscore=0.090;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.139;phyloP20way_mammalian_rankscore=0.223;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=7.675;SiPhy_29way_logOdds_rankscore=0.275;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000423|hsa-miR-125b-5p|Experimental,MIMAT0000443|hsa-miR-125a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1857110|N/A|RUNX1|PAZAR,OREG0432123|N/A|BATF::JUN|JASPAR,OREG1217977|N/A|SMARCA4|PAZAR,OREG1541715|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.223977;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276986 rs181064820 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19388;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7212T:p.R2404S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181064820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.214;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=-0.47;FATHMM_converted_rankscore=0.703;FATHMM_pred=T;PROVEAN_score=-1.15;PROVEAN_converted_rankscore=0.295;PROVEAN_pred=N;VEST3_score=0.804;VEST3_rankscore=0.793;MetaSVM_score=-0.423;MetaSVM_rankscore=0.713;MetaSVM_pred=T;MetaLR_score=0.413;MetaLR_rankscore=0.761;MetaLR_pred=T;M-CAP_score=0.108;M-CAP_rankscore=0.785;M-CAP_pred=D;REVEL_score=0.415;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.593;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.994;DANN_rankscore=0.617;fathmm-MKL_coding_score=0.826;fathmm-MKL_coding_rankscore=0.415;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.087;Eigen-PC-raw=0.054;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.545;GERP++_RS_rankscore=0.163;phyloP100way_vertebrate=1.208;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=8.591;SiPhy_29way_logOdds_rankscore=0.327;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.428e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG1541715|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.745621;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278277 rs3733617 C T 100 PASS AC=14;AF=0.187899;AN=214;NS=2504;DP=21717;EAS_AF=0.1141;AMR_AF=0.1571;AFR_AF=0.4206;EUR_AF=0.0447;SAS_AF=0.1186;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C8503T:p.P2835S;1000g2015aug_all=0.187899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733617;CLNALLELEID=189247;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.559;SIFT_converted_rankscore=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.371;LRT_converted_rankscore=0.135;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_converted_rankscore=0.132;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.020;MetaSVM_score=-0.942;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.373;CADD_raw_rankscore=0.130;CADD_phred=6.374;DANN_score=0.883;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.104;fathmm-MKL_coding_rankscore=0.157;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.893;Eigen-PC-raw=-0.867;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.431;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.54;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=-0.391;phyloP100way_vertebrate_rankscore=0.073;phyloP20way_mammalian=-0.420;phyloP20way_mammalian_rankscore=0.060;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.192;SiPhy_29way_logOdds_rankscore=0.098;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0457;ExAC_nontcga_ALL=0.0919;ExAC_nontcga_AFR=0.3606;ExAC_nontcga_AMR=0.1165;ExAC_nontcga_EAS=0.1221;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0409;ExAC_nontcga_OTH=0.0720;ExAC_nontcga_SAS=0.1112;AF=0.1340;AF_popmax=0.3658;AF_male=0.1378;AF_female=0.1292;AF_raw=0.1342;AF_afr=0.3658;AF_sas=.;AF_amr=0.1073;AF_eas=0.1324;AF_nfe=0.0371;AF_fin=0.0216;AF_asj=0.0448;AF_oth=0.0634;non_topmed_AF_popmax=0.3656;non_neuro_AF_popmax=0.3677;non_cancer_AF_popmax=.;controls_AF_popmax=0.3666;Kaviar_AF=0.0872628;Kaviar_AC=13491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.526234;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278684 rs201571287 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22325;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C8910T:p.D2970D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201571287;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004926|hsa-miR-708-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.059120;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278935 rs139007578 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20844;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9161T:p.A3054V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139007578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.209;SIFT_converted_rankscore=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.7;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.887;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.515;MutationAssessor_score_rankscore=0.735;MutationAssessor_pred=M;FATHMM_score=-0.15;FATHMM_converted_rankscore=0.956;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_converted_rankscore=0.240;PROVEAN_pred=N;VEST3_score=0.504;VEST3_rankscore=0.651;MetaSVM_score=0.544;MetaSVM_rankscore=0.912;MetaSVM_pred=D;MetaLR_score=0.864;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.152;M-CAP_rankscore=0.834;M-CAP_pred=D;REVEL_score=0.304;REVEL_rankscore=0.629;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.67;DANN_score=0.998;DANN_rankscore=0.863;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.349;Eigen-PC-raw=0.409;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=4.074;phyloP100way_vertebrate_rankscore=0.571;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.972;phastCons20way_mammalian_rankscore=0.466;SiPhy_29way_logOdds=20.014;SiPhy_29way_logOdds_rankscore=0.975;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.859512;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279422 rs10013743 A G 100 PASS AC=26;AF=0.0920527;AN=214;NS=2504;DP=19702;EAS_AF=0.001;AMR_AF=0.0821;AFR_AF=0.1936;EUR_AF=0.1272;SAS_AF=0.0194;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A9648G:p.E3216E;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10013743;CLNALLELEID=251315;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1158;ExAC_nontcga_ALL=0.0961;ExAC_nontcga_AFR=0.1837;ExAC_nontcga_AMR=0.0569;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1090;ExAC_nontcga_NFE=0.1199;ExAC_nontcga_OTH=0.1153;ExAC_nontcga_SAS=0.0351;AF=0.1264;AF_popmax=0.1716;AF_male=0.1281;AF_female=0.1242;AF_raw=0.1266;AF_afr=0.1716;AF_sas=.;AF_amr=0.0684;AF_eas=0.0019;AF_nfe=0.1240;AF_fin=0.0987;AF_asj=0.1345;AF_oth=0.1066;non_topmed_AF_popmax=0.1721;non_neuro_AF_popmax=0.1707;non_cancer_AF_popmax=.;controls_AF_popmax=0.1759;Kaviar_AF=0.0981941;Kaviar_AC=15181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.272082;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279628 rs36210417 T C 100 PASS AC=4;AF=0.00399361;AN=214;NS=2504;DP=19929;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T9854C:p.I3285T;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36210417;CLNALLELEID=188392;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.922;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.975;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_converted_rankscore=0.527;PROVEAN_pred=N;VEST3_score=0.719;VEST3_rankscore=0.930;MetaSVM_score=0.882;MetaSVM_rankscore=0.954;MetaSVM_pred=D;MetaLR_score=0.900;MetaLR_rankscore=0.967;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.541;REVEL_rankscore=0.811;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.950;CADD_raw_rankscore=0.666;CADD_phred=25.0;DANN_score=0.998;DANN_rankscore=0.868;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.678;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.698;Eigen-PC-raw=0.683;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=4.699;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.812;phastCons20way_mammalian_rankscore=0.340;SiPhy_29way_logOdds=16.170;SiPhy_29way_logOdds_rankscore=0.815;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0047;AF=0.0079;AF_popmax=0.0126;AF_male=0.0069;AF_female=0.0092;AF_raw=0.0079;AF_afr=0.0013;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0055;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0132;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0080917;Kaviar_AC=1251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.821681;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279674 rs34270799 C A 100 PASS AC=8;AF=0.00998403;AN=214;NS=2504;DP=20137;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9900A:p.S3300R;1000g2015aug_all=0.00998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34270799;CLNALLELEID=189251;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_rankscore=0.610;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.445;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.963;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.452;PROVEAN_pred=N;VEST3_score=0.283;VEST3_rankscore=0.342;MetaSVM_score=0.401;MetaSVM_rankscore=0.891;MetaSVM_pred=D;MetaLR_score=0.744;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.371;CADD_raw_rankscore=0.346;CADD_phred=18.63;DANN_score=0.994;DANN_rankscore=0.634;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_rankscore=0.418;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.020;Eigen-PC-raw=0.017;GenoCanyon_score=0.957;GenoCanyon_score_rankscore=0.282;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.09;GERP++_RS_rankscore=0.469;phyloP100way_vertebrate=2.136;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=9.521;SiPhy_29way_logOdds_rankscore=0.381;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0317;ExAC_nontcga_ALL=0.0179;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0111;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0081;AF=0.0211;AF_popmax=0.0296;AF_male=0.0206;AF_female=0.0218;AF_raw=0.0212;AF_afr=0.0057;AF_sas=.;AF_amr=0.0189;AF_eas=0.0006;AF_nfe=0.0296;AF_fin=0.0322;AF_asj=0.0103;AF_oth=0.0230;non_topmed_AF_popmax=0.0291;non_neuro_AF_popmax=0.0290;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.0193529;Kaviar_AC=2992;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.641676;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114280145 rs142908806 G A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=20138;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G10371A:p.T3457T;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142908806;CLNALLELEID=239329;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0017;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0014;AF_raw=0.0017;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0026972;Kaviar_AC=417;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.683714;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114280169 rs147423696 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20692;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G10395A:p.E3465E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147423696;CLNALLELEID=221432;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.953e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0020;AF_popmax=0.0034;AF_male=0.0020;AF_female=0.0021;AF_raw=0.0020;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0034;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0030;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0022315;Kaviar_AC=345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.818065;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114284645 rs35728190 C T 100 PASS AC=24;AF=0.0756789;AN=214;NS=2504;DP=21049;EAS_AF=0.001;AMR_AF=0.0749;AFR_AF=0.1377;EUR_AF=0.1243;SAS_AF=0.0194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35728190;CLNALLELEID=140097;CLNDN=Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1156;ExAC_nontcga_ALL=0.0898;ExAC_nontcga_AFR=0.1192;ExAC_nontcga_AMR=0.0552;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1083;ExAC_nontcga_NFE=0.1191;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.0345;AF=0.1093;AF_popmax=0.1240;AF_male=0.1098;AF_female=0.1087;AF_raw=0.1094;AF_afr=0.1117;AF_sas=.;AF_amr=0.0649;AF_eas=0.0019;AF_nfe=0.1240;AF_fin=0.0975;AF_asj=0.1345;AF_oth=0.1013;non_topmed_AF_popmax=0.1274;non_neuro_AF_popmax=0.1249;non_cancer_AF_popmax=.;controls_AF_popmax=0.1348;Kaviar_AF=0.0913895;Kaviar_AC=14129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114286207 rs66785829 T A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18393;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon40:c.T4646A:p.V1549D,ANK2:NM_001148:exon41:c.T10901A:p.V3634D,ANK2:NM_001127493:exon42:c.T4619A:p.V1540D;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66785829;CLNALLELEID=78495;CLNDN=Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.365;SIFT_converted_rankscore=0.395;SIFT_pred=T;Polyphen2_HDIV_score=0.07;Polyphen2_HDIV_rankscore=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.211;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=0.369;LRT_converted_rankscore=0.135;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.464;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_score_rankscore=0.304;MutationAssessor_pred=L;FATHMM_score=-2.11;FATHMM_converted_rankscore=0.862;FATHMM_pred=D;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.658;PROVEAN_pred=N;VEST3_score=0.618;VEST3_rankscore=0.788;MetaSVM_score=-0.501;MetaSVM_rankscore=0.686;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_rankscore=0.734;MetaLR_pred=T;M-CAP_score=0.220;M-CAP_rankscore=0.878;M-CAP_pred=D;REVEL_score=0.615;REVEL_rankscore=0.852;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.753;CADD_raw_rankscore=0.637;CADD_phred=24.7;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.942;fathmm-MKL_coding_rankscore=0.602;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.135;Eigen-PC-raw=0.022;GenoCanyon_score=0.725;GenoCanyon_score_rankscore=0.230;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.28;GERP++_RS_rankscore=0.500;phyloP100way_vertebrate=3.500;phyloP100way_vertebrate_rankscore=0.528;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=1.572;SiPhy_29way_logOdds_rankscore=0.024;Interpro_domain=Ankyrin_repeat-containing_domain\x3bDeath_domain|Death-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0008;AF=0.0017;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0014;AF_raw=0.0017;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0026067;Kaviar_AC=403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.643542;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114286357 rs34201791 ATG A 100 PASS AC=198;AF=0.76877;AN=214;NS=2504;DP=17914;EAS_AF=0.8919;AMR_AF=0.8444;AFR_AF=0.4622;EUR_AF=0.8897;SAS_AF=0.8783;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.76877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367606815;CLNALLELEID=500427;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5128;ExAC_nontcga_AFR=0.3615;ExAC_nontcga_AMR=0.5301;ExAC_nontcga_EAS=0.5470;ExAC_nontcga_FIN=0.5569;ExAC_nontcga_NFE=0.5255;ExAC_nontcga_OTH=0.5118;ExAC_nontcga_SAS=0.5054;AF=0.6557;AF_popmax=0.8410;AF_male=0.6510;AF_female=0.6616;AF_raw=0.6476;AF_afr=0.3734;AF_sas=.;AF_amr=0.7111;AF_eas=0.8410;AF_nfe=0.7821;AF_fin=0.7049;AF_asj=0.7941;AF_oth=0.7321;non_topmed_AF_popmax=0.8391;non_neuro_AF_popmax=0.8410;non_cancer_AF_popmax=.;controls_AF_popmax=0.8341;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.447315;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +4 114289049 rs201999499 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21331;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201999499;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.594e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.87e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.691871;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114289062 rs114788911 G A 100 PASS AC=4;AF=0.0714856;AN=214;NS=2504;DP=21462;EAS_AF=0.1181;AMR_AF=0.0663;AFR_AF=0.0023;EUR_AF=0.0249;SAS_AF=0.1687;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0714856;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114788911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0224;AF_popmax=0.1091;AF_male=0.0236;AF_female=0.0208;AF_raw=0.0224;AF_afr=0.0057;AF_sas=.;AF_amr=0.0768;AF_eas=0.1091;AF_nfe=0.0205;AF_fin=0.0193;AF_asj=0.0138;AF_oth=0.0276;non_topmed_AF_popmax=0.1072;non_neuro_AF_popmax=0.1091;non_cancer_AF_popmax=.;controls_AF_popmax=0.1061;Kaviar_AF=0.0079559;Kaviar_AC=1230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.000845;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114294308 rs2293324 T C 100 PASS AC=38;AF=0.313299;AN=214;NS=2504;DP=21527;EAS_AF=0.1359;AMR_AF=0.2363;AFR_AF=0.7277;EUR_AF=0.168;SAS_AF=0.1401;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon43:c.T5418C:p.H1806H,ANK2:NM_001148:exon44:c.T11673C:p.H3891H,ANK2:NM_001127493:exon45:c.T5391C:p.H1797H;1000g2015aug_all=0.313299;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2293324;CLNALLELEID=140100;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1601;ExAC_nontcga_ALL=0.1971;ExAC_nontcga_AFR=0.6513;ExAC_nontcga_AMR=0.1793;ExAC_nontcga_EAS=0.1380;ExAC_nontcga_FIN=0.1240;ExAC_nontcga_NFE=0.1580;ExAC_nontcga_OTH=0.1873;ExAC_nontcga_SAS=0.1462;AF=0.2901;AF_popmax=0.6423;AF_male=0.2978;AF_female=0.2805;AF_raw=0.2904;AF_afr=0.6423;AF_sas=.;AF_amr=0.1840;AF_eas=0.1491;AF_nfe=0.1614;AF_fin=0.1131;AF_asj=0.1690;AF_oth=0.1801;non_topmed_AF_popmax=0.6429;non_neuro_AF_popmax=0.6405;non_cancer_AF_popmax=.;controls_AF_popmax=0.6381;Kaviar_AF=0.194545;Kaviar_AC=30077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.769104;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114302634 rs35446871 C T 100 PASS AC=6;AF=0.0177716;AN=214;NS=2504;DP=19143;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0234;EUR_AF=0.0308;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=ANK2;GeneDetail.refGene=NM_001127493:c.*7C>T\x3bNM_020977:c.*7C>T\x3bNM_001148:c.*7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35446871;CLNALLELEID=140103;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0347;ExAC_nontcga_ALL=0.0286;ExAC_nontcga_AFR=0.0260;ExAC_nontcga_AMR=0.0233;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0324;ExAC_nontcga_NFE=0.0407;ExAC_nontcga_OTH=0.0235;ExAC_nontcga_SAS=0.0059;AF=0.0274;AF_popmax=0.0281;AF_male=0.0269;AF_female=0.0279;AF_raw=0.0274;AF_afr=0.0281;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0281;AF_fin=0.0380;AF_asj=0.0310;AF_oth=0.0239;non_topmed_AF_popmax=0.0283;non_neuro_AF_popmax=0.0316;non_cancer_AF_popmax=.;controls_AF_popmax=0.0311;Kaviar_AF=0.0294045;Kaviar_AC=4546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086182|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732055;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072006 rs200211984 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16378;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200211984;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0007;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0009;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000912;Kaviar_AC=141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072187 rs17851524 A G 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=17712;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon3:c.A237G:p.A79A;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17851524;CLNALLELEID=40448;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0058;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0035;AF=0.0084;AF_popmax=0.0125;AF_male=0.0085;AF_female=0.0082;AF_raw=0.0084;AF_afr=0.0030;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0125;AF_fin=0.0049;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0098446;Kaviar_AC=1522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.332482;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072233 rs6828875 G C 100 PASS AC=145;AF=0.54353;AN=214;NS=2504;DP=17963;EAS_AF=0.6141;AMR_AF=0.6657;AFR_AF=0.2458;EUR_AF=0.7008;SAS_AF=0.6247;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.54353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6828875;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7245;ExAC_nontcga_ALL=0.6444;ExAC_nontcga_AFR=0.3106;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.5878;ExAC_nontcga_FIN=0.7337;ExAC_nontcga_NFE=0.6986;ExAC_nontcga_OTH=0.6402;ExAC_nontcga_SAS=0.6008;AF=0.5925;AF_popmax=0.7029;AF_male=0.5909;AF_female=0.5945;AF_raw=0.5928;AF_afr=0.3181;AF_sas=.;AF_amr=0.6844;AF_eas=0.6029;AF_nfe=0.7029;AF_fin=0.7356;AF_asj=0.6414;AF_oth=0.6701;non_topmed_AF_popmax=0.6957;non_neuro_AF_popmax=0.7012;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.601726;Kaviar_AC=93028;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325671::-0.326865;Heart_Left_Ventricle=Heart_Left_Ventricle::0.32342::-0.327694;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120072238 rs6828349 A G 100 PASS AC=145;AF=0.544129;AN=214;NS=2504;DP=17845;EAS_AF=0.6141;AMR_AF=0.6657;AFR_AF=0.2481;EUR_AF=0.7008;SAS_AF=0.6247;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.544129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6828349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6447;ExAC_nontcga_AFR=0.3107;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.5888;ExAC_nontcga_FIN=0.7336;ExAC_nontcga_NFE=0.6987;ExAC_nontcga_OTH=0.6420;ExAC_nontcga_SAS=0.6010;AF=0.5923;AF_popmax=0.7026;AF_male=0.5907;AF_female=0.5943;AF_raw=0.5931;AF_afr=0.3184;AF_sas=.;AF_amr=0.6836;AF_eas=0.6023;AF_nfe=0.7026;AF_fin=0.7359;AF_asj=0.6414;AF_oth=0.6698;non_topmed_AF_popmax=0.6953;non_neuro_AF_popmax=0.7009;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.6371;Kaviar_AC=98497;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.326336::-0.33103;Heart_Left_Ventricle=Heart_Left_Ventricle::0.324074::-0.328466;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120079159 rs11721566 A G 100 PASS AC=145;AF=0.546326;AN=214;NS=2504;DP=16687;EAS_AF=0.628;AMR_AF=0.6657;AFR_AF=0.2458;EUR_AF=0.7008;SAS_AF=0.6247;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.546326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11721566;CLNALLELEID=40447;CLNDN=Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided;CLNDISDB=MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7257;ExAC_nontcga_ALL=0.6460;ExAC_nontcga_AFR=0.3099;ExAC_nontcga_AMR=0.6997;ExAC_nontcga_EAS=0.6125;ExAC_nontcga_FIN=0.7350;ExAC_nontcga_NFE=0.6992;ExAC_nontcga_OTH=0.6402;ExAC_nontcga_SAS=0.5994;AF=0.5952;AF_popmax=0.7052;AF_male=0.5934;AF_female=0.5975;AF_raw=0.5947;AF_afr=0.3203;AF_sas=.;AF_amr=0.6851;AF_eas=0.6168;AF_nfe=0.7052;AF_fin=0.7360;AF_asj=0.6389;AF_oth=0.6728;non_topmed_AF_popmax=0.6983;non_neuro_AF_popmax=0.7035;non_cancer_AF_popmax=.;controls_AF_popmax=0.7114;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325095::-0.334906;Heart_Left_Ventricle=Heart_Left_Ventricle::0.323529::-0.329626;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.369454;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120085448 rs7687613 A G 100 PASS AC=7;AF=0.0838658;AN=214;NS=2504;DP=16259;EAS_AF=0.0387;AMR_AF=0.0389;AFR_AF=0.1997;EUR_AF=0.0219;SAS_AF=0.0695;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon5:c.A459G:p.E153E;1000g2015aug_all=0.0838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7687613;CLNALLELEID=40446;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0248;ExAC_nontcga_ALL=0.0448;ExAC_nontcga_AFR=0.1792;ExAC_nontcga_AMR=0.0360;ExAC_nontcga_EAS=0.0337;ExAC_nontcga_FIN=0.0212;ExAC_nontcga_NFE=0.0245;ExAC_nontcga_OTH=0.0476;ExAC_nontcga_SAS=0.0591;AF=0.0671;AF_popmax=0.1733;AF_male=0.0701;AF_female=0.0634;AF_raw=0.0672;AF_afr=0.1733;AF_sas=.;AF_amr=0.0307;AF_eas=0.0385;AF_nfe=0.0253;AF_fin=0.0233;AF_asj=0.0414;AF_oth=0.0267;non_topmed_AF_popmax=0.1729;non_neuro_AF_popmax=0.1763;non_cancer_AF_popmax=.;controls_AF_popmax=0.1816;Kaviar_AF=0.0428714;Kaviar_AC=6628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.754084;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +4 120107098 rs112369914 G GT 100 PASS AC=37;AF=0.240216;AN=214;NS=2504;DP=17173;EAS_AF=0.1339;AMR_AF=0.1988;AFR_AF=0.3888;EUR_AF=0.1978;SAS_AF=0.2219;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112369914;CLNALLELEID=54951;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1878;ExAC_nontcga_ALL=0.2896;ExAC_nontcga_AFR=0.4814;ExAC_nontcga_AMR=0.2974;ExAC_nontcga_EAS=0.2127;ExAC_nontcga_FIN=0.2464;ExAC_nontcga_NFE=0.2672;ExAC_nontcga_OTH=0.2582;ExAC_nontcga_SAS=0.3018;AF=0.2820;AF_popmax=0.4718;AF_male=0.2815;AF_female=0.2825;AF_raw=0.2754;AF_afr=0.4718;AF_sas=.;AF_amr=0.2493;AF_eas=0.1543;AF_nfe=0.2051;AF_fin=0.2183;AF_asj=0.2391;AF_oth=0.2393;non_topmed_AF_popmax=0.4708;non_neuro_AF_popmax=0.4799;non_cancer_AF_popmax=.;controls_AF_popmax=0.4708;Kaviar_AF=0.0057502;Kaviar_AC=889;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.515454;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 +4 186064502 rs3733652 G A 100 PASS AC=4;AF=0.0788738;AN=214;NS=2504;DP=8121;EAS_AF=0.0813;AMR_AF=0.0576;AFR_AF=0.1271;EUR_AF=0.0209;SAS_AF=0.0859;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SLC25A4;GeneDetail.refGene=NM_001151:c.-25G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0788738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733652;CLNALLELEID=142856;CLNDN=not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions;CLNDISDB=MedGen:CN169374|MedGen:CN239267;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0592;ExAC_nontcga_AFR=0.0978;ExAC_nontcga_AMR=0.0652;ExAC_nontcga_EAS=0.0868;ExAC_nontcga_FIN=0.0357;ExAC_nontcga_NFE=0.0185;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0726;AF=0.0485;AF_popmax=0.0990;AF_male=0.0500;AF_female=0.0468;AF_raw=0.0487;AF_afr=0.0990;AF_sas=.;AF_amr=0.0865;AF_eas=0.0918;AF_nfe=0.0142;AF_fin=0.0531;AF_asj=0.0138;AF_oth=0.0388;non_topmed_AF_popmax=0.0987;non_neuro_AF_popmax=0.1002;non_cancer_AF_popmax=.;controls_AF_popmax=0.1017;Kaviar_AF=0.0132857;Kaviar_AC=2054;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177010|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1514830|N/A|EGR1|PAZAR,OREG1274044|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.145465;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186066373 rs149101873 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186067934 rs201780209 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186423436 rs8315 G A 100 PASS AC=4;AF=0.00858626;AN=214;NS=2504;DP=18435;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.003;EUR_AF=0.0089;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_014476:c.*12C>T\x3bNM_001257962:c.*12C>T\x3bNM_001257963:c.*12C>T\x3bNM_001114107:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8315;CLNALLELEID=142379;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0129;ExAC_nontcga_ALL=0.0109;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0230;AF=0.0083;AF_popmax=0.0131;AF_male=0.0081;AF_female=0.0086;AF_raw=0.0083;AF_afr=0.0021;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0032;AF_asj=0.0345;AF_oth=0.0111;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0109442;Kaviar_AC=1692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186423637 rs4635850 G A 100 PASS AC=153;AF=0.659545;AN=214;NS=2504;DP=19430;EAS_AF=0.8125;AMR_AF=0.7896;AFR_AF=0.3132;EUR_AF=0.825;SAS_AF=0.7076;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V;1000g2015aug_all=0.659545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4635850;CLNALLELEID=142378;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.088;esp6500siv2_ea=0.8535;ExAC_nontcga_ALL=0.7803;ExAC_nontcga_AFR=0.3660;ExAC_nontcga_AMR=0.7554;ExAC_nontcga_EAS=0.8076;ExAC_nontcga_FIN=0.8770;ExAC_nontcga_NFE=0.8488;ExAC_nontcga_OTH=0.7882;ExAC_nontcga_SAS=0.7463;AF=0.7185;AF_popmax=0.8586;AF_male=0.7110;AF_female=0.7280;AF_raw=0.7182;AF_afr=0.3705;AF_sas=.;AF_amr=0.7736;AF_eas=0.8140;AF_nfe=0.8586;AF_fin=0.8808;AF_asj=0.7448;AF_oth=0.8097;non_topmed_AF_popmax=0.8597;non_neuro_AF_popmax=0.8590;non_cancer_AF_popmax=.;controls_AF_popmax=0.8734;Kaviar_AF=0.778496;Kaviar_AC=120357;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.078458;ALLELE_END GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186423655 rs12644280 G A 100 PASS AC=24;AF=0.139177;AN=214;NS=2504;DP=19059;EAS_AF=0.3085;AMR_AF=0.1527;AFR_AF=0.0182;EUR_AF=0.1581;SAS_AF=0.0992;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12644280;CLNALLELEID=142377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1602;ExAC_nontcga_ALL=0.1549;ExAC_nontcga_AFR=0.0364;ExAC_nontcga_AMR=0.1904;ExAC_nontcga_EAS=0.2981;ExAC_nontcga_FIN=0.1350;ExAC_nontcga_NFE=0.1599;ExAC_nontcga_OTH=0.1095;ExAC_nontcga_SAS=0.1206;AF=0.1333;AF_popmax=0.3117;AF_male=0.1321;AF_female=0.1348;AF_raw=0.1334;AF_afr=0.0380;AF_sas=.;AF_amr=0.1557;AF_eas=0.3117;AF_nfe=0.1655;AF_fin=0.1353;AF_asj=0.1379;AF_oth=0.1575;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3117;non_cancer_AF_popmax=.;controls_AF_popmax=0.3202;Kaviar_AF=0.156382;Kaviar_AC=24177;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 +4 186423677 rs10866276 G A 100 PASS AC=153;AF=0.659545;AN=214;NS=2504;DP=18980;EAS_AF=0.8125;AMR_AF=0.7896;AFR_AF=0.3132;EUR_AF=0.825;SAS_AF=0.7076;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.659545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10866276;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8542;ExAC_nontcga_ALL=0.7821;ExAC_nontcga_AFR=0.3687;ExAC_nontcga_AMR=0.7576;ExAC_nontcga_EAS=0.8087;ExAC_nontcga_FIN=0.8774;ExAC_nontcga_NFE=0.8497;ExAC_nontcga_OTH=0.7934;ExAC_nontcga_SAS=0.7467;AF=0.7191;AF_popmax=0.8588;AF_male=0.7112;AF_female=0.7290;AF_raw=0.7187;AF_afr=0.3704;AF_sas=.;AF_amr=0.7759;AF_eas=0.8185;AF_nfe=0.8588;AF_fin=0.8803;AF_asj=0.7448;AF_oth=0.8112;non_topmed_AF_popmax=0.8600;non_neuro_AF_popmax=0.8593;non_cancer_AF_popmax=.;controls_AF_popmax=0.8739;Kaviar_AF=0.76966;Kaviar_AC=118991;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186425571 rs56274515 A G 100 PASS AC=3;AF=0.0369409;AN=214;NS=2504;DP=22177;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.112;EUR_AF=0.008;SAS_AF=0.0225;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56274515;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0358;AF_popmax=0.1020;AF_male=0.0378;AF_female=0.0333;AF_raw=0.0359;AF_afr=0.1020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0165;non_topmed_AF_popmax=0.1022;non_neuro_AF_popmax=0.1069;non_cancer_AF_popmax=.;controls_AF_popmax=0.1103;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1725750|N/A|HNF4A|PAZAR,OREG1749494|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186425638 rs143812960 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19832;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon4:c.G395A:p.S132N,PDLIM3:NM_001114107:exon6:c.G752A:p.S251N,PDLIM3:NM_001257962:exon6:c.G632A:p.S211N,PDLIM3:NM_014476:exon7:c.G896A:p.S299N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143812960;CLNALLELEID=198164;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.664;SIFT_converted_rankscore=0.046;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.49;MutationAssessor_score_rankscore=0.026;MutationAssessor_pred=N;FATHMM_score=-2.25;FATHMM_converted_rankscore=0.873;FATHMM_pred=D;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.07;VEST3_rankscore=0.101;MetaSVM_score=-0.715;MetaSVM_rankscore=0.597;MetaSVM_pred=T;MetaLR_score=0.285;MetaLR_rankscore=0.657;MetaLR_pred=T;M-CAP_score=0.015;M-CAP_rankscore=0.349;M-CAP_pred=T;REVEL_score=0.276;REVEL_rankscore=0.597;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.167;CADD_raw_rankscore=0.322;CADD_phred=17.29;DANN_score=0.917;DANN_rankscore=0.204;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.548;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.448;Eigen-PC-raw=-0.198;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=1.002;phyloP100way_vertebrate_rankscore=0.292;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.082;SiPhy_29way_logOdds_rankscore=0.355;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bZinc_finger,_LIM-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.975e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.72e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1749494|N/A|HNF4A|PAZAR,OREG1842298|N/A|RB1|PAZAR,OREG1302906|N/A|CEBPA|PAZAR,OREG1725750|N/A|HNF4A|PAZAR,OREG1787830|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.515990;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427686 rs201775052 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17264;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C282T:p.D94D,PDLIM3:NM_001114107:exon5:c.C639T:p.D213D,PDLIM3:NM_001257962:exon5:c.C519T:p.D173D,PDLIM3:NM_014476:exon6:c.C783T:p.D261D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201775052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427735 rs62347360 G A 100 PASS AC=5;AF=0.00559105;AN=214;NS=2504;DP=16250;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C233T:p.T78I,PDLIM3:NM_001114107:exon5:c.C590T:p.T197I,PDLIM3:NM_001257962:exon5:c.C470T:p.T157I,PDLIM3:NM_014476:exon6:c.C734T:p.T245I;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62347360;CLNALLELEID=40499;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.227;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.048;LRT_converted_rankscore=0.233;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.272;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.435;PROVEAN_pred=N;VEST3_score=0.032;VEST3_rankscore=0.021;MetaSVM_score=-1.058;MetaSVM_rankscore=0.123;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.150;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.346;CADD_raw_rankscore=0.226;CADD_phred=12.51;DANN_score=0.974;DANN_rankscore=0.330;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.397;Eigen-PC-raw=-0.367;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=1.769;phyloP100way_vertebrate_rankscore=0.379;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=11.367;SiPhy_29way_logOdds_rankscore=0.487;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bDomain_of_unknown_function_DUF4749|Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0170;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0458;ExAC_nontcga_NFE=0.0246;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0039;AF=0.0216;AF_popmax=0.0279;AF_male=0.0200;AF_female=0.0236;AF_raw=0.0216;AF_afr=0.0047;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0279;AF_fin=0.0509;AF_asj=0;AF_oth=0.0230;non_topmed_AF_popmax=0.0273;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0267;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.985870;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427841 rs2306705 T C 100 PASS AC=154;AF=0.764177;AN=214;NS=2504;DP=13794;EAS_AF=0.8085;AMR_AF=0.83;AFR_AF=0.6785;EUR_AF=0.826;SAS_AF=0.7239;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.764177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306705;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8549;ExAC_nontcga_ALL=0.8118;ExAC_nontcga_AFR=0.6964;ExAC_nontcga_AMR=0.7688;ExAC_nontcga_EAS=0.7964;ExAC_nontcga_FIN=0.8902;ExAC_nontcga_NFE=0.8512;ExAC_nontcga_OTH=0.8104;ExAC_nontcga_SAS=0.7504;AF=0.8110;AF_popmax=0.8605;AF_male=0.8066;AF_female=0.8164;AF_raw=0.8105;AF_afr=0.6915;AF_sas=.;AF_amr=0.7960;AF_eas=0.8039;AF_nfe=0.8605;AF_fin=0.8958;AF_asj=0.7414;AF_oth=0.8330;non_topmed_AF_popmax=0.8621;non_neuro_AF_popmax=0.8606;non_cancer_AF_popmax=.;controls_AF_popmax=0.8748;Kaviar_AF=0.787085;Kaviar_AC=121685;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186427871 rs2306706 A G 100 PASS AC=57;AF=0.197883;AN=214;NS=2504;DP=15756;EAS_AF=0.1964;AMR_AF=0.1527;AFR_AF=0.2088;EUR_AF=0.163;SAS_AF=0.2526;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.197883;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1514;AF_popmax=0.2058;AF_male=0.1554;AF_female=0.1463;AF_raw=0.1517;AF_afr=0.2058;AF_sas=.;AF_amr=0.1851;AF_eas=0.1996;AF_nfe=0.1237;AF_fin=0.1013;AF_asj=0.2448;AF_oth=0.1479;non_topmed_AF_popmax=0.2056;non_neuro_AF_popmax=0.2121;non_cancer_AF_popmax=.;controls_AF_popmax=0.2016;Kaviar_AF=0.0281885;Kaviar_AC=4358;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 +4 186435435 rs138670107 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20343;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon2:c.G150A:p.P50P,PDLIM3:NM_001257962:exon4:c.G387A:p.P129P,PDLIM3:NM_014476:exon4:c.G387A:p.P129P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138670107;CLNALLELEID=142372;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0011;AF=0.0012;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1598303|N/A|FOXA1|PAZAR,OREG1656640|N/A|FOXA1|PAZAR,OREG1190569|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.389337;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186435563 rs535030756 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18429;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535030756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1656640|N/A|FOXA1|PAZAR,OREG1598303|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186444698 rs4862543 A C 100 PASS AC=160;AF=0.719249;AN=214;NS=2504;DP=18571;EAS_AF=0.8105;AMR_AF=0.804;AFR_AF=0.5;EUR_AF=0.8449;SAS_AF=0.7321;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4862543;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7778;AF_popmax=0.8747;AF_male=0.7714;AF_female=0.7859;AF_raw=0.7769;AF_afr=0.5380;AF_sas=.;AF_amr=0.7933;AF_eas=0.8040;AF_nfe=0.8747;AF_fin=0.9138;AF_asj=0.7586;AF_oth=0.8386;non_topmed_AF_popmax=0.8768;non_neuro_AF_popmax=0.8746;non_cancer_AF_popmax=.;controls_AF_popmax=0.8866;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186446257 rs112661328 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18788;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001114107:exon2:c.C162T:p.G54G,PDLIM3:NM_001257962:exon2:c.C162T:p.G54G,PDLIM3:NM_014476:exon2:c.C162T:p.G54G;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112661328;CLNALLELEID=142371;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0032;AF=0.0076;AF_popmax=0.0098;AF_male=0.0080;AF_female=0.0071;AF_raw=0.0076;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0118;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0078201;Kaviar_AC=1209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.508747;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186446365 rs200836809 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19637;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200836809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.129e-05;AF=0.0003;AF_popmax=0.0009;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186456617 rs4862545 A G 100 PASS AC=214;AF=0.948283;AN=214;NS=2504;DP=8523;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8116;EUR_AF=0.999;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_014476:c.-29T>C\x3bNM_001257962:c.-29T>C\x3bNM_001257963:c.-29T>C\x3bNM_001114107:c.-29T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.948283;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4862545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9993;ExAC_nontcga_ALL=0.9866;ExAC_nontcga_AFR=0.8387;ExAC_nontcga_AMR=0.9936;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9964;ExAC_nontcga_SAS=0.9997;AF=0.9537;AF_popmax=0.9998;AF_male=0.9513;AF_female=0.9566;AF_raw=0.9533;AF_afr=0.8355;AF_sas=.;AF_amr=0.9858;AF_eas=0.9994;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=0.9999;non_neuro_AF_popmax=0.9998;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0052781;Kaviar_AC=816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177061|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 218381 rs3214561 T TC 100 PASS AC=20;AF=0.247005;AN=214;NS=2504;DP=11367;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6218;EUR_AF=0.1113;SAS_AF=0.0787;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SDHA;GeneDetail.refGene=NM_001294332:c.-90_-89insC\x3bNM_004168:c.-90_-89insC\x3bNM_001330758:c.-90_-89insC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35805262;CLNALLELEID=299304;CLNDN=Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2230;AF_popmax=0.5245;AF_male=0.2260;AF_female=0.2192;AF_raw=0.2234;AF_afr=0.5245;AF_sas=.;AF_amr=0.1813;AF_eas=0.0483;AF_nfe=0.1123;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1327;non_topmed_AF_popmax=0.5248;non_neuro_AF_popmax=0.5247;non_cancer_AF_popmax=.;controls_AF_popmax=0.5295;Kaviar_AF=0.025972;Kaviar_AC=676;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177383|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1479573|N/A|E2F4|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR,OREG1849817|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.808005;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 218598 rs2303740 G A 100 PASS AC=100;AF=0.329872;AN=214;NS=2504;DP=7323;EAS_AF=0.2768;AMR_AF=0.3329;AFR_AF=0.09;EUR_AF=0.493;SAS_AF=0.5389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.329872;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3871;AF_popmax=0.4997;AF_male=0.3795;AF_female=0.3966;AF_raw=0.3868;AF_afr=0.1580;AF_sas=.;AF_amr=0.3663;AF_eas=0.2825;AF_nfe=0.4997;AF_fin=0.4835;AF_asj=0.4172;AF_oth=0.4778;non_topmed_AF_popmax=0.4987;non_neuro_AF_popmax=0.4990;non_cancer_AF_popmax=.;controls_AF_popmax=0.4890;Kaviar_AF=0.403489;Kaviar_AC=10502;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177383|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.862887;ALLELE_END GT 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 +5 223646 rs34635677 A T 100 PASS AC=8;AF=0.0185703;AN=214;NS=2504;DP=19506;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0511;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_001330758:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34635677;CLNALLELEID=226826;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.614;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_converted_rankscore=0.266;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.46;MutationAssessor_score_rankscore=0.130;MutationAssessor_pred=N;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=0.2;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.361;VEST3_rankscore=0.422;MetaSVM_score=-1.079;MetaSVM_rankscore=0.076;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_rankscore=0.170;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.589;DANN_score=0.864;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.598;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.596;Eigen-PC-raw=-0.511;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=2.737;phyloP100way_vertebrate_rankscore=0.468;phyloP20way_mammalian=0.233;phyloP20way_mammalian_rankscore=0.259;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.832;phastCons20way_mammalian_rankscore=0.347;SiPhy_29way_logOdds=8.397;SiPhy_29way_logOdds_rankscore=0.315;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0456;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0114;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0436;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0568;AF=0.0298;AF_popmax=0.0453;AF_male=0.0282;AF_female=0.0317;AF_raw=0.0298;AF_afr=0.0080;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0453;AF_fin=0.0273;AF_asj=0.0379;AF_oth=0.0386;non_topmed_AF_popmax=0.0436;non_neuro_AF_popmax=0.0461;non_cancer_AF_popmax=.;controls_AF_popmax=0.0397;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927148;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +5 224418 rs7732389 T G 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=19861;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7732389;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2244;AF_popmax=0.5282;AF_male=0.2280;AF_female=0.2199;AF_raw=0.2249;AF_afr=0.5282;AF_sas=.;AF_amr=0.1816;AF_eas=0.0477;AF_nfe=0.1130;AF_fin=0.0835;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5285;non_neuro_AF_popmax=0.5285;non_cancer_AF_popmax=.;controls_AF_popmax=0.5340;Kaviar_AF=0.0229816;Kaviar_AC=3553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178967::-0.177576;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224633 rs1139424 A G 100 PASS AC=20;AF=0.240016;AN=214;NS=2504;DP=17131;EAS_AF=0.0585;AMR_AF=0.2334;AFR_AF=0.5998;EUR_AF=0.1103;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon3:c.A309G:p.A103A,SDHA:NM_001330758:exon3:c.A309G:p.A103A,SDHA:NM_004168:exon3:c.A309G:p.A103A;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139424;CLNALLELEID=135727;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1294;ExAC_nontcga_ALL=0.1524;ExAC_nontcga_AFR=0.5295;ExAC_nontcga_AMR=0.1764;ExAC_nontcga_EAS=0.0596;ExAC_nontcga_FIN=0.0906;ExAC_nontcga_NFE=0.1258;ExAC_nontcga_OTH=0.1243;ExAC_nontcga_SAS=0.0893;AF=0.2245;AF_popmax=0.5289;AF_male=0.2277;AF_female=0.2205;AF_raw=0.2248;AF_afr=0.5289;AF_sas=.;AF_amr=0.1816;AF_eas=0.0489;AF_nfe=0.1125;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5291;non_neuro_AF_popmax=0.5305;non_cancer_AF_popmax=.;controls_AF_popmax=0.5363;Kaviar_AF=0.149092;Kaviar_AC=23050;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.433347;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224684 rs201953257 G A 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=15402;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0098;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201953257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0113;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0056;AF=0.0050;AF_popmax=0.0090;AF_male=0.0047;AF_female=0.0054;AF_raw=0.0050;AF_afr=0.0090;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0086;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224692 rs7705721 G T 100 PASS AC=20;AF=0.244209;AN=214;NS=2504;DP=15107;EAS_AF=0.0585;AMR_AF=0.2378;AFR_AF=0.6135;EUR_AF=0.1103;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.244209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7705721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2243;AF_popmax=0.5284;AF_male=0.2277;AF_female=0.2201;AF_raw=0.2248;AF_afr=0.5284;AF_sas=.;AF_amr=0.1816;AF_eas=0.0487;AF_nfe=0.1128;AF_fin=0.0832;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5287;non_neuro_AF_popmax=0.5293;non_cancer_AF_popmax=.;controls_AF_popmax=0.5354;Kaviar_AF=0.0289065;Kaviar_AC=4469;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225515 rs185555941 G T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=16113;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185555941;CLNALLELEID=358790;CLNDN=Paragangliomas_5|not_specified;CLNDISDB=MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0027;AF_popmax=0.0041;AF_male=0.0029;AF_female=0.0025;AF_raw=0.0027;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0018564;Kaviar_AC=287;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.769861;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225709 rs35464369 G A 100 PASS AC=1;AF=0.113019;AN=214;NS=2504;DP=17441;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4085;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.113019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35464369;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0305;ExAC_nontcga_AFR=0.3372;ExAC_nontcga_AMR=0.0192;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0190;ExAC_nontcga_SAS=0.0007;AF=0.0927;AF_popmax=0.3262;AF_male=0.0953;AF_female=0.0893;AF_raw=0.0929;AF_afr=0.3262;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3266;non_neuro_AF_popmax=0.3284;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0307564;Kaviar_AC=4755;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.985478;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225941 rs59452511 C T 100 PASS AC=40;AF=0.307907;AN=214;NS=2504;DP=21948;EAS_AF=0.0605;AMR_AF=0.3588;AFR_AF=0.6369;EUR_AF=0.2545;SAS_AF=0.137;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.307907;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59452511;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3353;AF_popmax=0.5593;AF_male=0.3317;AF_female=0.3398;AF_raw=0.3347;AF_afr=0.5593;AF_sas=.;AF_amr=0.2736;AF_eas=0.0489;AF_nfe=0.2578;AF_fin=0.2834;AF_asj=0.2793;AF_oth=0.2831;non_topmed_AF_popmax=0.5593;non_neuro_AF_popmax=0.5636;non_cancer_AF_popmax=.;controls_AF_popmax=0.5654;Kaviar_AF=0.0506656;Kaviar_AC=7833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.268382::-0.127049;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.806467;ALLELE_END GT 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +5 226160 rs6555055 A C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=18908;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon4:c.A475C:p.R159R,SDHA:NM_001330758:exon5:c.A619C:p.R207R,SDHA:NM_004168:exon5:c.A619C:p.R207R;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6555055;CLNALLELEID=135728;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.1359;ExAC_nontcga_ALL=0.1566;ExAC_nontcga_AFR=0.5415;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0606;ExAC_nontcga_FIN=0.0917;ExAC_nontcga_NFE=0.1286;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0902;AF=0.2243;AF_popmax=0.5286;AF_male=0.2276;AF_female=0.2202;AF_raw=0.2247;AF_afr=0.5286;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1126;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1335;non_topmed_AF_popmax=0.5290;non_neuro_AF_popmax=0.5300;non_cancer_AF_popmax=.;controls_AF_popmax=0.5360;Kaviar_AF=0.154228;Kaviar_AC=23844;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.261354;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 226222 rs6555056 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=21095;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6555056;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2246;AF_popmax=0.5290;AF_male=0.2279;AF_female=0.2204;AF_raw=0.2248;AF_afr=0.5290;AF_sas=.;AF_amr=0.1816;AF_eas=0.0490;AF_nfe=0.1128;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1335;non_topmed_AF_popmax=0.5294;non_neuro_AF_popmax=0.5302;non_cancer_AF_popmax=.;controls_AF_popmax=0.5359;Kaviar_AF=0.0307435;Kaviar_AC=4753;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 228278 rs570811758;rs3835068 CT C 100 PASS AC=20;AF=0.234625;AN=214;NS=2504;DP=20930;EAS_AF=0.0585;AMR_AF=0.2392;AFR_AF=0.5764;EUR_AF=0.1103;SAS_AF=0.0787;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.234625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835068;CLNALLELEID=251939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1308;ExAC_nontcga_ALL=0.1504;ExAC_nontcga_AFR=0.5091;ExAC_nontcga_AMR=0.1825;ExAC_nontcga_EAS=0.0595;ExAC_nontcga_FIN=0.0917;ExAC_nontcga_NFE=0.1274;ExAC_nontcga_OTH=0.1280;ExAC_nontcga_SAS=0.0899;AF=0.2235;AF_popmax=0.5253;AF_male=0.2268;AF_female=0.2194;AF_raw=0.2237;AF_afr=0.5253;AF_sas=.;AF_amr=0.1829;AF_eas=0.0478;AF_nfe=0.1119;AF_fin=0.0844;AF_asj=0.1560;AF_oth=0.1327;non_topmed_AF_popmax=0.5257;non_neuro_AF_popmax=0.5252;non_cancer_AF_popmax=.;controls_AF_popmax=0.5297;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.209094;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 228362 rs2115272 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=18495;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon5:c.T540C:p.N180N,SDHA:NM_001330758:exon6:c.T684C:p.N228N,SDHA:NM_004168:exon6:c.T684C:p.N228N;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2115272;CLNALLELEID=135729;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1360;ExAC_nontcga_ALL=0.1563;ExAC_nontcga_AFR=0.5401;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0610;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1282;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0901;AF=0.2246;AF_popmax=0.5283;AF_male=0.2281;AF_female=0.2202;AF_raw=0.2247;AF_afr=0.5283;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1130;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1328;non_topmed_AF_popmax=0.5286;non_neuro_AF_popmax=0.5296;non_cancer_AF_popmax=.;controls_AF_popmax=0.5347;Kaviar_AF=0.152249;Kaviar_AC=23538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.311559;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 230942 rs202163020 G C 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=16927;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202163020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.527022;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +5 230943 rs200374231 T C 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=16597;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200374231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.527022;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +5 230980 rs2288461 A G 100 PASS AC=167;AF=0.858427;AN=214;NS=2504;DP=17480;EAS_AF=0.628;AMR_AF=0.8689;AFR_AF=0.9879;EUR_AF=0.8688;SAS_AF=0.9029;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.858427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288461;CLNALLELEID=251940;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.8817;ExAC_nontcga_ALL=0.8826;ExAC_nontcga_AFR=0.9753;ExAC_nontcga_AMR=0.8946;ExAC_nontcga_EAS=0.6711;ExAC_nontcga_FIN=0.9190;ExAC_nontcga_NFE=0.8853;ExAC_nontcga_OTH=0.8746;ExAC_nontcga_SAS=0.9007;AF=0.9016;AF_popmax=0.9717;AF_male=0.8967;AF_female=0.9077;AF_raw=0.9014;AF_afr=0.9717;AF_sas=.;AF_amr=0.8853;AF_eas=0.6602;AF_nfe=0.8849;AF_fin=0.9203;AF_asj=0.7966;AF_oth=0.9033;non_topmed_AF_popmax=0.9719;non_neuro_AF_popmax=0.9692;non_cancer_AF_popmax=.;controls_AF_popmax=0.9669;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.112167::-0.318647;Heart_Left_Ventricle=Heart_Left_Ventricle::0.103321::-0.363458;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.455746;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 +5 231042 rs34771391 C T 100 PASS AC=1;AF=0.00998403;AN=214;NS=2504;DP=18195;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0295;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.C678T:p.G226G,SDHA:NM_001330758:exon7:c.C822T:p.G274G,SDHA:NM_004168:exon7:c.C822T:p.G274G;1000g2015aug_all=0.00998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34771391;CLNALLELEID=226822;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0241;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0090;AF_popmax=0.0255;AF_male=0.0095;AF_female=0.0084;AF_raw=0.0090;AF_afr=0.0255;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0241;AF_oth=0.0074;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0254;non_cancer_AF_popmax=.;controls_AF_popmax=0.0257;Kaviar_AF=0.0045407;Kaviar_AC=702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.877112;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 231111 rs1126417 T C 100 PASS AC=140;AF=0.653355;AN=214;NS=2504;DP=19860;EAS_AF=0.3363;AMR_AF=0.6902;AFR_AF=0.7874;EUR_AF=0.7475;SAS_AF=0.6759;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_001330758:exon7:c.T891C:p.P297P,SDHA:NM_004168:exon7:c.T891C:p.P297P;1000g2015aug_all=0.653355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126417;CLNALLELEID=135730;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7582;ExAC_nontcga_ALL=0.7045;ExAC_nontcga_AFR=0.7853;ExAC_nontcga_AMR=0.6446;ExAC_nontcga_EAS=0.3271;ExAC_nontcga_FIN=0.7652;ExAC_nontcga_NFE=0.7582;ExAC_nontcga_OTH=0.6844;ExAC_nontcga_SAS=0.6799;AF=0.7413;AF_popmax=0.7828;AF_male=0.7315;AF_female=0.7535;AF_raw=0.7410;AF_afr=0.7828;AF_sas=.;AF_amr=0.6430;AF_eas=0.3288;AF_nfe=0.7581;AF_fin=0.7663;AF_asj=0.7188;AF_oth=0.7619;non_topmed_AF_popmax=0.7823;non_neuro_AF_popmax=0.7875;non_cancer_AF_popmax=.;controls_AF_popmax=0.7838;Kaviar_AF=0.693354;Kaviar_AC=107194;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.244318::-0.228964;Heart_Left_Ventricle=Heart_Left_Ventricle::0.249077::-0.352509;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.521608;ALLELE_END GT 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|0 0|1 0|1 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 +5 231143 rs2288459 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=20847;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1555;ExAC_nontcga_AFR=0.5416;ExAC_nontcga_AMR=0.1840;ExAC_nontcga_EAS=0.0602;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.1243;ExAC_nontcga_SAS=0.0903;AF=0.2248;AF_popmax=0.5292;AF_male=0.2283;AF_female=0.2205;AF_raw=0.2248;AF_afr=0.5292;AF_sas=.;AF_amr=0.1816;AF_eas=0.0487;AF_nfe=0.1130;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5296;non_neuro_AF_popmax=0.5302;non_cancer_AF_popmax=.;controls_AF_popmax=0.5350;Kaviar_AF=0.152702;Kaviar_AC=23608;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.132462;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233560 rs7725241 G A 100 PASS AC=1;AF=0.114018;AN=214;NS=2504;DP=21202;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4107;EUR_AF=0.004;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114018;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7725241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0325;ExAC_nontcga_AFR=0.3322;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0023;AF=0.0928;AF_popmax=0.3262;AF_male=0.0955;AF_female=0.0894;AF_raw=0.0929;AF_afr=0.3262;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3268;non_neuro_AF_popmax=0.3293;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0313515;Kaviar_AC=4847;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233572 rs7710005 A G 100 PASS AC=20;AF=0.247204;AN=214;NS=2504;DP=21404;EAS_AF=0.0595;AMR_AF=0.2392;AFR_AF=0.6225;EUR_AF=0.1113;SAS_AF=0.0787;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7710005;CLNALLELEID=251941;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1364;ExAC_nontcga_ALL=0.1563;ExAC_nontcga_AFR=0.5385;ExAC_nontcga_AMR=0.1862;ExAC_nontcga_EAS=0.0610;ExAC_nontcga_FIN=0.0916;ExAC_nontcga_NFE=0.1284;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0902;AF=0.2242;AF_popmax=0.5270;AF_male=0.2273;AF_female=0.2204;AF_raw=0.2243;AF_afr=0.5270;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1128;AF_fin=0.0837;AF_asj=0.1586;AF_oth=0.1324;non_topmed_AF_popmax=0.5273;non_neuro_AF_popmax=0.5286;non_cancer_AF_popmax=.;controls_AF_popmax=0.5334;Kaviar_AF=0.153931;Kaviar_AC=23798;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233698 rs144252500 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19022;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.G858A:p.A286A,SDHA:NM_001330758:exon8:c.G1002A:p.A334A,SDHA:NM_004168:exon8:c.G1002A:p.A334A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144252500;CLNALLELEID=247306;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0007;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0012;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.202933;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233734 rs1041949 C G 100 PASS AC=20;AF=0.257788;AN=214;NS=2504;DP=18679;EAS_AF=0.0585;AMR_AF=0.2478;AFR_AF=0.6589;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C894G:p.S298S,SDHA:NM_001330758:exon8:c.C1038G:p.S346S,SDHA:NM_004168:exon8:c.C1038G:p.S346S;1000g2015aug_all=0.257788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1041949;CLNALLELEID=135720;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1373;ExAC_nontcga_ALL=0.1595;ExAC_nontcga_AFR=0.5709;ExAC_nontcga_AMR=0.1871;ExAC_nontcga_EAS=0.0609;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1290;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.0903;AF=0.2326;AF_popmax=0.5580;AF_male=0.2366;AF_female=0.2276;AF_raw=0.2328;AF_afr=0.5580;AF_sas=.;AF_amr=0.1828;AF_eas=0.0494;AF_nfe=0.1123;AF_fin=0.0835;AF_asj=0.1655;AF_oth=0.1333;non_topmed_AF_popmax=0.5583;non_neuro_AF_popmax=0.5607;non_cancer_AF_popmax=.;controls_AF_popmax=0.5666;Kaviar_AF=0.157113;Kaviar_AC=24290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.183824::-0.16847;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.378984;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235345 rs151170408 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17871;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1007G:p.S336X,SDHA:NM_001330758:exon9:c.C1151G:p.S384X,SDHA:NM_004168:exon9:c.C1151G:p.S384X;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151170408;CLNALLELEID=233457;CLNDN=Hereditary_cancer-predisposing_syndrome;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=12.451;CADD_raw_rankscore=0.983;CADD_phred=39;DANN_score=0.997;DANN_rankscore=0.773;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.711;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.103;Eigen-PC-raw=0.937;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.196;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.920;phyloP20way_mammalian_rankscore=0.431;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.978;phastCons20way_mammalian_rankscore=0.483;SiPhy_29way_logOdds=16.420;SiPhy_29way_logOdds_rankscore=0.835;Interpro_domain=FAD-dependent_oxidoreductase_2,_FAD_binding_domain|FAD/NAD(P)-binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.398012;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235364 rs35277230 C T 100 PASS AC=1;AF=0.113618;AN=214;NS=2504;DP=17489;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4107;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1026T:p.F342F,SDHA:NM_001330758:exon9:c.C1170T:p.F390F,SDHA:NM_004168:exon9:c.C1170T:p.F390F;1000g2015aug_all=0.113618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35277230;CLNALLELEID=135721;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0323;ExAC_nontcga_AFR=0.3323;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0007;AF=0.0927;AF_popmax=0.3257;AF_male=0.0957;AF_female=0.0890;AF_raw=0.0929;AF_afr=0.3257;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3261;non_neuro_AF_popmax=0.3281;non_cancer_AF_popmax=.;controls_AF_popmax=0.3302;Kaviar_AF=0.0312415;Kaviar_AC=4830;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.272564;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235416 rs201826964 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17730;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.T1078C:p.Y360H,SDHA:NM_001330758:exon9:c.T1222C:p.Y408H,SDHA:NM_004168:exon9:c.T1222C:p.Y408H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201826964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.625;MutationAssessor_score_rankscore=0.941;MutationAssessor_pred=H;FATHMM_score=0.0;FATHMM_converted_rankscore=0.626;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_converted_rankscore=0.790;PROVEAN_pred=D;VEST3_score=0.909;VEST3_rankscore=0.899;MetaSVM_score=0.363;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.556;MetaLR_rankscore=0.838;MetaLR_pred=D;M-CAP_score=0.154;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.665;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.036;CADD_raw_rankscore=0.831;CADD_phred=28.0;DANN_score=0.999;DANN_rankscore=0.947;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.646;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.913;Eigen-PC-raw=0.816;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.439;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.349;phyloP100way_vertebrate_rankscore=0.785;phyloP20way_mammalian=1.049;phyloP20way_mammalian_rankscore=0.752;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=13.168;SiPhy_29way_logOdds_rankscore=0.588;Interpro_domain=FAD-dependent_oxidoreductase_2,_FAD_binding_domain|FAD/NAD(P)-binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain\x3bFAD-dependent_oxidoreductase_2,_FAD_binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.452563;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236482 rs545929101 A G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=20216;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.003;EUR_AF=0.003;SAS_AF=0.001;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545929101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236587 rs150831951 G T 100 PASS AC=3;AF=0.0151757;AN=214;NS=2504;DP=18277;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0307;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_001330758:exon10:c.G1305T:p.L435L,SDHA:NM_004168:exon10:c.G1305T:p.L435L;1000g2015aug_all=0.0151757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35964044;CLNALLELEID=226823;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0195;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0364;ExAC_nontcga_NFE=0.0242;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0243;AF=0.0165;AF_popmax=0.0199;AF_male=0.0161;AF_female=0.0171;AF_raw=0.0166;AF_afr=0.0033;AF_sas=.;AF_amr=0.0094;AF_eas=0.0006;AF_nfe=0.0199;AF_fin=0.0388;AF_asj=0.0310;AF_oth=0.0276;non_topmed_AF_popmax=0.0206;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0256;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.137033;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236695 rs34779890 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=22340;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.C1269T:p.I423I,SDHA:NM_001330758:exon10:c.C1413T:p.I471I,SDHA:NM_004168:exon10:c.C1413T:p.I471I;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34779890;CLNALLELEID=226825;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0015;AF_popmax=0.0019;AF_male=0.0019;AF_female=0.0010;AF_raw=0.0015;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0243;AF_oth=0.0028;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001934;Kaviar_AC=299;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.192125;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236753 rs10057677 C T 100 PASS AC=20;AF=0.246805;AN=214;NS=2504;DP=19059;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.621;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.246805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10057677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1336;ExAC_nontcga_ALL=0.1519;ExAC_nontcga_AFR=0.5238;ExAC_nontcga_AMR=0.1793;ExAC_nontcga_EAS=0.0606;ExAC_nontcga_FIN=0.0908;ExAC_nontcga_NFE=0.1259;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.0894;AF=0.2207;AF_popmax=0.5220;AF_male=0.2247;AF_female=0.2155;AF_raw=0.2236;AF_afr=0.5220;AF_sas=.;AF_amr=0.1797;AF_eas=0.0488;AF_nfe=0.1111;AF_fin=0.0828;AF_asj=0.1586;AF_oth=0.1310;non_topmed_AF_popmax=0.5225;non_neuro_AF_popmax=0.5208;non_cancer_AF_popmax=.;controls_AF_popmax=0.5280;Kaviar_AF=0.138763;Kaviar_AC=21453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.17658::-0.17645;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236760 rs10057678 C A 100 PASS AC=22;AF=0.2498;AN=214;NS=2504;DP=18728;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6225;EUR_AF=0.1233;SAS_AF=0.0798;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.2498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10057678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1403;ExAC_nontcga_ALL=0.1602;ExAC_nontcga_AFR=0.5275;ExAC_nontcga_AMR=0.1864;ExAC_nontcga_EAS=0.0628;ExAC_nontcga_FIN=0.1226;ExAC_nontcga_NFE=0.1356;ExAC_nontcga_OTH=0.1287;ExAC_nontcga_SAS=0.0901;AF=0.2286;AF_popmax=0.5229;AF_male=0.2326;AF_female=0.2236;AF_raw=0.2324;AF_afr=0.5229;AF_sas=.;AF_amr=0.1844;AF_eas=0.0471;AF_nfe=0.1182;AF_fin=0.1171;AF_asj=0.1562;AF_oth=0.1485;non_topmed_AF_popmax=0.5234;non_neuro_AF_popmax=0.5203;non_cancer_AF_popmax=.;controls_AF_popmax=0.5289;Kaviar_AF=0.143219;Kaviar_AC=22142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.18097::-0.150365;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 240663 rs10037851 A T 100 PASS AC=20;AF=0.247604;AN=214;NS=2504;DP=17151;EAS_AF=0.0595;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10037851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2230;AF_popmax=0.5257;AF_male=0.2265;AF_female=0.2186;AF_raw=0.2246;AF_afr=0.5257;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1125;AF_fin=0.0835;AF_asj=0.1586;AF_oth=0.1326;non_topmed_AF_popmax=0.5259;non_neuro_AF_popmax=0.5274;non_cancer_AF_popmax=.;controls_AF_popmax=0.5337;Kaviar_AF=0.0205883;Kaviar_AC=3183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178967::-0.177608;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251055 rs41304878 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19599;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41304878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0087;AF_popmax=0.0131;AF_male=0.0070;AF_female=0.0108;AF_raw=0.0087;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0127;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0151;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0198;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.178484;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251178 rs35502109 G A 100 PASS AC=4;AF=0.00199681;AN=214;NS=2504;DP=18819;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.G1479A:p.K493K,SDHA:NM_004168:exon12:c.G1623A:p.K541K;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35502109;CLNALLELEID=247307;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0010;AF=0.0012;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.035141;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251207 rs181238392 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18327;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.C1508T:p.T503M,SDHA:NM_004168:exon12:c.C1652T:p.T551M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181238392;CLNALLELEID=395281;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.945;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.707;Polyphen2_HVAR_rankscore=0.525;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.185;MutationAssessor_score_rankscore=0.615;MutationAssessor_pred=M;FATHMM_score=-1.36;FATHMM_converted_rankscore=0.801;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.277;PROVEAN_pred=N;VEST3_score=0.721;VEST3_rankscore=0.721;MetaSVM_score=0.281;MetaSVM_rankscore=0.872;MetaSVM_pred=D;MetaLR_score=0.573;MetaLR_rankscore=0.846;MetaLR_pred=D;M-CAP_score=0.282;M-CAP_rankscore=0.903;M-CAP_pred=D;REVEL_score=0.598;REVEL_rankscore=0.843;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.930;CADD_raw_rankscore=0.529;CADD_phred=23.5;DANN_score=0.998;DANN_rankscore=0.900;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.303;Eigen-PC-raw=0.198;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=7.201;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.948;phastCons20way_mammalian_rankscore=0.423;SiPhy_29way_logOdds=13.133;SiPhy_29way_logOdds_rankscore=0.586;Interpro_domain=Fumarate_reductase/succinate_dehydrogenase_flavoprotein-like,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.709e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.958665;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251419 rs10041187 C T 100 PASS AC=20;AF=0.248203;AN=214;NS=2504;DP=21650;EAS_AF=0.0585;AMR_AF=0.2421;AFR_AF=0.6256;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10041187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.4927;ExAC_nontcga_AMR=0.1652;ExAC_nontcga_EAS=0.0565;ExAC_nontcga_FIN=0.0841;ExAC_nontcga_NFE=0.1198;ExAC_nontcga_OTH=0.1077;ExAC_nontcga_SAS=0.0866;AF=0.2241;AF_popmax=0.5298;AF_male=0.2270;AF_female=0.2204;AF_raw=0.2249;AF_afr=0.5298;AF_sas=.;AF_amr=0.1777;AF_eas=0.0483;AF_nfe=0.1121;AF_fin=0.0832;AF_asj=0.1586;AF_oth=0.1315;non_topmed_AF_popmax=0.5300;non_neuro_AF_popmax=0.5331;non_cancer_AF_popmax=.;controls_AF_popmax=0.5399;Kaviar_AF=0.118194;Kaviar_AC=18273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.297854;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251469 rs10039029 G A 100 PASS AC=20;AF=0.248403;AN=214;NS=2504;DP=21830;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6271;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.G1536A:p.T512T,SDHA:NM_004168:exon13:c.G1680A:p.T560T;1000g2015aug_all=0.248403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139449;CLNALLELEID=135723;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1522;ExAC_nontcga_AFR=0.5301;ExAC_nontcga_AMR=0.1825;ExAC_nontcga_EAS=0.0595;ExAC_nontcga_FIN=0.0909;ExAC_nontcga_NFE=0.1291;ExAC_nontcga_OTH=0.1258;ExAC_nontcga_SAS=0.0902;AF=0.2240;AF_popmax=0.5294;AF_male=0.2272;AF_female=0.2200;AF_raw=0.2248;AF_afr=0.5294;AF_sas=.;AF_amr=0.1785;AF_eas=0.0489;AF_nfe=0.1123;AF_fin=0.0834;AF_asj=0.1562;AF_oth=0.1303;non_topmed_AF_popmax=0.5298;non_neuro_AF_popmax=0.5319;non_cancer_AF_popmax=.;controls_AF_popmax=0.5392;Kaviar_AF=0.136589;Kaviar_AC=21117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.239810;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251526 rs201454617 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.C1593T:p.I531I,SDHA:NM_004168:exon13:c.C1737T:p.I579I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201454617;CLNALLELEID=395303;CLNDN=Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.746e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.106e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421960;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251541 rs77210621 A G 100 PASS AC=20;AF=0.248403;AN=214;NS=2504;DP=18487;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6271;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.A1608G:p.A536A,SDHA:NM_004168:exon13:c.A1752G:p.A584A;1000g2015aug_all=0.248403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13070;CLNALLELEID=135724;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1357;ExAC_nontcga_ALL=0.1556;ExAC_nontcga_AFR=0.5416;ExAC_nontcga_AMR=0.1826;ExAC_nontcga_EAS=0.0605;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.1246;ExAC_nontcga_SAS=0.0902;AF=0.2250;AF_popmax=0.5301;AF_male=0.2284;AF_female=0.2208;AF_raw=0.2254;AF_afr=0.5301;AF_sas=.;AF_amr=0.1828;AF_eas=0.0488;AF_nfe=0.1128;AF_fin=0.0834;AF_asj=0.1597;AF_oth=0.1338;non_topmed_AF_popmax=0.5303;non_neuro_AF_popmax=0.5320;non_cancer_AF_popmax=.;controls_AF_popmax=0.5386;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.431633;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 254442 rs142448063 C T 100 PASS AC=214;AF=0.973442;AN=214;NS=2504;DP=19453;EAS_AF=0.871;AMR_AF=0.9986;AFR_AF=1;EUR_AF=1;SAS_AF=0.998;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.973442;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs387134;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.9962;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=0.8806;ExAC_nontcga_FIN=0.9988;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9986;AF=0.9927;AF_popmax=1;AF_male=0.9919;AF_female=0.9936;AF_raw=0.9922;AF_afr=0.9990;AF_sas=.;AF_amr=1;AF_eas=0.8626;AF_nfe=0.9998;AF_fin=0.9988;AF_asj=0.9966;AF_oth=0.9981;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.323974;Kaviar_AC=50087;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1196537|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 254636 rs35549341 C T 100 PASS AC=17;AF=0.0355431;AN=214;NS=2504;DP=17978;EAS_AF=0;AMR_AF=0.0605;AFR_AF=0.0038;EUR_AF=0.1193;SAS_AF=0.0112;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34504623;CLNALLELEID=251943;CLNDN=Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0593;ExAC_nontcga_AFR=0.0225;ExAC_nontcga_AMR=0.0559;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1520;ExAC_nontcga_NFE=0.1189;ExAC_nontcga_OTH=0.0976;ExAC_nontcga_SAS=0.0157;AF=0.0842;AF_popmax=0.1168;AF_male=0.0807;AF_female=0.0886;AF_raw=0.0831;AF_afr=0.0216;AF_sas=.;AF_amr=0.0618;AF_eas=0;AF_nfe=0.1168;AF_fin=0.1240;AF_asj=0.0833;AF_oth=0.1136;non_topmed_AF_popmax=0.1190;non_neuro_AF_popmax=0.1169;non_cancer_AF_popmax=.;controls_AF_popmax=0.1198;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1196537|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.090341;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +5 256422 rs200868002 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20106;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200868002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.750638;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 256472 rs6961 G A 100 PASS AC=53;AF=0.335264;AN=214;NS=2504;DP=20293;EAS_AF=0.2312;AMR_AF=0.3127;AFR_AF=0.6437;EUR_AF=0.2286;SAS_AF=0.1513;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001330758:exon13:c.G1689A:p.V563V,SDHA:NM_001294332:exon14:c.G1788A:p.V596V,SDHA:NM_004168:exon15:c.G1932A:p.V644V;1000g2015aug_all=0.335264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6961;CLNALLELEID=135725;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1436;ExAC_nontcga_ALL=0.1717;ExAC_nontcga_AFR=0.5550;ExAC_nontcga_AMR=0.2067;ExAC_nontcga_EAS=0.0845;ExAC_nontcga_FIN=0.1133;ExAC_nontcga_NFE=0.1420;ExAC_nontcga_OTH=0.1364;ExAC_nontcga_SAS=0.0982;AF=0.2404;AF_popmax=0.5422;AF_male=0.2434;AF_female=0.2367;AF_raw=0.2370;AF_afr=0.5422;AF_sas=.;AF_amr=0.1987;AF_eas=0.0557;AF_nfe=0.1223;AF_fin=0.0924;AF_asj=0.1729;AF_oth=0.1451;non_topmed_AF_popmax=0.5426;non_neuro_AF_popmax=0.5457;non_cancer_AF_popmax=.;controls_AF_popmax=0.5497;Kaviar_AF=0.166518;Kaviar_AC=25744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.194882::-0.170548;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.240301;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 +5 256509 rs6962 G A 100 PASS AC=19;AF=0.175319;AN=214;NS=2504;DP=20065;EAS_AF=0.0585;AMR_AF=0.2046;AFR_AF=0.3744;EUR_AF=0.1064;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001330758:exon13:c.G1726A:p.V576I,SDHA:NM_001294332:exon14:c.G1825A:p.V609I,SDHA:NM_004168:exon15:c.G1969A:p.V657I;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6962;CLNALLELEID=135726;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.391;Polyphen2_HDIV_rankscore=0.328;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_rankscore=0.309;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=P;MutationAssessor_score=1.13;MutationAssessor_score_rankscore=0.290;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-0.45;PROVEAN_converted_rankscore=0.160;PROVEAN_pred=N;VEST3_score=0.174;VEST3_rankscore=0.211;MetaSVM_score=-1.065;MetaSVM_rankscore=0.104;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.913;CADD_raw_rankscore=0.181;CADD_phred=10.15;DANN_score=0.719;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.512;Eigen-PC-raw=-0.458;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.12;GERP++_RS_rankscore=0.473;phyloP100way_vertebrate=4.703;phyloP100way_vertebrate_rankscore=0.613;phyloP20way_mammalian=0.893;phyloP20way_mammalian_rankscore=0.410;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.257;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=13.859;SiPhy_29way_logOdds_rankscore=0.629;Interpro_domain=Fumarate_reductase/succinate_dehydrogenase_flavoprotein-like,_C-terminal;GTEx_V6p_gene=ENSG00000073578.12|ENSG00000073578.12|ENSG00000249915.3|ENSG00000250848.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000164366.3|ENSG00000073578.12|ENSG00000248925.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000250848.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000250848.1|ENSG00000164366.3|ENSG00000073578.12;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1299;ExAC_nontcga_ALL=0.1294;ExAC_nontcga_AFR=0.3090;ExAC_nontcga_AMR=0.1611;ExAC_nontcga_EAS=0.0598;ExAC_nontcga_FIN=0.0897;ExAC_nontcga_NFE=0.1213;ExAC_nontcga_OTH=0.1095;ExAC_nontcga_SAS=0.0863;AF=0.1613;AF_popmax=0.3153;AF_male=0.1627;AF_female=0.1596;AF_raw=0.1629;AF_afr=0.3153;AF_sas=.;AF_amr=0.1537;AF_eas=0.0477;AF_nfe=0.1079;AF_fin=0.0824;AF_asj=0.1552;AF_oth=0.1149;non_topmed_AF_popmax=0.3152;non_neuro_AF_popmax=0.3176;non_cancer_AF_popmax=.;controls_AF_popmax=0.3180;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.154982::-0.164463;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.946319;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37294473 rs1045908 T C 100 PASS AC=68;AF=0.277157;AN=214;NS=2504;DP=15068;EAS_AF=0.3829;AMR_AF=0.3156;AFR_AF=0.112;EUR_AF=0.2972;SAS_AF=0.3436;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1045908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2929;ExAC_nontcga_ALL=0.3095;ExAC_nontcga_AFR=0.1424;ExAC_nontcga_AMR=0.3168;ExAC_nontcga_EAS=0.3947;ExAC_nontcga_FIN=0.2355;ExAC_nontcga_NFE=0.3083;ExAC_nontcga_OTH=0.3051;ExAC_nontcga_SAS=0.3836;AF=0.2408;AF_popmax=0.3808;AF_male=0.2417;AF_female=0.2398;AF_raw=0.2411;AF_afr=0.1283;AF_sas=.;AF_amr=0.2837;AF_eas=0.3808;AF_nfe=0.2890;AF_fin=0.2240;AF_asj=0.3621;AF_oth=0.2472;non_topmed_AF_popmax=0.3818;non_neuro_AF_popmax=0.3808;non_cancer_AF_popmax=.;controls_AF_popmax=0.3958;Kaviar_AF=0.28281;Kaviar_AC=43723;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.288645;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37298896 rs550906640 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20723;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550906640;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.183e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.344e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37307389 rs74646699 T C 100 PASS AC=5;AF=0.0589058;AN=214;NS=2504;DP=21030;EAS_AF=0.0298;AMR_AF=0.0274;AFR_AF=0.0802;EUR_AF=0.0477;SAS_AF=0.0941;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74646699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0406;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0688;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0366;ExAC_nontcga_FIN=0.0652;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0519;ExAC_nontcga_SAS=0.0875;AF=0.0550;AF_popmax=0.0703;AF_male=0.0527;AF_female=0.0578;AF_raw=0.0550;AF_afr=0.0703;AF_sas=.;AF_amr=0.0264;AF_eas=0.0470;AF_nfe=0.0492;AF_fin=0.0582;AF_asj=0.0276;AF_oth=0.0432;non_topmed_AF_popmax=0.0707;non_neuro_AF_popmax=0.0692;non_cancer_AF_popmax=.;controls_AF_popmax=0.0696;Kaviar_AF=0.0483823;Kaviar_AC=7480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.994926;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +5 37309371 rs3835198 TAGA T 100 PASS AC=67;AF=0.269169;AN=214;NS=2504;DP=19452;EAS_AF=0.3631;AMR_AF=0.3141;AFR_AF=0.112;EUR_AF=0.2952;SAS_AF=0.3262;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.269169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835198;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2911;ExAC_nontcga_ALL=0.3002;ExAC_nontcga_AFR=0.1306;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.3763;ExAC_nontcga_FIN=0.2337;ExAC_nontcga_NFE=0.3048;ExAC_nontcga_OTH=0.2940;ExAC_nontcga_SAS=0.3676;AF=0.2381;AF_popmax=0.3618;AF_male=0.2389;AF_female=0.2370;AF_raw=0.2390;AF_afr=0.1267;AF_sas=.;AF_amr=0.2849;AF_eas=0.3618;AF_nfe=0.2863;AF_fin=0.2242;AF_asj=0.3611;AF_oth=0.2449;non_topmed_AF_popmax=0.3630;non_neuro_AF_popmax=0.3618;non_cancer_AF_popmax=.;controls_AF_popmax=0.3709;Kaviar_AF=0.0083375;Kaviar_AC=1289;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.956893;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37314287 rs532763881 T TA 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14412;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532763881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0013;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0035;ExAC_nontcga_SAS=0.0004;AF=0.0016;AF_popmax=0.0023;AF_male=0.0014;AF_female=0.0018;AF_raw=0.0016;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0012;AF_asj=0.0035;AF_oth=0.0009;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0028;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37318029 rs564211762 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37325919 rs75776178 A C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +5 37325940 rs79019688 T C 100 PASS AC=26;AF=0.147963;AN=214;NS=2504;DP=15568;EAS_AF=0.123;AMR_AF=0.1614;AFR_AF=0.112;EUR_AF=0.1461;SAS_AF=0.2147;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147963;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79019688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1479;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1534;AF_popmax=0.1929;AF_male=0.1516;AF_female=0.1557;AF_raw=0.1526;AF_afr=0.1167;AF_sas=.;AF_amr=0.1929;AF_eas=0.1248;AF_nfe=0.1649;AF_fin=0.1952;AF_asj=0.1759;AF_oth=0.1638;non_topmed_AF_popmax=0.1933;non_neuro_AF_popmax=0.1898;non_cancer_AF_popmax=.;controls_AF_popmax=0.2281;Kaviar_AF=0.0292881;Kaviar_AC=4528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37327832 rs201172703 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17954;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon18:c.C1923T:p.N641N,NUP155:NM_004298:exon18:c.C1746T:p.N582N,NUP155:NM_153485:exon18:c.C1923T:p.N641N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201172703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.738026;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37328643 rs187454429 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18225;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187454429;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0012;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37331795 rs75255795 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15080;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon14:c.T1621C:p.L541L,NUP155:NM_004298:exon14:c.T1444C:p.L482L,NUP155:NM_153485:exon14:c.T1621C:p.L541L;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75255795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0010;AF=0.0033;AF_popmax=0.0059;AF_male=0.0034;AF_female=0.0032;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0017;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.333359;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37333727 rs150594 A G 100 PASS AC=29;AF=0.355032;AN=214;NS=2504;DP=16393;EAS_AF=0.123;AMR_AF=0.2219;AFR_AF=0.854;EUR_AF=0.1531;SAS_AF=0.2219;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A;1000g2015aug_all=0.355032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150594;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1599;ExAC_nontcga_ALL=0.2359;ExAC_nontcga_AFR=0.7710;ExAC_nontcga_AMR=0.2338;ExAC_nontcga_EAS=0.1193;ExAC_nontcga_FIN=0.2121;ExAC_nontcga_NFE=0.1698;ExAC_nontcga_OTH=0.2126;ExAC_nontcga_SAS=0.2200;AF=0.3361;AF_popmax=0.7597;AF_male=0.3394;AF_female=0.3319;AF_raw=0.3362;AF_afr=0.7597;AF_sas=.;AF_amr=0.2363;AF_eas=0.1236;AF_nfe=0.1689;AF_fin=0.1910;AF_asj=0.1793;AF_oth=0.2066;non_topmed_AF_popmax=0.7600;non_neuro_AF_popmax=0.7619;non_cancer_AF_popmax=.;controls_AF_popmax=0.7645;Kaviar_AF=0.221685;Kaviar_AC=34273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000272|hsa-miR-215-5p|Experimental,MIMAT0003393|hsa-miR-425-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118516;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37337942 rs200787798 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14594;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon12:c.A1325G:p.Q442R,NUP155:NM_004298:exon12:c.A1148G:p.Q383R,NUP155:NM_153485:exon12:c.A1325G:p.Q442R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200787798;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.501;SIFT_converted_rankscore=0.259;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.269;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=D;MutationAssessor_score=1.275;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.492;VEST3_rankscore=0.551;MetaSVM_score=-1.066;MetaSVM_rankscore=0.104;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.328;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.235;M-CAP_pred=T;REVEL_score=0.133;REVEL_rankscore=0.367;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.170;CADD_raw_rankscore=0.322;CADD_phred=17.31;DANN_score=0.991;DANN_rankscore=0.519;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.708;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.082;Eigen-PC-raw=0.113;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=7.026;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.819;SiPhy_29way_logOdds_rankscore=0.696;Interpro_domain=Nucleoporin,_Nup133/Nup155-like,_N-terminal\x3bNucleoporin,_Nup133/Nup155-like,_N-terminal|WD40/YVTN_repeat-like-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000256|hsa-miR-181a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.711293;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37341352 rs13172306 T C 100 PASS AC=50;AF=0.188698;AN=214;NS=2504;DP=17029;EAS_AF=0.2976;AMR_AF=0.2104;AFR_AF=0.0431;EUR_AF=0.2296;SAS_AF=0.2157;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.188698;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13172306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.2115;ExAC_nontcga_ALL=0.2075;ExAC_nontcga_AFR=0.0554;ExAC_nontcga_AMR=0.2018;ExAC_nontcga_EAS=0.3172;ExAC_nontcga_FIN=0.2004;ExAC_nontcga_NFE=0.2127;ExAC_nontcga_OTH=0.2262;ExAC_nontcga_SAS=0.2279;AF=0.1720;AF_popmax=0.3148;AF_male=0.1719;AF_female=0.1721;AF_raw=0.1723;AF_afr=0.0563;AF_sas=.;AF_amr=0.2075;AF_eas=0.3148;AF_nfe=0.2135;AF_fin=0.1920;AF_asj=0.2483;AF_oth=0.1961;non_topmed_AF_popmax=0.3155;non_neuro_AF_popmax=0.3148;non_cancer_AF_popmax=.;controls_AF_popmax=0.3220;Kaviar_AF=0.203574;Kaviar_AC=31473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.829204;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37350390 rs217776 C A 100 PASS AC=28;AF=0.33766;AN=214;NS=2504;DP=17328;EAS_AF=0.123;AMR_AF=0.219;AFR_AF=0.7912;EUR_AF=0.1511;SAS_AF=0.2219;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33766;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1597;ExAC_nontcga_ALL=0.2273;ExAC_nontcga_AFR=0.7210;ExAC_nontcga_AMR=0.2287;ExAC_nontcga_EAS=0.1196;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.1654;ExAC_nontcga_OTH=0.2035;ExAC_nontcga_SAS=0.2158;AF=0.3246;AF_popmax=0.7168;AF_male=0.3278;AF_female=0.3206;AF_raw=0.3240;AF_afr=0.7168;AF_sas=.;AF_amr=0.2317;AF_eas=0.1237;AF_nfe=0.1692;AF_fin=0.1918;AF_asj=0.1759;AF_oth=0.2072;non_topmed_AF_popmax=0.7173;non_neuro_AF_popmax=0.7174;non_cancer_AF_popmax=.;controls_AF_popmax=0.7190;Kaviar_AF=0.215948;Kaviar_AC=33386;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37351270 rs72736781 C A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16340;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72736781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0049;AF=0.0014;AF_popmax=0.0023;AF_male=0.0016;AF_female=0.0012;AF_raw=0.0014;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0006;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0026;Kaviar_AF=0.00163;Kaviar_AC=252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37352816 rs115828387 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18625;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115828387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0006;AF_popmax=0.0017;AF_male=0.0005;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37352829 rs77520181 G A 100 PASS AC=2;AF=0.0656949;AN=214;NS=2504;DP=18669;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.2254;EUR_AF=0.005;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0656949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77520181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0234;ExAC_nontcga_AFR=0.2191;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0148;ExAC_nontcga_SAS=0.0089;AF=0.0616;AF_popmax=0.2135;AF_male=0.0640;AF_female=0.0587;AF_raw=0.0619;AF_afr=0.2135;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0032;AF_fin=0;AF_asj=0;AF_oth=0.0156;non_topmed_AF_popmax=0.2138;non_neuro_AF_popmax=0.2117;non_cancer_AF_popmax=.;controls_AF_popmax=0.2051;Kaviar_AF=0.021882;Kaviar_AC=3383;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37364133 rs111523309 CTTT C 100 PASS AC=1;AF=0.0169728;AN=214;NS=2504;DP=19053;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.062;EUR_AF=0.001;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111523309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0479;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.135e-05;AF=0.0122;AF_popmax=0.0428;AF_male=0.0121;AF_female=0.0122;AF_raw=0.0122;AF_afr=0.0428;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0035;AF_oth=0.0018;non_topmed_AF_popmax=0.0426;non_neuro_AF_popmax=0.0452;non_cancer_AF_popmax=.;controls_AF_popmax=0.0459;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37364443 rs217852 C T 100 PASS AC=214;AF=0.969649;AN=214;NS=2504;DP=15064;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.8873;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9905;ExAC_nontcga_AFR=0.8949;ExAC_nontcga_AMR=0.9953;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9713;AF_popmax=1;AF_male=0.9706;AF_female=0.9721;AF_raw=0.9712;AF_afr=0.8992;AF_sas=.;AF_amr=0.9870;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9889;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426196;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9905;ExAC_nontcga_AFR=0.8949;ExAC_nontcga_AMR=0.9953;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9713;AF_popmax=1;AF_male=0.9706;AF_female=0.9721;AF_raw=0.9712;AF_afr=0.8992;AF_sas=.;AF_amr=0.9870;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9889;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426196;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 37371059 rs61756070 G A 100 PASS AC=4;AF=0.0071885;AN=214;NS=2504;DP=13730;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon1:c.C21T:p.G7G,NUP155:NM_153485:exon1:c.C21T:p.G7G;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756070;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0225;AF=0.0072;AF_popmax=0.0100;AF_male=0.0076;AF_female=0.0067;AF_raw=0.0072;AF_afr=0.0020;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0101;AF_asj=0.0276;AF_oth=0.0074;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0087903;Kaviar_AC=1359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000179619|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1898549|N/A|STAT1|PAZAR,OREG1236977|N/A|SMARCA4|PAZAR,OREG1786159|N/A|RBL2|PAZAR,OREG1792151|N/A|RBL2|PAZAR,OREG1841146|N/A|RB1|PAZAR,OREG1862360|N/A|SPI1|PAZAR,OREG1821245|N/A|RBL2|PAZAR,OREG1805811|N/A|RBL2|PAZAR,OREG1551289|N/A|ETS1|PAZAR,OREG1851033|N/A|RB1|PAZAR,OREG1846798|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.249928;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155756623 rs191373760 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16909;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191373760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0025;AF_male=0.0015;AF_female=0.0015;AF_raw=0.0016;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155771458 rs200386436 G T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=18149;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200386436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0068;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0006;AF=0.0072;AF_popmax=0.0106;AF_male=0.0076;AF_female=0.0068;AF_raw=0.0072;AF_afr=0.0029;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0066;AF_asj=0.0379;AF_oth=0.0037;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0098;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.400906;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155771579 rs1801193 T C 100 PASS AC=100;AF=0.485423;AN=214;NS=2504;DP=16931;EAS_AF=0.7937;AMR_AF=0.464;AFR_AF=0.2436;EUR_AF=0.4473;SAS_AF=0.5491;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.T81C:p.Y27Y,SGCD:NM_000337:exon3:c.T84C:p.Y28Y,SGCD:NM_172244:exon3:c.T84C:p.Y28Y;1000g2015aug_all=0.485423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801193;CLNALLELEID=57289;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4316;ExAC_nontcga_ALL=0.4699;ExAC_nontcga_AFR=0.2703;ExAC_nontcga_AMR=0.4423;ExAC_nontcga_EAS=0.7856;ExAC_nontcga_FIN=0.4539;ExAC_nontcga_NFE=0.4358;ExAC_nontcga_OTH=0.5101;ExAC_nontcga_SAS=0.5583;AF=0.4075;AF_popmax=0.7889;AF_male=0.4102;AF_female=0.4040;AF_raw=0.4076;AF_afr=0.2650;AF_sas=.;AF_amr=0.4645;AF_eas=0.7889;AF_nfe=0.4324;AF_fin=0.4485;AF_asj=0.5345;AF_oth=0.4388;non_topmed_AF_popmax=0.7883;non_neuro_AF_popmax=0.7889;non_cancer_AF_popmax=.;controls_AF_popmax=0.7856;Kaviar_AF=0.453118;Kaviar_AC=70053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.799992;ALLELE_END GT 0|1 1|1 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 1|1 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 0|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +5 155935708 rs45559835 G A 100 PASS AC=9;AF=0.0189696;AN=214;NS=2504;DP=17897;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.003;EUR_AF=0.0517;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon3:c.G287A:p.R96Q,SGCD:NM_000337:exon4:c.G290A:p.R97Q,SGCD:NM_172244:exon4:c.G290A:p.R97Q;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45559835;CLNALLELEID=57281;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.826;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.105;Polyphen2_HVAR_rankscore=0.396;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.429;MutationTaster_pred=D;MutationAssessor_score=1.83;MutationAssessor_score_rankscore=0.482;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_converted_rankscore=0.956;FATHMM_pred=D;PROVEAN_score=-3.23;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.223;VEST3_rankscore=0.274;MetaSVM_score=-0.123;MetaSVM_rankscore=0.796;MetaSVM_pred=T;MetaLR_score=0.337;MetaLR_rankscore=0.704;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.422;REVEL_rankscore=0.734;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.006;CADD_raw_rankscore=0.937;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_rankscore=0.525;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.480;GenoCanyon_score=0.961;GenoCanyon_score_rankscore=0.285;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=4.201;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.283;SiPhy_29way_logOdds_rankscore=0.539;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0642;ExAC_nontcga_ALL=0.0439;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.0314;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0641;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0224;AF=0.0393;AF_popmax=0.0577;AF_male=0.0395;AF_female=0.0390;AF_raw=0.0392;AF_afr=0.0105;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0577;AF_fin=0.0455;AF_asj=0.0828;AF_oth=0.0414;non_topmed_AF_popmax=0.0550;non_neuro_AF_popmax=0.0573;non_cancer_AF_popmax=.;controls_AF_popmax=0.0504;Kaviar_AF=0.0441327;Kaviar_AC=6823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.317093;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +5 155935720 rs11748588 T C 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11748588;CLNALLELEID=45433;CLNDN=Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0192;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0027;AF=0.0078;AF_popmax=0.0106;AF_male=0.0080;AF_female=0.0075;AF_raw=0.0078;AF_afr=0.0016;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0210;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.006216;Kaviar_AC=961;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569232;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 156022101 rs200525080 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21401;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200525080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0039;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 156074654 rs141437738 TAAATTGA T 100 PASS AC=186;AF=0.89996;AN=214;NS=2504;DP=18386;EAS_AF=0.9871;AMR_AF=0.9164;AFR_AF=0.8578;EUR_AF=0.8678;SAS_AF=0.8885;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.89996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141437738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8864;AF_popmax=0.9865;AF_male=0.8866;AF_female=0.8862;AF_raw=0.8860;AF_afr=0.8576;AF_sas=.;AF_amr=0.9222;AF_eas=0.9865;AF_nfe=0.8855;AF_fin=0.9107;AF_asj=0.9;AF_oth=0.8762;non_topmed_AF_popmax=0.9861;non_neuro_AF_popmax=0.9865;non_cancer_AF_popmax=.;controls_AF_popmax=0.9857;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000774931|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1656508|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 +5 172659511 rs703752 C A 100 PASS AC=71;AF=0.255591;AN=214;NS=2504;DP=15647;EAS_AF=0.0724;AMR_AF=0.2594;AFR_AF=0.2511;EUR_AF=0.34;SAS_AF=0.3609;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=NKX2-5;GeneDetail.refGene=NM_001166175:c.*989G>T\x3bNM_004387:c.*61G>T\x3bNM_001166176:c.*835G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.255591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703752;CLNALLELEID=207169;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3087;AF_popmax=0.3627;AF_male=0.3036;AF_female=0.3151;AF_raw=0.3087;AF_afr=0.2758;AF_sas=.;AF_amr=0.2476;AF_eas=0.0443;AF_nfe=0.3627;AF_fin=0.2809;AF_asj=0.3276;AF_oth=0.3173;non_topmed_AF_popmax=0.3618;non_neuro_AF_popmax=0.3624;non_cancer_AF_popmax=.;controls_AF_popmax=0.3542;Kaviar_AF=0.0632786;Kaviar_AC=9783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.326052;ALLELE_END GT 1|1 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 1|1 +5 172660004 rs72554028 C T 100 PASS AC=4;AF=0.00479233;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_004387:exon2:c.G543A:p.Q181Q;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72554028;CLNALLELEID=45320;CLNDN=Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0091;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0100;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0137;AF=0.0043;AF_popmax=0.0083;AF_male=0.0040;AF_female=0.0047;AF_raw=0.0043;AF_afr=0.0008;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0026;AF_asj=0.0310;AF_oth=0.0092;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0067722;Kaviar_AC=1047;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.955476;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 172660099 rs201582515 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15588;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_004387:exon2:c.G448A:p.V150I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201582515;CLNALLELEID=509759;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.725;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_rankscore=0.545;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.473;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.165;MutationAssessor_score_rankscore=0.090;MutationAssessor_pred=N;FATHMM_score=-3.79;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.8;VEST3_rankscore=0.789;MetaSVM_score=0.798;MetaSVM_rankscore=0.944;MetaSVM_pred=D;MetaLR_score=0.818;MetaLR_rankscore=0.939;MetaLR_pred=D;M-CAP_score=0.128;M-CAP_rankscore=0.810;M-CAP_pred=D;REVEL_score=0.729;REVEL_rankscore=0.906;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.295;CADD_raw_rankscore=0.869;CADD_phred=29.1;DANN_score=0.999;DANN_rankscore=0.943;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.736;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.306;Eigen-PC-raw=0.358;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.1;GERP++_RS_rankscore=0.470;phyloP100way_vertebrate=6.143;phyloP100way_vertebrate_rankscore=0.713;phyloP20way_mammalian=0.928;phyloP20way_mammalian_rankscore=0.438;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.868;SiPhy_29way_logOdds_rankscore=0.858;Interpro_domain=Homeobox_domain|Homeobox_domain-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.954493;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172660523 rs3095871 T A 100 PASS AC=98;AF=0.610623;AN=214;NS=2504;DP=13884;EAS_AF=0.2768;AMR_AF=0.4712;AFR_AF=0.9508;EUR_AF=0.5229;SAS_AF=0.684;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3095871;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4707;ExAC_nontcga_AFR=0.5286;ExAC_nontcga_AMR=0.4255;ExAC_nontcga_EAS=0.2778;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3978;ExAC_nontcga_OTH=0.4615;ExAC_nontcga_SAS=0.4960;AF=0.3964;AF_popmax=0.6313;AF_male=0.3939;AF_female=0.3998;AF_raw=0.3768;AF_afr=0.6313;AF_sas=.;AF_amr=0.2593;AF_eas=0.1305;AF_nfe=0.2944;AF_fin=0.3166;AF_asj=0.2107;AF_oth=0.3213;non_topmed_AF_popmax=0.6311;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6337;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3095871;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4707;ExAC_nontcga_AFR=0.5286;ExAC_nontcga_AMR=0.4255;ExAC_nontcga_EAS=0.2778;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3978;ExAC_nontcga_OTH=0.4615;ExAC_nontcga_SAS=0.4960;AF=0.3964;AF_popmax=0.6313;AF_male=0.3939;AF_female=0.3998;AF_raw=0.3768;AF_afr=0.6313;AF_sas=.;AF_amr=0.2593;AF_eas=0.1305;AF_nfe=0.2944;AF_fin=0.3166;AF_asj=0.2107;AF_oth=0.3213;non_topmed_AF_popmax=0.6311;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6337;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 1|0 0|1 1|1 1|0 0|1 0|0 1|1 1|0 0|0 0|1 1|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 1|0 +5 172660527 rs55880439 T A 100 PASS AC=85;AF=0.403355;AN=214;NS=2504;DP=14076;EAS_AF=0.5496;AMR_AF=0.5461;AFR_AF=0.2035;EUR_AF=0.3956;SAS_AF=0.4294;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55880439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4457;ExAC_nontcga_AFR=0.2062;ExAC_nontcga_AMR=0.4362;ExAC_nontcga_EAS=0.4697;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3689;ExAC_nontcga_OTH=0.43;ExAC_nontcga_SAS=0.4805;AF=0.3705;AF_popmax=0.5706;AF_male=0.3662;AF_female=0.3762;AF_raw=0.3393;AF_afr=0.2262;AF_sas=.;AF_amr=0.53;AF_eas=0.5706;AF_nfe=0.4262;AF_fin=0.2608;AF_asj=0.2874;AF_oth=0.3772;non_topmed_AF_popmax=0.5682;non_neuro_AF_popmax=0.5706;non_cancer_AF_popmax=.;controls_AF_popmax=0.5831;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55880439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4457;ExAC_nontcga_AFR=0.2062;ExAC_nontcga_AMR=0.4362;ExAC_nontcga_EAS=0.4697;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3689;ExAC_nontcga_OTH=0.43;ExAC_nontcga_SAS=0.4805;AF=0.3705;AF_popmax=0.5706;AF_male=0.3662;AF_female=0.3762;AF_raw=0.3393;AF_afr=0.2262;AF_sas=.;AF_amr=0.53;AF_eas=0.5706;AF_nfe=0.4262;AF_fin=0.2608;AF_asj=0.2874;AF_oth=0.3772;non_topmed_AF_popmax=0.5682;non_neuro_AF_popmax=0.5706;non_cancer_AF_popmax=.;controls_AF_popmax=0.5831;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|1 0|0 0|1 0|0 1|0 +5 172661690 rs72554031 C T 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14301;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72554031;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0141;AF_popmax=0.0178;AF_male=0.0147;AF_female=0.0135;AF_raw=0.0142;AF_afr=0.0025;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0178;AF_fin=0.0331;AF_asj=0.0241;AF_oth=0.0211;non_topmed_AF_popmax=0.0177;non_neuro_AF_popmax=0.0178;non_cancer_AF_popmax=.;controls_AF_popmax=0.0221;Kaviar_AF=0.0054557;Kaviar_AC=142;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.722202;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172661843 rs150813574 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12682;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.T244A:p.C82S,NKX2-5:NM_001166176:exon1:c.T244A:p.C82S,NKX2-5:NM_004387:exon1:c.T244A:p.C82S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150813574;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.414;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.112;Polyphen2_HDIV_rankscore=0.247;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_rankscore=0.234;Polyphen2_HVAR_pred=B;LRT_score=0.962;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-0.14;PROVEAN_converted_rankscore=0.092;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.244;MetaSVM_score=-0.606;MetaSVM_rankscore=0.646;MetaSVM_pred=T;MetaLR_score=0.402;MetaLR_rankscore=0.753;MetaLR_pred=T;M-CAP_score=0.120;M-CAP_rankscore=0.801;M-CAP_pred=D;REVEL_score=0.226;REVEL_rankscore=0.529;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.130;CADD_raw_rankscore=0.203;CADD_phred=11.38;DANN_score=0.798;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.639;fathmm-MKL_coding_rankscore=0.320;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.610;Eigen-PC-raw=-0.485;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.443;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=0.638;phyloP100way_vertebrate_rankscore=0.242;phyloP20way_mammalian=0.999;phyloP20way_mammalian_rankscore=0.621;phastCons100way_vertebrate=0.677;phastCons100way_vertebrate_rankscore=0.282;phastCons20way_mammalian=0.063;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=0.304;SiPhy_29way_logOdds_rankscore=0.003;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.177e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.083e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.491e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.038e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.950030;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172662024 rs2277923 T C 100 PASS AC=60;AF=0.535743;AN=214;NS=2504;DP=12062;EAS_AF=0.6339;AMR_AF=0.5058;AFR_AF=0.7254;EUR_AF=0.2823;SAS_AF=0.4601;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E;1000g2015aug_all=0.535743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277923;CLNALLELEID=54004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2813;ExAC_nontcga_ALL=0.4112;ExAC_nontcga_AFR=0.6755;ExAC_nontcga_AMR=0.5668;ExAC_nontcga_EAS=0.6345;ExAC_nontcga_FIN=0.4350;ExAC_nontcga_NFE=0.3030;ExAC_nontcga_OTH=0.4079;ExAC_nontcga_SAS=0.4072;AF=0.4323;AF_popmax=0.6538;AF_male=0.4325;AF_female=0.4322;AF_raw=0.4315;AF_afr=0.6538;AF_sas=.;AF_amr=0.5177;AF_eas=0.6396;AF_nfe=0.2933;AF_fin=0.4146;AF_asj=0.2448;AF_oth=0.3692;non_topmed_AF_popmax=0.6531;non_neuro_AF_popmax=0.6492;non_cancer_AF_popmax=.;controls_AF_popmax=0.6583;Kaviar_AF=0.0015847;Kaviar_AC=245;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.951883;ALLELE_END GT 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 +6 7542148 rs17133512 C CA 100 PASS AC=23;AF=0.199681;AN=214;NS=2504;DP=12541;EAS_AF=0.2778;AMR_AF=0.2291;AFR_AF=0.2186;EUR_AF=0.1451;SAS_AF=0.1288;AA=|||unknown(LONG_INSERTION);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSP;GeneDetail.refGene=NM_001319034:c.-1_0insA\x3bNM_004415:c.-1_0insA\x3bNM_001008844:c.-1_0insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17133512;CLNALLELEID=44679;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1456;ExAC_nontcga_ALL=0.2002;ExAC_nontcga_AFR=0.2732;ExAC_nontcga_AMR=0.2820;ExAC_nontcga_EAS=0.3004;ExAC_nontcga_FIN=0.2527;ExAC_nontcga_NFE=0.1680;ExAC_nontcga_OTH=0.1489;ExAC_nontcga_SAS=0.1514;AF=0.1715;AF_popmax=0.2497;AF_male=0.1729;AF_female=0.1698;AF_raw=0.1718;AF_afr=0.2103;AF_sas=.;AF_amr=0.2264;AF_eas=0.2497;AF_nfe=0.1430;AF_fin=0.1629;AF_asj=0.1207;AF_oth=0.1522;non_topmed_AF_popmax=0.2467;non_neuro_AF_popmax=0.2497;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004776|hsa-miR-505-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934522;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 +6 7542236 rs121912998 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=13671;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G88A:p.V30M,DSP:NM_001319034:exon1:c.G88A:p.V30M,DSP:NM_004415:exon1:c.G88A:p.V30M;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121912998;CLNALLELEID=31885;CLNDN=Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.680;LRT_converted_rankscore=0.061;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=A;MutationAssessor_score=-0.695;MutationAssessor_score_rankscore=0.019;MutationAssessor_pred=N;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.732;FATHMM_pred=T;PROVEAN_score=0.4;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.675;VEST3_rankscore=0.690;MetaSVM_score=-1.128;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.122;MetaLR_pred=T;M-CAP_score=0.230;M-CAP_rankscore=0.883;M-CAP_pred=D;REVEL_score=0.387;REVEL_rankscore=0.707;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.115;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.930;DANN_rankscore=0.220;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.024;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.242;Eigen-PC-raw=-2.260;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-7.34;GERP++_RS_rankscore=0.013;phyloP100way_vertebrate=-0.807;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=-1.856;phyloP20way_mammalian_rankscore=0.006;phastCons100way_vertebrate=0.123;phastCons100way_vertebrate_rankscore=0.230;phastCons20way_mammalian=0.164;phastCons20way_mammalian_rankscore=0.209;SiPhy_29way_logOdds=4.332;SiPhy_29way_logOdds_rankscore=0.104;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0057;AF=0.0009;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0008;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934048;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7542253 rs77445784 G A 100 PASS AC=3;AF=0.00339457;AN=214;NS=2504;DP=13696;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G105A:p.G35G,DSP:NM_001319034:exon1:c.G105A:p.G35G,DSP:NM_004415:exon1:c.G105A:p.G35G;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77445784;CLNALLELEID=44680;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0087;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0164;ExAC_nontcga_OTH=0.0091;ExAC_nontcga_SAS=0.0015;AF=0.0033;AF_popmax=0.0050;AF_male=0.0032;AF_female=0.0035;AF_raw=0.0034;AF_afr=0.0020;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0012;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944163;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7542274 rs36087964 T C 100 PASS AC=15;AF=0.0609026;AN=214;NS=2504;DP=13569;EAS_AF=0.0248;AMR_AF=0.0403;AFR_AF=0.1165;EUR_AF=0.0577;SAS_AF=0.0409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.T126C:p.Y42Y,DSP:NM_001319034:exon1:c.T126C:p.Y42Y,DSP:NM_004415:exon1:c.T126C:p.Y42Y;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36087964;CLNALLELEID=54022;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0524;ExAC_nontcga_ALL=0.0975;ExAC_nontcga_AFR=0.1692;ExAC_nontcga_AMR=0.0685;ExAC_nontcga_EAS=0.0364;ExAC_nontcga_FIN=0.1736;ExAC_nontcga_NFE=0.1182;ExAC_nontcga_OTH=0.0978;ExAC_nontcga_SAS=0.0604;AF=0.0643;AF_popmax=0.0973;AF_male=0.0642;AF_female=0.0645;AF_raw=0.0643;AF_afr=0.0973;AF_sas=.;AF_amr=0.0436;AF_eas=0.0179;AF_nfe=0.0535;AF_fin=0.0533;AF_asj=0.0931;AF_oth=0.0634;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.1048;non_cancer_AF_popmax=.;controls_AF_popmax=0.1038;Kaviar_AF=0.0413449;Kaviar_AC=6392;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927953;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +6 7556063 rs56148603 C T 100 PASS AC=6;AF=0.0125799;AN=214;NS=2504;DP=17218;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.0008;EUR_AF=0.0348;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56148603;CLNALLELEID=54046;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0378;ExAC_nontcga_ALL=0.0239;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0194;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0137;ExAC_nontcga_NFE=0.0371;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0093;AF=0.0216;AF_popmax=0.0338;AF_male=0.0208;AF_female=0.0225;AF_raw=0.0215;AF_afr=0.0082;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0338;AF_fin=0.0098;AF_asj=0.0138;AF_oth=0.0230;non_topmed_AF_popmax=0.0339;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.023719;Kaviar_AC=3667;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662519;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7558318 rs10484326 T C 100 PASS AC=59;AF=0.15615;AN=214;NS=2504;DP=22235;EAS_AF=0.0526;AMR_AF=0.1542;AFR_AF=0.1611;EUR_AF=0.2614;SAS_AF=0.1493;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.15615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10484326;CLNALLELEID=140870;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2349;ExAC_nontcga_ALL=0.1924;ExAC_nontcga_AFR=0.1737;ExAC_nontcga_AMR=0.1208;ExAC_nontcga_EAS=0.0427;ExAC_nontcga_FIN=0.2621;ExAC_nontcga_NFE=0.2353;ExAC_nontcga_OTH=0.2277;ExAC_nontcga_SAS=0.1520;AF=0.2040;AF_popmax=0.2280;AF_male=0.2009;AF_female=0.2079;AF_raw=0.2042;AF_afr=0.1641;AF_sas=.;AF_amr=0.1639;AF_eas=0.0494;AF_nfe=0.2280;AF_fin=0.2595;AF_asj=0.3034;AF_oth=0.2325;non_topmed_AF_popmax=0.2198;non_neuro_AF_popmax=0.2292;non_cancer_AF_popmax=.;controls_AF_popmax=0.2099;Kaviar_AF=0.195897;Kaviar_AC=30286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1605381|N/A|FOXA1|PAZAR,OREG1663620|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.908118;ALLELE_END GT 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 +6 7563982 rs544360130 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18454;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.C740T:p.A247V,DSP:NM_001319034:exon6:c.C740T:p.A247V,DSP:NM_004415:exon6:c.C740T:p.A247V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544360130;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.031;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.513;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=-3.1;FATHMM_converted_rankscore=0.927;FATHMM_pred=D;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.557;VEST3_rankscore=0.611;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=0.149;M-CAP_rankscore=0.832;M-CAP_pred=D;REVEL_score=0.531;REVEL_rankscore=0.805;MutPred_score=0.311;MutPred_rankscore=0.285;CADD_raw=2.649;CADD_raw_rankscore=0.380;CADD_phred=20.5;DANN_score=0.989;DANN_rankscore=0.478;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.739;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.304;Eigen-PC-raw=0.287;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.36;GERP++_RS_rankscore=0.765;phyloP100way_vertebrate=5.385;phyloP100way_vertebrate_rankscore=0.658;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.754;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=19.098;SiPhy_29way_logOdds_rankscore=0.932;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831270;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7563983 rs2806234 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18415;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_001319034:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2806234;CLNALLELEID=54119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9981;ExAC_nontcga_ALL=0.9992;ExAC_nontcga_AFR=0.9997;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9994;ExAC_nontcga_NFE=0.9985;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9995;AF_popmax=1;AF_male=0.9994;AF_female=0.9996;AF_raw=0.9995;AF_afr=0.9999;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9992;AF_fin=0.9991;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.964399;Kaviar_AC=149098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831270;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 7564139 rs1358903 C G 100 PASS AC=60;AF=0.345647;AN=214;NS=2504;DP=19707;EAS_AF=0.4683;AMR_AF=0.3501;AFR_AF=0.3752;EUR_AF=0.2753;SAS_AF=0.2485;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.345647;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1358903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3083;AF_popmax=0.4704;AF_male=0.3143;AF_female=0.3007;AF_raw=0.3081;AF_afr=0.3721;AF_sas=.;AF_amr=0.3121;AF_eas=0.4704;AF_nfe=0.2847;AF_fin=0.1995;AF_asj=0.2276;AF_oth=0.2671;non_topmed_AF_popmax=0.4703;non_neuro_AF_popmax=0.4704;non_cancer_AF_popmax=.;controls_AF_popmax=0.4780;Kaviar_AF=0.0593524;Kaviar_AC=9176;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|0 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 +6 7565627 rs201781844 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18423;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.G813T:p.Q271H,DSP:NM_001319034:exon7:c.G813T:p.Q271H,DSP:NM_004415:exon7:c.G813T:p.Q271H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201781844;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=1.895;MutationAssessor_score_rankscore=0.505;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.348;VEST3_rankscore=0.409;MetaSVM_score=-0.070;MetaSVM_rankscore=0.808;MetaSVM_pred=T;MetaLR_score=0.498;MetaLR_rankscore=0.810;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.626;M-CAP_pred=D;REVEL_score=0.363;REVEL_rankscore=0.687;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.456;CADD_raw_rankscore=0.356;CADD_phred=19.18;DANN_score=0.997;DANN_rankscore=0.808;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.519;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.166;Eigen-PC-raw=-0.021;GenoCanyon_score=0.967;GenoCanyon_score_rankscore=0.289;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.61;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=1.038;phyloP100way_vertebrate_rankscore=0.297;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.828;SiPhy_29way_logOdds_rankscore=0.340;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896415;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7565727 rs17604693 A T 100 PASS AC=10;AF=0.0183706;AN=214;NS=2504;DP=18347;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0408;SAS_AF=0.0389;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.A913T:p.I305F,DSP:NM_001319034:exon7:c.A913T:p.I305F,DSP:NM_004415:exon7:c.A913T:p.I305F;1000g2015aug_all=0.0183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17604693;CLNALLELEID=44690;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.869;Polyphen2_HVAR_rankscore=0.600;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.41;MutationAssessor_score_rankscore=0.699;MutationAssessor_pred=M;FATHMM_score=-3.52;FATHMM_converted_rankscore=0.947;FATHMM_pred=D;PROVEAN_score=-2.21;PROVEAN_converted_rankscore=0.496;PROVEAN_pred=N;VEST3_score=0.243;VEST3_rankscore=0.297;MetaSVM_score=0.905;MetaSVM_rankscore=0.958;MetaSVM_pred=D;MetaLR_score=0.860;MetaLR_rankscore=0.953;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.593;REVEL_rankscore=0.840;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.980;CADD_raw_rankscore=0.822;CADD_phred=27.8;DANN_score=0.990;DANN_rankscore=0.498;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.937;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.801;Eigen-PC-raw=0.792;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.71;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0419;ExAC_nontcga_ALL=0.0290;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0227;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0362;AF=0.0247;AF_popmax=0.0389;AF_male=0.0244;AF_female=0.0252;AF_raw=0.0247;AF_afr=0.0059;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0389;AF_fin=0.0199;AF_asj=0.0517;AF_oth=0.0230;non_topmed_AF_popmax=0.0414;non_neuro_AF_popmax=0.0382;non_cancer_AF_popmax=.;controls_AF_popmax=0.0412;Kaviar_AF=0.0303877;Kaviar_AC=4698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907885;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 7565801 rs201872850 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19933;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201872850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.441e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7566745 rs200962599 G GA 100 PASS AC=4;AF=0.0239617;AN=214;NS=2504;DP=16907;EAS_AF=0.0308;AMR_AF=0.0072;AFR_AF=0.0265;EUR_AF=0.0139;SAS_AF=0.0358;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200962599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0299;ExAC_nontcga_ALL=0.1014;ExAC_nontcga_AFR=0.0645;ExAC_nontcga_AMR=0.0796;ExAC_nontcga_EAS=0.0573;ExAC_nontcga_FIN=0.0178;ExAC_nontcga_NFE=0.0776;ExAC_nontcga_OTH=0.1373;ExAC_nontcga_SAS=0.2415;AF=0.0023;AF_popmax=0.0032;AF_male=0.0022;AF_female=0.0025;AF_raw=0.0095;AF_afr=0.0026;AF_sas=.;AF_amr=0.0032;AF_eas=0;AF_nfe=0.0009;AF_fin=0.014;AF_asj=0;AF_oth=0.0040;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.223129;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7567970 rs2076296 C T 100 PASS AC=166;AF=0.772764;AN=214;NS=2504;DP=20658;EAS_AF=0.8006;AMR_AF=0.7896;AFR_AF=0.8222;EUR_AF=0.7644;SAS_AF=0.6738;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.772764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076296;CLNALLELEID=252531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7752;ExAC_nontcga_ALL=0.7554;ExAC_nontcga_AFR=0.8015;ExAC_nontcga_AMR=0.7574;ExAC_nontcga_EAS=0.8160;ExAC_nontcga_FIN=0.7105;ExAC_nontcga_NFE=0.7653;ExAC_nontcga_OTH=0.7486;ExAC_nontcga_SAS=0.6851;AF=0.7653;AF_popmax=0.8160;AF_male=0.7667;AF_female=0.7636;AF_raw=0.7653;AF_afr=0.7975;AF_sas=.;AF_amr=0.7518;AF_eas=0.8160;AF_nfe=0.7559;AF_fin=0.7121;AF_asj=0.8483;AF_oth=0.7279;non_topmed_AF_popmax=0.8146;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8173;Kaviar_AF=0.75272;Kaviar_AC=116372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 +6 7569353 rs148975065 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20335;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148975065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7571874 rs926411 G A 100 PASS AC=167;AF=0.819688;AN=214;NS=2504;DP=19860;EAS_AF=0.8036;AMR_AF=0.7983;AFR_AF=0.9902;EUR_AF=0.7664;SAS_AF=0.6759;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.819688;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs926411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8131;AF_popmax=0.9574;AF_male=0.8156;AF_female=0.8100;AF_raw=0.8129;AF_afr=0.9574;AF_sas=.;AF_amr=0.7665;AF_eas=0.8179;AF_nfe=0.7604;AF_fin=0.7135;AF_asj=0.8552;AF_oth=0.7399;non_topmed_AF_popmax=0.9579;non_neuro_AF_popmax=0.9531;non_cancer_AF_popmax=.;controls_AF_popmax=0.9553;Kaviar_AF=0.150134;Kaviar_AC=23211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.423943;ALLELE_END GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 +6 7572026 rs2076303 T A 100 PASS AC=92;AF=0.508986;AN=214;NS=2504;DP=20143;EAS_AF=0.7589;AMR_AF=0.5735;AFR_AF=0.3812;EUR_AF=0.3946;SAS_AF=0.4959;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.508986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076303;CLNALLELEID=252532;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4183;ExAC_nontcga_ALL=0.4582;ExAC_nontcga_AFR=0.3800;ExAC_nontcga_AMR=0.5838;ExAC_nontcga_EAS=0.7755;ExAC_nontcga_FIN=0.3094;ExAC_nontcga_NFE=0.4082;ExAC_nontcga_OTH=0.4133;ExAC_nontcga_SAS=0.4915;AF=0.4086;AF_popmax=0.7690;AF_male=0.4165;AF_female=0.3986;AF_raw=0.4082;AF_afr=0.3855;AF_sas=.;AF_amr=0.5331;AF_eas=0.7690;AF_nfe=0.4026;AF_fin=0.3131;AF_asj=0.3681;AF_oth=0.3808;non_topmed_AF_popmax=0.7671;non_neuro_AF_popmax=0.7690;non_cancer_AF_popmax=.;controls_AF_popmax=0.7648;Kaviar_AF=0.442459;Kaviar_AC=68405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|1 0|1 1|1 0|0 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|0 1|0 1|1 0|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 +6 7572262 rs2076304 A G 100 PASS AC=167;AF=0.774361;AN=214;NS=2504;DP=18680;EAS_AF=0.8026;AMR_AF=0.7925;AFR_AF=0.823;EUR_AF=0.7664;SAS_AF=0.6748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_001319034:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G;1000g2015aug_all=0.774361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076304;CLNALLELEID=54037;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7795;ExAC_nontcga_ALL=0.7580;ExAC_nontcga_AFR=0.8032;ExAC_nontcga_AMR=0.7605;ExAC_nontcga_EAS=0.8168;ExAC_nontcga_FIN=0.7120;ExAC_nontcga_NFE=0.7690;ExAC_nontcga_OTH=0.7486;ExAC_nontcga_SAS=0.6862;AF=0.7685;AF_popmax=0.8179;AF_male=0.7691;AF_female=0.7677;AF_raw=0.7681;AF_afr=0.7999;AF_sas=.;AF_amr=0.7571;AF_eas=0.8179;AF_nfe=0.76;AF_fin=0.7135;AF_asj=0.8483;AF_oth=0.7297;non_topmed_AF_popmax=0.8160;non_neuro_AF_popmax=0.8179;non_cancer_AF_popmax=.;controls_AF_popmax=0.8199;Kaviar_AF=0.750851;Kaviar_AC=116083;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831281;ALLELE_END GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 +6 7574536 rs7741957 T C 100 PASS AC=4;AF=0.140974;AN=214;NS=2504;DP=19129;EAS_AF=0.2887;AMR_AF=0.1542;AFR_AF=0.1573;EUR_AF=0.0129;SAS_AF=0.089;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.140974;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7741957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0780;ExAC_nontcga_AFR=0.1481;ExAC_nontcga_AMR=0.2158;ExAC_nontcga_EAS=0.3061;ExAC_nontcga_FIN=0.0377;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0541;ExAC_nontcga_SAS=0.0731;AF=0.0685;AF_popmax=0.3017;AF_male=0.0719;AF_female=0.0642;AF_raw=0.0686;AF_afr=0.1378;AF_sas=.;AF_amr=0.1757;AF_eas=0.3017;AF_nfe=0.0083;AF_fin=0.0409;AF_asj=0.0379;AF_oth=0.0469;non_topmed_AF_popmax=0.2993;non_neuro_AF_popmax=0.3017;non_cancer_AF_popmax=.;controls_AF_popmax=0.2871;Kaviar_AF=0.0680586;Kaviar_AC=10522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.085969;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7574852 rs2295859 T C 100 PASS AC=15;AF=0.0638978;AN=214;NS=2504;DP=21371;EAS_AF=0.0813;AMR_AF=0.0533;AFR_AF=0.0794;EUR_AF=0.0557;SAS_AF=0.0409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295859;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0577;ExAC_nontcga_ALL=0.0510;ExAC_nontcga_AFR=0.0715;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0645;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0544;ExAC_nontcga_OTH=0.0663;ExAC_nontcga_SAS=0.0426;AF=0.0571;AF_popmax=0.0760;AF_male=0.0600;AF_female=0.0534;AF_raw=0.0571;AF_afr=0.0760;AF_sas=.;AF_amr=0.0425;AF_eas=0.0686;AF_nfe=0.0532;AF_fin=0.0265;AF_asj=0.0690;AF_oth=0.0496;non_topmed_AF_popmax=0.0762;non_neuro_AF_popmax=0.0765;non_cancer_AF_popmax=.;controls_AF_popmax=0.0719;Kaviar_AF=0.0523991;Kaviar_AC=8101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.336561;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 +6 7576527 rs1016835 G A 100 PASS AC=170;AF=0.735423;AN=214;NS=2504;DP=19016;EAS_AF=0.8056;AMR_AF=0.7882;AFR_AF=0.6082;EUR_AF=0.8012;SAS_AF=0.7301;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_001319034:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R;1000g2015aug_all=0.735423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1016835;CLNALLELEID=54044;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.8024;ExAC_nontcga_ALL=0.7695;ExAC_nontcga_AFR=0.6465;ExAC_nontcga_AMR=0.7706;ExAC_nontcga_EAS=0.8050;ExAC_nontcga_FIN=0.7117;ExAC_nontcga_NFE=0.7990;ExAC_nontcga_OTH=0.7457;ExAC_nontcga_SAS=0.7459;AF=0.7354;AF_popmax=0.7969;AF_male=0.7334;AF_female=0.7379;AF_raw=0.7346;AF_afr=0.6378;AF_sas=.;AF_amr=0.7759;AF_eas=0.7969;AF_nfe=0.7828;AF_fin=0.7186;AF_asj=0.8414;AF_oth=0.75;non_topmed_AF_popmax=0.7945;non_neuro_AF_popmax=0.7969;non_cancer_AF_popmax=.;controls_AF_popmax=0.7860;Kaviar_AF=0.76891;Kaviar_AC=118875;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670850;ALLELE_END GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7577260 rs2064217 C T 100 PASS AC=50;AF=0.27516;AN=214;NS=2504;DP=18325;EAS_AF=0.1915;AMR_AF=0.2363;AFR_AF=0.4039;EUR_AF=0.2266;SAS_AF=0.2648;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon20:c.C2862T:p.C954C,DSP:NM_001319034:exon20:c.C2862T:p.C954C,DSP:NM_004415:exon20:c.C2862T:p.C954C;1000g2015aug_all=0.27516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2064217;CLNALLELEID=54053;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2159;ExAC_nontcga_ALL=0.2439;ExAC_nontcga_AFR=0.3716;ExAC_nontcga_AMR=0.2571;ExAC_nontcga_EAS=0.1944;ExAC_nontcga_FIN=0.2513;ExAC_nontcga_NFE=0.2189;ExAC_nontcga_OTH=0.2849;ExAC_nontcga_SAS=0.2660;AF=0.2732;AF_popmax=0.3770;AF_male=0.2759;AF_female=0.2699;AF_raw=0.2731;AF_afr=0.3770;AF_sas=.;AF_amr=0.2376;AF_eas=0.2018;AF_nfe=0.2310;AF_fin=0.2510;AF_asj=0.2138;AF_oth=0.2587;non_topmed_AF_popmax=0.3763;non_neuro_AF_popmax=0.3742;non_cancer_AF_popmax=.;controls_AF_popmax=0.3801;Kaviar_AF=0.238263;Kaviar_AC=36836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.933623;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|1 1|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +6 7577354 rs2064218 C A 100 PASS AC=141;AF=0.69389;AN=214;NS=2504;DP=18712;EAS_AF=0.5556;AMR_AF=0.6542;AFR_AF=0.8661;EUR_AF=0.6412;SAS_AF=0.6861;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.69389;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2064218;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6708;AF_popmax=0.8259;AF_male=0.6705;AF_female=0.6712;AF_raw=0.6702;AF_afr=0.8259;AF_sas=.;AF_amr=0.6647;AF_eas=0.5627;AF_nfe=0.6020;AF_fin=0.6465;AF_asj=0.7207;AF_oth=0.6245;non_topmed_AF_popmax=0.8256;non_neuro_AF_popmax=0.8240;non_cancer_AF_popmax=.;controls_AF_popmax=0.8309;Kaviar_AF=0.123064;Kaviar_AC=19026;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.351438;ALLELE_END GT 1|0 1|1 0|0 1|0 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 0|0 1|0 1|0 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 0|0 0|1 +6 7578189 rs6942260 G A 100 PASS AC=62;AF=0.279353;AN=214;NS=2504;DP=19083;EAS_AF=0.4415;AMR_AF=0.3271;AFR_AF=0.1051;EUR_AF=0.2952;SAS_AF=0.2975;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6942260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2601;AF_popmax=0.4379;AF_male=0.2629;AF_female=0.2566;AF_raw=0.2604;AF_afr=0.1381;AF_sas=.;AF_amr=0.3208;AF_eas=0.4379;AF_nfe=0.3079;AF_fin=0.2507;AF_asj=0.2604;AF_oth=0.2895;non_topmed_AF_popmax=0.4370;non_neuro_AF_popmax=0.4379;non_cancer_AF_popmax=.;controls_AF_popmax=0.4382;Kaviar_AF=0.296219;Kaviar_AC=7710;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.980652;ALLELE_END GT 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 1|0 +6 7578819 rs2806229 T G 100 PASS AC=170;AF=0.740016;AN=214;NS=2504;DP=17898;EAS_AF=0.8036;AMR_AF=0.7925;AFR_AF=0.6248;EUR_AF=0.8002;SAS_AF=0.7311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.740016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2806229;CLNALLELEID=252533;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8023;ExAC_nontcga_ALL=0.7709;ExAC_nontcga_AFR=0.6587;ExAC_nontcga_AMR=0.7707;ExAC_nontcga_EAS=0.8039;ExAC_nontcga_FIN=0.7137;ExAC_nontcga_NFE=0.7987;ExAC_nontcga_OTH=0.7464;ExAC_nontcga_SAS=0.7492;AF=0.7364;AF_popmax=0.7964;AF_male=0.7350;AF_female=0.7382;AF_raw=0.7370;AF_afr=0.6472;AF_sas=.;AF_amr=0.7728;AF_eas=0.7964;AF_nfe=0.7803;AF_fin=0.7189;AF_asj=0.8345;AF_oth=0.7444;non_topmed_AF_popmax=0.7939;non_neuro_AF_popmax=0.7964;non_cancer_AF_popmax=.;controls_AF_popmax=0.7848;Kaviar_AF=0.75261;Kaviar_AC=116355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.050066;ALLELE_END GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7578823 rs2842691 G A 100 PASS AC=170;AF=0.764377;AN=214;NS=2504;DP=17853;EAS_AF=0.8036;AMR_AF=0.7954;AFR_AF=0.7156;EUR_AF=0.8002;SAS_AF=0.7311;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.764377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2842691;CLNALLELEID=252534;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8030;ExAC_nontcga_ALL=0.7775;ExAC_nontcga_AFR=0.7319;ExAC_nontcga_AMR=0.7737;ExAC_nontcga_EAS=0.8041;ExAC_nontcga_FIN=0.7112;ExAC_nontcga_NFE=0.7991;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7492;AF=0.7587;AF_popmax=0.7974;AF_male=0.7578;AF_female=0.7597;AF_raw=0.7585;AF_afr=0.7237;AF_sas=.;AF_amr=0.7776;AF_eas=0.7974;AF_nfe=0.7818;AF_fin=0.7186;AF_asj=0.8414;AF_oth=0.7481;non_topmed_AF_popmax=0.7949;non_neuro_AF_popmax=0.7974;non_cancer_AF_popmax=.;controls_AF_popmax=0.7848;Kaviar_AF=0.004573;Kaviar_AC=707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.850793;ALLELE_END GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7579705 rs2491080 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19119;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon23:c.G3282C:p.K1094N,DSP:NM_001319034:exon23:c.G3282C:p.K1094N,DSP:NM_004415:exon23:c.G3282C:p.K1094N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2491080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.478;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.965;MutationTaster_converted_rankscore=0.384;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-3.47;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.264;VEST3_rankscore=0.321;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.147;M-CAP_rankscore=0.830;M-CAP_pred=D;REVEL_score=0.419;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.683;CADD_raw_rankscore=0.775;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.732;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.083;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.437;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=2.434;phyloP100way_vertebrate_rankscore=0.442;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.426;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.930087;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon23:c.G3282C:p.K1094N,DSP:NM_001319034:exon23:c.G3282C:p.K1094N,DSP:NM_004415:exon23:c.G3282C:p.K1094N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2491080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.478;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.965;MutationTaster_converted_rankscore=0.384;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-3.47;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.264;VEST3_rankscore=0.321;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.147;M-CAP_rankscore=0.830;M-CAP_pred=D;REVEL_score=0.419;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.683;CADD_raw_rankscore=0.775;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.732;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.083;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.437;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=2.434;phyloP100way_vertebrate_rankscore=0.442;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.426;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.930087;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580285 rs138907450 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19092;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.A3862C:p.K1288Q,DSP:NM_004415:exon23:c.A3862C:p.K1288Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138907450;CLNALLELEID=173855;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.09;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_rankscore=0.759;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.452;LRT_pred=N;MutationTaster_score=0.651;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-2.9;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-2.32;PROVEAN_converted_rankscore=0.514;PROVEAN_pred=N;VEST3_score=0.447;VEST3_rankscore=0.501;MetaSVM_score=0.167;MetaSVM_rankscore=0.853;MetaSVM_pred=D;MetaLR_score=0.668;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.196;M-CAP_rankscore=0.865;M-CAP_pred=D;REVEL_score=0.801;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.765;CADD_raw_rankscore=0.167;CADD_phred=9.247;DANN_score=0.989;DANN_rankscore=0.472;fathmm-MKL_coding_score=0.845;fathmm-MKL_coding_rankscore=0.433;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.213;Eigen-PC-raw=0.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.97;GERP++_RS_rankscore=0.451;phyloP100way_vertebrate=1.649;phyloP100way_vertebrate_rankscore=0.367;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.641;SiPhy_29way_logOdds_rankscore=0.503;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=9.561e-05;AF_popmax=6.486e-05;AF_male=0.0001;AF_female=7.192e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952498;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +6 7580346 rs184154918 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18099;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.G3923C:p.R1308P,DSP:NM_004415:exon23:c.G3923C:p.R1308P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184154918;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.929;Polyphen2_HDIV_rankscore=0.497;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.519;Polyphen2_HVAR_rankscore=0.463;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.209;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-3.01;FATHMM_converted_rankscore=0.922;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.7;VEST3_rankscore=0.704;MetaSVM_score=-0.046;MetaSVM_rankscore=0.813;MetaSVM_pred=T;MetaLR_score=0.595;MetaLR_rankscore=0.856;MetaLR_pred=D;M-CAP_score=0.099;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.400;REVEL_rankscore=0.717;MutPred_score=0.147;MutPred_rankscore=0.051;CADD_raw=4.219;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.986;DANN_rankscore=0.433;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.532;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.183;Eigen-PC-raw=0.145;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=3.361;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.871;phastCons100way_vertebrate_rankscore=0.306;phastCons20way_mammalian=0.119;phastCons20way_mammalian_rankscore=0.196;SiPhy_29way_logOdds=12.965;SiPhy_29way_logOdds_rankscore=0.577;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.89e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910344;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580386 rs61731476 G A 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=19364;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.G3963A:p.Q1321Q,DSP:NM_004415:exon23:c.G3963A:p.Q1321Q;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731476;CLNALLELEID=54064;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0138;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0199;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0085;AF=0.0120;AF_popmax=0.0168;AF_male=0.0104;AF_female=0.0140;AF_raw=0.0120;AF_afr=0.0031;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0181;AF_asj=0.0069;AF_oth=0.0157;non_topmed_AF_popmax=0.0174;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0135186;Kaviar_AC=2090;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.955118;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580935 rs140993677 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22169;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C4512T:p.N1504N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140993677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.435e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855564;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580958 rs2076299 A G 100 PASS AC=8;AF=0.203275;AN=214;NS=2504;DP=21936;EAS_AF=0.2867;AMR_AF=0.1772;AFR_AF=0.3139;EUR_AF=0.0358;SAS_AF=0.1585;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.A4535G:p.Y1512C;1000g2015aug_all=0.203275;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076299;CLNALLELEID=54082;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.179;SIFT_converted_rankscore=0.220;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_rankscore=0.343;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_rankscore=0.368;Polyphen2_HVAR_pred=B;LRT_score=0.132;LRT_converted_rankscore=0.186;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.700;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.189;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.188;MetaSVM_score=-1.089;MetaSVM_rankscore=0.056;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.283;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.104;REVEL_rankscore=0.301;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.670;CADD_raw_rankscore=0.158;CADD_phred=8.631;DANN_score=0.921;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.582;fathmm-MKL_coding_rankscore=0.303;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.549;Eigen-PC-raw=-0.540;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.8;GERP++_RS_rankscore=0.240;phyloP100way_vertebrate=0.852;phyloP100way_vertebrate_rankscore=0.272;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.157;phastCons100way_vertebrate_rankscore=0.235;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=5.571;SiPhy_29way_logOdds_rankscore=0.164;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0442;ExAC_nontcga_ALL=0.1206;ExAC_nontcga_AFR=0.2983;ExAC_nontcga_AMR=0.2250;ExAC_nontcga_EAS=0.2974;ExAC_nontcga_FIN=0.0625;ExAC_nontcga_NFE=0.0457;ExAC_nontcga_OTH=0.0922;ExAC_nontcga_SAS=0.1397;AF=0.1285;AF_popmax=0.2910;AF_male=0.1297;AF_female=0.1270;AF_raw=0.1289;AF_afr=0.2863;AF_sas=.;AF_amr=0.1969;AF_eas=0.2910;AF_nfe=0.0386;AF_fin=0.0647;AF_asj=0.0621;AF_oth=0.0790;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2910;non_cancer_AF_popmax=.;controls_AF_popmax=0.2859;Kaviar_AF=0.109785;Kaviar_AC=16973;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.927395;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7581001 rs28763966 C A 100 PASS AC=1;AF=0.0511182;AN=214;NS=2504;DP=21331;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1876;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C4578A:p.N1526K;1000g2015aug_all=0.0511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763966;CLNALLELEID=54086;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.66;SIFT_converted_rankscore=0.047;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=0.07;PROVEAN_converted_rankscore=0.061;PROVEAN_pred=N;VEST3_score=0.008;VEST3_rankscore=0.000;MetaSVM_score=-1.086;MetaSVM_rankscore=0.061;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.262;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.527;CADD_raw_rankscore=0.054;CADD_phred=0.188;DANN_score=0.645;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.757;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.716;Eigen-PC-raw=-0.635;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.99;GERP++_RS_rankscore=0.335;phyloP100way_vertebrate=1.282;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.676;phastCons20way_mammalian_rankscore=0.304;SiPhy_29way_logOdds=8.148;SiPhy_29way_logOdds_rankscore=0.301;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0136;ExAC_nontcga_AFR=0.1503;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0447;AF_popmax=0.1581;AF_male=0.0459;AF_female=0.0433;AF_raw=0.0448;AF_afr=0.1581;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1541;non_cancer_AF_popmax=.;controls_AF_popmax=0.1569;Kaviar_AF=0.0130723;Kaviar_AC=2021;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1685201|N/A|GATA3|PAZAR,OREG1663621|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.907499;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 7581196 rs28763968 G A 100 PASS AC=2;AF=0.0071885;AN=214;NS=2504;DP=18613;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G4773A:p.R1591R;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763968;CLNALLELEID=44685;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0198;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0017;AF=0.0131;AF_popmax=0.0200;AF_male=0.0127;AF_female=0.0136;AF_raw=0.0131;AF_afr=0.0029;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0184;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.013635;Kaviar_AC=2108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942304;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 7581636 rs6929069 G A 100 PASS AC=33;AF=0.240415;AN=214;NS=2504;DP=17459;EAS_AF=0.1944;AMR_AF=0.1859;AFR_AF=0.379;EUR_AF=0.1352;SAS_AF=0.2474;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5213A:p.R1738Q;1000g2015aug_all=0.240415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6929069;CLNALLELEID=54092;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.352;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.2;MutationAssessor_score_rankscore=0.092;MutationAssessor_pred=N;FATHMM_score=-0.62;FATHMM_converted_rankscore=0.719;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_converted_rankscore=0.305;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=-1.093;MetaSVM_rankscore=0.051;MetaSVM_pred=T;MetaLR_score=0.076;MetaLR_rankscore=0.304;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.066;REVEL_rankscore=0.196;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.509;CADD_raw_rankscore=0.143;CADD_phred=7.501;DANN_score=0.985;DANN_rankscore=0.414;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.783;Eigen-PC-raw=-0.709;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.24;GERP++_RS_rankscore=0.361;phyloP100way_vertebrate=0.629;phyloP100way_vertebrate_rankscore=0.241;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.217;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.272;phastCons20way_mammalian_rankscore=0.232;SiPhy_29way_logOdds=9.217;SiPhy_29way_logOdds_rankscore=0.363;Interpro_domain=.;GTEx_V6p_gene=ENSG00000168566.11;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1257;ExAC_nontcga_ALL=0.1753;ExAC_nontcga_AFR=0.3255;ExAC_nontcga_AMR=0.2148;ExAC_nontcga_EAS=0.1930;ExAC_nontcga_FIN=0.1763;ExAC_nontcga_NFE=0.1221;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.2319;AF=0.1971;AF_popmax=0.3367;AF_male=0.2012;AF_female=0.1919;AF_raw=0.1972;AF_afr=0.3367;AF_sas=.;AF_amr=0.1981;AF_eas=0.2008;AF_nfe=0.1256;AF_fin=0.1765;AF_asj=0.1414;AF_oth=0.1719;non_topmed_AF_popmax=0.3365;non_neuro_AF_popmax=0.3310;non_cancer_AF_popmax=.;controls_AF_popmax=0.3352;Kaviar_AF=0.167656;Kaviar_AC=25920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1308513|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.874629;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +6 7581641 rs142885240 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17292;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5218A:p.E1740K;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142885240;CLNALLELEID=54093;CLNDN=Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0002076,MedGen:C3887485,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.962;Polyphen2_HDIV_rankscore=0.536;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_rankscore=0.338;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=-0.85;FATHMM_converted_rankscore=0.744;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_converted_rankscore=0.381;PROVEAN_pred=N;VEST3_score=0.729;VEST3_rankscore=0.728;MetaSVM_score=-0.875;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.140;MetaLR_rankscore=0.460;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.550;M-CAP_pred=D;REVEL_score=0.307;REVEL_rankscore=0.632;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.993;CADD_raw_rankscore=0.189;CADD_phred=10.62;DANN_score=0.998;DANN_rankscore=0.869;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.591;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=-0.072;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=3.213;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.156;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=17.082;SiPhy_29way_logOdds_rankscore=0.864;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0007;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0012872;Kaviar_AC=199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1308513|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.893308;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7582993 rs78652302 A T 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=17003;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A3701T:p.E1234V,DSP:NM_001319034:exon24:c.A4169T:p.E1390V,DSP:NM_004415:exon24:c.A5498T:p.E1833V;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78652302;CLNALLELEID=54096;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.436;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_converted_rankscore=0.699;PROVEAN_pred=D;VEST3_score=0.259;VEST3_rankscore=0.592;MetaSVM_score=-0.724;MetaSVM_rankscore=0.593;MetaSVM_pred=T;MetaLR_score=0.256;MetaLR_rankscore=0.627;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.311;CADD_raw_rankscore=0.872;CADD_phred=29.2;DANN_score=0.995;DANN_rankscore=0.665;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.784;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.645;Eigen-PC-raw=0.648;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.2;GERP++_RS_rankscore=0.716;phyloP100way_vertebrate=7.452;phyloP100way_vertebrate_rankscore=0.796;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.091;SiPhy_29way_logOdds_rankscore=0.717;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0004;AF=0.0111;AF_popmax=0.0148;AF_male=0.0103;AF_female=0.0121;AF_raw=0.0111;AF_afr=0.0021;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0148;AF_fin=0.0253;AF_asj=0.0069;AF_oth=0.0101;non_topmed_AF_popmax=0.0162;non_neuro_AF_popmax=0.0146;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.955679;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 7583885 rs28763969 T C 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=19703;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0119;SAS_AF=0.0123;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.T4593C:p.A1531A,DSP:NM_001319034:exon24:c.T5061C:p.A1687A,DSP:NM_004415:exon24:c.T6390C:p.A2130A;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763969;CLNALLELEID=54105;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0140;AF=0.0079;AF_popmax=0.0126;AF_male=0.0085;AF_female=0.0072;AF_raw=0.0079;AF_afr=0.0031;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0040;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0102909;Kaviar_AC=1591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934046;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7583946 rs181608152 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19168;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C4654T:p.R1552W,DSP:NM_001319034:exon24:c.C5122T:p.R1708W,DSP:NM_004415:exon24:c.C6451T:p.R2151W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181608152;CLNALLELEID=521849;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma;CLNDISDB=MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.76;MutationAssessor_score_rankscore=0.809;MutationAssessor_pred=M;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-6.32;PROVEAN_converted_rankscore=0.911;PROVEAN_pred=D;VEST3_score=0.89;VEST3_rankscore=0.932;MetaSVM_score=0.506;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.646;MetaLR_rankscore=0.876;MetaLR_pred=D;M-CAP_score=0.316;M-CAP_rankscore=0.914;M-CAP_pred=D;REVEL_score=0.837;REVEL_rankscore=0.950;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.649;CADD_raw_rankscore=0.912;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.694;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.656;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.727;phastCons20way_mammalian_rankscore=0.316;SiPhy_29way_logOdds=15.707;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.436e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.19e-05;AF_popmax=.;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.943048;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7584617 rs2076300 C T 100 PASS AC=83;AF=0.211661;AN=214;NS=2504;DP=21083;EAS_AF=0.0744;AMR_AF=0.2421;AFR_AF=0.1369;EUR_AF=0.3797;SAS_AF=0.2597;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_001319034:exon24:c.C5793T:p.T1931T,DSP:NM_004415:exon24:c.C7122T:p.T2374T;1000g2015aug_all=0.211661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076300;CLNALLELEID=54114;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3690;ExAC_nontcga_ALL=0.2825;ExAC_nontcga_AFR=0.1650;ExAC_nontcga_AMR=0.1780;ExAC_nontcga_EAS=0.0662;ExAC_nontcga_FIN=0.3304;ExAC_nontcga_NFE=0.3558;ExAC_nontcga_OTH=0.3040;ExAC_nontcga_SAS=0.2592;AF=0.2684;AF_popmax=0.3326;AF_male=0.2641;AF_female=0.2739;AF_raw=0.2687;AF_afr=0.1628;AF_sas=.;AF_amr=0.2217;AF_eas=0.0669;AF_nfe=0.3326;AF_fin=0.3296;AF_asj=0.4448;AF_oth=0.2860;non_topmed_AF_popmax=0.3280;non_neuro_AF_popmax=0.3317;non_cancer_AF_popmax=.;controls_AF_popmax=0.3155;Kaviar_AF=0.289957;Kaviar_AC=44828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934879;ALLELE_END GT 1|0 1|1 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|1 1|1 1|0 0|1 1|1 1|0 1|0 0|0 0|0 +6 7584876 rs201863784 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21814;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5584T:p.L1862F,DSP:NM_001319034:exon24:c.C6052T:p.L2018F,DSP:NM_004415:exon24:c.C7381T:p.L2461F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201863784;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-3.23;FATHMM_converted_rankscore=0.934;FATHMM_pred=D;PROVEAN_score=-1.78;PROVEAN_converted_rankscore=0.514;PROVEAN_pred=N;VEST3_score=0.535;VEST3_rankscore=0.592;MetaSVM_score=0.049;MetaSVM_rankscore=0.832;MetaSVM_pred=D;MetaLR_score=0.736;MetaLR_rankscore=0.910;MetaLR_pred=D;M-CAP_score=0.139;M-CAP_rankscore=0.823;M-CAP_pred=D;REVEL_score=0.647;REVEL_rankscore=0.868;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.363;CADD_raw_rankscore=0.726;CADD_phred=25.9;DANN_score=0.998;DANN_rankscore=0.893;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_rankscore=0.497;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.451;Eigen-PC-raw=0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=4.149;phyloP100way_vertebrate_rankscore=0.576;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.088;SiPhy_29way_logOdds_rankscore=0.471;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.423e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.943321;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7585670 rs11558731 C A 100 PASS AC=9;AF=0.0239617;AN=214;NS=2504;DP=17024;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0023;EUR_AF=0.0706;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C6378A:p.R2126R,DSP:NM_001319034:exon24:c.C6846A:p.R2282R,DSP:NM_004415:exon24:c.C8175A:p.R2725R;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558731;CLNALLELEID=54128;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0633;ExAC_nontcga_ALL=0.0447;ExAC_nontcga_AFR=0.0097;ExAC_nontcga_AMR=0.0286;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0438;ExAC_nontcga_NFE=0.0680;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0188;AF=0.0415;AF_popmax=0.0611;AF_male=0.0432;AF_female=0.0395;AF_raw=0.0416;AF_afr=0.0108;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0611;AF_fin=0.0443;AF_asj=0.0938;AF_oth=0.0487;non_topmed_AF_popmax=0.0592;non_neuro_AF_popmax=0.0614;non_cancer_AF_popmax=.;controls_AF_popmax=0.0516;Kaviar_AF=0.0466618;Kaviar_AC=7214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0600254|N/A|ELF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.921658;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 7585967 rs2744380 G C 100 PASS AC=153;AF=0.709465;AN=214;NS=2504;DP=14877;EAS_AF=0.8046;AMR_AF=0.7478;AFR_AF=0.6051;EUR_AF=0.7127;SAS_AF=0.7219;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G;1000g2015aug_all=0.709465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2744380;CLNALLELEID=54134;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7173;ExAC_nontcga_ALL=0.7123;ExAC_nontcga_AFR=0.6416;ExAC_nontcga_AMR=0.7336;ExAC_nontcga_EAS=0.8070;ExAC_nontcga_FIN=0.6397;ExAC_nontcga_NFE=0.7106;ExAC_nontcga_OTH=0.6715;ExAC_nontcga_SAS=0.7270;AF=0.6721;AF_popmax=0.7974;AF_male=0.6729;AF_female=0.6711;AF_raw=0.6713;AF_afr=0.6303;AF_sas=.;AF_amr=0.7482;AF_eas=0.7974;AF_nfe=0.6834;AF_fin=0.6459;AF_asj=0.7759;AF_oth=0.6636;non_topmed_AF_popmax=0.7950;non_neuro_AF_popmax=0.7974;non_cancer_AF_popmax=.;controls_AF_popmax=0.7860;Kaviar_AF=0.139468;Kaviar_AC=21562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911143;ALLELE_END GT 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7586120 rs11558732 T A 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=17113;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DSP;GeneDetail.refGene=NM_001319034:c.*9T>A\x3bNM_004415:c.*9T>A\x3bNM_001008844:c.*9T>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558732;CLNALLELEID=54017;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0029;AF=0.0054;AF_popmax=0.0071;AF_male=0.0050;AF_female=0.0059;AF_raw=0.0054;AF_afr=0.0015;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0075;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0071;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0055821;Kaviar_AC=863;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000451|hsa-miR-150-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702399;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26087649 rs138378000 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12196;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138378000;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=5.747e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000786464|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253332|N/A|SMARCA4|PAZAR,OREG1491899|N/A|EGR1|PAZAR,OREG1798393|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.351223;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26087856 rs2858993 T A 100 PASS AC=71;AF=0.39377;AN=214;NS=2504;DP=12512;EAS_AF=0.7143;AMR_AF=0.4524;AFR_AF=0.1309;EUR_AF=0.3976;SAS_AF=0.3732;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.39377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2858993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3658;AF_popmax=0.7121;AF_male=0.3661;AF_female=0.3654;AF_raw=0.3661;AF_afr=0.1818;AF_sas=.;AF_amr=0.4480;AF_eas=0.7121;AF_nfe=0.4142;AF_fin=0.4224;AF_asj=0.3345;AF_oth=0.4191;non_topmed_AF_popmax=0.7101;non_neuro_AF_popmax=0.7121;non_cancer_AF_popmax=.;controls_AF_popmax=0.7155;Kaviar_AF=0.397994;Kaviar_AC=10359;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.412879::-0.276992;Heart_Left_Ventricle=Heart_Left_Ventricle::0.400735::-0.23077;ENSEMBLReg=Name\x3dENSR00000786464|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491899|N/A|EGR1|PAZAR,OREG1253332|N/A|SMARCA4|PAZAR,OREG1798393|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.260303;ALLELE_END GT 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|0 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|1 0|0 +6 26091047 rs142921463 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20950;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142921463;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0002;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.355485;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091179 rs1799945 C G 100 PASS AC=38;AF=0.0730831;AN=214;NS=2504;DP=20637;EAS_AF=0.0288;AMR_AF=0.1153;AFR_AF=0.0113;EUR_AF=0.172;SAS_AF=0.0706;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;1000g2015aug_all=0.0730831;GWAS=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;ORegAnno_REGULATORY_P=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;avsnp150=rs1799945;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.142;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.161;Polyphen2_HVAR_rankscore=0.609;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_converted_rankscore=0.139;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-2.42;FATHMM_converted_rankscore=0.886;FATHMM_pred=D;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.569;VEST3_rankscore=0.641;MetaSVM_score=0.103;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_rankscore=0.871;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.315;REVEL_rankscore=0.641;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.570;CADD_raw_rankscore=0.612;CADD_phred=24.4;DANN_score=0.985;DANN_rankscore=0.418;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.214;Eigen-PC-raw=-0.258;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=1.868;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.744;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=6.685;SiPhy_29way_logOdds_rankscore=0.222;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000124564.13|ENSG00000010704.14|ENSG00000010704.14|ENSG00000272462.2|ENSG00000180573.8|ENSG00000181315.6|ENSG00000010704.14|ENSG00000010704.14;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1024;ExAC_nontcga_AFR=0.0271;ExAC_nontcga_AMR=0.0949;ExAC_nontcga_EAS=0.0341;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1334;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0781;AF=0.0995;AF_popmax=0.1452;AF_male=0.0968;AF_female=0.1029;AF_raw=0.0996;AF_afr=0.0270;AF_sas=.;AF_amr=0.0969;AF_eas=0.0270;AF_nfe=0.1452;AF_fin=0.1022;AF_asj=0.1069;AF_oth=0.1273;non_topmed_AF_popmax=0.1422;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738438;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;1000g2015aug_all=0.0730831;GWAS=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;ORegAnno_REGULATORY_P=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;avsnp150=rs1799945;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.142;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.161;Polyphen2_HVAR_rankscore=0.609;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_converted_rankscore=0.139;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-2.42;FATHMM_converted_rankscore=0.886;FATHMM_pred=D;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.569;VEST3_rankscore=0.641;MetaSVM_score=0.103;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_rankscore=0.871;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.315;REVEL_rankscore=0.641;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.570;CADD_raw_rankscore=0.612;CADD_phred=24.4;DANN_score=0.985;DANN_rankscore=0.418;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.214;Eigen-PC-raw=-0.258;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=1.868;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.744;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=6.685;SiPhy_29way_logOdds_rankscore=0.222;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000124564.13|ENSG00000010704.14|ENSG00000010704.14|ENSG00000272462.2|ENSG00000180573.8|ENSG00000181315.6|ENSG00000010704.14|ENSG00000010704.14;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1024;ExAC_nontcga_AFR=0.0271;ExAC_nontcga_AMR=0.0949;ExAC_nontcga_EAS=0.0341;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1334;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0781;AF=0.0995;AF_popmax=0.1452;AF_male=0.0968;AF_female=0.1029;AF_raw=0.0996;AF_afr=0.0270;AF_sas=.;AF_amr=0.0969;AF_eas=0.0270;AF_nfe=0.1452;AF_fin=0.1022;AF_asj=0.1069;AF_oth=0.1273;non_topmed_AF_popmax=0.1422;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738438;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 +6 26091185 rs1800730 A T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=20230;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800730;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_converted_rankscore=0.174;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-2.7;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.627;VEST3_rankscore=0.657;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_rankscore=0.930;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.972;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.992;DANN_rankscore=0.547;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_rankscore=0.348;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.551;Eigen-PC-raw=0.473;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.347;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=4.13;GERP++_RS_rankscore=0.475;phyloP100way_vertebrate=5.096;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.645;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0010;AF=0.0101;AF_popmax=0.0137;AF_male=0.0104;AF_female=0.0097;AF_raw=0.0101;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0137;AF_fin=0.0193;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765894;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800730;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_converted_rankscore=0.174;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-2.7;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.627;VEST3_rankscore=0.657;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_rankscore=0.930;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.972;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.992;DANN_rankscore=0.547;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_rankscore=0.348;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.551;Eigen-PC-raw=0.473;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.347;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=4.13;GERP++_RS_rankscore=0.475;phyloP100way_vertebrate=5.096;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.645;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0010;AF=0.0101;AF_popmax=0.0137;AF_male=0.0104;AF_female=0.0097;AF_raw=0.0101;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0137;AF_fin=0.0193;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765894;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091309 rs199988202 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20952;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.T317C:p.M106T,HFE:NM_001300749:exon2:c.T317C:p.M106T,HFE:NM_139003:exon2:c.T317C:p.M106T,HFE:NM_139004:exon2:c.T317C:p.M106T,HFE:NM_139006:exon2:c.T317C:p.M106T,HFE:NM_139009:exon2:c.T248C:p.M83T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199988202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.064;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.041;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_score_rankscore=0.765;MutationAssessor_pred=M;FATHMM_score=-2.53;FATHMM_converted_rankscore=0.894;FATHMM_pred=D;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.700;MetaSVM_score=0.651;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.123;M-CAP_rankscore=0.805;M-CAP_pred=D;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.831;CADD_raw_rankscore=0.517;CADD_phred=23.4;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.788;fathmm-MKL_coding_rankscore=0.386;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.596;Eigen-PC-raw=0.547;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.391;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=0.564;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.837;SiPhy_29way_logOdds_rankscore=0.457;Interpro_domain=MHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757263;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.T317C:p.M106T,HFE:NM_001300749:exon2:c.T317C:p.M106T,HFE:NM_139003:exon2:c.T317C:p.M106T,HFE:NM_139004:exon2:c.T317C:p.M106T,HFE:NM_139006:exon2:c.T317C:p.M106T,HFE:NM_139009:exon2:c.T248C:p.M83T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199988202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.064;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.041;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_score_rankscore=0.765;MutationAssessor_pred=M;FATHMM_score=-2.53;FATHMM_converted_rankscore=0.894;FATHMM_pred=D;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.700;MetaSVM_score=0.651;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.123;M-CAP_rankscore=0.805;M-CAP_pred=D;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.831;CADD_raw_rankscore=0.517;CADD_phred=23.4;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.788;fathmm-MKL_coding_rankscore=0.386;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.596;Eigen-PC-raw=0.547;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.391;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=0.564;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.837;SiPhy_29way_logOdds_rankscore=0.457;Interpro_domain=MHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757263;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091336 rs2071303 T C 100 PASS AC=75;AF=0.426717;AN=214;NS=2504;DP=21412;EAS_AF=0.629;AMR_AF=0.4222;AFR_AF=0.379;EUR_AF=0.3658;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.426717;GWAS=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;ORegAnno_REGULATORY_P=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;avsnp150=rs2071303;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.3356;ExAC_nontcga_ALL=0.3705;ExAC_nontcga_AFR=0.3736;ExAC_nontcga_AMR=0.4139;ExAC_nontcga_EAS=0.6873;ExAC_nontcga_FIN=0.3539;ExAC_nontcga_NFE=0.3174;ExAC_nontcga_OTH=0.3804;ExAC_nontcga_SAS=0.3696;AF=0.3619;AF_popmax=0.6569;AF_male=0.3656;AF_female=0.3573;AF_raw=0.3625;AF_afr=0.3732;AF_sas=.;AF_amr=0.4155;AF_eas=0.6569;AF_nfe=0.3210;AF_fin=0.3716;AF_asj=0.3448;AF_oth=0.3656;non_topmed_AF_popmax=0.6556;non_neuro_AF_popmax=0.6569;non_cancer_AF_popmax=.;controls_AF_popmax=0.6560;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.669660;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.426717;GWAS=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;ORegAnno_REGULATORY_P=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;avsnp150=rs2071303;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.3356;ExAC_nontcga_ALL=0.3705;ExAC_nontcga_AFR=0.3736;ExAC_nontcga_AMR=0.4139;ExAC_nontcga_EAS=0.6873;ExAC_nontcga_FIN=0.3539;ExAC_nontcga_NFE=0.3174;ExAC_nontcga_OTH=0.3804;ExAC_nontcga_SAS=0.3696;AF=0.3619;AF_popmax=0.6569;AF_male=0.3656;AF_female=0.3573;AF_raw=0.3625;AF_afr=0.3732;AF_sas=.;AF_amr=0.4155;AF_eas=0.6569;AF_nfe=0.3210;AF_fin=0.3716;AF_asj=0.3448;AF_oth=0.3656;non_topmed_AF_popmax=0.6556;non_neuro_AF_popmax=0.6569;non_cancer_AF_popmax=.;controls_AF_popmax=0.6560;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.669660;ALLELE_END GT 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 0|1 0|1 +6 26092865 rs807209 C G 100 PASS AC=1;AF=0.0425319;AN=214;NS=2504;DP=22002;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.1483;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs807209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.1309;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0038;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0005;AF=0.0377;AF_popmax=0.1314;AF_male=0.0367;AF_female=0.0391;AF_raw=0.0378;AF_afr=0.1314;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0013;AF_fin=0;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.1317;non_neuro_AF_popmax=0.1291;non_cancer_AF_popmax=.;controls_AF_popmax=0.1275;Kaviar_AF=0.0127359;Kaviar_AC=1969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.349569;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093125 rs140080192 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=19787;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140080192;CLNALLELEID=302313;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.353;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=2.52;FATHMM_converted_rankscore=0.142;FATHMM_pred=T;PROVEAN_score=-2.72;PROVEAN_converted_rankscore=0.727;PROVEAN_pred=D;VEST3_score=0.505;VEST3_rankscore=0.549;MetaSVM_score=-1.148;MetaSVM_rankscore=0.011;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.303;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.419;fathmm-MKL_coding_rankscore=0.265;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=0.963;phyloP100way_vertebrate_rankscore=0.287;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0247;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712262;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140080192;CLNALLELEID=302313;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.353;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=2.52;FATHMM_converted_rankscore=0.142;FATHMM_pred=T;PROVEAN_score=-2.72;PROVEAN_converted_rankscore=0.727;PROVEAN_pred=D;VEST3_score=0.505;VEST3_rankscore=0.549;MetaSVM_score=-1.148;MetaSVM_rankscore=0.011;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.303;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.419;fathmm-MKL_coding_rankscore=0.265;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=0.963;phyloP100way_vertebrate_rankscore=0.287;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0247;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712262;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093141 rs1800562 G A 100 PASS AC=6;AF=0.0125799;AN=214;NS=2504;DP=19430;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0023;EUR_AF=0.0427;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;1000g2015aug_all=0.0125799;GWAS=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;ORegAnno_REGULATORY_P=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;avsnp150=rs1800562;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=4.395;MutationAssessor_score_rankscore=0.987;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=-8.93;PROVEAN_converted_rankscore=0.991;PROVEAN_pred=D;VEST3_score=0.989;VEST3_rankscore=0.996;MetaSVM_score=1.073;MetaSVM_rankscore=0.987;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.872;REVEL_rankscore=0.962;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.270;CADD_raw_rankscore=0.712;CADD_phred=25.7;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.877;Eigen-PC-raw=0.745;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=5.226;phyloP100way_vertebrate_rankscore=0.649;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.895;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold|Immunoglobulin/major_histocompatibility_complex,_conserved_site\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0098;ExAC_nontcga_AMR=0.0113;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0322;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0022;AF=0.0383;AF_popmax=0.0595;AF_male=0.0373;AF_female=0.0394;AF_raw=0.0383;AF_afr=0.0099;AF_sas=.;AF_amr=0.0297;AF_eas=0.0006;AF_nfe=0.0595;AF_fin=0.0357;AF_asj=0.0207;AF_oth=0.0377;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0604;non_cancer_AF_popmax=.;controls_AF_popmax=0.0472;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.419245;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809052;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;1000g2015aug_all=0.0125799;GWAS=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;ORegAnno_REGULATORY_P=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;avsnp150=rs1800562;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=4.395;MutationAssessor_score_rankscore=0.987;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=-8.93;PROVEAN_converted_rankscore=0.991;PROVEAN_pred=D;VEST3_score=0.989;VEST3_rankscore=0.996;MetaSVM_score=1.073;MetaSVM_rankscore=0.987;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.872;REVEL_rankscore=0.962;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.270;CADD_raw_rankscore=0.712;CADD_phred=25.7;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.877;Eigen-PC-raw=0.745;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=5.226;phyloP100way_vertebrate_rankscore=0.649;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.895;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold|Immunoglobulin/major_histocompatibility_complex,_conserved_site\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0098;ExAC_nontcga_AMR=0.0113;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0322;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0022;AF=0.0383;AF_popmax=0.0595;AF_male=0.0373;AF_female=0.0394;AF_raw=0.0383;AF_afr=0.0099;AF_sas=.;AF_amr=0.0297;AF_eas=0.0006;AF_nfe=0.0595;AF_fin=0.0357;AF_asj=0.0207;AF_oth=0.0377;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0604;non_cancer_AF_popmax=.;controls_AF_popmax=0.0472;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.419245;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809052;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093236 rs1800758 G A 100 PASS AC=16;AF=0.13139;AN=214;NS=2504;DP=19244;EAS_AF=0.0665;AMR_AF=0.1354;AFR_AF=0.1513;EUR_AF=0.0994;SAS_AF=0.2014;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.13139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800758;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1291;ExAC_nontcga_ALL=0.1342;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1198;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.1288;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.2118;AF=0.1248;AF_popmax=0.1439;AF_male=0.1252;AF_female=0.1242;AF_raw=0.1248;AF_afr=0.1439;AF_sas=.;AF_amr=0.1244;AF_eas=0.05;AF_nfe=0.1255;AF_fin=0.1025;AF_asj=0.1910;AF_oth=0.1236;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1507;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.119702;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.13139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800758;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1291;ExAC_nontcga_ALL=0.1342;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1198;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.1288;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.2118;AF=0.1248;AF_popmax=0.1439;AF_male=0.1252;AF_female=0.1242;AF_raw=0.1248;AF_afr=0.1439;AF_sas=.;AF_amr=0.1244;AF_eas=0.05;AF_nfe=0.1255;AF_fin=0.1025;AF_asj=0.1910;AF_oth=0.1236;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1507;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.119702;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 +6 26093297 rs2794717 G A 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=19369;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2794717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0004;AF=0.0090;AF_popmax=0.0110;AF_male=0.0090;AF_female=0.0090;AF_raw=0.0090;AF_afr=0.0023;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0224;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0110;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.006727;Kaviar_AC=1040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.191714;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093303 rs1800708 T C 100 PASS AC=13;AF=0.21865;AN=214;NS=2504;DP=19610;EAS_AF=0.5506;AMR_AF=0.2133;AFR_AF=0.0764;EUR_AF=0.0865;SAS_AF=0.2086;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.21865;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0628;ExAC_nontcga_ALL=0.1546;ExAC_nontcga_AFR=0.0908;ExAC_nontcga_AMR=0.2483;ExAC_nontcga_EAS=0.5782;ExAC_nontcga_FIN=0.1998;ExAC_nontcga_NFE=0.0694;ExAC_nontcga_OTH=0.1643;ExAC_nontcga_SAS=0.1878;AF=0.1198;AF_popmax=0.5522;AF_male=0.1223;AF_female=0.1166;AF_raw=0.1199;AF_afr=0.0944;AF_sas=.;AF_amr=0.2193;AF_eas=0.5522;AF_nfe=0.0653;AF_fin=0.2055;AF_asj=0.0724;AF_oth=0.1388;non_topmed_AF_popmax=0.5501;non_neuro_AF_popmax=0.5522;non_cancer_AF_popmax=.;controls_AF_popmax=0.5495;Kaviar_AF=0.137831;Kaviar_AC=21309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.397956;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26094346 rs571478148 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20911;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571478148;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.229116;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26094367 rs1572982 G A 100 PASS AC=91;AF=0.590655;AN=214;NS=2504;DP=20151;EAS_AF=0.6954;AMR_AF=0.5793;AFR_AF=0.6377;EUR_AF=0.4722;SAS_AF=0.5491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.590655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1572982;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4708;ExAC_nontcga_ALL=0.5162;ExAC_nontcga_AFR=0.6149;ExAC_nontcga_AMR=0.5421;ExAC_nontcga_EAS=0.7278;ExAC_nontcga_FIN=0.4500;ExAC_nontcga_NFE=0.4518;ExAC_nontcga_OTH=0.5331;ExAC_nontcga_SAS=0.5817;AF=0.5168;AF_popmax=0.7053;AF_male=0.5229;AF_female=0.5092;AF_raw=0.5166;AF_afr=0.6101;AF_sas=.;AF_amr=0.5579;AF_eas=0.7053;AF_nfe=0.4531;AF_fin=0.4752;AF_asj=0.5451;AF_oth=0.4972;non_topmed_AF_popmax=0.7051;non_neuro_AF_popmax=0.7053;non_cancer_AF_popmax=.;controls_AF_popmax=0.7035;Kaviar_AF=0.504263;Kaviar_AC=77960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.797290;ALLELE_END GT 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 1|1 0|1 +6 26094515 rs62625349 C T 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=20692;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0325;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=HFE;GeneDetail.refGene=NM_139008:c.*61C>T\x3bNM_139007:c.*61C>T\x3bNM_139006:c.*61C>T\x3bNM_139004:c.*61C>T\x3bNM_139003:c.*61C>T\x3bNM_000410:c.*61C>T\x3bNM_139011:c.*61C>T\x3bNM_139010:c.*61C>T\x3bNM_139009:c.*61C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62625349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0077;AF_popmax=0.0266;AF_male=0.0074;AF_female=0.0080;AF_raw=0.0077;AF_afr=0.0266;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0227;non_cancer_AF_popmax=.;controls_AF_popmax=0.0249;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76538403 rs1280052 G A 100 PASS AC=110;AF=0.687899;AN=214;NS=2504;DP=18301;EAS_AF=0.7708;AMR_AF=0.6931;AFR_AF=0.7935;EUR_AF=0.5219;SAS_AF=0.6268;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.687899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1280052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6091;AF_popmax=0.7644;AF_male=0.6085;AF_female=0.6097;AF_raw=0.6085;AF_afr=0.7494;AF_sas=.;AF_amr=0.6981;AF_eas=0.7644;AF_nfe=0.5244;AF_fin=0.5631;AF_asj=0.5660;AF_oth=0.5507;non_topmed_AF_popmax=0.7638;non_neuro_AF_popmax=0.7644;non_cancer_AF_popmax=.;controls_AF_popmax=0.7565;Kaviar_AF=0.111072;Kaviar_AC=17172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 0|1 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 0|0 1|0 0|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|0 +6 76540088 rs200967297 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14543;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200967297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.185e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76545684 rs12210963 T C 100 PASS AC=33;AF=0.102636;AN=214;NS=2504;DP=17008;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1104;EUR_AF=0.165;SAS_AF=0.0941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12210963;CLNALLELEID=54331;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1521;ExAC_nontcga_ALL=0.1197;ExAC_nontcga_AFR=0.1121;ExAC_nontcga_AMR=0.0726;ExAC_nontcga_EAS=0.0277;ExAC_nontcga_FIN=0.1285;ExAC_nontcga_NFE=0.1494;ExAC_nontcga_OTH=0.1652;ExAC_nontcga_SAS=0.0971;AF=0.1315;AF_popmax=0.1481;AF_male=0.1328;AF_female=0.1299;AF_raw=0.1315;AF_afr=0.1183;AF_sas=.;AF_amr=0.0825;AF_eas=0.0289;AF_nfe=0.1481;AF_fin=0.1427;AF_asj=0.1285;AF_oth=0.1507;non_topmed_AF_popmax=0.1457;non_neuro_AF_popmax=0.1468;non_cancer_AF_popmax=.;controls_AF_popmax=0.1403;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.846450;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76550237 rs12216518 A G 100 PASS AC=33;AF=0.102835;AN=214;NS=2504;DP=17301;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1112;EUR_AF=0.165;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12216518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1314;AF_popmax=0.1476;AF_male=0.1327;AF_female=0.1297;AF_raw=0.1315;AF_afr=0.1187;AF_sas=.;AF_amr=0.0825;AF_eas=0.0288;AF_nfe=0.1476;AF_fin=0.1428;AF_asj=0.1276;AF_oth=0.1519;non_topmed_AF_popmax=0.1453;non_neuro_AF_popmax=0.1463;non_cancer_AF_popmax=.;controls_AF_popmax=0.1401;Kaviar_AF=0.0248897;Kaviar_AC=3848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76554593 rs7760587 G A 100 PASS AC=209;AF=0.997804;AN=214;NS=2504;DP=14370;EAS_AF=1;AMR_AF=0.9986;AFR_AF=1;EUR_AF=0.9901;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7760587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9868;ExAC_nontcga_ALL=0.9910;ExAC_nontcga_AFR=0.9972;ExAC_nontcga_AMR=0.9962;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9940;ExAC_nontcga_NFE=0.9845;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9996;AF=0.9924;AF_popmax=1;AF_male=0.9920;AF_female=0.9930;AF_raw=0.9924;AF_afr=0.9987;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9875;AF_fin=0.9934;AF_asj=1;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.069541;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 76558200 rs199798449 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon11:c.G1030A:p.V344I,MYO6:NM_004999:exon11:c.G1030A:p.V344I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199798449;CLNALLELEID=54299;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.158;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=-0.16;FATHMM_converted_rankscore=0.654;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_converted_rankscore=0.212;PROVEAN_pred=N;VEST3_score=0.585;VEST3_rankscore=0.614;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.198;MetaLR_rankscore=0.554;MetaLR_pred=T;M-CAP_score=0.031;M-CAP_rankscore=0.534;M-CAP_pred=D;REVEL_score=0.241;REVEL_rankscore=0.551;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.506;CADD_raw_rankscore=0.479;CADD_phred=23.1;DANN_score=0.999;DANN_rankscore=0.953;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.497;Eigen-PC-raw=0.561;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.644;integrated_fitCons_score_rankscore=0.439;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=9.571;phyloP100way_vertebrate_rankscore=0.973;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.969;phastCons20way_mammalian_rankscore=0.458;SiPhy_29way_logOdds=19.119;SiPhy_29way_logOdds_rankscore=0.933;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0004;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0046;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.377391;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76558260 rs144408691 A AT 100 PASS AC=7;AF=0.139577;AN=214;NS=2504;DP=15587;EAS_AF=0.3065;AMR_AF=0.0764;AFR_AF=0.1203;EUR_AF=0.0686;SAS_AF=0.1115;AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144408691;CLNALLELEID=252536;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0583;ExAC_nontcga_ALL=0.0911;ExAC_nontcga_AFR=0.1240;ExAC_nontcga_AMR=0.0769;ExAC_nontcga_EAS=0.2928;ExAC_nontcga_FIN=0.0769;ExAC_nontcga_NFE=0.0587;ExAC_nontcga_OTH=0.0641;ExAC_nontcga_SAS=0.1011;AF=0.0929;AF_popmax=0.3048;AF_male=0.0936;AF_female=0.0920;AF_raw=0.0931;AF_afr=0.1239;AF_sas=.;AF_amr=0.0629;AF_eas=0.3048;AF_nfe=0.0577;AF_fin=0.0913;AF_asj=0.0517;AF_oth=0.0803;non_topmed_AF_popmax=0.3032;non_neuro_AF_popmax=0.3048;non_cancer_AF_popmax=.;controls_AF_popmax=0.3084;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.410949;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76564953 rs2273857 A G 100 PASS AC=2;AF=0.0265575;AN=214;NS=2504;DP=16743;EAS_AF=0.1071;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon12:c.A1176G:p.T392T,MYO6:NM_004999:exon12:c.A1176G:p.T392T;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2273857;CLNALLELEID=54301;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.1027;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0089;ExAC_nontcga_SAS=0.0044;AF=0.0155;AF_popmax=0.1065;AF_male=0.0157;AF_female=0.0152;AF_raw=0.0155;AF_afr=0.0034;AF_sas=.;AF_amr=0.0071;AF_eas=0.1065;AF_nfe=0.0147;AF_fin=0.0109;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.1059;non_neuro_AF_popmax=0.1065;non_cancer_AF_popmax=.;controls_AF_popmax=0.0974;Kaviar_AF=0.0164552;Kaviar_AC=2544;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000796121|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559899;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76566810 rs144031818 A G 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17510;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144031818;CLNALLELEID=54303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.109e-05;AF=0.0021;AF_popmax=0.0038;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0038;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76572240 rs543048460 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17283;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543048460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76572389 rs201670695 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16877;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon16:c.A1623G:p.Q541Q,MYO6:NM_004999:exon16:c.A1623G:p.Q541Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201670695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.270533;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76576290 rs11756446 C T 100 PASS AC=14;AF=0.0289537;AN=214;NS=2504;DP=17803;EAS_AF=0.0129;AMR_AF=0.0331;AFR_AF=0.0023;EUR_AF=0.0577;SAS_AF=0.0491;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon17:c.C1722T:p.D574D,MYO6:NM_004999:exon17:c.C1722T:p.D574D;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11756446;CLNALLELEID=54307;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0609;ExAC_nontcga_ALL=0.0516;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0258;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0646;ExAC_nontcga_NFE=0.0627;ExAC_nontcga_OTH=0.0648;ExAC_nontcga_SAS=0.0668;AF=0.0421;AF_popmax=0.0593;AF_male=0.0418;AF_female=0.0424;AF_raw=0.0421;AF_afr=0.0085;AF_sas=.;AF_amr=0.0318;AF_eas=0.0122;AF_nfe=0.0593;AF_fin=0.0645;AF_asj=0.0448;AF_oth=0.0452;non_topmed_AF_popmax=0.0596;non_neuro_AF_popmax=0.0596;non_cancer_AF_popmax=.;controls_AF_popmax=0.0608;Kaviar_AF=0.0509178;Kaviar_AC=7872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.138922;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76595634 rs13211391 C A 100 PASS AC=33;AF=0.1252;AN=214;NS=2504;DP=16535;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1952;EUR_AF=0.166;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13211391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1515;AF_popmax=0.1899;AF_male=0.1535;AF_female=0.1491;AF_raw=0.1515;AF_afr=0.1899;AF_sas=.;AF_amr=0.0875;AF_eas=0.0288;AF_nfe=0.1481;AF_fin=0.1424;AF_asj=0.1276;AF_oth=0.1547;non_topmed_AF_popmax=0.1898;non_neuro_AF_popmax=0.1865;non_cancer_AF_popmax=.;controls_AF_popmax=0.1919;Kaviar_AF=0.0258664;Kaviar_AC=3999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.128717;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76596728 rs2295936 C T 100 PASS AC=71;AF=0.147764;AN=214;NS=2504;DP=16631;EAS_AF=0.0516;AMR_AF=0.1816;AFR_AF=0.0091;EUR_AF=0.2992;SAS_AF=0.2546;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295936;CLNALLELEID=54314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3349;ExAC_nontcga_ALL=0.2453;ExAC_nontcga_AFR=0.0514;ExAC_nontcga_AMR=0.1392;ExAC_nontcga_EAS=0.0519;ExAC_nontcga_FIN=0.2478;ExAC_nontcga_NFE=0.3198;ExAC_nontcga_OTH=0.2601;ExAC_nontcga_SAS=0.2667;AF=0.2206;AF_popmax=0.3233;AF_male=0.2194;AF_female=0.2223;AF_raw=0.2204;AF_afr=0.0568;AF_sas=.;AF_amr=0.1853;AF_eas=0.06;AF_nfe=0.3233;AF_fin=0.2342;AF_asj=0.3034;AF_oth=0.2694;non_topmed_AF_popmax=0.3204;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3024;Kaviar_AF=0.251691;Kaviar_AC=38912;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.307985::-0.165475;Heart_Left_Ventricle=Heart_Left_Ventricle::0.288603::0.201427;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 76599787 rs146682372 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16236;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon26:c.C2672T:p.T891M,MYO6:NM_004999:exon26:c.C2672T:p.T891M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146682372;CLNALLELEID=308798;CLNDN=Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.899;Polyphen2_HVAR_rankscore=0.620;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.349;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=2.645;MutationAssessor_score_rankscore=0.776;MutationAssessor_pred=M;FATHMM_score=2.15;FATHMM_converted_rankscore=0.892;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.473;VEST3_rankscore=0.589;MetaSVM_score=0.419;MetaSVM_rankscore=0.894;MetaSVM_pred=D;MetaLR_score=0.718;MetaLR_rankscore=0.903;MetaLR_pred=D;M-CAP_score=0.054;M-CAP_rankscore=0.657;M-CAP_pred=D;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.313;CADD_raw_rankscore=0.457;CADD_phred=22.9;DANN_score=0.998;DANN_rankscore=0.923;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.639;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.477;Eigen-PC-raw=0.474;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=3.883;phyloP100way_vertebrate_rankscore=0.556;phyloP20way_mammalian=0.888;phyloP20way_mammalian_rankscore=0.391;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.718;phastCons20way_mammalian_rankscore=0.314;SiPhy_29way_logOdds=20.143;SiPhy_29way_logOdds_rankscore=0.981;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.956e-05;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.689e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0013;AF_male=0.0002;AF_female=7.311e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.077154;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76607983 rs720862 T A 100 PASS AC=84;AF=0.348842;AN=214;NS=2504;DP=13441;EAS_AF=0.3938;AMR_AF=0.5418;AFR_AF=0.1551;EUR_AF=0.3827;SAS_AF=0.3926;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348842;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs720862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3389;AF_popmax=0.5704;AF_male=0.3348;AF_female=0.3441;AF_raw=0.3390;AF_afr=0.1854;AF_sas=.;AF_amr=0.5704;AF_eas=0.375;AF_nfe=0.3908;AF_fin=0.4008;AF_asj=0.4479;AF_oth=0.3810;non_topmed_AF_popmax=0.575;non_neuro_AF_popmax=0.5474;non_cancer_AF_popmax=.;controls_AF_popmax=0.5410;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.355263::-0.152423;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 1|1 1|0 0|1 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|0 +6 76608251 rs56298506 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17491;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56298506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0013;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0013;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.332260;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76617511 rs141652215 A ATGTGTGTG 100 PASS AC=53;AF=0.138778;AN=214;NS=2504;DP=18129;EAS_AF=0.0665;AMR_AF=0.1412;AFR_AF=0.0809;EUR_AF=0.2117;SAS_AF=0.2147;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.138778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141652215;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2391;AF_popmax=0.3128;AF_male=0.2384;AF_female=0.2399;AF_raw=0.2367;AF_afr=0.1435;AF_sas=.;AF_amr=0.1970;AF_eas=0.0777;AF_nfe=0.3128;AF_fin=0.2248;AF_asj=0.3022;AF_oth=0.2620;non_topmed_AF_popmax=0.3087;non_neuro_AF_popmax=0.3122;non_cancer_AF_popmax=.;controls_AF_popmax=0.2940;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1603746|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 76618299 rs189411232 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon30:c.A3298G:p.N1100D,MYO6:NM_004999:exon32:c.A3367G:p.N1123D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189411232;CLNALLELEID=229526;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-2.44;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.277;VEST3_rankscore=0.460;MetaSVM_score=-0.019;MetaSVM_rankscore=0.819;MetaSVM_pred=T;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.283;REVEL_rankscore=0.605;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.66;DANN_score=0.990;DANN_rankscore=0.489;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.717;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.231;Eigen-PC-raw=0.385;GenoCanyon_score=0.881;GenoCanyon_score_rankscore=0.256;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=7.123;phyloP100way_vertebrate_rankscore=0.766;phyloP20way_mammalian=1.136;phyloP20way_mammalian_rankscore=0.884;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.470;SiPhy_29way_logOdds_rankscore=0.839;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.482e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.097e-05;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.596500;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76624538 rs41269323 G A 100 PASS AC=5;AF=0.00559105;AN=214;NS=2504;DP=20451;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon33:c.G3598A:p.D1200N,MYO6:NM_004999:exon35:c.G3667A:p.D1223N;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41269323;CLNALLELEID=54326;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.65;MutationAssessor_score_rankscore=0.778;MutationAssessor_pred=M;FATHMM_score=-2.86;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-4.45;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.048;VEST3_rankscore=0.044;MetaSVM_score=0.838;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.863;MetaLR_rankscore=0.954;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.615;REVEL_rankscore=0.852;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.271;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.998;DANN_rankscore=0.870;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.903;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.949;Eigen-PC-raw=0.947;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=9.571;phyloP100way_vertebrate_rankscore=0.973;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.947;phastCons20way_mammalian_rankscore=0.422;SiPhy_29way_logOdds=20.644;SiPhy_29way_logOdds_rankscore=0.996;Interpro_domain=Myosin_VI,_cargo_binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0145;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0072;AF=0.0069;AF_popmax=0.0094;AF_male=0.0061;AF_female=0.0080;AF_raw=0.0069;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0091;AF_fin=0.0101;AF_asj=0.0345;AF_oth=0.0092;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0094953;Kaviar_AC=1468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.624047;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76624741 rs12606 C T 100 PASS AC=71;AF=0.146965;AN=214;NS=2504;DP=18316;EAS_AF=0.0516;AMR_AF=0.1816;AFR_AF=0.0091;EUR_AF=0.2992;SAS_AF=0.2505;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYO6;GeneDetail.refGene=NM_001300899:c.*12C>T\x3bNM_004999:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.146965;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12606;CLNALLELEID=54297;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3343;ExAC_nontcga_ALL=0.2838;ExAC_nontcga_AFR=0.0642;ExAC_nontcga_AMR=0.1843;ExAC_nontcga_EAS=0.0663;ExAC_nontcga_FIN=0.2889;ExAC_nontcga_NFE=0.3597;ExAC_nontcga_OTH=0.3107;ExAC_nontcga_SAS=0.2857;AF=0.2199;AF_popmax=0.3223;AF_male=0.2186;AF_female=0.2215;AF_raw=0.2201;AF_afr=0.0564;AF_sas=.;AF_amr=0.1865;AF_eas=0.0596;AF_nfe=0.3223;AF_fin=0.2334;AF_asj=0.3034;AF_oth=0.2694;non_topmed_AF_popmax=0.3197;non_neuro_AF_popmax=0.3205;non_cancer_AF_popmax=.;controls_AF_popmax=0.3025;Kaviar_AF=0.249841;Kaviar_AC=38626;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.308712::-0.168664;Heart_Left_Ventricle=Heart_Left_Ventricle::0.288603::0.201427;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000430|hsa-miR-138-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.069782;ALLELE_END GT 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 112430850 rs111530471 C T 100 PASS AC=2;AF=0.0463259;AN=214;NS=2504;DP=20618;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.1672;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111530471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0036;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0016;AF_afr=0.0036;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0017;Kaviar_AF=0.0107192;Kaviar_AC=279;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001114943|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.554391;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112435264 rs3734290 T G 100 PASS AC=55;AF=0.240016;AN=214;NS=2504;DP=17817;EAS_AF=0.3472;AMR_AF=0.2205;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1442;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734290;CLNALLELEID=53572;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2706;ExAC_nontcga_ALL=0.2352;ExAC_nontcga_AFR=0.2363;ExAC_nontcga_AMR=0.1763;ExAC_nontcga_EAS=0.3233;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2671;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.1403;AF=0.2497;AF_popmax=0.3307;AF_male=0.2525;AF_female=0.2462;AF_raw=0.2514;AF_afr=0.2381;AF_sas=.;AF_amr=0.1899;AF_eas=0.3307;AF_nfe=0.2617;AF_fin=0.2045;AF_asj=0.3;AF_oth=0.2352;non_topmed_AF_popmax=0.3289;non_neuro_AF_popmax=0.3307;non_cancer_AF_popmax=.;controls_AF_popmax=0.3330;Kaviar_AF=0.241316;Kaviar_AC=37308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.367788;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435273 rs3734289 A C 100 PASS AC=55;AF=0.240016;AN=214;NS=2504;DP=17637;EAS_AF=0.3472;AMR_AF=0.2205;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1442;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734289;CLNALLELEID=53573;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=0.2716;ExAC_nontcga_ALL=0.2351;ExAC_nontcga_AFR=0.2359;ExAC_nontcga_AMR=0.1764;ExAC_nontcga_EAS=0.3233;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2671;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.1403;AF=0.2497;AF_popmax=0.3305;AF_male=0.2524;AF_female=0.2464;AF_raw=0.2514;AF_afr=0.2380;AF_sas=.;AF_amr=0.1899;AF_eas=0.3305;AF_nfe=0.2620;AF_fin=0.2047;AF_asj=0.3;AF_oth=0.2333;non_topmed_AF_popmax=0.3287;non_neuro_AF_popmax=0.3305;non_cancer_AF_popmax=.;controls_AF_popmax=0.3326;Kaviar_AF=0.241323;Kaviar_AC=37309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277984;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435335 rs200177134 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon38:c.C5270T:p.P1757L,LAMA4:NM_001105207:exon38:c.C5249T:p.P1750L,LAMA4:NM_002290:exon38:c.C5249T:p.P1750L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200177134;CLNALLELEID=53571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.855;MutationAssessor_score_rankscore=0.493;MutationAssessor_pred=L;FATHMM_score=-1.39;FATHMM_converted_rankscore=0.804;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_converted_rankscore=0.897;PROVEAN_pred=D;VEST3_score=0.833;VEST3_rankscore=0.821;MetaSVM_score=0.157;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.591;MetaLR_rankscore=0.854;MetaLR_pred=D;M-CAP_score=0.064;M-CAP_rankscore=0.694;M-CAP_pred=D;REVEL_score=0.659;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.024;CADD_raw_rankscore=0.938;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.957;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.628;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.847;Eigen-PC-raw=0.864;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.632;integrated_fitCons_score_rankscore=0.406;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=8.692;phyloP100way_vertebrate_rankscore=0.909;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.324;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.978e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.359547;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112435444 rs111835795 G GAAT 100 PASS AC=55;AF=0.240815;AN=214;NS=2504;DP=18307;EAS_AF=0.3472;AMR_AF=0.2219;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1472;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111835795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2699;ExAC_nontcga_ALL=0.2341;ExAC_nontcga_AFR=0.2350;ExAC_nontcga_AMR=0.1758;ExAC_nontcga_EAS=0.3204;ExAC_nontcga_FIN=0.2030;ExAC_nontcga_NFE=0.2655;ExAC_nontcga_OTH=0.2038;ExAC_nontcga_SAS=0.1422;AF=0.2511;AF_popmax=0.3346;AF_male=0.2536;AF_female=0.2480;AF_raw=0.2517;AF_afr=0.2379;AF_sas=.;AF_amr=0.1910;AF_eas=0.3346;AF_nfe=0.2639;AF_fin=0.2045;AF_asj=0.3034;AF_oth=0.2381;non_topmed_AF_popmax=0.3320;non_neuro_AF_popmax=0.3346;non_cancer_AF_popmax=.;controls_AF_popmax=0.3374;Kaviar_AF=0.0071603;Kaviar_AC=1107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.804649;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435796 rs6917142 G C 100 PASS AC=56;AF=0.240815;AN=214;NS=2504;DP=17959;EAS_AF=0.3462;AMR_AF=0.2219;AFR_AF=0.2383;EUR_AF=0.2445;SAS_AF=0.1452;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6917142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2545;AF_popmax=0.3415;AF_male=0.2569;AF_female=0.2516;AF_raw=0.2544;AF_afr=0.2408;AF_sas=.;AF_amr=0.1934;AF_eas=0.3415;AF_nfe=0.2680;AF_fin=0.2051;AF_asj=0.3103;AF_oth=0.2408;non_topmed_AF_popmax=0.3382;non_neuro_AF_popmax=0.3415;non_cancer_AF_popmax=.;controls_AF_popmax=0.3447;Kaviar_AF=0.0498441;Kaviar_AC=7706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435807 rs11969913 G T 100 PASS AC=56;AF=0.227236;AN=214;NS=2504;DP=17875;EAS_AF=0.3502;AMR_AF=0.2161;AFR_AF=0.1868;EUR_AF=0.2445;SAS_AF=0.1452;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.227236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11969913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2428;AF_popmax=0.3463;AF_male=0.2450;AF_female=0.2401;AF_raw=0.2428;AF_afr=0.1983;AF_sas=.;AF_amr=0.1910;AF_eas=0.3463;AF_nfe=0.2680;AF_fin=0.2051;AF_asj=0.3103;AF_oth=0.2385;non_topmed_AF_popmax=0.3430;non_neuro_AF_popmax=0.3463;non_cancer_AF_popmax=.;controls_AF_popmax=0.3444;Kaviar_AF=0.0493525;Kaviar_AC=7630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.406150;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435912 rs1050353 A T 100 PASS AC=59;AF=0.281749;AN=214;NS=2504;DP=17779;EAS_AF=0.3571;AMR_AF=0.2392;AFR_AF=0.3419;EUR_AF=0.2634;SAS_AF=0.1718;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon37:c.T5160A:p.V1720V,LAMA4:NM_001105207:exon37:c.T5139A:p.V1713V,LAMA4:NM_002290:exon37:c.T5139A:p.V1713V;1000g2015aug_all=0.281749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050353;CLNALLELEID=53568;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2894;ExAC_nontcga_ALL=0.2637;ExAC_nontcga_AFR=0.3344;ExAC_nontcga_AMR=0.1903;ExAC_nontcga_EAS=0.3369;ExAC_nontcga_FIN=0.2310;ExAC_nontcga_NFE=0.2908;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.1643;AF=0.2942;AF_popmax=0.3488;AF_male=0.2972;AF_female=0.2904;AF_raw=0.2941;AF_afr=0.3397;AF_sas=.;AF_amr=0.2182;AF_eas=0.3488;AF_nfe=0.2854;AF_fin=0.2215;AF_asj=0.3345;AF_oth=0.2578;non_topmed_AF_popmax=0.3457;non_neuro_AF_popmax=0.3488;non_cancer_AF_popmax=.;controls_AF_popmax=0.3480;Kaviar_AF=0.268043;Kaviar_AC=41440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.275632;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112438912 rs3216857 GA G 100 PASS AC=31;AF=0.229233;AN=214;NS=2504;DP=22488;EAS_AF=0.3919;AMR_AF=0.2709;AFR_AF=0.0393;EUR_AF=0.1869;SAS_AF=0.3323;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1688;ExAC_nontcga_ALL=0.2340;ExAC_nontcga_AFR=0.0633;ExAC_nontcga_AMR=0.3430;ExAC_nontcga_EAS=0.3782;ExAC_nontcga_FIN=0.3480;ExAC_nontcga_NFE=0.1778;ExAC_nontcga_OTH=0.2853;ExAC_nontcga_SAS=0.3232;AF=0.1903;AF_popmax=0.3578;AF_male=0.1849;AF_female=0.1971;AF_raw=0.1906;AF_afr=0.0600;AF_sas=.;AF_amr=0.2700;AF_eas=0.3578;AF_nfe=0.2038;AF_fin=0.3445;AF_asj=0.1862;AF_oth=0.2491;non_topmed_AF_popmax=0.3595;non_neuro_AF_popmax=0.3578;non_cancer_AF_popmax=.;controls_AF_popmax=0.3662;Kaviar_AF=0.0059055;Kaviar_AC=913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0743312|N/A|JUNB|JASPAR,OREG0770517|N/A|JUND|JASPAR,OREG0642785|N/A|FOS|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.088779;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112439071 rs397516733 G C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18417;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon35:c.C4852G:p.L1618V,LAMA4:NM_001105207:exon35:c.C4831G:p.L1611V,LAMA4:NM_002290:exon35:c.C4831G:p.L1611V;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516733;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.569;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.408;MutationTaster_pred=D;MutationAssessor_score=1.48;MutationAssessor_score_rankscore=0.373;MutationAssessor_pred=L;FATHMM_score=1.93;FATHMM_converted_rankscore=0.229;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.593;VEST3_rankscore=0.822;MetaSVM_score=-1.134;MetaSVM_rankscore=0.016;MetaSVM_pred=T;MetaLR_score=0.079;MetaLR_rankscore=0.314;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.247;M-CAP_pred=T;REVEL_score=0.240;REVEL_rankscore=0.549;MutPred_score=0.498;MutPred_rankscore=0.589;CADD_raw=3.989;CADD_raw_rankscore=0.536;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.621;fathmm-MKL_coding_score=0.755;fathmm-MKL_coding_rankscore=0.367;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.421;Eigen-PC-raw=0.421;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.442;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=3.257;phyloP100way_vertebrate_rankscore=0.510;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.476;phastCons20way_mammalian_rankscore=0.267;SiPhy_29way_logOdds=19.609;SiPhy_29way_logOdds_rankscore=0.956;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=3.754e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.581503;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440311 rs201221521 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201221521;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923160;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440380 rs200500729 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17957;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.A4800G:p.G1600G,LAMA4:NM_001105207:exon34:c.A4779G:p.G1593G,LAMA4:NM_002290:exon34:c.A4779G:p.G1593G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200500729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.306844;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440464 rs35679345 G A 100 PASS AC=2;AF=0.0666933;AN=214;NS=2504;DP=19510;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.2405;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.C4716T:p.L1572L,LAMA4:NM_001105207:exon34:c.C4695T:p.L1565L,LAMA4:NM_002290:exon34:c.C4695T:p.L1565L;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35679345;CLNALLELEID=53563;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0210;ExAC_nontcga_AFR=0.2253;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0636;AF_popmax=0.2244;AF_male=0.0650;AF_female=0.0618;AF_raw=0.0637;AF_afr=0.2244;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.2244;non_neuro_AF_popmax=0.2298;non_cancer_AF_popmax=.;controls_AF_popmax=0.2409;Kaviar_AF=0.0197734;Kaviar_AC=3057;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.380826;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112441727 rs148829144 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19052;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148829144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.147e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.304e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.469218;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112451012 rs371544384 A AT 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=18216;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0256;AA=TTTTT|TTTTT|TTTTTT|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371544384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0026;AF_popmax=0.0033;AF_male=0.0027;AF_female=0.0025;AF_raw=0.0026;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0046;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.847505;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112457383 rs1050349 G C 100 PASS AC=55;AF=0.210463;AN=214;NS=2504;DP=19414;EAS_AF=0.3601;AMR_AF=0.2104;AFR_AF=0.1233;EUR_AF=0.2316;SAS_AF=0.1524;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.C3356G:p.P1119R,LAMA4:NM_001105207:exon25:c.C3335G:p.P1112R,LAMA4:NM_002290:exon25:c.C3335G:p.P1112R;1000g2015aug_all=0.210463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050349;CLNALLELEID=53544;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.227;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.32;MutationAssessor_score_rankscore=0.666;MutationAssessor_pred=M;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-3.37;PROVEAN_converted_rankscore=0.666;PROVEAN_pred=D;VEST3_score=0.777;VEST3_rankscore=0.769;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.567;MetaLR_rankscore=0.843;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.653;REVEL_rankscore=0.871;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.097;CADD_raw_rankscore=0.550;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.848;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.966;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.734;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=8.854;phyloP100way_vertebrate_rankscore=0.918;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=20.337;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000203778.3|ENSG00000074935.9|ENSG00000203778.3|ENSG00000203778.3|ENSG00000010810.13|ENSG00000203778.3|ENSG00000010810.13|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000112769.14|ENSG00000203778.3|ENSG00000203778.3|ENSG00000112761.14|ENSG00000203778.3|ENSG00000112761.14|ENSG00000203778.3|ENSG00000203778.3;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2603;ExAC_nontcga_ALL=0.2212;ExAC_nontcga_AFR=0.1415;ExAC_nontcga_AMR=0.1682;ExAC_nontcga_EAS=0.3481;ExAC_nontcga_FIN=0.1708;ExAC_nontcga_NFE=0.2549;ExAC_nontcga_OTH=0.1859;ExAC_nontcga_SAS=0.1513;AF=0.2150;AF_popmax=0.3472;AF_male=0.2189;AF_female=0.2101;AF_raw=0.2155;AF_afr=0.1449;AF_sas=.;AF_amr=0.1820;AF_eas=0.3472;AF_nfe=0.2529;AF_fin=0.1658;AF_asj=0.2931;AF_oth=0.2123;non_topmed_AF_popmax=0.3443;non_neuro_AF_popmax=0.3472;non_cancer_AF_popmax=.;controls_AF_popmax=0.3515;Kaviar_AF=0.222753;Kaviar_AC=34438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345281;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112457390 rs2032567 C T 100 PASS AC=142;AF=0.839856;AN=214;NS=2504;DP=19316;EAS_AF=0.873;AMR_AF=0.83;AFR_AF=0.8805;EUR_AF=0.7087;SAS_AF=0.8926;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S;1000g2015aug_all=0.839856;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2032567;CLNALLELEID=53543;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_converted_rankscore=0.229;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=P;MutationAssessor_score=-0.255;MutationAssessor_score_rankscore=0.038;MutationAssessor_pred=N;FATHMM_score=-1.16;FATHMM_converted_rankscore=0.781;FATHMM_pred=T;PROVEAN_score=1.43;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.068;MetaSVM_score=-1.082;MetaSVM_rankscore=0.070;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.358;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.217;REVEL_rankscore=0.516;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.280;CADD_raw_rankscore=0.335;CADD_phred=18.04;DANN_score=0.189;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_rankscore=0.164;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.636;Eigen-PC-raw=-0.397;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=3.503;phyloP100way_vertebrate_rankscore=0.529;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=12.152;SiPhy_29way_logOdds_rankscore=0.532;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000112761.14;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6965;ExAC_nontcga_ALL=0.7736;ExAC_nontcga_AFR=0.8672;ExAC_nontcga_AMR=0.8851;ExAC_nontcga_EAS=0.8549;ExAC_nontcga_FIN=0.7327;ExAC_nontcga_NFE=0.7013;ExAC_nontcga_OTH=0.7781;ExAC_nontcga_SAS=0.8630;AF=0.7731;AF_popmax=0.8726;AF_male=0.7750;AF_female=0.7708;AF_raw=0.7726;AF_afr=0.8666;AF_sas=.;AF_amr=0.8726;AF_eas=0.8671;AF_nfe=0.7201;AF_fin=0.7193;AF_asj=0.7793;AF_oth=0.7330;non_topmed_AF_popmax=0.8753;non_neuro_AF_popmax=0.8671;non_cancer_AF_popmax=.;controls_AF_popmax=0.8682;Kaviar_AF=0.713031;Kaviar_AC=110236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345281;ALLELE_END GT 1|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|0 0|1 +6 112457471 rs2032568 G A 100 PASS AC=142;AF=0.840455;AN=214;NS=2504;DP=19915;EAS_AF=0.873;AMR_AF=0.83;AFR_AF=0.8828;EUR_AF=0.7087;SAS_AF=0.8926;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.840455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2032568;CLNALLELEID=53542;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6959;ExAC_nontcga_ALL=0.7740;ExAC_nontcga_AFR=0.8718;ExAC_nontcga_AMR=0.8854;ExAC_nontcga_EAS=0.8548;ExAC_nontcga_FIN=0.7314;ExAC_nontcga_NFE=0.7012;ExAC_nontcga_OTH=0.7775;ExAC_nontcga_SAS=0.8629;AF=0.7745;AF_popmax=0.8729;AF_male=0.7762;AF_female=0.7723;AF_raw=0.7742;AF_afr=0.8725;AF_sas=.;AF_amr=0.8729;AF_eas=0.8671;AF_nfe=0.7195;AF_fin=0.7196;AF_asj=0.7793;AF_oth=0.7320;non_topmed_AF_popmax=0.8756;non_neuro_AF_popmax=0.8732;non_cancer_AF_popmax=.;controls_AF_popmax=0.8756;Kaviar_AF=0.725036;Kaviar_AC=112092;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.986079;ALLELE_END GT 1|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|0 0|1 +6 112460365 rs41289902 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19498;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon24:c.G3239A:p.R1080Q,LAMA4:NM_001105207:exon24:c.G3218A:p.R1073Q,LAMA4:NM_002290:exon24:c.G3218A:p.R1073Q;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289902;CLNALLELEID=53541;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.86;MutationAssessor_score_rankscore=0.494;MutationAssessor_pred=L;FATHMM_score=-1.78;FATHMM_converted_rankscore=0.837;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.843;VEST3_rankscore=0.830;MetaSVM_score=0.129;MetaSVM_rankscore=0.847;MetaSVM_pred=D;MetaLR_score=0.611;MetaLR_rankscore=0.862;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.671;REVEL_rankscore=0.880;MutPred_score=.;MutPred_rankscore=.;CADD_raw=8.015;CADD_raw_rankscore=0.957;CADD_phred=35;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.635;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.773;Eigen-PC-raw=0.804;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=7.378;phyloP100way_vertebrate_rankscore=0.788;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.443;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0224;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0027;AF=0.0101;AF_popmax=0.0136;AF_male=0.0101;AF_female=0.0102;AF_raw=0.0101;AF_afr=0.0015;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0230;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0099158;Kaviar_AC=1533;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767722;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112460511 rs80168443 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20080;EAS_AF=0.006;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80168443;CLNALLELEID=368794;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0056;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0005;AF_popmax=0.0064;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0064;AF_nfe=0.0003;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.000608;Kaviar_AC=94;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.702303;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112460541 rs2072019 G A 100 PASS AC=60;AF=0.300519;AN=214;NS=2504;DP=20915;EAS_AF=0.4286;AMR_AF=0.2291;AFR_AF=0.3896;EUR_AF=0.2445;SAS_AF=0.1564;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.300519;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072019;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.27;ExAC_nontcga_ALL=0.2550;ExAC_nontcga_AFR=0.3917;ExAC_nontcga_AMR=0.1800;ExAC_nontcga_EAS=0.4216;ExAC_nontcga_FIN=0.1784;ExAC_nontcga_NFE=0.2625;ExAC_nontcga_OTH=0.2052;ExAC_nontcga_SAS=0.1604;AF=0.2958;AF_popmax=0.4240;AF_male=0.3002;AF_female=0.2903;AF_raw=0.2958;AF_afr=0.4040;AF_sas=.;AF_amr=0.2028;AF_eas=0.4240;AF_nfe=0.2592;AF_fin=0.1730;AF_asj=0.3034;AF_oth=0.2298;non_topmed_AF_popmax=0.4201;non_neuro_AF_popmax=0.4240;non_cancer_AF_popmax=.;controls_AF_popmax=0.4297;Kaviar_AF=0.255223;Kaviar_AC=39458;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.303309::0.220899;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.040131;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112461135 rs200713694 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200713694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0032;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0016235;Kaviar_AC=251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 112463253 rs531051864 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20892;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531051864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.913721;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112463419 rs144123257 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon20:c.G2569A:p.A857T,LAMA4:NM_001105207:exon20:c.G2548A:p.A850T,LAMA4:NM_002290:exon20:c.G2548A:p.A850T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144123257;CLNALLELEID=178225;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.323;SIFT_converted_rankscore=0.134;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.299;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_converted_rankscore=0.316;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_converted_rankscore=0.453;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.026;MetaSVM_score=-1.081;MetaSVM_rankscore=0.072;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.159;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.157;M-CAP_pred=T;REVEL_score=0.112;REVEL_rankscore=0.321;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.299;CADD_raw_rankscore=0.220;CADD_phred=12.26;DANN_score=0.876;DANN_rankscore=0.168;fathmm-MKL_coding_score=0.608;fathmm-MKL_coding_rankscore=0.310;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.388;Eigen-PC-raw=-0.288;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.14;GERP++_RS_rankscore=0.350;phyloP100way_vertebrate=1.209;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.878;phastCons20way_mammalian_rankscore=0.368;SiPhy_29way_logOdds=4.138;SiPhy_29way_logOdds_rankscore=0.096;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain|Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.475e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.372e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.626879;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112463545 rs150691496 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18165;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150691496;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112466086 rs142559688 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19276;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon19:c.G2403A:p.T801T,LAMA4:NM_001105207:exon19:c.G2382A:p.T794T,LAMA4:NM_002290:exon19:c.G2382A:p.T794T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142559688;CLNALLELEID=176849;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0020;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.265517;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112469480 rs145489423 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17132;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon18:c.G2232A:p.T744T,LAMA4:NM_001105207:exon18:c.G2211A:p.T737T,LAMA4:NM_002290:exon18:c.G2211A:p.T737T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145489423;CLNALLELEID=508812;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.712e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.204e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.554e-05;AF_popmax=0.0002;AF_male=5.722e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.514261;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112471688 rs3734286 G C 100 PASS AC=64;AF=0.3127;AN=214;NS=2504;DP=19611;EAS_AF=0.4196;AMR_AF=0.2392;AFR_AF=0.4319;EUR_AF=0.2575;SAS_AF=0.1503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2797;ExAC_nontcga_ALL=0.2620;ExAC_nontcga_AFR=0.4273;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.4195;ExAC_nontcga_FIN=0.1739;ExAC_nontcga_NFE=0.2703;ExAC_nontcga_OTH=0.2118;ExAC_nontcga_SAS=0.1571;AF=0.3073;AF_popmax=0.4379;AF_male=0.3116;AF_female=0.3019;AF_raw=0.3075;AF_afr=0.4379;AF_sas=.;AF_amr=0.2111;AF_eas=0.4218;AF_nfe=0.2636;AF_fin=0.1651;AF_asj=0.3414;AF_oth=0.2403;non_topmed_AF_popmax=0.4366;non_neuro_AF_popmax=0.4529;non_cancer_AF_popmax=.;controls_AF_popmax=0.4571;Kaviar_AF=0.266303;Kaviar_AC=41171;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.316176::0.206351;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790553|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.042535;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 1|1 +6 112476210 rs2277084 T C 100 PASS AC=63;AF=0.3127;AN=214;NS=2504;DP=19275;EAS_AF=0.4206;AMR_AF=0.2406;AFR_AF=0.4183;EUR_AF=0.2575;SAS_AF=0.1667;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277084;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3057;AF_popmax=0.4286;AF_male=0.3104;AF_female=0.2997;AF_raw=0.3056;AF_afr=0.4286;AF_sas=.;AF_amr=0.2156;AF_eas=0.4227;AF_nfe=0.2644;AF_fin=0.1680;AF_asj=0.3345;AF_oth=0.2431;non_topmed_AF_popmax=0.4275;non_neuro_AF_popmax=0.4425;non_cancer_AF_popmax=.;controls_AF_popmax=0.4459;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.314338::0.20265;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.535879;ALLELE_END GT 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 1|1 +6 112480041 rs3752577 A G 100 PASS AC=22;AF=0.091254;AN=214;NS=2504;DP=17123;EAS_AF=0.13;AMR_AF=0.1225;AFR_AF=0.028;EUR_AF=0.1034;SAS_AF=0.1022;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S;1000g2015aug_all=0.091254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3752577;CLNALLELEID=53518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0881;ExAC_nontcga_ALL=0.1053;ExAC_nontcga_AFR=0.0426;ExAC_nontcga_AMR=0.1417;ExAC_nontcga_EAS=0.0984;ExAC_nontcga_FIN=0.1841;ExAC_nontcga_NFE=0.0979;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.1103;AF=0.1074;AF_popmax=0.1284;AF_male=0.1019;AF_female=0.1142;AF_raw=0.1075;AF_afr=0.0397;AF_sas=.;AF_amr=0.1102;AF_eas=0.0900;AF_nfe=0.1284;AF_fin=0.1829;AF_asj=0.0655;AF_oth=0.1439;non_topmed_AF_popmax=0.1420;non_neuro_AF_popmax=0.1304;non_cancer_AF_popmax=.;controls_AF_popmax=0.1856;Kaviar_AF=0.100413;Kaviar_AC=15524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.214315;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112486397 rs138153075 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18440;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon13:c.C1633T:p.R545C,LAMA4:NM_001105207:exon13:c.C1612T:p.R538C,LAMA4:NM_002290:exon13:c.C1612T:p.R538C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138153075;CLNALLELEID=53516;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.093;SIFT_converted_rankscore=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.659;Polyphen2_HVAR_rankscore=0.509;Polyphen2_HVAR_pred=P;LRT_score=0.469;LRT_converted_rankscore=0.123;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=2.88;FATHMM_converted_rankscore=0.103;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_converted_rankscore=0.547;PROVEAN_pred=D;VEST3_score=0.375;VEST3_rankscore=0.636;MetaSVM_score=-1.012;MetaSVM_rankscore=0.263;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_rankscore=0.066;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.383;M-CAP_pred=T;REVEL_score=0.192;REVEL_rankscore=0.476;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.719;CADD_raw_rankscore=0.633;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.917;fathmm-MKL_coding_score=0.591;fathmm-MKL_coding_rankscore=0.306;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=-0.197;GenoCanyon_score=0.944;GenoCanyon_score_rankscore=0.276;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=3.153;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=6.096;SiPhy_29way_logOdds_rankscore=0.191;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0018;AF_popmax=0.0030;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.968811;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493774 rs34737104 C T 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=18269;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34737104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0012;AF=0.0027;AF_popmax=0.0059;AF_male=0.0026;AF_female=0.0028;AF_raw=0.0027;AF_afr=0.0017;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029301;Kaviar_AC=453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493790 rs144948073 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18275;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144948073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0004;AF_popmax=0.0007;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.068222;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493872 rs1050348 A G 100 PASS AC=140;AF=0.758387;AN=214;NS=2504;DP=16113;EAS_AF=0.8135;AMR_AF=0.7205;AFR_AF=0.7799;EUR_AF=0.6501;SAS_AF=0.8108;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H;1000g2015aug_all=0.758387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050348;CLNALLELEID=53515;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_converted_rankscore=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.487;LRT_converted_rankscore=0.121;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_score_rankscore=0.008;MutationAssessor_pred=N;FATHMM_score=2.95;FATHMM_converted_rankscore=0.097;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.011;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.057;REVEL_rankscore=0.167;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.041;CADD_raw_rankscore=0.090;CADD_phred=2.212;DANN_score=0.117;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.889;Eigen-PC-raw=-0.715;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.442;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=1.851;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.138;phyloP20way_mammalian_rankscore=0.222;phastCons100way_vertebrate=0.973;phastCons100way_vertebrate_rankscore=0.343;phastCons20way_mammalian=0.782;phastCons20way_mammalian_rankscore=0.331;SiPhy_29way_logOdds=4.881;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=ENSG00000237234.2|ENSG00000112769.14;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6020;ExAC_nontcga_ALL=0.6691;ExAC_nontcga_AFR=0.7525;ExAC_nontcga_AMR=0.7148;ExAC_nontcga_EAS=0.8202;ExAC_nontcga_FIN=0.5664;ExAC_nontcga_NFE=0.5987;ExAC_nontcga_OTH=0.6657;ExAC_nontcga_SAS=0.7940;AF=0.6561;AF_popmax=0.8394;AF_male=0.6577;AF_female=0.6541;AF_raw=0.6561;AF_afr=0.7493;AF_sas=.;AF_amr=0.7358;AF_eas=0.8394;AF_nfe=0.6042;AF_fin=0.5578;AF_asj=0.6552;AF_oth=0.6365;non_topmed_AF_popmax=0.8406;non_neuro_AF_popmax=0.8394;non_cancer_AF_popmax=.;controls_AF_popmax=0.8385;Kaviar_AF=0.657656;Kaviar_AC=101675;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000802030|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.462924;ALLELE_END GT 1|1 0|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 +6 112496511 rs6917763 C A 100 PASS AC=6;AF=0.08127;AN=214;NS=2504;DP=17526;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.2769;EUR_AF=0.0139;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.08127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6917763;CLNALLELEID=53510;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0323;ExAC_nontcga_AFR=0.2373;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0104;AF=0.0692;AF_popmax=0.2229;AF_male=0.0707;AF_female=0.0672;AF_raw=0.0694;AF_afr=0.2229;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0058;AF_asj=0.0138;AF_oth=0.0221;non_topmed_AF_popmax=0.2219;non_neuro_AF_popmax=0.2237;non_cancer_AF_popmax=.;controls_AF_popmax=0.2272;Kaviar_AF=0.0308728;Kaviar_AC=4773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.590685;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112496690 rs73538515 G C 100 PASS AC=2;AF=0.0315495;AN=214;NS=2504;DP=19388;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1135;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0315495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73538515;CLNALLELEID=53506;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0035;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.1072;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0001;AF=0.0288;AF_popmax=0.1017;AF_male=0.0286;AF_female=0.0291;AF_raw=0.0288;AF_afr=0.1017;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.1014;non_neuro_AF_popmax=0.1039;non_cancer_AF_popmax=.;controls_AF_popmax=0.1092;Kaviar_AF=0.009353;Kaviar_AC=1446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698308;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112499245 rs56948541 G A 100 PASS AC=2;AF=0.0329473;AN=214;NS=2504;DP=21132;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1135;EUR_AF=0.004;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56948541;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0288;AF_popmax=0.1016;AF_male=0.0284;AF_female=0.0292;AF_raw=0.0288;AF_afr=0.1016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.1013;non_neuro_AF_popmax=0.1038;non_cancer_AF_popmax=.;controls_AF_popmax=0.1090;Kaviar_AF=0.011065;Kaviar_AC=288;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.891877;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112506375 rs9374309 G A 100 PASS AC=111;AF=0.416933;AN=214;NS=2504;DP=15825;EAS_AF=0.5099;AMR_AF=0.5346;AFR_AF=0.118;EUR_AF=0.5129;SAS_AF=0.5429;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.416933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9374309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3716;AF_popmax=0.5908;AF_male=0.3693;AF_female=0.3745;AF_raw=0.3715;AF_afr=0.1633;AF_sas=.;AF_amr=0.5908;AF_eas=0.5097;AF_nfe=0.4530;AF_fin=0.3837;AF_asj=0.5069;AF_oth=0.4435;non_topmed_AF_popmax=0.5963;non_neuro_AF_popmax=0.5686;non_cancer_AF_popmax=.;controls_AF_popmax=0.5610;Kaviar_AF=0.0901023;Kaviar_AC=13930;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.726170;ALLELE_END GT 1|1 0|0 0|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|0 1|0 1|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|0 0|1 1|1 +6 112506583 rs6908219 G T 100 PASS AC=168;AF=0.900559;AN=214;NS=2504;DP=19925;EAS_AF=0.9861;AMR_AF=0.8746;AFR_AF=0.9887;EUR_AF=0.7396;SAS_AF=0.8773;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6908219;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7115;ExAC_nontcga_ALL=0.7949;ExAC_nontcga_AFR=0.9525;ExAC_nontcga_AMR=0.9088;ExAC_nontcga_EAS=0.9898;ExAC_nontcga_FIN=0.6475;ExAC_nontcga_NFE=0.7126;ExAC_nontcga_OTH=0.7795;ExAC_nontcga_SAS=0.8695;AF=0.7894;AF_popmax=0.9917;AF_male=0.7937;AF_female=0.7839;AF_raw=0.7893;AF_afr=0.9551;AF_sas=.;AF_amr=0.8892;AF_eas=0.9917;AF_nfe=0.7044;AF_fin=0.6478;AF_asj=0.8103;AF_oth=0.7436;non_topmed_AF_popmax=0.9914;non_neuro_AF_popmax=0.9917;non_cancer_AF_popmax=.;controls_AF_popmax=0.9902;Kaviar_AF=0.769654;Kaviar_AC=118990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 +6 112508745 rs141611768 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17719;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.C873T:p.I291I,LAMA4:NM_001105207:exon8:c.C852T:p.I284I,LAMA4:NM_002290:exon8:c.C852T:p.I284I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141611768;CLNALLELEID=501079;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.039803;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112508769 rs9387061 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18546;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.A849C:p.A283A,LAMA4:NM_001105207:exon8:c.A828C:p.A276A,LAMA4:NM_002290:exon8:c.A828C:p.A276A;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9387061;CLNALLELEID=141771;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=0.9999;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.911056;Kaviar_AC=140851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206740;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 112508770 rs9400522 G T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18667;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.C848A:p.A283E,LAMA4:NM_001105207:exon8:c.C827A:p.A276E,LAMA4:NM_002290:exon8:c.C827A:p.A276E;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9400522;CLNALLELEID=141770;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=0.9999;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.91046;Kaviar_AC=140759;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206740;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 112512905 rs2072021 G A 100 PASS AC=28;AF=0.316893;AN=214;NS=2504;DP=18568;EAS_AF=0.2619;AMR_AF=0.1816;AFR_AF=0.6067;EUR_AF=0.1352;SAS_AF=0.2648;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T;1000g2015aug_all=0.316893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072021;CLNALLELEID=53576;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1219;ExAC_nontcga_ALL=0.2013;ExAC_nontcga_AFR=0.5533;ExAC_nontcga_AMR=0.1337;ExAC_nontcga_EAS=0.2843;ExAC_nontcga_FIN=0.1913;ExAC_nontcga_NFE=0.1337;ExAC_nontcga_OTH=0.1888;ExAC_nontcga_SAS=0.2421;AF=0.2728;AF_popmax=0.5475;AF_male=0.2760;AF_female=0.2688;AF_raw=0.2727;AF_afr=0.5475;AF_sas=.;AF_amr=0.1403;AF_eas=0.2716;AF_nfe=0.1515;AF_fin=0.1930;AF_asj=0.1414;AF_oth=0.1913;non_topmed_AF_popmax=0.5468;non_neuro_AF_popmax=0.5488;non_cancer_AF_popmax=.;controls_AF_popmax=0.5561;Kaviar_AF=0.191201;Kaviar_AC=29560;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1309126|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.475759;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112522852 rs11757455 G A 100 PASS AC=14;AF=0.0309505;AN=214;NS=2504;DP=19937;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.0015;EUR_AF=0.0596;SAS_AF=0.0736;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon5:c.C460T:p.R154W,LAMA4:NM_001105207:exon5:c.C460T:p.R154W,LAMA4:NM_002290:exon5:c.C460T:p.R154W;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11757455;CLNALLELEID=53559;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.902;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=2.7;MutationAssessor_score_rankscore=0.793;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-5.14;PROVEAN_converted_rankscore=0.833;PROVEAN_pred=D;VEST3_score=0.739;VEST3_rankscore=0.736;MetaSVM_score=-0.225;MetaSVM_rankscore=0.770;MetaSVM_pred=T;MetaLR_score=0.348;MetaLR_rankscore=0.712;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.374;REVEL_rankscore=0.696;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.272;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.989;fathmm-MKL_coding_score=0.898;fathmm-MKL_coding_rankscore=0.503;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.614;Eigen-PC-raw=0.573;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=2.452;phyloP100way_vertebrate_rankscore=0.444;phyloP20way_mammalian=0.127;phyloP20way_mammalian_rankscore=0.214;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=14.056;SiPhy_29way_logOdds_rankscore=0.641;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0649;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0104;ExAC_nontcga_AMR=0.0275;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0373;ExAC_nontcga_NFE=0.0603;ExAC_nontcga_OTH=0.0663;ExAC_nontcga_SAS=0.0990;AF=0.0428;AF_popmax=0.0645;AF_male=0.0430;AF_female=0.0425;AF_raw=0.0428;AF_afr=0.0129;AF_sas=.;AF_amr=0.0330;AF_eas=0.0006;AF_nfe=0.0645;AF_fin=0.0411;AF_asj=0.0276;AF_oth=0.0515;non_topmed_AF_popmax=0.0626;non_neuro_AF_popmax=0.0653;non_cancer_AF_popmax=.;controls_AF_popmax=0.0633;Kaviar_AF=0.0517975;Kaviar_AC=8008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.323231;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112522893 rs79008328 A C 100 PASS AC=3;AF=0.0207668;AN=214;NS=2504;DP=19712;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0643;EUR_AF=0.0089;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79008328;CLNALLELEID=53552;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.044;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0136;ExAC_nontcga_AFR=0.0444;ExAC_nontcga_AMR=0.0097;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0031;AF=0.0177;AF_popmax=0.0400;AF_male=0.0179;AF_female=0.0174;AF_raw=0.0177;AF_afr=0.0400;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0058;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0401;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0393;Kaviar_AF=0.012917;Kaviar_AC=1997;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.473566;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112528149 rs141010965;rs141010965;rs562033169 AAAACA AAAACAAAACAAAACG,A 100 PASS AC=2,7;AF=0.057508,0.0115815;AN=214;NS=2504;DP=21675;EAS_AF=0,0.001;AMR_AF=0.0159,0.013;AFR_AF=0.2057,0;EUR_AF=0.005,0.0268;SAS_AF=0,0.0215;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141010965;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0519;AF_popmax=0.1833;AF_male=0.0530;AF_female=0.0505;AF_raw=0.0521;AF_afr=0.1833;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.1830;non_neuro_AF_popmax=0.1883;non_cancer_AF_popmax=.;controls_AF_popmax=0.1960;Kaviar_AF=0.0022284;Kaviar_AC=58;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.329973;ALLELE_END GT 0|0 2|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 +6 112537497 rs2068770 A G 100 PASS AC=92;AF=0.489417;AN=214;NS=2504;DP=19668;EAS_AF=0.4534;AMR_AF=0.3804;AFR_AF=0.7526;EUR_AF=0.3797;SAS_AF=0.3609;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.489417;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2068770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4375;AF_popmax=0.6994;AF_male=0.4415;AF_female=0.4326;AF_raw=0.4376;AF_afr=0.6994;AF_sas=.;AF_amr=0.3561;AF_eas=0.4397;AF_nfe=0.3344;AF_fin=0.2848;AF_asj=0.4448;AF_oth=0.3508;non_topmed_AF_popmax=0.6992;non_neuro_AF_popmax=0.7050;non_cancer_AF_popmax=.;controls_AF_popmax=0.7153;Kaviar_AF=0.0711181;Kaviar_AC=10995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.880294;ALLELE_END GT 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 1|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 0|0 0|1 1|0 +6 112537682 rs78871662 A G 100 PASS AC=9;AF=0.0121805;AN=214;NS=2504;DP=18541;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0023;EUR_AF=0.0268;SAS_AF=0.0215;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78871662;CLNALLELEID=53521;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0091;dbscSNV_RF_SCORE=0.142;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0204;ExAC_nontcga_SAS=0.0209;AF=0.0158;AF_popmax=0.0215;AF_male=0.0160;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0048;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0201;AF_asj=0.0448;AF_oth=0.0267;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0211;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.0188613;Kaviar_AC=2916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.230869;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112574962 rs141700664 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927640;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141700664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.484e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.130178;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112575203 rs538596272 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14897;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon2:c.G150A:p.T50T,LAMA4:NM_001105207:exon2:c.G150A:p.T50T,LAMA4:NM_001105208:exon2:c.G150A:p.T50T,LAMA4:NM_001105209:exon2:c.G150A:p.T50T,LAMA4:NM_002290:exon2:c.G150A:p.T50T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538596272;CLNALLELEID=395024;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.937e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836769;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon2:c.G150A:p.T50T,LAMA4:NM_001105207:exon2:c.G150A:p.T50T,LAMA4:NM_001105208:exon2:c.G150A:p.T50T,LAMA4:NM_001105209:exon2:c.G150A:p.T50T,LAMA4:NM_002290:exon2:c.G150A:p.T50T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538596272;CLNALLELEID=395024;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.937e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836769;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 118880029 rs189611501 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18972;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PLN;GeneDetail.refGene=NM_002667:c.-56C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189611501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0008;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0070927|N/A|N/A|VistaEnhancers;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 121768710 rs57946868 G A 100 PASS AC=4;AF=0.034345;AN=214;NS=2504;DP=19762;EAS_AF=0.003;AMR_AF=0.013;AFR_AF=0.0923;EUR_AF=0.0129;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.G717A:p.R239R;1000g2015aug_all=0.034345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57946868;CLNALLELEID=141185;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:C4551854,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0839;ExAC_nontcga_AMR=0.0093;ExAC_nontcga_EAS=0.0020;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0324;AF=0.0303;AF_popmax=0.0776;AF_male=0.0304;AF_female=0.0302;AF_raw=0.0304;AF_afr=0.0776;AF_sas=.;AF_amr=0.0047;AF_eas=0.0019;AF_nfe=0.0156;AF_fin=0.0029;AF_asj=0.0103;AF_oth=0.0138;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0763;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.946027;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 121768751 rs17653265 C T 100 PASS AC=4;AF=0.00299521;AN=214;NS=2504;DP=19606;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.C758T:p.A253V;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17653265;CLNALLELEID=141186;CLNDN=Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.175;SIFT_converted_rankscore=0.224;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.275;LRT_converted_rankscore=0.151;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-4.29;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.209;MetaSVM_rankscore=0.775;MetaSVM_pred=T;MetaLR_score=0.562;MetaLR_rankscore=0.841;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.262;REVEL_rankscore=0.579;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.586;DANN_score=0.978;DANN_rankscore=0.356;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_rankscore=0.390;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.649;Eigen-PC-raw=-0.559;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.89;GERP++_RS_rankscore=0.439;phyloP100way_vertebrate=3.784;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.890;phyloP20way_mammalian_rankscore=0.394;phastCons100way_vertebrate=0.661;phastCons100way_vertebrate_rankscore=0.280;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=10.136;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0160;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0011;AF=0.0075;AF_popmax=0.0120;AF_male=0.0077;AF_female=0.0073;AF_raw=0.0075;AF_afr=0.0029;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0120;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0085186;Kaviar_AC=1317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895947;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 121769144 rs67678923 T TA 100 PASS AC=3;AF=0.0579073;AN=214;NS=2504;DP=17943;EAS_AF=0.002;AMR_AF=0.3184;AFR_AF=0.0053;EUR_AF=0.0408;SAS_AF=0.0194;AA=A|A|AA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GJA1;GeneDetail.refGene=NM_000165:c.*2_*3insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397824185;CLNALLELEID=252067;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C4551854,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0471;ExAC_nontcga_ALL=0.0813;ExAC_nontcga_AFR=0.0106;ExAC_nontcga_AMR=0.4718;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0441;ExAC_nontcga_OTH=0.0497;ExAC_nontcga_SAS=0.0239;AF=0.0465;AF_popmax=0.3679;AF_male=0.0446;AF_female=0.0488;AF_raw=0.0465;AF_afr=0.0122;AF_sas=.;AF_amr=0.3679;AF_eas=0.0013;AF_nfe=0.0520;AF_fin=0.0423;AF_asj=0.0552;AF_oth=0.0681;non_topmed_AF_popmax=0.3704;non_neuro_AF_popmax=0.3195;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.0028331;Kaviar_AC=438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000416|hsa-miR-1-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.797641;ALLELE_END GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123539684 rs361508 C T 100 PASS AC=174;AF=0.761182;AN=214;NS=2504;DP=20097;EAS_AF=0.5159;AMR_AF=0.8314;AFR_AF=0.9796;EUR_AF=0.7972;SAS_AF=0.6319;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:c.*62G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.761182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs361508;CLNALLELEID=298885;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8109;AF_popmax=0.9559;AF_male=0.8142;AF_female=0.8067;AF_raw=0.8102;AF_afr=0.9559;AF_sas=.;AF_amr=0.8385;AF_eas=0.5242;AF_nfe=0.7906;AF_fin=0.6746;AF_asj=0.7793;AF_oth=0.7625;non_topmed_AF_popmax=0.9556;non_neuro_AF_popmax=0.9537;non_cancer_AF_popmax=.;controls_AF_popmax=0.9532;Kaviar_AF=0.0374981;Kaviar_AC=976;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.644000;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|0 +6 123539685 rs1259 T C 100 PASS AC=106;AF=0.465256;AN=214;NS=2504;DP=20280;EAS_AF=0.371;AMR_AF=0.5836;AFR_AF=0.5855;EUR_AF=0.4414;SAS_AF=0.3405;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:c.*61A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.465256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1259;CLNALLELEID=305725;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4737;AF_popmax=0.6188;AF_male=0.4801;AF_female=0.4657;AF_raw=0.4739;AF_afr=0.5542;AF_sas=.;AF_amr=0.6188;AF_eas=0.3575;AF_nfe=0.4554;AF_fin=0.3797;AF_asj=0.5276;AF_oth=0.4261;non_topmed_AF_popmax=0.6169;non_neuro_AF_popmax=0.6040;non_cancer_AF_popmax=.;controls_AF_popmax=0.6463;Kaviar_AF=0.0474573;Kaviar_AC=7337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.644000;ALLELE_END GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 +6 123539904 rs7754205 C T 100 PASS AC=106;AF=0.375998;AN=214;NS=2504;DP=20393;EAS_AF=0.3304;AMR_AF=0.5677;AFR_AF=0.3548;EUR_AF=0.4374;SAS_AF=0.2526;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.375998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7754205;CLNALLELEID=252068;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4593;ExAC_nontcga_ALL=0.4108;ExAC_nontcga_AFR=0.3821;ExAC_nontcga_AMR=0.5852;ExAC_nontcga_EAS=0.3836;ExAC_nontcga_FIN=0.3812;ExAC_nontcga_NFE=0.5017;ExAC_nontcga_OTH=0.4640;ExAC_nontcga_SAS=0.3169;AF=0.4108;AF_popmax=0.6057;AF_male=0.4140;AF_female=0.4068;AF_raw=0.4106;AF_afr=0.3502;AF_sas=.;AF_amr=0.6057;AF_eas=0.3161;AF_nfe=0.4524;AF_fin=0.3647;AF_asj=0.5241;AF_oth=0.4065;non_topmed_AF_popmax=0.6045;non_neuro_AF_popmax=0.5912;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 +6 123542784 rs563694688 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563694688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123545159 rs11368178 GA G 100 PASS AC=110;AF=0.50639;AN=214;NS=2504;DP=15744;EAS_AF=0.4167;AMR_AF=0.5965;AFR_AF=0.5809;EUR_AF=0.4801;SAS_AF=0.4611;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.50639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11368178;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4980;AF_popmax=0.5992;AF_male=0.5;AF_female=0.4955;AF_raw=0.4477;AF_afr=0.5534;AF_sas=.;AF_amr=0.5992;AF_eas=0.3781;AF_nfe=0.4790;AF_fin=0.4417;AF_asj=0.5528;AF_oth=0.4769;non_topmed_AF_popmax=0.5909;non_neuro_AF_popmax=0.5895;non_cancer_AF_popmax=.;controls_AF_popmax=0.6327;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|1 1|0 1|1 1|0 +6 123580660 rs12661887 C T 100 PASS AC=119;AF=0.335264;AN=214;NS=2504;DP=16261;EAS_AF=0.2907;AMR_AF=0.5548;AFR_AF=0.1793;EUR_AF=0.508;SAS_AF=0.2587;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12661887;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4004;AF_popmax=0.5641;AF_male=0.4028;AF_female=0.3974;AF_raw=0.4000;AF_afr=0.2056;AF_sas=.;AF_amr=0.5641;AF_eas=0.2778;AF_nfe=0.5102;AF_fin=0.3900;AF_asj=0.5759;AF_oth=0.4392;non_topmed_AF_popmax=0.5634;non_neuro_AF_popmax=0.5491;non_cancer_AF_popmax=.;controls_AF_popmax=0.5738;Kaviar_AF=0.471608;Kaviar_AC=12275;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 +6 123580675 rs9375235 C T 100 PASS AC=40;AF=0.319888;AN=214;NS=2504;DP=16300;EAS_AF=0.5069;AMR_AF=0.2277;AFR_AF=0.3041;EUR_AF=0.1869;SAS_AF=0.3507;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.319888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9375235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2475;AF_popmax=0.5367;AF_male=0.2473;AF_female=0.2477;AF_raw=0.2476;AF_afr=0.2844;AF_sas=.;AF_amr=0.2536;AF_eas=0.5367;AF_nfe=0.1894;AF_fin=0.2885;AF_asj=0.1931;AF_oth=0.2408;non_topmed_AF_popmax=0.5376;non_neuro_AF_popmax=0.5367;non_cancer_AF_popmax=.;controls_AF_popmax=0.5460;Kaviar_AF=0.218227;Kaviar_AC=5680;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123581843 rs529007587 T A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=12743;EAS_AF=0.004;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529007587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005379;Kaviar_AC=14;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123588810 rs142280675 A G 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=15033;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142280675;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0022;AF_popmax=0.0040;AF_male=0.0019;AF_female=0.0025;AF_raw=0.0022;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0020698;Kaviar_AC=320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 123591138 rs1367676 T A 100 PASS AC=40;AF=0.324481;AN=214;NS=2504;DP=17276;EAS_AF=0.5069;AMR_AF=0.2291;AFR_AF=0.3192;EUR_AF=0.1869;SAS_AF=0.3528;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.324481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1367676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2511;AF_popmax=0.5329;AF_male=0.2511;AF_female=0.2510;AF_raw=0.2514;AF_afr=0.2980;AF_sas=.;AF_amr=0.2589;AF_eas=0.5329;AF_nfe=0.1890;AF_fin=0.2885;AF_asj=0.1931;AF_oth=0.2417;non_topmed_AF_popmax=0.5338;non_neuro_AF_popmax=0.5329;non_cancer_AF_popmax=.;controls_AF_popmax=0.5428;Kaviar_AF=0.0413578;Kaviar_AC=6394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.014060;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123594217 rs531233884 G A 100 PASS AC=5;AF=0.00219649;AN=214;NS=2504;DP=15210;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531233884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0044;AF_popmax=0.0055;AF_male=0.0043;AF_female=0.0045;AF_raw=0.0044;AF_afr=0.0006;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0121;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.003381;Kaviar_AC=88;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 123594426 rs187029339 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=13611;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187029339;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0027;AF_popmax=0.0038;AF_male=0.0022;AF_female=0.0032;AF_raw=0.0027;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0041;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123594510 rs147062785 T TA 100 PASS AC=40;AF=0.262979;AN=214;NS=2504;DP=12974;EAS_AF=0.5069;AMR_AF=0.2104;AFR_AF=0.0946;EUR_AF=0.1859;SAS_AF=0.3558;AA=AAAAA|AAAA|AAAAA|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:exon28:c.1598-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.262979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147062785;CLNALLELEID=229391;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1584;ExAC_nontcga_ALL=0.2913;ExAC_nontcga_AFR=0.1186;ExAC_nontcga_AMR=0.2445;ExAC_nontcga_EAS=0.5531;ExAC_nontcga_FIN=0.2940;ExAC_nontcga_NFE=0.2173;ExAC_nontcga_OTH=0.2683;ExAC_nontcga_SAS=0.3308;AF=0.1923;AF_popmax=0.5344;AF_male=0.1914;AF_female=0.1934;AF_raw=0.1924;AF_afr=0.0913;AF_sas=.;AF_amr=0.2344;AF_eas=0.5344;AF_nfe=0.1884;AF_fin=0.2880;AF_asj=0.1931;AF_oth=0.2342;non_topmed_AF_popmax=0.5352;non_neuro_AF_popmax=0.5344;non_cancer_AF_popmax=.;controls_AF_popmax=0.5475;Kaviar_AF=0.0025097;Kaviar_AC=388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.750889;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123594634 rs559902198 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13199;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559902198;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123595869 rs2873478 A C 100 PASS AC=40;AF=0.263179;AN=214;NS=2504;DP=14111;EAS_AF=0.5069;AMR_AF=0.2104;AFR_AF=0.0946;EUR_AF=0.1859;SAS_AF=0.3569;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.263179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2873478;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1708;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1924;AF_popmax=0.5324;AF_male=0.1912;AF_female=0.1938;AF_raw=0.1926;AF_afr=0.0912;AF_sas=.;AF_amr=0.2358;AF_eas=0.5324;AF_nfe=0.1886;AF_fin=0.2889;AF_asj=0.1931;AF_oth=0.2325;non_topmed_AF_popmax=0.5332;non_neuro_AF_popmax=0.5324;non_cancer_AF_popmax=.;controls_AF_popmax=0.5450;Kaviar_AF=0.0054941;Kaviar_AC=143;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123599505 rs55704802 A C 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=13750;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55704802;CLNALLELEID=229393;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0137;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0175;ExAC_nontcga_OTH=0.0120;ExAC_nontcga_SAS=0.0005;AF=0.0048;AF_popmax=0.0077;AF_male=0.0054;AF_female=0.0041;AF_raw=0.0048;AF_afr=0.0015;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0020;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0123;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.417645;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123600184 rs369584691 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15122;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369584691;CLNALLELEID=368688;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.134e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.105353;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123600356 rs577358676 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15140;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577358676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123653127 rs367768556 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17138;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367768556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0053;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0055;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123658671 rs1157133 T C 100 PASS AC=58;AF=0.222843;AN=214;NS=2504;DP=12878;EAS_AF=0.1508;AMR_AF=0.2032;AFR_AF=0.1846;EUR_AF=0.3082;SAS_AF=0.2751;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.222843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1157133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2765;AF_popmax=0.3058;AF_male=0.2712;AF_female=0.2831;AF_raw=0.2771;AF_afr=0.2170;AF_sas=.;AF_amr=0.1988;AF_eas=0.1399;AF_nfe=0.3058;AF_fin=0.3737;AF_asj=0.1966;AF_oth=0.3094;non_topmed_AF_popmax=0.3137;non_neuro_AF_popmax=0.3051;non_cancer_AF_popmax=.;controls_AF_popmax=0.3276;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 +6 123658680 rs12216080 A G 100 PASS AC=104;AF=0.305511;AN=214;NS=2504;DP=12806;EAS_AF=0.1379;AMR_AF=0.487;AFR_AF=0.3457;EUR_AF=0.4344;SAS_AF=0.1626;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12216080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3744;AF_popmax=0.4538;AF_male=0.3790;AF_female=0.3686;AF_raw=0.3742;AF_afr=0.3544;AF_sas=.;AF_amr=0.4538;AF_eas=0.1538;AF_nfe=0.4198;AF_fin=0.2893;AF_asj=0.5069;AF_oth=0.3778;non_topmed_AF_popmax=0.4541;non_neuro_AF_popmax=0.4545;non_cancer_AF_popmax=.;controls_AF_popmax=0.4669;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 1|1 0|0 1|0 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 1|0 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|0 +6 123658825 rs9401658 G T 100 PASS AC=40;AF=0.29373;AN=214;NS=2504;DP=14034;EAS_AF=0.6111;AMR_AF=0.245;AFR_AF=0.0688;EUR_AF=0.1769;SAS_AF=0.4254;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.29373;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9401658;CLNALLELEID=229396;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0022;dbscSNV_RF_SCORE=0.212;esp6500siv2_ea=0.1503;ExAC_nontcga_ALL=0.2989;ExAC_nontcga_AFR=0.0927;ExAC_nontcga_AMR=0.2782;ExAC_nontcga_EAS=0.6088;ExAC_nontcga_FIN=0.3452;ExAC_nontcga_NFE=0.2001;ExAC_nontcga_OTH=0.2929;ExAC_nontcga_SAS=0.3767;AF=0.1928;AF_popmax=0.6127;AF_male=0.1936;AF_female=0.1919;AF_raw=0.1931;AF_afr=0.0839;AF_sas=.;AF_amr=0.2905;AF_eas=0.6127;AF_nfe=0.1880;AF_fin=0.2652;AF_asj=0.1931;AF_oth=0.2306;non_topmed_AF_popmax=0.6129;non_neuro_AF_popmax=0.6127;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.0758722;Kaviar_AC=11730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.733696;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123673628 rs17736964 C T 100 PASS AC=11;AF=0.00898562;AN=214;NS=2504;DP=17830;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0328;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17736964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0298;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0062;AF=0.0310;AF_popmax=0.0474;AF_male=0.0296;AF_female=0.0329;AF_raw=0.0311;AF_afr=0.0065;AF_sas=.;AF_amr=0.0261;AF_eas=0;AF_nfe=0.0474;AF_fin=0.0314;AF_asj=0.0414;AF_oth=0.0405;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0473;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804325;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17736964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0298;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0062;AF=0.0310;AF_popmax=0.0474;AF_male=0.0296;AF_female=0.0329;AF_raw=0.0311;AF_afr=0.0065;AF_sas=.;AF_amr=0.0261;AF_eas=0;AF_nfe=0.0474;AF_fin=0.0314;AF_asj=0.0414;AF_oth=0.0405;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0473;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804325;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123673672 rs537388823 A AT 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18311;EAS_AF=0;AMR_AF=0;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=TRDN:NM_001251987:exon21:c.1383dupA:p.X462delinsM;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537388823;CLNALLELEID=229397;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0015;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0046;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.832957;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=TRDN:NM_001251987:exon21:c.1383dupA:p.X462delinsM;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537388823;CLNALLELEID=229397;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0015;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0046;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.832957;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123687288 rs2873479 A C 100 PASS AC=202;AF=0.939297;AN=214;NS=2504;DP=16513;EAS_AF=0.9196;AMR_AF=0.951;AFR_AF=0.9644;EUR_AF=0.9215;SAS_AF=0.9356;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S;1000g2015aug_all=0.939297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2873479;CLNALLELEID=229399;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.415;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.237;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.191;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=2.29;FATHMM_converted_rankscore=0.171;FATHMM_pred=T;PROVEAN_score=0.52;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.929;MetaSVM_rankscore=0.442;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.022;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.489;CADD_raw_rankscore=0.141;CADD_phred=7.345;DANN_score=0.689;DANN_rankscore=0.085;fathmm-MKL_coding_score=0.535;fathmm-MKL_coding_rankscore=0.291;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.879;Eigen-PC-raw=-0.685;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.68;GERP++_RS_rankscore=0.582;phyloP100way_vertebrate=2.383;phyloP100way_vertebrate_rankscore=0.438;phyloP20way_mammalian=-0.285;phyloP20way_mammalian_rankscore=0.084;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.177;phastCons20way_mammalian_rankscore=0.212;SiPhy_29way_logOdds=7.740;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9156;ExAC_nontcga_ALL=0.9250;ExAC_nontcga_AFR=0.9522;ExAC_nontcga_AMR=0.9678;ExAC_nontcga_EAS=0.9153;ExAC_nontcga_FIN=0.9160;ExAC_nontcga_NFE=0.9100;ExAC_nontcga_OTH=0.9362;ExAC_nontcga_SAS=0.9392;AF=0.9283;AF_popmax=0.9645;AF_male=0.9290;AF_female=0.9275;AF_raw=0.9282;AF_afr=0.9490;AF_sas=.;AF_amr=0.9645;AF_eas=0.9190;AF_nfe=0.9148;AF_fin=0.9323;AF_asj=0.8966;AF_oth=0.9366;non_topmed_AF_popmax=0.9641;non_neuro_AF_popmax=0.9621;non_cancer_AF_popmax=.;controls_AF_popmax=0.9594;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.593905;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 123687318 rs371336992 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.G1286A:p.R429Q,TRDN:NM_006073:exon20:c.G1283A:p.R428Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371336992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.409;SIFT_converted_rankscore=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.246;Polyphen2_HDIV_rankscore=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.208;LRT_converted_rankscore=0.164;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.202;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=2.09;FATHMM_converted_rankscore=0.201;FATHMM_pred=T;PROVEAN_score=0.14;PROVEAN_converted_rankscore=0.054;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.143;MetaSVM_score=-0.946;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.025;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.250;M-CAP_pred=T;REVEL_score=0.007;REVEL_rankscore=0.005;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.244;CADD_raw_rankscore=0.331;CADD_phred=17.80;DANN_score=0.995;DANN_rankscore=0.697;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_rankscore=0.153;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.949;Eigen-PC-raw=-0.862;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=-0.432;phyloP100way_vertebrate_rankscore=0.070;phyloP20way_mammalian=-0.820;phyloP20way_mammalian_rankscore=0.031;phastCons100way_vertebrate=0.176;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=4.662;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.933e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.761e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.558e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.187e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.504067;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123687432 rs7769808 T C 100 PASS AC=202;AF=0.954473;AN=214;NS=2504;DP=16289;EAS_AF=0.994;AMR_AF=0.951;AFR_AF=0.9614;EUR_AF=0.9215;SAS_AF=0.9407;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.954473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7769808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9319;AF_popmax=0.9923;AF_male=0.9329;AF_female=0.9307;AF_raw=0.9318;AF_afr=0.9488;AF_sas=.;AF_amr=0.9645;AF_eas=0.9923;AF_nfe=0.9147;AF_fin=0.9321;AF_asj=0.8966;AF_oth=0.9384;non_topmed_AF_popmax=0.9921;non_neuro_AF_popmax=0.9923;non_cancer_AF_popmax=.;controls_AF_popmax=0.9945;Kaviar_AF=0.177637;Kaviar_AC=27463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.236441;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 123696766 rs17737379 G T 100 PASS AC=32;AF=0.147364;AN=214;NS=2504;DP=15478;EAS_AF=0.0665;AMR_AF=0.1196;AFR_AF=0.3116;EUR_AF=0.1312;SAS_AF=0.045;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon19:c.C1260A:p.D420E,TRDN:NM_006073:exon19:c.C1257A:p.D419E;1000g2015aug_all=0.147364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17737379;CLNALLELEID=229401;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.327;LRT_converted_rankscore=0.142;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=2.57;FATHMM_converted_rankscore=0.136;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.910;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.069;REVEL_rankscore=0.206;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.783;CADD_raw_rankscore=0.169;CADD_phred=9.356;DANN_score=0.425;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_rankscore=0.045;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.057;Eigen-PC-raw=-0.785;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.14;GERP++_RS_rankscore=0.477;phyloP100way_vertebrate=0.616;phyloP100way_vertebrate_rankscore=0.239;phyloP20way_mammalian=-0.339;phyloP20way_mammalian_rankscore=0.072;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=9.685;SiPhy_29way_logOdds_rankscore=0.391;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1188;ExAC_nontcga_ALL=0.1296;ExAC_nontcga_AFR=0.3072;ExAC_nontcga_AMR=0.1353;ExAC_nontcga_EAS=0.0995;ExAC_nontcga_FIN=0.1567;ExAC_nontcga_NFE=0.1469;ExAC_nontcga_OTH=0.1429;ExAC_nontcga_SAS=0.0729;AF=0.1736;AF_popmax=0.2921;AF_male=0.1720;AF_female=0.1755;AF_raw=0.1737;AF_afr=0.2921;AF_sas=.;AF_amr=0.1283;AF_eas=0.0629;AF_nfe=0.1292;AF_fin=0.1454;AF_asj=0.1379;AF_oth=0.1492;non_topmed_AF_popmax=0.2919;non_neuro_AF_popmax=0.2894;non_cancer_AF_popmax=.;controls_AF_popmax=0.2895;Kaviar_AF=0.0677352;Kaviar_AC=10472;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.15458::0.387354;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738983;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123698748 rs549633646 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17941;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549633646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123699019 rs28494009 A C 100 PASS AC=23;AF=0.169129;AN=214;NS=2504;DP=15873;EAS_AF=0.1042;AMR_AF=0.098;AFR_AF=0.2088;EUR_AF=0.173;SAS_AF=0.229;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.T1214G:p.V405G,TRDN:NM_006073:exon17:c.T1211G:p.V404G;1000g2015aug_all=0.169129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28494009;CLNALLELEID=229402;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.139;LRT_converted_rankscore=0.029;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_converted_rankscore=0.273;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_converted_rankscore=0.131;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.130;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.024;REVEL_rankscore=0.052;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.548;CADD_raw_rankscore=0.367;CADD_phred=19.78;DANN_score=0.988;DANN_rankscore=0.462;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-0.963;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-0.351;GERP++_RS_rankscore=0.119;phyloP100way_vertebrate=0.025;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=3.708;SiPhy_29way_logOdds_rankscore=0.079;Interpro_domain=.;GTEx_V6p_gene=ENSG00000235535.3;GTEx_V6p_tissue=Heart_Atrial_Appendage;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.2445;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2396;ExAC_nontcga_NFE=0.1874;ExAC_nontcga_OTH=0.1951;ExAC_nontcga_SAS=0.2567;AF=0.1743;AF_popmax=0.2013;AF_male=0.1716;AF_female=0.1777;AF_raw=0.1747;AF_afr=0.2013;AF_sas=.;AF_amr=0.0831;AF_eas=0.0757;AF_nfe=0.1681;AF_fin=0.2083;AF_asj=0.0625;AF_oth=0.1805;non_topmed_AF_popmax=0.2017;non_neuro_AF_popmax=0.2079;non_cancer_AF_popmax=.;controls_AF_popmax=0.2047;Kaviar_AF=0.133937;Kaviar_AC=20707;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.171103::-0.428802;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591453;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.T1214G:p.V405G,TRDN:NM_006073:exon17:c.T1211G:p.V404G;1000g2015aug_all=0.169129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28494009;CLNALLELEID=229402;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.139;LRT_converted_rankscore=0.029;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_converted_rankscore=0.273;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_converted_rankscore=0.131;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.130;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.024;REVEL_rankscore=0.052;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.548;CADD_raw_rankscore=0.367;CADD_phred=19.78;DANN_score=0.988;DANN_rankscore=0.462;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-0.963;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-0.351;GERP++_RS_rankscore=0.119;phyloP100way_vertebrate=0.025;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=3.708;SiPhy_29way_logOdds_rankscore=0.079;Interpro_domain=.;GTEx_V6p_gene=ENSG00000235535.3;GTEx_V6p_tissue=Heart_Atrial_Appendage;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.2445;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2396;ExAC_nontcga_NFE=0.1874;ExAC_nontcga_OTH=0.1951;ExAC_nontcga_SAS=0.2567;AF=0.1743;AF_popmax=0.2013;AF_male=0.1716;AF_female=0.1777;AF_raw=0.1747;AF_afr=0.2013;AF_sas=.;AF_amr=0.0831;AF_eas=0.0757;AF_nfe=0.1681;AF_fin=0.2083;AF_asj=0.0625;AF_oth=0.1805;non_topmed_AF_popmax=0.2017;non_neuro_AF_popmax=0.2079;non_cancer_AF_popmax=.;controls_AF_popmax=0.2047;Kaviar_AF=0.133937;Kaviar_AC=20707;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.171103::-0.428802;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591453;ALLELE_END GT 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 123699042 rs6901953 T C 100 PASS AC=91;AF=0.272165;AN=214;NS=2504;DP=14839;EAS_AF=0.1012;AMR_AF=0.4251;AFR_AF=0.3434;EUR_AF=0.3678;SAS_AF=0.1452;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.A1191G:p.K397K,TRDN:NM_006073:exon17:c.A1188G:p.K396K;1000g2015aug_all=0.272165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6901953;CLNALLELEID=229404;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0023;dbscSNV_RF_SCORE=0.126;esp6500siv2_ea=0.3635;ExAC_nontcga_ALL=0.3289;ExAC_nontcga_AFR=0.3904;ExAC_nontcga_AMR=0.4928;ExAC_nontcga_EAS=0.1828;ExAC_nontcga_FIN=0.3201;ExAC_nontcga_NFE=0.4458;ExAC_nontcga_OTH=0.3235;ExAC_nontcga_SAS=0.1966;AF=0.3361;AF_popmax=0.4064;AF_male=0.3391;AF_female=0.3322;AF_raw=0.3360;AF_afr=0.3418;AF_sas=.;AF_amr=0.4064;AF_eas=0.1147;AF_nfe=0.3632;AF_fin=0.2794;AF_asj=0.4207;AF_oth=0.3269;non_topmed_AF_popmax=0.4082;non_neuro_AF_popmax=0.4094;non_cancer_AF_popmax=.;controls_AF_popmax=0.4262;Kaviar_AF=0.244874;Kaviar_AC=37858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.594866;ALLELE_END GT 0|1 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 +6 123702499 rs3813328 G A 100 PASS AC=64;AF=0.476238;AN=214;NS=2504;DP=17172;EAS_AF=0.752;AMR_AF=0.3501;AFR_AF=0.2587;EUR_AF=0.3598;SAS_AF=0.6953;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813328;CLNALLELEID=252069;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3270;ExAC_nontcga_ALL=0.5003;ExAC_nontcga_AFR=0.3168;ExAC_nontcga_AMR=0.5;ExAC_nontcga_EAS=0.7422;ExAC_nontcga_FIN=0.4913;ExAC_nontcga_NFE=0.3762;ExAC_nontcga_OTH=0.4292;ExAC_nontcga_SAS=0.6482;AF=0.3674;AF_popmax=0.7436;AF_male=0.3648;AF_female=0.3708;AF_raw=0.3672;AF_afr=0.2591;AF_sas=.;AF_amr=0.3756;AF_eas=0.7436;AF_nfe=0.3621;AF_fin=0.4870;AF_asj=0.2414;AF_oth=0.4153;non_topmed_AF_popmax=0.7431;non_neuro_AF_popmax=0.7436;non_cancer_AF_popmax=.;controls_AF_popmax=0.7489;Kaviar_AF=0.0020116;Kaviar_AC=311;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.360236::-0.285219;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329527;ALLELE_END GT 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|1 1|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 1|0 1|1 +6 123702587 rs34907562 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=16413;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34907562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0079;AF_popmax=0.0095;AF_male=0.0064;AF_female=0.0099;AF_raw=0.0080;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0239;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0018057;Kaviar_AC=47;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.331548;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123702642 rs9482382 T G 100 PASS AC=32;AF=0.120807;AN=214;NS=2504;DP=16533;EAS_AF=0.0655;AMR_AF=0.121;AFR_AF=0.2103;EUR_AF=0.1322;SAS_AF=0.045;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9482382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1508;AF_popmax=0.2073;AF_male=0.1491;AF_female=0.1528;AF_raw=0.1508;AF_afr=0.2073;AF_sas=.;AF_amr=0.1285;AF_eas=0.0628;AF_nfe=0.1304;AF_fin=0.1456;AF_asj=0.1552;AF_oth=0.1460;non_topmed_AF_popmax=0.2073;non_neuro_AF_popmax=0.2053;non_cancer_AF_popmax=.;controls_AF_popmax=0.2041;Kaviar_AF=0.124635;Kaviar_AC=3244;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.146947::0.409459;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.262537;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123703168 rs56239280 C T 100 PASS AC=32;AF=0.120807;AN=214;NS=2504;DP=12763;EAS_AF=0.0655;AMR_AF=0.121;AFR_AF=0.2103;EUR_AF=0.1322;SAS_AF=0.045;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56239280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1499;AF_popmax=0.2064;AF_male=0.1485;AF_female=0.1517;AF_raw=0.1501;AF_afr=0.2064;AF_sas=.;AF_amr=0.1244;AF_eas=0.0632;AF_nfe=0.1298;AF_fin=0.1435;AF_asj=0.1552;AF_oth=0.1450;non_topmed_AF_popmax=0.2064;non_neuro_AF_popmax=0.2048;non_cancer_AF_popmax=.;controls_AF_popmax=0.2044;Kaviar_AF=0.123982;Kaviar_AC=3227;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123714764 rs41284430 C T 100 PASS AC=13;AF=0.0163738;AN=214;NS=2504;DP=16046;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0015;EUR_AF=0.0517;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284430;CLNALLELEID=229405;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.4824;dbscSNV_RF_SCORE=0.506;esp6500siv2_ea=0.0483;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.0406;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0478;ExAC_nontcga_NFE=0.0916;ExAC_nontcga_OTH=0.0556;ExAC_nontcga_SAS=0.0156;AF=0.0316;AF_popmax=0.0476;AF_male=0.0315;AF_female=0.0317;AF_raw=0.0316;AF_afr=0.0087;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0476;AF_fin=0.0337;AF_asj=0.0276;AF_oth=0.0386;non_topmed_AF_popmax=0.0464;non_neuro_AF_popmax=0.0482;non_cancer_AF_popmax=.;controls_AF_popmax=0.0418;Kaviar_AF=0.0323023;Kaviar_AC=4994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.795319;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123714938 rs143901107 C T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=15585;EAS_AF=0.005;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143901107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0088;AF_male=0.0018;AF_female=0.0032;AF_raw=0.0025;AF_afr=0.0088;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.0013447;Kaviar_AC=35;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123818365 rs150412658 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14512;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon9:c.A826G:p.I276V,TRDN:NM_006073:exon9:c.A826G:p.I276V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150412658;CLNALLELEID=560564;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.426;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.153;VEST3_rankscore=0.193;MetaSVM_score=-1.041;MetaSVM_rankscore=0.171;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.307;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.295;M-CAP_pred=T;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.195;CADD_raw_rankscore=0.113;CADD_phred=4.626;DANN_score=0.637;DANN_rankscore=0.071;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.531;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.103;Eigen-PC-raw=0.144;GenoCanyon_score=0.180;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=3.615;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.79;SiPhy_29way_logOdds_rankscore=0.693;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.874300;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +6 123833457 rs6902416 G C 100 PASS AC=178;AF=0.843251;AN=214;NS=2504;DP=13677;EAS_AF=0.878;AMR_AF=0.8674;AFR_AF=0.7965;EUR_AF=0.8588;SAS_AF=0.8374;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V;1000g2015aug_all=0.843251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6902416;CLNALLELEID=229411;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_converted_rankscore=0.038;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_score_rankscore=0.008;MutationAssessor_pred=N;FATHMM_score=1.56;FATHMM_converted_rankscore=0.800;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_converted_rankscore=0.096;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.178;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.289;CADD_raw_rankscore=0.069;CADD_phred=0.705;DANN_score=0.215;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.015;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.549;Eigen-PC-raw=-1.493;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=-3.38;GERP++_RS_rankscore=0.045;phyloP100way_vertebrate=-1.197;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.330;phyloP20way_mammalian_rankscore=0.013;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.776;phastCons20way_mammalian_rankscore=0.329;SiPhy_29way_logOdds=1.908;SiPhy_29way_logOdds_rankscore=0.031;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8615;ExAC_nontcga_ALL=0.8234;ExAC_nontcga_AFR=0.7730;ExAC_nontcga_AMR=0.8450;ExAC_nontcga_EAS=0.8572;ExAC_nontcga_FIN=0.8518;ExAC_nontcga_NFE=0.8257;ExAC_nontcga_OTH=0.8088;ExAC_nontcga_SAS=0.8110;AF=0.8512;AF_popmax=0.8920;AF_male=0.8494;AF_female=0.8534;AF_raw=0.8508;AF_afr=0.8011;AF_sas=.;AF_amr=0.8833;AF_eas=0.8920;AF_nfe=0.8670;AF_fin=0.8836;AF_asj=0.8069;AF_oth=0.8534;non_topmed_AF_popmax=0.8906;non_neuro_AF_popmax=0.8920;non_cancer_AF_popmax=.;controls_AF_popmax=0.8958;Kaviar_AF=0.793101;Kaviar_AC=122615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.390978;ALLELE_END GT 1|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 +6 123837214 rs141614347 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16401;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141614347;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123837416 rs139843763 G A 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=15215;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0083;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139843763;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0034;AF_male=0.0011;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0034;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.492e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123851590 rs12198164 G A 100 PASS AC=133;AF=0.497804;AN=214;NS=2504;DP=11274;EAS_AF=0.373;AMR_AF=0.6614;AFR_AF=0.3812;EUR_AF=0.6551;SAS_AF=0.5061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.497804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12198164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5649;AF_popmax=0.6421;AF_male=0.5596;AF_female=0.5715;AF_raw=0.5647;AF_afr=0.4350;AF_sas=.;AF_amr=0.5917;AF_eas=0.3377;AF_nfe=0.6421;AF_fin=0.6355;AF_asj=0.5552;AF_oth=0.6030;non_topmed_AF_popmax=0.6388;non_neuro_AF_popmax=0.6419;non_cancer_AF_popmax=.;controls_AF_popmax=0.6335;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 +6 123851610 rs12198167 G A 100 PASS AC=133;AF=0.497404;AN=214;NS=2504;DP=11265;EAS_AF=0.373;AMR_AF=0.6614;AFR_AF=0.3797;EUR_AF=0.6551;SAS_AF=0.5061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.497404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12198167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5351;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.6643;ExAC_nontcga_EAS=0.3481;ExAC_nontcga_FIN=0.5938;ExAC_nontcga_NFE=0.5937;ExAC_nontcga_OTH=0.5678;ExAC_nontcga_SAS=0.5253;AF=0.5642;AF_popmax=0.6413;AF_male=0.5591;AF_female=0.5705;AF_raw=0.5643;AF_afr=0.4343;AF_sas=.;AF_amr=0.5942;AF_eas=0.3364;AF_nfe=0.6413;AF_fin=0.6330;AF_asj=0.5552;AF_oth=0.6011;non_topmed_AF_popmax=0.6377;non_neuro_AF_popmax=0.6411;non_cancer_AF_popmax=.;controls_AF_popmax=0.6329;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 +6 123851757 rs567570964 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567570964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.479e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123868506 rs192289289 C T 100 PASS AC=4;AF=0.00279553;AN=214;NS=2504;DP=12666;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon4:c.G403A:p.E135K,TRDN:NM_001256020:exon4:c.G403A:p.E135K,TRDN:NM_001256021:exon4:c.G403A:p.E135K,TRDN:NM_001256022:exon4:c.G403A:p.E135K,TRDN:NM_006073:exon4:c.G403A:p.E135K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192289289;CLNALLELEID=229414;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.587;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.225;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_converted_rankscore=0.311;LRT_pred=N;MutationTaster_score=0.529;MutationTaster_converted_rankscore=0.319;MutationTaster_pred=D;MutationAssessor_score=2.135;MutationAssessor_score_rankscore=0.597;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-1.12;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.522;VEST3_rankscore=0.760;MetaSVM_score=-0.601;MetaSVM_rankscore=0.648;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_rankscore=0.680;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.246;REVEL_rankscore=0.558;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.510;CADD_raw_rankscore=0.604;CADD_phred=24.3;DANN_score=0.996;DANN_rankscore=0.754;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.585;Eigen-PC-raw=0.610;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.391;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=3.758;phyloP100way_vertebrate_rankscore=0.547;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.678;SiPhy_29way_logOdds_rankscore=0.851;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0082;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0069;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0114;ExAC_nontcga_SAS=0.0016;AF=0.0090;AF_popmax=0.0138;AF_male=0.0089;AF_female=0.0091;AF_raw=0.0089;AF_afr=0.0026;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0138;AF_fin=0.0087;AF_asj=0;AF_oth=0.0120;non_topmed_AF_popmax=0.0144;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0135;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.440747;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 123869607 rs9490809 G C 100 PASS AC=114;AF=0.392971;AN=214;NS=2504;DP=16140;EAS_AF=0.0813;AMR_AF=0.3372;AFR_AF=0.5363;EUR_AF=0.5298;SAS_AF=0.4192;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C383G:p.T128S,TRDN:NM_001256020:exon3:c.C383G:p.T128S,TRDN:NM_001256021:exon3:c.C383G:p.T128S,TRDN:NM_001256022:exon3:c.C383G:p.T128S,TRDN:NM_006073:exon3:c.C383G:p.T128S;1000g2015aug_all=0.392971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9490809;CLNALLELEID=229415;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.434;SIFT_converted_rankscore=0.106;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.461;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.440;Polyphen2_HVAR_pred=B;LRT_score=0.362;LRT_converted_rankscore=0.043;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.58;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.078;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.361;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.436;CADD_raw_rankscore=0.059;CADD_phred=0.316;DANN_score=0.239;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.347;fathmm-MKL_coding_rankscore=0.249;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.648;Eigen-PC-raw=-0.672;GenoCanyon_score=0.027;GenoCanyon_score_rankscore=0.138;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.97;GERP++_RS_rankscore=0.252;phyloP100way_vertebrate=-0.081;phyloP100way_vertebrate_rankscore=0.112;phyloP20way_mammalian=0.084;phyloP20way_mammalian_rankscore=0.191;phastCons100way_vertebrate=0.411;phastCons100way_vertebrate_rankscore=0.260;phastCons20way_mammalian=0.458;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=4.223;SiPhy_29way_logOdds_rankscore=0.099;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5375;ExAC_nontcga_ALL=0.4897;ExAC_nontcga_AFR=0.5421;ExAC_nontcga_AMR=0.3048;ExAC_nontcga_EAS=0.1007;ExAC_nontcga_FIN=0.5886;ExAC_nontcga_NFE=0.5689;ExAC_nontcga_OTH=0.5234;ExAC_nontcga_SAS=0.4483;AF=0.5055;AF_popmax=0.5358;AF_male=0.4999;AF_female=0.5125;AF_raw=0.5050;AF_afr=0.5358;AF_sas=.;AF_amr=0.3218;AF_eas=0.0643;AF_nfe=0.5248;AF_fin=0.5839;AF_asj=0.5174;AF_oth=0.5120;non_topmed_AF_popmax=0.5353;non_neuro_AF_popmax=0.5395;non_cancer_AF_popmax=.;controls_AF_popmax=0.5371;Kaviar_AF=0.421152;Kaviar_AC=65111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.257118;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 1|1 1|0 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 +6 123869615 rs377440434 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16007;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C375T:p.D125D,TRDN:NM_001256020:exon3:c.C375T:p.D125D,TRDN:NM_001256021:exon3:c.C375T:p.D125D,TRDN:NM_001256022:exon3:c.C375T:p.D125D,TRDN:NM_006073:exon3:c.C375T:p.D125D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377440434;CLNALLELEID=258432;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0006;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.293686;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123869769 rs66509682 TAA T 100 PASS AC=123;AF=0.500599;AN=214;NS=2504;DP=18777;EAS_AF=0.1419;AMR_AF=0.3963;AFR_AF=0.8094;EUR_AF=0.5726;SAS_AF=0.453;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.500599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66509682;CLNALLELEID=305897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4918;ExAC_nontcga_AFR=0.5577;ExAC_nontcga_AMR=0.4588;ExAC_nontcga_EAS=0.2258;ExAC_nontcga_FIN=0.6481;ExAC_nontcga_NFE=0.5416;ExAC_nontcga_OTH=0.5111;ExAC_nontcga_SAS=0.4156;AF=0.5578;AF_popmax=0.6255;AF_male=0.5518;AF_female=0.5654;AF_raw=0.5264;AF_afr=0.6255;AF_sas=.;AF_amr=0.3786;AF_eas=0.1435;AF_nfe=0.5587;AF_fin=0.6119;AF_asj=0.5682;AF_oth=0.5493;non_topmed_AF_popmax=0.6256;non_neuro_AF_popmax=0.6284;non_cancer_AF_popmax=.;controls_AF_popmax=0.6281;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.931712,99.435288;ALLELE_END GT 0|0 1|0 0|1 1|0 0|0 1|1 1|1 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 +6 123892001 rs2145735 G A 100 PASS AC=78;AF=0.495807;AN=214;NS=2504;DP=17790;EAS_AF=0.8284;AMR_AF=0.5879;AFR_AF=0.2632;EUR_AF=0.3648;SAS_AF=0.5368;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.495807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2145735;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3865;AF_popmax=0.8608;AF_male=0.3916;AF_female=0.3801;AF_raw=0.3865;AF_afr=0.2697;AF_sas=.;AF_amr=0.6076;AF_eas=0.8608;AF_nfe=0.3950;AF_fin=0.3646;AF_asj=0.4069;AF_oth=0.4154;non_topmed_AF_popmax=0.8626;non_neuro_AF_popmax=0.8608;non_cancer_AF_popmax=.;controls_AF_popmax=0.8435;Kaviar_AF=0.0840998;Kaviar_AC=13002;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 1|1 0|1 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|1 0|0 1|1 0|0 1|0 1|0 +6 123892044 rs12193784 A G 100 PASS AC=23;AF=0.0467252;AN=214;NS=2504;DP=17613;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.0287;EUR_AF=0.0805;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0467252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12193784;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0938;ExAC_nontcga_ALL=0.0702;ExAC_nontcga_AFR=0.0370;ExAC_nontcga_AMR=0.0424;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0619;ExAC_nontcga_NFE=0.0948;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.0601;AF=0.0592;AF_popmax=0.0785;AF_male=0.0593;AF_female=0.0590;AF_raw=0.0592;AF_afr=0.0310;AF_sas=.;AF_amr=0.0778;AF_eas=0;AF_nfe=0.0785;AF_fin=0.0584;AF_asj=0.1379;AF_oth=0.0625;non_topmed_AF_popmax=0.0765;non_neuro_AF_popmax=0.0957;non_cancer_AF_popmax=.;controls_AF_popmax=0.1098;Kaviar_AF=0.068285;Kaviar_AC=10557;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.413899;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 123892337 rs2295732 G A 100 PASS AC=90;AF=0.24361;AN=214;NS=2504;DP=19141;EAS_AF=0.0536;AMR_AF=0.2522;AFR_AF=0.3676;EUR_AF=0.3519;SAS_AF=0.1544;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.24361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3319;AF_popmax=0.4079;AF_male=0.3307;AF_female=0.3335;AF_raw=0.3319;AF_afr=0.4079;AF_sas=.;AF_amr=0.2323;AF_eas=0.0611;AF_nfe=0.3335;AF_fin=0.2879;AF_asj=0.3759;AF_oth=0.2952;non_topmed_AF_popmax=0.4076;non_neuro_AF_popmax=0.4104;non_cancer_AF_popmax=.;controls_AF_popmax=0.4019;Kaviar_AF=0.0606331;Kaviar_AC=9374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.708252;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|0 1|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 +6 123957876 rs561111855 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20141;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561111855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.585e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.247e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=6.49e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000803992|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.261590;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129371106 rs1140366 C T 100 PASS AC=40;AF=0.0706869;AN=214;NS=2504;DP=17055;EAS_AF=0.125;AMR_AF=0.0749;AFR_AF=0.0015;EUR_AF=0.1282;SAS_AF=0.046;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon2:c.C156T:p.I52I,LAMA2:NM_001079823:exon2:c.C156T:p.I52I;1000g2015aug_all=0.0706869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1140366;CLNALLELEID=98845;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1164;ExAC_nontcga_ALL=0.0983;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.0596;ExAC_nontcga_EAS=0.1559;ExAC_nontcga_FIN=0.1022;ExAC_nontcga_NFE=0.1245;ExAC_nontcga_OTH=0.0893;ExAC_nontcga_SAS=0.0531;AF=0.0878;AF_popmax=0.1570;AF_male=0.0886;AF_female=0.0867;AF_raw=0.0878;AF_afr=0.0163;AF_sas=.;AF_amr=0.0697;AF_eas=0.1570;AF_nfe=0.1153;AF_fin=0.1022;AF_asj=0.1910;AF_oth=0.1105;non_topmed_AF_popmax=0.1590;non_neuro_AF_popmax=0.1570;non_cancer_AF_popmax=.;controls_AF_popmax=0.1729;Kaviar_AF=0.0988668;Kaviar_AC=15285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611828;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129381026 rs4404787 C A 100 PASS AC=208;AF=0.936701;AN=214;NS=2504;DP=18085;EAS_AF=0.9673;AMR_AF=0.9841;AFR_AF=0.8986;EUR_AF=0.9702;SAS_AF=0.8885;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T;1000g2015aug_all=0.936701;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4404787;CLNALLELEID=98862;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9699;ExAC_nontcga_ALL=0.9571;ExAC_nontcga_AFR=0.9034;ExAC_nontcga_AMR=0.9854;ExAC_nontcga_EAS=0.9736;ExAC_nontcga_FIN=0.9859;ExAC_nontcga_NFE=0.9708;ExAC_nontcga_OTH=0.9669;ExAC_nontcga_SAS=0.9023;AF=0.9540;AF_popmax=0.9787;AF_male=0.9531;AF_female=0.9550;AF_raw=0.9539;AF_afr=0.9027;AF_sas=.;AF_amr=0.9787;AF_eas=0.9769;AF_nfe=0.9718;AF_fin=0.9842;AF_asj=0.9655;AF_oth=0.9596;non_topmed_AF_popmax=0.9790;non_neuro_AF_popmax=0.9769;non_cancer_AF_popmax=.;controls_AF_popmax=0.9797;Kaviar_AF=0.948435;Kaviar_AC=146630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531499;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 129419454 rs148665727 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15943;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon4:c.C533T:p.T178M,LAMA2:NM_001079823:exon4:c.C533T:p.T178M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148665727;CLNALLELEID=560437;CLNDN=Laminin_alpha_2-related_dystrophy;CLNDISDB=MedGen:CN117977;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.817;Polyphen2_HVAR_rankscore=0.571;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.404;MutationTaster_pred=D;MutationAssessor_score=3.005;MutationAssessor_score_rankscore=0.862;MutationAssessor_pred=M;FATHMM_score=-0.98;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-3.89;PROVEAN_converted_rankscore=0.728;PROVEAN_pred=D;VEST3_score=0.298;VEST3_rankscore=0.358;MetaSVM_score=-0.174;MetaSVM_rankscore=0.783;MetaSVM_pred=T;MetaLR_score=0.410;MetaLR_rankscore=0.759;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.646;M-CAP_pred=D;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.755;CADD_raw_rankscore=0.638;CADD_phred=24.7;DANN_score=0.997;DANN_rankscore=0.781;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.554;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.218;Eigen-PC-raw=0.062;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.371;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=2.786;phyloP100way_vertebrate_rankscore=0.472;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.055;phastCons20way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=10.153;SiPhy_29way_logOdds_rankscore=0.418;Interpro_domain=Galactose-binding_domain-like|Laminin,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.201e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0002;AF_popmax=0.0006;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118695;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129419609 rs117988669 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18955;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117988669;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0034;AF_popmax=0.0053;AF_male=0.0035;AF_female=0.0032;AF_raw=0.0034;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0020;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.491023;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129465020 rs7754560 G A 100 PASS AC=34;AF=0.247404;AN=214;NS=2504;DP=15574;EAS_AF=0.1369;AMR_AF=0.1441;AFR_AF=0.4153;EUR_AF=0.2078;SAS_AF=0.2485;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7754560;CLNALLELEID=252071;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1932;ExAC_nontcga_ALL=0.2146;ExAC_nontcga_AFR=0.4032;ExAC_nontcga_AMR=0.1223;ExAC_nontcga_EAS=0.1470;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2016;ExAC_nontcga_OTH=0.2214;ExAC_nontcga_SAS=0.2548;AF=0.2442;AF_popmax=0.3927;AF_male=0.2456;AF_female=0.2424;AF_raw=0.2445;AF_afr=0.3927;AF_sas=.;AF_amr=0.1333;AF_eas=0.1432;AF_nfe=0.1892;AF_fin=0.2063;AF_asj=0.1828;AF_oth=0.2081;non_topmed_AF_popmax=0.3922;non_neuro_AF_popmax=0.3903;non_cancer_AF_popmax=.;controls_AF_popmax=0.3815;Kaviar_AF=0.193853;Kaviar_AC=29970;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.177285;ALLELE_END GT 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 +6 129468288 rs2279165 A T 100 PASS AC=34;AF=0.352236;AN=214;NS=2504;DP=16181;EAS_AF=0.1667;AMR_AF=0.1671;AFR_AF=0.7632;EUR_AF=0.2107;SAS_AF=0.2648;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2279165;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3340;AF_popmax=0.6984;AF_male=0.3389;AF_female=0.3279;AF_raw=0.3342;AF_afr=0.6984;AF_sas=.;AF_amr=0.1623;AF_eas=0.1795;AF_nfe=0.1915;AF_fin=0.2078;AF_asj=0.1840;AF_oth=0.2366;non_topmed_AF_popmax=0.6974;non_neuro_AF_popmax=0.6948;non_cancer_AF_popmax=.;controls_AF_popmax=0.6961;Kaviar_AF=0.0452129;Kaviar_AC=6990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000804985|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.371025;ALLELE_END GT 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 +6 129486657 rs187475772 C A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15677;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187475772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0094;AF_popmax=0.0092;AF_male=0.0085;AF_female=0.0105;AF_raw=0.0094;AF_afr=0.0022;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0092;AF_fin=0.0335;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.748327;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129486815 rs200097756 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16089;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon9:c.G1301A:p.R434Q,LAMA2:NM_001079823:exon9:c.G1301A:p.R434Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200097756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.764;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.969;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.01;MutationAssessor_score_rankscore=0.254;MutationAssessor_pred=L;FATHMM_score=1.49;FATHMM_converted_rankscore=0.315;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.065;VEST3_rankscore=0.147;MetaSVM_score=-0.968;MetaSVM_rankscore=0.375;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.069;M-CAP_pred=T;REVEL_score=0.006;REVEL_rankscore=0.004;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.655;CADD_raw_rankscore=0.156;CADD_phred=8.529;DANN_score=0.838;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.051;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.466;Eigen-PC-raw=-1.474;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.090;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-5.61;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-0.503;phyloP100way_vertebrate_rankscore=0.064;phyloP20way_mammalian=0.120;phyloP20way_mammalian_rankscore=0.210;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=4.512;SiPhy_29way_logOdds_rankscore=0.112;Interpro_domain=EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain|Laminin_EGF_domain\x3bEGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.327e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.346840;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129511373 rs2306220 T C 100 PASS AC=4;AF=0.0565096;AN=214;NS=2504;DP=19927;EAS_AF=0.1339;AMR_AF=0.013;AFR_AF=0.0166;EUR_AF=0.0189;SAS_AF=0.1002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon11:c.T1491C:p.C497C,LAMA2:NM_001079823:exon11:c.T1491C:p.C497C;1000g2015aug_all=0.0565096;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306220;CLNALLELEID=134879;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0343;ExAC_nontcga_AFR=0.0156;ExAC_nontcga_AMR=0.0180;ExAC_nontcga_EAS=0.1577;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0347;ExAC_nontcga_SAS=0.0701;AF=0.0204;AF_popmax=0.1658;AF_male=0.0215;AF_female=0.0189;AF_raw=0.0205;AF_afr=0.0145;AF_sas=.;AF_amr=0.0130;AF_eas=0.1658;AF_nfe=0.0089;AF_fin=0.0219;AF_asj=0.0241;AF_oth=0.0211;non_topmed_AF_popmax=0.1653;non_neuro_AF_popmax=0.1658;non_cancer_AF_popmax=.;controls_AF_popmax=0.1842;Kaviar_AF=0.0302325;Kaviar_AC=4674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329573;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129513850 rs118083923 T A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=14880;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon12:c.T1634A:p.L545Q,LAMA2:NM_001079823:exon12:c.T1634A:p.L545Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118083923;CLNALLELEID=98847;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.879;Polyphen2_HVAR_rankscore=0.606;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.349;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_score_rankscore=0.784;MutationAssessor_pred=M;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.807;VEST3_rankscore=0.796;MetaSVM_score=-0.781;MetaSVM_rankscore=0.563;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_rankscore=0.492;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.154;CADD_raw_rankscore=0.695;CADD_phred=25.4;DANN_score=0.996;DANN_rankscore=0.710;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.650;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.636;Eigen-PC-raw=0.601;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.42;GERP++_RS_rankscore=0.786;phyloP100way_vertebrate=3.906;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.894;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=15.450;SiPhy_29way_logOdds_rankscore=0.749;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0034;AF_popmax=0.0053;AF_male=0.0035;AF_female=0.0032;AF_raw=0.0034;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0020;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.459134;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129514008 rs200030296 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17822;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200030296;CLNALLELEID=191155;CLNDN=Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0;AF=0.0025;AF_popmax=0.0045;AF_male=0.0023;AF_female=0.0028;AF_raw=0.0025;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0017;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0105;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.738623;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129571330 rs3816665 G A 100 PASS AC=27;AF=0.270966;AN=214;NS=2504;DP=18775;EAS_AF=0.0843;AMR_AF=0.134;AFR_AF=0.5961;EUR_AF=0.1551;SAS_AF=0.2403;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H;1000g2015aug_all=0.270966;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816665;CLNALLELEID=98850;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.287;SIFT_converted_rankscore=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_converted_rankscore=0.363;FATHMM_pred=T;PROVEAN_score=0.05;PROVEAN_converted_rankscore=0.064;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.030;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.155;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.063;REVEL_rankscore=0.187;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.271;CADD_raw_rankscore=0.070;CADD_phred=0.771;DANN_score=0.731;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.042;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.681;Eigen-PC-raw=-1.747;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.114;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=-5.14;GERP++_RS_rankscore=0.026;phyloP100way_vertebrate=-1.575;phyloP100way_vertebrate_rankscore=0.022;phyloP20way_mammalian=-3.167;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=16.131;SiPhy_29way_logOdds_rankscore=0.812;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.14;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.5454;ExAC_nontcga_AMR=0.1279;ExAC_nontcga_EAS=0.0836;ExAC_nontcga_FIN=0.1884;ExAC_nontcga_NFE=0.1350;ExAC_nontcga_OTH=0.1879;ExAC_nontcga_SAS=0.2371;AF=0.2529;AF_popmax=0.5399;AF_male=0.2560;AF_female=0.2490;AF_raw=0.2531;AF_afr=0.5399;AF_sas=.;AF_amr=0.1087;AF_eas=0.0830;AF_nfe=0.1374;AF_fin=0.1888;AF_asj=0.1379;AF_oth=0.1912;non_topmed_AF_popmax=0.5395;non_neuro_AF_popmax=0.5410;non_cancer_AF_popmax=.;controls_AF_popmax=0.5438;Kaviar_AF=0.177811;Kaviar_AC=27490;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.000114;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +6 129601231 rs118147866 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=20506;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon18:c.C2476T:p.R826W,LAMA2:NM_001079823:exon18:c.C2476T:p.R826W;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118147866;CLNALLELEID=176970;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.027;Polyphen2_HDIV_rankscore=0.182;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.265;LRT_converted_rankscore=0.152;LRT_pred=N;MutationTaster_score=0.779;MutationTaster_converted_rankscore=0.293;MutationTaster_pred=N;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.251;VEST3_rankscore=0.306;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.073;MetaLR_rankscore=0.296;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.122;CADD_raw_rankscore=0.691;CADD_phred=25.4;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_rankscore=0.342;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.063;GenoCanyon_score=0.082;GenoCanyon_score_rankscore=0.159;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=1.146;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.892;phastCons100way_vertebrate_rankscore=0.310;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=8.098;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0012;AF=0.0070;AF_popmax=0.0075;AF_male=0.0064;AF_female=0.0079;AF_raw=0.0071;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0239;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0048318;Kaviar_AC=747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.479070;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129609026 rs148749681 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20274;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon19:c.C2572T:p.P858S,LAMA2:NM_001079823:exon19:c.C2572T:p.P858S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148749681;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.791;Polyphen2_HVAR_rankscore=0.559;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.925;MutationAssessor_score_rankscore=0.847;MutationAssessor_pred=M;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-4.98;PROVEAN_converted_rankscore=0.821;PROVEAN_pred=D;VEST3_score=0.806;VEST3_rankscore=0.795;MetaSVM_score=-0.533;MetaSVM_rankscore=0.674;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_rankscore=0.676;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.524;M-CAP_pred=D;REVEL_score=0.374;REVEL_rankscore=0.696;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.647;CADD_raw_rankscore=0.912;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.975;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.794;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.757;Eigen-PC-raw=0.774;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=6.175;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.346;SiPhy_29way_logOdds_rankscore=0.988;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670692;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129609237 rs9492296 T C 100 PASS AC=1;AF=0.0341454;AN=214;NS=2504;DP=22988;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1112;EUR_AF=0.002;SAS_AF=0.0123;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9492296;CLNALLELEID=252083;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1078;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0066;AF=0.0308;AF_popmax=0.1075;AF_male=0.0319;AF_female=0.0295;AF_raw=0.0309;AF_afr=0.1075;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.1085;non_neuro_AF_popmax=0.1056;non_cancer_AF_popmax=.;controls_AF_popmax=0.1031;Kaviar_AF=0.0104397;Kaviar_AC=1614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569901;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129612765 rs35277491 G T 100 PASS AC=1;AF=0.0463259;AN=214;NS=2504;DP=18965;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1573;EUR_AF=0.002;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.G2756T:p.R919L,LAMA2:NM_001079823:exon20:c.G2756T:p.R919L;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35277491;CLNALLELEID=98855;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.322;SIFT_converted_rankscore=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_converted_rankscore=0.318;LRT_pred=N;MutationTaster_score=0.626;MutationTaster_converted_rankscore=0.307;MutationTaster_pred=N;MutationAssessor_score=1.51;MutationAssessor_score_rankscore=0.383;MutationAssessor_pred=L;FATHMM_score=0.08;FATHMM_converted_rankscore=0.616;FATHMM_pred=T;PROVEAN_score=-2.67;PROVEAN_converted_rankscore=0.571;PROVEAN_pred=D;VEST3_score=0.074;VEST3_rankscore=0.064;MetaSVM_score=-1.060;MetaSVM_rankscore=0.118;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_rankscore=0.134;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.558;CADD_raw_rankscore=0.369;CADD_phred=19.84;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.270;fathmm-MKL_coding_rankscore=0.229;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.070;Eigen-PC-raw=-0.999;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.055;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.89;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=0.178;phyloP100way_vertebrate_rankscore=0.165;phyloP20way_mammalian=-1.671;phyloP20way_mammalian_rankscore=0.008;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.599;phastCons20way_mammalian_rankscore=0.288;SiPhy_29way_logOdds=4.729;SiPhy_29way_logOdds_rankscore=0.122;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.1438;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0059;ExAC_nontcga_SAS=0.0068;AF=0.0394;AF_popmax=0.1383;AF_male=0.0400;AF_female=0.0386;AF_raw=0.0394;AF_afr=0.1383;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.1392;non_neuro_AF_popmax=0.1364;non_cancer_AF_popmax=.;controls_AF_popmax=0.1353;Kaviar_AF=0.0136674;Kaviar_AC=2113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.252063;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129612808 rs1027199 A G 100 PASS AC=48;AF=0.313898;AN=214;NS=2504;DP=17620;EAS_AF=0.4742;AMR_AF=0.2233;AFR_AF=0.3313;EUR_AF=0.2256;SAS_AF=0.2802;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.A2799G:p.Q933Q,LAMA2:NM_001079823:exon20:c.A2799G:p.Q933Q;1000g2015aug_all=0.313898;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1027199;CLNALLELEID=98856;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2272;ExAC_nontcga_ALL=0.2712;ExAC_nontcga_AFR=0.3256;ExAC_nontcga_AMR=0.2828;ExAC_nontcga_EAS=0.4428;ExAC_nontcga_FIN=0.2884;ExAC_nontcga_NFE=0.2248;ExAC_nontcga_OTH=0.2710;ExAC_nontcga_SAS=0.2974;AF=0.2708;AF_popmax=0.4344;AF_male=0.2749;AF_female=0.2656;AF_raw=0.2712;AF_afr=0.3241;AF_sas=.;AF_amr=0.2459;AF_eas=0.4344;AF_nfe=0.2221;AF_fin=0.2976;AF_asj=0.2118;AF_oth=0.2491;non_topmed_AF_popmax=0.4387;non_neuro_AF_popmax=0.4344;non_cancer_AF_popmax=.;controls_AF_popmax=0.4223;Kaviar_AF=0.260501;Kaviar_AC=40274;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.828695;ALLELE_END GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 +6 129618791 rs117096733 T C 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=19174;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117096733;CLNALLELEID=252084;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0102;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0091;AF=0.0104;AF_popmax=0.0154;AF_male=0.0098;AF_female=0.0111;AF_raw=0.0103;AF_afr=0.0037;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0101;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0156;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0114682;Kaviar_AC=1773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.776306;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129618905 rs202050052 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18976;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon21:c.G2932A:p.D978N,LAMA2:NM_001079823:exon21:c.G2932A:p.D978N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202050052;CLNALLELEID=443877;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.237;SIFT_converted_rankscore=0.179;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.143;MetaSVM_score=-0.830;MetaSVM_rankscore=0.534;MetaSVM_pred=T;MetaLR_score=0.219;MetaLR_rankscore=0.582;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.547;M-CAP_pred=D;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.101;CADD_raw_rankscore=0.841;CADD_phred=28.2;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.911;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.694;Eigen-PC-raw=0.734;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.59;GERP++_RS_rankscore=0.846;phyloP100way_vertebrate=9.993;phyloP100way_vertebrate_rankscore=0.992;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.698;phastCons20way_mammalian_rankscore=0.309;SiPhy_29way_logOdds=19.585;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.994e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.185e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.389640;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129619059 rs11967042 G A 100 PASS AC=13;AF=0.182508;AN=214;NS=2504;DP=22463;EAS_AF=0.4107;AMR_AF=0.2233;AFR_AF=0.1195;EUR_AF=0.0785;SAS_AF=0.1104;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11967042;CLNALLELEID=252086;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0769;ExAC_nontcga_ALL=0.1387;ExAC_nontcga_AFR=0.1084;ExAC_nontcga_AMR=0.3146;ExAC_nontcga_EAS=0.3902;ExAC_nontcga_FIN=0.1394;ExAC_nontcga_NFE=0.0835;ExAC_nontcga_OTH=0.1104;ExAC_nontcga_SAS=0.1072;AF=0.1132;AF_popmax=0.3934;AF_male=0.1174;AF_female=0.1080;AF_raw=0.1134;AF_afr=0.1102;AF_sas=.;AF_amr=0.2388;AF_eas=0.3934;AF_nfe=0.0770;AF_fin=0.1311;AF_asj=0.0759;AF_oth=0.1068;non_topmed_AF_popmax=0.3974;non_neuro_AF_popmax=0.3934;non_cancer_AF_popmax=.;controls_AF_popmax=0.3956;Kaviar_AF=0.117004;Kaviar_AC=18089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 +6 129621840 rs139981540 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15760;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139981540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129622055 rs902373 A G 100 PASS AC=111;AF=0.303714;AN=214;NS=2504;DP=16769;EAS_AF=0.2976;AMR_AF=0.3386;AFR_AF=0.0953;EUR_AF=0.4602;SAS_AF=0.4059;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.303714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs902373;CLNALLELEID=252087;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4524;ExAC_nontcga_ALL=0.3960;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.2846;ExAC_nontcga_EAS=0.2865;ExAC_nontcga_FIN=0.3824;ExAC_nontcga_NFE=0.4659;ExAC_nontcga_OTH=0.4249;ExAC_nontcga_SAS=0.4350;AF=0.3426;AF_popmax=0.4491;AF_male=0.3388;AF_female=0.3473;AF_raw=0.3425;AF_afr=0.1413;AF_sas=.;AF_amr=0.2813;AF_eas=0.2819;AF_nfe=0.4491;AF_fin=0.3733;AF_asj=0.5828;AF_oth=0.4174;non_topmed_AF_popmax=0.4560;non_neuro_AF_popmax=0.4471;non_cancer_AF_popmax=.;controls_AF_popmax=0.4555;Kaviar_AF=0.393805;Kaviar_AC=60883;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 0|1 0|1 0|1 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 1|0 0|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|0 1|1 0|1 +6 129633970 rs79017110 TTG T 100 PASS AC=14;AF=0.170128;AN=214;NS=2504;DP=20220;EAS_AF=0.4067;AMR_AF=0.2262;AFR_AF=0.0794;EUR_AF=0.0785;SAS_AF=0.1033;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372962551;CLNALLELEID=252088;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0774;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.0770;ExAC_nontcga_AMR=0.2960;ExAC_nontcga_EAS=0.3893;ExAC_nontcga_FIN=0.1262;ExAC_nontcga_NFE=0.0828;ExAC_nontcga_OTH=0.1019;ExAC_nontcga_SAS=0.1004;AF=0.1028;AF_popmax=0.3816;AF_male=0.1053;AF_female=0.0997;AF_raw=0.1031;AF_afr=0.0780;AF_sas=.;AF_amr=0.2370;AF_eas=0.3816;AF_nfe=0.0771;AF_fin=0.1218;AF_asj=0.0759;AF_oth=0.1116;non_topmed_AF_popmax=0.3859;non_neuro_AF_popmax=0.3816;non_cancer_AF_popmax=.;controls_AF_popmax=0.3797;Kaviar_AF=0.0039715;Kaviar_AC=614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116158|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1899960|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.404549;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 +6 129634255 rs3798663 G A 100 PASS AC=20;AF=0.355232;AN=214;NS=2504;DP=19837;EAS_AF=0.5288;AMR_AF=0.3098;AFR_AF=0.5212;EUR_AF=0.1213;SAS_AF=0.2249;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.355232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3798663;CLNALLELEID=98858;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1241;ExAC_nontcga_ALL=0.2242;ExAC_nontcga_AFR=0.4592;ExAC_nontcga_AMR=0.3539;ExAC_nontcga_EAS=0.5567;ExAC_nontcga_FIN=0.1563;ExAC_nontcga_NFE=0.1212;ExAC_nontcga_OTH=0.1748;ExAC_nontcga_SAS=0.2075;AF=0.2443;AF_popmax=0.5461;AF_male=0.2532;AF_female=0.2332;AF_raw=0.2445;AF_afr=0.4618;AF_sas=.;AF_amr=0.3156;AF_eas=0.5461;AF_nfe=0.1175;AF_fin=0.1454;AF_asj=0.1172;AF_oth=0.1710;non_topmed_AF_popmax=0.5485;non_neuro_AF_popmax=0.5461;non_cancer_AF_popmax=.;controls_AF_popmax=0.5477;Kaviar_AF=0.205748;Kaviar_AC=31809;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116158|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1899960|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.711048;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 +6 129635800 rs2306942 G A 100 PASS AC=7;AF=0.120008;AN=214;NS=2504;DP=16729;EAS_AF=0.1111;AMR_AF=0.0562;AFR_AF=0.2186;EUR_AF=0.0427;SAS_AF=0.1207;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon24:c.G3412A:p.V1138M,LAMA2:NM_001079823:exon24:c.G3412A:p.V1138M;1000g2015aug_all=0.120008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306942;CLNALLELEID=98859;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.07;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.302;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_converted_rankscore=0.445;MutationTaster_pred=P;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.026;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.283;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.722;CADD_raw_rankscore=0.388;CADD_phred=20.9;DANN_score=0.997;DANN_rankscore=0.811;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.520;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.030;Eigen-PC-raw=0.108;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.335;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=3.149;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=8.921;SiPhy_29way_logOdds_rankscore=0.346;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0857;dbscSNV_RF_SCORE=0.288;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.1951;ExAC_nontcga_AMR=0.0503;ExAC_nontcga_EAS=0.1529;ExAC_nontcga_FIN=0.0308;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0868;AF=0.0847;AF_popmax=0.1869;AF_male=0.0865;AF_female=0.0825;AF_raw=0.0849;AF_afr=0.1869;AF_sas=.;AF_amr=0.0649;AF_eas=0.1457;AF_nfe=0.0396;AF_fin=0.0230;AF_asj=0.0379;AF_oth=0.0442;non_topmed_AF_popmax=0.1886;non_neuro_AF_popmax=0.1864;non_cancer_AF_popmax=.;controls_AF_popmax=0.1875;Kaviar_AF=0.066047;Kaviar_AC=10211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.447159;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129636606 rs17741922 T G 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=20637;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17741922;CLNALLELEID=98860;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.005;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0286;AF=0.0045;AF_popmax=0.0054;AF_male=0.0040;AF_female=0.0051;AF_raw=0.0045;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0127;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0085381;Kaviar_AC=1320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.614197;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129637037 rs199833683 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19483;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon26:c.G3866A:p.R1289K,LAMA2:NM_001079823:exon26:c.G3866A:p.R1289K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199833683;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.417;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.406;Polyphen2_HDIV_rankscore=0.362;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.341;Polyphen2_HVAR_rankscore=0.449;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.439;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_score_rankscore=0.569;MutationAssessor_pred=M;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.629;VEST3_rankscore=0.648;MetaSVM_score=-1.110;MetaSVM_rankscore=0.031;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.282;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.200;M-CAP_pred=T;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.218;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.669;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.246;Eigen-PC-raw=0.351;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.317;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=4.446;phyloP100way_vertebrate_rankscore=0.595;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.920;phastCons20way_mammalian_rankscore=0.395;SiPhy_29way_logOdds=15.324;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.708442;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129663463 rs200038968 ACTT A 100 PASS AC=6;AF=0.00579073;AN=214;NS=2504;DP=19907;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0.002;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs398123374;CLNALLELEID=98864;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0150;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0082;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0071;AF=0.0098;AF_popmax=0.0147;AF_male=0.0093;AF_female=0.0103;AF_raw=0.0098;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0.0103;AF_oth=0.0147;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0153;non_cancer_AF_popmax=.;controls_AF_popmax=0.0174;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.910643;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670438 rs41285288 T A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=14382;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285288;CLNALLELEID=98865;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.8827;dbscSNV_RF_SCORE=0.572;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0033;AF=0.0051;AF_popmax=0.0080;AF_male=0.0048;AF_female=0.0055;AF_raw=0.0051;AF_afr=0.0020;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0026;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0077;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0059249;Kaviar_AC=916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.367174;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670476 rs35089085 C T 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=14056;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon31:c.C4470T:p.D1490D,LAMA2:NM_001079823:exon31:c.C4470T:p.D1490D;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35089085;CLNALLELEID=98866;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0022;AF=0.0050;AF_popmax=0.0078;AF_male=0.0046;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.368198;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670493 rs147077184 C T 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=13710;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon31:c.C4487T:p.A1496V,LAMA2:NM_001079823:exon31:c.C4487T:p.A1496V;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147077184;CLNALLELEID=193821;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23|not_provided;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN257926,OMIM:618138|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.875;MutationAssessor_score_rankscore=0.501;MutationAssessor_pred=L;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_converted_rankscore=0.659;PROVEAN_pred=D;VEST3_score=0.713;VEST3_rankscore=0.714;MetaSVM_score=-0.550;MetaSVM_rankscore=0.668;MetaSVM_pred=T;MetaLR_score=0.292;MetaLR_rankscore=0.664;MetaLR_pred=T;M-CAP_score=0.090;M-CAP_rankscore=0.756;M-CAP_pred=D;REVEL_score=0.707;REVEL_rankscore=0.897;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.746;CADD_raw_rankscore=0.785;CADD_phred=26.9;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.799;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.310;Eigen-PC-raw=0.221;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=4.298;phyloP100way_vertebrate_rankscore=0.586;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.039;phastCons20way_mammalian_rankscore=0.156;SiPhy_29way_logOdds=16.359;SiPhy_29way_logOdds_rankscore=0.830;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0021;AF_popmax=0.0027;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0046;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0032018;Kaviar_AC=495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.554363;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670548 rs17057158 C T 100 PASS AC=13;AF=0.0970447;AN=214;NS=2504;DP=13968;EAS_AF=0.0466;AMR_AF=0.147;AFR_AF=0.1135;EUR_AF=0.0706;SAS_AF=0.1186;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17057158;CLNALLELEID=98867;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0613;ExAC_nontcga_ALL=0.0887;ExAC_nontcga_AFR=0.1143;ExAC_nontcga_AMR=0.1926;ExAC_nontcga_EAS=0.0302;ExAC_nontcga_FIN=0.0481;ExAC_nontcga_NFE=0.0639;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1294;AF=0.0729;AF_popmax=0.1615;AF_male=0.0699;AF_female=0.0766;AF_raw=0.0730;AF_afr=0.1116;AF_sas=.;AF_amr=0.1615;AF_eas=0.0295;AF_nfe=0.0545;AF_fin=0.0523;AF_asj=0.0972;AF_oth=0.0755;non_topmed_AF_popmax=0.1629;non_neuro_AF_popmax=0.1527;non_cancer_AF_popmax=.;controls_AF_popmax=0.1223;Kaviar_AF=0.0816872;Kaviar_AC=12629;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129674561 rs3841288 TC T 100 PASS AC=13;AF=0.116813;AN=214;NS=2504;DP=16817;EAS_AF=0.0516;AMR_AF=0.1715;AFR_AF=0.1717;EUR_AF=0.0706;SAS_AF=0.1186;AA=CC|CC|C|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.116813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3841288;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0922;AF_popmax=0.1823;AF_male=0.0902;AF_female=0.0946;AF_raw=0.0948;AF_afr=0.1823;AF_sas=.;AF_amr=0.1695;AF_eas=0.0431;AF_nfe=0.0526;AF_fin=0.0493;AF_asj=0.0966;AF_oth=0.0772;non_topmed_AF_popmax=0.1822;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1893;Kaviar_AF=0.0188259;Kaviar_AC=490;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116164|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.094876;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129687396 rs117781224 G A 100 PASS AC=4;AF=0.0101837;AN=214;NS=2504;DP=19267;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0023;EUR_AF=0.0318;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon33:c.G4750A:p.G1584S,LAMA2:NM_001079823:exon33:c.G4750A:p.G1584S;1000g2015aug_all=0.0101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117781224;CLNALLELEID=98869;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.263;SIFT_converted_rankscore=0.164;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.341;LRT_pred=N;MutationTaster_score=0.928;MutationTaster_converted_rankscore=0.271;MutationTaster_pred=N;MutationAssessor_score=0.97;MutationAssessor_score_rankscore=0.241;MutationAssessor_pred=L;FATHMM_score=1.52;FATHMM_converted_rankscore=0.307;FATHMM_pred=T;PROVEAN_score=0.08;PROVEAN_converted_rankscore=0.060;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.021;MetaSVM_score=-1.015;MetaSVM_rankscore=0.254;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.061;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.753;CADD_raw_rankscore=0.392;CADD_phred=21.1;DANN_score=0.982;DANN_rankscore=0.390;fathmm-MKL_coding_score=0.509;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.361;Eigen-PC-raw=-0.185;GenoCanyon_score=0.018;GenoCanyon_score_rankscore=0.130;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.49;GERP++_RS_rankscore=0.389;phyloP100way_vertebrate=1.148;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=0.729;phastCons100way_vertebrate_rankscore=0.287;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=6.326;SiPhy_29way_logOdds_rankscore=0.203;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0330;ExAC_nontcga_ALL=0.0184;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0117;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0110;AF=0.0177;AF_popmax=0.0282;AF_male=0.0184;AF_female=0.0169;AF_raw=0.0177;AF_afr=0.0053;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0115;AF_asj=0.0276;AF_oth=0.0193;non_topmed_AF_popmax=0.0272;non_neuro_AF_popmax=0.0275;non_cancer_AF_popmax=.;controls_AF_popmax=0.0229;Kaviar_AF=0.020362;Kaviar_AC=3148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.820159;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129691132 rs17057184 C G 100 PASS AC=13;AF=0.0966454;AN=214;NS=2504;DP=18463;EAS_AF=0.0466;AMR_AF=0.1484;AFR_AF=0.1104;EUR_AF=0.0706;SAS_AF=0.1196;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon34:c.C4956G:p.T1652T,LAMA2:NM_001079823:exon34:c.C4956G:p.T1652T;1000g2015aug_all=0.0966454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17057184;CLNALLELEID=98870;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0615;ExAC_nontcga_ALL=0.0883;ExAC_nontcga_AFR=0.1113;ExAC_nontcga_AMR=0.1932;ExAC_nontcga_EAS=0.0294;ExAC_nontcga_FIN=0.0477;ExAC_nontcga_NFE=0.0637;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1298;AF=0.0717;AF_popmax=0.1639;AF_male=0.0685;AF_female=0.0756;AF_raw=0.0717;AF_afr=0.1079;AF_sas=.;AF_amr=0.1639;AF_eas=0.0288;AF_nfe=0.0543;AF_fin=0.0518;AF_asj=0.0966;AF_oth=0.0744;non_topmed_AF_popmax=0.1654;non_neuro_AF_popmax=0.1570;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.0823793;Kaviar_AC=12736;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647413;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129704460 rs189043247 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19430;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189043247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.344e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.257030;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129722389 rs3749877 A G 100 PASS AC=99;AF=0.544529;AN=214;NS=2504;DP=20266;EAS_AF=0.5516;AMR_AF=0.4683;AFR_AF=0.6581;EUR_AF=0.4632;SAS_AF=0.5215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.A5466G:p.E1822E,LAMA2:NM_001079823:exon38:c.A5466G:p.E1822E;1000g2015aug_all=0.544529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3749877;CLNALLELEID=98873;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4653;ExAC_nontcga_ALL=0.4993;ExAC_nontcga_AFR=0.6242;ExAC_nontcga_AMR=0.4699;ExAC_nontcga_EAS=0.5734;ExAC_nontcga_FIN=0.4626;ExAC_nontcga_NFE=0.4667;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.5381;AF=0.5107;AF_popmax=0.6235;AF_male=0.5116;AF_female=0.5095;AF_raw=0.5106;AF_afr=0.6235;AF_sas=.;AF_amr=0.4847;AF_eas=0.5792;AF_nfe=0.4537;AF_fin=0.4600;AF_asj=0.5769;AF_oth=0.4834;non_topmed_AF_popmax=0.6250;non_neuro_AF_popmax=0.625;non_cancer_AF_popmax=.;controls_AF_popmax=0.6208;Kaviar_AF=0.489541;Kaviar_AC=75684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.315909;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129722425 rs3749878 G A 100 PASS AC=99;AF=0.543331;AN=214;NS=2504;DP=20575;EAS_AF=0.5466;AMR_AF=0.4683;AFR_AF=0.6581;EUR_AF=0.4622;SAS_AF=0.5215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.G5502A:p.E1834E,LAMA2:NM_001079823:exon38:c.G5502A:p.E1834E;1000g2015aug_all=0.543331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3749878;CLNALLELEID=98874;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4641;ExAC_nontcga_ALL=0.4974;ExAC_nontcga_AFR=0.6240;ExAC_nontcga_AMR=0.4687;ExAC_nontcga_EAS=0.5720;ExAC_nontcga_FIN=0.4567;ExAC_nontcga_NFE=0.4642;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.5379;AF=0.5084;AF_popmax=0.6237;AF_male=0.5092;AF_female=0.5074;AF_raw=0.5082;AF_afr=0.6237;AF_sas=.;AF_amr=0.4787;AF_eas=0.5783;AF_nfe=0.4510;AF_fin=0.4545;AF_asj=0.5729;AF_oth=0.4797;non_topmed_AF_popmax=0.6252;non_neuro_AF_popmax=0.625;non_cancer_AF_popmax=.;controls_AF_popmax=0.6210;Kaviar_AF=0.487141;Kaviar_AC=75313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426074;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129722453 rs56173620 C A 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=20618;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.002;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.C5530A:p.R1844S,LAMA2:NM_001079823:exon38:c.C5530A:p.R1844S;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173620;CLNALLELEID=98875;CLNDN=Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.729;SIFT_converted_rankscore=0.038;SIFT_pred=T;Polyphen2_HDIV_score=0.085;Polyphen2_HDIV_rankscore=0.233;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.059;Polyphen2_HVAR_rankscore=0.252;Polyphen2_HVAR_pred=B;LRT_score=0.157;LRT_converted_rankscore=0.178;LRT_pred=N;MutationTaster_score=0.974;MutationTaster_converted_rankscore=0.255;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_converted_rankscore=0.221;FATHMM_pred=T;PROVEAN_score=0.71;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.194;VEST3_rankscore=0.238;MetaSVM_score=-0.960;MetaSVM_rankscore=0.393;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.041;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.879;CADD_raw_rankscore=0.407;CADD_phred=21.8;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.146;fathmm-MKL_coding_rankscore=0.183;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.539;Eigen-PC-raw=-0.404;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.4;GERP++_RS_rankscore=0.522;phyloP100way_vertebrate=0.873;phyloP100way_vertebrate_rankscore=0.275;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.010;phastCons100way_vertebrate_rankscore=0.182;phastCons20way_mammalian=0.930;phastCons20way_mammalian_rankscore=0.404;SiPhy_29way_logOdds=8.784;SiPhy_29way_logOdds_rankscore=0.338;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0171;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0053;ExAC_nontcga_NFE=0.0171;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0024;AF=0.0103;AF_popmax=0.0160;AF_male=0.0102;AF_female=0.0103;AF_raw=0.0102;AF_afr=0.0036;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0160;AF_fin=0.0072;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0153;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.446649;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129722481 rs141911213 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20643;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.T5558G:p.I1853R,LAMA2:NM_001079823:exon38:c.T5558G:p.I1853R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141911213;CLNALLELEID=298963;CLNDN=Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.714;Polyphen2_HDIV_rankscore=0.402;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.34;Polyphen2_HVAR_rankscore=0.406;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.348;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.475;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=1.95;FATHMM_converted_rankscore=0.225;FATHMM_pred=T;PROVEAN_score=-1.98;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.678;VEST3_rankscore=0.686;MetaSVM_score=-1.039;MetaSVM_rankscore=0.176;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.371;M-CAP_pred=T;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.035;CADD_raw_rankscore=0.425;CADD_phred=22.3;DANN_score=0.962;DANN_rankscore=0.285;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.763;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.018;Eigen-PC-raw=0.042;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.43;GERP++_RS_rankscore=0.789;phyloP100way_vertebrate=2.878;phyloP100way_vertebrate_rankscore=0.480;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.753;phastCons20way_mammalian_rankscore=0.322;SiPhy_29way_logOdds=10.944;SiPhy_29way_logOdds_rankscore=0.463;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.459482;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129724942 rs3828735 T A 100 PASS AC=96;AF=0.539936;AN=214;NS=2504;DP=17023;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6551;EUR_AF=0.4553;SAS_AF=0.5194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.539936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3828735;CLNALLELEID=252099;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1772;ExAC_nontcga_ALL=0.4892;ExAC_nontcga_AFR=0.6205;ExAC_nontcga_AMR=0.4599;ExAC_nontcga_EAS=0.5633;ExAC_nontcga_FIN=0.4470;ExAC_nontcga_NFE=0.4540;ExAC_nontcga_OTH=0.4942;ExAC_nontcga_SAS=0.5345;AF=0.5007;AF_popmax=0.6183;AF_male=0.5009;AF_female=0.5005;AF_raw=0.5021;AF_afr=0.6183;AF_sas=.;AF_amr=0.4740;AF_eas=0.5723;AF_nfe=0.4418;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4730;non_topmed_AF_popmax=0.6198;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.418009;Kaviar_AC=64625;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129724944 rs80125253 C T 100 PASS AC=96;AF=0.540735;AN=214;NS=2504;DP=17092;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6566;EUR_AF=0.4563;SAS_AF=0.5204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80125253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.4893;ExAC_nontcga_AFR=0.6205;ExAC_nontcga_AMR=0.4599;ExAC_nontcga_EAS=0.5631;ExAC_nontcga_FIN=0.4470;ExAC_nontcga_NFE=0.4542;ExAC_nontcga_OTH=0.4928;ExAC_nontcga_SAS=0.5345;AF=0.5010;AF_popmax=0.6185;AF_male=0.5010;AF_female=0.5009;AF_raw=0.5021;AF_afr=0.6185;AF_sas=.;AF_amr=0.4751;AF_eas=0.5745;AF_nfe=0.4418;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4739;non_topmed_AF_popmax=0.62;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.417866;Kaviar_AC=64603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129724945 rs76902576 T G 100 PASS AC=96;AF=0.540735;AN=214;NS=2504;DP=17385;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6566;EUR_AF=0.4563;SAS_AF=0.5204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76902576;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.4893;ExAC_nontcga_AFR=0.6208;ExAC_nontcga_AMR=0.4597;ExAC_nontcga_EAS=0.5637;ExAC_nontcga_FIN=0.4471;ExAC_nontcga_NFE=0.4541;ExAC_nontcga_OTH=0.4927;ExAC_nontcga_SAS=0.5345;AF=0.5007;AF_popmax=0.6183;AF_male=0.5010;AF_female=0.5004;AF_raw=0.5021;AF_afr=0.6183;AF_sas=.;AF_amr=0.4740;AF_eas=0.5738;AF_nfe=0.4417;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4730;non_topmed_AF_popmax=0.6198;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.417866;Kaviar_AC=64603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129748836 rs139869063 G A 100 PASS AC=3;AF=0.00359425;AN=214;NS=2504;DP=20701;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139869063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0067;AF_popmax=0.0100;AF_male=0.0070;AF_female=0.0063;AF_raw=0.0067;AF_afr=0.0015;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0081;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0014359;Kaviar_AC=222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129749070 rs546398158 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19009;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546398158;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.839996;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129759802 rs186382094 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15158;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon42:c.C5980A:p.H1994N,LAMA2:NM_001079823:exon42:c.C5980A:p.H1994N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186382094;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.717;SIFT_converted_rankscore=0.040;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_converted_rankscore=0.094;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_score_rankscore=0.024;MutationAssessor_pred=N;FATHMM_score=2.07;FATHMM_converted_rankscore=0.204;FATHMM_pred=T;PROVEAN_score=0.97;PROVEAN_converted_rankscore=0.015;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.909;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.102;M-CAP_pred=T;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.288;DANN_score=0.597;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.107;Eigen-PC-raw=-1.083;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-1.82;GERP++_RS_rankscore=0.074;phyloP100way_vertebrate=-0.156;phyloP100way_vertebrate_rankscore=0.100;phyloP20way_mammalian=-0.578;phyloP20way_mammalian_rankscore=0.045;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.109;phastCons20way_mammalian_rankscore=0.192;SiPhy_29way_logOdds=7.259;SiPhy_29way_logOdds_rankscore=0.252;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.847e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.545e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.364494;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762036 rs56035053 A G 100 PASS AC=3;AF=0.00119808;AN=214;NS=2504;DP=20171;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.A6161G:p.Q2054R,LAMA2:NM_001079823:exon43:c.A6161G:p.Q2054R;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56035053;CLNALLELEID=194639;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.43;SIFT_converted_rankscore=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=N;MutationTaster_score=0.835;MutationTaster_converted_rankscore=0.287;MutationTaster_pred=N;MutationAssessor_score=-0.18;MutationAssessor_score_rankscore=0.042;MutationAssessor_pred=N;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-0.14;PROVEAN_converted_rankscore=0.092;PROVEAN_pred=N;VEST3_score=0.19;VEST3_rankscore=0.232;MetaSVM_score=-0.991;MetaSVM_rankscore=0.325;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.126;M-CAP_pred=T;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.014;CADD_raw_rankscore=0.092;CADD_phred=2.456;DANN_score=0.961;DANN_rankscore=0.282;fathmm-MKL_coding_score=0.470;fathmm-MKL_coding_rankscore=0.276;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.469;Eigen-PC-raw=-0.326;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.392;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=3.950;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=1.028;phyloP20way_mammalian_rankscore=0.649;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.212;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=7.868;SiPhy_29way_logOdds_rankscore=0.285;Interpro_domain=Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.1e-05;AF=0.0006;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.488683;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762062 rs187633696 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19954;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6187A:p.D2063N,LAMA2:NM_001079823:exon43:c.G6187A:p.D2063N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187633696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.353;SIFT_converted_rankscore=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.672;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.226;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.699;LRT_converted_rankscore=0.101;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_converted_rankscore=0.221;FATHMM_pred=T;PROVEAN_score=-0.02;PROVEAN_converted_rankscore=0.073;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.003;MetaSVM_rankscore=0.292;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.051;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.278;M-CAP_pred=T;REVEL_score=0.029;REVEL_rankscore=0.069;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.360;CADD_raw_rankscore=0.345;CADD_phred=18.56;DANN_score=0.993;DANN_rankscore=0.570;fathmm-MKL_coding_score=0.084;fathmm-MKL_coding_rankscore=0.141;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.291;Eigen-PC-raw=-0.265;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.392;integrated_confidence_value=0;GERP++_RS=3.61;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=0.676;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.959;phastCons20way_mammalian_rankscore=0.439;SiPhy_29way_logOdds=4.676;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.831e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541478;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762112 rs2297738 G A 100 PASS AC=30;AF=0.182508;AN=214;NS=2504;DP=21579;EAS_AF=0.2202;AMR_AF=0.2334;AFR_AF=0.1536;EUR_AF=0.1551;SAS_AF=0.1748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T;1000g2015aug_all=0.182508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297738;CLNALLELEID=98882;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1457;ExAC_nontcga_ALL=0.1702;ExAC_nontcga_AFR=0.1377;ExAC_nontcga_AMR=0.2268;ExAC_nontcga_EAS=0.2187;ExAC_nontcga_FIN=0.2155;ExAC_nontcga_NFE=0.1516;ExAC_nontcga_OTH=0.1720;ExAC_nontcga_SAS=0.1701;AF=0.1652;AF_popmax=0.2117;AF_male=0.1661;AF_female=0.1640;AF_raw=0.1651;AF_afr=0.1281;AF_sas=.;AF_amr=0.2040;AF_eas=0.2117;AF_nfe=0.1696;AF_fin=0.2046;AF_asj=0.1241;AF_oth=0.1860;non_topmed_AF_popmax=0.2131;non_neuro_AF_popmax=0.2117;non_cancer_AF_popmax=.;controls_AF_popmax=0.2052;Kaviar_AF=0.1658;Kaviar_AC=25633;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.406276;ALLELE_END GT 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129763248 rs570221642 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570221642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=6.491e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.035e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129774077 rs564161190 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19231;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564161190;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.863054;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129775470 rs2297742 T C 100 PASS AC=28;AF=0.172324;AN=214;NS=2504;DP=16759;EAS_AF=0.2282;AMR_AF=0.219;AFR_AF=0.1505;EUR_AF=0.1282;SAS_AF=0.1564;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.172324;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297742;CLNALLELEID=252104;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1206;ExAC_nontcga_ALL=0.1698;ExAC_nontcga_AFR=0.1490;ExAC_nontcga_AMR=0.2427;ExAC_nontcga_EAS=0.2563;ExAC_nontcga_FIN=0.1744;ExAC_nontcga_NFE=0.1458;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1645;AF=0.1396;AF_popmax=0.2143;AF_male=0.1411;AF_female=0.1378;AF_raw=0.1396;AF_afr=0.1248;AF_sas=.;AF_amr=0.1879;AF_eas=0.2143;AF_nfe=0.1348;AF_fin=0.1487;AF_asj=0.1034;AF_oth=0.1618;non_topmed_AF_popmax=0.2157;non_neuro_AF_popmax=0.2143;non_cancer_AF_popmax=.;controls_AF_popmax=0.2022;Kaviar_AF=0.142049;Kaviar_AC=21961;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.001769;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129781525 rs150868009 A T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=19057;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0229;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150868009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0103;AF_popmax=0.0155;AF_male=0.0108;AF_female=0.0097;AF_raw=0.0103;AF_afr=0.0022;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0155;AF_fin=0.0127;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0150;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.002044;Kaviar_AC=316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805051|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.174418;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 129785391 rs1414736 T C 100 PASS AC=123;AF=0.660942;AN=214;NS=2504;DP=20910;EAS_AF=0.5516;AMR_AF=0.634;AFR_AF=0.8601;EUR_AF=0.5795;SAS_AF=0.6074;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1414736;CLNALLELEID=252105;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5763;ExAC_nontcga_ALL=0.6123;ExAC_nontcga_AFR=0.8232;ExAC_nontcga_AMR=0.6468;ExAC_nontcga_EAS=0.5543;ExAC_nontcga_FIN=0.5694;ExAC_nontcga_NFE=0.5780;ExAC_nontcga_OTH=0.5994;ExAC_nontcga_SAS=0.6308;AF=0.6413;AF_popmax=0.8145;AF_male=0.6439;AF_female=0.6379;AF_raw=0.6409;AF_afr=0.8145;AF_sas=.;AF_amr=0.6466;AF_eas=0.5613;AF_nfe=0.5723;AF_fin=0.5570;AF_asj=0.6483;AF_oth=0.6077;non_topmed_AF_popmax=0.8149;non_neuro_AF_popmax=0.8051;non_cancer_AF_popmax=.;controls_AF_popmax=0.8083;Kaviar_AF=0.596532;Kaviar_AC=92225;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 1|0 1|1 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|1 0|0 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129796620 rs7741996 C T 100 PASS AC=97;AF=0.408347;AN=214;NS=2504;DP=17265;EAS_AF=0.2956;AMR_AF=0.3804;AFR_AF=0.4887;EUR_AF=0.4105;SAS_AF=0.4335;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.408347;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7741996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4104;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4033;AF_popmax=0.4575;AF_male=0.4035;AF_female=0.4030;AF_raw=0.4025;AF_afr=0.4575;AF_sas=.;AF_amr=0.4167;AF_eas=0.3190;AF_nfe=0.3865;AF_fin=0.3630;AF_asj=0.5903;AF_oth=0.3976;non_topmed_AF_popmax=0.4582;non_neuro_AF_popmax=0.4498;non_cancer_AF_popmax=.;controls_AF_popmax=0.4424;Kaviar_AF=0.0780326;Kaviar_AC=12064;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805056|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.104293;ALLELE_END GT 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129807629 rs2229848 C T 100 PASS AC=160;AF=0.583866;AN=214;NS=2504;DP=18582;EAS_AF=0.6369;AMR_AF=0.6239;AFR_AF=0.41;EUR_AF=0.7177;SAS_AF=0.5982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V;1000g2015aug_all=0.583866;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229848;CLNALLELEID=177814;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.056;SIFT_converted_rankscore=0.381;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-1.2;FATHMM_converted_rankscore=0.785;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_converted_rankscore=0.615;PROVEAN_pred=D;VEST3_score=0.862;VEST3_rankscore=0.849;MetaSVM_score=0.056;MetaSVM_rankscore=0.834;MetaSVM_pred=D;MetaLR_score=0.584;MetaLR_rankscore=0.851;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.605;REVEL_rankscore=0.847;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.378;CADD_raw_rankscore=0.950;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.708;Eigen-PC-raw=0.692;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=4.629;phyloP100way_vertebrate_rankscore=0.608;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.894;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=19.974;SiPhy_29way_logOdds_rankscore=0.973;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7265;ExAC_nontcga_ALL=0.6642;ExAC_nontcga_AFR=0.4551;ExAC_nontcga_AMR=0.6739;ExAC_nontcga_EAS=0.6019;ExAC_nontcga_FIN=0.6464;ExAC_nontcga_NFE=0.7133;ExAC_nontcga_OTH=0.6888;ExAC_nontcga_SAS=0.6461;AF=0.6288;AF_popmax=0.7162;AF_male=0.6254;AF_female=0.6330;AF_raw=0.6283;AF_afr=0.4532;AF_sas=.;AF_amr=0.6856;AF_eas=0.6179;AF_nfe=0.7162;AF_fin=0.6521;AF_asj=0.7448;AF_oth=0.6575;non_topmed_AF_popmax=0.7142;non_neuro_AF_popmax=0.7152;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.664092;Kaviar_AC=102670;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0456106|N/A|CEBPB|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.660625;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 +6 129807697 rs200710385 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19717;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7816A:p.V2606M,LAMA2:NM_000426:exon56:c.G7828A:p.V2610M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200710385;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.839;Polyphen2_HVAR_rankscore=0.583;Polyphen2_HVAR_pred=P;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=0.870;MutationTaster_converted_rankscore=0.355;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=-1.13;FATHMM_converted_rankscore=0.777;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.231;VEST3_rankscore=0.283;MetaSVM_score=-0.324;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_rankscore=0.720;MetaLR_pred=T;M-CAP_score=0.049;M-CAP_rankscore=0.638;M-CAP_pred=D;REVEL_score=0.341;REVEL_rankscore=0.667;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.529;CADD_raw_rankscore=0.751;CADD_phred=26.3;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.729;fathmm-MKL_coding_rankscore=0.354;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.500;Eigen-PC-raw=0.492;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=2.974;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.862;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=5.612;SiPhy_29way_logOdds_rankscore=0.166;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569754;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129807699 rs2229849 G C 100 PASS AC=160;AF=0.584265;AN=214;NS=2504;DP=19739;EAS_AF=0.6369;AMR_AF=0.6239;AFR_AF=0.4115;EUR_AF=0.7177;SAS_AF=0.5982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V;1000g2015aug_all=0.584265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229849;CLNALLELEID=98894;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7266;ExAC_nontcga_ALL=0.6645;ExAC_nontcga_AFR=0.4563;ExAC_nontcga_AMR=0.6742;ExAC_nontcga_EAS=0.6035;ExAC_nontcga_FIN=0.6461;ExAC_nontcga_NFE=0.7134;ExAC_nontcga_OTH=0.6888;ExAC_nontcga_SAS=0.6461;AF=0.6297;AF_popmax=0.7163;AF_male=0.6259;AF_female=0.6345;AF_raw=0.6293;AF_afr=0.4568;AF_sas=.;AF_amr=0.6872;AF_eas=0.6148;AF_nfe=0.7163;AF_fin=0.6518;AF_asj=0.7448;AF_oth=0.6575;non_topmed_AF_popmax=0.7144;non_neuro_AF_popmax=0.7154;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.665295;Kaviar_AC=102856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569754;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 +6 129807714 rs2229850 G A 100 PASS AC=46;AF=0.403754;AN=214;NS=2504;DP=19969;EAS_AF=0.3631;AMR_AF=0.3646;AFR_AF=0.5877;EUR_AF=0.2565;SAS_AF=0.3763;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P;1000g2015aug_all=0.403754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229850;CLNALLELEID=98895;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2488;ExAC_nontcga_ALL=0.3118;ExAC_nontcga_AFR=0.5404;ExAC_nontcga_AMR=0.3079;ExAC_nontcga_EAS=0.3983;ExAC_nontcga_FIN=0.3145;ExAC_nontcga_NFE=0.2617;ExAC_nontcga_OTH=0.2767;ExAC_nontcga_SAS=0.3133;AF=0.3518;AF_popmax=0.5393;AF_male=0.3576;AF_female=0.3446;AF_raw=0.3517;AF_afr=0.5393;AF_sas=.;AF_amr=0.3019;AF_eas=0.3845;AF_nfe=0.2601;AF_fin=0.3076;AF_asj=0.2207;AF_oth=0.3226;non_topmed_AF_popmax=0.5386;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5527;Kaviar_AF=0.302066;Kaviar_AC=46700;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.554154;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129813043 rs549227397 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19511;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549227397;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0028;dbscSNV_RF_SCORE=0.176;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.222e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338910;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813053 rs2244008 A G 100 PASS AC=10;AF=0.111621;AN=214;NS=2504;DP=19091;EAS_AF=0.1319;AMR_AF=0.0749;AFR_AF=0.121;EUR_AF=0.0686;SAS_AF=0.1483;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.A7894G:p.T2632A,LAMA2:NM_000426:exon57:c.A7906G:p.T2636A;1000g2015aug_all=0.111621;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244008;CLNALLELEID=98896;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_rankscore=0.158;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.497;LRT_pred=D;MutationTaster_score=0.179;MutationTaster_converted_rankscore=0.348;MutationTaster_pred=P;MutationAssessor_score=1.265;MutationAssessor_score_rankscore=0.321;MutationAssessor_pred=L;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.067;VEST3_rankscore=0.064;MetaSVM_score=-0.687;MetaSVM_rankscore=0.611;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_rankscore=0.617;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.164;CADD_raw_rankscore=0.321;CADD_phred=17.27;DANN_score=0.991;DANN_rankscore=0.532;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_rankscore=0.403;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.006;Eigen-PC-raw=0.129;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=3.994;phyloP100way_vertebrate_rankscore=0.565;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=10.962;SiPhy_29way_logOdds_rankscore=0.464;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000233351.1;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0630;ExAC_nontcga_ALL=0.0955;ExAC_nontcga_AFR=0.1168;ExAC_nontcga_AMR=0.0767;ExAC_nontcga_EAS=0.1958;ExAC_nontcga_FIN=0.1133;ExAC_nontcga_NFE=0.0787;ExAC_nontcga_OTH=0.0878;ExAC_nontcga_SAS=0.0960;AF=0.0917;AF_popmax=0.1737;AF_male=0.0935;AF_female=0.0894;AF_raw=0.0918;AF_afr=0.1148;AF_sas=.;AF_amr=0.0719;AF_eas=0.1737;AF_nfe=0.0675;AF_fin=0.1115;AF_asj=0.0793;AF_oth=0.0884;non_topmed_AF_popmax=0.1722;non_neuro_AF_popmax=0.1737;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.0845849;Kaviar_AC=13077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.300311;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813175 rs35313209 T C 100 PASS AC=1;AF=0.0185703;AN=214;NS=2504;DP=16911;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0552;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.T8016C:p.N2672N,LAMA2:NM_000426:exon57:c.T8028C:p.N2676N;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35313209;CLNALLELEID=134889;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0476;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0024;AF=0.0212;AF_popmax=0.0496;AF_male=0.0205;AF_female=0.0220;AF_raw=0.0212;AF_afr=0.0496;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.0495;non_neuro_AF_popmax=0.0485;non_cancer_AF_popmax=.;controls_AF_popmax=0.0470;Kaviar_AF=0.0131628;Kaviar_AC=2035;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.421703;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813288 rs563490057 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15113;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563490057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.370312;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813429 rs142431635 T TA 100 PASS 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AC=1;AF=0.000199681;AN=214;NS=2504;DP=16441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146097890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.062581;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129823857 rs145295628 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18256;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon58:c.C8286T:p.F2762F,LAMA2:NM_000426:exon59:c.C8298T:p.F2766F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145295628;CLNALLELEID=521708;CLNDN=Laminin_alpha_2-related_dystrophy;CLNDISDB=MedGen:CN117977;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.724e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269126|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.688857;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826335 rs113644365 T C 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=18421;EAS_AF=0.001;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113644365;CLNALLELEID=98898;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0135;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0024;AF=0.0080;AF_popmax=0.0121;AF_male=0.0077;AF_female=0.0083;AF_raw=0.0080;AF_afr=0.0033;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0090167;Kaviar_AC=1394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.454078;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826383 rs142451929 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17251;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon60:c.T8574C:p.Y2858Y,LAMA2:NM_000426:exon61:c.T8586C:p.Y2862Y;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142451929;CLNALLELEID=252111;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.487326;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826488 rs2228599 A G 100 PASS AC=1;AF=0.0179712;AN=214;NS=2504;DP=18433;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0643;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon60:c.A8679G:p.R2893R,LAMA2:NM_000426:exon61:c.A8691G:p.R2897R;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228599;CLNALLELEID=134892;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0530;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0145;AF_popmax=0.0512;AF_male=0.0144;AF_female=0.0146;AF_raw=0.0145;AF_afr=0.0512;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0513;non_neuro_AF_popmax=0.0532;non_cancer_AF_popmax=.;controls_AF_popmax=0.0537;Kaviar_AF=0.0047089;Kaviar_AC=728;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.636526;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 129835530 rs189360899 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19671;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon63:c.G8989C:p.V2997L,LAMA2:NM_000426:exon64:c.G9001C:p.V3001L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189360899;CLNALLELEID=421571;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.559;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.821;Polyphen2_HVAR_rankscore=0.573;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.736;VEST3_rankscore=0.733;MetaSVM_score=-0.060;MetaSVM_rankscore=0.810;MetaSVM_pred=T;MetaLR_score=0.468;MetaLR_rankscore=0.795;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.633;REVEL_rankscore=0.861;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.224;CADD_raw_rankscore=0.447;CADD_phred=22.7;DANN_score=0.994;DANN_rankscore=0.628;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.889;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.413;Eigen-PC-raw=0.381;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=7.826;phyloP100way_vertebrate_rankscore=0.847;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=14.492;SiPhy_29way_logOdds_rankscore=0.671;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.675911;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129835690 rs151049890 C A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129837320 rs55776770 C A 100 PASS AC=7;AF=0.0091853;AN=214;NS=2504;DP=18377;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0358;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55776770;CLNALLELEID=252115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0415;ExAC_nontcga_ALL=0.0223;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0260;ExAC_nontcga_NFE=0.0351;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0039;AF=0.0228;AF_popmax=0.0333;AF_male=0.0230;AF_female=0.0226;AF_raw=0.0228;AF_afr=0.0060;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0333;AF_fin=0.0247;AF_asj=0.0448;AF_oth=0.0341;non_topmed_AF_popmax=0.0310;non_neuro_AF_popmax=0.0333;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0241135;Kaviar_AC=3728;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.508025;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129837549 rs1049473 A C 100 PASS AC=1;AF=0.0509185;AN=214;NS=2504;DP=17629;EAS_AF=0.1577;AMR_AF=0.0317;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0644;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LAMA2;GeneDetail.refGene=NM_000426:c.*57A>C\x3bNM_001079823:c.*57A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1049473;CLNALLELEID=298982;CLNDN=Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN239326;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0189;AF_popmax=0.1735;AF_male=0.0190;AF_female=0.0186;AF_raw=0.0189;AF_afr=0.0014;AF_sas=.;AF_amr=0.0342;AF_eas=0.1735;AF_nfe=0.0048;AF_fin=0.0509;AF_asj=0.0034;AF_oth=0.0258;non_topmed_AF_popmax=0.1752;non_neuro_AF_popmax=0.1735;non_cancer_AF_popmax=.;controls_AF_popmax=0.1751;Kaviar_AF=0.0034346;Kaviar_AC=531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.609228;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133596051 rs566465018 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566465018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.960786;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133703698 rs10484668 T C 100 PASS AC=3;AF=0.0922524;AN=214;NS=2504;DP=16702;EAS_AF=0.005;AMR_AF=0.0187;AFR_AF=0.3222;EUR_AF=0.003;SAS_AF=0.0153;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0922524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10484668;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0719;AF_popmax=0.2502;AF_male=0.0764;AF_female=0.0662;AF_raw=0.0722;AF_afr=0.2502;AF_sas=.;AF_amr=0.0271;AF_eas=0.0077;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0212;non_topmed_AF_popmax=0.2519;non_neuro_AF_popmax=0.2522;non_cancer_AF_popmax=.;controls_AF_popmax=0.2631;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.594508;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133777690 rs201806127 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17569;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201806127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.521e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805937|Enhancer;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004490|hsa-miR-19a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875193;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133777842 rs556666194 C G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133782375 rs3756873 T A 100 PASS AC=10;AF=0.201278;AN=214;NS=2504;DP=16549;EAS_AF=0.2986;AMR_AF=0.1412;AFR_AF=0.351;EUR_AF=0.0557;SAS_AF=0.091;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.201278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3756873;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0669;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1368;AF_popmax=0.2965;AF_male=0.1458;AF_female=0.1255;AF_raw=0.1369;AF_afr=0.2965;AF_sas=.;AF_amr=0.1449;AF_eas=0.2935;AF_nfe=0.0598;AF_fin=0.0328;AF_asj=0.0345;AF_oth=0.0800;non_topmed_AF_popmax=0.2967;non_neuro_AF_popmax=0.3034;non_cancer_AF_popmax=.;controls_AF_popmax=0.3101;Kaviar_AF=0.0211705;Kaviar_AC=3273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.534516;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 +6 133789728 rs9493627 G A 100 PASS AC=73;AF=0.409545;AN=214;NS=2504;DP=20421;EAS_AF=0.3442;AMR_AF=0.3429;AFR_AF=0.5688;EUR_AF=0.3111;SAS_AF=0.41;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9493627;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.254;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.548;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.599;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.391;VEST3_rankscore=0.625;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.411;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.626;Eigen-PC-raw=0.687;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.516;phyloP100way_vertebrate_rankscore=0.970;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.744;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000223542.1|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Ovary|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3128;ExAC_nontcga_ALL=0.3418;ExAC_nontcga_AFR=0.5342;ExAC_nontcga_AMR=0.2864;ExAC_nontcga_EAS=0.3553;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.3193;ExAC_nontcga_OTH=0.3617;ExAC_nontcga_SAS=0.3827;AF=0.3714;AF_popmax=0.5462;AF_male=0.3752;AF_female=0.3667;AF_raw=0.3712;AF_afr=0.5462;AF_sas=.;AF_amr=0.3131;AF_eas=0.3482;AF_nfe=0.3118;AF_fin=0.2464;AF_asj=0.3138;AF_oth=0.3112;non_topmed_AF_popmax=0.5472;non_neuro_AF_popmax=0.5498;non_cancer_AF_popmax=.;controls_AF_popmax=0.5436;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952146;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9493627;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.254;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.548;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.599;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.391;VEST3_rankscore=0.625;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.411;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.626;Eigen-PC-raw=0.687;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.516;phyloP100way_vertebrate_rankscore=0.970;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.744;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000223542.1|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Ovary|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3128;ExAC_nontcga_ALL=0.3418;ExAC_nontcga_AFR=0.5342;ExAC_nontcga_AMR=0.2864;ExAC_nontcga_EAS=0.3553;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.3193;ExAC_nontcga_OTH=0.3617;ExAC_nontcga_SAS=0.3827;AF=0.3714;AF_popmax=0.5462;AF_male=0.3752;AF_female=0.3667;AF_raw=0.3712;AF_afr=0.5462;AF_sas=.;AF_amr=0.3131;AF_eas=0.3482;AF_nfe=0.3118;AF_fin=0.2464;AF_asj=0.3138;AF_oth=0.3112;non_topmed_AF_popmax=0.5472;non_neuro_AF_popmax=0.5498;non_cancer_AF_popmax=.;controls_AF_popmax=0.5436;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952146;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|1 1|1 1|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|0 1|0 +6 133789737 rs202030718 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20507;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C676A:p.Q226K,EYA4:NM_172103:exon10:c.C769A:p.Q257K,EYA4:NM_001301013:exon11:c.C838A:p.Q280K,EYA4:NM_004100:exon11:c.C838A:p.Q280K,EYA4:NM_172105:exon11:c.C838A:p.Q280K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202030718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.660;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.135;MutationAssessor_score_rankscore=0.884;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.822;MetaSVM_score=0.426;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.722;MetaLR_rankscore=0.905;MetaLR_pred=D;M-CAP_score=0.109;M-CAP_rankscore=0.786;M-CAP_pred=D;REVEL_score=0.743;REVEL_rankscore=0.912;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.764;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.836;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.786;Eigen-PC-raw=0.800;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=7.503;phyloP100way_vertebrate_rankscore=0.803;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.27;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.719e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.213e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942966;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C676A:p.Q226K,EYA4:NM_172103:exon10:c.C769A:p.Q257K,EYA4:NM_001301013:exon11:c.C838A:p.Q280K,EYA4:NM_004100:exon11:c.C838A:p.Q280K,EYA4:NM_172105:exon11:c.C838A:p.Q280K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202030718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.660;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.135;MutationAssessor_score_rankscore=0.884;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.822;MetaSVM_score=0.426;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.722;MetaLR_rankscore=0.905;MetaLR_pred=D;M-CAP_score=0.109;M-CAP_rankscore=0.786;M-CAP_pred=D;REVEL_score=0.743;REVEL_rankscore=0.912;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.764;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.836;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.786;Eigen-PC-raw=0.800;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=7.503;phyloP100way_vertebrate_rankscore=0.803;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.27;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.719e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.213e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942966;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133802542 rs41286202 G A 100 PASS AC=23;AF=0.0283546;AN=214;NS=2504;DP=17330;EAS_AF=0;AMR_AF=0.0476;AFR_AF=0.0076;EUR_AF=0.0825;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41286202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0516;AF_popmax=0.0793;AF_male=0.0527;AF_female=0.0503;AF_raw=0.0518;AF_afr=0.0149;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0793;AF_fin=0.0438;AF_asj=0.0241;AF_oth=0.0579;non_topmed_AF_popmax=0.0771;non_neuro_AF_popmax=0.0791;non_cancer_AF_popmax=.;controls_AF_popmax=0.0772;Kaviar_AF=0.0134022;Kaviar_AC=2072;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702670;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 +6 133802711 rs569333400 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14973;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon10:c.T919C:p.S307P,EYA4:NM_172103:exon11:c.T1012C:p.S338P,EYA4:NM_001301013:exon12:c.T1099C:p.S367P,EYA4:NM_004100:exon12:c.T1081C:p.S361P,EYA4:NM_172105:exon12:c.T1081C:p.S361P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569333400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.073;Polyphen2_HVAR_rankscore=0.655;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.825;MutationAssessor_score_rankscore=0.480;MutationAssessor_pred=L;FATHMM_score=-1.63;FATHMM_converted_rankscore=0.825;FATHMM_pred=D;PROVEAN_score=-3.26;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.745;VEST3_rankscore=0.793;MetaSVM_score=0.488;MetaSVM_rankscore=0.904;MetaSVM_pred=D;MetaLR_score=0.669;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.210;M-CAP_rankscore=0.873;M-CAP_pred=D;REVEL_score=0.779;REVEL_rankscore=0.927;MutPred_score=0.357;MutPred_rankscore=0.360;CADD_raw=4.879;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.998;DANN_rankscore=0.880;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.607;Eigen-PC-raw=0.647;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=7.780;phyloP100way_vertebrate_rankscore=0.842;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=15.901;SiPhy_29way_logOdds_rankscore=0.791;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.950244;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133827354 rs2277083 A G 100 PASS AC=136;AF=0.722244;AN=214;NS=2504;DP=16814;EAS_AF=0.8194;AMR_AF=0.6945;AFR_AF=0.7141;EUR_AF=0.5706;SAS_AF=0.8088;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.722244;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277083;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5607;ExAC_nontcga_ALL=0.6376;ExAC_nontcga_AFR=0.7185;ExAC_nontcga_AMR=0.6875;ExAC_nontcga_EAS=0.7940;ExAC_nontcga_FIN=0.5126;ExAC_nontcga_NFE=0.5657;ExAC_nontcga_OTH=0.6243;ExAC_nontcga_SAS=0.7694;AF=0.6162;AF_popmax=0.7906;AF_male=0.6162;AF_female=0.6162;AF_raw=0.6160;AF_afr=0.7194;AF_sas=.;AF_amr=0.6608;AF_eas=0.7906;AF_nfe=0.5630;AF_fin=0.5184;AF_asj=0.5828;AF_oth=0.5810;non_topmed_AF_popmax=0.7919;non_neuro_AF_popmax=0.7906;non_cancer_AF_popmax=.;controls_AF_popmax=0.7873;Kaviar_AF=0.610561;Kaviar_AC=94394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.146255;ALLELE_END GT 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|0 1|0 1|0 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 +6 133833915 rs200309400 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21759;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon13:c.A1176G:p.L392L,EYA4:NM_172103:exon14:c.A1269G:p.L423L,EYA4:NM_001301013:exon15:c.A1356G:p.L452L,EYA4:NM_004100:exon15:c.A1338G:p.L446L,EYA4:NM_172105:exon15:c.A1338G:p.L446L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200309400;CLNALLELEID=305889;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0009;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.959727;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133836430 rs56378005 G A 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=18764;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56378005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0164;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0080;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0098;ExAC_nontcga_NFE=0.0161;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0094;AF=0.0095;AF_popmax=0.0146;AF_male=0.0088;AF_female=0.0103;AF_raw=0.0095;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0146;AF_fin=0.0072;AF_asj=0.0172;AF_oth=0.0138;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0122961;Kaviar_AC=1901;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.295710;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 133844137 rs41286206 C A 100 PASS AC=28;AF=0.154752;AN=214;NS=2504;DP=16896;EAS_AF=0.131;AMR_AF=0.1153;AFR_AF=0.211;EUR_AF=0.1352;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.154752;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41286206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1516;AF_popmax=0.1950;AF_male=0.1505;AF_female=0.1530;AF_raw=0.1520;AF_afr=0.1950;AF_sas=.;AF_amr=0.0804;AF_eas=0.1346;AF_nfe=0.1414;AF_fin=0.1094;AF_asj=0.2172;AF_oth=0.1464;non_topmed_AF_popmax=0.1941;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1755;Kaviar_AF=0.0290553;Kaviar_AC=4492;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.149425::-0.666949;Heart_Left_Ventricle=Heart_Left_Ventricle::0.157993::-0.599321;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.454046;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 +6 133844339 rs59368621 G C 100 PASS AC=1;AF=0.0373403;AN=214;NS=2504;DP=18354;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.1346;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0373403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59368621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0121;ExAC_nontcga_AFR=0.1317;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0381;AF_popmax=0.1346;AF_male=0.0395;AF_female=0.0364;AF_raw=0.0381;AF_afr=0.1346;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.1344;non_neuro_AF_popmax=0.1327;non_cancer_AF_popmax=.;controls_AF_popmax=0.1359;Kaviar_AF=0.0114099;Kaviar_AC=1764;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.220735;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133849789 rs3822939 A G 100 PASS AC=129;AF=0.770367;AN=214;NS=2504;DP=16839;EAS_AF=0.8194;AMR_AF=0.6916;AFR_AF=0.9281;EUR_AF=0.5477;SAS_AF=0.7914;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.770367;GWAS=rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163;ORegAnno_REGULATORY_P=rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163;avsnp150=rs3822939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6557;AF_popmax=0.8948;AF_male=0.6566;AF_female=0.6547;AF_raw=0.6554;AF_afr=0.8948;AF_sas=.;AF_amr=0.6651;AF_eas=0.7890;AF_nfe=0.5461;AF_fin=0.5144;AF_asj=0.5517;AF_oth=0.5759;non_topmed_AF_popmax=0.8951;non_neuro_AF_popmax=0.8957;non_cancer_AF_popmax=.;controls_AF_popmax=0.8938;Kaviar_AF=0.117159;Kaviar_AC=18113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.737781;ALLELE_END GT 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 1|0 1|0 1|0 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 +6 133849868 rs142721902 C T 100 PASS AC=4;AF=0.0081869;AN=214;NS=2504;DP=17999;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon18:c.C1683T:p.N561N,EYA4:NM_172103:exon19:c.C1776T:p.N592N,EYA4:NM_001301013:exon20:c.C1863T:p.N621N,EYA4:NM_004100:exon20:c.C1845T:p.N615N,EYA4:NM_172105:exon20:c.C1845T:p.N615N;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142721902;CLNALLELEID=44695;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0126;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0269;AF=0.0075;AF_popmax=0.0108;AF_male=0.0077;AF_female=0.0073;AF_raw=0.0075;AF_afr=0.0028;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0035;AF_asj=0.0517;AF_oth=0.0092;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0116751;Kaviar_AC=1805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.960392;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133849966 rs3734279 C T 100 PASS AC=95;AF=0.471046;AN=214;NS=2504;DP=19592;EAS_AF=0.6855;AMR_AF=0.5274;AFR_AF=0.2027;EUR_AF=0.4016;SAS_AF=0.6442;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734279;CLNALLELEID=299116;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3865;ExAC_nontcga_ALL=0.4399;ExAC_nontcga_AFR=0.2292;ExAC_nontcga_AMR=0.5776;ExAC_nontcga_EAS=0.6469;ExAC_nontcga_FIN=0.3959;ExAC_nontcga_NFE=0.3749;ExAC_nontcga_OTH=0.4205;ExAC_nontcga_SAS=0.5966;AF=0.3651;AF_popmax=0.6538;AF_male=0.3631;AF_female=0.3678;AF_raw=0.3651;AF_afr=0.2273;AF_sas=.;AF_amr=0.5389;AF_eas=0.6538;AF_nfe=0.3949;AF_fin=0.4025;AF_asj=0.3276;AF_oth=0.3884;non_topmed_AF_popmax=0.6550;non_neuro_AF_popmax=0.6538;non_cancer_AF_popmax=.;controls_AF_popmax=0.6466;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895395;ALLELE_END GT 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|0 1|1 1|0 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 1|0 +6 152443744 rs2295190 G T 100 PASS AC=25;AF=0.076877;AN=214;NS=2504;DP=19383;EAS_AF=0.0675;AMR_AF=0.0533;AFR_AF=0.0204;EUR_AF=0.1491;SAS_AF=0.1053;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon18:c.C2755A:p.L919M,SYNE1:NM_033071:exon146:c.C26077A:p.L8693M,SYNE1:NM_182961:exon146:c.C26221A:p.L8741M;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295190;CLNALLELEID=135882;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=0.072;LRT_converted_rankscore=0.214;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=1.75;FATHMM_converted_rankscore=0.262;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.402;PROVEAN_pred=N;VEST3_score=0.342;VEST3_rankscore=0.403;MetaSVM_score=-0.983;MetaSVM_rankscore=0.343;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.361;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.671;CADD_raw_rankscore=0.626;CADD_phred=24.5;DANN_score=0.995;DANN_rankscore=0.679;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.358;Eigen-PC-raw=0.230;GenoCanyon_score=0.079;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.627;GERP++_RS_rankscore=0.168;phyloP100way_vertebrate=1.640;phyloP100way_vertebrate_rankscore=0.366;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=8.702;SiPhy_29way_logOdds_rankscore=0.333;Interpro_domain=KASH_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1398;ExAC_nontcga_ALL=0.1170;ExAC_nontcga_AFR=0.0283;ExAC_nontcga_AMR=0.0423;ExAC_nontcga_EAS=0.0612;ExAC_nontcga_FIN=0.2017;ExAC_nontcga_NFE=0.1532;ExAC_nontcga_OTH=0.1268;ExAC_nontcga_SAS=0.0892;AF=0.1200;AF_popmax=0.1616;AF_male=0.1146;AF_female=0.1267;AF_raw=0.1202;AF_afr=0.0319;AF_sas=.;AF_amr=0.0472;AF_eas=0.0553;AF_nfe=0.1616;AF_fin=0.1865;AF_asj=0.1103;AF_oth=0.1746;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1611;non_cancer_AF_popmax=.;controls_AF_popmax=0.1887;Kaviar_AF=0.117728;Kaviar_AC=18201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.824604;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 152443761 rs2295192 C T 100 PASS AC=6;AF=0.0648962;AN=214;NS=2504;DP=19279;EAS_AF=0.0744;AMR_AF=0.062;AFR_AF=0.0643;EUR_AF=0.0447;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon18:c.G2738A:p.R913Q,SYNE1:NM_033071:exon146:c.G26060A:p.R8687Q,SYNE1:NM_182961:exon146:c.G26204A:p.R8735Q;1000g2015aug_all=0.0648962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295192;CLNALLELEID=135880;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.222;SIFT_converted_rankscore=0.586;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_converted_rankscore=0.192;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.145;MutationAssessor_score_rankscore=0.044;MutationAssessor_pred=N;FATHMM_score=0.61;FATHMM_converted_rankscore=0.535;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.159;MetaSVM_score=-0.998;MetaSVM_rankscore=0.304;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_rankscore=0.126;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.625;CADD_raw_rankscore=0.257;CADD_phred=13.99;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.952;Eigen-PC-raw=-0.908;GenoCanyon_score=0.106;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=-0.020;phyloP100way_vertebrate_rankscore=0.124;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=10.065;SiPhy_29way_logOdds_rankscore=0.413;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0335;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.0483;ExAC_nontcga_AMR=0.0869;ExAC_nontcga_EAS=0.0566;ExAC_nontcga_FIN=0.0700;ExAC_nontcga_NFE=0.0392;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0652;AF=0.0494;AF_popmax=0.0719;AF_male=0.0492;AF_female=0.0496;AF_raw=0.0494;AF_afr=0.0481;AF_sas=.;AF_amr=0.0719;AF_eas=0.0540;AF_nfe=0.0444;AF_fin=0.0656;AF_asj=0.0379;AF_oth=0.0570;non_topmed_AF_popmax=0.0741;non_neuro_AF_popmax=0.0686;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0480007;Kaviar_AC=7421;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.664822;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152453291 rs35591210 G A 100 PASS AC=15;AF=0.0257588;AN=214;NS=2504;DP=19209;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0045;EUR_AF=0.0825;SAS_AF=0.0133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon16:c.C2594T:p.T865I,SYNE1:NM_001347701:exon17:c.C2666T:p.T889I,SYNE1:NM_033071:exon144:c.C25916T:p.T8639I,SYNE1:NM_182961:exon144:c.C26060T:p.T8687I;1000g2015aug_all=0.0257588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35591210;CLNALLELEID=135879;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.061;SIFT_converted_rankscore=0.512;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.388;LRT_converted_rankscore=0.133;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.9;MutationAssessor_score_rankscore=0.233;MutationAssessor_pred=L;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.500;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.146;MetaSVM_score=-1.035;MetaSVM_rankscore=0.188;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.228;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.797;CADD_raw_rankscore=0.277;CADD_phred=14.97;DANN_score=0.988;DANN_rankscore=0.452;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.453;Eigen-PC-raw=-0.418;GenoCanyon_score=0.264;GenoCanyon_score_rankscore=0.188;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.62;GERP++_RS_rankscore=0.302;phyloP100way_vertebrate=2.819;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.108;phastCons100way_vertebrate_rankscore=0.227;phastCons20way_mammalian=0.965;phastCons20way_mammalian_rankscore=0.450;SiPhy_29way_logOdds=2.870;SiPhy_29way_logOdds_rankscore=0.052;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0745;ExAC_nontcga_ALL=0.0492;ExAC_nontcga_AFR=0.0117;ExAC_nontcga_AMR=0.0315;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0640;ExAC_nontcga_NFE=0.0732;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0204;AF=0.0510;AF_popmax=0.0775;AF_male=0.0510;AF_female=0.0509;AF_raw=0.0511;AF_afr=0.0131;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0775;AF_fin=0.0578;AF_asj=0.0552;AF_oth=0.0470;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0754;Kaviar_AF=0.0534857;Kaviar_AC=8269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.069594;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 +6 152456437 rs560682510 A C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19559;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560682510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152456438 rs117389517 A C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19650;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117389517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0093;AF_popmax=0.0136;AF_male=0.0089;AF_female=0.0098;AF_raw=0.0093;AF_afr=0.0026;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0101;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0141;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0026326;Kaviar_AC=407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152457897 rs144459490 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20027;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon13:c.C2049T:p.C683C,SYNE1:NM_001347701:exon14:c.C2121T:p.C707C,SYNE1:NM_033071:exon141:c.C25371T:p.C8457C,SYNE1:NM_182961:exon141:c.C25515T:p.C8505C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144459490;CLNALLELEID=272899;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.383771;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152461061 rs3818110 G A 100 PASS AC=99;AF=0.444489;AN=214;NS=2504;DP=15992;EAS_AF=0.2966;AMR_AF=0.5389;AFR_AF=0.5492;EUR_AF=0.4046;SAS_AF=0.4294;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.444489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3818110;CLNALLELEID=252157;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3941;ExAC_nontcga_ALL=0.4012;ExAC_nontcga_AFR=0.5257;ExAC_nontcga_AMR=0.5463;ExAC_nontcga_EAS=0.2911;ExAC_nontcga_FIN=0.2470;ExAC_nontcga_NFE=0.3698;ExAC_nontcga_OTH=0.3916;ExAC_nontcga_SAS=0.4522;AF=0.3980;AF_popmax=0.5236;AF_male=0.4025;AF_female=0.3923;AF_raw=0.4005;AF_afr=0.5231;AF_sas=.;AF_amr=0.5236;AF_eas=0.2854;AF_nfe=0.3635;AF_fin=0.2594;AF_asj=0.4965;AF_oth=0.3703;non_topmed_AF_popmax=0.5322;non_neuro_AF_popmax=0.5238;non_cancer_AF_popmax=.;controls_AF_popmax=0.5300;Kaviar_AF=0.392032;Kaviar_AC=60609;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.006134;ALLELE_END GT 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|1 1|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152461162 rs119103248 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16242;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon12:c.G1915A:p.E639K,SYNE1:NM_001347701:exon13:c.G1987A:p.E663K,SYNE1:NM_033071:exon140:c.G25237A:p.E8413K,SYNE1:NM_182961:exon140:c.G25381A:p.E8461K;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs119103248;CLNALLELEID=17373;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.157;SIFT_converted_rankscore=0.250;SIFT_pred=T;Polyphen2_HDIV_score=0.615;Polyphen2_HDIV_rankscore=0.379;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.438;Polyphen2_HVAR_rankscore=0.479;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.735;MutationAssessor_score_rankscore=0.802;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_converted_rankscore=0.521;PROVEAN_pred=N;VEST3_score=0.623;VEST3_rankscore=0.835;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.181;MetaLR_rankscore=0.528;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.434;M-CAP_pred=T;REVEL_score=0.187;REVEL_rankscore=0.468;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.590;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.957;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.659;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.372;Eigen-PC-raw=0.460;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=3.406;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.804;phastCons20way_mammalian_rankscore=0.337;SiPhy_29way_logOdds=20.321;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483013;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152462480 rs139671151 C A 100 PASS AC=6;AF=0.00559105;AN=214;NS=2504;DP=17937;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139671151;CLNALLELEID=252158;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0097;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0095;AF=0.0047;AF_popmax=0.0189;AF_male=0.0052;AF_female=0.0040;AF_raw=0.0047;AF_afr=0.0020;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0020;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0074061;Kaviar_AC=1145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.234411;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152462524 rs73780335 C T 100 PASS AC=1;AF=0.0303514;AN=214;NS=2504;DP=18072;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.1104;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0303514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73780335;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0265;AF_popmax=0.0943;AF_male=0.0280;AF_female=0.0246;AF_raw=0.0266;AF_afr=0.0943;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0942;non_neuro_AF_popmax=0.0846;non_cancer_AF_popmax=.;controls_AF_popmax=0.0827;Kaviar_AF=0.0083372;Kaviar_AC=217;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152464839 rs2256135 A G 100 PASS AC=123;AF=0.689696;AN=214;NS=2504;DP=19631;EAS_AF=0.6865;AMR_AF=0.7118;AFR_AF=0.7844;EUR_AF=0.5447;SAS_AF=0.6984;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon10:c.T1572C:p.R524R,SYNE1:NM_001347701:exon11:c.T1644C:p.R548R,SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R;1000g2015aug_all=0.689696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2256135;CLNALLELEID=135876;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5564;ExAC_nontcga_ALL=0.6150;ExAC_nontcga_AFR=0.7589;ExAC_nontcga_AMR=0.7299;ExAC_nontcga_EAS=0.7036;ExAC_nontcga_FIN=0.4930;ExAC_nontcga_NFE=0.5468;ExAC_nontcga_OTH=0.5980;ExAC_nontcga_SAS=0.6903;AF=0.6141;AF_popmax=0.7558;AF_male=0.6160;AF_female=0.6117;AF_raw=0.6140;AF_afr=0.7558;AF_sas=.;AF_amr=0.7151;AF_eas=0.6958;AF_nfe=0.5460;AF_fin=0.4986;AF_asj=0.6;AF_oth=0.6234;non_topmed_AF_popmax=0.7563;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7459;Kaviar_AF=0.602735;Kaviar_AC=93184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051753;ALLELE_END GT 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 1|0 1|1 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|1 1|1 0|1 1|0 0|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 +6 152466578 rs74709220 A C 100 PASS AC=2;AF=0.0567093;AN=214;NS=2504;DP=17164;EAS_AF=0.128;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.1544;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74709220;CLNALLELEID=252159;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0347;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.1222;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0418;ExAC_nontcga_SAS=0.1381;AF=0.0116;AF_popmax=0.1093;AF_male=0.0122;AF_female=0.0108;AF_raw=0.0117;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.1093;AF_nfe=0.0087;AF_fin=0.0060;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1149;Kaviar_AF=0.0285766;Kaviar_AC=4418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.368461;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152466582 rs2813487 A G 100 PASS AC=79;AF=0.381589;AN=214;NS=2504;DP=17258;EAS_AF=0.2073;AMR_AF=0.513;AFR_AF=0.4728;EUR_AF=0.33;SAS_AF=0.3978;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.381589;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2813487;CLNALLELEID=252160;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3359;ExAC_nontcga_ALL=0.3634;ExAC_nontcga_AFR=0.4553;ExAC_nontcga_AMR=0.5316;ExAC_nontcga_EAS=0.2993;ExAC_nontcga_FIN=0.2332;ExAC_nontcga_NFE=0.3207;ExAC_nontcga_OTH=0.3582;ExAC_nontcga_SAS=0.4221;AF=0.3513;AF_popmax=0.5190;AF_male=0.3550;AF_female=0.3467;AF_raw=0.3515;AF_afr=0.4509;AF_sas=.;AF_amr=0.5190;AF_eas=0.2976;AF_nfe=0.3173;AF_fin=0.2332;AF_asj=0.4241;AF_oth=0.3435;non_topmed_AF_popmax=0.5236;non_neuro_AF_popmax=0.5055;non_cancer_AF_popmax=.;controls_AF_popmax=0.4797;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.298421;ALLELE_END GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152466674 rs2747662 T C 100 PASS AC=79;AF=0.366214;AN=214;NS=2504;DP=17781;EAS_AF=0.2976;AMR_AF=0.5058;AFR_AF=0.3389;EUR_AF=0.331;SAS_AF=0.411;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon9:c.A1458G:p.E486E,SYNE1:NM_033071:exon137:c.A24780G:p.E8260E;1000g2015aug_all=0.366214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2747662;CLNALLELEID=135875;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3301;ExAC_nontcga_ALL=0.3469;ExAC_nontcga_AFR=0.3415;ExAC_nontcga_AMR=0.5209;ExAC_nontcga_EAS=0.2945;ExAC_nontcga_FIN=0.2272;ExAC_nontcga_NFE=0.3142;ExAC_nontcga_OTH=0.3487;ExAC_nontcga_SAS=0.4124;AF=0.3162;AF_popmax=0.5071;AF_male=0.3183;AF_female=0.3137;AF_raw=0.3168;AF_afr=0.3365;AF_sas=.;AF_amr=0.5071;AF_eas=0.2922;AF_nfe=0.3136;AF_fin=0.2272;AF_asj=0.4138;AF_oth=0.3364;non_topmed_AF_popmax=0.5149;non_neuro_AF_popmax=0.4928;non_cancer_AF_popmax=.;controls_AF_popmax=0.4675;Kaviar_AF=0.342117;Kaviar_AC=52892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.036820;ALLELE_END GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152469188 rs2252755 C G 100 PASS AC=81;AF=0.399361;AN=214;NS=2504;DP=19254;EAS_AF=0.2986;AMR_AF=0.5115;AFR_AF=0.4576;EUR_AF=0.333;SAS_AF=0.4131;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1433C:p.G478A,SYNE1:NM_001347701:exon10:c.G1574C:p.G525A,SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A;1000g2015aug_all=0.399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252755;CLNALLELEID=135874;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.696;Polyphen2_HDIV_rankscore=0.398;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.338;Polyphen2_HVAR_rankscore=0.405;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.408;LRT_pred=D;MutationTaster_score=0.810;MutationTaster_converted_rankscore=0.311;MutationTaster_pred=P;MutationAssessor_score=0.58;MutationAssessor_score_rankscore=0.154;MutationAssessor_pred=N;FATHMM_score=0.85;FATHMM_converted_rankscore=0.471;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.334;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.199;MetaSVM_score=-1.079;MetaSVM_rankscore=0.075;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.218;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.755;CADD_raw_rankscore=0.166;CADD_phred=9.179;DANN_score=0.226;DANN_rankscore=0.009;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.207;Eigen-PC-raw=-0.060;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=3.438;phyloP100way_vertebrate_rankscore=0.524;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.980;phastCons100way_vertebrate_rankscore=0.350;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.033;SiPhy_29way_logOdds_rankscore=0.929;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3373;ExAC_nontcga_ALL=0.3602;ExAC_nontcga_AFR=0.4444;ExAC_nontcga_AMR=0.5265;ExAC_nontcga_EAS=0.2964;ExAC_nontcga_FIN=0.2275;ExAC_nontcga_NFE=0.3194;ExAC_nontcga_OTH=0.3573;ExAC_nontcga_SAS=0.4196;AF=0.3500;AF_popmax=0.5177;AF_male=0.3540;AF_female=0.3450;AF_raw=0.3501;AF_afr=0.4441;AF_sas=.;AF_amr=0.5177;AF_eas=0.2985;AF_nfe=0.3186;AF_fin=0.2311;AF_asj=0.4310;AF_oth=0.3444;non_topmed_AF_popmax=0.5235;non_neuro_AF_popmax=0.5054;non_cancer_AF_popmax=.;controls_AF_popmax=0.4797;Kaviar_AF=0.355202;Kaviar_AC=54915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.285969;ALLELE_END GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152469204 rs141716975 G A 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18884;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.C1417T:p.L473F,SYNE1:NM_001347701:exon10:c.C1558T:p.L520F,SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141716975;CLNALLELEID=191466;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_rankscore=0.514;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.391;Polyphen2_HVAR_rankscore=0.488;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=0.724;MutationTaster_converted_rankscore=0.336;MutationTaster_pred=D;MutationAssessor_score=2.79;MutationAssessor_score_rankscore=0.817;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_converted_rankscore=0.551;FATHMM_pred=T;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.589;PROVEAN_pred=D;VEST3_score=0.297;VEST3_rankscore=0.357;MetaSVM_score=-0.913;MetaSVM_rankscore=0.465;MetaSVM_pred=T;MetaLR_score=0.130;MetaLR_rankscore=0.440;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.542;M-CAP_pred=D;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.924;CADD_raw_rankscore=0.412;CADD_phred=22.0;DANN_score=0.990;DANN_rankscore=0.496;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.173;Eigen-PC-raw=0.137;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.45;GERP++_RS_rankscore=0.384;phyloP100way_vertebrate=5.924;phyloP100way_vertebrate_rankscore=0.696;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.784;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0044;ExAC_nontcga_NFE=0.0075;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0066;AF=0.0057;AF_popmax=0.0093;AF_male=0.0051;AF_female=0.0065;AF_raw=0.0057;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0035;AF_asj=0.0138;AF_oth=0.0064;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000414|hsa-let-7g-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.885134;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152469331 rs2252748 C T 100 PASS AC=66;AF=0.339457;AN=214;NS=2504;DP=18551;EAS_AF=0.2976;AMR_AF=0.4597;AFR_AF=0.3079;EUR_AF=0.2833;SAS_AF=0.3978;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1290A:p.P430P,SYNE1:NM_001347701:exon10:c.G1431A:p.P477P,SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P;1000g2015aug_all=0.339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252748;CLNALLELEID=135873;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2944;ExAC_nontcga_ALL=0.3149;ExAC_nontcga_AFR=0.3081;ExAC_nontcga_AMR=0.4913;ExAC_nontcga_EAS=0.2930;ExAC_nontcga_FIN=0.1824;ExAC_nontcga_NFE=0.2729;ExAC_nontcga_OTH=0.3020;ExAC_nontcga_SAS=0.4015;AF=0.2847;AF_popmax=0.4633;AF_male=0.288;AF_female=0.2806;AF_raw=0.2847;AF_afr=0.3044;AF_sas=.;AF_amr=0.4633;AF_eas=0.2982;AF_nfe=0.2805;AF_fin=0.1941;AF_asj=0.3576;AF_oth=0.2998;non_topmed_AF_popmax=0.4702;non_neuro_AF_popmax=0.44;non_cancer_AF_popmax=.;controls_AF_popmax=0.4303;Kaviar_AF=0.309795;Kaviar_AC=47895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461894;ALLELE_END GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152469354 rs527527845 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18341;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1267A:p.E423K,SYNE1:NM_001347701:exon10:c.G1408A:p.E470K,SYNE1:NM_033071:exon136:c.G24589A:p.E8197K,SYNE1:NM_182961:exon137:c.G24802A:p.E8268K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527527845;CLNALLELEID=585928;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.485;Polyphen2_HVAR_rankscore=0.613;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.085;MutationAssessor_score_rankscore=0.876;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.714;PROVEAN_pred=D;VEST3_score=0.62;VEST3_rankscore=0.770;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.335;MetaLR_rankscore=0.702;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.716;M-CAP_pred=D;REVEL_score=0.289;REVEL_rankscore=0.612;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.962;CADD_raw_rankscore=0.935;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.978;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.804;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=5.845;phyloP100way_vertebrate_rankscore=0.689;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.621;phastCons20way_mammalian_rankscore=0.293;SiPhy_29way_logOdds=15.752;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.538e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=0;AF_female=7.184e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.029e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.622014;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 152469433 rs141586001 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19021;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.C1188G:p.H396Q,SYNE1:NM_001347701:exon10:c.C1329G:p.H443Q,SYNE1:NM_033071:exon136:c.C24510G:p.H8170Q,SYNE1:NM_182961:exon137:c.C24723G:p.H8241Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141586001;CLNALLELEID=191469;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.361;SIFT_converted_rankscore=0.140;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.255;LRT_converted_rankscore=0.154;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.201;MutationTaster_pred=N;MutationAssessor_score=1.27;MutationAssessor_score_rankscore=0.322;MutationAssessor_pred=L;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.045;MetaSVM_score=-1.040;MetaSVM_rankscore=0.173;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.070;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.057;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.526;CADD_raw_rankscore=0.016;CADD_phred=0.002;DANN_score=0.615;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.052;fathmm-MKL_coding_rankscore=0.109;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.199;Eigen-PC-raw=-2.299;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-10.5;GERP++_RS_rankscore=0.002;phyloP100way_vertebrate=-1.185;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=-3.948;phyloP20way_mammalian_rankscore=0.000;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.009;phastCons20way_mammalian_rankscore=0.108;SiPhy_29way_logOdds=3.123;SiPhy_29way_logOdds_rankscore=0.060;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.429159;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152470752 rs17082236 C A 100 PASS AC=22;AF=0.115615;AN=214;NS=2504;DP=19066;EAS_AF=0.001;AMR_AF=0.0865;AFR_AF=0.3283;EUR_AF=0.0646;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon7:c.G967T:p.A323S,SYNE1:NM_001347701:exon9:c.G1108T:p.A370S,SYNE1:NM_033071:exon135:c.G24289T:p.A8097S,SYNE1:NM_182961:exon136:c.G24502T:p.A8168S;1000g2015aug_all=0.115615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082236;CLNALLELEID=135872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.433;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.303;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.252;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.043;VEST3_rankscore=0.036;MetaSVM_score=-1.055;MetaSVM_rankscore=0.131;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_rankscore=0.115;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.796;CADD_raw_rankscore=0.397;CADD_phred=21.3;DANN_score=0.990;DANN_rankscore=0.493;fathmm-MKL_coding_score=0.894;fathmm-MKL_coding_rankscore=0.495;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.495;Eigen-PC-raw=-0.297;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.373;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.96;GERP++_RS_rankscore=0.449;phyloP100way_vertebrate=1.575;phyloP100way_vertebrate_rankscore=0.359;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.982;SiPhy_29way_logOdds_rankscore=0.465;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0548;ExAC_nontcga_ALL=0.0668;ExAC_nontcga_AFR=0.2928;ExAC_nontcga_AMR=0.0526;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0449;ExAC_nontcga_NFE=0.0560;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.0280;AF=0.1125;AF_popmax=0.2938;AF_male=0.1166;AF_female=0.1073;AF_raw=0.1127;AF_afr=0.2938;AF_sas=.;AF_amr=0.0825;AF_eas=0;AF_nfe=0.0438;AF_fin=0.0374;AF_asj=0.1103;AF_oth=0.0627;non_topmed_AF_popmax=0.2938;non_neuro_AF_popmax=0.2872;non_cancer_AF_popmax=.;controls_AF_popmax=0.2902;Kaviar_AF=0.0668038;Kaviar_AC=10328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.193134;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152472631 rs2881823 A G 100 PASS AC=13;AF=0.024361;AN=214;NS=2504;DP=17696;EAS_AF=0.001;AMR_AF=0.0447;AFR_AF=0.0234;EUR_AF=0.0477;SAS_AF=0.0112;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.024361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2881823;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0313;AF_popmax=0.0401;AF_male=0.0301;AF_female=0.0329;AF_raw=0.0313;AF_afr=0.0268;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0352;AF_asj=0.0552;AF_oth=0.0377;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0487;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0068304;Kaviar_AC=1056;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.811193;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152472660 rs2348080 T A 100 PASS AC=14;AF=0.0317492;AN=214;NS=2504;DP=17183;EAS_AF=0.001;AMR_AF=0.0476;AFR_AF=0.0446;EUR_AF=0.0487;SAS_AF=0.0174;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0317492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2348080;CLNALLELEID=252161;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.0378;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.0318;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0466;ExAC_nontcga_NFE=0.0476;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0181;AF=0.0394;AF_popmax=0.0478;AF_male=0.0384;AF_female=0.0407;AF_raw=0.0394;AF_afr=0.0478;AF_sas=.;AF_amr=0.0460;AF_eas=0;AF_nfe=0.0379;AF_fin=0.0371;AF_asj=0.0828;AF_oth=0.0404;non_topmed_AF_popmax=0.0476;non_neuro_AF_popmax=0.0560;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0381302;Kaviar_AC=5895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.961588;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152473136 rs533136794 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon5:c.C735A:p.D245E,SYNE1:NM_001347701:exon7:c.C876A:p.D292E,SYNE1:NM_033071:exon133:c.C24057A:p.D8019E,SYNE1:NM_182961:exon134:c.C24270A:p.D8090E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533136794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.78;MutationAssessor_score_rankscore=0.814;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_converted_rankscore=0.460;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_converted_rankscore=0.735;PROVEAN_pred=D;VEST3_score=0.775;VEST3_rankscore=0.788;MetaSVM_score=-0.825;MetaSVM_rankscore=0.537;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.554;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.433;M-CAP_pred=T;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=0.225;MutPred_rankscore=0.150;CADD_raw=5.447;CADD_raw_rankscore=0.739;CADD_phred=26.1;DANN_score=0.997;DANN_rankscore=0.839;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_rankscore=0.528;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.738;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=4.440;phyloP100way_vertebrate_rankscore=0.595;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.131;SiPhy_29way_logOdds_rankscore=0.586;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.725408;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152473181 rs910415 T C 100 PASS AC=14;AF=0.0365415;AN=214;NS=2504;DP=20195;EAS_AF=0.001;AMR_AF=0.0476;AFR_AF=0.0628;EUR_AF=0.0487;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon5:c.A690G:p.A230A,SYNE1:NM_001347701:exon7:c.A831G:p.A277A,SYNE1:NM_033071:exon133:c.A24012G:p.A8004A,SYNE1:NM_182961:exon134:c.A24225G:p.A8075A;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs910415;CLNALLELEID=135871;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0441;ExAC_nontcga_ALL=0.0391;ExAC_nontcga_AFR=0.0611;ExAC_nontcga_AMR=0.0324;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0468;ExAC_nontcga_NFE=0.0477;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0181;AF=0.0433;AF_popmax=0.0610;AF_male=0.0422;AF_female=0.0446;AF_raw=0.0433;AF_afr=0.0610;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.0381;AF_fin=0.0374;AF_asj=0.0828;AF_oth=0.0404;non_topmed_AF_popmax=0.0611;non_neuro_AF_popmax=0.0600;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.039799;Kaviar_AC=6153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.283014;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152476985 rs538693331 T G 100 PASS AC=5;AF=0.057508;AN=214;NS=2504;DP=17112;EAS_AF=0.1488;AMR_AF=0.0605;AFR_AF=0.0166;EUR_AF=0.0676;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.057508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538693331;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.011065;Kaviar_AC=288;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152497500 rs41292868 C T 100 PASS AC=12;AF=0.0225639;AN=214;NS=2504;DP=18080;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.003;EUR_AF=0.0696;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292868;CLNALLELEID=252163;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0597;ExAC_nontcga_ALL=0.0388;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.0342;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0318;ExAC_nontcga_NFE=0.0589;ExAC_nontcga_OTH=0.0490;ExAC_nontcga_SAS=0.0129;AF=0.0382;AF_popmax=0.0574;AF_male=0.0388;AF_female=0.0375;AF_raw=0.0383;AF_afr=0.0103;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0574;AF_fin=0.0374;AF_asj=0.0276;AF_oth=0.0487;non_topmed_AF_popmax=0.0532;non_neuro_AF_popmax=0.0589;non_cancer_AF_popmax=.;controls_AF_popmax=0.0527;Kaviar_AF=0.039896;Kaviar_AC=6168;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.696224;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +6 152501313 rs147189751 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17558;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347701:exon2:c.T24C:p.N8N,SYNE1:NM_033071:exon128:c.T23205C:p.N7735N,SYNE1:NM_182961:exon129:c.T23418C:p.N7806N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147189751;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.103215;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152510429 rs139590550 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=13873;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon127:c.C23046T:p.R7682R,SYNE1:NM_182961:exon128:c.C23259T:p.R7753R;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139590550;CLNALLELEID=266935;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0017;AF=0.0012;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0011;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940664;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152510573 rs2635460 G A 100 PASS AC=1;AF=0.0680911;AN=214;NS=2504;DP=15578;EAS_AF=0.0843;AMR_AF=0.0245;AFR_AF=0.1566;EUR_AF=0.0089;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2635460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0363;ExAC_nontcga_AFR=0.1287;ExAC_nontcga_AMR=0.0630;ExAC_nontcga_EAS=0.1120;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0220;AF=0.0502;AF_popmax=0.1265;AF_male=0.0506;AF_female=0.0496;AF_raw=0.0502;AF_afr=0.1265;AF_sas=.;AF_amr=0.0485;AF_eas=0.1133;AF_nfe=0.0084;AF_fin=0.0265;AF_asj=0.0069;AF_oth=0.0304;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1241;non_cancer_AF_popmax=.;controls_AF_popmax=0.1276;Kaviar_AF=0.0321406;Kaviar_AC=4969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152522926 rs2253512 G A 100 PASS AC=47;AF=0.134585;AN=214;NS=2504;DP=16999;EAS_AF=0.1419;AMR_AF=0.147;AFR_AF=0.0605;EUR_AF=0.2127;SAS_AF=0.138;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.134585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253512;CLNALLELEID=252165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1767;ExAC_nontcga_ALL=0.1481;ExAC_nontcga_AFR=0.0657;ExAC_nontcga_AMR=0.1266;ExAC_nontcga_EAS=0.1361;ExAC_nontcga_FIN=0.1372;ExAC_nontcga_NFE=0.1720;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.1392;AF=0.1362;AF_popmax=0.1764;AF_male=0.1362;AF_female=0.1362;AF_raw=0.1364;AF_afr=0.0610;AF_sas=.;AF_amr=0.1572;AF_eas=0.1343;AF_nfe=0.1764;AF_fin=0.1299;AF_asj=0.1655;AF_oth=0.1682;non_topmed_AF_popmax=0.1804;non_neuro_AF_popmax=0.1752;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.14939;Kaviar_AC=23096;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031737;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|0 0|0 0|1 0|0 +6 152523143 rs2635441 G A 100 PASS AC=141;AF=0.645567;AN=214;NS=2504;DP=17649;EAS_AF=0.626;AMR_AF=0.7176;AFR_AF=0.6793;EUR_AF=0.5934;SAS_AF=0.6227;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.645567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2635441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5901;AF_popmax=0.6934;AF_male=0.5941;AF_female=0.5852;AF_raw=0.5898;AF_afr=0.6341;AF_sas=.;AF_amr=0.6934;AF_eas=0.6360;AF_nfe=0.5840;AF_fin=0.4673;AF_asj=0.5655;AF_oth=0.5753;non_topmed_AF_popmax=0.6889;non_neuro_AF_popmax=0.6949;non_cancer_AF_popmax=.;controls_AF_popmax=0.7398;Kaviar_AF=0.0003842;Kaviar_AC=10;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.201005;ALLELE_END GT 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 0|0 1|1 0|1 0|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 0|0 1|1 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|1 1|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 +6 152529122 rs34630198 G A 100 PASS AC=3;AF=0.00339457;AN=214;NS=2504;DP=21001;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22596T:p.L7532L,SYNE1:NM_182961:exon125:c.C22809T:p.L7603L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34630198;CLNALLELEID=135870;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0242;ExAC_nontcga_NFE=0.0167;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0024;AF=0.0134;AF_popmax=0.0190;AF_male=0.0133;AF_female=0.0136;AF_raw=0.0135;AF_afr=0.0034;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0190;AF_fin=0.0222;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0188;non_cancer_AF_popmax=.;controls_AF_popmax=0.0183;Kaviar_AF=0.0117851;Kaviar_AC=1822;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.448078;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152529260 rs3798756 G A 100 PASS AC=29;AF=0.155152;AN=214;NS=2504;DP=15324;EAS_AF=0.2133;AMR_AF=0.2378;AFR_AF=0.1067;EUR_AF=0.1272;SAS_AF=0.1309;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3798756;CLNALLELEID=135869;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1341;ExAC_nontcga_ALL=0.1448;ExAC_nontcga_AFR=0.1166;ExAC_nontcga_AMR=0.2096;ExAC_nontcga_EAS=0.2278;ExAC_nontcga_FIN=0.0878;ExAC_nontcga_NFE=0.1319;ExAC_nontcga_OTH=0.1470;ExAC_nontcga_SAS=0.1422;AF=0.1238;AF_popmax=0.2153;AF_male=0.1257;AF_female=0.1213;AF_raw=0.1237;AF_afr=0.1193;AF_sas=.;AF_amr=0.1958;AF_eas=0.2153;AF_nfe=0.1217;AF_fin=0.0873;AF_asj=0.1319;AF_oth=0.1169;non_topmed_AF_popmax=0.2167;non_neuro_AF_popmax=0.2153;non_cancer_AF_popmax=.;controls_AF_popmax=0.2063;Kaviar_AF=0.140451;Kaviar_AC=21714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.640757;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +6 152532702 rs35763277 T C 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=17739;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon123:c.A22303G:p.S7435G,SYNE1:NM_182961:exon124:c.A22516G:p.S7506G;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35763277;CLNALLELEID=135868;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.06;SIFT_converted_rankscore=0.386;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=-2.93;PROVEAN_converted_rankscore=0.612;PROVEAN_pred=D;VEST3_score=0.213;VEST3_rankscore=0.764;MetaSVM_score=-0.631;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_rankscore=0.605;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.408;REVEL_rankscore=0.723;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.017;CADD_raw_rankscore=0.828;CADD_phred=27.9;DANN_score=0.999;DANN_rankscore=0.964;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.803;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.788;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.62;GERP++_RS_rankscore=0.857;phyloP100way_vertebrate=7.895;phyloP100way_vertebrate_rankscore=0.858;phyloP20way_mammalian=1.058;phyloP20way_mammalian_rankscore=0.762;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.120;SiPhy_29way_logOdds_rankscore=0.811;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0171;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0267;ExAC_nontcga_NFE=0.0212;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0029;AF=0.0114;AF_popmax=0.0143;AF_male=0.0112;AF_female=0.0117;AF_raw=0.0115;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0265;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0133439;Kaviar_AC=2063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0929036|N/A|MAFK|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.296241;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152534768 rs34891041 C T 100 PASS AC=5;AF=0.0205671;AN=214;NS=2504;DP=18365;EAS_AF=0.0129;AMR_AF=0.0173;AFR_AF=0.0378;EUR_AF=0.0249;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.G22260A:p.L7420L,SYNE1:NM_182961:exon123:c.G22473A:p.L7491L;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34891041;CLNALLELEID=135867;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0271;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0459;ExAC_nontcga_AMR=0.0068;ExAC_nontcga_EAS=0.0057;ExAC_nontcga_FIN=0.0343;ExAC_nontcga_NFE=0.0334;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0065;AF=0.0330;AF_popmax=0.0514;AF_male=0.0336;AF_female=0.0321;AF_raw=0.0329;AF_afr=0.0514;AF_sas=.;AF_amr=0.0059;AF_eas=0.0064;AF_nfe=0.0273;AF_fin=0.0331;AF_asj=0.0103;AF_oth=0.0294;non_topmed_AF_popmax=0.0515;non_neuro_AF_popmax=0.0493;non_cancer_AF_popmax=.;controls_AF_popmax=0.0509;Kaviar_AF=0.0249609;Kaviar_AC=3859;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.136858;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +6 152534789 rs36044575 T C 100 PASS AC=6;AF=0.0135783;AN=214;NS=2504;DP=18384;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0038;EUR_AF=0.0537;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.A22239G:p.S7413S,SYNE1:NM_182961:exon123:c.A22452G:p.S7484S;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36044575;CLNALLELEID=135866;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0302;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0912;ExAC_nontcga_NFE=0.0358;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0038;AF=0.0346;AF_popmax=0.0423;AF_male=0.0327;AF_female=0.0370;AF_raw=0.0347;AF_afr=0.0050;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0423;AF_fin=0.0906;AF_asj=0;AF_oth=0.0597;non_topmed_AF_popmax=0.0452;non_neuro_AF_popmax=0.0426;non_cancer_AF_popmax=.;controls_AF_popmax=0.0589;Kaviar_AF=0.0245275;Kaviar_AC=3792;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.091516;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152534946 rs684807 T A 100 PASS AC=214;AF=0.997005;AN=214;NS=2504;DP=19894;EAS_AF=1;AMR_AF=0.9928;AFR_AF=0.9992;EUR_AF=0.9911;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs684807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9890;ExAC_nontcga_ALL=0.9940;ExAC_nontcga_AFR=0.9982;ExAC_nontcga_AMR=0.9955;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9930;ExAC_nontcga_NFE=0.9904;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9996;AF=0.9930;AF_popmax=1;AF_male=0.9930;AF_female=0.9931;AF_raw=0.9930;AF_afr=0.9987;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9893;AF_fin=0.9925;AF_asj=0.9862;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0099934;Kaviar_AC=1545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152534947 rs2763029 T A 100 PASS AC=83;AF=0.307508;AN=214;NS=2504;DP=19955;EAS_AF=0.2351;AMR_AF=0.3055;AFR_AF=0.2814;EUR_AF=0.4543;SAS_AF=0.2679;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2763029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4017;AF_popmax=0.4550;AF_male=0.3967;AF_female=0.4081;AF_raw=0.4017;AF_afr=0.3037;AF_sas=.;AF_amr=0.3377;AF_eas=0.1832;AF_nfe=0.4550;AF_fin=0.5141;AF_asj=0.4276;AF_oth=0.4300;non_topmed_AF_popmax=0.4558;non_neuro_AF_popmax=0.4573;non_cancer_AF_popmax=.;controls_AF_popmax=0.4788;Kaviar_AF=0.0625154;Kaviar_AC=9665;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 1|0 0|0 1|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 1|1 1|1 0|1 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 +6 152539350 rs9371243 C G 100 PASS AC=33;AF=0.279153;AN=214;NS=2504;DP=15498;EAS_AF=0.5347;AMR_AF=0.2233;AFR_AF=0.0938;EUR_AF=0.2058;SAS_AF=0.3814;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371243;CLNALLELEID=252167;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2219;ExAC_nontcga_ALL=0.2655;ExAC_nontcga_AFR=0.1167;ExAC_nontcga_AMR=0.2619;ExAC_nontcga_EAS=0.5801;ExAC_nontcga_FIN=0.3405;ExAC_nontcga_NFE=0.2197;ExAC_nontcga_OTH=0.2522;ExAC_nontcga_SAS=0.3216;AF=0.2262;AF_popmax=0.5682;AF_male=0.2232;AF_female=0.2301;AF_raw=0.2264;AF_afr=0.1141;AF_sas=.;AF_amr=0.2173;AF_eas=0.5682;AF_nfe=0.2272;AF_fin=0.3429;AF_asj=0.2793;AF_oth=0.25;non_topmed_AF_popmax=0.5659;non_neuro_AF_popmax=0.5682;non_cancer_AF_popmax=.;controls_AF_popmax=0.5660;Kaviar_AF=0.244719;Kaviar_AC=37834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152539515 rs35686213 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13752;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon120:c.C21855T:p.T7285T,SYNE1:NM_182961:exon121:c.C22068T:p.T7356T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35686213;CLNALLELEID=266366;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.901909;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152539572 rs528368656;rs35809482 TA TAA,T 100 PASS AC=31,57;AF=0.0453275,0.404952;AN=214;NS=2504;DP=13594;EAS_AF=0.001,0.4772;AMR_AF=0.0476,0.4395;AFR_AF=0.0424,0.382;EUR_AF=0.1153,0.3221;SAS_AF=0.0215,0.4223;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.662064;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.404952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35809482;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5183;ExAC_nontcga_AFR=0.4897;ExAC_nontcga_AMR=0.6836;ExAC_nontcga_EAS=0.7225;ExAC_nontcga_FIN=0.5804;ExAC_nontcga_NFE=0.4534;ExAC_nontcga_OTH=0.4985;ExAC_nontcga_SAS=0.5161;AF=0.4896;AF_popmax=0.7591;AF_male=0.4831;AF_female=0.4978;AF_raw=0.4831;AF_afr=0.4790;AF_sas=.;AF_amr=0.6189;AF_eas=0.7591;AF_nfe=0.4481;AF_fin=0.5631;AF_asj=0.4664;AF_oth=0.4843;non_topmed_AF_popmax=0.7563;non_neuro_AF_popmax=0.7591;non_cancer_AF_popmax=.;controls_AF_popmax=0.7489;Kaviar_AF=0.0046183;Kaviar_AC=714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.662064;ALLELE_END GT 0|2 0|0 0|1 2|0 2|0 1|0 0|2 2|0 0|0 2|0 0|2 2|0 2|0 0|0 0|2 0|2 0|0 2|0 0|1 1|0 0|2 2|2 2|0 0|2 0|1 0|0 0|0 0|0 0|2 2|0 0|2 2|0 2|2 0|2 1|0 0|2 0|0 0|0 1|0 2|0 0|0 2|1 0|1 0|1 0|0 0|0 2|0 0|1 1|2 0|0 0|0 2|0 0|0 0|1 0|2 2|1 0|1 2|0 1|0 0|0 0|2 0|0 0|2 2|0 0|0 1|0 2|0 0|1 2|0 2|1 2|0 2|0 1|0 2|0 0|0 0|2 1|0 2|0 0|2 2|0 2|0 2|0 0|0 2|0 0|2 0|2 0|0 0|1 0|1 2|0 0|2 0|0 2|0 0|0 2|0 2|0 0|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 0|1 0|1 0|2 +6 152540230 rs145494541 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17868;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.G21739A:p.A7247T,SYNE1:NM_182961:exon120:c.G21952A:p.A7318T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145494541;CLNALLELEID=268494;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.54;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.893;Polyphen2_HVAR_rankscore=0.671;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.535;MutationAssessor_score_rankscore=0.741;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-0.75;PROVEAN_converted_rankscore=0.372;PROVEAN_pred=N;VEST3_score=0.442;VEST3_rankscore=0.691;MetaSVM_score=-0.772;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.261;MetaLR_rankscore=0.632;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.523;M-CAP_pred=D;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.652;CADD_raw_rankscore=0.496;CADD_phred=23.2;DANN_score=0.989;DANN_rankscore=0.480;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.565;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.458;Eigen-PC-raw=0.376;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.79;GERP++_RS_rankscore=0.917;phyloP100way_vertebrate=5.691;phyloP100way_vertebrate_rankscore=0.677;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.232;phastCons20way_mammalian_rankscore=0.224;SiPhy_29way_logOdds=19.617;SiPhy_29way_logOdds_rankscore=0.956;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.476e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.202e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0001;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.478390;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152540278 rs2147377 A C 100 PASS AC=211;AF=0.995607;AN=214;NS=2504;DP=17816;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.9992;EUR_AF=0.9861;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V;1000g2015aug_all=0.995607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2147377;CLNALLELEID=135865;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.357;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=P;MutationAssessor_score=-2.32;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=0.82;FATHMM_converted_rankscore=0.481;FATHMM_pred=T;PROVEAN_score=2.18;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.03;VEST3_rankscore=0.103;MetaSVM_score=-0.974;MetaSVM_rankscore=0.363;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.224;CADD_raw_rankscore=0.074;CADD_phred=0.977;DANN_score=0.209;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.300;fathmm-MKL_coding_rankscore=0.238;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.085;Eigen-PC-raw=-0.867;GenoCanyon_score=0.531;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=3.99;GERP++_RS_rankscore=0.454;phyloP100way_vertebrate=1.389;phyloP100way_vertebrate_rankscore=0.338;phyloP20way_mammalian=-0.398;phyloP20way_mammalian_rankscore=0.063;phastCons100way_vertebrate=0.942;phastCons100way_vertebrate_rankscore=0.325;phastCons20way_mammalian=0.127;phastCons20way_mammalian_rankscore=0.198;SiPhy_29way_logOdds=5.983;SiPhy_29way_logOdds_rankscore=0.185;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9901;ExAC_nontcga_ALL=0.9925;ExAC_nontcga_AFR=0.9981;ExAC_nontcga_AMR=0.9948;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9891;ExAC_nontcga_NFE=0.9886;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9988;AF=0.9919;AF_popmax=1;AF_male=0.9917;AF_female=0.9922;AF_raw=0.9919;AF_afr=0.9983;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9889;AF_fin=0.9876;AF_asj=0.9862;AF_oth=0.9871;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.982057;Kaviar_AC=151828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.536829;ALLELE_END GT 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152540357 rs17195304 T C 100 PASS AC=25;AF=0.0696885;AN=214;NS=2504;DP=18649;EAS_AF=0.0109;AMR_AF=0.1657;AFR_AF=0.0106;EUR_AF=0.1034;SAS_AF=0.1074;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0696885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17195304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0913;ExAC_nontcga_ALL=0.0915;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.2303;ExAC_nontcga_EAS=0.0086;ExAC_nontcga_FIN=0.0840;ExAC_nontcga_NFE=0.0899;ExAC_nontcga_OTH=0.0925;ExAC_nontcga_SAS=0.0851;AF=0.0638;AF_popmax=0.1993;AF_male=0.0629;AF_female=0.0649;AF_raw=0.0639;AF_afr=0.0179;AF_sas=.;AF_amr=0.1993;AF_eas=0.0148;AF_nfe=0.0810;AF_fin=0.0856;AF_asj=0.0897;AF_oth=0.0755;non_topmed_AF_popmax=0.2037;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.0882848;Kaviar_AC=13649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152542234 rs9397492 G T 100 PASS AC=62;AF=0.389377;AN=214;NS=2504;DP=20413;EAS_AF=0.5486;AMR_AF=0.4135;AFR_AF=0.2231;EUR_AF=0.3191;SAS_AF=0.5051;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.389377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397492;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3296;AF_popmax=0.5863;AF_male=0.3272;AF_female=0.3327;AF_raw=0.3293;AF_afr=0.2510;AF_sas=.;AF_amr=0.4480;AF_eas=0.5863;AF_nfe=0.3161;AF_fin=0.4333;AF_asj=0.3931;AF_oth=0.3425;non_topmed_AF_popmax=0.5845;non_neuro_AF_popmax=0.5863;non_cancer_AF_popmax=.;controls_AF_popmax=0.5791;Kaviar_AF=0.066668;Kaviar_AC=10307;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.176582;ALLELE_END GT 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +6 152542548 rs9383976 A G 100 PASS AC=34;AF=0.337859;AN=214;NS=2504;DP=16635;EAS_AF=0.5367;AMR_AF=0.2493;AFR_AF=0.2995;EUR_AF=0.2078;SAS_AF=0.3814;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.337859;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383976;CLNALLELEID=252168;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2248;ExAC_nontcga_ALL=0.2862;ExAC_nontcga_AFR=0.3246;ExAC_nontcga_AMR=0.2747;ExAC_nontcga_EAS=0.5818;ExAC_nontcga_FIN=0.3416;ExAC_nontcga_NFE=0.2225;ExAC_nontcga_OTH=0.2558;ExAC_nontcga_SAS=0.3218;AF=0.2873;AF_popmax=0.5701;AF_male=0.2856;AF_female=0.2895;AF_raw=0.2878;AF_afr=0.3240;AF_sas=.;AF_amr=0.2423;AF_eas=0.5701;AF_nfe=0.2291;AF_fin=0.3459;AF_asj=0.2793;AF_oth=0.2647;non_topmed_AF_popmax=0.5679;non_neuro_AF_popmax=0.5701;non_cancer_AF_popmax=.;controls_AF_popmax=0.5636;Kaviar_AF=0.271601;Kaviar_AC=41990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.735379;ALLELE_END GT 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +6 152545600 rs147275274 G A 100 PASS AC=5;AF=0.00758786;AN=214;NS=2504;DP=17815;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0112;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147275274;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0241;ExAC_nontcga_ALL=0.0185;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0210;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0180;AF=0.0179;AF_popmax=0.0261;AF_male=0.0167;AF_female=0.0195;AF_raw=0.0179;AF_afr=0.0046;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0261;AF_fin=0.0222;AF_asj=0.0069;AF_oth=0.0267;non_topmed_AF_popmax=0.0258;non_neuro_AF_popmax=0.0264;non_cancer_AF_popmax=.;controls_AF_popmax=0.0267;Kaviar_AF=0.0190101;Kaviar_AC=2939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.009272;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152545865 rs17082358 T C 100 PASS AC=43;AF=0.124002;AN=214;NS=2504;DP=13107;EAS_AF=0.0456;AMR_AF=0.1095;AFR_AF=0.1899;EUR_AF=0.1839;SAS_AF=0.0644;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.124002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1852;AF_popmax=0.1956;AF_male=0.1835;AF_female=0.1872;AF_raw=0.1852;AF_afr=0.1830;AF_sas=.;AF_amr=0.1029;AF_eas=0.0366;AF_nfe=0.1956;AF_fin=0.2267;AF_asj=0.1103;AF_oth=0.2218;non_topmed_AF_popmax=0.1946;non_neuro_AF_popmax=0.1958;non_cancer_AF_popmax=.;controls_AF_popmax=0.2052;Kaviar_AF=0.0030352;Kaviar_AC=79;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 0|1 0|1 0|0 +6 152555057 rs34905593 T A 100 PASS AC=3;AF=0.00978435;AN=214;NS=2504;DP=18611;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon111:c.A20358T:p.S6786S,SYNE1:NM_182961:exon112:c.A20571T:p.S6857S;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34905593;CLNALLELEID=135864;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0259;ExAC_nontcga_ALL=0.0205;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0267;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0250;AF=0.0185;AF_popmax=0.0255;AF_male=0.0178;AF_female=0.0193;AF_raw=0.0185;AF_afr=0.0042;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0255;AF_fin=0.0311;AF_asj=0.0069;AF_oth=0.0268;non_topmed_AF_popmax=0.0261;non_neuro_AF_popmax=0.0259;non_cancer_AF_popmax=.;controls_AF_popmax=0.0279;Kaviar_AF=0.0200256;Kaviar_AC=3096;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.595730;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152555112 rs2296254 C T 100 PASS AC=35;AF=0.208866;AN=214;NS=2504;DP=18942;EAS_AF=0.2401;AMR_AF=0.4049;AFR_AF=0.0514;EUR_AF=0.2227;SAS_AF=0.2362;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.208866;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296254;CLNALLELEID=252170;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2167;ExAC_nontcga_ALL=0.2402;ExAC_nontcga_AFR=0.0778;ExAC_nontcga_AMR=0.4746;ExAC_nontcga_EAS=0.2204;ExAC_nontcga_FIN=0.2629;ExAC_nontcga_NFE=0.2230;ExAC_nontcga_OTH=0.2687;ExAC_nontcga_SAS=0.2197;AF=0.1973;AF_popmax=0.4422;AF_male=0.1909;AF_female=0.2053;AF_raw=0.1974;AF_afr=0.0776;AF_sas=.;AF_amr=0.4422;AF_eas=0.2199;AF_nfe=0.2308;AF_fin=0.2664;AF_asj=0.1966;AF_oth=0.2380;non_topmed_AF_popmax=0.4457;non_neuro_AF_popmax=0.4170;non_cancer_AF_popmax=.;controls_AF_popmax=0.4268;Kaviar_AF=0.229318;Kaviar_AC=35453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.236054;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152555762 rs142325006 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19199;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142325006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0005;AF_popmax=0.0010;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152557178 rs558035577 G C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558035577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0041;AF_male=0.0028;AF_female=0.0021;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0041;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0004204;Kaviar_AC=65;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 152557220 rs36215567 T C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19277;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36215567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0174;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0012;AF=0.0074;AF_popmax=0.0098;AF_male=0.0073;AF_female=0.0076;AF_raw=0.0074;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0181;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.0061189;Kaviar_AC=946;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.952310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152558111 rs36215566 T TA 100 PASS AC=35;AF=0.210264;AN=214;NS=2504;DP=18919;EAS_AF=0.2381;AMR_AF=0.4063;AFR_AF=0.0575;EUR_AF=0.2227;SAS_AF=0.2362;AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36215566;CLNALLELEID=252171;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2170;ExAC_nontcga_ALL=0.2383;ExAC_nontcga_AFR=0.0793;ExAC_nontcga_AMR=0.4755;ExAC_nontcga_EAS=0.2188;ExAC_nontcga_FIN=0.2635;ExAC_nontcga_NFE=0.2218;ExAC_nontcga_OTH=0.2766;ExAC_nontcga_SAS=0.2185;AF=0.1986;AF_popmax=0.4431;AF_male=0.1920;AF_female=0.2068;AF_raw=0.1989;AF_afr=0.0818;AF_sas=.;AF_amr=0.4431;AF_eas=0.2234;AF_nfe=0.2302;AF_fin=0.2667;AF_asj=0.1966;AF_oth=0.2426;non_topmed_AF_popmax=0.4454;non_neuro_AF_popmax=0.4145;non_cancer_AF_popmax=.;controls_AF_popmax=0.4268;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.440658;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152563312 rs144477556 T C 100 PASS AC=4;AF=0.00519169;AN=214;NS=2504;DP=18710;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0102;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144477556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0065;AF_male=0.0055;AF_female=0.0027;AF_raw=0.0043;AF_afr=0.0015;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0065;AF_fin=0.0014;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152565669 rs150304757 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=18179;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150304757;CLNALLELEID=268517;CLNDN=Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.056;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0297;AF=0.0004;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0001;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0038745;Kaviar_AC=599;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.344315;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152570274 rs17215781 A G 100 PASS AC=19;AF=0.0607029;AN=214;NS=2504;DP=19136;EAS_AF=0.0149;AMR_AF=0.1628;AFR_AF=0.0038;EUR_AF=0.0885;SAS_AF=0.0838;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0607029;GWAS=rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462;ORegAnno_REGULATORY_P=rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462;avsnp150=rs17215781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0799;ExAC_nontcga_AFR=0.0125;ExAC_nontcga_AMR=0.2248;ExAC_nontcga_EAS=0.0118;ExAC_nontcga_FIN=0.0761;ExAC_nontcga_NFE=0.0780;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.0589;AF=0.0552;AF_popmax=0.1887;AF_male=0.0540;AF_female=0.0569;AF_raw=0.0554;AF_afr=0.0139;AF_sas=.;AF_amr=0.1887;AF_eas=0.0135;AF_nfe=0.0688;AF_fin=0.0777;AF_asj=0.0897;AF_oth=0.0700;non_topmed_AF_popmax=0.1938;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.077554;Kaviar_AC=11990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.694021;ALLELE_END GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152570415 rs6557210 G A 100 PASS AC=109;AF=0.680711;AN=214;NS=2504;DP=18288;EAS_AF=0.879;AMR_AF=0.634;AFR_AF=0.649;EUR_AF=0.5915;SAS_AF=0.6442;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.680711;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6557210;CLNALLELEID=252172;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6098;ExAC_nontcga_ALL=0.6616;ExAC_nontcga_AFR=0.6561;ExAC_nontcga_AMR=0.6210;ExAC_nontcga_EAS=0.8964;ExAC_nontcga_FIN=0.7816;ExAC_nontcga_NFE=0.6227;ExAC_nontcga_OTH=0.6571;ExAC_nontcga_SAS=0.6603;AF=0.6748;AF_popmax=0.8859;AF_male=0.6689;AF_female=0.6821;AF_raw=0.6741;AF_afr=0.6516;AF_sas=.;AF_amr=0.6291;AF_eas=0.8859;AF_nfe=0.6467;AF_fin=0.7785;AF_asj=0.5966;AF_oth=0.6805;non_topmed_AF_popmax=0.8837;non_neuro_AF_popmax=0.8859;non_cancer_AF_popmax=.;controls_AF_popmax=0.8788;Kaviar_AF=0.639248;Kaviar_AC=98829;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.830414;ALLELE_END GT 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 0|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|1 0|0 0|1 0|0 1|1 0|1 1|1 0|0 1|0 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 0|1 0|1 1|1 +6 152577752 rs17082389 T C 100 PASS AC=9;AF=0.0764776;AN=214;NS=2504;DP=15587;EAS_AF=0.128;AMR_AF=0.049;AFR_AF=0.0598;EUR_AF=0.0487;SAS_AF=0.0941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0764776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082389;CLNALLELEID=252173;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0598;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0614;ExAC_nontcga_AMR=0.0325;ExAC_nontcga_EAS=0.1234;ExAC_nontcga_FIN=0.0201;ExAC_nontcga_NFE=0.0625;ExAC_nontcga_OTH=0.0677;ExAC_nontcga_SAS=0.1273;AF=0.0537;AF_popmax=0.1113;AF_male=0.0577;AF_female=0.0485;AF_raw=0.0538;AF_afr=0.0632;AF_sas=.;AF_amr=0.0461;AF_eas=0.1113;AF_nfe=0.0502;AF_fin=0.0222;AF_asj=0.0931;AF_oth=0.0395;non_topmed_AF_popmax=0.1121;non_neuro_AF_popmax=0.1113;non_cancer_AF_popmax=.;controls_AF_popmax=0.1182;Kaviar_AF=0.067677;Kaviar_AC=10463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152589378 rs534925109 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17258;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534925109;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.270465;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152590434 rs148664724 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18449;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148664724;CLNALLELEID=299415;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0014;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0019;AF_raw=0.0014;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0012354;Kaviar_AC=191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.222423;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152599173 rs147222728 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=21502;EAS_AF=0.0109;AMR_AF=0;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147222728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0111;ExAC_nontcga_FIN=0.0212;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0043;AF=0.0070;AF_popmax=0.0096;AF_male=0.0058;AF_female=0.0085;AF_raw=0.0070;AF_afr=0.0021;AF_sas=.;AF_amr=0.0012;AF_eas=0.0096;AF_nfe=0.0075;AF_fin=0.0181;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001118515|TF_binding_site;ENSTFBS=Name\x3dTEAD4::MAX|ENSPFM0566|ENSM00205113205|8.40808342725;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1711525|N/A|HNF4A|PAZAR,OREG1736173|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152603139 rs9478310 T C 100 PASS AC=11;AF=0.0722843;AN=214;NS=2504;DP=18524;EAS_AF=0.0704;AMR_AF=0.0504;AFR_AF=0.0847;EUR_AF=0.0517;SAS_AF=0.0941;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478310;CLNALLELEID=252174;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0645;ExAC_nontcga_ALL=0.0694;ExAC_nontcga_AFR=0.0896;ExAC_nontcga_AMR=0.0333;ExAC_nontcga_EAS=0.0563;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0655;ExAC_nontcga_OTH=0.0694;ExAC_nontcga_SAS=0.1182;AF=0.0651;AF_popmax=0.0888;AF_male=0.0689;AF_female=0.0603;AF_raw=0.0652;AF_afr=0.0888;AF_sas=.;AF_amr=0.0495;AF_eas=0.0417;AF_nfe=0.0627;AF_fin=0.0331;AF_asj=0.0897;AF_oth=0.0496;non_topmed_AF_popmax=0.0891;non_neuro_AF_popmax=0.0901;non_cancer_AF_popmax=.;controls_AF_popmax=0.0851;Kaviar_AF=0.0665774;Kaviar_AC=10293;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152605242 rs146027815 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152614766 rs200098925 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14500;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon94:c.C17756G:p.P5919R,SYNE1:NM_182961:exon95:c.C17969G:p.P5990R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200098925;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.095;SIFT_converted_rankscore=0.427;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.390;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.078;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.167;LRT_converted_rankscore=0.175;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.246;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_converted_rankscore=0.340;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.193;MetaSVM_score=-1.016;MetaSVM_rankscore=0.249;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_rankscore=0.117;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.300;M-CAP_pred=T;REVEL_score=0.068;REVEL_rankscore=0.203;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.546;CADD_raw_rankscore=0.248;CADD_phred=13.56;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_rankscore=0.460;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.567;Eigen-PC-raw=-0.528;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.15;GERP++_RS_rankscore=0.351;phyloP100way_vertebrate=3.871;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=-0.405;phyloP20way_mammalian_rankscore=0.062;phastCons100way_vertebrate=0.968;phastCons100way_vertebrate_rankscore=0.339;phastCons20way_mammalian=0.049;phastCons20way_mammalian_rankscore=0.163;SiPhy_29way_logOdds=10.702;SiPhy_29way_logOdds_rankscore=0.449;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.122377;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152615042 rs73007780 G T 100 PASS AC=5;AF=0.0473243;AN=214;NS=2504;DP=17612;EAS_AF=0.0724;AMR_AF=0.0634;AFR_AF=0.0083;EUR_AF=0.0596;SAS_AF=0.0501;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0473243;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73007780;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0421;AF_popmax=0.0558;AF_male=0.0398;AF_female=0.0450;AF_raw=0.0421;AF_afr=0.0166;AF_sas=.;AF_amr=0.0472;AF_eas=0.0430;AF_nfe=0.0558;AF_fin=0.0449;AF_asj=0.0345;AF_oth=0.0386;non_topmed_AF_popmax=0.0562;non_neuro_AF_popmax=0.0596;non_cancer_AF_popmax=.;controls_AF_popmax=0.0569;Kaviar_AF=0.0104915;Kaviar_AC=1622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.819075;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152615200 rs12664753 G A 100 PASS AC=41;AF=0.147764;AN=214;NS=2504;DP=16177;EAS_AF=0.1677;AMR_AF=0.1729;AFR_AF=0.0129;EUR_AF=0.1938;SAS_AF=0.2444;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon93:c.C17532T:p.H5844H,SYNE1:NM_182961:exon94:c.C17745T:p.H5915H;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12664753;CLNALLELEID=135861;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1917;ExAC_nontcga_ALL=0.1909;ExAC_nontcga_AFR=0.0362;ExAC_nontcga_AMR=0.2189;ExAC_nontcga_EAS=0.1941;ExAC_nontcga_FIN=0.2311;ExAC_nontcga_NFE=0.1971;ExAC_nontcga_OTH=0.1816;ExAC_nontcga_SAS=0.2195;AF=0.1533;AF_popmax=0.2086;AF_male=0.1501;AF_female=0.1574;AF_raw=0.1536;AF_afr=0.0349;AF_sas=.;AF_amr=0.1998;AF_eas=0.2086;AF_nfe=0.1926;AF_fin=0.2315;AF_asj=0.1552;AF_oth=0.1786;non_topmed_AF_popmax=0.2066;non_neuro_AF_popmax=0.2086;non_cancer_AF_popmax=.;controls_AF_popmax=0.2144;Kaviar_AF=0.184098;Kaviar_AC=28462;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.860939;ALLELE_END GT 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 +6 152621818 rs144418713 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19666;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon92:c.C17427T:p.R5809R,SYNE1:NM_182961:exon93:c.C17640T:p.R5880R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144418713;CLNALLELEID=271054;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.576573;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152621955 rs148405405 A G 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=20385;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148405405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0029;AF=0.0075;AF_popmax=0.0120;AF_male=0.0071;AF_female=0.0080;AF_raw=0.0075;AF_afr=0.0019;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0120;AF_fin=0.0043;AF_asj=0.0103;AF_oth=0.0101;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0072962;Kaviar_AC=1128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.582865;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152623056 rs140452603 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon91:c.A17276T:p.D5759V,SYNE1:NM_182961:exon92:c.A17489T:p.D5830V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140452603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.606;Polyphen2_HVAR_rankscore=0.547;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.469;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_converted_rankscore=0.936;PROVEAN_pred=D;VEST3_score=0.456;VEST3_rankscore=0.557;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.309;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.592;M-CAP_pred=D;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.841;CADD_raw_rankscore=0.800;CADD_phred=27.3;DANN_score=0.995;DANN_rankscore=0.652;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.691;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.445;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.267;integrated_fitCons_score_rankscore=0.040;integrated_confidence_value=1;GERP++_RS=5.61;GERP++_RS_rankscore=0.853;phyloP100way_vertebrate=7.581;phyloP100way_vertebrate_rankscore=0.817;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=16.101;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.46e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1224039|N/A|SMARCA4|PAZAR,OREG1172553|N/A|TFAP2C|PAZAR,OREG1798829|N/A|RBL2|PAZAR,OREG1578113|N/A|FOXA1|PAZAR,OREG1780029|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.812403;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152629586 rs9371581 G A 100 PASS AC=116;AF=0.457468;AN=214;NS=2504;DP=18695;EAS_AF=0.6488;AMR_AF=0.3963;AFR_AF=0.3238;EUR_AF=0.5517;SAS_AF=0.3875;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.457468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371581;CLNALLELEID=252176;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5247;ExAC_nontcga_ALL=0.4975;ExAC_nontcga_AFR=0.3417;ExAC_nontcga_AMR=0.4167;ExAC_nontcga_EAS=0.6421;ExAC_nontcga_FIN=0.6895;ExAC_nontcga_NFE=0.5308;ExAC_nontcga_OTH=0.5014;ExAC_nontcga_SAS=0.3816;AF=0.5109;AF_popmax=0.6527;AF_male=0.5013;AF_female=0.5230;AF_raw=0.5106;AF_afr=0.3432;AF_sas=.;AF_amr=0.4371;AF_eas=0.6527;AF_nfe=0.5540;AF_fin=0.6863;AF_asj=0.5070;AF_oth=0.5371;non_topmed_AF_popmax=0.6552;non_neuro_AF_popmax=0.6527;non_cancer_AF_popmax=.;controls_AF_popmax=0.6473;Kaviar_AF=0.497005;Kaviar_AC=76838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.369334;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.457468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371581;CLNALLELEID=252176;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5247;ExAC_nontcga_ALL=0.4975;ExAC_nontcga_AFR=0.3417;ExAC_nontcga_AMR=0.4167;ExAC_nontcga_EAS=0.6421;ExAC_nontcga_FIN=0.6895;ExAC_nontcga_NFE=0.5308;ExAC_nontcga_OTH=0.5014;ExAC_nontcga_SAS=0.3816;AF=0.5109;AF_popmax=0.6527;AF_male=0.5013;AF_female=0.5230;AF_raw=0.5106;AF_afr=0.3432;AF_sas=.;AF_amr=0.4371;AF_eas=0.6527;AF_nfe=0.5540;AF_fin=0.6863;AF_asj=0.5070;AF_oth=0.5371;non_topmed_AF_popmax=0.6552;non_neuro_AF_popmax=0.6527;non_cancer_AF_popmax=.;controls_AF_popmax=0.6473;Kaviar_AF=0.497005;Kaviar_AC=76838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.369334;ALLELE_END GT 0|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 0|1 1|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 0|1 0|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 0|0 0|1 0|1 0|1 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|1 0|1 +6 152629617 rs9383985 C T 100 PASS AC=73;AF=0.304313;AN=214;NS=2504;DP=18606;EAS_AF=0.5962;AMR_AF=0.2608;AFR_AF=0.0522;EUR_AF=0.326;SAS_AF=0.3528;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383985;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3235;ExAC_nontcga_ALL=0.3250;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.3259;ExAC_nontcga_EAS=0.5838;ExAC_nontcga_FIN=0.3552;ExAC_nontcga_NFE=0.3230;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.3276;AF=0.2806;AF_popmax=0.6062;AF_male=0.2773;AF_female=0.2847;AF_raw=0.2808;AF_afr=0.0875;AF_sas=.;AF_amr=0.3040;AF_eas=0.6062;AF_nfe=0.3331;AF_fin=0.3644;AF_asj=0.3986;AF_oth=0.3050;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6015;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166992;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383985;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3235;ExAC_nontcga_ALL=0.3250;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.3259;ExAC_nontcga_EAS=0.5838;ExAC_nontcga_FIN=0.3552;ExAC_nontcga_NFE=0.3230;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.3276;AF=0.2806;AF_popmax=0.6062;AF_male=0.2773;AF_female=0.2847;AF_raw=0.2808;AF_afr=0.0875;AF_sas=.;AF_amr=0.3040;AF_eas=0.6062;AF_nfe=0.3331;AF_fin=0.3644;AF_asj=0.3986;AF_oth=0.3050;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6015;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166992;ALLELE_END GT 0|1 1|1 1|0 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|1 0|0 1|1 1|0 1|0 0|1 1|0 1|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 +6 152629631 rs76160752 C T 100 PASS AC=2;AF=0.038139;AN=214;NS=2504;DP=18860;EAS_AF=0.0427;AMR_AF=0.0389;AFR_AF=0.0552;EUR_AF=0.0099;SAS_AF=0.0389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;1000g2015aug_all=0.038139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76160752;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.322;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.437;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.107;MetaSVM_score=-1.094;MetaSVM_rankscore=0.049;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.151;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.154;CADD_raw_rankscore=0.849;CADD_phred=28.5;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.234;Eigen-PC-raw=-0.100;GenoCanyon_score=0.950;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.290;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0585;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0394;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0371;AF=0.0236;AF_popmax=0.0577;AF_male=0.0252;AF_female=0.0217;AF_raw=0.0237;AF_afr=0.0577;AF_sas=.;AF_amr=0.0189;AF_eas=0.0443;AF_nfe=0.0077;AF_fin=0.0040;AF_asj=0.0241;AF_oth=0.0111;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0662;non_cancer_AF_popmax=.;controls_AF_popmax=0.0603;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.286541;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;1000g2015aug_all=0.038139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76160752;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.322;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.437;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.107;MetaSVM_score=-1.094;MetaSVM_rankscore=0.049;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.151;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.154;CADD_raw_rankscore=0.849;CADD_phred=28.5;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.234;Eigen-PC-raw=-0.100;GenoCanyon_score=0.950;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.290;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0585;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0394;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0371;AF=0.0236;AF_popmax=0.0577;AF_male=0.0252;AF_female=0.0217;AF_raw=0.0237;AF_afr=0.0577;AF_sas=.;AF_amr=0.0189;AF_eas=0.0443;AF_nfe=0.0077;AF_fin=0.0040;AF_asj=0.0241;AF_oth=0.0111;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0662;non_cancer_AF_popmax=.;controls_AF_popmax=0.0603;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.286541;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152629772 rs544090383;rs535229755;rs535299168 GAA GAAA,GA,G 100 PASS 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ax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535299168;CLNALLELEID=196365;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0217;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0262;ExAC_nontcga_FIN=0.0138;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0187;AF=0.0091;AF_popmax=0.0131;AF_male=0.0090;AF_female=0.0092;AF_raw=0.0083;AF_afr=0.0036;AF_sas=.;AF_amr=0.0039;AF_eas=0.0027;AF_nfe=0.0131;AF_fin=0.0099;AF_asj=0.0079;AF_oth=0.0104;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0114;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END GT 0|2 2|2 2|0 0|0 0|0 0|2 2|0 2|2 0|2 0|0 0|2 2|0 0|2 3|2 0|2 2|2 2|0 2|2 2|0 1|0 0|0 2|2 2|0 2|2 2|0 2|0 0|2 2|2 0|0 2|0 2|0 0|0 0|2 0|2 0|0 2|2 2|0 2|0 0|2 2|0 2|0 0|0 2|0 0|2 0|0 2|0 2|0 2|0 0|2 2|0 0|2 0|2 0|2 0|0 0|2 2|0 0|1 1|0 0|2 0|0 0|2 0|2 0|2 2|0 2|0 0|2 0|1 2|0 2|2 2|0 2|2 0|2 1|0 0|0 0|2 2|0 2|0 2|2 0|2 2|0 0|1 0|2 2|0 2|2 0|0 2|0 0|0 2|0 2|0 2|0 2|2 0|2 0|2 2|0 2|0 0|2 0|0 0|2 2|0 0|2 2|2 0|2 0|1 0|2 2|0 2|0 2|2 +6 152629815 rs4112833 C T 100 PASS AC=178;AF=0.884784;AN=214;NS=2504;DP=16370;EAS_AF=0.9841;AMR_AF=0.8934;AFR_AF=0.9372;EUR_AF=0.8091;SAS_AF=0.7832;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.884784;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4112833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7880;ExAC_nontcga_ALL=0.8416;ExAC_nontcga_AFR=0.9187;ExAC_nontcga_AMR=0.9199;ExAC_nontcga_EAS=0.9894;ExAC_nontcga_FIN=0.8963;ExAC_nontcga_NFE=0.8013;ExAC_nontcga_OTH=0.8215;ExAC_nontcga_SAS=0.7883;AF=0.8697;AF_popmax=0.9929;AF_male=0.8697;AF_female=0.8695;AF_raw=0.8683;AF_afr=0.9234;AF_sas=.;AF_amr=0.9061;AF_eas=0.9929;AF_nfe=0.8188;AF_fin=0.9104;AF_asj=0.8264;AF_oth=0.8327;non_topmed_AF_popmax=0.9934;non_neuro_AF_popmax=0.9929;non_cancer_AF_popmax=.;controls_AF_popmax=0.9934;Kaviar_AF=0.816995;Kaviar_AC=126309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.884784;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4112833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7880;ExAC_nontcga_ALL=0.8416;ExAC_nontcga_AFR=0.9187;ExAC_nontcga_AMR=0.9199;ExAC_nontcga_EAS=0.9894;ExAC_nontcga_FIN=0.8963;ExAC_nontcga_NFE=0.8013;ExAC_nontcga_OTH=0.8215;ExAC_nontcga_SAS=0.7883;AF=0.8697;AF_popmax=0.9929;AF_male=0.8697;AF_female=0.8695;AF_raw=0.8683;AF_afr=0.9234;AF_sas=.;AF_amr=0.9061;AF_eas=0.9929;AF_nfe=0.8188;AF_fin=0.9104;AF_asj=0.8264;AF_oth=0.8327;non_topmed_AF_popmax=0.9934;non_neuro_AF_popmax=0.9929;non_cancer_AF_popmax=.;controls_AF_popmax=0.9934;Kaviar_AF=0.816995;Kaviar_AC=126309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152630946 rs12662994 C T 100 PASS AC=25;AF=0.117612;AN=214;NS=2504;DP=14419;EAS_AF=0.0863;AMR_AF=0.2896;AFR_AF=0.0371;EUR_AF=0.1034;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12662994;CLNALLELEID=252177;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0981;ExAC_nontcga_ALL=0.1271;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.3444;ExAC_nontcga_EAS=0.0921;ExAC_nontcga_FIN=0.0843;ExAC_nontcga_NFE=0.1012;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.1457;AF=0.0875;AF_popmax=0.2974;AF_male=0.0893;AF_female=0.0852;AF_raw=0.0876;AF_afr=0.0502;AF_sas=.;AF_amr=0.2974;AF_eas=0.1006;AF_nfe=0.0941;AF_fin=0.0849;AF_asj=0.1414;AF_oth=0.1041;non_topmed_AF_popmax=0.3015;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.119481;Kaviar_AC=18472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.219624;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12662994;CLNALLELEID=252177;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0981;ExAC_nontcga_ALL=0.1271;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.3444;ExAC_nontcga_EAS=0.0921;ExAC_nontcga_FIN=0.0843;ExAC_nontcga_NFE=0.1012;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.1457;AF=0.0875;AF_popmax=0.2974;AF_male=0.0893;AF_female=0.0852;AF_raw=0.0876;AF_afr=0.0502;AF_sas=.;AF_amr=0.2974;AF_eas=0.1006;AF_nfe=0.0941;AF_fin=0.0849;AF_asj=0.1414;AF_oth=0.1041;non_topmed_AF_popmax=0.3015;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.119481;Kaviar_AC=18472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.219624;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 +6 152631802 rs545568394 C CT 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=18981;EAS_AF=0.001;AMR_AF=0.0115;AFR_AF=0.0038;EUR_AF=0.0149;SAS_AF=0.0051;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545568394;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0168;ExAC_nontcga_ALL=0.0189;ExAC_nontcga_AFR=0.0110;ExAC_nontcga_AMR=0.0153;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0237;ExAC_nontcga_OTH=0.0375;ExAC_nontcga_SAS=0.0166;AF=0.0071;AF_popmax=0.0101;AF_male=0.0067;AF_female=0.0077;AF_raw=0.0075;AF_afr=0.0026;AF_sas=.;AF_amr=0.0052;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0104;AF_asj=0;AF_oth=0.0059;non_topmed_AF_popmax=0.0097;non_neuro_AF_popmax=0.0100;non_cancer_AF_popmax=.;controls_AF_popmax=0.0097;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152632033 rs1538 G A 100 PASS AC=2;AF=0.0443291;AN=214;NS=2504;DP=19156;EAS_AF=0.1339;AMR_AF=0.0303;AFR_AF=0.0098;EUR_AF=0.0209;SAS_AF=0.0327;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1538;CLNALLELEID=252178;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0411;ExAC_nontcga_AFR=0.0123;ExAC_nontcga_AMR=0.0615;ExAC_nontcga_EAS=0.1583;ExAC_nontcga_FIN=0.0479;ExAC_nontcga_NFE=0.0290;ExAC_nontcga_OTH=0.0419;ExAC_nontcga_SAS=0.0225;AF=0.0326;AF_popmax=0.1367;AF_male=0.0330;AF_female=0.0321;AF_raw=0.0326;AF_afr=0.0118;AF_sas=.;AF_amr=0.0354;AF_eas=0.1367;AF_nfe=0.0317;AF_fin=0.0423;AF_asj=0;AF_oth=0.0386;non_topmed_AF_popmax=0.1355;non_neuro_AF_popmax=0.1367;non_cancer_AF_popmax=.;controls_AF_popmax=0.1379;Kaviar_AF=0.034508;Kaviar_AC=5335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152638192 rs117407502 C T 100 PASS AC=4;AF=0.00539137;AN=214;NS=2504;DP=16618;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117407502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0087;AF_popmax=0.0121;AF_male=0.0088;AF_female=0.0086;AF_raw=0.0087;AF_afr=0.0030;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0095;AF_asj=0.0241;AF_oth=0.0120;non_topmed_AF_popmax=0.0108;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152639184 rs17082448 C G 100 PASS AC=8;AF=0.0864617;AN=214;NS=2504;DP=18274;EAS_AF=0.0278;AMR_AF=0.0375;AFR_AF=0.2201;EUR_AF=0.0348;SAS_AF=0.0542;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0864617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082448;CLNALLELEID=252179;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0499;ExAC_nontcga_AFR=0.1999;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0301;ExAC_nontcga_FIN=0.0189;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0480;AF=0.0781;AF_popmax=0.1953;AF_male=0.0831;AF_female=0.0718;AF_raw=0.0780;AF_afr=0.1953;AF_sas=.;AF_amr=0.0342;AF_eas=0.0301;AF_nfe=0.0373;AF_fin=0.0147;AF_asj=0.0448;AF_oth=0.0331;non_topmed_AF_popmax=0.1964;non_neuro_AF_popmax=0.1910;non_cancer_AF_popmax=.;controls_AF_popmax=0.1889;Kaviar_AF=0.0496953;Kaviar_AC=7683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.765294;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152639350 rs200862904 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17303;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon85:c.G16225A:p.D5409N,SYNE1:NM_182961:exon86:c.G16438A:p.D5480N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200862904;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.023;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.962;Polyphen2_HVAR_rankscore=0.690;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.497;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_score_rankscore=0.754;MutationAssessor_pred=M;FATHMM_score=1.44;FATHMM_converted_rankscore=0.327;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.715;PROVEAN_pred=D;VEST3_score=0.051;VEST3_rankscore=0.032;MetaSVM_score=-0.993;MetaSVM_rankscore=0.317;MetaSVM_pred=T;MetaLR_score=0.109;MetaLR_rankscore=0.393;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.469;M-CAP_pred=T;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.336;CADD_raw_rankscore=0.875;CADD_phred=29.3;DANN_score=0.999;DANN_rankscore=0.944;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.367;Eigen-PC-raw=0.325;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.451;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=3.88;GERP++_RS_rankscore=0.438;phyloP100way_vertebrate=4.333;phyloP100way_vertebrate_rankscore=0.588;phyloP20way_mammalian=0.049;phyloP20way_mammalian_rankscore=0.161;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=11.601;SiPhy_29way_logOdds_rankscore=0.501;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.530807;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640091 rs144376043 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17630;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.G16083A:p.R5361R,SYNE1:NM_182961:exon85:c.G16296A:p.R5432R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144376043;CLNALLELEID=269872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=9.554e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.216194;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640110 rs2306914 G A 100 PASS AC=5;AF=0.0463259;AN=214;NS=2504;DP=17552;EAS_AF=0.1419;AMR_AF=0.0331;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.C16064T:p.T5355M,SYNE1:NM_182961:exon85:c.C16277T:p.T5426M;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306914;CLNALLELEID=135857;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.188;SIFT_converted_rankscore=0.214;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=P;MutationAssessor_score=-1.5;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_converted_rankscore=0.485;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_converted_rankscore=0.045;PROVEAN_pred=N;VEST3_score=0.023;VEST3_rankscore=0.016;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.071;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.053;REVEL_rankscore=0.154;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.539;CADD_raw_rankscore=0.366;CADD_phred=19.72;DANN_score=0.613;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.139;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.794;Eigen-PC-raw=-0.587;GenoCanyon_score=0.134;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.286;GERP++_RS_rankscore=0.149;phyloP100way_vertebrate=0.908;phyloP100way_vertebrate_rankscore=0.280;phyloP20way_mammalian=0.148;phyloP20way_mammalian_rankscore=0.236;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.452;SiPhy_29way_logOdds_rankscore=0.377;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0272;ExAC_nontcga_ALL=0.0402;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0577;ExAC_nontcga_EAS=0.1639;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0290;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0264;AF=0.0330;AF_popmax=0.1598;AF_male=0.0333;AF_female=0.0327;AF_raw=0.0330;AF_afr=0.0063;AF_sas=.;AF_amr=0.0377;AF_eas=0.1598;AF_nfe=0.0338;AF_fin=0.0397;AF_asj=0.0069;AF_oth=0.0358;non_topmed_AF_popmax=0.1612;non_neuro_AF_popmax=0.1598;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0382789;Kaviar_AC=5918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569769;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640160 rs201078255 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18437;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201078255;CLNALLELEID=299420;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.911e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.21e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.811e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206946;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152642331 rs201136769 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201136769;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.953323;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152642795 rs540007312 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16651;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540007312;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152643070 rs117623694 C T 100 PASS AC=9;AF=0.0107827;AN=214;NS=2504;DP=16666;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.003;EUR_AF=0.0318;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117623694;CLNALLELEID=252182;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0409;ExAC_nontcga_ALL=0.0228;ExAC_nontcga_AFR=0.0071;ExAC_nontcga_AMR=0.0159;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0192;ExAC_nontcga_NFE=0.0360;ExAC_nontcga_OTH=0.0247;ExAC_nontcga_SAS=0.0046;AF=0.0232;AF_popmax=0.0348;AF_male=0.0235;AF_female=0.0227;AF_raw=0.0232;AF_afr=0.0079;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0201;AF_asj=0.0138;AF_oth=0.0249;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0351;non_cancer_AF_popmax=.;controls_AF_popmax=0.0277;Kaviar_AF=0.0249091;Kaviar_AC=3851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809932|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152646279 rs9383987 G C 100 PASS AC=7;AF=0.0623003;AN=214;NS=2504;DP=15962;EAS_AF=0.1419;AMR_AF=0.0303;AFR_AF=0.0598;EUR_AF=0.0308;SAS_AF=0.0389;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.C15384G:p.A5128A,SYNE1:NM_182961:exon81:c.C15597G:p.A5199A;1000g2015aug_all=0.0623003;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383987;CLNALLELEID=135856;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0450;ExAC_nontcga_AFR=0.0475;ExAC_nontcga_AMR=0.0583;ExAC_nontcga_EAS=0.1595;ExAC_nontcga_FIN=0.0346;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0347;AF=0.0445;AF_popmax=0.1536;AF_male=0.0457;AF_female=0.0430;AF_raw=0.0446;AF_afr=0.0511;AF_sas=.;AF_amr=0.0377;AF_eas=0.1536;AF_nfe=0.0337;AF_fin=0.0340;AF_asj=0.0069;AF_oth=0.0389;non_topmed_AF_popmax=0.1555;non_neuro_AF_popmax=0.1536;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.042548;Kaviar_AC=6578;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.365489;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152647388 rs199866067 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20351;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199866067;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.828e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152647681 rs2306916 A T 100 PASS AC=156;AF=0.814696;AN=214;NS=2504;DP=18523;EAS_AF=0.8492;AMR_AF=0.8444;AFR_AF=0.9546;EUR_AF=0.7475;SAS_AF=0.638;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M;1000g2015aug_all=0.814696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306916;CLNALLELEID=135855;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.607;SIFT_converted_rankscore=0.055;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_rankscore=0.158;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.306;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.165;MutationAssessor_score_rankscore=0.043;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_converted_rankscore=0.367;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.051;VEST3_rankscore=0.062;MetaSVM_score=-0.977;MetaSVM_rankscore=0.358;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.045;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.027;REVEL_rankscore=0.062;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.978;CADD_raw_rankscore=0.299;CADD_phred=16.07;DANN_score=0.785;DANN_rankscore=0.119;fathmm-MKL_coding_score=0.734;fathmm-MKL_coding_rankscore=0.356;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.646;Eigen-PC-raw=-0.403;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=2.928;phyloP100way_vertebrate_rankscore=0.484;phyloP20way_mammalian=0.088;phyloP20way_mammalian_rankscore=0.194;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=6.207;SiPhy_29way_logOdds_rankscore=0.197;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7494;ExAC_nontcga_ALL=0.7801;ExAC_nontcga_AFR=0.9322;ExAC_nontcga_AMR=0.8766;ExAC_nontcga_EAS=0.8386;ExAC_nontcga_FIN=0.8531;ExAC_nontcga_NFE=0.7583;ExAC_nontcga_OTH=0.7695;ExAC_nontcga_SAS=0.6449;AF=0.8322;AF_popmax=0.9347;AF_male=0.8336;AF_female=0.8306;AF_raw=0.8318;AF_afr=0.9347;AF_sas=.;AF_amr=0.8582;AF_eas=0.8363;AF_nfe=0.7755;AF_fin=0.8488;AF_asj=0.6759;AF_oth=0.7781;non_topmed_AF_popmax=0.9348;non_neuro_AF_popmax=0.9318;non_cancer_AF_popmax=.;controls_AF_popmax=0.9308;Kaviar_AF=0.771588;Kaviar_AC=119289;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.445550;ALLELE_END GT 1|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152650812 rs117418600 G A 100 PASS AC=6;AF=0.0115815;AN=214;NS=2504;DP=19713;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117418600;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0211;AF_popmax=0.0320;AF_male=0.0192;AF_female=0.0234;AF_raw=0.0211;AF_afr=0.0045;AF_sas=.;AF_amr=0.0083;AF_eas=0.0013;AF_nfe=0.0320;AF_fin=0.0276;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0351;non_neuro_AF_popmax=0.0320;non_cancer_AF_popmax=.;controls_AF_popmax=0.0399;Kaviar_AF=0.0041979;Kaviar_AC=649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.279766;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152650903 rs35085679 G A 100 PASS AC=7;AF=0.033746;AN=214;NS=2504;DP=18385;EAS_AF=0.0198;AMR_AF=0.0245;AFR_AF=0.0333;EUR_AF=0.0368;SAS_AF=0.0521;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L;1000g2015aug_all=0.033746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35085679;CLNALLELEID=135854;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0285;ExAC_nontcga_AMR=0.0126;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0186;ExAC_nontcga_NFE=0.0384;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0473;AF=0.0306;AF_popmax=0.0375;AF_male=0.0328;AF_female=0.0280;AF_raw=0.0307;AF_afr=0.0272;AF_sas=.;AF_amr=0.0189;AF_eas=0.0263;AF_nfe=0.0375;AF_fin=0.0135;AF_asj=0.0517;AF_oth=0.0248;non_topmed_AF_popmax=0.0348;non_neuro_AF_popmax=0.0378;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.0345468;Kaviar_AC=5341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609000;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152651521 rs150902491 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21849;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G14086A:p.E4696K,SYNE1:NM_182961:exon78:c.G14299A:p.E4767K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150902491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.068;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.939;Polyphen2_HVAR_rankscore=0.657;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=0.65;FATHMM_converted_rankscore=0.527;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.634;VEST3_rankscore=0.652;MetaSVM_score=-0.974;MetaSVM_rankscore=0.364;MetaSVM_pred=T;MetaLR_score=0.168;MetaLR_rankscore=0.509;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.453;M-CAP_pred=T;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.083;CADD_raw_rankscore=0.548;CADD_phred=23.7;DANN_score=0.993;DANN_rankscore=0.584;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.778;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=6.080;phyloP100way_vertebrate_rankscore=0.707;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.945;phastCons20way_mammalian_rankscore=0.419;SiPhy_29way_logOdds=20.134;SiPhy_29way_logOdds_rankscore=0.980;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.423402;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152651759 rs3734365 C G 100 PASS AC=18;AF=0.165136;AN=214;NS=2504;DP=20405;EAS_AF=0.4841;AMR_AF=0.0677;AFR_AF=0.0469;EUR_AF=0.0736;SAS_AF=0.1595;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G13848C:p.L4616L,SYNE1:NM_182961:exon78:c.G14061C:p.L4687L;1000g2015aug_all=0.165136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734365;CLNALLELEID=135852;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0621;ExAC_nontcga_ALL=0.0980;ExAC_nontcga_AFR=0.0445;ExAC_nontcga_AMR=0.0614;ExAC_nontcga_EAS=0.4291;ExAC_nontcga_FIN=0.0735;ExAC_nontcga_NFE=0.0589;ExAC_nontcga_OTH=0.0954;ExAC_nontcga_SAS=0.1345;AF=0.0768;AF_popmax=0.4471;AF_male=0.0774;AF_female=0.0760;AF_raw=0.0770;AF_afr=0.0387;AF_sas=.;AF_amr=0.0613;AF_eas=0.4471;AF_nfe=0.0644;AF_fin=0.0717;AF_asj=0.0483;AF_oth=0.0663;non_topmed_AF_popmax=0.4498;non_neuro_AF_popmax=0.4471;non_cancer_AF_popmax=.;controls_AF_popmax=0.4548;Kaviar_AF=0.0929289;Kaviar_AC=14367;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.093406;ALLELE_END GT 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152652034 rs6911096 A T 100 PASS AC=156;AF=0.803315;AN=214;NS=2504;DP=22567;EAS_AF=0.8591;AMR_AF=0.8386;AFR_AF=0.907;EUR_AF=0.7475;SAS_AF=0.638;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T;1000g2015aug_all=0.803315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6911096;CLNALLELEID=135851;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.568;SIFT_converted_rankscore=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.130;LRT_converted_rankscore=0.028;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.025;MutationAssessor_score_rankscore=0.080;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.105;PROVEAN_pred=N;VEST3_score=0.005;VEST3_rankscore=0.001;MetaSVM_score=-1.024;MetaSVM_rankscore=0.224;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-5.477;CADD_raw_rankscore=0.000;CADD_phred=0.001;DANN_score=0.200;DANN_rankscore=0.007;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.793;Eigen-PC-raw=-2.870;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-11.9;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=-2.486;phyloP100way_vertebrate_rankscore=0.010;phyloP20way_mammalian=-3.450;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=2.429;SiPhy_29way_logOdds_rankscore=0.042;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7490;ExAC_nontcga_ALL=0.7763;ExAC_nontcga_AFR=0.8864;ExAC_nontcga_AMR=0.8740;ExAC_nontcga_EAS=0.8466;ExAC_nontcga_FIN=0.8531;ExAC_nontcga_NFE=0.7580;ExAC_nontcga_OTH=0.7680;ExAC_nontcga_SAS=0.6454;AF=0.8212;AF_popmax=0.8953;AF_male=0.8214;AF_female=0.8208;AF_raw=0.8210;AF_afr=0.8953;AF_sas=.;AF_amr=0.8538;AF_eas=0.8468;AF_nfe=0.7747;AF_fin=0.8486;AF_asj=0.6759;AF_oth=0.7757;non_topmed_AF_popmax=0.8954;non_neuro_AF_popmax=0.8912;non_cancer_AF_popmax=.;controls_AF_popmax=0.8879;Kaviar_AF=0.768211;Kaviar_AC=118767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.062178;ALLELE_END GT 1|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152652599 rs10499268 G A 100 PASS AC=7;AF=0.0335463;AN=214;NS=2504;DP=21161;EAS_AF=0.0198;AMR_AF=0.0245;AFR_AF=0.0333;EUR_AF=0.0368;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D;1000g2015aug_all=0.0335463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10499268;CLNALLELEID=135850;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0285;ExAC_nontcga_AMR=0.0128;ExAC_nontcga_EAS=0.0232;ExAC_nontcga_FIN=0.0186;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0468;AF=0.0308;AF_popmax=0.0378;AF_male=0.0328;AF_female=0.0283;AF_raw=0.0308;AF_afr=0.0273;AF_sas=.;AF_amr=0.0189;AF_eas=0.025;AF_nfe=0.0378;AF_fin=0.0138;AF_asj=0.0552;AF_oth=0.0248;non_topmed_AF_popmax=0.0351;non_neuro_AF_popmax=0.0381;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.035006;Kaviar_AC=5412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.671387;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152653037 rs9478314 T C 100 PASS AC=93;AF=0.413139;AN=214;NS=2504;DP=23075;EAS_AF=0.1319;AMR_AF=0.6239;AFR_AF=0.5378;EUR_AF=0.4443;SAS_AF=0.3528;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.413139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478314;CLNALLELEID=252183;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.4607;ExAC_nontcga_ALL=0.4610;ExAC_nontcga_AFR=0.5368;ExAC_nontcga_AMR=0.6815;ExAC_nontcga_EAS=0.1646;ExAC_nontcga_FIN=0.4514;ExAC_nontcga_NFE=0.4703;ExAC_nontcga_OTH=0.4536;ExAC_nontcga_SAS=0.3860;AF=0.4800;AF_popmax=0.6533;AF_male=0.4754;AF_female=0.4857;AF_raw=0.4799;AF_afr=0.5495;AF_sas=.;AF_amr=0.6533;AF_eas=0.1292;AF_nfe=0.4715;AF_fin=0.4669;AF_asj=0.5172;AF_oth=0.4438;non_topmed_AF_popmax=0.6605;non_neuro_AF_popmax=0.6390;non_cancer_AF_popmax=.;controls_AF_popmax=0.6179;Kaviar_AF=0.454457;Kaviar_AC=70260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.542474;ALLELE_END GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 0|1 0|0 1|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 1|1 1|0 1|0 1|1 0|1 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 +6 152658062 rs117501809 C G 100 PASS AC=2;AF=0.0123802;AN=214;NS=2504;DP=18830;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12229C:p.D4077H,SYNE1:NM_182961:exon76:c.G12442C:p.D4148H;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117501809;CLNALLELEID=135848;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_converted_rankscore=0.571;FATHMM_pred=T;PROVEAN_score=-2.8;PROVEAN_converted_rankscore=0.592;PROVEAN_pred=D;VEST3_score=0.348;VEST3_rankscore=0.409;MetaSVM_score=-0.509;MetaSVM_rankscore=0.684;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_rankscore=0.662;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.317;REVEL_rankscore=0.643;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.980;DANN_rankscore=0.369;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.986;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.818;Eigen-PC-raw=0.797;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.47;GERP++_RS_rankscore=0.803;phyloP100way_vertebrate=7.902;phyloP100way_vertebrate_rankscore=0.860;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=19.325;SiPhy_29way_logOdds_rankscore=0.942;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0326;ExAC_nontcga_ALL=0.0272;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0315;ExAC_nontcga_NFE=0.0369;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0296;AF=0.0217;AF_popmax=0.0329;AF_male=0.0218;AF_female=0.0216;AF_raw=0.0217;AF_afr=0.0048;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0329;AF_fin=0.0253;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0317;non_neuro_AF_popmax=0.0338;non_cancer_AF_popmax=.;controls_AF_popmax=0.0315;Kaviar_AF=0.0265068;Kaviar_AC=4098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.240878;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658141 rs28385621 C A 100 PASS AC=13;AF=0.0876597;AN=214;NS=2504;DP=17211;EAS_AF=0.1171;AMR_AF=0.062;AFR_AF=0.0749;EUR_AF=0.0696;SAS_AF=0.1115;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12150T:p.K4050N,SYNE1:NM_182961:exon76:c.G12363T:p.K4121N;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28385621;CLNALLELEID=135847;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.085;VEST3_rankscore=0.080;MetaSVM_score=-1.091;MetaSVM_rankscore=0.054;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.121;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.991;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.931;DANN_rankscore=0.222;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.805;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.389;Eigen-PC-raw=-0.256;GenoCanyon_score=0.374;GenoCanyon_score_rankscore=0.199;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.69;GERP++_RS_rankscore=0.413;phyloP100way_vertebrate=1.144;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=11.386;SiPhy_29way_logOdds_rankscore=0.488;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0764;ExAC_nontcga_AFR=0.0589;ExAC_nontcga_AMR=0.0593;ExAC_nontcga_EAS=0.1138;ExAC_nontcga_FIN=0.0536;ExAC_nontcga_NFE=0.0737;ExAC_nontcga_OTH=0.0669;ExAC_nontcga_SAS=0.0987;AF=0.0635;AF_popmax=0.1085;AF_male=0.0652;AF_female=0.0614;AF_raw=0.0635;AF_afr=0.0544;AF_sas=.;AF_amr=0.0613;AF_eas=0.1085;AF_nfe=0.0687;AF_fin=0.0452;AF_asj=0.0759;AF_oth=0.0562;non_topmed_AF_popmax=0.1066;non_neuro_AF_popmax=0.1085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0993;Kaviar_AF=0.0677546;Kaviar_AC=10475;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051304;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658142 rs9479297 T C 100 PASS AC=154;AF=0.793131;AN=214;NS=2504;DP=17239;EAS_AF=0.8631;AMR_AF=0.7147;AFR_AF=0.9569;EUR_AF=0.7416;SAS_AF=0.6084;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R;1000g2015aug_all=0.793131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479297;CLNALLELEID=135846;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.81;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=1.08;PROVEAN_converted_rankscore=0.014;PROVEAN_pred=N;VEST3_score=0.025;VEST3_rankscore=0.011;MetaSVM_score=-0.969;MetaSVM_rankscore=0.375;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.034;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.371;CADD_raw_rankscore=0.130;CADD_phred=6.360;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.835;Eigen-PC-raw=-0.578;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.48;GERP++_RS_rankscore=0.538;phyloP100way_vertebrate=1.496;phyloP100way_vertebrate_rankscore=0.350;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=9.174;SiPhy_29way_logOdds_rankscore=0.361;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7194;ExAC_nontcga_ALL=0.7532;ExAC_nontcga_AFR=0.9296;ExAC_nontcga_AMR=0.7053;ExAC_nontcga_EAS=0.8543;ExAC_nontcga_FIN=0.8368;ExAC_nontcga_NFE=0.7482;ExAC_nontcga_OTH=0.7602;ExAC_nontcga_SAS=0.6220;AF=0.8196;AF_popmax=0.9313;AF_male=0.8221;AF_female=0.8164;AF_raw=0.8192;AF_afr=0.9313;AF_sas=.;AF_amr=0.7069;AF_eas=0.8492;AF_nfe=0.7634;AF_fin=0.8351;AF_asj=0.6655;AF_oth=0.7569;non_topmed_AF_popmax=0.9311;non_neuro_AF_popmax=0.9295;non_cancer_AF_popmax=.;controls_AF_popmax=0.9274;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051304;ALLELE_END GT 1|1 0|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152658191 rs9479298 T C 100 PASS AC=155;AF=0.790136;AN=214;NS=2504;DP=17165;EAS_AF=0.8631;AMR_AF=0.7133;AFR_AF=0.9455;EUR_AF=0.7425;SAS_AF=0.6084;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.790136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479298;CLNALLELEID=252186;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7401;ExAC_nontcga_ALL=0.7568;ExAC_nontcga_AFR=0.9214;ExAC_nontcga_AMR=0.7141;ExAC_nontcga_EAS=0.8580;ExAC_nontcga_FIN=0.8398;ExAC_nontcga_NFE=0.7533;ExAC_nontcga_OTH=0.7674;ExAC_nontcga_SAS=0.6269;AF=0.8169;AF_popmax=0.9225;AF_male=0.8192;AF_female=0.8139;AF_raw=0.8166;AF_afr=0.9225;AF_sas=.;AF_amr=0.7052;AF_eas=0.8492;AF_nfe=0.7632;AF_fin=0.8348;AF_asj=0.6655;AF_oth=0.7560;non_topmed_AF_popmax=0.9222;non_neuro_AF_popmax=0.9226;non_cancer_AF_popmax=.;controls_AF_popmax=0.9191;Kaviar_AF=0.723891;Kaviar_AC=111915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152658192 rs548788559 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17168;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548788559;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658216 rs9479299 A G 100 PASS AC=82;AF=0.242212;AN=214;NS=2504;DP=17783;EAS_AF=0.1329;AMR_AF=0.4683;AFR_AF=0.1044;EUR_AF=0.3946;SAS_AF=0.2239;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242212;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3255;AF_popmax=0.4610;AF_male=0.3194;AF_female=0.3332;AF_raw=0.3256;AF_afr=0.1488;AF_sas=.;AF_amr=0.4610;AF_eas=0.1284;AF_nfe=0.4128;AF_fin=0.4234;AF_asj=0.4172;AF_oth=0.3416;non_topmed_AF_popmax=0.4667;non_neuro_AF_popmax=0.4529;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.0719008;Kaviar_AC=11116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|1 1|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|0 1|0 0|0 1|1 +6 152660310 rs4870095 A G 100 PASS AC=64;AF=0.157149;AN=214;NS=2504;DP=20141;EAS_AF=0.0446;AMR_AF=0.3905;AFR_AF=0.0204;EUR_AF=0.333;SAS_AF=0.1115;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.157149;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4870095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2526;AF_popmax=0.3762;AF_male=0.2456;AF_female=0.2615;AF_raw=0.2531;AF_afr=0.0664;AF_sas=.;AF_amr=0.3762;AF_eas=0.0462;AF_nfe=0.3498;AF_fin=0.3382;AF_asj=0.3403;AF_oth=0.2711;non_topmed_AF_popmax=0.3815;non_neuro_AF_popmax=0.3592;non_cancer_AF_popmax=.;controls_AF_popmax=0.3455;Kaviar_AF=0.0587056;Kaviar_AC=9076;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|1 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|1 +6 152660451 rs71575926 G A 100 PASS AC=30;AF=0.0732827;AN=214;NS=2504;DP=19444;EAS_AF=0.0258;AMR_AF=0.072;AFR_AF=0.0817;EUR_AF=0.1471;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon74:c.C12063T:p.L4021L,SYNE1:NM_182961:exon75:c.C12276T:p.L4092L;1000g2015aug_all=0.0732827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71575926;CLNALLELEID=135845;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1315;ExAC_nontcga_ALL=0.1121;ExAC_nontcga_AFR=0.0876;ExAC_nontcga_AMR=0.0547;ExAC_nontcga_EAS=0.0296;ExAC_nontcga_FIN=0.2602;ExAC_nontcga_NFE=0.1417;ExAC_nontcga_OTH=0.1369;ExAC_nontcga_SAS=0.0458;AF=0.1351;AF_popmax=0.1467;AF_male=0.1326;AF_female=0.1383;AF_raw=0.1353;AF_afr=0.0893;AF_sas=.;AF_amr=0.0613;AF_eas=0.0385;AF_nfe=0.1467;AF_fin=0.2536;AF_asj=0.0379;AF_oth=0.1799;non_topmed_AF_popmax=0.1522;non_neuro_AF_popmax=0.1476;non_cancer_AF_popmax=.;controls_AF_popmax=0.1714;Kaviar_AF=0.113368;Kaviar_AC=17527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.141639;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|0 +6 152665261 rs4645434 C A 100 PASS AC=129;AF=0.545527;AN=214;NS=2504;DP=18310;EAS_AF=0.6488;AMR_AF=0.6182;AFR_AF=0.4138;EUR_AF=0.6024;SAS_AF=0.5072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D;1000g2015aug_all=0.545527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4645434;CLNALLELEID=135844;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.071;SIFT_converted_rankscore=0.351;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.244;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.392;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.289;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.001;MetaSVM_score=-0.976;MetaSVM_rankscore=0.360;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.062;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.235;CADD_raw_rankscore=0.117;CADD_phred=5.046;DANN_score=0.149;DANN_rankscore=0.003;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_rankscore=0.482;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.142;Eigen-PC-raw=-1.085;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.25;GERP++_RS_rankscore=0.089;phyloP100way_vertebrate=0.394;phyloP100way_vertebrate_rankscore=0.204;phyloP20way_mammalian=-0.863;phyloP20way_mammalian_rankscore=0.028;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.019;phastCons20way_mammalian_rankscore=0.132;SiPhy_29way_logOdds=10.963;SiPhy_29way_logOdds_rankscore=0.464;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6178;ExAC_nontcga_ALL=0.5740;ExAC_nontcga_AFR=0.4475;ExAC_nontcga_AMR=0.5963;ExAC_nontcga_EAS=0.6428;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.6025;ExAC_nontcga_OTH=0.5778;ExAC_nontcga_SAS=0.5128;AF=0.5587;AF_popmax=0.6575;AF_male=0.5587;AF_female=0.5586;AF_raw=0.5586;AF_afr=0.4487;AF_sas=.;AF_amr=0.6123;AF_eas=0.6575;AF_nfe=0.6082;AF_fin=0.5552;AF_asj=0.6632;AF_oth=0.5350;non_topmed_AF_popmax=0.6548;non_neuro_AF_popmax=0.6575;non_cancer_AF_popmax=.;controls_AF_popmax=0.6557;Kaviar_AF=0.575245;Kaviar_AC=88934;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413721|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.515273;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152665303 rs60344647 C T 100 PASS AC=1;AF=0.0269569;AN=214;NS=2504;DP=19421;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0961;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11925A:p.Q3975Q,SYNE1:NM_182961:exon74:c.G12138A:p.Q4046Q;1000g2015aug_all=0.0269569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60344647;CLNALLELEID=135843;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0825;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0242;AF_popmax=0.0839;AF_male=0.0257;AF_female=0.0223;AF_raw=0.0243;AF_afr=0.0839;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0241;AF_oth=0.0074;non_topmed_AF_popmax=0.0841;non_neuro_AF_popmax=0.0778;non_cancer_AF_popmax=.;controls_AF_popmax=0.0779;Kaviar_AF=0.0084152;Kaviar_AC=1301;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413721|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.348241;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152665374 rs73783853 C A 100 PASS AC=1;AF=0.00938498;AN=214;NS=2504;DP=20305;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.034;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73783853;CLNALLELEID=301950;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0208;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0070;AF_popmax=0.0231;AF_male=0.0071;AF_female=0.0069;AF_raw=0.0070;AF_afr=0.0231;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0241;AF_oth=0.0037;non_topmed_AF_popmax=0.0229;non_neuro_AF_popmax=0.0224;non_cancer_AF_popmax=.;controls_AF_popmax=0.0229;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.552186;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668211 rs111449472 A G 100 PASS AC=5;AF=0.00539137;AN=214;NS=2504;DP=18057;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.003;EUR_AF=0.0119;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.T11848C:p.C3950R,SYNE1:NM_182961:exon73:c.T12061C:p.C4021R;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111449472;CLNALLELEID=252187;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_score_rankscore=0.567;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_converted_rankscore=0.330;FATHMM_pred=T;PROVEAN_score=-4.93;PROVEAN_converted_rankscore=0.847;PROVEAN_pred=D;VEST3_score=0.318;VEST3_rankscore=0.465;MetaSVM_score=-0.916;MetaSVM_rankscore=0.461;MetaSVM_pred=T;MetaLR_score=0.139;MetaLR_rankscore=0.458;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.307;REVEL_rankscore=0.632;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.385;CADD_raw_rankscore=0.882;CADD_phred=29.5;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.897;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.666;Eigen-PC-raw=0.701;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=8.890;phyloP100way_vertebrate_rankscore=0.921;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.987;SiPhy_29way_logOdds_rankscore=0.799;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0044;AF=0.0104;AF_popmax=0.0148;AF_male=0.0112;AF_female=0.0095;AF_raw=0.0104;AF_afr=0.0032;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0148;AF_fin=0.0147;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0156;non_cancer_AF_popmax=.;controls_AF_popmax=0.0145;Kaviar_AF=0.0110801;Kaviar_AC=1713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478054;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668215 rs144596829 C T 100 PASS AC=3;AF=0.00479233;AN=214;NS=2504;DP=17951;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11844A:p.A3948A,SYNE1:NM_182961:exon73:c.G12057A:p.A4019A;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144596829;CLNALLELEID=135842;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0031;AF=0.0075;AF_popmax=0.0114;AF_male=0.0066;AF_female=0.0085;AF_raw=0.0075;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0104;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0094565;Kaviar_AC=1462;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478054;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668272 rs148493518 C T 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=18100;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11787A:p.A3929A,SYNE1:NM_182961:exon73:c.G12000A:p.A4000A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148493518;CLNALLELEID=195815;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0080;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0010;AF=0.0064;AF_popmax=0.0080;AF_male=0.0062;AF_female=0.0066;AF_raw=0.0064;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0164;AF_asj=0;AF_oth=0.0129;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.166504;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671475 rs9478320 A C 100 PASS AC=130;AF=0.58746;AN=214;NS=2504;DP=19601;EAS_AF=0.6171;AMR_AF=0.6282;AFR_AF=0.584;EUR_AF=0.6004;SAS_AF=0.5194;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.58746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478320;CLNALLELEID=252188;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7992;dbscSNV_RF_SCORE=0.178;esp6500siv2_ea=0.6098;ExAC_nontcga_ALL=0.5825;ExAC_nontcga_AFR=0.5664;ExAC_nontcga_AMR=0.6026;ExAC_nontcga_EAS=0.6083;ExAC_nontcga_FIN=0.5454;ExAC_nontcga_NFE=0.5998;ExAC_nontcga_OTH=0.5793;ExAC_nontcga_SAS=0.5234;AF=0.5897;AF_popmax=0.6210;AF_male=0.5899;AF_female=0.5894;AF_raw=0.5898;AF_afr=0.5697;AF_sas=.;AF_amr=0.6123;AF_eas=0.6210;AF_nfe=0.6060;AF_fin=0.5565;AF_asj=0.6621;AF_oth=0.5424;non_topmed_AF_popmax=0.6194;non_neuro_AF_popmax=0.6210;non_cancer_AF_popmax=.;controls_AF_popmax=0.6253;Kaviar_AF=0.578227;Kaviar_AC=89395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.073976;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152671499 rs139150802 A T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19762;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139150802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0031;AF_popmax=0.0059;AF_male=0.0034;AF_female=0.0028;AF_raw=0.0031;AF_afr=0.0007;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0032082;Kaviar_AC=496;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.859266;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671865 rs13210127 T G 100 PASS AC=4;AF=0.0543131;AN=214;NS=2504;DP=18027;EAS_AF=0.1359;AMR_AF=0.0216;AFR_AF=0.0159;EUR_AF=0.0139;SAS_AF=0.0869;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon71:c.A11576C:p.K3859T,SYNE1:NM_182961:exon71:c.A11621C:p.K3874T;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13210127;CLNALLELEID=135841;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.209;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.052;Polyphen2_HVAR_rankscore=0.241;Polyphen2_HVAR_pred=B;LRT_score=0.110;LRT_converted_rankscore=0.194;LRT_pred=N;MutationTaster_score=0.020;MutationTaster_converted_rankscore=0.516;MutationTaster_pred=P;MutationAssessor_score=1.62;MutationAssessor_score_rankscore=0.416;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.473;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.299;MetaSVM_score=-1.053;MetaSVM_rankscore=0.135;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.108;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.016;REVEL_rankscore=0.026;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.231;CADD_raw_rankscore=0.329;CADD_phred=17.71;DANN_score=0.949;DANN_rankscore=0.251;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_rankscore=0.488;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.498;Eigen-PC-raw=-0.389;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.070;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=2.3;GERP++_RS_rankscore=0.276;phyloP100way_vertebrate=0.447;phyloP100way_vertebrate_rankscore=0.213;phyloP20way_mammalian=0.088;phyloP20way_mammalian_rankscore=0.194;phastCons100way_vertebrate=0.868;phastCons100way_vertebrate_rankscore=0.305;phastCons20way_mammalian=0.723;phastCons20way_mammalian_rankscore=0.315;SiPhy_29way_logOdds=7.263;SiPhy_29way_logOdds_rankscore=0.252;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0201;ExAC_nontcga_ALL=0.0382;ExAC_nontcga_AFR=0.0097;ExAC_nontcga_AMR=0.0387;ExAC_nontcga_EAS=0.1347;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0188;ExAC_nontcga_OTH=0.0317;ExAC_nontcga_SAS=0.0776;AF=0.0222;AF_popmax=0.1213;AF_male=0.0223;AF_female=0.0222;AF_raw=0.0223;AF_afr=0.0091;AF_sas=.;AF_amr=0.0378;AF_eas=0.1213;AF_nfe=0.0184;AF_fin=0.0242;AF_asj=0.0172;AF_oth=0.0239;non_topmed_AF_popmax=0.1204;non_neuro_AF_popmax=0.1213;non_cancer_AF_popmax=.;controls_AF_popmax=0.1212;Kaviar_AF=0.0347667;Kaviar_AC=5375;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118052;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671919 rs5880967 G GA 100 PASS AC=130;AF=0.56889;AN=214;NS=2504;DP=17790;EAS_AF=0.6161;AMR_AF=0.6196;AFR_AF=0.5189;EUR_AF=0.6014;SAS_AF=0.5184;AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.56889;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5880967;CLNALLELEID=306415;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5742;ExAC_nontcga_AFR=0.5131;ExAC_nontcga_AMR=0.5992;ExAC_nontcga_EAS=0.6047;ExAC_nontcga_FIN=0.5449;ExAC_nontcga_NFE=0.5969;ExAC_nontcga_OTH=0.5727;ExAC_nontcga_SAS=0.5124;AF=0.5812;AF_popmax=0.6206;AF_male=0.5808;AF_female=0.5816;AF_raw=0.5751;AF_afr=0.5280;AF_sas=.;AF_amr=0.6146;AF_eas=0.6206;AF_nfe=0.6100;AF_fin=0.5666;AF_asj=0.6597;AF_oth=0.5385;non_topmed_AF_popmax=0.6190;non_neuro_AF_popmax=0.6206;non_cancer_AF_popmax=.;controls_AF_popmax=0.6256;Kaviar_AF=0.0643265;Kaviar_AC=9945;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955237;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152671975 rs1387549 A G 100 PASS AC=130;AF=0.571286;AN=214;NS=2504;DP=19112;EAS_AF=0.6161;AMR_AF=0.6225;AFR_AF=0.525;EUR_AF=0.6014;SAS_AF=0.5204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.571286;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1387549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5777;AF_popmax=0.6218;AF_male=0.5772;AF_female=0.5783;AF_raw=0.5779;AF_afr=0.5282;AF_sas=.;AF_amr=0.6111;AF_eas=0.6218;AF_nfe=0.6055;AF_fin=0.5559;AF_asj=0.6621;AF_oth=0.5370;non_topmed_AF_popmax=0.6202;non_neuro_AF_popmax=0.6218;non_cancer_AF_popmax=.;controls_AF_popmax=0.6258;Kaviar_AF=0.11703;Kaviar_AC=18093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673147 rs6908392 G A 100 PASS AC=130;AF=0.565895;AN=214;NS=2504;DP=20442;EAS_AF=0.6161;AMR_AF=0.6196;AFR_AF=0.5061;EUR_AF=0.6014;SAS_AF=0.5204;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.565895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6908392;CLNALLELEID=252189;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6134;ExAC_nontcga_ALL=0.5769;ExAC_nontcga_AFR=0.5055;ExAC_nontcga_AMR=0.5987;ExAC_nontcga_EAS=0.6058;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5751;ExAC_nontcga_SAS=0.5252;AF=0.5736;AF_popmax=0.6213;AF_male=0.5723;AF_female=0.5753;AF_raw=0.5729;AF_afr=0.5111;AF_sas=.;AF_amr=0.6120;AF_eas=0.6213;AF_nfe=0.6068;AF_fin=0.5565;AF_asj=0.6621;AF_oth=0.5359;non_topmed_AF_popmax=0.6197;non_neuro_AF_popmax=0.6213;non_cancer_AF_popmax=.;controls_AF_popmax=0.6264;Kaviar_AF=0.576668;Kaviar_AC=89154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673312 rs137919524 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19522;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon70:c.G11385A:p.T3795T,SYNE1:NM_182961:exon70:c.G11430A:p.T3810T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137919524;CLNALLELEID=269294;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0010;AF=0.0011;AF_popmax=0.0015;AF_male=0.0011;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.253947;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152673519 rs6932325 A C 100 PASS AC=130;AF=0.567492;AN=214;NS=2504;DP=19116;EAS_AF=0.6151;AMR_AF=0.6225;AFR_AF=0.5113;EUR_AF=0.6014;SAS_AF=0.5204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.567492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6932325;CLNALLELEID=252190;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6127;ExAC_nontcga_ALL=0.5776;ExAC_nontcga_AFR=0.5111;ExAC_nontcga_AMR=0.5989;ExAC_nontcga_EAS=0.6058;ExAC_nontcga_FIN=0.5453;ExAC_nontcga_NFE=0.6000;ExAC_nontcga_OTH=0.5737;ExAC_nontcga_SAS=0.5247;AF=0.5741;AF_popmax=0.6187;AF_male=0.5735;AF_female=0.5749;AF_raw=0.5735;AF_afr=0.5166;AF_sas=.;AF_amr=0.6089;AF_eas=0.6187;AF_nfe=0.6059;AF_fin=0.5534;AF_asj=0.6597;AF_oth=0.5358;non_topmed_AF_popmax=0.6177;non_neuro_AF_popmax=0.6187;non_cancer_AF_popmax=.;controls_AF_popmax=0.6197;Kaviar_AF=0.56952;Kaviar_AC=88049;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673543 rs11370219 C CT,CTT 100 PASS AC=119,1;AF=0.495807,0.00838658;AN=214;NS=2504;DP=19420;EAS_AF=0.498,0.0169;AMR_AF=0.5274,0.0058;AFR_AF=0.466,0.0098;EUR_AF=0.5378,0.002;SAS_AF=0.4683,0.0061;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.495807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11370219;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5624;AF_popmax=0.6161;AF_male=0.5611;AF_female=0.5642;AF_raw=0.5354;AF_afr=0.5139;AF_sas=.;AF_amr=0.5733;AF_eas=0.6161;AF_nfe=0.5956;AF_fin=0.4829;AF_asj=0.664;AF_oth=0.5206;non_topmed_AF_popmax=0.6150;non_neuro_AF_popmax=0.6161;non_cancer_AF_popmax=.;controls_AF_popmax=0.6153;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0045;AF_popmax=0.0095;AF_male=0.0050;AF_female=0.0037;AF_raw=0.0061;AF_afr=0.0095;AF_sas=.;AF_amr=0.005;AF_eas=0.0073;AF_nfe=0.0010;AF_fin=0.0059;AF_asj=0.004;AF_oth=0.0039;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0019978;Kaviar_AC=52;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|1 2|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|0 0|1 0|1 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 +6 152674464 rs143070183 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20815;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon69:c.G11142T:p.K3714N,SYNE1:NM_182961:exon69:c.G11187T:p.K3729N;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143070183;CLNALLELEID=195539;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.096;SIFT_converted_rankscore=0.310;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=0.980;MutationTaster_converted_rankscore=0.251;MutationTaster_pred=N;MutationAssessor_score=1.385;MutationAssessor_score_rankscore=0.346;MutationAssessor_pred=L;FATHMM_score=0.59;FATHMM_converted_rankscore=0.540;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=-1.076;MetaSVM_rankscore=0.081;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.304;M-CAP_pred=T;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.840;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.944;DANN_rankscore=0.242;fathmm-MKL_coding_score=0.810;fathmm-MKL_coding_rankscore=0.402;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.437;Eigen-PC-raw=-0.277;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.063;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=3.05;GERP++_RS_rankscore=0.341;phyloP100way_vertebrate=0.377;phyloP100way_vertebrate_rankscore=0.201;phyloP20way_mammalian=0.070;phyloP20way_mammalian_rankscore=0.177;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=4.006;SiPhy_29way_logOdds_rankscore=0.090;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0018;AF=0.0041;AF_popmax=0.0061;AF_male=0.0041;AF_female=0.0041;AF_raw=0.0041;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0061;AF_fin=0.0029;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.235883;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152674524 rs149260051 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20776;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon69:c.A11082G:p.E3694E,SYNE1:NM_182961:exon69:c.A11127G:p.E3709E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149260051;CLNALLELEID=267930;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0026;AF_male=0.0013;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0026;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.163144;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152675854 rs9397102 A G 100 PASS AC=130;AF=0.568291;AN=214;NS=2504;DP=19686;EAS_AF=0.6171;AMR_AF=0.6196;AFR_AF=0.5136;EUR_AF=0.6014;SAS_AF=0.5215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;1000g2015aug_all=0.568291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397102;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6133;ExAC_nontcga_ALL=0.5778;ExAC_nontcga_AFR=0.5130;ExAC_nontcga_AMR=0.5996;ExAC_nontcga_EAS=0.6093;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5735;ExAC_nontcga_SAS=0.5247;AF=0.5763;AF_popmax=0.6248;AF_male=0.5756;AF_female=0.5772;AF_raw=0.5762;AF_afr=0.5215;AF_sas=.;AF_amr=0.6120;AF_eas=0.6248;AF_nfe=0.6059;AF_fin=0.5562;AF_asj=0.6597;AF_oth=0.5379;non_topmed_AF_popmax=0.6234;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.465042;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;1000g2015aug_all=0.568291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397102;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6133;ExAC_nontcga_ALL=0.5778;ExAC_nontcga_AFR=0.5130;ExAC_nontcga_AMR=0.5996;ExAC_nontcga_EAS=0.6093;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5735;ExAC_nontcga_SAS=0.5247;AF=0.5763;AF_popmax=0.6248;AF_male=0.5756;AF_female=0.5772;AF_raw=0.5762;AF_afr=0.5215;AF_sas=.;AF_amr=0.6120;AF_eas=0.6248;AF_nfe=0.6059;AF_fin=0.5562;AF_asj=0.6597;AF_oth=0.5379;non_topmed_AF_popmax=0.6234;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.465042;ALLELE_END GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152679518 rs145911138 C T 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=18570;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.G10619A:p.R3540H,SYNE1:NM_182961:exon66:c.G10598A:p.R3533H;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145911138;CLNALLELEID=135838;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.16;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.025;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_converted_rankscore=0.244;LRT_pred=N;MutationTaster_score=0.972;MutationTaster_converted_rankscore=0.389;MutationTaster_pred=D;MutationAssessor_score=0.945;MutationAssessor_score_rankscore=0.238;MutationAssessor_pred=L;FATHMM_score=0.6;FATHMM_converted_rankscore=0.537;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.283;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.044;MetaSVM_score=-1.034;MetaSVM_rankscore=0.190;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.270;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.028;REVEL_rankscore=0.066;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.946;CADD_raw_rankscore=0.531;CADD_phred=23.6;DANN_score=0.933;DANN_rankscore=0.225;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_rankscore=0.372;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.236;Eigen-PC-raw=-0.093;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.23;GERP++_RS_rankscore=0.360;phyloP100way_vertebrate=1.970;phyloP100way_vertebrate_rankscore=0.399;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.865;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=12.872;SiPhy_29way_logOdds_rankscore=0.572;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.02;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0137;AF=0.0101;AF_popmax=0.0128;AF_male=0.0103;AF_female=0.0098;AF_raw=0.0101;AF_afr=0.0042;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0138;AF_asj=0.0382;AF_oth=0.0129;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0124;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0122702;Kaviar_AC=1897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.386715;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152679594 rs62426382 A G 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=16190;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.T10543C:p.L3515L,SYNE1:NM_182961:exon66:c.T10522C:p.L3508L;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62426382;CLNALLELEID=135837;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0176;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0160;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0016;AF=0.0092;AF_popmax=0.0132;AF_male=0.0093;AF_female=0.0090;AF_raw=0.0092;AF_afr=0.0015;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0132;AF_fin=0.0109;AF_asj=0.0414;AF_oth=0.0138;non_topmed_AF_popmax=0.0126;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0098;Kaviar_AF=0.0106208;Kaviar_AC=1642;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.388364;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152679729 rs9478326 G A 100 PASS AC=33;AF=0.143371;AN=214;NS=2504;DP=16623;EAS_AF=0.003;AMR_AF=0.0865;AFR_AF=0.3064;EUR_AF=0.163;SAS_AF=0.0879;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.143371;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478326;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2091;AF_popmax=0.3078;AF_male=0.2103;AF_female=0.2076;AF_raw=0.2093;AF_afr=0.3078;AF_sas=.;AF_amr=0.0816;AF_eas=0.0083;AF_nfe=0.1696;AF_fin=0.2686;AF_asj=0.0690;AF_oth=0.2164;non_topmed_AF_popmax=0.3084;non_neuro_AF_popmax=0.3117;non_cancer_AF_popmax=.;controls_AF_popmax=0.3059;Kaviar_AF=0.027781;Kaviar_AC=4295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.303013;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|0 +6 152683278 rs181220837 A G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19536;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181220837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0031;AF_popmax=0.0050;AF_male=0.0027;AF_female=0.0035;AF_raw=0.0031;AF_afr=0.0009;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0023;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0056;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152683413 rs4407724 G T 100 PASS AC=148;AF=0.659145;AN=214;NS=2504;DP=20411;EAS_AF=0.7927;AMR_AF=0.6859;AFR_AF=0.5764;EUR_AF=0.6799;SAS_AF=0.593;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G;1000g2015aug_all=0.659145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4407724;CLNALLELEID=135835;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6806;ExAC_nontcga_ALL=0.6522;ExAC_nontcga_AFR=0.5797;ExAC_nontcga_AMR=0.6688;ExAC_nontcga_EAS=0.7861;ExAC_nontcga_FIN=0.6039;ExAC_nontcga_NFE=0.6646;ExAC_nontcga_OTH=0.6571;ExAC_nontcga_SAS=0.5951;AF=0.6482;AF_popmax=0.7745;AF_male=0.6488;AF_female=0.6473;AF_raw=0.6477;AF_afr=0.5867;AF_sas=.;AF_amr=0.6690;AF_eas=0.7745;AF_nfe=0.6764;AF_fin=0.6184;AF_asj=0.7379;AF_oth=0.6133;non_topmed_AF_popmax=0.7755;non_neuro_AF_popmax=0.7745;non_cancer_AF_popmax=.;controls_AF_popmax=0.7682;Kaviar_AF=0.652644;Kaviar_AC=100900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.256570;ALLELE_END GT 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|0 1|1 +6 152686071 rs140861713 A G 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18722;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.T10077C:p.S3359S,SYNE1:NM_182961:exon63:c.T10056C:p.S3352S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140861713;CLNALLELEID=195497;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0023;AF=0.0036;AF_popmax=0.0054;AF_male=0.0035;AF_female=0.0037;AF_raw=0.0037;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0037;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546312;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152686090 rs150170988 G T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=19007;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150170988;CLNALLELEID=195496;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.098;SIFT_converted_rankscore=0.308;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.187;LRT_converted_rankscore=0.169;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.472;MutationTaster_pred=D;MutationAssessor_score=0.84;MutationAssessor_score_rankscore=0.212;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.373;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.149;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.260;M-CAP_pred=T;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.251;CADD_raw_rankscore=0.332;CADD_phred=17.84;DANN_score=0.845;DANN_rankscore=0.148;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.529;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.370;Eigen-PC-raw=-0.245;GenoCanyon_score=0.123;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.861;GERP++_RS_rankscore=0.181;phyloP100way_vertebrate=3.031;phyloP100way_vertebrate_rankscore=0.492;phyloP20way_mammalian=-0.371;phyloP20way_mammalian_rankscore=0.067;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=4.372;SiPhy_29way_logOdds_rankscore=0.106;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0023;AF=0.0037;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0037;AF_raw=0.0037;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0037;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.514360;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152688366 rs548283137 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19084;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon62:c.C9980T:p.T3327M,SYNE1:NM_182961:exon62:c.C9959T:p.T3320M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548283137;CLNALLELEID=269042;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.172;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.262;MutationTaster_pred=N;MutationAssessor_score=-2.42;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.4;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=1.05;PROVEAN_converted_rankscore=0.014;PROVEAN_pred=N;VEST3_score=0.306;VEST3_rankscore=0.371;MetaSVM_score=-1.008;MetaSVM_rankscore=0.276;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.039;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.174;M-CAP_pred=T;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.385;CADD_raw_rankscore=0.131;CADD_phred=6.486;DANN_score=0.083;DANN_rankscore=0.001;fathmm-MKL_coding_score=0.408;fathmm-MKL_coding_rankscore=0.263;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.911;Eigen-PC-raw=-0.600;GenoCanyon_score=0.607;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=3.75;GERP++_RS_rankscore=0.421;phyloP100way_vertebrate=7.131;phyloP100way_vertebrate_rankscore=0.767;phyloP20way_mammalian=-0.161;phyloP20way_mammalian_rankscore=0.107;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=11.193;SiPhy_29way_logOdds_rankscore=0.477;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.074810;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152688567 rs7775637 C T 100 PASS AC=192;AF=0.863618;AN=214;NS=2504;DP=19102;EAS_AF=0.8542;AMR_AF=0.8112;AFR_AF=0.9728;EUR_AF=0.9284;SAS_AF=0.6963;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.863618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7775637;CLNALLELEID=252193;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9177;ExAC_nontcga_ALL=0.8680;ExAC_nontcga_AFR=0.9646;ExAC_nontcga_AMR=0.7345;ExAC_nontcga_EAS=0.8521;ExAC_nontcga_FIN=0.9356;ExAC_nontcga_NFE=0.9156;ExAC_nontcga_OTH=0.8847;ExAC_nontcga_SAS=0.7279;AF=0.9314;AF_popmax=0.9656;AF_male=0.9322;AF_female=0.9304;AF_raw=0.9312;AF_afr=0.9656;AF_sas=.;AF_amr=0.7671;AF_eas=0.8580;AF_nfe=0.9301;AF_fin=0.9398;AF_asj=0.8690;AF_oth=0.8989;non_topmed_AF_popmax=0.9657;non_neuro_AF_popmax=0.9660;non_cancer_AF_popmax=.;controls_AF_popmax=0.9638;Kaviar_AF=0.859213;Kaviar_AC=132836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152690559 rs1873176 G A 100 PASS AC=103;AF=0.410942;AN=214;NS=2504;DP=18454;EAS_AF=0.4593;AMR_AF=0.5101;AFR_AF=0.2337;EUR_AF=0.5298;SAS_AF=0.408;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.410942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1873176;CLNALLELEID=252195;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5455;ExAC_nontcga_ALL=0.4774;ExAC_nontcga_AFR=0.2818;ExAC_nontcga_AMR=0.4833;ExAC_nontcga_EAS=0.4366;ExAC_nontcga_FIN=0.4892;ExAC_nontcga_NFE=0.5313;ExAC_nontcga_OTH=0.4782;ExAC_nontcga_SAS=0.4178;AF=0.4565;AF_popmax=0.5392;AF_male=0.4565;AF_female=0.4565;AF_raw=0.4561;AF_afr=0.2849;AF_sas=.;AF_amr=0.4941;AF_eas=0.4584;AF_nfe=0.5392;AF_fin=0.5046;AF_asj=0.5310;AF_oth=0.4493;non_topmed_AF_popmax=0.5308;non_neuro_AF_popmax=0.5386;non_cancer_AF_popmax=.;controls_AF_popmax=0.5100;Kaviar_AF=0.482219;Kaviar_AC=74552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 +6 152694184 rs6913579 T C 100 PASS AC=103;AF=0.468251;AN=214;NS=2504;DP=17998;EAS_AF=0.4613;AMR_AF=0.536;AFR_AF=0.4365;EUR_AF=0.5308;SAS_AF=0.4059;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E;1000g2015aug_all=0.468251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6913579;CLNALLELEID=135899;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5458;ExAC_nontcga_ALL=0.4951;ExAC_nontcga_AFR=0.4786;ExAC_nontcga_AMR=0.4918;ExAC_nontcga_EAS=0.4354;ExAC_nontcga_FIN=0.4887;ExAC_nontcga_NFE=0.5315;ExAC_nontcga_OTH=0.4813;ExAC_nontcga_SAS=0.4180;AF=0.5115;AF_popmax=0.5391;AF_male=0.5116;AF_female=0.5113;AF_raw=0.5110;AF_afr=0.4811;AF_sas=.;AF_amr=0.5166;AF_eas=0.4553;AF_nfe=0.5391;AF_fin=0.5026;AF_asj=0.5310;AF_oth=0.4623;non_topmed_AF_popmax=0.5309;non_neuro_AF_popmax=0.5382;non_cancer_AF_popmax=.;controls_AF_popmax=0.5164;Kaviar_AF=0.481533;Kaviar_AC=74446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072521;ALLELE_END GT 0|1 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 +6 152694190 rs35379711 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17703;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9510G:p.Q3170Q,SYNE1:NM_182961:exon59:c.A9489G:p.Q3163Q;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35379711;CLNALLELEID=265921;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0011;AF_popmax=0.0015;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0.0241;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072521;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152697675 rs117020413 G T 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=17012;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon58:c.C9186A:p.S3062S,SYNE1:NM_182961:exon58:c.C9165A:p.S3055S;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117020413;CLNALLELEID=252196;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0121;ExAC_nontcga_ALL=0.0137;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0301;AF=0.0091;AF_popmax=0.0135;AF_male=0.0088;AF_female=0.0095;AF_raw=0.0091;AF_afr=0.0020;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0083;AF_asj=0.0172;AF_oth=0.0184;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0123;Kaviar_AF=0.0126518;Kaviar_AC=1956;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.456772;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152697706 rs214955 C T 100 PASS AC=111;AF=0.529153;AN=214;NS=2504;DP=16986;EAS_AF=0.5387;AMR_AF=0.4654;AFR_AF=0.5514;EUR_AF=0.4712;SAS_AF=0.5941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214955;CLNALLELEID=252197;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4606;ExAC_nontcga_ALL=0.5144;ExAC_nontcga_AFR=0.5554;ExAC_nontcga_AMR=0.5082;ExAC_nontcga_EAS=0.5620;ExAC_nontcga_FIN=0.5141;ExAC_nontcga_NFE=0.4751;ExAC_nontcga_OTH=0.5275;ExAC_nontcga_SAS=0.6027;AF=0.5004;AF_popmax=0.5442;AF_male=0.5009;AF_female=0.4997;AF_raw=0.4997;AF_afr=0.5442;AF_sas=.;AF_amr=0.4976;AF_eas=0.5432;AF_nfe=0.4688;AF_fin=0.4991;AF_asj=0.4793;AF_oth=0.5470;non_topmed_AF_popmax=0.5439;non_neuro_AF_popmax=0.5432;non_cancer_AF_popmax=.;controls_AF_popmax=0.5351;Kaviar_AF=0.49196;Kaviar_AC=76058;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.825978;ALLELE_END GT 1|0 0|1 0|1 1|1 0|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|1 0|1 1|0 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|1 1|1 0|1 1|1 1|0 +6 152702434 rs140568392 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19623;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon56:c.G8737A:p.E2913K,SYNE1:NM_182961:exon56:c.G8716A:p.E2906K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140568392;CLNALLELEID=560489;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.119;SIFT_converted_rankscore=0.280;SIFT_pred=T;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.181;Polyphen2_HVAR_pred=B;LRT_score=0.383;LRT_converted_rankscore=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.87;FATHMM_converted_rankscore=0.464;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.082;VEST3_rankscore=0.388;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.199;M-CAP_pred=T;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.351;CADD_raw_rankscore=0.344;CADD_phred=18.50;DANN_score=0.975;DANN_rankscore=0.338;fathmm-MKL_coding_score=0.074;fathmm-MKL_coding_rankscore=0.133;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.821;Eigen-PC-raw=-0.695;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.26;GERP++_RS_rankscore=0.363;phyloP100way_vertebrate=1.864;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.272;phastCons100way_vertebrate_rankscore=0.248;phastCons20way_mammalian=0.938;phastCons20way_mammalian_rankscore=0.411;SiPhy_29way_logOdds=8.760;SiPhy_29way_logOdds_rankscore=0.336;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=5.721e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205414|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004591|hsa-miR-124-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1792781|N/A|RBL2|PAZAR,OREG1798830|N/A|RBL2|PAZAR,OREG1852140|N/A|RB1|PAZAR,OREG1780031|N/A|RBL2|PAZAR,OREG1814453|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.610273;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152708310 rs214950 G A 100 PASS AC=62;AF=0.249002;AN=214;NS=2504;DP=16439;EAS_AF=0.4018;AMR_AF=0.1614;AFR_AF=0.152;EUR_AF=0.2167;SAS_AF=0.318;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8405T:p.A2802V,SYNE1:NM_182961:exon54:c.C8384T:p.A2795V;1000g2015aug_all=0.249002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214950;CLNALLELEID=135898;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.028;SIFT_converted_rankscore=0.461;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.238;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_converted_rankscore=0.270;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=1.27;FATHMM_converted_rankscore=0.361;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.026;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.071;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.104;REVEL_rankscore=0.301;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.486;CADD_raw_rankscore=0.141;CADD_phred=7.324;DANN_score=0.310;DANN_rankscore=0.017;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_rankscore=0.396;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.872;Eigen-PC-raw=-0.803;GenoCanyon_score=0.235;GenoCanyon_score_rankscore=0.185;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.51;GERP++_RS_rankscore=0.220;phyloP100way_vertebrate=4.575;phyloP100way_vertebrate_rankscore=0.604;phyloP20way_mammalian=-0.274;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.148;SiPhy_29way_logOdds_rankscore=0.035;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2190;ExAC_nontcga_ALL=0.2396;ExAC_nontcga_AFR=0.1484;ExAC_nontcga_AMR=0.1862;ExAC_nontcga_EAS=0.4193;ExAC_nontcga_FIN=0.1915;ExAC_nontcga_NFE=0.2236;ExAC_nontcga_OTH=0.2680;ExAC_nontcga_SAS=0.3116;AF=0.2067;AF_popmax=0.4425;AF_male=0.2077;AF_female=0.2055;AF_raw=0.2066;AF_afr=0.1559;AF_sas=.;AF_amr=0.1986;AF_eas=0.4425;AF_nfe=0.2150;AF_fin=0.1836;AF_asj=0.2569;AF_oth=0.2274;non_topmed_AF_popmax=0.4444;non_neuro_AF_popmax=0.4425;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.232397;Kaviar_AC=35929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.966637;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152708366 rs140234214 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8349G:p.L2783L,SYNE1:NM_182961:exon54:c.C8328G:p.L2776L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140234214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.010708;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152708472 rs181218387 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20463;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.G8243A:p.R2748K,SYNE1:NM_182961:exon54:c.G8222A:p.R2741K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181218387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.819;SIFT_converted_rankscore=0.143;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.138;LRT_converted_rankscore=0.184;LRT_pred=N;MutationTaster_score=0.872;MutationTaster_converted_rankscore=0.282;MutationTaster_pred=N;MutationAssessor_score=0.515;MutationAssessor_score_rankscore=0.136;MutationAssessor_pred=N;FATHMM_score=1.41;FATHMM_converted_rankscore=0.334;FATHMM_pred=T;PROVEAN_score=-0.06;PROVEAN_converted_rankscore=0.079;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.134;MetaSVM_score=-0.971;MetaSVM_rankscore=0.370;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.056;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.113;M-CAP_pred=T;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.040;CADD_raw_rankscore=0.194;CADD_phred=10.89;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.521;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.702;Eigen-PC-raw=-0.556;GenoCanyon_score=0.803;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.14;GERP++_RS_rankscore=0.197;phyloP100way_vertebrate=1.243;phyloP100way_vertebrate_rankscore=0.322;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.875;phastCons20way_mammalian_rankscore=0.366;SiPhy_29way_logOdds=10.379;SiPhy_29way_logOdds_rankscore=0.431;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.538e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.829875;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152711395 rs214943 T A 100 PASS AC=91;AF=0.561901;AN=214;NS=2504;DP=19076;EAS_AF=0.749;AMR_AF=0.3228;AFR_AF=0.733;EUR_AF=0.3887;SAS_AF=0.4857;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.561901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214943;CLNALLELEID=252198;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3801;ExAC_nontcga_ALL=0.4465;ExAC_nontcga_AFR=0.6952;ExAC_nontcga_AMR=0.2921;ExAC_nontcga_EAS=0.7664;ExAC_nontcga_FIN=0.3952;ExAC_nontcga_NFE=0.3865;ExAC_nontcga_OTH=0.4740;ExAC_nontcga_SAS=0.4791;AF=0.4884;AF_popmax=0.7864;AF_male=0.4954;AF_female=0.4796;AF_raw=0.4882;AF_afr=0.6951;AF_sas=.;AF_amr=0.3262;AF_eas=0.7864;AF_nfe=0.3805;AF_fin=0.3834;AF_asj=0.4414;AF_oth=0.4077;non_topmed_AF_popmax=0.7902;non_neuro_AF_popmax=0.7864;non_cancer_AF_popmax=.;controls_AF_popmax=0.7862;Kaviar_AF=0.432394;Kaviar_AC=66849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.943011;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152711422 rs547324404 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19131;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.G8191A:p.A2731T,SYNE1:NM_182961:exon53:c.G8170A:p.A2724T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547324404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.206;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.549;Polyphen2_HVAR_rankscore=0.474;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.361;LRT_pred=N;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.298;MutationTaster_pred=N;MutationAssessor_score=2.3;MutationAssessor_score_rankscore=0.659;MutationAssessor_pred=M;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=-1.11;PROVEAN_converted_rankscore=0.287;PROVEAN_pred=N;VEST3_score=0.278;VEST3_rankscore=0.336;MetaSVM_score=-1.106;MetaSVM_rankscore=0.034;MetaSVM_pred=T;MetaLR_score=0.055;MetaLR_rankscore=0.233;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.260;M-CAP_pred=T;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=0.373;MutPred_rankscore=0.386;CADD_raw=4.088;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.681;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.079;Eigen-PC-raw=0.233;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.222;phyloP100way_vertebrate_rankscore=0.581;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.066;phastCons20way_mammalian_rankscore=0.174;SiPhy_29way_logOdds=13.687;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.427e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.168299;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +6 152711428 rs151091241 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=19105;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151091241;CLNALLELEID=195116;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.533;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.407;LRT_converted_rankscore=0.046;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_converted_rankscore=0.344;FATHMM_pred=T;PROVEAN_score=0.09;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.069;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.098;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.289;CADD_raw_rankscore=0.069;CADD_phred=0.703;DANN_score=0.690;DANN_rankscore=0.086;fathmm-MKL_coding_score=0.019;fathmm-MKL_coding_rankscore=0.057;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.589;Eigen-PC-raw=-1.710;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-12.3;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=-0.705;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-3.379;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=7.246;SiPhy_29way_logOdds_rankscore=0.251;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0063;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0111;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0035;AF=0.0081;AF_popmax=0.0111;AF_male=0.0076;AF_female=0.0088;AF_raw=0.0081;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0111;AF_fin=0.0132;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.168299;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712440 rs117480635 G T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15514;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon52:c.C7997A:p.T2666N,SYNE1:NM_182961:exon52:c.C7976A:p.T2659N;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117480635;CLNALLELEID=195101;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.238;SIFT_converted_rankscore=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.612;Polyphen2_HDIV_rankscore=0.396;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.203;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_converted_rankscore=0.252;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-1.89;PROVEAN_converted_rankscore=0.441;PROVEAN_pred=N;VEST3_score=0.056;VEST3_rankscore=0.039;MetaSVM_score=-1.032;MetaSVM_rankscore=0.199;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.108;REVEL_rankscore=0.311;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.895;CADD_raw_rankscore=0.179;CADD_phred=10.05;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.856;fathmm-MKL_coding_rankscore=0.444;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.070;Eigen-PC-raw=-0.040;GenoCanyon_score=0.946;GenoCanyon_score_rankscore=0.277;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.04;GERP++_RS_rankscore=0.672;phyloP100way_vertebrate=3.183;phyloP100way_vertebrate_rankscore=0.504;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.032;phastCons20way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=11.596;SiPhy_29way_logOdds_rankscore=0.500;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=0.0017;AF_popmax=0.0031;AF_male=0.0017;AF_female=0.0016;AF_raw=0.0017;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0025549;Kaviar_AC=395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.262168;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +6 152712714 rs201131946 G A 100 PASS AC=32;AF=0.169728;AN=214;NS=2504;DP=17382;EAS_AF=0.3175;AMR_AF=0.1124;AFR_AF=0.1112;EUR_AF=0.1461;SAS_AF=0.1616;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201131946;CLNALLELEID=306728;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0058;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0034;AF=0.0006;AF_popmax=0.0082;AF_male=0.0004;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0082;AF_nfe=0.0007;AF_fin=0.0011;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0125;Kaviar_AF=0.0057697;Kaviar_AC=892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.786451;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712715 rs550804556 G A 100 PASS AC=32;AF=0.169728;AN=214;NS=2504;DP=16886;EAS_AF=0.3175;AMR_AF=0.1124;AFR_AF=0.1112;EUR_AF=0.1461;SAS_AF=0.1616;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550804556;CLNALLELEID=299475;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0057891;Kaviar_AC=895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.786451;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712730 rs370201028 G A 100 PASS AC=70;AF=0.406949;AN=214;NS=2504;DP=17704;EAS_AF=0.4573;AMR_AF=0.2997;AFR_AF=0.5182;EUR_AF=0.3111;SAS_AF=0.3793;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.406949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370201028;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0743;ExAC_nontcga_AMR=0.0078;ExAC_nontcga_EAS=0.0049;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0218;AF=0.0279;AF_popmax=0.0543;AF_male=0.0297;AF_female=0.0255;AF_raw=0.0345;AF_afr=0.0543;AF_sas=.;AF_amr=0.0133;AF_eas=0.0021;AF_nfe=0.0174;AF_fin=0.0168;AF_asj=0.0385;AF_oth=0.0216;non_topmed_AF_popmax=0.0546;non_neuro_AF_popmax=0.0487;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0150192;Kaviar_AC=2322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 +6 152712752 rs214944 C T 100 PASS AC=91;AF=0.558706;AN=214;NS=2504;DP=15242;EAS_AF=0.749;AMR_AF=0.3228;AFR_AF=0.7209;EUR_AF=0.3887;SAS_AF=0.4857;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214944;CLNALLELEID=252199;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2696;ExAC_nontcga_ALL=0.3292;ExAC_nontcga_AFR=0.5924;ExAC_nontcga_AMR=0.1977;ExAC_nontcga_EAS=0.5356;ExAC_nontcga_FIN=0.1988;ExAC_nontcga_NFE=0.2410;ExAC_nontcga_OTH=0.3795;ExAC_nontcga_SAS=0.4252;AF=0.4808;AF_popmax=0.7829;AF_male=0.4880;AF_female=0.4717;AF_raw=0.4839;AF_afr=0.6830;AF_sas=.;AF_amr=0.3232;AF_eas=0.7829;AF_nfe=0.3754;AF_fin=0.3723;AF_asj=0.4366;AF_oth=0.3965;non_topmed_AF_popmax=0.7868;non_neuro_AF_popmax=0.7829;non_cancer_AF_popmax=.;controls_AF_popmax=0.7830;Kaviar_AF=0.263897;Kaviar_AC=40799;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.937609;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152717896 rs78034368 T C 100 PASS AC=8;AF=0.014377;AN=214;NS=2504;DP=18389;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.0358;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78034368;CLNALLELEID=306736;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0336;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0191;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0360;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0298;AF=0.0228;AF_popmax=0.0338;AF_male=0.0227;AF_female=0.0228;AF_raw=0.0228;AF_afr=0.0080;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0338;AF_fin=0.0204;AF_asj=0.0241;AF_oth=0.0285;non_topmed_AF_popmax=0.0341;non_neuro_AF_popmax=0.0345;non_cancer_AF_popmax=.;controls_AF_popmax=0.0344;Kaviar_AF=0.0276452;Kaviar_AC=4274;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.136500;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +6 152718008 rs139070088 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19921;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon50:c.A7479G:p.Q2493Q,SYNE1:NM_182961:exon50:c.A7458G:p.Q2486Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139070088;CLNALLELEID=267913;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0004;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.451756;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152719792 rs199792324 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon49:c.G7333T:p.D2445Y,SYNE1:NM_182961:exon49:c.G7312T:p.D2438Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199792324;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.858;Polyphen2_HVAR_rankscore=0.593;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.83;MutationAssessor_score_rankscore=0.826;MutationAssessor_pred=M;FATHMM_score=0.17;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=-4.24;PROVEAN_converted_rankscore=0.760;PROVEAN_pred=D;VEST3_score=0.831;VEST3_rankscore=0.819;MetaSVM_score=-0.432;MetaSVM_rankscore=0.710;MetaSVM_pred=T;MetaLR_score=0.294;MetaLR_rankscore=0.666;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.614;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.234;CADD_raw_rankscore=0.861;CADD_phred=28.8;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.897;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.571;Eigen-PC-raw=0.556;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.02;GERP++_RS_rankscore=0.666;phyloP100way_vertebrate=5.135;phyloP100way_vertebrate_rankscore=0.644;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.677;phastCons20way_mammalian_rankscore=0.304;SiPhy_29way_logOdds=18.706;SiPhy_29way_logOdds_rankscore=0.916;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.358161;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152722228 rs177330 A G 100 PASS AC=91;AF=0.519768;AN=214;NS=2504;DP=18737;EAS_AF=0.749;AMR_AF=0.3156;AFR_AF=0.5779;EUR_AF=0.3887;SAS_AF=0.4847;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs177330;CLNALLELEID=252201;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3803;ExAC_nontcga_ALL=0.4358;ExAC_nontcga_AFR=0.5629;ExAC_nontcga_AMR=0.2887;ExAC_nontcga_EAS=0.7650;ExAC_nontcga_FIN=0.3961;ExAC_nontcga_NFE=0.3878;ExAC_nontcga_OTH=0.4620;ExAC_nontcga_SAS=0.4806;AF=0.4519;AF_popmax=0.7871;AF_male=0.4569;AF_female=0.4457;AF_raw=0.4519;AF_afr=0.5671;AF_sas=.;AF_amr=0.3144;AF_eas=0.7871;AF_nfe=0.3804;AF_fin=0.3831;AF_asj=0.4414;AF_oth=0.3969;non_topmed_AF_popmax=0.7900;non_neuro_AF_popmax=0.7871;non_cancer_AF_popmax=.;controls_AF_popmax=0.7857;Kaviar_AF=0.41601;Kaviar_AC=64316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152725470 rs146380883 TAACTA T 100 PASS AC=1;AF=0.071885;AN=214;NS=2504;DP=15909;EAS_AF=0.1954;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.1391;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146380883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0459;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0831;ExAC_nontcga_EAS=0.2196;ExAC_nontcga_FIN=0.0371;ExAC_nontcga_NFE=0.0072;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0937;AF=0.0208;AF_popmax=0.2112;AF_male=0.0216;AF_female=0.0199;AF_raw=0.0211;AF_afr=0.0020;AF_sas=.;AF_amr=0.0760;AF_eas=0.2112;AF_nfe=0.0067;AF_fin=0.0321;AF_asj=0.0207;AF_oth=0.0222;non_topmed_AF_popmax=0.2119;non_neuro_AF_popmax=0.2112;non_cancer_AF_popmax=.;controls_AF_popmax=0.1941;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.360903;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152728281 rs190301879 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13904;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon45:c.C6612T:p.S2204S,SYNE1:NM_182961:exon45:c.C6591T:p.S2197S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190301879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.77e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.929e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.523e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.110740;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152730221 rs202207841 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon44:c.C6543T:p.T2181T,SYNE1:NM_182961:exon44:c.C6522T:p.T2174T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202207841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.767e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302069;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152730736 rs141671123 A G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18037;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon43:c.T6360C:p.T2120T,SYNE1:NM_182961:exon43:c.T6339C:p.T2113T;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141671123;CLNALLELEID=267342;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0010;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.015202;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152737559 rs200119679 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17029;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SYNE1:NM_033071:exon41:c.C6034T:p.R2012X,SYNE1:NM_182961:exon41:c.C6013T:p.R2005X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200119679;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.230;LRT_converted_rankscore=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.182;CADD_raw_rankscore=0.945;CADD_phred=34;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.215;Eigen-PC-raw=-0.565;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.058;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.23;GERP++_RS_rankscore=0.065;phyloP100way_vertebrate=0.712;phyloP100way_vertebrate_rankscore=0.253;phyloP20way_mammalian=-0.343;phyloP20way_mammalian_rankscore=0.071;phastCons100way_vertebrate=0.125;phastCons100way_vertebrate_rankscore=0.230;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=5.358;SiPhy_29way_logOdds_rankscore=0.153;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.882234;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152740681 rs34651734 T TA 100 PASS AC=52;AF=0.35024;AN=214;NS=2504;DP=16745;EAS_AF=0.4038;AMR_AF=0.2233;AFR_AF=0.4796;EUR_AF=0.2674;SAS_AF=0.2955;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397808272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2008;ExAC_nontcga_ALL=0.3640;ExAC_nontcga_AFR=0.4722;ExAC_nontcga_AMR=0.2822;ExAC_nontcga_EAS=0.4298;ExAC_nontcga_FIN=0.3141;ExAC_nontcga_NFE=0.3375;ExAC_nontcga_OTH=0.3451;ExAC_nontcga_SAS=0.4021;AF=0.3212;AF_popmax=0.5015;AF_male=0.3271;AF_female=0.3137;AF_raw=0.2879;AF_afr=0.5015;AF_sas=.;AF_amr=0.1785;AF_eas=0.3709;AF_nfe=0.2129;AF_fin=0.3442;AF_asj=0.2419;AF_oth=0.25;non_topmed_AF_popmax=0.5014;non_neuro_AF_popmax=0.4956;non_cancer_AF_popmax=.;controls_AF_popmax=0.4915;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.331563;ALLELE_END GT 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152746593 rs111250109 A T 100 PASS AC=20;AF=0.0327476;AN=214;NS=2504;DP=18407;EAS_AF=0.005;AMR_AF=0.0288;AFR_AF=0.0287;EUR_AF=0.0577;SAS_AF=0.044;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon39:c.T5211A:p.D1737E,SYNE1:NM_182961:exon39:c.T5190A:p.D1730E;1000g2015aug_all=0.0327476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111250109;CLNALLELEID=135892;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.737;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=N;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_converted_rankscore=0.307;FATHMM_pred=T;PROVEAN_score=-0.19;PROVEAN_converted_rankscore=0.100;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.003;MetaSVM_score=-0.974;MetaSVM_rankscore=0.365;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.024;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.505;CADD_raw_rankscore=0.055;CADD_phred=0.213;DANN_score=0.807;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.085;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.468;Eigen-PC-raw=-1.394;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.134;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-6.32;GERP++_RS_rankscore=0.018;phyloP100way_vertebrate=-2.224;phyloP100way_vertebrate_rankscore=0.013;phyloP20way_mammalian=-0.237;phyloP20way_mammalian_rankscore=0.093;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.605;SiPhy_29way_logOdds_rankscore=0.165;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0516;ExAC_nontcga_ALL=0.0430;ExAC_nontcga_AFR=0.0364;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0496;ExAC_nontcga_NFE=0.0546;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0385;AF=0.0482;AF_popmax=0.0619;AF_male=0.0469;AF_female=0.0498;AF_raw=0.0484;AF_afr=0.0331;AF_sas=.;AF_amr=0.0259;AF_eas=0.0019;AF_nfe=0.0619;AF_fin=0.0492;AF_asj=0.0759;AF_oth=0.0487;non_topmed_AF_popmax=0.0685;non_neuro_AF_popmax=0.0628;non_cancer_AF_popmax=.;controls_AF_popmax=0.0832;Kaviar_AF=0.0433436;Kaviar_AC=6701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.236413;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152749373 rs199797561 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.C4964T:p.T1655M,SYNE1:NM_182961:exon37:c.C4943T:p.T1648M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199797561;CLNALLELEID=267920;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.12;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_rankscore=0.260;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.964;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.81;MutationAssessor_score_rankscore=0.209;MutationAssessor_pred=L;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.564;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.081;MetaSVM_score=-1.020;MetaSVM_rankscore=0.236;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_rankscore=0.111;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.328;M-CAP_pred=T;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.031;CADD_raw_rankscore=0.193;CADD_phred=10.84;DANN_score=0.767;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.048;fathmm-MKL_coding_rankscore=0.105;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.928;Eigen-PC-raw=-0.941;GenoCanyon_score=0.948;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.556;integrated_fitCons_score_rankscore=0.300;integrated_confidence_value=0;GERP++_RS=-0.836;GERP++_RS_rankscore=0.102;phyloP100way_vertebrate=-0.474;phyloP100way_vertebrate_rankscore=0.066;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.393;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=2.236;SiPhy_29way_logOdds_rankscore=0.037;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.097e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.579704;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152749380 rs547680915 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19347;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.A4957C:p.R1653R,SYNE1:NM_182961:exon37:c.A4936C:p.R1646R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547680915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.421e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.579704;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152749494 rs138617999 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17304;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.G4843A:p.A1615T,SYNE1:NM_182961:exon37:c.G4822A:p.A1608T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138617999;CLNALLELEID=194179;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.704;SIFT_converted_rankscore=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.562;LRT_converted_rankscore=0.113;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-1.52;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=0.77;FATHMM_converted_rankscore=0.496;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_converted_rankscore=0.036;PROVEAN_pred=N;VEST3_score=0.039;VEST3_rankscore=0.026;MetaSVM_score=-0.975;MetaSVM_rankscore=0.362;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.027;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.206;M-CAP_pred=T;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.742;CADD_raw_rankscore=0.043;CADD_phred=0.058;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.037;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.691;Eigen-PC-raw=-1.595;GenoCanyon_score=0.927;GenoCanyon_score_rankscore=0.269;integrated_fitCons_score=0.556;integrated_fitCons_score_rankscore=0.300;integrated_confidence_value=0;GERP++_RS=-1.26;GERP++_RS_rankscore=0.088;phyloP100way_vertebrate=0.319;phyloP100way_vertebrate_rankscore=0.191;phyloP20way_mammalian=-0.273;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.212;phastCons100way_vertebrate_rankscore=0.242;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=1.099;SiPhy_29way_logOdds_rankscore=0.016;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.734166;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152749540 rs142900784 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=17591;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142900784;CLNALLELEID=274077;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0052;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0109;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0013;AF=0.0070;AF_popmax=0.0095;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0130;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.816710;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751286 rs201761581 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon36:c.T4770A:p.S1590S,SYNE1:NM_182961:exon36:c.T4749A:p.S1583S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201761581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.425e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979088;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751300 rs138691290 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon36:c.A4756G:p.I1586V,SYNE1:NM_182961:exon36:c.A4735G:p.I1579V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138691290;CLNALLELEID=560491;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.454;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.119;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=N;MutationAssessor_score=0.12;MutationAssessor_score_rankscore=0.086;MutationAssessor_pred=N;FATHMM_score=0.75;FATHMM_converted_rankscore=0.502;FATHMM_pred=T;PROVEAN_score=-0.32;PROVEAN_converted_rankscore=0.123;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.034;MetaSVM_score=-0.991;MetaSVM_rankscore=0.323;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.075;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.125;M-CAP_pred=T;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.241;CADD_raw_rankscore=0.117;CADD_phred=5.105;DANN_score=0.874;DANN_rankscore=0.167;fathmm-MKL_coding_score=0.360;fathmm-MKL_coding_rankscore=0.252;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.702;Eigen-PC-raw=-0.490;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.054;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.190;phyloP100way_vertebrate_rankscore=0.167;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=0.112;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=8.574;SiPhy_29way_logOdds_rankscore=0.326;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.489e-05;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.489e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.967288;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751367 rs370905828 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16021;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370905828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0022;AF_popmax=0.0042;AF_male=0.0019;AF_female=0.0026;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.327224;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751398 rs377417141;rs373546290 CA C 100 PASS AC=5;AF=0.028754;AN=214;NS=2504;DP=16500;EAS_AF=0.0089;AMR_AF=0.0893;AFR_AF=0.0113;EUR_AF=0.0328;SAS_AF=0.0256;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373546290;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0266;AF_popmax=0.0891;AF_male=0.0252;AF_female=0.0284;AF_raw=0.0255;AF_afr=0.0072;AF_sas=.;AF_amr=0.0891;AF_eas=0;AF_nfe=0.0299;AF_fin=0.0757;AF_asj=0.0231;AF_oth=0.0318;non_topmed_AF_popmax=0.0926;non_neuro_AF_popmax=0.0683;non_cancer_AF_popmax=.;controls_AF_popmax=0.0765;Kaviar_AF=0.0016429;Kaviar_AC=254;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.496761;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152751426 rs554608 A C 100 PASS AC=60;AF=0.252196;AN=214;NS=2504;DP=17132;EAS_AF=0.376;AMR_AF=0.1599;AFR_AF=0.1823;EUR_AF=0.2097;SAS_AF=0.3282;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252196;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2084;AF_popmax=0.3911;AF_male=0.2102;AF_female=0.2061;AF_raw=0.2087;AF_afr=0.1786;AF_sas=.;AF_amr=0.1960;AF_eas=0.3911;AF_nfe=0.2179;AF_fin=0.1548;AF_asj=0.2517;AF_oth=0.2201;non_topmed_AF_popmax=0.3930;non_neuro_AF_popmax=0.3911;non_cancer_AF_popmax=.;controls_AF_popmax=0.3637;Kaviar_AF=0.0439322;Kaviar_AC=6792;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152751558 rs553642 C T 100 PASS AC=102;AF=0.595847;AN=214;NS=2504;DP=20221;EAS_AF=0.745;AMR_AF=0.3444;AFR_AF=0.7988;EUR_AF=0.4175;SAS_AF=0.5297;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.595847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5174;AF_popmax=0.7671;AF_male=0.5259;AF_female=0.5067;AF_raw=0.5170;AF_afr=0.7487;AF_sas=.;AF_amr=0.3369;AF_eas=0.7671;AF_nfe=0.4123;AF_fin=0.3686;AF_asj=0.4655;AF_oth=0.4245;non_topmed_AF_popmax=0.7704;non_neuro_AF_popmax=0.7671;non_cancer_AF_popmax=.;controls_AF_popmax=0.7604;Kaviar_AF=0.0859303;Kaviar_AC=13285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152757122 rs201084623 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16415;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon33:c.T4285A:p.S1429T,SYNE1:NM_182961:exon33:c.T4264A:p.S1422T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201084623;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.557;Polyphen2_HVAR_rankscore=0.589;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_converted_rankscore=0.332;LRT_pred=N;MutationTaster_score=0.545;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.42;MutationAssessor_score_rankscore=0.702;MutationAssessor_pred=M;FATHMM_score=1.32;FATHMM_converted_rankscore=0.893;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.360;PROVEAN_pred=N;VEST3_score=0.116;VEST3_rankscore=0.127;MetaSVM_score=0.063;MetaSVM_rankscore=0.835;MetaSVM_pred=D;MetaLR_score=0.532;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=0.082;M-CAP_rankscore=0.739;M-CAP_pred=D;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.694;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.995;DANN_rankscore=0.666;fathmm-MKL_coding_score=0.843;fathmm-MKL_coding_rankscore=0.431;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.149;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.104;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=2.604;phyloP100way_vertebrate_rankscore=0.457;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.397;SiPhy_29way_logOdds_rankscore=0.315;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.615424;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152757224 rs34028822 G A 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=16854;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon33:c.C4183T:p.R1395W,SYNE1:NM_182961:exon33:c.C4162T:p.R1388W;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34028822;CLNALLELEID=265543;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.857;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.355;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.6;FATHMM_converted_rankscore=0.881;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.742;PROVEAN_pred=N;VEST3_score=0.55;VEST3_rankscore=0.641;MetaSVM_score=0.464;MetaSVM_rankscore=0.900;MetaSVM_pred=D;MetaLR_score=0.685;MetaLR_rankscore=0.891;MetaLR_pred=D;M-CAP_score=0.226;M-CAP_rankscore=0.881;M-CAP_pred=D;REVEL_score=0.365;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.572;CADD_raw_rankscore=0.904;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.989;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.747;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.349;Eigen-PC-raw=0.327;GenoCanyon_score=0.067;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.04;GERP++_RS_rankscore=0.461;phyloP100way_vertebrate=2.796;phyloP100way_vertebrate_rankscore=0.473;phyloP20way_mammalian=0.045;phyloP20way_mammalian_rankscore=0.158;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=14.809;SiPhy_29way_logOdds_rankscore=0.695;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0027;AF=0.0025;AF_popmax=0.0041;AF_male=0.0026;AF_female=0.0023;AF_raw=0.0025;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698299;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152763191 rs202076757 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15957;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202076757;CLNALLELEID=368471;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0015;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.255133;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152763258 rs138705766 T C 100 PASS AC=8;AF=0.0127796;AN=214;NS=2504;DP=16360;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0.0106;EUR_AF=0.0209;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon31:c.A3981G:p.T1327T,SYNE1:NM_182961:exon31:c.A3960G:p.T1320T;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138705766;CLNALLELEID=135890;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0184;ExAC_nontcga_ALL=0.0191;ExAC_nontcga_AFR=0.0111;ExAC_nontcga_AMR=0.0114;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0227;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0213;AF=0.0213;AF_popmax=0.0274;AF_male=0.0197;AF_female=0.0233;AF_raw=0.0214;AF_afr=0.0098;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0274;AF_fin=0.0325;AF_asj=0.0521;AF_oth=0.0231;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0278;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0181304;Kaviar_AC=2803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.355319;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152763413 rs200800714 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17870;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200800714;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.452e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.660919;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152765579 rs139524103 C T 100 PASS AC=4;AF=0.00678914;AN=214;NS=2504;DP=17773;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon30:c.G3825A:p.L1275L,SYNE1:NM_182961:exon30:c.G3804A:p.L1268L;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139524103;CLNALLELEID=135887;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0038;AF=0.0075;AF_popmax=0.0127;AF_male=0.0070;AF_female=0.0081;AF_raw=0.0075;AF_afr=0.0020;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0127;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0093595;Kaviar_AC=1447;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.509282;ALLELE_END GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152768796 rs502268 T G 100 PASS AC=108;AF=0.597644;AN=214;NS=2504;DP=20506;EAS_AF=0.752;AMR_AF=0.3689;AFR_AF=0.7663;EUR_AF=0.4493;SAS_AF=0.5256;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.597644;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs502268;CLNALLELEID=252203;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4338;ExAC_nontcga_ALL=0.4858;ExAC_nontcga_AFR=0.7207;ExAC_nontcga_AMR=0.3215;ExAC_nontcga_EAS=0.7596;ExAC_nontcga_FIN=0.4162;ExAC_nontcga_NFE=0.4377;ExAC_nontcga_OTH=0.5159;ExAC_nontcga_SAS=0.5234;AF=0.5244;AF_popmax=0.7792;AF_male=0.5313;AF_female=0.5157;AF_raw=0.5243;AF_afr=0.7230;AF_sas=.;AF_amr=0.3620;AF_eas=0.7792;AF_nfe=0.4303;AF_fin=0.3964;AF_asj=0.5276;AF_oth=0.4393;non_topmed_AF_popmax=0.7816;non_neuro_AF_popmax=0.7792;non_cancer_AF_popmax=.;controls_AF_popmax=0.7757;Kaviar_AF=0.469806;Kaviar_AC=72633;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.892480;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152770645 rs17366321 G A 100 PASS AC=14;AF=0.0185703;AN=214;NS=2504;DP=16872;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0136;EUR_AF=0.0368;SAS_AF=0.0194;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17366321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0345;ExAC_nontcga_ALL=0.0284;ExAC_nontcga_AFR=0.0149;ExAC_nontcga_AMR=0.0190;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0378;ExAC_nontcga_NFE=0.0362;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0257;AF=0.0304;AF_popmax=0.0394;AF_male=0.0285;AF_female=0.0327;AF_raw=0.0304;AF_afr=0.0144;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0394;AF_fin=0.0412;AF_asj=0.0828;AF_oth=0.0322;non_topmed_AF_popmax=0.0439;non_neuro_AF_popmax=0.0395;non_cancer_AF_popmax=.;controls_AF_popmax=0.0545;Kaviar_AF=0.0277163;Kaviar_AC=4285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152771749 rs145113471 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145113471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152771789 rs200612820 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16922;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3387A:p.D1129E,SYNE1:NM_182961:exon27:c.C3366A:p.D1122E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200612820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.125;SIFT_converted_rankscore=0.273;SIFT_pred=T;Polyphen2_HDIV_score=0.049;Polyphen2_HDIV_rankscore=0.315;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.297;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_converted_rankscore=0.230;LRT_pred=N;MutationTaster_score=0.654;MutationTaster_converted_rankscore=0.305;MutationTaster_pred=N;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=1.42;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_converted_rankscore=0.189;PROVEAN_pred=N;VEST3_score=0.199;VEST3_rankscore=0.271;MetaSVM_score=-1.100;MetaSVM_rankscore=0.040;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.143;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.183;M-CAP_pred=T;REVEL_score=0.023;REVEL_rankscore=0.048;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.036;CADD_raw_rankscore=0.542;CADD_phred=23.7;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.700;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.058;Eigen-PC-raw=0.105;GenoCanyon_score=0.051;GenoCanyon_score_rankscore=0.149;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=2.651;phyloP100way_vertebrate_rankscore=0.461;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=13.183;SiPhy_29way_logOdds_rankscore=0.589;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.645753;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152771849 rs17082701 G A 100 PASS AC=26;AF=0.048722;AN=214;NS=2504;DP=16107;EAS_AF=0.003;AMR_AF=0.0389;AFR_AF=0.0688;EUR_AF=0.0746;SAS_AF=0.0491;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3327T:p.H1109H,SYNE1:NM_182961:exon27:c.C3306T:p.H1102H;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082701;CLNALLELEID=135885;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0680;ExAC_nontcga_ALL=0.0563;ExAC_nontcga_AFR=0.0770;ExAC_nontcga_AMR=0.0325;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0567;ExAC_nontcga_NFE=0.0681;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0483;AF=0.0658;AF_popmax=0.0729;AF_male=0.0648;AF_female=0.0671;AF_raw=0.0659;AF_afr=0.0694;AF_sas=.;AF_amr=0.0389;AF_eas=0.0019;AF_nfe=0.0729;AF_fin=0.0581;AF_asj=0.1103;AF_oth=0.0608;non_topmed_AF_popmax=0.0795;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0928;Kaviar_AF=0.0556655;Kaviar_AC=8606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0232952|N/A|USF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d98.977898;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152772239 rs189744630 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17450;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3150G:p.D1050E,SYNE1:NM_182961:exon26:c.T3129G:p.D1043E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189744630;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.718;LRT_converted_rankscore=0.100;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=0.8;FATHMM_converted_rankscore=0.868;FATHMM_pred=T;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.018;VEST3_rankscore=0.006;MetaSVM_score=-1.046;MetaSVM_rankscore=0.156;MetaSVM_pred=T;MetaLR_score=0.082;MetaLR_rankscore=0.324;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.296;M-CAP_pred=T;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.914;CADD_raw_rankscore=0.035;CADD_phred=0.024;DANN_score=0.714;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.648;fathmm-MKL_coding_rankscore=0.323;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.529;Eigen-PC-raw=-1.474;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.358;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-11.7;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=0.041;phyloP100way_vertebrate_rankscore=0.137;phyloP20way_mammalian=-0.297;phyloP20way_mammalian_rankscore=0.082;phastCons100way_vertebrate=0.895;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=6.175;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392797;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152772264 rs214976 A G 100 PASS AC=108;AF=0.607228;AN=214;NS=2504;DP=17297;EAS_AF=0.749;AMR_AF=0.3732;AFR_AF=0.8086;EUR_AF=0.4473;SAS_AF=0.5194;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A;1000g2015aug_all=0.607228;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214976;CLNALLELEID=135884;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.033;Polyphen2_HDIV_rankscore=0.349;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_rankscore=0.333;Polyphen2_HVAR_pred=B;LRT_score=0.325;LRT_converted_rankscore=0.142;LRT_pred=N;MutationTaster_score=0.499;MutationTaster_converted_rankscore=0.317;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.888;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_converted_rankscore=0.555;PROVEAN_pred=N;VEST3_score=0.159;VEST3_rankscore=0.334;MetaSVM_score=0.108;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.536;MetaLR_rankscore=0.828;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.274;REVEL_rankscore=0.594;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.767;CADD_raw_rankscore=0.510;CADD_phred=23.4;DANN_score=0.997;DANN_rankscore=0.804;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.852;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.132;Eigen-PC-raw=0.230;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=8.636;phyloP100way_vertebrate_rankscore=0.907;phyloP20way_mammalian=1.192;phyloP20way_mammalian_rankscore=0.910;phastCons100way_vertebrate=0.986;phastCons100way_vertebrate_rankscore=0.359;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=16.560;SiPhy_29way_logOdds_rankscore=0.843;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4295;ExAC_nontcga_ALL=0.4829;ExAC_nontcga_AFR=0.7518;ExAC_nontcga_AMR=0.3166;ExAC_nontcga_EAS=0.7567;ExAC_nontcga_FIN=0.4079;ExAC_nontcga_NFE=0.4304;ExAC_nontcga_OTH=0.5115;ExAC_nontcga_SAS=0.5198;AF=0.5257;AF_popmax=0.78;AF_male=0.5327;AF_female=0.5170;AF_raw=0.5256;AF_afr=0.7454;AF_sas=.;AF_amr=0.3605;AF_eas=0.78;AF_nfe=0.4214;AF_fin=0.3910;AF_asj=0.5280;AF_oth=0.4384;non_topmed_AF_popmax=0.7824;non_neuro_AF_popmax=0.78;non_cancer_AF_popmax=.;controls_AF_popmax=0.7769;Kaviar_AF=0.471094;Kaviar_AC=72832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.091145;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152774695 rs145050404 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18660;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145050404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.29;FATHMM_converted_rankscore=0.171;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_converted_rankscore=0.301;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.017;MetaSVM_score=-0.975;MetaSVM_rankscore=0.362;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.027;MetaLR_pred=T;M-CAP_score=0.001;M-CAP_rankscore=0.006;M-CAP_pred=T;REVEL_score=0.013;REVEL_rankscore=0.018;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.117;CADD_raw_rankscore=0.105;CADD_phred=3.790;DANN_score=0.679;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.018;fathmm-MKL_coding_rankscore=0.055;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.548;Eigen-PC-raw=-1.717;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-7.72;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=-0.281;phyloP100way_vertebrate_rankscore=0.084;phyloP20way_mammalian=-1.038;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.266;SiPhy_29way_logOdds_rankscore=0.038;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.48e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.578758;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152774917 rs214973 A G 100 PASS AC=108;AF=0.607428;AN=214;NS=2504;DP=14899;EAS_AF=0.749;AMR_AF=0.3732;AFR_AF=0.8094;EUR_AF=0.4473;SAS_AF=0.5194;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.607428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214973;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5262;AF_popmax=0.7786;AF_male=0.5334;AF_female=0.5172;AF_raw=0.5260;AF_afr=0.7460;AF_sas=.;AF_amr=0.3608;AF_eas=0.7786;AF_nfe=0.4223;AF_fin=0.3916;AF_asj=0.5310;AF_oth=0.4366;non_topmed_AF_popmax=0.7810;non_neuro_AF_popmax=0.7786;non_cancer_AF_popmax=.;controls_AF_popmax=0.7758;Kaviar_AF=0.0880648;Kaviar_AC=13615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.619559;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152776540 rs148626610 T C 100 PASS AC=6;AF=0.0061901;AN=214;NS=2504;DP=17613;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148626610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0090;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0085;AF=0.0073;AF_popmax=0.0095;AF_male=0.0070;AF_female=0.0077;AF_raw=0.0073;AF_afr=0.0025;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0104;AF_asj=0.0379;AF_oth=0.0064;non_topmed_AF_popmax=0.0084;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0106144;Kaviar_AC=1641;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152776750 rs214968 G A 100 PASS AC=53;AF=0.301518;AN=214;NS=2504;DP=19640;EAS_AF=0.3155;AMR_AF=0.2277;AFR_AF=0.4062;EUR_AF=0.2177;SAS_AF=0.2843;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214968;CLNALLELEID=252204;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2298;ExAC_nontcga_ALL=0.2594;ExAC_nontcga_AFR=0.3688;ExAC_nontcga_AMR=0.2088;ExAC_nontcga_EAS=0.3325;ExAC_nontcga_FIN=0.1870;ExAC_nontcga_NFE=0.2419;ExAC_nontcga_OTH=0.2760;ExAC_nontcga_SAS=0.2854;AF=0.2673;AF_popmax=0.3635;AF_male=0.2700;AF_female=0.2639;AF_raw=0.2675;AF_afr=0.3635;AF_sas=.;AF_amr=0.2123;AF_eas=0.3503;AF_nfe=0.2293;AF_fin=0.1808;AF_asj=0.2690;AF_oth=0.2371;non_topmed_AF_popmax=0.3638;non_neuro_AF_popmax=0.3668;non_cancer_AF_popmax=.;controls_AF_popmax=0.3633;Kaviar_AF=0.252604;Kaviar_AC=39053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.244524;ALLELE_END GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152777095 rs17082709 A C 100 PASS AC=26;AF=0.0433307;AN=214;NS=2504;DP=19393;EAS_AF=0.002;AMR_AF=0.0375;AFR_AF=0.0507;EUR_AF=0.0736;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon23:c.T2674G:p.L892V,SYNE1:NM_182961:exon23:c.T2653G:p.L885V;1000g2015aug_all=0.0433307;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082709;CLNALLELEID=135883;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.055;Polyphen2_HDIV_rankscore=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_rankscore=0.261;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_converted_rankscore=0.369;FATHMM_pred=T;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.14;VEST3_rankscore=0.163;MetaSVM_score=-1.086;MetaSVM_rankscore=0.062;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.158;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.028;REVEL_rankscore=0.066;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.696;CADD_raw_rankscore=0.160;CADD_phred=8.803;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.478;Eigen-PC-raw=-0.365;GenoCanyon_score=0.156;GenoCanyon_score_rankscore=0.175;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.49;GERP++_RS_rankscore=0.219;phyloP100way_vertebrate=2.064;phyloP100way_vertebrate_rankscore=0.408;phyloP20way_mammalian=0.157;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.958;phastCons100way_vertebrate_rankscore=0.332;phastCons20way_mammalian=0.766;phastCons20way_mammalian_rankscore=0.326;SiPhy_29way_logOdds=3.672;SiPhy_29way_logOdds_rankscore=0.078;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0679;ExAC_nontcga_ALL=0.0542;ExAC_nontcga_AFR=0.0538;ExAC_nontcga_AMR=0.0321;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0568;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0479;AF=0.0609;AF_popmax=0.0733;AF_male=0.0599;AF_female=0.0621;AF_raw=0.0611;AF_afr=0.0513;AF_sas=.;AF_amr=0.0377;AF_eas=0.0019;AF_nfe=0.0733;AF_fin=0.0579;AF_asj=0.1103;AF_oth=0.0599;non_topmed_AF_popmax=0.0799;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0938;Kaviar_AF=0.0554068;Kaviar_AC=8566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.151559;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152777200 rs150764932 A G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=19225;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150764932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0096;AF=0.0059;AF_popmax=0.0076;AF_male=0.0055;AF_female=0.0063;AF_raw=0.0059;AF_afr=0.0020;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0076;AF_fin=0.0086;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0067528;Kaviar_AC=1044;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.337826;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152777236 rs565631308 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18708;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565631308;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.539355;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152779932 rs191723029 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20001;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.G2549A:p.R850H,SYNE1:NM_182961:exon22:c.G2528A:p.R843H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191723029;CLNALLELEID=455382;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.259;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.103;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.98;MutationAssessor_score_rankscore=0.012;MutationAssessor_pred=N;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=0.03;PROVEAN_converted_rankscore=0.102;PROVEAN_pred=N;VEST3_score=0.053;VEST3_rankscore=0.080;MetaSVM_score=-0.978;MetaSVM_rankscore=0.354;MetaSVM_pred=T;MetaLR_score=0.019;MetaLR_rankscore=0.080;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.181;M-CAP_pred=T;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.805;CADD_raw_rankscore=0.278;CADD_phred=15.02;DANN_score=0.827;DANN_rankscore=0.139;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.043;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.430;Eigen-PC-raw=-1.401;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-5.98;GERP++_RS_rankscore=0.020;phyloP100way_vertebrate=0.069;phyloP100way_vertebrate_rankscore=0.143;phyloP20way_mammalian=0.057;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.015;phastCons100way_vertebrate_rankscore=0.189;phastCons20way_mammalian=0.911;phastCons20way_mammalian_rankscore=0.388;SiPhy_29way_logOdds=12.499;SiPhy_29way_logOdds_rankscore=0.551;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.54e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.639193;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152779933 rs34610829 G A 100 PASS AC=8;AF=0.0115815;AN=214;NS=2504;DP=19910;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0209;SAS_AF=0.0225;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.C2548T:p.R850C,SYNE1:NM_182961:exon22:c.C2527T:p.R843C;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34610829;CLNALLELEID=135877;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.015;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.9;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.316;Polyphen2_HVAR_rankscore=0.504;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.103;LRT_pred=N;MutationTaster_score=0.889;MutationTaster_converted_rankscore=0.382;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_converted_rankscore=0.363;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.088;VEST3_rankscore=0.266;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_rankscore=0.381;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.141;REVEL_rankscore=0.383;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.640;CADD_raw_rankscore=0.622;CADD_phred=24.5;DANN_score=0.999;DANN_rankscore=0.966;fathmm-MKL_coding_score=0.713;fathmm-MKL_coding_rankscore=0.347;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.336;Eigen-PC-raw=0.408;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=4.321;phyloP100way_vertebrate_rankscore=0.588;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.928;phastCons20way_mammalian_rankscore=0.402;SiPhy_29way_logOdds=19.408;SiPhy_29way_logOdds_rankscore=0.946;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0312;ExAC_nontcga_ALL=0.0246;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0179;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0183;ExAC_nontcga_NFE=0.0333;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0251;AF=0.0212;AF_popmax=0.0317;AF_male=0.0209;AF_female=0.0216;AF_raw=0.0213;AF_afr=0.0072;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0317;AF_fin=0.0187;AF_asj=0.0207;AF_oth=0.0295;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0321;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0252325;Kaviar_AC=3901;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.639193;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +6 152782933 rs579464 G A 100 PASS AC=108;AF=0.602436;AN=214;NS=2504;DP=16742;EAS_AF=0.747;AMR_AF=0.3775;AFR_AF=0.7927;EUR_AF=0.4443;SAS_AF=0.5184;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs579464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5223;AF_popmax=0.7786;AF_male=0.5294;AF_female=0.5134;AF_raw=0.5215;AF_afr=0.7322;AF_sas=.;AF_amr=0.3573;AF_eas=0.7786;AF_nfe=0.4223;AF_fin=0.3908;AF_asj=0.5310;AF_oth=0.4353;non_topmed_AF_popmax=0.7810;non_neuro_AF_popmax=0.7786;non_cancer_AF_popmax=.;controls_AF_popmax=0.7763;Kaviar_AF=0.0886793;Kaviar_AC=13710;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=Name\x3dTEAD4::ELF1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::ELK1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::SPIB|ENSPFM0506|ENSM00205796216|11.7642286588;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.934202;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152784054 rs7775181 G A 100 PASS AC=29;AF=0.248802;AN=214;NS=2504;DP=18662;EAS_AF=0.4286;AMR_AF=0.1124;AFR_AF=0.3041;EUR_AF=0.1511;SAS_AF=0.1861;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7775181;CLNALLELEID=252205;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1307;ExAC_nontcga_ALL=0.1648;ExAC_nontcga_AFR=0.2862;ExAC_nontcga_AMR=0.0724;ExAC_nontcga_EAS=0.4237;ExAC_nontcga_FIN=0.1639;ExAC_nontcga_NFE=0.1198;ExAC_nontcga_OTH=0.1749;ExAC_nontcga_SAS=0.1865;AF=0.1840;AF_popmax=0.4271;AF_male=0.1883;AF_female=0.1786;AF_raw=0.1842;AF_afr=0.2876;AF_sas=.;AF_amr=0.0993;AF_eas=0.4271;AF_nfe=0.1171;AF_fin=0.1520;AF_asj=0.1517;AF_oth=0.1360;non_topmed_AF_popmax=0.4286;non_neuro_AF_popmax=0.4271;non_cancer_AF_popmax=.;controls_AF_popmax=0.4441;Kaviar_AF=0.156751;Kaviar_AC=24234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.134640;ALLELE_END GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152784075 rs7776344 C T 100 PASS AC=29;AF=0.248802;AN=214;NS=2504;DP=18783;EAS_AF=0.4286;AMR_AF=0.1124;AFR_AF=0.3041;EUR_AF=0.1511;SAS_AF=0.1861;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7776344;CLNALLELEID=252206;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1305;ExAC_nontcga_ALL=0.1646;ExAC_nontcga_AFR=0.2880;ExAC_nontcga_AMR=0.0724;ExAC_nontcga_EAS=0.4225;ExAC_nontcga_FIN=0.1636;ExAC_nontcga_NFE=0.1197;ExAC_nontcga_OTH=0.1754;ExAC_nontcga_SAS=0.1861;AF=0.1840;AF_popmax=0.4267;AF_male=0.1885;AF_female=0.1784;AF_raw=0.1842;AF_afr=0.2878;AF_sas=.;AF_amr=0.0995;AF_eas=0.4267;AF_nfe=0.1170;AF_fin=0.1518;AF_asj=0.1517;AF_oth=0.1344;non_topmed_AF_popmax=0.4282;non_neuro_AF_popmax=0.4267;non_cancer_AF_popmax=.;controls_AF_popmax=0.4441;Kaviar_AF=0.156583;Kaviar_AC=24208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.081320;ALLELE_END GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152784621 rs9397509 T C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=19826;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon19:c.A1985G:p.Q662R,SYNE1:NM_182961:exon19:c.A1964G:p.Q655R;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397509;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.42;SIFT_converted_rankscore=0.632;SIFT_pred=T;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.908;Polyphen2_HVAR_rankscore=0.671;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=N;VEST3_score=0.667;VEST3_rankscore=0.697;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_rankscore=0.375;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.145;REVEL_rankscore=0.391;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.526;CADD_raw_rankscore=0.606;CADD_phred=24.3;DANN_score=0.998;DANN_rankscore=0.920;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.587;Eigen-PC-raw=0.630;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.875;phyloP100way_vertebrate_rankscore=0.855;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.007;SiPhy_29way_logOdds_rankscore=0.801;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0080;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0139;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=6.225e-05;AF=0.0068;AF_popmax=0.0094;AF_male=0.0061;AF_female=0.0075;AF_raw=0.0067;AF_afr=0.0020;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0112;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438642;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152787026 rs142467232 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18059;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142467232;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0015;AF_popmax=0.0019;AF_male=0.0011;AF_female=0.0021;AF_raw=0.0015;AF_afr=0.0012;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152793375 rs60213252 TA T 100 PASS AC=25;AF=0.195487;AN=214;NS=2504;DP=16367;EAS_AF=0.4266;AMR_AF=0.0908;AFR_AF=0.146;EUR_AF=0.1342;SAS_AF=0.1616;AA=AAAAA|AAAAA|AAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60213252;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1416;AF_popmax=0.4287;AF_male=0.1456;AF_female=0.1366;AF_raw=0.1422;AF_afr=0.1611;AF_sas=.;AF_amr=0.0889;AF_eas=0.4287;AF_nfe=0.1103;AF_fin=0.1255;AF_asj=0.1329;AF_oth=0.1160;non_topmed_AF_popmax=0.4302;non_neuro_AF_popmax=0.4287;non_cancer_AF_popmax=.;controls_AF_popmax=0.4471;Kaviar_AF=0.0216306;Kaviar_AC=563;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.279753;ALLELE_END GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152793412 rs4523096 C A 100 PASS AC=168;AF=0.855232;AN=214;NS=2504;DP=16729;EAS_AF=0.9494;AMR_AF=0.7104;AFR_AF=0.9871;EUR_AF=0.7525;SAS_AF=0.7883;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.855232;GWAS=rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744;ORegAnno_REGULATORY_P=rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744;avsnp150=rs4523096;CLNALLELEID=252207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7044;ExAC_nontcga_ALL=0.7692;ExAC_nontcga_AFR=0.9474;ExAC_nontcga_AMR=0.6864;ExAC_nontcga_EAS=0.9684;ExAC_nontcga_FIN=0.8049;ExAC_nontcga_NFE=0.7185;ExAC_nontcga_OTH=0.8020;ExAC_nontcga_SAS=0.7832;AF=0.7958;AF_popmax=0.9698;AF_male=0.7980;AF_female=0.7930;AF_raw=0.7952;AF_afr=0.9412;AF_sas=.;AF_amr=0.7116;AF_eas=0.9698;AF_nfe=0.7072;AF_fin=0.7782;AF_asj=0.7345;AF_oth=0.7731;non_topmed_AF_popmax=0.9697;non_neuro_AF_popmax=0.9698;non_cancer_AF_popmax=.;controls_AF_popmax=0.9726;Kaviar_AF=0.743684;Kaviar_AC=114975;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.411950;ALLELE_END GT 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 1|1 1|0 1|0 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 +6 152793572 rs4331993 T A 100 PASS AC=82;AF=0.483427;AN=214;NS=2504;DP=17728;EAS_AF=0.745;AMR_AF=0.3156;AFR_AF=0.4682;EUR_AF=0.3698;SAS_AF=0.4703;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.483427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4331993;CLNALLELEID=252208;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0162;ExAC_nontcga_ALL=0.3742;ExAC_nontcga_AFR=0.4136;ExAC_nontcga_AMR=0.2554;ExAC_nontcga_EAS=0.7034;ExAC_nontcga_FIN=0.3444;ExAC_nontcga_NFE=0.3395;ExAC_nontcga_OTH=0.3994;ExAC_nontcga_SAS=0.4107;AF=0.3836;AF_popmax=0.7684;AF_male=0.3896;AF_female=0.3761;AF_raw=0.3879;AF_afr=0.4383;AF_sas=.;AF_amr=0.2789;AF_eas=0.7684;AF_nfe=0.3382;AF_fin=0.3119;AF_asj=0.3957;AF_oth=0.3404;non_topmed_AF_popmax=0.7695;non_neuro_AF_popmax=0.7684;non_cancer_AF_popmax=.;controls_AF_popmax=0.7645;Kaviar_AF=0.0222377;Kaviar_AC=3438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;ALLELE_END GT 0|1 1|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152793575 rs4343926 A G 100 PASS AC=108;AF=0.602236;AN=214;NS=2504;DP=17868;EAS_AF=0.747;AMR_AF=0.3775;AFR_AF=0.7912;EUR_AF=0.4443;SAS_AF=0.5194;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4343926;CLNALLELEID=252209;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1459;ExAC_nontcga_ALL=0.4740;ExAC_nontcga_AFR=0.7319;ExAC_nontcga_AMR=0.3112;ExAC_nontcga_EAS=0.7452;ExAC_nontcga_FIN=0.4056;ExAC_nontcga_NFE=0.4261;ExAC_nontcga_OTH=0.4970;ExAC_nontcga_SAS=0.5008;AF=0.5157;AF_popmax=0.7707;AF_male=0.5234;AF_female=0.5061;AF_raw=0.5183;AF_afr=0.7284;AF_sas=.;AF_amr=0.3475;AF_eas=0.7707;AF_nfe=0.4149;AF_fin=0.3838;AF_asj=0.5143;AF_oth=0.4219;non_topmed_AF_popmax=0.7729;non_neuro_AF_popmax=0.7707;non_cancer_AF_popmax=.;controls_AF_popmax=0.7673;Kaviar_AF=0.452219;Kaviar_AC=69914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152793628 rs4530871 C T 100 PASS AC=14;AF=0.028754;AN=214;NS=2504;DP=18234;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0514;EUR_AF=0.0368;SAS_AF=0.0194;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4530871;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0400;AF_popmax=0.0479;AF_male=0.0390;AF_female=0.0413;AF_raw=0.0400;AF_afr=0.0479;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0394;AF_fin=0.0412;AF_asj=0.0828;AF_oth=0.0368;non_topmed_AF_popmax=0.0482;non_neuro_AF_popmax=0.0470;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0056726;Kaviar_AC=877;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277837;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152806014 rs146366996 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=19453;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon13:c.G1162A:p.D388N,SYNE1:NM_182961:exon13:c.G1141A:p.D381N;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146366996;CLNALLELEID=191438;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=0.47;FATHMM_converted_rankscore=0.915;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.659;PROVEAN_pred=D;VEST3_score=0.121;VEST3_rankscore=0.283;MetaSVM_score=0.619;MetaSVM_rankscore=0.921;MetaSVM_pred=D;MetaLR_score=0.840;MetaLR_rankscore=0.947;MetaLR_pred=D;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.660;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.571;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.763;Eigen-PC-raw=0.750;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=7.365;phyloP100way_vertebrate_rankscore=0.786;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.448;SiPhy_29way_logOdds_rankscore=0.948;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.174e-05;AF=0.0007;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0004;AF_raw=0.0007;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013583;Kaviar_AC=210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.568680;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152809527 rs9397106 A T 100 PASS AC=108;AF=0.589257;AN=214;NS=2504;DP=15077;EAS_AF=0.748;AMR_AF=0.3746;AFR_AF=0.7368;EUR_AF=0.4503;SAS_AF=0.5215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.589257;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397106;CLNALLELEID=135839;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=0.4328;ExAC_nontcga_ALL=0.4825;ExAC_nontcga_AFR=0.6772;ExAC_nontcga_AMR=0.3125;ExAC_nontcga_EAS=0.7563;ExAC_nontcga_FIN=0.4216;ExAC_nontcga_NFE=0.4377;ExAC_nontcga_OTH=0.5190;ExAC_nontcga_SAS=0.5287;AF=0.5091;AF_popmax=0.7751;AF_male=0.5139;AF_female=0.5032;AF_raw=0.5089;AF_afr=0.6716;AF_sas=.;AF_amr=0.3587;AF_eas=0.7751;AF_nfe=0.4266;AF_fin=0.4053;AF_asj=0.5241;AF_oth=0.4429;non_topmed_AF_popmax=0.7774;non_neuro_AF_popmax=0.7751;non_cancer_AF_popmax=.;controls_AF_popmax=0.7703;Kaviar_AF=0.465628;Kaviar_AC=71987;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927068;ALLELE_END GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152809540 rs144105769 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15028;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon12:c.T1059C:p.D353D,SYNE1:NM_182961:exon12:c.T1038C:p.D346D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144105769;CLNALLELEID=268918;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.161e-05;AF=0.0007;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0005;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.211953;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152809699 rs542002335 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15642;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542002335;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.553e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.628973;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152826456 rs146053885 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17512;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon9:c.A679G:p.I227V,SYNE1:NM_182961:exon9:c.A658G:p.I220V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146053885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.555;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.453;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.455;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.431;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.57;MutationAssessor_score_rankscore=0.397;MutationAssessor_pred=L;FATHMM_score=-3.65;FATHMM_converted_rankscore=0.952;FATHMM_pred=D;PROVEAN_score=-0.64;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.39;VEST3_rankscore=0.540;MetaSVM_score=0.331;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.055;M-CAP_rankscore=0.664;M-CAP_pred=D;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.348;CADD_raw_rankscore=0.461;CADD_phred=22.9;DANN_score=0.993;DANN_rankscore=0.569;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.692;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.104;Eigen-PC-raw=0.040;GenoCanyon_score=0.605;GenoCanyon_score_rankscore=0.217;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=5.084;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.047;phyloP20way_mammalian_rankscore=0.674;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.979;phastCons20way_mammalian_rankscore=0.486;SiPhy_29way_logOdds=16.096;SiPhy_29way_logOdds_rankscore=0.808;Interpro_domain=Calponin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.428e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392559;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152831295 rs201029283 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18149;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201029283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.372e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.881290;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152832851 rs191229374 T C 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17928;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191229374;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0084;AF_popmax=0.0115;AF_male=0.0082;AF_female=0.0087;AF_raw=0.0084;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0161;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.308234;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152847284 rs139156106 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=18345;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon4:c.T156C:p.D52D,SYNE1:NM_182961:exon5:c.T156C:p.D52D;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139156106;CLNALLELEID=252211;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0124;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0084;AF_popmax=0.0115;AF_male=0.0082;AF_female=0.0087;AF_raw=0.0085;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0161;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.280894;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152847335 rs2141152 G A 100 PASS AC=74;AF=0.264177;AN=214;NS=2504;DP=18058;EAS_AF=0.4395;AMR_AF=0.1888;AFR_AF=0.1157;EUR_AF=0.3757;SAS_AF=0.2229;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2141152;CLNALLELEID=252212;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3233;ExAC_nontcga_ALL=0.2928;ExAC_nontcga_AFR=0.1274;ExAC_nontcga_AMR=0.1364;ExAC_nontcga_EAS=0.4461;ExAC_nontcga_FIN=0.4755;ExAC_nontcga_NFE=0.3238;ExAC_nontcga_OTH=0.3490;ExAC_nontcga_SAS=0.2388;AF=0.2897;AF_popmax=0.4457;AF_male=0.2876;AF_female=0.2922;AF_raw=0.2894;AF_afr=0.1285;AF_sas=.;AF_amr=0.1836;AF_eas=0.4457;AF_nfe=0.3310;AF_fin=0.4505;AF_asj=0.2724;AF_oth=0.3438;non_topmed_AF_popmax=0.4476;non_neuro_AF_popmax=0.4457;non_cancer_AF_popmax=.;controls_AF_popmax=0.4582;Kaviar_AF=0.288366;Kaviar_AC=44582;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 0|1 0|0 0|1 1|1 1|0 0|0 0|0 0|1 1|1 0|1 1|1 0|0 0|0 1|0 1|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 +7 35271037 rs113221975 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=18933;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113221975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0077;AF_popmax=0.0189;AF_male=0.0067;AF_female=0.0090;AF_raw=0.0078;AF_afr=0.0015;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0239;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0198;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001123772|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.923844;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35271254 rs2075047 T C 100 PASS AC=45;AF=0.0888578;AN=214;NS=2504;DP=23680;EAS_AF=0.0625;AMR_AF=0.1282;AFR_AF=0.0794;EUR_AF=0.1511;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0888578;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2075047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1782;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1209;AF_popmax=0.1493;AF_male=0.1219;AF_female=0.1197;AF_raw=0.1211;AF_afr=0.0921;AF_sas=.;AF_amr=0.1026;AF_eas=0.0959;AF_nfe=0.1493;AF_fin=0.0653;AF_asj=0.3056;AF_oth=0.1287;non_topmed_AF_popmax=0.1436;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1138;Kaviar_AF=0.0265132;Kaviar_AC=4099;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.624939;ALLELE_END GT 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 +7 35280480 rs536449636 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20885;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536449636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.524e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.861e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.198201;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35280539 rs6950175 G T 100 PASS AC=1;AF=0.0305511;AN=214;NS=2504;DP=20824;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.1021;EUR_AF=0.001;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon5:c.C765A:p.I255I,TBX20:NM_001166220:exon5:c.C765A:p.I255I;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6950175;CLNALLELEID=509889;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0877;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0133;AF=0.0248;AF_popmax=0.0866;AF_male=0.0264;AF_female=0.0229;AF_raw=0.0249;AF_afr=0.0866;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0862;non_neuro_AF_popmax=0.0901;non_cancer_AF_popmax=.;controls_AF_popmax=0.0921;Kaviar_AF=0.0093789;Kaviar_AC=1450;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.941169;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35280693 rs2072434 C T 100 PASS AC=85;AF=0.34365;AN=214;NS=2504;DP=20004;EAS_AF=0.2897;AMR_AF=0.4352;AFR_AF=0.2738;EUR_AF=0.3797;SAS_AF=0.3916;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3906;ExAC_nontcga_ALL=0.3824;ExAC_nontcga_AFR=0.2860;ExAC_nontcga_AMR=0.5530;ExAC_nontcga_EAS=0.2474;ExAC_nontcga_FIN=0.4065;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.3810;ExAC_nontcga_SAS=0.3766;AF=0.3582;AF_popmax=0.4976;AF_male=0.3589;AF_female=0.3573;AF_raw=0.3580;AF_afr=0.2869;AF_sas=.;AF_amr=0.4976;AF_eas=0.2426;AF_nfe=0.3900;AF_fin=0.4116;AF_asj=0.3759;AF_oth=0.3591;non_topmed_AF_popmax=0.5012;non_neuro_AF_popmax=0.4657;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.371004;Kaviar_AC=57358;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.361742::-0.20722;Heart_Left_Ventricle=Heart_Left_Ventricle::0.352941::-0.177372;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732609;ALLELE_END GT 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 1|1 1|0 +7 35288276 rs17675148 T C 100 PASS AC=85;AF=0.34365;AN=214;NS=2504;DP=16787;EAS_AF=0.2897;AMR_AF=0.4352;AFR_AF=0.2746;EUR_AF=0.3797;SAS_AF=0.3906;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17675148;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3907;ExAC_nontcga_ALL=0.3819;ExAC_nontcga_AFR=0.2870;ExAC_nontcga_AMR=0.5531;ExAC_nontcga_EAS=0.2467;ExAC_nontcga_FIN=0.4056;ExAC_nontcga_NFE=0.3810;ExAC_nontcga_OTH=0.3818;ExAC_nontcga_SAS=0.3748;AF=0.3580;AF_popmax=0.4976;AF_male=0.3583;AF_female=0.3575;AF_raw=0.3580;AF_afr=0.2866;AF_sas=.;AF_amr=0.4976;AF_eas=0.2422;AF_nfe=0.3898;AF_fin=0.4110;AF_asj=0.3759;AF_oth=0.3583;non_topmed_AF_popmax=0.5012;non_neuro_AF_popmax=0.4657;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.378514;Kaviar_AC=58519;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.361742::-0.20722;Heart_Left_Ventricle=Heart_Left_Ventricle::0.352941::-0.177372;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1893137|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.448200;ALLELE_END GT 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 1|1 1|0 +7 35293158 rs199991861 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16589;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.C74G:p.S25W,TBX20:NM_001166220:exon1:c.C74G:p.S25W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199991861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.515;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.55;Polyphen2_HVAR_rankscore=0.474;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-2.53;PROVEAN_converted_rankscore=0.548;PROVEAN_pred=D;VEST3_score=0.634;VEST3_rankscore=0.652;MetaSVM_score=0.327;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.602;MetaLR_rankscore=0.858;MetaLR_pred=D;M-CAP_score=0.199;M-CAP_rankscore=0.867;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.806;CADD_raw_rankscore=0.925;CADD_phred=32;DANN_score=0.988;DANN_rankscore=0.465;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.514;Eigen-PC-raw=0.577;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=9.606;phyloP100way_vertebrate_rankscore=0.978;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=18.657;SiPhy_29way_logOdds_rankscore=0.914;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.821e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.901e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961275;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35293193 rs336283 A G 100 PASS AC=154;AF=0.69389;AN=214;NS=2504;DP=16836;EAS_AF=0.5893;AMR_AF=0.6816;AFR_AF=0.8797;EUR_AF=0.6789;SAS_AF=0.5746;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S;1000g2015aug_all=0.69389;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs336283;CLNALLELEID=508825;CLNDN=Atrial_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969657,OMIM:611363|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6892;ExAC_nontcga_ALL=0.6750;ExAC_nontcga_AFR=0.8589;ExAC_nontcga_AMR=0.7116;ExAC_nontcga_EAS=0.5618;ExAC_nontcga_FIN=0.6532;ExAC_nontcga_NFE=0.6793;ExAC_nontcga_OTH=0.6906;ExAC_nontcga_SAS=0.5963;AF=0.7198;AF_popmax=0.8607;AF_male=0.7236;AF_female=0.7150;AF_raw=0.7190;AF_afr=0.8607;AF_sas=.;AF_amr=0.7205;AF_eas=0.5589;AF_nfe=0.6737;AF_fin=0.6592;AF_asj=0.7690;AF_oth=0.6556;non_topmed_AF_popmax=0.8604;non_neuro_AF_popmax=0.8524;non_cancer_AF_popmax=.;controls_AF_popmax=0.8527;Kaviar_AF=0.674991;Kaviar_AC=104355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961100;ALLELE_END GT 1|1 0|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 1|1 1|0 1|1 0|0 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 +7 35293222 rs147393830 T A 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=16370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.A10T:p.T4S,TBX20:NM_001166220:exon1:c.A10T:p.T4S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147393830;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.06;SIFT_converted_rankscore=0.373;SIFT_pred=T;Polyphen2_HDIV_score=0.882;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.332;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-2.32;FATHMM_converted_rankscore=0.878;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.517;VEST3_rankscore=0.559;MetaSVM_score=-0.136;MetaSVM_rankscore=0.793;MetaSVM_pred=T;MetaLR_score=0.456;MetaLR_rankscore=0.788;MetaLR_pred=T;M-CAP_score=0.120;M-CAP_rankscore=0.801;M-CAP_pred=D;REVEL_score=0.395;REVEL_rankscore=0.713;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.411;CADD_raw_rankscore=0.351;CADD_phred=18.89;DANN_score=0.992;DANN_rankscore=0.560;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.793;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.223;Eigen-PC-raw=0.305;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.623;integrated_fitCons_score_rankscore=0.393;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=5.862;phyloP100way_vertebrate_rankscore=0.691;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.517;SiPhy_29way_logOdds_rankscore=0.673;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.962050;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81579832 rs367960608 T TA 100 PASS AC=21;AF=0.0621006;AN=214;NS=2504;DP=21078;EAS_AF=0.0169;AMR_AF=0.1138;AFR_AF=0.0545;EUR_AF=0.0855;SAS_AF=0.0583;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367960608;CLNALLELEID=212615;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0808;ExAC_nontcga_ALL=0.0956;ExAC_nontcga_AFR=0.0771;ExAC_nontcga_AMR=0.1774;ExAC_nontcga_EAS=0.0235;ExAC_nontcga_FIN=0.0815;ExAC_nontcga_NFE=0.1015;ExAC_nontcga_OTH=0.0699;ExAC_nontcga_SAS=0.0815;AF=0.0784;AF_popmax=0.1398;AF_male=0.0753;AF_female=0.0822;AF_raw=0.0738;AF_afr=0.0683;AF_sas=.;AF_amr=0.1398;AF_eas=0.0204;AF_nfe=0.0861;AF_fin=0.0861;AF_asj=0.0236;AF_oth=0.0936;non_topmed_AF_popmax=0.1455;non_neuro_AF_popmax=0.1234;non_cancer_AF_popmax=.;controls_AF_popmax=0.1420;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 +7 81588636 rs1229502 G A 100 PASS AC=64;AF=0.222644;AN=214;NS=2504;DP=18274;EAS_AF=0.2371;AMR_AF=0.255;AFR_AF=0.1127;EUR_AF=0.3042;SAS_AF=0.2495;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon38:c.C3114T:p.P1038P;1000g2015aug_all=0.222644;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229502;CLNALLELEID=252942;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3153;ExAC_nontcga_ALL=0.2863;ExAC_nontcga_AFR=0.1375;ExAC_nontcga_AMR=0.3434;ExAC_nontcga_EAS=0.2479;ExAC_nontcga_FIN=0.2776;ExAC_nontcga_NFE=0.3051;ExAC_nontcga_OTH=0.2673;ExAC_nontcga_SAS=0.2901;AF=0.2523;AF_popmax=0.3060;AF_male=0.2505;AF_female=0.2547;AF_raw=0.2524;AF_afr=0.1363;AF_sas=.;AF_amr=0.2981;AF_eas=0.2186;AF_nfe=0.3060;AF_fin=0.2921;AF_asj=0.3310;AF_oth=0.2858;non_topmed_AF_popmax=0.3040;non_neuro_AF_popmax=0.3072;non_cancer_AF_popmax=.;controls_AF_popmax=0.2963;Kaviar_AF=0.282655;Kaviar_AC=43699;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.944438;ALLELE_END GT 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +7 81588738 rs558103164 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18842;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558103164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=5.733e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81591114 rs72063149 GTAATGATTATAACAGTATATACAATTTCT G 100 PASS AC=145;AF=0.698682;AN=214;NS=2504;DP=12189;EAS_AF=0.7232;AMR_AF=0.6657;AFR_AF=0.7337;EUR_AF=0.6988;SAS_AF=0.6493;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.698682;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35112512;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7183;AF_popmax=0.7624;AF_male=0.7237;AF_female=0.7115;AF_raw=0.7190;AF_afr=0.7624;AF_sas=.;AF_amr=0.7124;AF_eas=0.7450;AF_nfe=0.6894;AF_fin=0.7323;AF_asj=0.6143;AF_oth=0.7243;non_topmed_AF_popmax=0.7612;non_neuro_AF_popmax=0.7471;non_cancer_AF_popmax=.;controls_AF_popmax=0.7562;Kaviar_AF=0.0422622;Kaviar_AC=1100;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 +7 81591409 rs146923887 G A 100 PASS AC=8;AF=0.00778754;AN=214;NS=2504;DP=15149;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0112;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146923887;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0147;AF_popmax=0.0228;AF_male=0.0148;AF_female=0.0146;AF_raw=0.0147;AF_afr=0.0045;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0060;AF_asj=0.0586;AF_oth=0.0175;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0222;Kaviar_AF=0.0038486;Kaviar_AC=595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81591716 rs1229503 T G 100 PASS AC=66;AF=0.230232;AN=214;NS=2504;DP=15107;EAS_AF=0.2401;AMR_AF=0.2695;AFR_AF=0.1293;EUR_AF=0.3022;SAS_AF=0.2546;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229503;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3168;ExAC_nontcga_ALL=0.3286;ExAC_nontcga_AFR=0.1689;ExAC_nontcga_AMR=0.4143;ExAC_nontcga_EAS=0.3024;ExAC_nontcga_FIN=0.3026;ExAC_nontcga_NFE=0.3534;ExAC_nontcga_OTH=0.3047;ExAC_nontcga_SAS=0.3136;AF=0.2558;AF_popmax=0.3046;AF_male=0.2546;AF_female=0.2574;AF_raw=0.2560;AF_afr=0.1531;AF_sas=.;AF_amr=0.3038;AF_eas=0.2255;AF_nfe=0.3046;AF_fin=0.2825;AF_asj=0.3438;AF_oth=0.2849;non_topmed_AF_popmax=0.3005;non_neuro_AF_popmax=0.3056;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.271678;Kaviar_AC=42002;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +7 81591827 rs554617855 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554617855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.008e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.198e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81593454 rs3735517 G A 100 PASS AC=56;AF=0.257987;AN=214;NS=2504;DP=16263;EAS_AF=0.1994;AMR_AF=0.2277;AFR_AF=0.351;EUR_AF=0.2316;SAS_AF=0.2413;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3735517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2076;ExAC_nontcga_ALL=0.2194;ExAC_nontcga_AFR=0.3534;ExAC_nontcga_AMR=0.1959;ExAC_nontcga_EAS=0.1851;ExAC_nontcga_FIN=0.2050;ExAC_nontcga_NFE=0.2097;ExAC_nontcga_OTH=0.1928;ExAC_nontcga_SAS=0.2201;AF=0.2441;AF_popmax=0.3509;AF_male=0.2498;AF_female=0.2370;AF_raw=0.2440;AF_afr=0.3509;AF_sas=.;AF_amr=0.2026;AF_eas=0.1795;AF_nfe=0.1989;AF_fin=0.2229;AF_asj=0.2241;AF_oth=0.2270;non_topmed_AF_popmax=0.3511;non_neuro_AF_popmax=0.3438;non_cancer_AF_popmax=.;controls_AF_popmax=0.3549;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3735517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2076;ExAC_nontcga_ALL=0.2194;ExAC_nontcga_AFR=0.3534;ExAC_nontcga_AMR=0.1959;ExAC_nontcga_EAS=0.1851;ExAC_nontcga_FIN=0.2050;ExAC_nontcga_NFE=0.2097;ExAC_nontcga_OTH=0.1928;ExAC_nontcga_SAS=0.2201;AF=0.2441;AF_popmax=0.3509;AF_male=0.2498;AF_female=0.2370;AF_raw=0.2440;AF_afr=0.3509;AF_sas=.;AF_amr=0.2026;AF_eas=0.1795;AF_nfe=0.1989;AF_fin=0.2229;AF_asj=0.2241;AF_oth=0.2270;non_topmed_AF_popmax=0.3511;non_neuro_AF_popmax=0.3438;non_cancer_AF_popmax=.;controls_AF_popmax=0.3549;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 +7 81593508 rs200274400 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200274400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.475e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200274400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.475e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81594860 rs202062464 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17422;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202062464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.096e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=3.19e-05;AF_popmax=0.0001;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.329747;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81596639 rs575257851 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81598129 rs150919520 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81599131 rs572099544 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=15323;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572099544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.523e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81600168 rs566275476 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17590;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566275476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81601231 rs1229505 C G 100 PASS AC=74;AF=0.236422;AN=214;NS=2504;DP=13233;EAS_AF=0.2222;AMR_AF=0.3184;AFR_AF=0.0946;EUR_AF=0.3519;SAS_AF=0.2658;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.236422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229505;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3844;ExAC_nontcga_ALL=0.3296;ExAC_nontcga_AFR=0.1417;ExAC_nontcga_AMR=0.3810;ExAC_nontcga_EAS=0.2354;ExAC_nontcga_FIN=0.2815;ExAC_nontcga_NFE=0.3720;ExAC_nontcga_OTH=0.2953;ExAC_nontcga_SAS=0.3178;AF=0.2906;AF_popmax=0.3748;AF_male=0.2872;AF_female=0.2949;AF_raw=0.2906;AF_afr=0.1417;AF_sas=.;AF_amr=0.3434;AF_eas=0.22;AF_nfe=0.3748;AF_fin=0.2980;AF_asj=0.3897;AF_oth=0.3048;non_topmed_AF_popmax=0.3689;non_neuro_AF_popmax=0.3755;non_cancer_AF_popmax=.;controls_AF_popmax=0.3573;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|1 1|0 0|1 0|0 1|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 +7 81603871 rs141806359 G GAA 100 PASS AC=28;AF=0.096845;AN=214;NS=2504;DP=15478;EAS_AF=0.1151;AMR_AF=0.1182;AFR_AF=0.1044;EUR_AF=0.0905;SAS_AF=0.0593;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.096845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141806359;CLNALLELEID=212616;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0922;ExAC_nontcga_ALL=0.1067;ExAC_nontcga_AFR=0.1064;ExAC_nontcga_AMR=0.1515;ExAC_nontcga_EAS=0.1446;ExAC_nontcga_FIN=0.0482;ExAC_nontcga_NFE=0.1174;ExAC_nontcga_OTH=0.1273;ExAC_nontcga_SAS=0.0678;AF=0.0885;AF_popmax=0.1255;AF_male=0.0909;AF_female=0.0855;AF_raw=0.0834;AF_afr=0.1000;AF_sas=.;AF_amr=0.1107;AF_eas=0.1255;AF_nfe=0.0833;AF_fin=0.0484;AF_asj=0.1036;AF_oth=0.0906;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1255;non_cancer_AF_popmax=.;controls_AF_popmax=0.1294;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.591094;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 +7 81603945 rs66590028 AT A 100 PASS AC=154;AF=0.678514;AN=214;NS=2504;DP=15073;EAS_AF=0.7153;AMR_AF=0.7075;AFR_AF=0.6278;EUR_AF=0.7207;SAS_AF=0.6452;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.678514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61006565;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7110;AF_popmax=0.7529;AF_male=0.7125;AF_female=0.7091;AF_raw=0.7026;AF_afr=0.6784;AF_sas=.;AF_amr=0.7076;AF_eas=0.7529;AF_nfe=0.7292;AF_fin=0.7012;AF_asj=0.6667;AF_oth=0.7027;non_topmed_AF_popmax=0.7534;non_neuro_AF_popmax=0.7529;non_cancer_AF_popmax=.;controls_AF_popmax=0.7583;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 +7 81612766 rs549858792 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549858792;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.126500;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81634681 rs536648686 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15564;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536648686;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.103635;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81634822 rs201578104;rs576139922 GA AA,G 100 PASS AC=51,36;AF=0.219848,0.20028;AN=214;NS=2504;DP=16850;EAS_AF=0.1806,0.2361;AMR_AF=0.1729,0.2176;AFR_AF=0.2511,0.177;EUR_AF=0.1909,0.2127;SAS_AF=0.2812,0.1697;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.219848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201578104;CLNALLELEID=502511;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1607;ExAC_nontcga_AFR=0.1495;ExAC_nontcga_AMR=0.2246;ExAC_nontcga_EAS=0.1965;ExAC_nontcga_FIN=0.2098;ExAC_nontcga_NFE=0.1529;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.1458;AF=0.0632;AF_popmax=0.0627;AF_male=0.0634;AF_female=0.0630;AF_raw=0.0501;AF_afr=0.0330;AF_sas=.;AF_amr=0.0586;AF_eas=0.0215;AF_nfe=0.0627;AF_fin=0.2596;AF_asj=0.0234;AF_oth=0.0900;non_topmed_AF_popmax=0.0768;non_neuro_AF_popmax=0.0614;non_cancer_AF_popmax=.;controls_AF_popmax=0.1427;Kaviar_AF=0.0077037;Kaviar_AC=1191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.838848;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.20028;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576139922;CLNALLELEID=396450;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2827;ExAC_nontcga_AFR=0.2416;ExAC_nontcga_AMR=0.2178;ExAC_nontcga_EAS=0.2428;ExAC_nontcga_FIN=0.2122;ExAC_nontcga_NFE=0.2788;ExAC_nontcga_OTH=0.2661;ExAC_nontcga_SAS=0.3306;AF=0.0547;AF_popmax=0.0759;AF_male=0.0555;AF_female=0.0536;AF_raw=0.0364;AF_afr=0.0588;AF_sas=.;AF_amr=0.0759;AF_eas=0.0013;AF_nfe=0.0488;AF_fin=0.1129;AF_asj=0.0625;AF_oth=0.0687;non_topmed_AF_popmax=0.0752;non_neuro_AF_popmax=0.0550;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.838848;ALLELE_END GT 0|1 0|1 0|1 0|2 1|0 1|0 0|2 0|1 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 2|0 1|0 1|0 0|1 1|0 0|0 2|0 1|0 0|2 0|1 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|0 0|0 2|0 0|1 1|0 0|0 0|0 0|2 0|0 2|0 0|2 0|1 0|2 0|2 1|0 2|0 0|2 1|0 2|0 0|2 2|0 0|1 1|0 1|0 0|1 1|0 0|1 2|0 1|0 2|0 0|1 1|0 2|0 0|2 0|0 0|1 2|0 0|1 0|2 2|0 1|0 0|2 0|1 0|0 0|0 0|0 0|1 0|0 2|0 2|0 2|0 1|0 0|0 2|0 0|0 0|0 0|0 2|0 2|0 0|0 2|0 2|0 0|2 1|0 0|2 1|0 1|0 2|0 1|0 0|2 0|1 +7 81635221 rs143088765 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17426;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143088765;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81635245 rs2302384 T C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=17645;EAS_AF=0.0159;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0096;AF_male=0.0044;AF_female=0.0067;AF_raw=0.0054;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0.0096;AF_nfe=0.0051;AF_fin=0.0150;AF_asj=0.0034;AF_oth=0.0166;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0006792;Kaviar_AC=105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81641500 rs73151504 G A 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=3831;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon15:c.C1332T:p.V444V;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73151504;CLNALLELEID=240182;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0176;ExAC_nontcga_NFE=0.0127;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0045;AF=0.0095;AF_popmax=0.0133;AF_male=0.0087;AF_female=0.0105;AF_raw=0.0095;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0172;AF_asj=0.0034;AF_oth=0.0130;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0193;Kaviar_AF=0.0084863;Kaviar_AC=1312;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.363203;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81641570 rs72239441 G GAA,GAAA,GAAAA 100 PASS AC=1,19,49;AF=0.0091853,0.115615,0.221046;AN=214;NS=2504;DP=15106;EAS_AF=0.002,0.1121,0.255;AMR_AF=0.0101,0.1311,0.2161;AFR_AF=0.0219,0.171,0.2224;EUR_AF=0.004,0.0636,0.1968;SAS_AF=0.0041,0.0869,0.2127;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72239441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0313;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0157;ExAC_nontcga_OTH=0.0194;ExAC_nontcga_SAS=0.0126;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.115615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4019047;CLNALLELEID=501832;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1060;ExAC_nontcga_AFR=0.1720;ExAC_nontcga_AMR=0.1262;ExAC_nontcga_EAS=0.1397;ExAC_nontcga_FIN=0.0946;ExAC_nontcga_NFE=0.0963;ExAC_nontcga_OTH=0.1;ExAC_nontcga_SAS=0.0796;AF=0.0349;AF_popmax=0.0957;AF_male=0.0372;AF_female=0.0318;AF_raw=0.0281;AF_afr=0.0957;AF_sas=.;AF_amr=0.0084;AF_eas=0.0150;AF_nfe=0.0042;AF_fin=0.0092;AF_asj=0.0042;AF_oth=0.0149;non_topmed_AF_popmax=0.0958;non_neuro_AF_popmax=0.0895;non_cancer_AF_popmax=.;controls_AF_popmax=0.0914;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4019047;CLNALLELEID=502207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1260;ExAC_nontcga_AFR=0.1351;ExAC_nontcga_AMR=0.1389;ExAC_nontcga_EAS=0.1206;ExAC_nontcga_FIN=0.0888;ExAC_nontcga_NFE=0.1138;ExAC_nontcga_OTH=0.1452;ExAC_nontcga_SAS=0.1673;AF=0.2660;AF_popmax=0.3386;AF_male=0.2702;AF_female=0.2605;AF_raw=0.2157;AF_afr=0.2902;AF_sas=.;AF_amr=0.3143;AF_eas=0.3386;AF_nfe=0.2423;AF_fin=0.1869;AF_asj=0.3403;AF_oth=0.3006;non_topmed_AF_popmax=0.3378;non_neuro_AF_popmax=0.3386;non_cancer_AF_popmax=.;controls_AF_popmax=0.3402;Kaviar_AF=0.0020246;Kaviar_AC=313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END GT 3|0 0|0 0|3 3|0 0|0 0|0 0|0 0|3 0|0 0|0 3|2 3|2 0|0 0|0 2|3 0|0 0|0 0|0 2|0 3|0 0|0 0|0 3|0 3|0 3|0 0|0 0|0 0|0 0|3 0|0 0|0 0|0 0|3 0|3 0|3 2|0 0|0 2|3 0|0 0|0 0|0 0|0 3|2 0|3 0|0 0|3 0|0 0|3 0|0 0|3 3|0 3|2 0|3 0|3 0|3 0|3 0|0 3|0 0|3 0|0 0|0 0|3 0|3 0|2 0|0 0|0 0|0 0|0 0|0 0|3 0|0 2|0 0|2 0|0 3|0 0|0 3|0 0|0 3|0 0|0 1|0 0|3 2|3 3|2 0|2 0|0 0|0 3|2 0|0 0|0 2|3 3|0 0|0 0|0 0|0 0|0 3|0 0|3 3|0 0|0 0|3 3|0 3|0 3|0 2|0 0|2 3|2 +7 81641571 rs560674806 A G 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=14830;EAS_AF=0.003;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560674806;CLNALLELEID=369614;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.022;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0782;ExAC_nontcga_AFR=0.0278;ExAC_nontcga_AMR=0.25;ExAC_nontcga_EAS=0.125;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0645;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.1538;AF=0.0002;AF_popmax=0.0015;AF_male=0.0004;AF_female=0;AF_raw=0.0014;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0015;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0034605;Kaviar_AC=535;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81642949 rs37136 C T 100 PASS AC=102;AF=0.544728;AN=214;NS=2504;DP=9923;EAS_AF=0.4246;AMR_AF=0.4971;AFR_AF=0.8139;EUR_AF=0.4304;SAS_AF=0.456;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.544728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs37136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4966;AF_popmax=0.7600;AF_male=0.5058;AF_female=0.4850;AF_raw=0.4949;AF_afr=0.7600;AF_sas=.;AF_amr=0.4369;AF_eas=0.3834;AF_nfe=0.3874;AF_fin=0.4009;AF_asj=0.4310;AF_oth=0.4383;non_topmed_AF_popmax=0.7612;non_neuro_AF_popmax=0.7601;non_cancer_AF_popmax=.;controls_AF_popmax=0.7690;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 0|0 1|1 0|0 0|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 0|1 1|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 1|0 1|1 1|0 1|0 0|1 1|1 +7 81643813 rs78174406 T C 100 PASS AC=3;AF=0.00359425;AN=214;NS=2504;DP=17010;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78174406;CLNALLELEID=501835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0079;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0026;AF=0.0049;AF_popmax=0.0142;AF_male=0.0050;AF_female=0.0048;AF_raw=0.0049;AF_afr=0.0015;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0054656;Kaviar_AC=845;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +7 81643836 rs145015419 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16608;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145015419;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.454e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81667468 rs2229952 C T 100 PASS AC=8;AF=0.019369;AN=214;NS=2504;DP=16047;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0577;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon11:c.G963A:p.A321A;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229952;CLNALLELEID=252943;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0448;ExAC_nontcga_ALL=0.0377;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0226;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0693;ExAC_nontcga_NFE=0.0500;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0292;AF=0.0442;AF_popmax=0.0621;AF_male=0.0412;AF_female=0.0481;AF_raw=0.0442;AF_afr=0.0077;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0621;AF_fin=0.0754;AF_asj=0.0586;AF_oth=0.0579;non_topmed_AF_popmax=0.0689;non_neuro_AF_popmax=0.0626;non_cancer_AF_popmax=.;controls_AF_popmax=0.0874;Kaviar_AF=0.0372958;Kaviar_AC=5766;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.997462;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81667579 rs150571440 A G 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=17993;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150571440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0063;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0049;AF=0.0036;AF_popmax=0.0059;AF_male=0.0031;AF_female=0.0041;AF_raw=0.0036;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0012;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0039456;Kaviar_AC=610;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.251529;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81689726 rs544590655 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8773;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544590655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.518e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.457519;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81693768 rs73703113 T C 100 PASS AC=29;AF=0.091853;AN=214;NS=2504;DP=15968;EAS_AF=0.0893;AMR_AF=0.0533;AFR_AF=0.112;EUR_AF=0.0865;SAS_AF=0.1002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73703113;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0838;AF_popmax=0.1146;AF_male=0.0870;AF_female=0.0797;AF_raw=0.0842;AF_afr=0.1146;AF_sas=.;AF_amr=0.0652;AF_eas=0.1033;AF_nfe=0.0763;AF_fin=0.0343;AF_asj=0.1034;AF_oth=0.0820;non_topmed_AF_popmax=0.1152;non_neuro_AF_popmax=0.1173;non_cancer_AF_popmax=.;controls_AF_popmax=0.1160;Kaviar_AF=0.0813355;Kaviar_AC=2117;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 +7 81695859 rs200166451 G A 100 PASS AC=4;AF=0.0071885;AN=214;NS=2504;DP=11860;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0076;EUR_AF=0.0149;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200166451;CLNALLELEID=502210;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.702e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.72e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0010;AF_male=0.0008;AF_female=0.0005;AF_raw=0.0018;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0036;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81746295 rs75609676 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=18618;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75609676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0068;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0077;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0083;AF_fin=0.0176;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0087;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81765930 rs374890738 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16164;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374890738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.189e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.778474;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81765996 rs531314472 C CA 100 PASS AC=20;AF=0.125399;AN=214;NS=2504;DP=15822;EAS_AF=0.0952;AMR_AF=0.1037;AFR_AF=0.1899;EUR_AF=0.0845;SAS_AF=0.1268;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.125399;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142849270;CLNALLELEID=212618;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0985;ExAC_nontcga_ALL=0.1582;ExAC_nontcga_AFR=0.1990;ExAC_nontcga_AMR=0.2052;ExAC_nontcga_EAS=0.2029;ExAC_nontcga_FIN=0.0948;ExAC_nontcga_NFE=0.1506;ExAC_nontcga_OTH=0.1732;ExAC_nontcga_SAS=0.1385;AF=0.1120;AF_popmax=0.1635;AF_male=0.1122;AF_female=0.1117;AF_raw=0.0929;AF_afr=0.1635;AF_sas=.;AF_amr=0.1422;AF_eas=0.1111;AF_nfe=0.0816;AF_fin=0.1029;AF_asj=0.12;AF_oth=0.0979;non_topmed_AF_popmax=0.1647;non_neuro_AF_popmax=0.1710;non_cancer_AF_popmax=.;controls_AF_popmax=0.1731;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.319391;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +7 81765997 rs550978407 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15619;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550978407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0077;dbscSNV_RF_SCORE=0.164;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.319391;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799966 rs17155967 G A 100 PASS AC=4;AF=0.0139776;AN=214;NS=2504;DP=15389;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0219;EUR_AF=0.0159;SAS_AF=0.0112;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17155967;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0274;ExAC_nontcga_ALL=0.0185;ExAC_nontcga_AFR=0.0292;ExAC_nontcga_AMR=0.0132;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0138;ExAC_nontcga_NFE=0.0239;ExAC_nontcga_OTH=0.0347;ExAC_nontcga_SAS=0.0083;AF=0.0217;AF_popmax=0.0310;AF_male=0.0218;AF_female=0.0215;AF_raw=0.0216;AF_afr=0.0310;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0175;non_topmed_AF_popmax=0.0308;non_neuro_AF_popmax=0.0272;non_cancer_AF_popmax=.;controls_AF_popmax=0.0268;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799990 rs73705856 T C 100 PASS AC=4;AF=0.0609026;AN=214;NS=2504;DP=15621;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.1952;EUR_AF=0.0159;SAS_AF=0.0112;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73705856;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0292;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0583;AF_popmax=0.1617;AF_male=0.0609;AF_female=0.0551;AF_raw=0.0589;AF_afr=0.1617;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0258;non_topmed_AF_popmax=0.1609;non_neuro_AF_popmax=0.1566;non_cancer_AF_popmax=.;controls_AF_popmax=0.1562;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.829055;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799996 rs73387972 C G 100 PASS AC=4;AF=0.0609026;AN=214;NS=2504;DP=15644;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.1952;EUR_AF=0.0159;SAS_AF=0.0112;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73387972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0289;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0585;AF_popmax=0.1621;AF_male=0.0610;AF_female=0.0553;AF_raw=0.0589;AF_afr=0.1621;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0258;non_topmed_AF_popmax=0.1614;non_neuro_AF_popmax=0.1575;non_cancer_AF_popmax=.;controls_AF_popmax=0.1571;Kaviar_AF=0.0062354;Kaviar_AC=964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.778723;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81800028 rs529733358 CAGA C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16563;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529733358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81964578 rs5885290 G GA 100 PASS AC=50;AF=0.16254;AN=214;NS=2504;DP=14640;EAS_AF=0.1002;AMR_AF=0.2363;AFR_AF=0.0386;EUR_AF=0.1978;SAS_AF=0.3057;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.16254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5885290;CLNALLELEID=502212;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2010;ExAC_nontcga_ALL=0.2105;ExAC_nontcga_AFR=0.0557;ExAC_nontcga_AMR=0.3128;ExAC_nontcga_EAS=0.0925;ExAC_nontcga_FIN=0.1461;ExAC_nontcga_NFE=0.2131;ExAC_nontcga_OTH=0.1772;ExAC_nontcga_SAS=0.2966;AF=0.1592;AF_popmax=0.2669;AF_male=0.1573;AF_female=0.1616;AF_raw=0.1461;AF_afr=0.0535;AF_sas=.;AF_amr=0.2669;AF_eas=0.0889;AF_nfe=0.2173;AF_fin=0.1740;AF_asj=0.1641;AF_oth=0.2047;non_topmed_AF_popmax=0.2692;non_neuro_AF_popmax=0.2573;non_cancer_AF_popmax=.;controls_AF_popmax=0.2912;Kaviar_AF=0.0050129;Kaviar_AC=775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.296986;ALLELE_END GT 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +7 81964649 rs12056126 T G 100 PASS AC=3;AF=0.0385383;AN=214;NS=2504;DP=16701;EAS_AF=0.0813;AMR_AF=0.1095;AFR_AF=0.0053;EUR_AF=0.0119;SAS_AF=0.0164;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12056126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0186;AF_popmax=0.1185;AF_male=0.0189;AF_female=0.0181;AF_raw=0.0186;AF_afr=0.0094;AF_sas=.;AF_amr=0.1185;AF_eas=0.1058;AF_nfe=0.0112;AF_fin=0.0104;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.1191;non_neuro_AF_popmax=0.1123;non_cancer_AF_popmax=.;controls_AF_popmax=0.1341;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 82072789 rs202040993 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8636;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNA2D1;GeneDetail.refGene=NM_000722:c.-14C>T\x3bNM_001302890:c.-14C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202040993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000214488|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1901533|N/A|STAT1|PAZAR,OREG1511098|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501598;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91603004 rs10264979 G A 100 PASS AC=1;AF=0.0225639;AN=214;NS=2504;DP=11103;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0802;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10264979;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.289;DANN_score=0.635;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.084;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.184;Eigen-PC-raw=-0.140;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.295;integrated_fitCons_score_rankscore=0.044;integrated_confidence_value=0;GERP++_RS=1.63;GERP++_RS_rankscore=0.228;phyloP100way_vertebrate=0.141;phyloP100way_vertebrate_rankscore=0.158;phyloP20way_mammalian=0.090;phyloP20way_mammalian_rankscore=0.195;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.795;SiPhy_29way_logOdds_rankscore=0.082;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0992;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0228;AF_popmax=0.0808;AF_male=0.0237;AF_female=0.0216;AF_raw=0.0227;AF_afr=0.0808;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0798;non_neuro_AF_popmax=0.0768;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0067205;Kaviar_AC=1039;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91603115 rs35669569 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18980;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon2:c.C139T:p.H47Y,AKAP9:NM_147185:exon2:c.C139T:p.H47Y;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35669569;CLNALLELEID=189264;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.23;SIFT_converted_rankscore=0.326;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.462;LRT_converted_rankscore=0.124;LRT_pred=N;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.253;MutationTaster_pred=N;MutationAssessor_score=1.52;MutationAssessor_score_rankscore=0.385;MutationAssessor_pred=L;FATHMM_score=2.57;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.052;MetaSVM_score=-1.027;MetaSVM_rankscore=0.215;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.344;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.054;REVEL_rankscore=0.157;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.115;CADD_raw_rankscore=0.028;CADD_phred=0.009;DANN_score=0.666;DANN_rankscore=0.079;fathmm-MKL_coding_score=0.553;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.721;Eigen-PC-raw=-0.655;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.114;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.478;GERP++_RS_rankscore=0.159;phyloP100way_vertebrate=0.932;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=0.055;phyloP20way_mammalian_rankscore=0.163;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.938;phastCons20way_mammalian_rankscore=0.411;SiPhy_29way_logOdds=0.731;SiPhy_29way_logOdds_rankscore=0.009;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0081;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0141;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0082;AF_popmax=0.0108;AF_male=0.0076;AF_female=0.0088;AF_raw=0.0082;AF_afr=0.0024;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0179;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0104;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0083958;Kaviar_AC=1298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979146;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91622187 rs200448722 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16026;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200448722;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0062;dbscSNV_RF_SCORE=0.196;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.846e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.924e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.607315;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630330 rs138161478 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18199;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1099A:p.V367M,AKAP9:NM_147185:exon8:c.G1099A:p.V367M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138161478;CLNALLELEID=178585;CLNDN=Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.019;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.326;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=1.4;FATHMM_converted_rankscore=0.336;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.030;MetaSVM_score=-1.034;MetaSVM_rankscore=0.193;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_rankscore=0.251;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.183;M-CAP_pred=T;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.799;CADD_raw_rankscore=0.040;CADD_phred=0.043;DANN_score=0.481;DANN_rankscore=0.039;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.056;Eigen-PC-raw=-1.044;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.06;GERP++_RS_rankscore=0.094;phyloP100way_vertebrate=-0.108;phyloP100way_vertebrate_rankscore=0.107;phyloP20way_mammalian=-0.709;phyloP20way_mammalian_rankscore=0.037;phastCons100way_vertebrate=0.027;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.093;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=1.778;SiPhy_29way_logOdds_rankscore=0.028;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=7.196e-05;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.721270;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +7 91630532 rs60031334 G A 100 PASS AC=1;AF=0.0177716;AN=214;NS=2504;DP=19703;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0628;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1301A:p.R434Q,AKAP9:NM_147185:exon8:c.G1301A:p.R434Q;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60031334;CLNALLELEID=189267;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.466;SIFT_converted_rankscore=0.086;SIFT_pred=T;Polyphen2_HDIV_score=0.954;Polyphen2_HDIV_rankscore=0.556;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.166;Polyphen2_HVAR_rankscore=0.398;Polyphen2_HVAR_pred=B;LRT_score=0.040;LRT_converted_rankscore=0.240;LRT_pred=N;MutationTaster_score=0.575;MutationTaster_converted_rankscore=0.311;MutationTaster_pred=N;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=3.53;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-1.0;PROVEAN_converted_rankscore=0.264;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.051;MetaSVM_score=-1.010;MetaSVM_rankscore=0.270;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.091;REVEL_rankscore=0.269;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.698;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.980;DANN_rankscore=0.368;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.570;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.131;Eigen-PC-raw=-0.006;GenoCanyon_score=0.519;GenoCanyon_score_rankscore=0.211;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.59;GERP++_RS_rankscore=0.401;phyloP100way_vertebrate=3.911;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=9.433;SiPhy_29way_logOdds_rankscore=0.376;Interpro_domain=ELK_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0392;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.551e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0116;AF_popmax=0.0413;AF_male=0.0121;AF_female=0.0110;AF_raw=0.0116;AF_afr=0.0413;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0413;non_neuro_AF_popmax=0.0428;non_cancer_AF_popmax=.;controls_AF_popmax=0.0405;Kaviar_AF=0.0036157;Kaviar_AC=559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.144111;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630565 rs147302252 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20771;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.T1334C:p.I445T,AKAP9:NM_147185:exon8:c.T1334C:p.I445T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147302252;CLNALLELEID=457523;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=2.84;FATHMM_converted_rankscore=0.107;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.642;VEST3_rankscore=0.658;MetaSVM_score=-1.150;MetaSVM_rankscore=0.010;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.308;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.440;M-CAP_pred=T;REVEL_score=0.241;REVEL_rankscore=0.551;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.893;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.727;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=7.925;phyloP100way_vertebrate_rankscore=0.869;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.748;SiPhy_29way_logOdds_rankscore=0.776;Interpro_domain=ELK_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.513e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=7.187e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.294499;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630620 rs6964587 G T 100 PASS AC=86;AF=0.372204;AN=214;NS=2504;DP=21441;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5023;EUR_AF=0.3867;SAS_AF=0.409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1389T:p.M463I,AKAP9:NM_147185:exon8:c.G1389T:p.M463I;1000g2015aug_all=0.372204;GWAS=rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625;ORegAnno_REGULATORY_P=rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625;avsnp150=rs6964587;CLNALLELEID=140050;CLNDN=Long_QT_syndrome|Colorectal_cancer|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1527249|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.064;SIFT_converted_rankscore=0.365;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.166;LRT_converted_rankscore=0.175;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=3.93;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_converted_rankscore=0.197;PROVEAN_pred=N;VEST3_score=0.019;VEST3_rankscore=0.024;MetaSVM_score=-0.965;MetaSVM_rankscore=0.383;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.375;CADD_raw_rankscore=0.063;CADD_phred=0.443;DANN_score=0.371;DANN_rankscore=0.024;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.427;Eigen-PC-raw=-1.414;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-3.46;GERP++_RS_rankscore=0.044;phyloP100way_vertebrate=0.232;phyloP100way_vertebrate_rankscore=0.175;phyloP20way_mammalian=-1.629;phyloP20way_mammalian_rankscore=0.009;phastCons100way_vertebrate=0.307;phastCons100way_vertebrate_rankscore=0.252;phastCons20way_mammalian=0.045;phastCons20way_mammalian_rankscore=0.161;SiPhy_29way_logOdds=13.89;SiPhy_29way_logOdds_rankscore=0.631;Interpro_domain=ELK_domain;GTEx_V6p_gene=ENSG00000127914.12|ENSG00000001630.11|ENSG00000240720.3|ENSG00000127914.12|ENSG00000001630.11|ENSG00000188693.7|ENSG00000240720.3|ENSG00000127914.12;GTEx_V6p_tissue=Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis|Testis|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4030;ExAC_nontcga_ALL=0.3807;ExAC_nontcga_AFR=0.5094;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.1737;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.4005;ExAC_nontcga_OTH=0.4032;ExAC_nontcga_SAS=0.3925;AF=0.4046;AF_popmax=0.5071;AF_male=0.4067;AF_female=0.4019;AF_raw=0.4046;AF_afr=0.5071;AF_sas=.;AF_amr=0.3282;AF_eas=0.1759;AF_nfe=0.3794;AF_fin=0.3754;AF_asj=0.5276;AF_oth=0.3886;non_topmed_AF_popmax=0.5069;non_neuro_AF_popmax=0.5039;non_cancer_AF_popmax=.;controls_AF_popmax=0.5043;Kaviar_AF=0.37713;Kaviar_AC=58305;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.248874;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91632306 rs1989779 C T 100 PASS AC=185;AF=0.935903;AN=214;NS=2504;DP=19914;EAS_AF=0.9673;AMR_AF=0.9409;AFR_AF=0.9894;EUR_AF=0.8787;SAS_AF=0.8865;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T;1000g2015aug_all=0.935903;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1989779;CLNALLELEID=140052;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8727;ExAC_nontcga_ALL=0.8948;ExAC_nontcga_AFR=0.9759;ExAC_nontcga_AMR=0.9451;ExAC_nontcga_EAS=0.9784;ExAC_nontcga_FIN=0.8467;ExAC_nontcga_NFE=0.8662;ExAC_nontcga_OTH=0.8890;ExAC_nontcga_SAS=0.8897;AF=0.8909;AF_popmax=0.9734;AF_male=0.8940;AF_female=0.8869;AF_raw=0.8907;AF_afr=0.9734;AF_sas=.;AF_amr=0.9244;AF_eas=0.9731;AF_nfe=0.8487;AF_fin=0.8356;AF_asj=0.8586;AF_oth=0.8690;non_topmed_AF_popmax=0.9734;non_neuro_AF_popmax=0.9731;non_cancer_AF_popmax=.;controls_AF_popmax=0.9771;Kaviar_AF=0.881858;Kaviar_AC=136337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.909585;ALLELE_END GT 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 91641682 rs149368215 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17357;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149368215;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0006;AF_male=0.0008;AF_female=0.0003;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91641714 rs369837372 T C 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=16966;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0153;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369837372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0049;ExAC_nontcga_SAS=0.0186;AF=9.556e-05;AF_popmax=6.483e-05;AF_male=5.723e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0020698;Kaviar_AC=320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +7 91641928 rs13245393 A G 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=18366;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon9:c.A3504G:p.E1168E,AKAP9:NM_147185:exon9:c.A3504G:p.E1168E;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13245393;CLNALLELEID=140053;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3815;ExAC_nontcga_AFR=0.5154;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.1746;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.4006;ExAC_nontcga_OTH=0.4035;ExAC_nontcga_SAS=0.3936;AF=0.4058;AF_popmax=0.5120;AF_male=0.4081;AF_female=0.4029;AF_raw=0.4059;AF_afr=0.5120;AF_sas=.;AF_amr=0.3267;AF_eas=0.1754;AF_nfe=0.3792;AF_fin=0.3756;AF_asj=0.5243;AF_oth=0.3902;non_topmed_AF_popmax=0.5121;non_neuro_AF_popmax=0.5077;non_cancer_AF_popmax=.;controls_AF_popmax=0.5097;Kaviar_AF=0.378158;Kaviar_AC=58464;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.016230;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91643488 rs570971197 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570971197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91646406 rs146797353 G A 100 PASS AC=3;AF=0.0109824;AN=214;NS=2504;DP=16165;EAS_AF=0.0208;AMR_AF=0.0029;AFR_AF=0.0076;EUR_AF=0.004;SAS_AF=0.0184;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon12:c.G3827A:p.R1276Q,AKAP9:NM_147185:exon12:c.G3827A:p.R1276Q;1000g2015aug_all=0.0109824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146797353;CLNALLELEID=189273;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.596;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.364;LRT_converted_rankscore=0.136;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.64;MutationAssessor_score_rankscore=0.161;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_converted_rankscore=0.075;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.121;MetaSVM_score=-0.904;MetaSVM_rankscore=0.476;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.010;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.014;REVEL_rankscore=0.021;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.354;CADD_raw_rankscore=0.128;CADD_phred=6.202;DANN_score=0.463;DANN_rankscore=0.036;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.215;Eigen-PC-raw=-1.230;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.070;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.87;GERP++_RS_rankscore=0.073;phyloP100way_vertebrate=0.541;phyloP100way_vertebrate_rankscore=0.227;phyloP20way_mammalian=0.127;phyloP20way_mammalian_rankscore=0.214;phastCons100way_vertebrate=0.294;phastCons100way_vertebrate_rankscore=0.250;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=9.146;SiPhy_29way_logOdds_rankscore=0.359;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0.0374;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0179;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0229;AF=0.0058;AF_popmax=0.0244;AF_male=0.0056;AF_female=0.0060;AF_raw=0.0058;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0.0244;AF_nfe=0.0064;AF_fin=0.0035;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0243;non_neuro_AF_popmax=0.0244;non_cancer_AF_popmax=.;controls_AF_popmax=0.0284;Kaviar_AF=0.0086739;Kaviar_AC=1341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.284450;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91652178 rs10644111 A AAAC 100 PASS AC=86;AF=0.42472;AN=214;NS=2504;DP=15358;EAS_AF=0.1825;AMR_AF=0.3689;AFR_AF=0.6657;EUR_AF=0.3867;SAS_AF=0.4274;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=AKAP9:NM_005751:exon14:c.4003_4004insAAC:p.K1335delinsKQ,AKAP9:NM_147185:exon14:c.4003_4004insAAC:p.K1335delinsKQ;1000g2015aug_all=0.42472;GWAS=rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683;ORegAnno_REGULATORY_P=rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683;avsnp150=rs10644111;CLNALLELEID=188441;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3973;ExAC_nontcga_AFR=0.6336;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.2000;ExAC_nontcga_FIN=0.3847;ExAC_nontcga_NFE=0.4012;ExAC_nontcga_OTH=0.4096;ExAC_nontcga_SAS=0.4112;AF=0.4382;AF_popmax=0.6277;AF_male=0.4423;AF_female=0.4331;AF_raw=0.4394;AF_afr=0.6277;AF_sas=.;AF_amr=0.3322;AF_eas=0.1983;AF_nfe=0.3774;AF_fin=0.3742;AF_asj=0.5241;AF_oth=0.3963;non_topmed_AF_popmax=0.6277;non_neuro_AF_popmax=0.6222;non_cancer_AF_popmax=.;controls_AF_popmax=0.6204;Kaviar_AF=0.0116816;Kaviar_AC=1806;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1655788|N/A|FOXA1|PAZAR,OREG1597449|N/A|FOXA1|PAZAR,OREG1689839|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.988638;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91659150 rs17164315 C G 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=16874;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17164315;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4065;AF_popmax=0.5128;AF_male=0.4087;AF_female=0.4038;AF_raw=0.4059;AF_afr=0.5128;AF_sas=.;AF_amr=0.3267;AF_eas=0.1765;AF_nfe=0.3802;AF_fin=0.3753;AF_asj=0.5276;AF_oth=0.3890;non_topmed_AF_popmax=0.5127;non_neuro_AF_popmax=0.5086;non_cancer_AF_popmax=.;controls_AF_popmax=0.5098;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91660820 rs192046591 A T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16297;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192046591;CLNALLELEID=522903;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.048;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.856765;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91667692 rs2285333 T G 100 PASS AC=86;AF=0.359625;AN=214;NS=2504;DP=16414;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.4554;EUR_AF=0.3857;SAS_AF=0.41;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.359625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2285333;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3989;ExAC_nontcga_ALL=0.3896;ExAC_nontcga_AFR=0.4908;ExAC_nontcga_AMR=0.3097;ExAC_nontcga_EAS=0.1847;ExAC_nontcga_FIN=0.3905;ExAC_nontcga_NFE=0.4168;ExAC_nontcga_OTH=0.4110;ExAC_nontcga_SAS=0.4006;AF=0.3901;AF_popmax=0.4582;AF_male=0.3921;AF_female=0.3876;AF_raw=0.3905;AF_afr=0.4582;AF_sas=.;AF_amr=0.3187;AF_eas=0.1765;AF_nfe=0.3784;AF_fin=0.3755;AF_asj=0.5276;AF_oth=0.3824;non_topmed_AF_popmax=0.4584;non_neuro_AF_popmax=0.4514;non_cancer_AF_popmax=.;controls_AF_popmax=0.4477;Kaviar_AF=0.36418;Kaviar_AC=56303;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.327682;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91669950 rs75429390 T C 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=14503;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0257;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75429390;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0267;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0096;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0015;AF=0.0154;AF_popmax=0.0194;AF_male=0.0149;AF_female=0.0161;AF_raw=0.0155;AF_afr=0.0194;AF_sas=.;AF_amr=0.0038;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0084;AF_asj=0.0140;AF_oth=0.0079;non_topmed_AF_popmax=0.0204;non_neuro_AF_popmax=0.0194;non_cancer_AF_popmax=.;controls_AF_popmax=0.0302;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91669960 rs571637141 GT G 100 PASS AC=87;AF=0.398363;AN=214;NS=2504;DP=15750;EAS_AF=0.4187;AMR_AF=0.402;AFR_AF=0.3744;EUR_AF=0.4175;SAS_AF=0.3875;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.398363;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs786205706;CLNALLELEID=188443;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2648;ExAC_nontcga_AFR=0.2556;ExAC_nontcga_AMR=0.2862;ExAC_nontcga_EAS=0.2632;ExAC_nontcga_FIN=0.3653;ExAC_nontcga_NFE=0.2608;ExAC_nontcga_OTH=0.2778;ExAC_nontcga_SAS=0.2483;AF=0.0051;AF_popmax=0.0203;AF_male=0.0049;AF_female=0.0054;AF_raw=0.0101;AF_afr=0.0014;AF_sas=.;AF_amr=0.0203;AF_eas=0.0007;AF_nfe=0.0046;AF_fin=0.0391;AF_asj=0.0045;AF_oth=0.0161;non_topmed_AF_popmax=0.0220;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0571;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 +7 91672166 rs182680258 T C 100 PASS AC=4;AF=0.00738818;AN=214;NS=2504;DP=15683;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.0225;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182680258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0118;AF_male=0.0051;AF_female=0.0050;AF_raw=0.0051;AF_afr=0.0015;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0012;AF_asj=0.0414;AF_oth=0.0046;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271108|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.540475;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91674302 rs9785013 G A 100 PASS AC=86;AF=0.428514;AN=214;NS=2504;DP=17941;EAS_AF=0.1825;AMR_AF=0.3689;AFR_AF=0.6793;EUR_AF=0.3877;SAS_AF=0.4274;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9785013;CLNALLELEID=140034;CLNDN=Long_QT_syndrome_11|not_specified;CLNDISDB=MedGen:C2678483,OMIM:611820|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3978;ExAC_nontcga_AFR=0.6474;ExAC_nontcga_AMR=0.3110;ExAC_nontcga_EAS=0.1985;ExAC_nontcga_FIN=0.3860;ExAC_nontcga_NFE=0.4013;ExAC_nontcga_OTH=0.4061;ExAC_nontcga_SAS=0.4101;AF=0.4438;AF_popmax=0.6421;AF_male=0.4477;AF_female=0.4388;AF_raw=0.4436;AF_afr=0.6421;AF_sas=.;AF_amr=0.3341;AF_eas=0.1991;AF_nfe=0.3793;AF_fin=0.3753;AF_asj=0.5276;AF_oth=0.4006;non_topmed_AF_popmax=0.6424;non_neuro_AF_popmax=0.6382;non_cancer_AF_popmax=.;controls_AF_popmax=0.6352;Kaviar_AF=0.388947;Kaviar_AC=60132;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.135103;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91691601 rs10236397 C T 100 PASS AC=86;AF=0.359824;AN=214;NS=2504;DP=17846;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.4561;EUR_AF=0.3857;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon24:c.C5778T:p.G1926G,AKAP9:NM_147185:exon24:c.C5778T:p.G1926G;1000g2015aug_all=0.359824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10236397;CLNALLELEID=140036;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3776;ExAC_nontcga_AFR=0.4738;ExAC_nontcga_AMR=0.3031;ExAC_nontcga_EAS=0.1740;ExAC_nontcga_FIN=0.3859;ExAC_nontcga_NFE=0.4006;ExAC_nontcga_OTH=0.4032;ExAC_nontcga_SAS=0.3932;AF=0.3906;AF_popmax=0.4591;AF_male=0.3928;AF_female=0.3879;AF_raw=0.3906;AF_afr=0.4591;AF_sas=.;AF_amr=0.3238;AF_eas=0.1765;AF_nfe=0.3787;AF_fin=0.3757;AF_asj=0.5276;AF_oth=0.3810;non_topmed_AF_popmax=0.4593;non_neuro_AF_popmax=0.4527;non_cancer_AF_popmax=.;controls_AF_popmax=0.4487;Kaviar_AF=0.3694;Kaviar_AC=57110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.418209;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91706252 rs147194783 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=12595;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon29:c.A6696G:p.Q2232Q,AKAP9:NM_147185:exon29:c.A6672G:p.Q2224Q;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147194783;CLNALLELEID=258503;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0035;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0007115;Kaviar_AC=110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1655784|N/A|FOXA1|PAZAR,OREG1597448|N/A|FOXA1|PAZAR,OREG1689838|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.223680;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91707197 rs733957 C T 100 PASS AC=86;AF=0.36242;AN=214;NS=2504;DP=14601;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.466;EUR_AF=0.3857;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.36242;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs733957;CLNALLELEID=140038;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.4004;ExAC_nontcga_ALL=0.4068;ExAC_nontcga_AFR=0.4951;ExAC_nontcga_AMR=0.3390;ExAC_nontcga_EAS=0.2118;ExAC_nontcga_FIN=0.4016;ExAC_nontcga_NFE=0.4315;ExAC_nontcga_OTH=0.4238;ExAC_nontcga_SAS=0.4052;AF=0.3929;AF_popmax=0.4662;AF_male=0.3947;AF_female=0.3906;AF_raw=0.3926;AF_afr=0.4662;AF_sas=.;AF_amr=0.3235;AF_eas=0.1757;AF_nfe=0.3795;AF_fin=0.3749;AF_asj=0.5243;AF_oth=0.3819;non_topmed_AF_popmax=0.4665;non_neuro_AF_popmax=0.4606;non_cancer_AF_popmax=.;controls_AF_popmax=0.4567;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.037291;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91708722 rs61757672 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20880;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.G7275A:p.Q2425Q,AKAP9:NM_147185:exon31:c.G7251A:p.Q2417Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61757672;CLNALLELEID=140040;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0020;AF=0.0028;AF_popmax=0.0043;AF_male=0.0024;AF_female=0.0034;AF_raw=0.0028;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0017;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0029236;Kaviar_AC=452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.807394;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91708898 rs35759833 A G 100 PASS AC=31;AF=0.0654952;AN=214;NS=2504;DP=19752;EAS_AF=0.0327;AMR_AF=0.0605;AFR_AF=0.0136;EUR_AF=0.1252;SAS_AF=0.1115;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.A7451G:p.K2484R,AKAP9:NM_147185:exon31:c.A7427G:p.K2476R;1000g2015aug_all=0.0654952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35759833;CLNALLELEID=140041;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.552;SIFT_converted_rankscore=0.067;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.242;LRT_converted_rankscore=0.036;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.455;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=4.04;FATHMM_converted_rankscore=0.034;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.009;MetaSVM_score=-0.927;MetaSVM_rankscore=0.446;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.007;REVEL_rankscore=0.005;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.816;CADD_raw_rankscore=0.011;CADD_phred=0.002;DANN_score=0.389;DANN_rankscore=0.026;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_rankscore=0.095;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.706;Eigen-PC-raw=-1.795;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.327;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-8.74;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=-0.723;phyloP100way_vertebrate_rankscore=0.050;phyloP20way_mammalian=-0.629;phyloP20way_mammalian_rankscore=0.042;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.265;SiPhy_29way_logOdds_rankscore=0.148;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1273;ExAC_nontcga_ALL=0.1064;ExAC_nontcga_AFR=0.0276;ExAC_nontcga_AMR=0.0550;ExAC_nontcga_EAS=0.0220;ExAC_nontcga_FIN=0.1540;ExAC_nontcga_NFE=0.1349;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.1105;AF=0.1102;AF_popmax=0.1519;AF_male=0.1070;AF_female=0.1143;AF_raw=0.1105;AF_afr=0.0296;AF_sas=.;AF_amr=0.0767;AF_eas=0.0257;AF_nfe=0.1519;AF_fin=0.1639;AF_asj=0.1448;AF_oth=0.1326;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1516;non_cancer_AF_popmax=.;controls_AF_popmax=0.1655;Kaviar_AF=0.109035;Kaviar_AC=16857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.258596;ALLELE_END GT 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 91708935 rs201977551 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20112;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.T7488G:p.N2496K,AKAP9:NM_147185:exon31:c.T7464G:p.N2488K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201977551;CLNALLELEID=189288;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.298;SIFT_converted_rankscore=0.146;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.060;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.66;MutationAssessor_score_rankscore=0.163;MutationAssessor_pred=N;FATHMM_score=4.1;FATHMM_converted_rankscore=0.033;FATHMM_pred=T;PROVEAN_score=-0.6;PROVEAN_converted_rankscore=0.210;PROVEAN_pred=N;VEST3_score=0.083;VEST3_rankscore=0.077;MetaSVM_score=-0.940;MetaSVM_rankscore=0.426;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.185;M-CAP_pred=T;REVEL_score=0.033;REVEL_rankscore=0.083;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.178;CADD_raw_rankscore=0.078;CADD_phred=1.218;DANN_score=0.601;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.214;fathmm-MKL_coding_rankscore=0.212;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.099;Eigen-PC-raw=-1.030;GenoCanyon_score=0.013;GenoCanyon_score_rankscore=0.124;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-0.088;GERP++_RS_rankscore=0.129;phyloP100way_vertebrate=0.087;phyloP100way_vertebrate_rankscore=0.147;phyloP20way_mammalian=0.003;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.101;phastCons100way_vertebrate_rankscore=0.226;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=5.365;SiPhy_29way_logOdds_rankscore=0.153;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.94e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.887135;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91711791 rs200494782;rs2079082 A AT,G 100 PASS AC=2,88;AF=0.00399361,0.360623;AN=214;NS=2504;DP=17229;EAS_AF=0,0.1617;AMR_AF=0.0043,0.3559;AFR_AF=0,0.4561;EUR_AF=0.0159,0.3877;SAS_AF=0.001,0.4121;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144287689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0115;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0116;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0024;AF=0.0068;AF_popmax=0.0102;AF_male=0.0064;AF_female=0.0073;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0102;AF_asj=0.0035;AF_oth=0.0065;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0093;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2079082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4042;ExAC_nontcga_ALL=0.3815;ExAC_nontcga_AFR=0.4777;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.1767;ExAC_nontcga_FIN=0.3887;ExAC_nontcga_NFE=0.4056;ExAC_nontcga_OTH=0.4026;ExAC_nontcga_SAS=0.3947;AF=0.3916;AF_popmax=0.4602;AF_male=0.3939;AF_female=0.3887;AF_raw=0.3907;AF_afr=0.4602;AF_sas=.;AF_amr=0.3211;AF_eas=0.1765;AF_nfe=0.3801;AF_fin=0.3767;AF_asj=0.5243;AF_oth=0.3819;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4540;non_cancer_AF_popmax=.;controls_AF_popmax=0.4497;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 2|0 0|2 2|0 2|2 2|0 0|2 0|2 2|0 0|2 2|2 2|2 2|0 0|0 0|0 0|0 2|0 0|0 0|0 2|0 0|0 0|2 2|0 1|0 0|0 0|0 0|0 2|0 2|0 0|0 2|2 0|0 0|0 2|0 2|0 2|0 2|2 2|2 2|2 2|2 0|0 0|2 0|0 2|2 0|0 2|0 2|2 0|0 2|2 0|2 2|0 2|2 0|2 0|0 0|2 0|2 0|0 2|0 0|0 0|0 0|0 2|2 0|2 2|0 0|0 0|0 0|2 2|2 2|2 0|2 2|0 0|2 0|0 2|0 2|0 2|0 0|2 0|2 2|0 0|0 2|0 2|2 0|2 0|2 0|0 0|0 0|0 0|0 0|0 2|2 2|0 2|2 0|0 2|2 2|2 1|0 0|0 2|0 0|2 0|0 2|2 2|0 0|0 0|0 0|0 0|0 2|0 0|0 +7 91712609 rs144875383 A C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18655;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8286C:p.K2762N,AKAP9:NM_147185:exon33:c.A8262C:p.K2754N;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144875383;CLNALLELEID=189291;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.435;Polyphen2_HDIV_rankscore=0.339;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.215;Polyphen2_HVAR_rankscore=0.358;Polyphen2_HVAR_pred=B;LRT_score=0.086;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.266;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.292;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.313;M-CAP_pred=T;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.507;CADD_raw_rankscore=0.055;CADD_phred=0.211;DANN_score=0.217;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.455;fathmm-MKL_coding_rankscore=0.273;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-1.022;GenoCanyon_score=0.080;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.12;GERP++_RS_rankscore=0.196;phyloP100way_vertebrate=1.214;phyloP100way_vertebrate_rankscore=0.318;phyloP20way_mammalian=0.125;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.195;phastCons100way_vertebrate_rankscore=0.240;phastCons20way_mammalian=0.027;phastCons20way_mammalian_rankscore=0.143;SiPhy_29way_logOdds=9.863;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0013001;Kaviar_AC=201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.736401;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91712678 rs201128911 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19732;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.T8355G:p.T2785T,AKAP9:NM_147185:exon33:c.T8331G:p.T2777T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201128911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.435e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.456065;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91712698 rs6960867 A G 100 PASS AC=85;AF=0.295927;AN=214;NS=2504;DP=19775;EAS_AF=0.1617;AMR_AF=0.3458;AFR_AF=0.2209;EUR_AF=0.3837;SAS_AF=0.41;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8375G:p.N2792S,AKAP9:NM_147185:exon33:c.A8351G:p.N2784S;1000g2015aug_all=0.295927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6960867;CLNALLELEID=140043;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.232;SIFT_converted_rankscore=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.176;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.934;LRT_converted_rankscore=0.084;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.001;MetaSVM_score=-0.923;MetaSVM_rankscore=0.451;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.076;CADD_raw_rankscore=0.087;CADD_phred=1.912;DANN_score=0.814;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.894;Eigen-PC-raw=-0.941;GenoCanyon_score=0.113;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-2.13;GERP++_RS_rankscore=0.067;phyloP100way_vertebrate=0.334;phyloP100way_vertebrate_rankscore=0.194;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.896;phastCons20way_mammalian_rankscore=0.378;SiPhy_29way_logOdds=1.523;SiPhy_29way_logOdds_rankscore=0.023;Interpro_domain=.;GTEx_V6p_gene=ENSG00000127914.12|ENSG00000001630.11|ENSG00000240720.3|ENSG00000001630.11|ENSG00000188693.7|ENSG00000127914.12;GTEx_V6p_tissue=Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4013;ExAC_nontcga_ALL=0.3574;ExAC_nontcga_AFR=0.2536;ExAC_nontcga_AMR=0.2930;ExAC_nontcga_EAS=0.1744;ExAC_nontcga_FIN=0.3859;ExAC_nontcga_NFE=0.3996;ExAC_nontcga_OTH=0.3948;ExAC_nontcga_SAS=0.3929;AF=0.3310;AF_popmax=0.3777;AF_male=0.3303;AF_female=0.3318;AF_raw=0.3313;AF_afr=0.2491;AF_sas=.;AF_amr=0.3101;AF_eas=0.1759;AF_nfe=0.3777;AF_fin=0.3754;AF_asj=0.5241;AF_oth=0.3708;non_topmed_AF_popmax=0.3744;non_neuro_AF_popmax=0.3799;non_cancer_AF_popmax=.;controls_AF_popmax=0.3705;Kaviar_AF=0.353333;Kaviar_AC=54626;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.156142;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713016 rs34688691 TA T 100 PASS AC=86;AF=0.360623;AN=214;NS=2504;DP=17586;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.4569;EUR_AF=0.3857;SAS_AF=0.4121;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34688691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4960;ExAC_nontcga_AFR=0.5492;ExAC_nontcga_AMR=0.4450;ExAC_nontcga_EAS=0.3234;ExAC_nontcga_FIN=0.4676;ExAC_nontcga_NFE=0.5129;ExAC_nontcga_OTH=0.4913;ExAC_nontcga_SAS=0.5203;AF=0.4088;AF_popmax=0.4594;AF_male=0.4112;AF_female=0.4057;AF_raw=0.3898;AF_afr=0.4594;AF_sas=.;AF_amr=0.3662;AF_eas=0.1754;AF_nfe=0.3954;AF_fin=0.4451;AF_asj=0.5471;AF_oth=0.4233;non_topmed_AF_popmax=0.4597;non_neuro_AF_popmax=0.4555;non_cancer_AF_popmax=.;controls_AF_popmax=0.4527;Kaviar_AF=0.0043596;Kaviar_AC=674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713017 rs10253598 A T 100 PASS AC=73;AF=0.322085;AN=214;NS=2504;DP=17591;EAS_AF=0.1518;AMR_AF=0.3156;AFR_AF=0.4123;EUR_AF=0.3529;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.322085;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10253598;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0107;ExAC_nontcga_AFR=0.0590;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0083;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0087;AF=0.0031;AF_popmax=0.0098;AF_male=0.0033;AF_female=0.0027;AF_raw=0.0030;AF_afr=0.0098;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0004;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0110;Kaviar_AF=0.0309634;Kaviar_AC=4787;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|0 1|0 0|1 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91713018 rs114399745 A T 100 PASS AC=86;AF=0.360623;AN=214;NS=2504;DP=17402;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.4569;EUR_AF=0.3857;SAS_AF=0.4121;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114399745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4738;ExAC_nontcga_AFR=0.5339;ExAC_nontcga_AMR=0.4305;ExAC_nontcga_EAS=0.3014;ExAC_nontcga_FIN=0.4569;ExAC_nontcga_NFE=0.4950;ExAC_nontcga_OTH=0.4700;ExAC_nontcga_SAS=0.4719;AF=0.3882;AF_popmax=0.4456;AF_male=0.3910;AF_female=0.3846;AF_raw=0.3791;AF_afr=0.4456;AF_sas=.;AF_amr=0.3367;AF_eas=0.1741;AF_nfe=0.3775;AF_fin=0.3973;AF_asj=0.4612;AF_oth=0.3824;non_topmed_AF_popmax=0.4458;non_neuro_AF_popmax=0.4424;non_cancer_AF_popmax=.;controls_AF_popmax=0.4371;Kaviar_AF=0.287849;Kaviar_AC=44502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713972 rs10228334 C T 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=15836;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon34:c.C8665T:p.L2889L,AKAP9:NM_147185:exon34:c.C8641T:p.L2881L;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10228334;CLNALLELEID=140044;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4027;ExAC_nontcga_ALL=0.3812;ExAC_nontcga_AFR=0.5179;ExAC_nontcga_AMR=0.3042;ExAC_nontcga_EAS=0.1735;ExAC_nontcga_FIN=0.3854;ExAC_nontcga_NFE=0.4004;ExAC_nontcga_OTH=0.4043;ExAC_nontcga_SAS=0.3933;AF=0.4061;AF_popmax=0.5121;AF_male=0.4086;AF_female=0.4031;AF_raw=0.4057;AF_afr=0.5121;AF_sas=.;AF_amr=0.3278;AF_eas=0.1765;AF_nfe=0.3793;AF_fin=0.3766;AF_asj=0.5312;AF_oth=0.3893;non_topmed_AF_popmax=0.5120;non_neuro_AF_popmax=0.5083;non_cancer_AF_popmax=.;controls_AF_popmax=0.5097;Kaviar_AF=0.373947;Kaviar_AC=57813;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.200976;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91714911 rs1063242 C T 100 PASS AC=214;AF=0.998802;AN=214;NS=2504;DP=14394;EAS_AF=1;AMR_AF=0.9986;AFR_AF=1;EUR_AF=0.997;SAS_AF=0.998;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S;1000g2015aug_all=0.998802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1063242;CLNALLELEID=140045;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_converted_rankscore=0.122;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-2.075;MutationAssessor_score_rankscore=0.002;MutationAssessor_pred=N;FATHMM_score=4.21;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=1.45;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.270;MetaSVM_score=-1.027;MetaSVM_rankscore=0.213;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.130;CADD_raw_rankscore=0.082;CADD_phred=1.518;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.030;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.340;Eigen-PC-raw=-1.152;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.112;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.47;GERP++_RS_rankscore=0.290;phyloP100way_vertebrate=0.958;phyloP100way_vertebrate_rankscore=0.286;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=0.053;phastCons100way_vertebrate_rankscore=0.213;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=1.723;SiPhy_29way_logOdds_rankscore=0.027;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9962;ExAC_nontcga_ALL=0.9962;ExAC_nontcga_AFR=0.9996;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9920;ExAC_nontcga_NFE=0.9965;ExAC_nontcga_OTH=0.9899;ExAC_nontcga_SAS=0.9920;AF=0.9958;AF_popmax=1;AF_male=0.9965;AF_female=0.9950;AF_raw=0.9958;AF_afr=0.9997;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9941;AF_fin=0.9919;AF_asj=1;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.818023;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 91714998 rs190695638 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15783;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.G9022A:p.E3008K,AKAP9:NM_147185:exon36:c.G8998A:p.E3000K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190695638;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.25;SIFT_converted_rankscore=0.171;SIFT_pred=T;Polyphen2_HDIV_score=0.374;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.201;Polyphen2_HVAR_pred=B;LRT_score=0.120;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=N;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=3.87;FATHMM_converted_rankscore=0.039;FATHMM_pred=T;PROVEAN_score=-1.39;PROVEAN_converted_rankscore=0.381;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.370;MetaSVM_score=-0.970;MetaSVM_rankscore=0.373;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.177;M-CAP_pred=T;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.726;CADD_raw_rankscore=0.163;CADD_phred=8.998;DANN_score=0.445;DANN_rankscore=0.034;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_rankscore=0.177;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.081;Eigen-PC-raw=-1.132;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.102;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.18;GERP++_RS_rankscore=0.091;phyloP100way_vertebrate=0.195;phyloP100way_vertebrate_rankscore=0.168;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=0.029;phastCons100way_vertebrate_rankscore=0.202;phastCons20way_mammalian=0.810;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=5.776;SiPhy_29way_logOdds_rankscore=0.174;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.115e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.281e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.993761;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91715662 rs28927678 C T 100 PASS AC=85;AF=0.295727;AN=214;NS=2504;DP=14480;EAS_AF=0.1617;AMR_AF=0.3458;AFR_AF=0.2201;EUR_AF=0.3837;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon37:c.C9145T:p.L3049L,AKAP9:NM_147185:exon37:c.C9121T:p.L3041L;1000g2015aug_all=0.295727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28927678;CLNALLELEID=140046;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4013;ExAC_nontcga_ALL=0.3569;ExAC_nontcga_AFR=0.2509;ExAC_nontcga_AMR=0.2931;ExAC_nontcga_EAS=0.1740;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.3994;ExAC_nontcga_OTH=0.3948;ExAC_nontcga_SAS=0.3926;AF=0.3307;AF_popmax=0.3779;AF_male=0.3298;AF_female=0.3318;AF_raw=0.3310;AF_afr=0.2479;AF_sas=.;AF_amr=0.3097;AF_eas=0.1748;AF_nfe=0.3779;AF_fin=0.3753;AF_asj=0.5241;AF_oth=0.3697;non_topmed_AF_popmax=0.3746;non_neuro_AF_popmax=0.3801;non_cancer_AF_popmax=.;controls_AF_popmax=0.3710;Kaviar_AF=0.345701;Kaviar_AC=53446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.049498;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91718874 rs56295910 A G 100 PASS AC=1;AF=0.0125799;AN=214;NS=2504;DP=17012;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0419;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56295910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.128;VEST3_rankscore=0.146;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.526;CADD_raw_rankscore=0.144;CADD_phred=7.624;DANN_score=0.428;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.106;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.534;Eigen-PC-raw=-0.672;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.048;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=1.71;GERP++_RS_rankscore=0.233;phyloP100way_vertebrate=0.252;phyloP100way_vertebrate_rankscore=0.179;phyloP20way_mammalian=1.041;phyloP20way_mammalian_rankscore=0.660;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=3.478;SiPhy_29way_logOdds_rankscore=0.071;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0203;ExAC_nontcga_ALL=0.0244;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0188;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0335;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0446;ExAC_nontcga_SAS=0.0621;AF=0.0165;AF_popmax=0.0217;AF_male=0.0150;AF_female=0.0184;AF_raw=0.0166;AF_afr=0.0039;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0283;AF_asj=0.0138;AF_oth=0.0350;non_topmed_AF_popmax=0.0227;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0248;Kaviar_AF=0.0196375;Kaviar_AC=3036;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.308932;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726280 rs572101398 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18741;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.G10007A:p.R3336Q,AKAP9:NM_147185:exon41:c.G9983A:p.R3328Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572101398;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.411;SIFT_converted_rankscore=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.419;LRT_converted_rankscore=0.129;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=4.02;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.219;MetaSVM_score=-0.948;MetaSVM_rankscore=0.414;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.040;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.181;M-CAP_pred=T;REVEL_score=0.026;REVEL_rankscore=0.059;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.447;CADD_raw_rankscore=0.137;CADD_phred=7.013;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.240;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.448;Eigen-PC-raw=-0.549;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.089;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.69;GERP++_RS_rankscore=0.308;phyloP100way_vertebrate=0.384;phyloP100way_vertebrate_rankscore=0.202;phyloP20way_mammalian=0.079;phyloP20way_mammalian_rankscore=0.188;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=4.676;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.708410;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726470 rs143627839 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19768;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.T10197C:p.T3399T,AKAP9:NM_147185:exon41:c.T10173C:p.T3391T;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143627839;CLNALLELEID=212622;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=0.0013;AF_popmax=0.0021;AF_male=0.0013;AF_female=0.0013;AF_raw=0.0013;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0014942;Kaviar_AC=231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.231276;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726927 rs1063243 A C 100 PASS AC=86;AF=0.377396;AN=214;NS=2504;DP=18085;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5212;EUR_AF=0.3867;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.A10426C:p.R3476R,AKAP9:NM_147185:exon42:c.A10402C:p.R3468R;1000g2015aug_all=0.377396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1063243;CLNALLELEID=140047;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4036;ExAC_nontcga_ALL=0.3825;ExAC_nontcga_AFR=0.5308;ExAC_nontcga_AMR=0.3052;ExAC_nontcga_EAS=0.1742;ExAC_nontcga_FIN=0.3858;ExAC_nontcga_NFE=0.4004;ExAC_nontcga_OTH=0.4029;ExAC_nontcga_SAS=0.3933;AF=0.4081;AF_popmax=0.5214;AF_male=0.4107;AF_female=0.4049;AF_raw=0.4085;AF_afr=0.5214;AF_sas=.;AF_amr=0.3267;AF_eas=0.1742;AF_nfe=0.3788;AF_fin=0.3756;AF_asj=0.5276;AF_oth=0.3886;non_topmed_AF_popmax=0.5213;non_neuro_AF_popmax=0.5180;non_cancer_AF_popmax=.;controls_AF_popmax=0.5187;Kaviar_AF=0.379795;Kaviar_AC=58717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.643307;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91727018 rs200735563 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17958;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.C10517A:p.T3506N,AKAP9:NM_147185:exon42:c.C10493A:p.T3498N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200735563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.497;SIFT_converted_rankscore=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.261;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.253;Polyphen2_HVAR_pred=B;LRT_score=0.597;LRT_converted_rankscore=0.110;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.3;MutationAssessor_score_rankscore=0.659;MutationAssessor_pred=M;FATHMM_score=4.01;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.031;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.081;M-CAP_pred=T;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.054;CADD_raw_rankscore=0.099;CADD_phred=3.120;DANN_score=0.604;DANN_rankscore=0.063;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_rankscore=0.115;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.860;Eigen-PC-raw=-0.882;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.044;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=0.98;GERP++_RS_rankscore=0.188;phyloP100way_vertebrate=0.036;phyloP100way_vertebrate_rankscore=0.136;phyloP20way_mammalian=0.049;phyloP20way_mammalian_rankscore=0.161;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.914;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=1.057;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.437901;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91727385 rs6946356 G A 100 PASS AC=86;AF=0.362021;AN=214;NS=2504;DP=17018;EAS_AF=0.1607;AMR_AF=0.3559;AFR_AF=0.4652;EUR_AF=0.3857;SAS_AF=0.41;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.362021;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6946356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4027;ExAC_nontcga_ALL=0.3934;ExAC_nontcga_AFR=0.4877;ExAC_nontcga_AMR=0.3164;ExAC_nontcga_EAS=0.1907;ExAC_nontcga_FIN=0.3919;ExAC_nontcga_NFE=0.4175;ExAC_nontcga_OTH=0.4060;ExAC_nontcga_SAS=0.4044;AF=0.3926;AF_popmax=0.4659;AF_male=0.3947;AF_female=0.3900;AF_raw=0.3925;AF_afr=0.4659;AF_sas=.;AF_amr=0.3235;AF_eas=0.1770;AF_nfe=0.3789;AF_fin=0.3756;AF_asj=0.5276;AF_oth=0.3815;non_topmed_AF_popmax=0.4662;non_neuro_AF_popmax=0.4600;non_cancer_AF_popmax=.;controls_AF_popmax=0.4567;Kaviar_AF=0.365532;Kaviar_AC=56512;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91727479 rs139046510 A T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16526;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10664T:p.D3555V,AKAP9:NM_147185:exon43:c.A10640T:p.D3547V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139046510;CLNALLELEID=188463;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.743;Polyphen2_HVAR_rankscore=0.576;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=3.93;FATHMM_converted_rankscore=0.037;FATHMM_pred=T;PROVEAN_score=-4.6;PROVEAN_converted_rankscore=0.813;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=-1.176;MetaSVM_rankscore=0.004;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_rankscore=0.136;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.455;M-CAP_pred=T;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.273;CADD_raw_rankscore=0.866;CADD_phred=29.0;DANN_score=0.970;DANN_rankscore=0.312;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.919;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.617;Eigen-PC-raw=0.597;GenoCanyon_score=0.610;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.74;GERP++_RS_rankscore=0.596;phyloP100way_vertebrate=6.058;phyloP100way_vertebrate_rankscore=0.706;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.681;SiPhy_29way_logOdds_rankscore=0.685;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0006;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.791561;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91727487 rs144054367 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16313;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10672G:p.I3558V,AKAP9:NM_147185:exon43:c.A10648G:p.I3550V;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144054367;CLNALLELEID=189302;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.042;SIFT_converted_rankscore=0.416;SIFT_pred=D;Polyphen2_HDIV_score=0.838;Polyphen2_HDIV_rankscore=0.444;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.248;Polyphen2_HVAR_rankscore=0.372;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.401;LRT_pred=N;MutationTaster_score=0.934;MutationTaster_converted_rankscore=0.371;MutationTaster_pred=D;MutationAssessor_score=2.615;MutationAssessor_score_rankscore=0.767;MutationAssessor_pred=M;FATHMM_score=3.78;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.119;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.031;MetaSVM_score=-0.889;MetaSVM_rankscore=0.490;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.035;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.295;M-CAP_pred=T;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.059;CADD_raw_rankscore=0.428;CADD_phred=22.4;DANN_score=0.951;DANN_rankscore=0.255;fathmm-MKL_coding_score=0.866;fathmm-MKL_coding_rankscore=0.456;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.281;Eigen-PC-raw=-0.213;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.046;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.637;GERP++_RS_rankscore=0.168;phyloP100way_vertebrate=1.113;phyloP100way_vertebrate_rankscore=0.306;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.731;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008021;Kaviar_AC=124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.674099;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91729127 rs34327395 A G 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=20557;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0091;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon44:c.A10840G:p.M3614V,AKAP9:NM_147185:exon44:c.A10816G:p.M3606V;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34327395;CLNALLELEID=140048;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.271;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_converted_rankscore=0.225;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.238;MutationTaster_pred=N;MutationAssessor_score=2.585;MutationAssessor_score_rankscore=0.758;MutationAssessor_pred=M;FATHMM_score=4.06;FATHMM_converted_rankscore=0.034;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.348;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.094;MetaSVM_score=-0.902;MetaSVM_rankscore=0.478;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.042;REVEL_rankscore=0.116;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.252;CADD_raw_rankscore=0.216;CADD_phred=12.02;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_rankscore=0.482;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.756;Eigen-PC-raw=-0.625;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.11;GERP++_RS_rankscore=0.195;phyloP100way_vertebrate=2.903;phyloP100way_vertebrate_rankscore=0.482;phyloP20way_mammalian=0.196;phyloP20way_mammalian_rankscore=0.251;phastCons100way_vertebrate=0.988;phastCons100way_vertebrate_rankscore=0.363;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=5.656;SiPhy_29way_logOdds_rankscore=0.168;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0021;AF=0.0081;AF_popmax=0.0100;AF_male=0.0078;AF_female=0.0085;AF_raw=0.0081;AF_afr=0.0095;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0094;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.850297;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91730115 rs117615503 G C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117615503;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0047;AF_popmax=0.0079;AF_male=0.0051;AF_female=0.0042;AF_raw=0.0047;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0012;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0076;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0007568;Kaviar_AC=117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.519386;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91732083 rs141856443 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15066;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon46:c.G11273A:p.R3758H,AKAP9:NM_147185:exon46:c.G11249A:p.R3750H;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141856443;CLNALLELEID=189307;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.427;SIFT_converted_rankscore=0.096;SIFT_pred=T;Polyphen2_HDIV_score=0.165;Polyphen2_HDIV_rankscore=0.269;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_converted_rankscore=0.243;LRT_pred=N;MutationTaster_score=0.555;MutationTaster_converted_rankscore=0.313;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=3.83;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_converted_rankscore=0.431;PROVEAN_pred=N;VEST3_score=0.158;VEST3_rankscore=0.250;MetaSVM_score=-0.975;MetaSVM_rankscore=0.361;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.240;M-CAP_pred=T;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.838;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.877;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.828;fathmm-MKL_coding_rankscore=0.417;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.572;Eigen-PC-raw=-0.385;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.58;GERP++_RS_rankscore=0.299;phyloP100way_vertebrate=2.136;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=-0.262;phyloP20way_mammalian_rankscore=0.088;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.787;phastCons20way_mammalian_rankscore=0.332;SiPhy_29way_logOdds=7.368;SiPhy_29way_logOdds_rankscore=0.258;Interpro_domain=Pericentrin/AKAP-450_centrosomal_targeting_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0054;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0036;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0049;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.047890;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91734904 rs563870582 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20034;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563870582;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91734913 rs532851043 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532851043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0006;AF_male=0;AF_female=7.182e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91735104 rs146124634 A C 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19514;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146124634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0035;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=7.182e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.534004;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91735110 rs571816612 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19050;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571816612;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.496e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.857e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.534004;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 91736794 rs7785971 T A 100 PASS AC=88;AF=0.428315;AN=214;NS=2504;DP=16464;EAS_AF=0.1825;AMR_AF=0.3718;AFR_AF=0.677;EUR_AF=0.3877;SAS_AF=0.4274;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7785971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4393;AF_popmax=0.6383;AF_male=0.4431;AF_female=0.4345;AF_raw=0.4396;AF_afr=0.6383;AF_sas=.;AF_amr=0.3322;AF_eas=0.1981;AF_nfe=0.3769;AF_fin=0.3592;AF_asj=0.5207;AF_oth=0.3959;non_topmed_AF_popmax=0.6384;non_neuro_AF_popmax=0.6353;non_cancer_AF_popmax=.;controls_AF_popmax=0.6327;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.410646::-0.136023;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|0 0|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 +7 91736803 rs553020204;rs535447834 AT A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535447834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0022;AF_popmax=0.0033;AF_male=0.0023;AF_female=0.0021;AF_raw=0.0022;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0014;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.0008068;Kaviar_AC=21;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91739498 rs144959713 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15368;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=AKAP9;GeneDetail.refGene=NM_147185:c.*25G>A\x3bNM_005751:c.*25G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144959713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.531e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.555e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.121816;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 92077202 rs552238004 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7931;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G159A:p.G53G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs552238004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000215088|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193989|N/A|TFAP2C|PAZAR,OREG1516294|N/A|EGR1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR,OREG1907246|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.289036;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 92077203 rs10281879 G A 100 PASS AC=25;AF=0.0816693;AN=214;NS=2504;DP=7920;EAS_AF=0.0397;AMR_AF=0.0793;AFR_AF=0.0741;EUR_AF=0.1471;SAS_AF=0.0695;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G160A:p.G54S;1000g2015aug_all=0.0816693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10281879;CLNALLELEID=54990;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.714;SIFT_converted_rankscore=0.040;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.056;LRT_converted_rankscore=0.226;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.191;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-3.49;FATHMM_converted_rankscore=0.946;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_converted_rankscore=0.030;PROVEAN_pred=N;VEST3_score=0.198;VEST3_rankscore=0.243;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.020;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.228;REVEL_rankscore=0.532;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.493;CADD_raw_rankscore=0.056;CADD_phred=0.228;DANN_score=0.898;DANN_rankscore=0.185;fathmm-MKL_coding_score=0.288;fathmm-MKL_coding_rankscore=0.234;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.001;Eigen-PC-raw=-0.979;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.243;integrated_fitCons_score_rankscore=0.034;integrated_confidence_value=2;GERP++_RS=-1.05;GERP++_RS_rankscore=0.095;phyloP100way_vertebrate=0.644;phyloP100way_vertebrate_rankscore=0.243;phyloP20way_mammalian=0.855;phyloP20way_mammalian_rankscore=0.374;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.817;phastCons20way_mammalian_rankscore=0.342;SiPhy_29way_logOdds=1.105;SiPhy_29way_logOdds_rankscore=0.016;Interpro_domain=Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2982;ExAC_nontcga_AFR=0.5;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.2614;AF=0.1100;AF_popmax=0.1303;AF_male=0.1079;AF_female=0.1127;AF_raw=0.1102;AF_afr=0.0805;AF_sas=.;AF_amr=0.0837;AF_eas=0.0321;AF_nfe=0.1303;AF_fin=0.1307;AF_asj=0.1424;AF_oth=0.1169;non_topmed_AF_popmax=0.1343;non_neuro_AF_popmax=0.1305;non_cancer_AF_popmax=.;controls_AF_popmax=0.1467;Kaviar_AF=0.0222572;Kaviar_AC=3441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.12594::-0.286752;ENSEMBLReg=Name\x3dENSR00000215088|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1516294|N/A|EGR1|PAZAR,OREG1193989|N/A|TFAP2C|PAZAR,OREG1907246|N/A|STAT1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.289036;ALLELE_END GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 92084022 rs138108362 G GT 100 PASS AC=12;AF=0.0179712;AN=214;NS=2504;DP=19511;EAS_AF=0.004;AMR_AF=0.0173;AFR_AF=0.0045;EUR_AF=0.0517;SAS_AF=0.0164;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138108362;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0412;ExAC_nontcga_ALL=0.0265;ExAC_nontcga_AFR=0.0081;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0.0037;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0.0386;ExAC_nontcga_SAS=0.0252;AF=0.0235;AF_popmax=0.0342;AF_male=0.0228;AF_female=0.0243;AF_raw=0.0235;AF_afr=0.0068;AF_sas=.;AF_amr=0.0288;AF_eas=0.0032;AF_nfe=0.0342;AF_fin=0.0223;AF_asj=0.0490;AF_oth=0.0262;non_topmed_AF_popmax=0.0307;non_neuro_AF_popmax=0.0350;non_cancer_AF_popmax=.;controls_AF_popmax=0.0413;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 92085763 rs34768413 C T 100 PASS AC=5;AF=0.00698882;AN=214;NS=2504;DP=19245;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon5:c.C697T:p.R233W;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34768413;CLNALLELEID=54994;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_rankscore=0.473;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_converted_rankscore=0.582;FATHMM_pred=T;PROVEAN_score=-6.59;PROVEAN_converted_rankscore=0.920;PROVEAN_pred=D;VEST3_score=0.6;VEST3_rankscore=0.625;MetaSVM_score=-0.813;MetaSVM_rankscore=0.544;MetaSVM_pred=T;MetaLR_score=0.107;MetaLR_rankscore=0.389;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.221;REVEL_rankscore=0.522;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.208;CADD_raw_rankscore=0.945;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.286;Eigen-PC-raw=0.247;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.448;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.54;GERP++_RS_rankscore=0.395;phyloP100way_vertebrate=1.270;phyloP100way_vertebrate_rankscore=0.325;phyloP20way_mammalian=-0.011;phyloP20way_mammalian_rankscore=0.132;phastCons100way_vertebrate=0.651;phastCons100way_vertebrate_rankscore=0.279;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=9.985;SiPhy_29way_logOdds_rankscore=0.408;Interpro_domain=.;GTEx_V6p_gene=ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0155;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0142;ExAC_nontcga_NFE=0.0166;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0029;AF=0.0092;AF_popmax=0.0139;AF_male=0.0094;AF_female=0.0089;AF_raw=0.0092;AF_afr=0.0023;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0115;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0122;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0117786;Kaviar_AC=1821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546593;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128470838 rs3734972 C T 100 PASS AC=21;AF=0.110024;AN=214;NS=2504;DP=13918;EAS_AF=0.1964;AMR_AF=0.0908;AFR_AF=0.0938;EUR_AF=0.0825;SAS_AF=0.0849;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon1:c.C147T:p.H49H,FLNC:NM_001458:exon1:c.C147T:p.H49H;1000g2015aug_all=0.110024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734972;CLNALLELEID=134527;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0851;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.1086;ExAC_nontcga_AMR=0.0875;ExAC_nontcga_EAS=0.1779;ExAC_nontcga_FIN=0.0844;ExAC_nontcga_NFE=0.0844;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.0860;AF=0.0963;AF_popmax=0.1836;AF_male=0.0970;AF_female=0.0953;AF_raw=0.0965;AF_afr=0.0922;AF_sas=.;AF_amr=0.0967;AF_eas=0.1836;AF_nfe=0.0926;AF_fin=0.0850;AF_asj=0.0966;AF_oth=0.0919;non_topmed_AF_popmax=0.1796;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1663;Kaviar_AF=0.091907;Kaviar_AC=14209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000217783|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511284|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.926054;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128471084 rs140098814 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=11573;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140098814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.337e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0018;AF_male=0.0015;AF_female=0.0008;AF_raw=0.0012;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000217783|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511284|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.617837;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475583 rs137926567 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18892;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C556A:p.Q186K,FLNC:NM_001458:exon2:c.C556A:p.Q186K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137926567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_rankscore=0.270;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.341;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.468;MutationTaster_pred=D;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=-3.42;FATHMM_converted_rankscore=0.944;FATHMM_pred=D;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.439;VEST3_rankscore=0.494;MetaSVM_score=0.330;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.721;MetaLR_rankscore=0.904;MetaLR_pred=D;M-CAP_score=0.045;M-CAP_rankscore=0.620;M-CAP_pred=D;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.790;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.991;DANN_rankscore=0.531;fathmm-MKL_coding_score=0.845;fathmm-MKL_coding_rankscore=0.432;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.010;Eigen-PC-raw=0.192;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.63;GERP++_RS_rankscore=0.861;phyloP100way_vertebrate=2.159;phyloP100way_vertebrate_rankscore=0.417;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.659;SiPhy_29way_logOdds_rankscore=0.914;Interpro_domain=Calponin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.486e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925415;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475624 rs143942649 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18240;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C597T:p.A199A,FLNC:NM_001458:exon2:c.C597T:p.A199A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143942649;CLNALLELEID=192306;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0017;AF=0.0012;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904921;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475627 rs202105410 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18604;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C600T:p.P200P,FLNC:NM_001458:exon2:c.C600T:p.P200P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202105410;CLNALLELEID=368901;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.074;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904921;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477472 rs2291560 T C 100 PASS AC=26;AF=0.121805;AN=214;NS=2504;DP=15037;EAS_AF=0.121;AMR_AF=0.062;AFR_AF=0.1248;EUR_AF=0.1093;SAS_AF=0.1738;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T720C:p.I240I,FLNC:NM_001458:exon4:c.T720C:p.I240I;1000g2015aug_all=0.121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291560;CLNALLELEID=134542;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1110;ExAC_nontcga_ALL=0.1080;ExAC_nontcga_AFR=0.1292;ExAC_nontcga_AMR=0.0473;ExAC_nontcga_EAS=0.0900;ExAC_nontcga_FIN=0.1006;ExAC_nontcga_NFE=0.1103;ExAC_nontcga_OTH=0.1014;ExAC_nontcga_SAS=0.1426;AF=0.1162;AF_popmax=0.1250;AF_male=0.1170;AF_female=0.1151;AF_raw=0.1166;AF_afr=0.1250;AF_sas=.;AF_amr=0.0601;AF_eas=0.0977;AF_nfe=0.1202;AF_fin=0.0990;AF_asj=0.1172;AF_oth=0.1135;non_topmed_AF_popmax=0.1258;non_neuro_AF_popmax=0.1309;non_cancer_AF_popmax=.;controls_AF_popmax=0.1315;Kaviar_AF=0.108304;Kaviar_AC=16744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.885324;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477547 rs2291561 T C 100 PASS AC=26;AF=0.121006;AN=214;NS=2504;DP=14951;EAS_AF=0.121;AMR_AF=0.062;AFR_AF=0.1218;EUR_AF=0.1093;SAS_AF=0.1738;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T795C:p.G265G,FLNC:NM_001458:exon4:c.T795C:p.G265G;1000g2015aug_all=0.121006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291561;CLNALLELEID=134545;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1108;ExAC_nontcga_ALL=0.1077;ExAC_nontcga_AFR=0.1272;ExAC_nontcga_AMR=0.0468;ExAC_nontcga_EAS=0.0900;ExAC_nontcga_FIN=0.1005;ExAC_nontcga_NFE=0.1103;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.1424;AF=0.1153;AF_popmax=0.1223;AF_male=0.1163;AF_female=0.1141;AF_raw=0.1156;AF_afr=0.1223;AF_sas=.;AF_amr=0.0590;AF_eas=0.0974;AF_nfe=0.1201;AF_fin=0.0990;AF_asj=0.1172;AF_oth=0.1131;non_topmed_AF_popmax=0.1253;non_neuro_AF_popmax=0.1277;non_cancer_AF_popmax=.;controls_AF_popmax=0.1303;Kaviar_AF=0.107023;Kaviar_AC=16546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.871093;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477620 rs55907818 G A 100 PASS AC=24;AF=0.076877;AN=214;NS=2504;DP=14688;EAS_AF=0.0813;AMR_AF=0.0504;AFR_AF=0.0794;EUR_AF=0.0805;SAS_AF=0.0838;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55907818;CLNALLELEID=252577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0801;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0707;ExAC_nontcga_NFE=0.0882;ExAC_nontcga_OTH=0.0756;ExAC_nontcga_SAS=0.0889;AF=0.0830;AF_popmax=0.0897;AF_male=0.0841;AF_female=0.0816;AF_raw=0.0831;AF_afr=0.0788;AF_sas=.;AF_amr=0.0483;AF_eas=0.0795;AF_nfe=0.0897;AF_fin=0.0679;AF_asj=0.1172;AF_oth=0.0928;non_topmed_AF_popmax=0.0928;non_neuro_AF_popmax=0.0894;non_cancer_AF_popmax=.;controls_AF_popmax=0.0906;Kaviar_AF=0.0807363;Kaviar_AC=12482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.350675;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55907818;CLNALLELEID=252577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0801;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0707;ExAC_nontcga_NFE=0.0882;ExAC_nontcga_OTH=0.0756;ExAC_nontcga_SAS=0.0889;AF=0.0830;AF_popmax=0.0897;AF_male=0.0841;AF_female=0.0816;AF_raw=0.0831;AF_afr=0.0788;AF_sas=.;AF_amr=0.0483;AF_eas=0.0795;AF_nfe=0.0897;AF_fin=0.0679;AF_asj=0.1172;AF_oth=0.0928;non_topmed_AF_popmax=0.0928;non_neuro_AF_popmax=0.0894;non_cancer_AF_popmax=.;controls_AF_popmax=0.0906;Kaviar_AF=0.0807363;Kaviar_AC=12482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.350675;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477865 rs7787924 G A 100 PASS AC=8;AF=0.197484;AN=214;NS=2504;DP=18030;EAS_AF=0.3264;AMR_AF=0.1455;AFR_AF=0.3321;EUR_AF=0.0328;SAS_AF=0.089;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.197484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7787924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1249;AF_popmax=0.3089;AF_male=0.1280;AF_female=0.1210;AF_raw=0.1253;AF_afr=0.2930;AF_sas=.;AF_amr=0.1285;AF_eas=0.3089;AF_nfe=0.0396;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0680;non_topmed_AF_popmax=0.3054;non_neuro_AF_popmax=0.3089;non_cancer_AF_popmax=.;controls_AF_popmax=0.3103;Kaviar_AF=0.0165522;Kaviar_AC=2559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.449430;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128478103 rs2291562 C T 100 PASS AC=8;AF=0.196486;AN=214;NS=2504;DP=18284;EAS_AF=0.3224;AMR_AF=0.147;AFR_AF=0.3313;EUR_AF=0.0318;SAS_AF=0.089;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon6:c.C1032T:p.V344V,FLNC:NM_001458:exon6:c.C1032T:p.V344V;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291562;CLNALLELEID=134524;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0409;ExAC_nontcga_ALL=0.1019;ExAC_nontcga_AFR=0.2834;ExAC_nontcga_AMR=0.1690;ExAC_nontcga_EAS=0.3258;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0696;ExAC_nontcga_SAS=0.0839;AF=0.1250;AF_popmax=0.3073;AF_male=0.1283;AF_female=0.1209;AF_raw=0.1251;AF_afr=0.2943;AF_sas=.;AF_amr=0.1280;AF_eas=0.3073;AF_nfe=0.0397;AF_fin=0.0262;AF_asj=0.0207;AF_oth=0.0672;non_topmed_AF_popmax=0.3038;non_neuro_AF_popmax=0.3073;non_cancer_AF_popmax=.;controls_AF_popmax=0.3081;Kaviar_AF=0.0938798;Kaviar_AC=14514;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.811704;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128478605 rs113902193 C T 100 PASS AC=1;AF=0.0191693;AN=214;NS=2504;DP=13301;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0703;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113902193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0137;AF_popmax=0.0477;AF_male=0.0152;AF_female=0.0118;AF_raw=0.0138;AF_afr=0.0477;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0476;non_neuro_AF_popmax=0.0501;non_cancer_AF_popmax=.;controls_AF_popmax=0.0504;Kaviar_AF=0.0052251;Kaviar_AC=136;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480099 rs201810745 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19767;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1434T:p.R478R,FLNC:NM_001458:exon9:c.C1434T:p.R478R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201810745;CLNALLELEID=369193;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.837926;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480123 rs2291563 C A 100 PASS AC=3;AF=0.196086;AN=214;NS=2504;DP=20015;EAS_AF=0.3125;AMR_AF=0.1282;AFR_AF=0.3578;EUR_AF=0.0199;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1458A:p.P486P,FLNC:NM_001458:exon9:c.C1458A:p.P486P;1000g2015aug_all=0.196086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291563;CLNALLELEID=134526;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0179;ExAC_nontcga_ALL=0.0864;ExAC_nontcga_AFR=0.3067;ExAC_nontcga_AMR=0.1394;ExAC_nontcga_EAS=0.3178;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0208;ExAC_nontcga_OTH=0.0638;ExAC_nontcga_SAS=0.0700;AF=0.1199;AF_popmax=0.3183;AF_male=0.1231;AF_female=0.1158;AF_raw=0.1200;AF_afr=0.3183;AF_sas=.;AF_amr=0.1026;AF_eas=0.3026;AF_nfe=0.0192;AF_fin=0.0227;AF_asj=0.0103;AF_oth=0.0516;non_topmed_AF_popmax=0.3194;non_neuro_AF_popmax=0.3094;non_cancer_AF_popmax=.;controls_AF_popmax=0.3110;Kaviar_AF=0.0789058;Kaviar_AC=12199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.845743;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480229 rs181134489 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18136;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181134489;CLNALLELEID=252579;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0035;AF_popmax=0.0062;AF_male=0.0038;AF_female=0.0032;AF_raw=0.0035;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0062;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.189887;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480620 rs182845462 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19804;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.T1568C:p.V523A,FLNC:NM_001458:exon10:c.T1568C:p.V523A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182845462;CLNALLELEID=406967;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_score_rankscore=0.569;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.7;PROVEAN_converted_rankscore=0.576;PROVEAN_pred=D;VEST3_score=0.733;VEST3_rankscore=0.731;MetaSVM_score=0.625;MetaSVM_rankscore=0.922;MetaSVM_pred=D;MetaLR_score=0.746;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=0.182;M-CAP_rankscore=0.857;M-CAP_pred=D;REVEL_score=0.562;REVEL_rankscore=0.823;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.290;CADD_raw_rankscore=0.575;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.717;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.495;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=6.276;phyloP100way_vertebrate_rankscore=0.724;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.410;phastCons20way_mammalian_rankscore=0.256;SiPhy_29way_logOdds=15.232;SiPhy_29way_logOdds_rankscore=0.730;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.843246;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480666 rs76046880 C T 100 PASS AC=4;AF=0.0159744;AN=214;NS=2504;DP=18832;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0053;EUR_AF=0.0388;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.C1614T:p.Y538Y,FLNC:NM_001458:exon10:c.C1614T:p.Y538Y;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76046880;CLNALLELEID=134528;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0347;ExAC_nontcga_ALL=0.0315;ExAC_nontcga_AFR=0.0114;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0400;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0279;AF=0.0344;AF_popmax=0.0445;AF_male=0.0336;AF_female=0.0355;AF_raw=0.0346;AF_afr=0.0101;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0445;AF_fin=0.0676;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0482;non_neuro_AF_popmax=0.0444;non_cancer_AF_popmax=.;controls_AF_popmax=0.0561;Kaviar_AF=0.0309698;Kaviar_AC=4788;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.853672;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480791 rs2291564 C G 100 PASS AC=27;AF=0.298123;AN=214;NS=2504;DP=17616;EAS_AF=0.4018;AMR_AF=0.1744;AFR_AF=0.4667;EUR_AF=0.1143;SAS_AF=0.2403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.298123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1963;AF_popmax=0.4236;AF_male=0.2021;AF_female=0.1890;AF_raw=0.1963;AF_afr=0.4236;AF_sas=.;AF_amr=0.1663;AF_eas=0.3574;AF_nfe=0.0914;AF_fin=0.0616;AF_asj=0.0729;AF_oth=0.1225;non_topmed_AF_popmax=0.4243;non_neuro_AF_popmax=0.4202;non_cancer_AF_popmax=.;controls_AF_popmax=0.4173;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480793 rs566313575 GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 100 PASS AC=4;AF=0.019369;AN=214;NS=2504;DP=23473;EAS_AF=0.001;AMR_AF=0.0115;AFR_AF=0.0189;EUR_AF=0.0388;SAS_AF=0.0245;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566313575;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0385;AF_popmax=0.0442;AF_male=0.0379;AF_female=0.0392;AF_raw=0.0389;AF_afr=0.0257;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0442;AF_fin=0.0671;AF_asj=0.0208;AF_oth=0.0443;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0440;non_cancer_AF_popmax=.;controls_AF_popmax=0.0565;Kaviar_AF=0.0085677;Kaviar_AC=223;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.612602;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566313575;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0385;AF_popmax=0.0442;AF_male=0.0379;AF_female=0.0392;AF_raw=0.0389;AF_afr=0.0257;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0442;AF_fin=0.0671;AF_asj=0.0208;AF_oth=0.0443;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0440;non_cancer_AF_popmax=.;controls_AF_popmax=0.0565;Kaviar_AF=0.0085677;Kaviar_AC=223;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.612602;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481035 rs138716837 G T 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=15336;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.003;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138716837;CLNALLELEID=274749;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0065;ExAC_nontcga_SAS=0.0009;AF=0.0010;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0023;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008409;Kaviar_AC=130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.198328;ALLELE_END GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481060 rs142756348 G A 100 PASS AC=6;AF=0.00459265;AN=214;NS=2504;DP=15154;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142756348;CLNALLELEID=252580;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0075;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0084;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0046;AF=0.0048;AF_popmax=0.0078;AF_male=0.0052;AF_female=0.0044;AF_raw=0.0048;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0052069;Kaviar_AC=805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.235678;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481196 rs2291565 T C 100 PASS AC=8;AF=0.264976;AN=214;NS=2504;DP=15076;EAS_AF=0.378;AMR_AF=0.1585;AFR_AF=0.4493;EUR_AF=0.0358;SAS_AF=0.2106;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291565;CLNALLELEID=252581;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.1302;ExAC_nontcga_AFR=0.4025;ExAC_nontcga_AMR=0.1766;ExAC_nontcga_EAS=0.3617;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0456;ExAC_nontcga_OTH=0.0809;ExAC_nontcga_SAS=0.1734;AF=0.1652;AF_popmax=0.4227;AF_male=0.1699;AF_female=0.1593;AF_raw=0.1650;AF_afr=0.4227;AF_sas=.;AF_amr=0.1450;AF_eas=0.3478;AF_nfe=0.0428;AF_fin=0.0265;AF_asj=0.0208;AF_oth=0.0812;non_topmed_AF_popmax=0.4233;non_neuro_AF_popmax=0.4219;non_cancer_AF_popmax=.;controls_AF_popmax=0.4192;Kaviar_AF=0.117418;Kaviar_AC=18153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.552168;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481312 rs12536635 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18458;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.G1902A:p.E634E,FLNC:NM_001458:exon12:c.G1902A:p.E634E;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12536635;CLNALLELEID=191201;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0037;AF_popmax=0.0064;AF_male=0.0040;AF_female=0.0032;AF_raw=0.0037;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0064;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0061;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.917557;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481386 rs576402053 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18891;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.T1976G:p.L659R,FLNC:NM_001458:exon12:c.T1976G:p.L659R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576402053;CLNALLELEID=274249;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.824;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.53;Polyphen2_HDIV_rankscore=0.358;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.407;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.399;LRT_pred=N;MutationTaster_score=0.899;MutationTaster_converted_rankscore=0.277;MutationTaster_pred=N;MutationAssessor_score=0.42;MutationAssessor_score_rankscore=0.125;MutationAssessor_pred=N;FATHMM_score=-2.87;FATHMM_converted_rankscore=0.915;FATHMM_pred=D;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=-0.462;MetaSVM_rankscore=0.700;MetaSVM_pred=T;MetaLR_score=0.465;MetaLR_rankscore=0.793;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.662;M-CAP_pred=D;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=0.903;CADD_raw_rankscore=0.180;CADD_phred=10.10;DANN_score=0.700;DANN_rankscore=0.089;fathmm-MKL_coding_score=0.759;fathmm-MKL_coding_rankscore=0.369;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.696;Eigen-PC-raw=-0.544;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.79;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=1.845;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.158;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=3.523;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0027;AF=3.188e-05;AF_popmax=.;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.909324;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481578 rs34972246 A C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=20237;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon13:c.A2078C:p.D693A,FLNC:NM_001458:exon13:c.A2078C:p.D693A;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34972246;CLNALLELEID=252582;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.315;MutationAssessor_score_rankscore=0.908;MutationAssessor_pred=M;FATHMM_score=-1.98;FATHMM_converted_rankscore=0.853;FATHMM_pred=D;PROVEAN_score=-7.01;PROVEAN_converted_rankscore=0.938;PROVEAN_pred=D;VEST3_score=0.565;VEST3_rankscore=0.598;MetaSVM_score=0.786;MetaSVM_rankscore=0.942;MetaSVM_pred=D;MetaLR_score=0.782;MetaLR_rankscore=0.926;MetaLR_pred=D;M-CAP_score=0.352;M-CAP_rankscore=0.923;M-CAP_pred=D;REVEL_score=0.755;REVEL_rankscore=0.917;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.252;CADD_raw_rankscore=0.863;CADD_phred=28.9;DANN_score=0.995;DANN_rankscore=0.693;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.663;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.899;Eigen-PC-raw=0.828;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=5.57;GERP++_RS_rankscore=0.840;phyloP100way_vertebrate=5.855;phyloP100way_vertebrate_rankscore=0.690;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.731;SiPhy_29way_logOdds_rankscore=0.775;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0015;AF=0.0032;AF_popmax=0.0040;AF_male=0.0033;AF_female=0.0030;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0033699;Kaviar_AC=521;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1414129|N/A|E2F1|PAZAR,OREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911369;ALLELE_END GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482258 rs117577125 T C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=16471;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117577125;CLNALLELEID=252583;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0058;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0068;ExAC_nontcga_SAS=0.0019;AF=0.0032;AF_popmax=0.0055;AF_male=0.0031;AF_female=0.0033;AF_raw=0.0032;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0006;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0036028;Kaviar_AC=557;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1807084|N/A|RBL2|PAZAR,OREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.682487;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482440 rs2291566 C G 100 PASS AC=9;AF=0.267372;AN=214;NS=2504;DP=13765;EAS_AF=0.379;AMR_AF=0.1628;AFR_AF=0.4425;EUR_AF=0.0497;SAS_AF=0.2137;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.267372;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291566;CLNALLELEID=229550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0515;ExAC_nontcga_ALL=0.1357;ExAC_nontcga_AFR=0.4055;ExAC_nontcga_AMR=0.1786;ExAC_nontcga_EAS=0.3602;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0541;ExAC_nontcga_OTH=0.0870;ExAC_nontcga_SAS=0.1707;AF=0.1719;AF_popmax=0.4199;AF_male=0.1757;AF_female=0.1672;AF_raw=0.1719;AF_afr=0.4199;AF_sas=.;AF_amr=0.1486;AF_eas=0.3453;AF_nfe=0.0539;AF_fin=0.0400;AF_asj=0.0241;AF_oth=0.0921;non_topmed_AF_popmax=0.4209;non_neuro_AF_popmax=0.4179;non_cancer_AF_popmax=.;controls_AF_popmax=0.4147;Kaviar_AF=0.124352;Kaviar_AC=19225;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.717984;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482806 rs111958241 G T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=12038;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111958241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0532;ExAC_nontcga_AFR=0.0085;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1411;ExAC_nontcga_NFE=0.0691;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.0413;AF=0.0334;AF_popmax=0.0447;AF_male=0.0324;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0675;AF_asj=0.0276;AF_oth=0.0435;non_topmed_AF_popmax=0.0486;non_neuro_AF_popmax=0.0447;non_cancer_AF_popmax=.;controls_AF_popmax=0.0570;Kaviar_AF=0.0295727;Kaviar_AC=4572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111958241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0532;ExAC_nontcga_AFR=0.0085;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1411;ExAC_nontcga_NFE=0.0691;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.0413;AF=0.0334;AF_popmax=0.0447;AF_male=0.0324;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0675;AF_asj=0.0276;AF_oth=0.0435;non_topmed_AF_popmax=0.0486;non_neuro_AF_popmax=0.0447;non_cancer_AF_popmax=.;controls_AF_popmax=0.0570;Kaviar_AF=0.0295727;Kaviar_AC=4572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482834 rs71581921 C T 100 PASS AC=5;AF=0.00339457;AN=214;NS=2504;DP=13901;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71581921;CLNALLELEID=252589;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0017;AF=0.0085;AF_popmax=0.0104;AF_male=0.0084;AF_female=0.0088;AF_raw=0.0085;AF_afr=0.0030;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0173;AF_asj=0.0241;AF_oth=0.0110;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.784910;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +7 128482835 rs78086167 C T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=14148;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78086167;CLNALLELEID=252590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0362;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0894;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0358;ExAC_nontcga_SAS=0.0348;AF=0.0335;AF_popmax=0.0450;AF_male=0.0325;AF_female=0.0348;AF_raw=0.0336;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0450;AF_fin=0.0677;AF_asj=0.0276;AF_oth=0.0433;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0572;Kaviar_AF=0.0304265;Kaviar_AC=4704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.784910;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128483227 rs2291567 T C 100 PASS AC=34;AF=0.361821;AN=214;NS=2504;DP=18528;EAS_AF=0.4901;AMR_AF=0.2219;AFR_AF=0.5408;EUR_AF=0.1561;SAS_AF=0.2986;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.361821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1647;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2808;AF_popmax=0.5181;AF_male=0.2855;AF_female=0.2748;AF_raw=0.2812;AF_afr=0.5181;AF_sas=.;AF_amr=0.2080;AF_eas=0.4556;AF_nfe=0.1734;AF_fin=0.1387;AF_asj=0.1414;AF_oth=0.2020;non_topmed_AF_popmax=0.5196;non_neuro_AF_popmax=0.5219;non_cancer_AF_popmax=.;controls_AF_popmax=0.5195;Kaviar_AF=0.223336;Kaviar_AC=5813;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128483635 rs146715204 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18914;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146715204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.127e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511287|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.811524;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484373 rs528634077 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17775;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528634077;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511287|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.841478;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484816 rs3734973 A G 100 PASS AC=34;AF=0.379992;AN=214;NS=2504;DP=19215;EAS_AF=0.4891;AMR_AF=0.2248;AFR_AF=0.6082;EUR_AF=0.1551;SAS_AF=0.3006;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.A3297G:p.V1099V,FLNC:NM_001458:exon21:c.A3297G:p.V1099V;1000g2015aug_all=0.379992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734973;CLNALLELEID=134530;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1648;ExAC_nontcga_ALL=0.2365;ExAC_nontcga_AFR=0.5544;ExAC_nontcga_AMR=0.2245;ExAC_nontcga_EAS=0.4564;ExAC_nontcga_FIN=0.1367;ExAC_nontcga_NFE=0.1635;ExAC_nontcga_OTH=0.1826;ExAC_nontcga_SAS=0.2603;AF=0.2927;AF_popmax=0.5630;AF_male=0.2989;AF_female=0.2848;AF_raw=0.2929;AF_afr=0.5630;AF_sas=.;AF_amr=0.2182;AF_eas=0.4535;AF_nfe=0.1725;AF_fin=0.1378;AF_asj=0.1414;AF_oth=0.2026;non_topmed_AF_popmax=0.5643;non_neuro_AF_popmax=0.5661;non_cancer_AF_popmax=.;controls_AF_popmax=0.5632;Kaviar_AF=0.227856;Kaviar_AC=35227;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911154;ALLELE_END GT 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484977 rs138663492 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19819;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.T3458G:p.F1153C,FLNC:NM_001458:exon21:c.T3458G:p.F1153C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138663492;CLNALLELEID=361643;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.254;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.919;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_score_rankscore=0.547;MutationAssessor_pred=M;FATHMM_score=-1.8;FATHMM_converted_rankscore=0.839;FATHMM_pred=D;PROVEAN_score=-5.01;PROVEAN_converted_rankscore=0.842;PROVEAN_pred=D;VEST3_score=0.754;VEST3_rankscore=0.749;MetaSVM_score=0.298;MetaSVM_rankscore=0.875;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.285;M-CAP_rankscore=0.904;M-CAP_pred=D;REVEL_score=0.749;REVEL_rankscore=0.915;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.089;CADD_raw_rankscore=0.431;CADD_phred=22.5;DANN_score=0.984;DANN_rankscore=0.406;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.884;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.615;Eigen-PC-raw=0.582;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=15.714;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.577e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.922e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.369e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.903659;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128485240 rs146953558 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18972;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.C3721T:p.R1241C,FLNC:NM_001458:exon21:c.C3721T:p.R1241C;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146953558;CLNALLELEID=252593;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.84;Polyphen2_HVAR_rankscore=0.584;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.431;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.22;MutationAssessor_score_rankscore=0.631;MutationAssessor_pred=M;FATHMM_score=-2.89;FATHMM_converted_rankscore=0.916;FATHMM_pred=D;PROVEAN_score=-4.02;PROVEAN_converted_rankscore=0.745;PROVEAN_pred=D;VEST3_score=0.579;VEST3_rankscore=0.609;MetaSVM_score=0.668;MetaSVM_rankscore=0.928;MetaSVM_pred=D;MetaLR_score=0.789;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.563;REVEL_rankscore=0.823;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.769;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.632;fathmm-MKL_coding_rankscore=0.317;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.153;Eigen-PC-raw=0.166;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=0.819;phyloP100way_vertebrate_rankscore=0.268;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=19.527;SiPhy_29way_logOdds_rankscore=0.952;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0108;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0024;AF=0.0080;AF_popmax=0.0116;AF_male=0.0079;AF_female=0.0080;AF_raw=0.0080;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0138;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0120;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0121;Kaviar_AF=0.0064035;Kaviar_AC=990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.927642;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486091 rs34180031 C T 100 PASS AC=4;AF=0.0197684;AN=214;NS=2504;DP=14475;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0197;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon22:c.C3838T:p.L1280L,FLNC:NM_001458:exon22:c.C3838T:p.L1280L;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34180031;CLNALLELEID=134533;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0345;ExAC_nontcga_ALL=0.0332;ExAC_nontcga_AFR=0.0232;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0710;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0308;ExAC_nontcga_SAS=0.0316;AF=0.0392;AF_popmax=0.0451;AF_male=0.0386;AF_female=0.0400;AF_raw=0.0392;AF_afr=0.0260;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0451;AF_fin=0.0676;AF_asj=0.0278;AF_oth=0.0470;non_topmed_AF_popmax=0.0491;non_neuro_AF_popmax=0.0450;non_cancer_AF_popmax=.;controls_AF_popmax=0.0575;Kaviar_AF=0.0322117;Kaviar_AC=4980;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.724262;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486252 rs138334624 T TGGGCAGGTGGGCAGGGCC 100 PASS AC=8;AF=0.158147;AN=214;NS=2504;DP=14451;EAS_AF=0.3224;AMR_AF=0.1311;AFR_AF=0.1959;EUR_AF=0.0318;SAS_AF=0.0869;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.158147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138334624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.0911;ExAC_nontcga_AFR=0.1706;ExAC_nontcga_AMR=0.1613;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0619;ExAC_nontcga_SAS=0.0836;AF=0.0932;AF_popmax=0.2972;AF_male=0.0953;AF_female=0.0905;AF_raw=0.0933;AF_afr=0.1789;AF_sas=.;AF_amr=0.1274;AF_eas=0.2972;AF_nfe=0.0410;AF_fin=0.0279;AF_asj=0.0207;AF_oth=0.0572;non_topmed_AF_popmax=0.2947;non_neuro_AF_popmax=0.2972;non_cancer_AF_popmax=.;controls_AF_popmax=0.3;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486363 rs34373805 C T 100 PASS AC=35;AF=0.346046;AN=214;NS=2504;DP=15949;EAS_AF=0.4335;AMR_AF=0.2291;AFR_AF=0.6006;EUR_AF=0.1511;SAS_AF=0.1953;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C3973T:p.L1325L,FLNC:NM_001458:exon23:c.C3973T:p.L1325L;1000g2015aug_all=0.346046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34373805;CLNALLELEID=134534;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1622;ExAC_nontcga_ALL=0.2310;ExAC_nontcga_AFR=0.5514;ExAC_nontcga_AMR=0.2248;ExAC_nontcga_EAS=0.4183;ExAC_nontcga_FIN=0.1685;ExAC_nontcga_NFE=0.1718;ExAC_nontcga_OTH=0.1894;ExAC_nontcga_SAS=0.2018;AF=0.2922;AF_popmax=0.5581;AF_male=0.2984;AF_female=0.2846;AF_raw=0.2926;AF_afr=0.5581;AF_sas=.;AF_amr=0.2158;AF_eas=0.4100;AF_nfe=0.1723;AF_fin=0.1618;AF_asj=0.1655;AF_oth=0.2153;non_topmed_AF_popmax=0.5599;non_neuro_AF_popmax=0.5611;non_cancer_AF_popmax=.;controls_AF_popmax=0.5568;Kaviar_AF=0.221077;Kaviar_AC=34179;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.24053::-0.266123;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.817214;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486412 rs149641783 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16953;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.G4022A:p.R1341Q,FLNC:NM_001458:exon23:c.G4022A:p.R1341Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149641783;CLNALLELEID=192902;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.572;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.559;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.451;MutationTaster_pred=D;MutationAssessor_score=1.76;MutationAssessor_score_rankscore=0.459;MutationAssessor_pred=L;FATHMM_score=-1.89;FATHMM_converted_rankscore=0.846;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.587;VEST3_rankscore=0.615;MetaSVM_score=-0.191;MetaSVM_rankscore=0.779;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.255;M-CAP_rankscore=0.893;M-CAP_pred=D;REVEL_score=0.487;REVEL_rankscore=0.778;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.915;CADD_raw_rankscore=0.812;CADD_phred=27.5;DANN_score=0.992;DANN_rankscore=0.540;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.718;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.236;Eigen-PC-raw=0.354;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=8.125;phyloP100way_vertebrate_rankscore=0.894;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=18.451;SiPhy_29way_logOdds_rankscore=0.906;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0001;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.869129;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 128486446 rs75770585 C T 100 PASS AC=8;AF=0.160543;AN=214;NS=2504;DP=17535;EAS_AF=0.3234;AMR_AF=0.1354;AFR_AF=0.2012;EUR_AF=0.0328;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C4056T:p.R1352R,FLNC:NM_001458:exon23:c.C4056T:p.R1352R;1000g2015aug_all=0.160543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75770585;CLNALLELEID=134535;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0928;ExAC_nontcga_AFR=0.1748;ExAC_nontcga_AMR=0.1655;ExAC_nontcga_EAS=0.3285;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0428;ExAC_nontcga_OTH=0.0643;ExAC_nontcga_SAS=0.0836;AF=0.0936;AF_popmax=0.3067;AF_male=0.0959;AF_female=0.0907;AF_raw=0.0937;AF_afr=0.1817;AF_sas=.;AF_amr=0.1274;AF_eas=0.3067;AF_nfe=0.0395;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0609;non_topmed_AF_popmax=0.3045;non_neuro_AF_popmax=0.3067;non_cancer_AF_popmax=.;controls_AF_popmax=0.3070;Kaviar_AF=0.0846626;Kaviar_AC=13089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.751165;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486579 rs117927520 C T 100 PASS AC=2;AF=0.0091853;AN=214;NS=2504;DP=18245;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0023;EUR_AF=0.0219;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117927520;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0144;AF_popmax=0.0191;AF_male=0.0146;AF_female=0.0142;AF_raw=0.0145;AF_afr=0.0033;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0191;AF_fin=0.0279;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0201;non_neuro_AF_popmax=0.0191;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0028784;Kaviar_AC=445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.382266;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128487866 rs2249128 T C 100 PASS AC=214;AF=0.990615;AN=214;NS=2504;DP=15908;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.9675;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D;1000g2015aug_all=0.990615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2249128;CLNALLELEID=229552;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9974;ExAC_nontcga_AFR=0.9699;ExAC_nontcga_AMR=0.9988;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9999;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=0.9999;AF=0.9916;AF_popmax=1;AF_male=0.9908;AF_female=0.9926;AF_raw=0.9916;AF_afr=0.9706;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.942122;Kaviar_AC=145654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.845580;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 128487893 rs2291568 G A 100 PASS AC=8;AF=0.257788;AN=214;NS=2504;DP=15695;EAS_AF=0.378;AMR_AF=0.1556;AFR_AF=0.4228;EUR_AF=0.0358;SAS_AF=0.2117;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.G4431A:p.L1477L,FLNC:NM_001458:exon25:c.G4431A:p.L1477L;1000g2015aug_all=0.257788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291568;CLNALLELEID=134536;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1276;ExAC_nontcga_AFR=0.3780;ExAC_nontcga_AMR=0.1757;ExAC_nontcga_EAS=0.3617;ExAC_nontcga_FIN=0.0235;ExAC_nontcga_NFE=0.0455;ExAC_nontcga_OTH=0.0804;ExAC_nontcga_SAS=0.1701;AF=0.1571;AF_popmax=0.3950;AF_male=0.1612;AF_female=0.1519;AF_raw=0.1574;AF_afr=0.3950;AF_sas=.;AF_amr=0.1427;AF_eas=0.3426;AF_nfe=0.0426;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0801;non_topmed_AF_popmax=0.3957;non_neuro_AF_popmax=0.3925;non_cancer_AF_popmax=.;controls_AF_popmax=0.3899;Kaviar_AF=0.115917;Kaviar_AC=17921;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.841626;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488072 rs565243603 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15742;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon26:c.C4530T:p.D1510D,FLNC:NM_001458:exon26:c.C4530T:p.D1510D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565243603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.475e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.886e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=0.0006;AF_male=0;AF_female=7.187e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.796056;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488734 rs2291569 G A 100 PASS AC=21;AF=0.0625;AN=214;NS=2504;DP=15225;EAS_AF=0.1111;AMR_AF=0.0447;AFR_AF=0.0106;EUR_AF=0.0765;SAS_AF=0.0808;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon27:c.G4700A:p.R1567Q,FLNC:NM_001458:exon27:c.G4700A:p.R1567Q;1000g2015aug_all=0.0625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291569;CLNALLELEID=134537;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.067;SIFT_converted_rankscore=0.433;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.469;MutationTaster_pred=P;MutationAssessor_score=3.005;MutationAssessor_score_rankscore=0.862;MutationAssessor_pred=M;FATHMM_score=-2.08;FATHMM_converted_rankscore=0.860;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.17;VEST3_rankscore=0.241;MetaSVM_score=-0.467;MetaSVM_rankscore=0.699;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.340;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.383;REVEL_rankscore=0.704;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.924;CADD_raw_rankscore=0.662;CADD_phred=25.0;DANN_score=0.999;DANN_rankscore=0.973;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.455;Eigen-PC-raw=0.334;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=2.514;phyloP100way_vertebrate_rankscore=0.449;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.090;phastCons100way_vertebrate_rankscore=0.224;phastCons20way_mammalian=0.015;phastCons20way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=12.724;SiPhy_29way_logOdds_rankscore=0.564;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000128596.12;GTEx_V6p_tissue=Brain_Cerebellum;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0850;ExAC_nontcga_ALL=0.0750;ExAC_nontcga_AFR=0.0198;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.0933;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0871;ExAC_nontcga_OTH=0.0712;ExAC_nontcga_SAS=0.0849;AF=0.0676;AF_popmax=0.1080;AF_male=0.0681;AF_female=0.0669;AF_raw=0.0675;AF_afr=0.0214;AF_sas=.;AF_amr=0.0401;AF_eas=0.1080;AF_nfe=0.0889;AF_fin=0.0679;AF_asj=0.1138;AF_oth=0.0847;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.1080;non_cancer_AF_popmax=.;controls_AF_popmax=0.1018;Kaviar_AF=0.0760145;Kaviar_AC=11752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.753541;ALLELE_END GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488800 rs74811088 G A 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=14060;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74811088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0334;AF_popmax=0.0449;AF_male=0.0326;AF_female=0.0344;AF_raw=0.0335;AF_afr=0.0060;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0449;AF_fin=0.0674;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0448;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0306206;Kaviar_AC=4734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.458778;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74811088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0334;AF_popmax=0.0449;AF_male=0.0326;AF_female=0.0344;AF_raw=0.0335;AF_afr=0.0060;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0449;AF_fin=0.0674;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0448;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0306206;Kaviar_AC=4734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.458778;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490012 rs372184893 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16826;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372184893;CLNALLELEID=252597;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.969e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0013;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR,OREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.629189;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490553 rs13227216 T C 100 PASS AC=37;AF=0.403355;AN=214;NS=2504;DP=20888;EAS_AF=0.4891;AMR_AF=0.2478;AFR_AF=0.649;EUR_AF=0.1799;SAS_AF=0.3231;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13227216;CLNALLELEID=252600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1900;ExAC_nontcga_ALL=0.2659;ExAC_nontcga_AFR=0.6013;ExAC_nontcga_AMR=0.2354;ExAC_nontcga_EAS=0.4543;ExAC_nontcga_FIN=0.1905;ExAC_nontcga_NFE=0.1952;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.2906;AF=0.3310;AF_popmax=0.6126;AF_male=0.3365;AF_female=0.3241;AF_raw=0.3312;AF_afr=0.6126;AF_sas=.;AF_amr=0.2352;AF_eas=0.4511;AF_nfe=0.2066;AF_fin=0.1901;AF_asj=0.1655;AF_oth=0.2399;non_topmed_AF_popmax=0.6146;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6182;Kaviar_AF=0.25347;Kaviar_AC=39187;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.287879::-0.253088;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490926 rs140857707 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19492;EAS_AF=0.002;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon32:c.C5369T:p.T1790M,FLNC:NM_001458:exon33:c.C5468T:p.T1823M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140857707;CLNALLELEID=561488;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.013;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.985;MutationAssessor_score_rankscore=0.859;MutationAssessor_pred=M;FATHMM_score=-2.06;FATHMM_converted_rankscore=0.859;FATHMM_pred=D;PROVEAN_score=-5.19;PROVEAN_converted_rankscore=0.836;PROVEAN_pred=D;VEST3_score=0.799;VEST3_rankscore=0.789;MetaSVM_score=0.699;MetaSVM_rankscore=0.932;MetaSVM_pred=D;MetaLR_score=0.784;MetaLR_rankscore=0.927;MetaLR_pred=D;M-CAP_score=0.221;M-CAP_rankscore=0.878;M-CAP_pred=D;REVEL_score=0.617;REVEL_rankscore=0.853;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.676;CADD_raw_rankscore=0.774;CADD_phred=26.7;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.927;fathmm-MKL_coding_rankscore=0.561;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.793;Eigen-PC-raw=0.755;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=4.052;phyloP100way_vertebrate_rankscore=0.569;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=19.447;SiPhy_29way_logOdds_rankscore=0.948;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.735e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0001;AF_popmax=0.0002;AF_male=5.739e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911903;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128491497 rs79790270 C T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=19785;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79790270;CLNALLELEID=252601;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0335;AF_popmax=0.0450;AF_male=0.0326;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0061;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0450;AF_fin=0.0676;AF_asj=0.0276;AF_oth=0.0442;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0308534;Kaviar_AC=4770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588695;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128491603 rs3816884 T C 100 PASS AC=8;AF=0.288938;AN=214;NS=2504;DP=20776;EAS_AF=0.378;AMR_AF=0.1671;AFR_AF=0.534;EUR_AF=0.0368;SAS_AF=0.2117;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon34:c.T5664C:p.T1888T,FLNC:NM_001458:exon35:c.T5763C:p.T1921T;1000g2015aug_all=0.288938;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816884;CLNALLELEID=134540;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0448;ExAC_nontcga_ALL=0.1371;ExAC_nontcga_AFR=0.4739;ExAC_nontcga_AMR=0.1800;ExAC_nontcga_EAS=0.3615;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.1697;AF=0.1840;AF_popmax=0.4890;AF_male=0.1900;AF_female=0.1764;AF_raw=0.1843;AF_afr=0.4890;AF_sas=.;AF_amr=0.1557;AF_eas=0.3442;AF_nfe=0.0430;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0855;non_topmed_AF_popmax=0.4899;non_neuro_AF_popmax=0.4950;non_cancer_AF_popmax=.;controls_AF_popmax=0.4934;Kaviar_AF=0.126001;Kaviar_AC=19480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.571013;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128492817 rs117653869 G A 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=17119;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117653869;CLNALLELEID=252603;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0021;AF=0.0065;AF_popmax=0.0103;AF_male=0.0062;AF_female=0.0070;AF_raw=0.0066;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0037;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.608845;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117653869;CLNALLELEID=252603;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0021;AF=0.0065;AF_popmax=0.0103;AF_male=0.0062;AF_female=0.0070;AF_raw=0.0066;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0037;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.608845;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128492825 rs12530507 G A 100 PASS AC=1;AF=0.00479233;AN=214;NS=2504;DP=17038;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12530507;CLNALLELEID=252604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0014;AF=0.0125;AF_popmax=0.0180;AF_male=0.0132;AF_female=0.0116;AF_raw=0.0125;AF_afr=0.0047;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0150;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0170;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0127295;Kaviar_AC=1968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.784642;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12530507;CLNALLELEID=252604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0014;AF=0.0125;AF_popmax=0.0180;AF_male=0.0132;AF_female=0.0116;AF_raw=0.0125;AF_afr=0.0047;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0150;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0170;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0127295;Kaviar_AC=1968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.784642;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128495338 rs3816885 C T 100 PASS AC=9;AF=0.258786;AN=214;NS=2504;DP=18935;EAS_AF=0.378;AMR_AF=0.1571;AFR_AF=0.4244;EUR_AF=0.0378;SAS_AF=0.2117;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon42:c.C7122T:p.D2374D,FLNC:NM_001458:exon43:c.C7221T:p.D2407D;1000g2015aug_all=0.258786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816885;CLNALLELEID=134543;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.1276;ExAC_nontcga_AFR=0.3800;ExAC_nontcga_AMR=0.1753;ExAC_nontcga_EAS=0.3594;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.1702;AF=0.1573;AF_popmax=0.3964;AF_male=0.1616;AF_female=0.1519;AF_raw=0.1577;AF_afr=0.3964;AF_sas=.;AF_amr=0.1427;AF_eas=0.3438;AF_nfe=0.0424;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0790;non_topmed_AF_popmax=0.3973;non_neuro_AF_popmax=0.3936;non_cancer_AF_popmax=.;controls_AF_popmax=0.3913;Kaviar_AF=0.117101;Kaviar_AC=18104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788221;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128497040 rs553998797 C T 100 PASS AC=1;AF=0.00638978;AN=214;NS=2504;DP=18913;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0245;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553998797;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0082;AF_male=0.0048;AF_female=0.0052;AF_raw=0.0049;AF_afr=0.0015;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0014;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0077;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0014489;Kaviar_AC=224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.648942;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128498228 rs368849358 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19214;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon46:c.C7848T:p.F2616F,FLNC:NM_001458:exon47:c.C7947T:p.F2649F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368849358;CLNALLELEID=252605;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0008;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.884349;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128498630 rs538213357;rs145777348 TACACAC TACAC,T 100 PASS AC=16,25;AF=0.209864,0.0890575;AN=214;NS=2504;DP=17945;EAS_AF=0.3284,0.1101;AMR_AF=0.1686,0.0548;AFR_AF=0.2663,0.0832;EUR_AF=0.0875,0.0924;SAS_AF=0.1667,0.0961;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FLNC;GeneDetail.refGene=NM_001458:c.*58_*59delAC\x3bNM_001127487:c.*58_*59delAC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.391891;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FLNC;GeneDetail.refGene=NM_001458:c.*54_*59delACACAC\x3bNM_001127487:c.*54_*59delACACAC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0890575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145777348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1025;AF_popmax=0.1107;AF_male=0.1037;AF_female=0.1011;AF_raw=0.0951;AF_afr=0.0862;AF_sas=.;AF_amr=0.0689;AF_eas=0.1107;AF_nfe=0.1095;AF_fin=0.1138;AF_asj=0.1328;AF_oth=0.1154;non_topmed_AF_popmax=0.1137;non_neuro_AF_popmax=0.1107;non_cancer_AF_popmax=.;controls_AF_popmax=0.1108;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.391891;ALLELE_END GT 0|0 0|0 2|2 1|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 2|0 0|2 2|0 2|0 0|0 0|1 0|0 2|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 2|0 0|0 0|2 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|2 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 1|0 0|0 0|0 0|0 0|0 0|0 0|2 2|0 2|2 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|2 1|0 0|0 0|0 0|1 0|0 0|2 0|0 0|1 0|0 0|0 0|2 0|0 0|0 0|0 0|0 2|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136699781 rs143842239 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.G169A:p.V57I,CHRM2:NM_001006627:exon3:c.G169A:p.V57I,CHRM2:NM_001006628:exon3:c.G169A:p.V57I,CHRM2:NM_001006632:exon3:c.G169A:p.V57I,CHRM2:NM_000739:exon4:c.G169A:p.V57I,CHRM2:NM_001006630:exon4:c.G169A:p.V57I,CHRM2:NM_001006631:exon4:c.G169A:p.V57I,CHRM2:NM_001006626:exon5:c.G169A:p.V57I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143842239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_rankscore=0.517;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=2.13;FATHMM_converted_rankscore=0.196;FATHMM_pred=T;PROVEAN_score=-0.9;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.532;VEST3_rankscore=0.575;MetaSVM_score=-1.086;MetaSVM_rankscore=0.062;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.356;MetaLR_pred=T;M-CAP_score=0.015;M-CAP_rankscore=0.360;M-CAP_pred=T;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.382;CADD_raw_rankscore=0.587;CADD_phred=24.1;DANN_score=0.998;DANN_rankscore=0.850;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.893;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.730;Eigen-PC-raw=0.751;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=9.899;phyloP100way_vertebrate_rankscore=0.986;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.053;SiPhy_29way_logOdds_rankscore=0.930;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.491e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.369e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=9.573e-05;AF_popmax=0.0002;AF_male=5.733e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.221010;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700303 rs76394680 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.G691A:p.V231I,CHRM2:NM_001006627:exon3:c.G691A:p.V231I,CHRM2:NM_001006628:exon3:c.G691A:p.V231I,CHRM2:NM_001006632:exon3:c.G691A:p.V231I,CHRM2:NM_000739:exon4:c.G691A:p.V231I,CHRM2:NM_001006630:exon4:c.G691A:p.V231I,CHRM2:NM_001006631:exon4:c.G691A:p.V231I,CHRM2:NM_001006626:exon5:c.G691A:p.V231I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76394680;CLNALLELEID=229555;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.196;SIFT_converted_rankscore=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.251;LRT_converted_rankscore=0.155;LRT_pred=N;MutationTaster_score=0.931;MutationTaster_converted_rankscore=0.370;MutationTaster_pred=D;MutationAssessor_score=0.665;MutationAssessor_score_rankscore=0.163;MutationAssessor_pred=N;FATHMM_score=0.16;FATHMM_converted_rankscore=0.606;FATHMM_pred=T;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.080;MetaSVM_score=-0.982;MetaSVM_rankscore=0.346;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.360;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.154;M-CAP_pred=T;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.077;CADD_raw_rankscore=0.311;CADD_phred=16.71;DANN_score=0.975;DANN_rankscore=0.335;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_rankscore=0.511;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.102;Eigen-PC-raw=0.099;GenoCanyon_score=0.343;GenoCanyon_score_rankscore=0.196;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.4;GERP++_RS_rankscore=0.779;phyloP100way_vertebrate=2.867;phyloP100way_vertebrate_rankscore=0.479;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.572;phastCons20way_mammalian_rankscore=0.283;SiPhy_29way_logOdds=12.505;SiPhy_29way_logOdds_rankscore=0.551;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0040;AF_popmax=0.0066;AF_male=0.0043;AF_female=0.0037;AF_raw=0.0040;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0065;non_neuro_AF_popmax=0.0065;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0031694;Kaviar_AC=490;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.373524;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700385 rs142006633 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19195;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.A773G:p.N258S,CHRM2:NM_001006627:exon3:c.A773G:p.N258S,CHRM2:NM_001006628:exon3:c.A773G:p.N258S,CHRM2:NM_001006632:exon3:c.A773G:p.N258S,CHRM2:NM_000739:exon4:c.A773G:p.N258S,CHRM2:NM_001006630:exon4:c.A773G:p.N258S,CHRM2:NM_001006631:exon4:c.A773G:p.N258S,CHRM2:NM_001006626:exon5:c.A773G:p.N258S;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142006633;CLNALLELEID=229556;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.957;SIFT_converted_rankscore=0.021;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.623;LRT_converted_rankscore=0.107;LRT_pred=N;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.271;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_score_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.012;MetaSVM_score=-1.004;MetaSVM_rankscore=0.289;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.208;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.202;M-CAP_pred=T;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.074;CADD_raw_rankscore=0.029;CADD_phred=0.011;DANN_score=0.764;DANN_rankscore=0.111;fathmm-MKL_coding_score=0.678;fathmm-MKL_coding_rankscore=0.333;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.273;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.091;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.26;GERP++_RS_rankscore=0.497;phyloP100way_vertebrate=1.684;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.601;SiPhy_29way_logOdds_rankscore=0.218;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0008;AF=0.0005;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0007;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.345054;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700726 rs138806839 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19130;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.C1114G:p.P372A,CHRM2:NM_001006627:exon3:c.C1114G:p.P372A,CHRM2:NM_001006628:exon3:c.C1114G:p.P372A,CHRM2:NM_001006632:exon3:c.C1114G:p.P372A,CHRM2:NM_000739:exon4:c.C1114G:p.P372A,CHRM2:NM_001006630:exon4:c.C1114G:p.P372A,CHRM2:NM_001006631:exon4:c.C1114G:p.P372A,CHRM2:NM_001006626:exon5:c.C1114G:p.P372A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138806839;CLNALLELEID=229559;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.722;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.01;MutationAssessor_score_rankscore=0.549;MutationAssessor_pred=M;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.236;VEST3_rankscore=0.309;MetaSVM_score=-1.022;MetaSVM_rankscore=0.229;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.092;M-CAP_pred=T;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.481;CADD_raw_rankscore=0.140;CADD_phred=7.282;DANN_score=0.859;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.901;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.002;Eigen-PC-raw=0.209;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=5.909;phyloP100way_vertebrate_rankscore=0.695;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.773;SiPhy_29way_logOdds_rankscore=0.964;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=6.095e-05;AF=0.0010;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0014;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.064361;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644388 rs535114110 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535114110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.2e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.455739;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644394 rs3815459 C T 100 PASS AC=50;AF=0.385583;AN=214;NS=2504;DP=9425;EAS_AF=0.6786;AMR_AF=0.3415;AFR_AF=0.3404;EUR_AF=0.2097;SAS_AF=0.3569;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.385583;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3815459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1625;ExAC_nontcga_ALL=0.3819;ExAC_nontcga_AFR=0.3671;ExAC_nontcga_AMR=0.3676;ExAC_nontcga_EAS=0.7439;ExAC_nontcga_FIN=0.4375;ExAC_nontcga_NFE=0.3438;ExAC_nontcga_OTH=0.3333;ExAC_nontcga_SAS=0.3910;AF=0.2888;AF_popmax=0.7074;AF_male=0.2950;AF_female=0.2810;AF_raw=0.2890;AF_afr=0.3178;AF_sas=.;AF_amr=0.3962;AF_eas=0.7074;AF_nfe=0.2218;AF_fin=0.2924;AF_asj=0.3414;AF_oth=0.2980;non_topmed_AF_popmax=0.7046;non_neuro_AF_popmax=0.7074;non_cancer_AF_popmax=.;controls_AF_popmax=0.6909;Kaviar_AF=0.119759;Kaviar_AC=18515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.052835;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150644428 rs36210421 C A 100 PASS AC=3;AF=0.00898562;AN=214;NS=2504;DP=8790;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0378;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon9:c.G2120T:p.R707L,KCNH2:NM_000238:exon13:c.G3140T:p.R1047L;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36210421;CLNALLELEID=45092;CLNDN=Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.054;SIFT_converted_rankscore=0.386;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.220;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.231;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=0.567;MutationTaster_converted_rankscore=0.312;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-2.23;FATHMM_converted_rankscore=0.871;FATHMM_pred=D;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.590;PROVEAN_pred=D;VEST3_score=0.637;VEST3_rankscore=0.754;MetaSVM_score=-0.629;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.600;REVEL_rankscore=0.844;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.379;CADD_raw_rankscore=0.729;CADD_phred=25.9;DANN_score=0.997;DANN_rankscore=0.802;fathmm-MKL_coding_score=0.400;fathmm-MKL_coding_rankscore=0.261;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.445;Eigen-PC-raw=-0.348;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=4.09;GERP++_RS_rankscore=0.469;phyloP100way_vertebrate=-0.147;phyloP100way_vertebrate_rankscore=0.101;phyloP20way_mammalian=0.866;phyloP20way_mammalian_rankscore=0.377;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.882;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=7.663;SiPhy_29way_logOdds_rankscore=0.274;Interpro_domain=Cyclic_nucleotide-binding-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0178;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0714;ExAC_nontcga_NFE=0.015;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0039;AF=0.0267;AF_popmax=0.0355;AF_male=0.0253;AF_female=0.0284;AF_raw=0.0268;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0355;AF_fin=0.0660;AF_asj=0.0034;AF_oth=0.0287;non_topmed_AF_popmax=0.0408;non_neuro_AF_popmax=0.0357;non_cancer_AF_popmax=.;controls_AF_popmax=0.0551;Kaviar_AF=0.0071927;Kaviar_AC=1112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914344;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644755 rs75005975 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=9011;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1884A:p.P628P,KCNH2:NM_000238:exon12:c.G2904A:p.P968P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75005975;CLNALLELEID=197164;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.137e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.178e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.383e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.875936;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644866 rs200976506 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1773A:p.P591P,KCNH2:NM_000238:exon12:c.G2793A:p.P931P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200976506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.931807;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644890 rs557789224 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7640;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1749C:p.P583P,KCNH2:NM_000238:exon12:c.G2769C:p.P923P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557789224;CLNALLELEID=395691;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.891142;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645015 rs574529725 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=12605;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574529725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.463811;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645023 rs6948860 G A 100 PASS AC=20;AF=0.174121;AN=214;NS=2504;DP=12679;EAS_AF=0.1647;AMR_AF=0.0922;AFR_AF=0.3525;EUR_AF=0.0964;SAS_AF=0.0808;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.174121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6948860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1638;AF_popmax=0.3018;AF_male=0.1661;AF_female=0.1609;AF_raw=0.1637;AF_afr=0.3018;AF_sas=.;AF_amr=0.0979;AF_eas=0.1675;AF_nfe=0.1144;AF_fin=0.0752;AF_asj=0.0379;AF_oth=0.1225;non_topmed_AF_popmax=0.3024;non_neuro_AF_popmax=0.2994;non_cancer_AF_popmax=.;controls_AF_popmax=0.3064;Kaviar_AF=0.0226776;Kaviar_AC=3506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.088842;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645534 rs1805123 T G 100 PASS AC=63;AF=0.136182;AN=214;NS=2504;DP=7620;EAS_AF=0.0536;AMR_AF=0.17;AFR_AF=0.0068;EUR_AF=0.2535;SAS_AF=0.2515;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T;1000g2015aug_all=0.136182;GWAS=rs1805123|Body-mass-index||3E-13|PMID:30595370;ORegAnno_REGULATORY_P=rs1805123|Body-mass-index||3E-13|PMID:30595370;avsnp150=rs1805123;CLNALLELEID=78323;CLNDN=Atrial_fibrillation|Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0005110,MedGen:C0004238|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.225;SIFT_converted_rankscore=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_rankscore=0.522;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_rankscore=0.395;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.340;LRT_pred=N;MutationTaster_score=0.128;MutationTaster_converted_rankscore=0.391;MutationTaster_pred=P;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-4.79;FATHMM_converted_rankscore=0.987;FATHMM_pred=D;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.377;PROVEAN_pred=N;VEST3_score=0.401;VEST3_rankscore=0.462;MetaSVM_score=-1.076;MetaSVM_rankscore=0.081;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.464;REVEL_rankscore=0.763;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.039;CADD_raw_rankscore=0.306;CADD_phred=16.46;DANN_score=0.991;DANN_rankscore=0.518;fathmm-MKL_coding_score=0.744;fathmm-MKL_coding_rankscore=0.361;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.213;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.685;integrated_fitCons_score_rankscore=0.552;integrated_confidence_value=0;GERP++_RS=-0.036;GERP++_RS_rankscore=0.132;phyloP100way_vertebrate=2.770;phyloP100way_vertebrate_rankscore=0.471;phyloP20way_mammalian=0.107;phyloP20way_mammalian_rankscore=0.202;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=7.206;SiPhy_29way_logOdds_rankscore=0.249;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=ENSG00000055118.10;GTEx_V6p_tissue=Brain_Cerebellum;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.2326;ExAC_nontcga_ALL=0.1833;ExAC_nontcga_AFR=0.0427;ExAC_nontcga_AMR=0.1017;ExAC_nontcga_EAS=0.0428;ExAC_nontcga_FIN=0.1789;ExAC_nontcga_NFE=0.2327;ExAC_nontcga_OTH=0.2209;ExAC_nontcga_SAS=0.2139;AF=0.1873;AF_popmax=0.2613;AF_male=0.1859;AF_female=0.1892;AF_raw=0.1519;AF_afr=0.0524;AF_sas=.;AF_amr=0.1942;AF_eas=0.0428;AF_nfe=0.2613;AF_fin=0.2562;AF_asj=0.2366;AF_oth=0.2178;non_topmed_AF_popmax=0.2436;non_neuro_AF_popmax=0.2691;non_cancer_AF_popmax=.;controls_AF_popmax=0.2535;Kaviar_AF=0.181039;Kaviar_AC=27989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.935937;ALLELE_END GT 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150645682 rs2968860 G A 100 PASS AC=134;AF=0.709465;AN=214;NS=2504;DP=12720;EAS_AF=0.878;AMR_AF=0.611;AFR_AF=0.7625;EUR_AF=0.5606;SAS_AF=0.6871;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.709465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2968860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5610;ExAC_nontcga_ALL=0.6246;ExAC_nontcga_AFR=0.7369;ExAC_nontcga_AMR=0.6347;ExAC_nontcga_EAS=0.9012;ExAC_nontcga_FIN=0.5461;ExAC_nontcga_NFE=0.5609;ExAC_nontcga_OTH=0.6320;ExAC_nontcga_SAS=0.6648;AF=0.6252;AF_popmax=0.8936;AF_male=0.6337;AF_female=0.6145;AF_raw=0.6249;AF_afr=0.7313;AF_sas=.;AF_amr=0.6407;AF_eas=0.8936;AF_nfe=0.5611;AF_fin=0.5305;AF_asj=0.5938;AF_oth=0.5969;non_topmed_AF_popmax=0.8916;non_neuro_AF_popmax=0.8936;non_cancer_AF_popmax=.;controls_AF_popmax=0.8788;Kaviar_AF=0.002749;Kaviar_AC=425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.570218;ALLELE_END GT 0|1 1|0 0|0 1|0 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150647569 rs4725983 T C 100 PASS AC=138;AF=0.754992;AN=214;NS=2504;DP=15490;EAS_AF=0.878;AMR_AF=0.634;AFR_AF=0.8865;EUR_AF=0.6024;SAS_AF=0.6933;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4725983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6821;AF_popmax=0.8945;AF_male=0.6906;AF_female=0.6714;AF_raw=0.6814;AF_afr=0.8336;AF_sas=.;AF_amr=0.6698;AF_eas=0.8945;AF_nfe=0.5999;AF_fin=0.5962;AF_asj=0.6;AF_oth=0.6348;non_topmed_AF_popmax=0.8925;non_neuro_AF_popmax=0.8945;non_cancer_AF_popmax=.;controls_AF_popmax=0.8786;Kaviar_AF=0.0199785;Kaviar_AC=520;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.442207;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4725983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6821;AF_popmax=0.8945;AF_male=0.6906;AF_female=0.6714;AF_raw=0.6814;AF_afr=0.8336;AF_sas=.;AF_amr=0.6698;AF_eas=0.8945;AF_nfe=0.5999;AF_fin=0.5962;AF_asj=0.6;AF_oth=0.6348;non_topmed_AF_popmax=0.8925;non_neuro_AF_popmax=0.8945;non_cancer_AF_popmax=.;controls_AF_popmax=0.8786;Kaviar_AF=0.0199785;Kaviar_AC=520;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.442207;ALLELE_END GT 0|1 1|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150647969 rs2072413 C T 100 PASS AC=67;AF=0.273762;AN=214;NS=2504;DP=17315;EAS_AF=0.1379;AMR_AF=0.2089;AFR_AF=0.3828;EUR_AF=0.2942;SAS_AF=0.2914;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273762;GWAS=rs2072413|QT-interval|1.534928|3E-10|PMID:31217584;ORegAnno_REGULATORY_P=rs2072413|QT-interval|1.534928|3E-10|PMID:31217584;avsnp150=rs2072413;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2281;ExAC_nontcga_ALL=0.2417;ExAC_nontcga_AFR=0.3504;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.1197;ExAC_nontcga_FIN=0.2408;ExAC_nontcga_NFE=0.2644;ExAC_nontcga_OTH=0.2798;ExAC_nontcga_SAS=0.2436;AF=0.2683;AF_popmax=0.3425;AF_male=0.2699;AF_female=0.2664;AF_raw=0.2694;AF_afr=0.3425;AF_sas=.;AF_amr=0.1856;AF_eas=0.1168;AF_nfe=0.2588;AF_fin=0.2286;AF_asj=0.2172;AF_oth=0.2320;non_topmed_AF_popmax=0.3425;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3402;Kaviar_AF=0.233302;Kaviar_AC=36069;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.922226;ALLELE_END GT 0|1 0|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150647970 rs2072412 C G 100 PASS AC=67;AF=0.273762;AN=214;NS=2504;DP=17331;EAS_AF=0.1379;AMR_AF=0.2089;AFR_AF=0.3828;EUR_AF=0.2942;SAS_AF=0.2914;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072412;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2324;ExAC_nontcga_ALL=0.2423;ExAC_nontcga_AFR=0.3510;ExAC_nontcga_AMR=0.1265;ExAC_nontcga_EAS=0.1208;ExAC_nontcga_FIN=0.2417;ExAC_nontcga_NFE=0.2650;ExAC_nontcga_OTH=0.2798;ExAC_nontcga_SAS=0.2441;AF=0.2686;AF_popmax=0.3427;AF_male=0.2703;AF_female=0.2665;AF_raw=0.2696;AF_afr=0.3427;AF_sas=.;AF_amr=0.1856;AF_eas=0.1174;AF_nfe=0.2591;AF_fin=0.2286;AF_asj=0.2172;AF_oth=0.2330;non_topmed_AF_popmax=0.3426;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3405;Kaviar_AF=0.233516;Kaviar_AC=36102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.922226;ALLELE_END GT 0|1 0|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150648198 rs1137617 A G 100 PASS AC=138;AF=0.772165;AN=214;NS=2504;DP=15386;EAS_AF=0.8819;AMR_AF=0.6383;AFR_AF=0.9448;EUR_AF=0.6044;SAS_AF=0.6933;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y;1000g2015aug_all=0.772165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1137617;CLNALLELEID=197235;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5898;ExAC_nontcga_ALL=0.6687;ExAC_nontcga_AFR=0.9002;ExAC_nontcga_AMR=0.6576;ExAC_nontcga_EAS=0.9055;ExAC_nontcga_FIN=0.6407;ExAC_nontcga_NFE=0.5985;ExAC_nontcga_OTH=0.6884;ExAC_nontcga_SAS=0.6772;AF=0.7023;AF_popmax=0.9008;AF_male=0.7096;AF_female=0.6931;AF_raw=0.7019;AF_afr=0.8907;AF_sas=.;AF_amr=0.6792;AF_eas=0.9008;AF_nfe=0.6011;AF_fin=0.6223;AF_asj=0.6076;AF_oth=0.6427;non_topmed_AF_popmax=0.8989;non_neuro_AF_popmax=0.9008;non_cancer_AF_popmax=.;controls_AF_popmax=0.8944;Kaviar_AF=0.652417;Kaviar_AC=100865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.928297;ALLELE_END GT 0|1 1|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150648229 rs200905835 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=14936;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200905835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.934e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0039;AF_male=0.0014;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0039;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.495e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0039;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.854819;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150648789 rs1805121 T C 100 PASS AC=76;AF=0.608427;AN=214;NS=2504;DP=17035;EAS_AF=0.8343;AMR_AF=0.4625;AFR_AF=0.82;EUR_AF=0.3608;SAS_AF=0.4479;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L;1000g2015aug_all=0.608427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805121;CLNALLELEID=197263;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3601;ExAC_nontcga_ALL=0.4842;ExAC_nontcga_AFR=0.7600;ExAC_nontcga_AMR=0.5505;ExAC_nontcga_EAS=0.8699;ExAC_nontcga_FIN=0.4766;ExAC_nontcga_NFE=0.3749;ExAC_nontcga_OTH=0.4640;ExAC_nontcga_SAS=0.4675;AF=0.5231;AF_popmax=0.8594;AF_male=0.5290;AF_female=0.5158;AF_raw=0.5231;AF_afr=0.7447;AF_sas=.;AF_amr=0.5307;AF_eas=0.8594;AF_nfe=0.3831;AF_fin=0.4636;AF_asj=0.3862;AF_oth=0.4706;non_topmed_AF_popmax=0.8572;non_neuro_AF_popmax=0.8594;non_cancer_AF_popmax=.;controls_AF_popmax=0.8446;Kaviar_AF=0.464567;Kaviar_AC=71823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001133220|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937504;ALLELE_END GT 0|0 1|0 1|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150648986 rs2072411 G C 100 PASS AC=78;AF=0.431709;AN=214;NS=2504;DP=16153;EAS_AF=0.6766;AMR_AF=0.4438;AFR_AF=0.2882;EUR_AF=0.339;SAS_AF=0.4601;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.431709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3422;AF_popmax=0.6877;AF_male=0.3471;AF_female=0.3361;AF_raw=0.3420;AF_afr=0.2717;AF_sas=.;AF_amr=0.4682;AF_eas=0.6877;AF_nfe=0.3306;AF_fin=0.3681;AF_asj=0.4375;AF_oth=0.3702;non_topmed_AF_popmax=0.6832;non_neuro_AF_popmax=0.6877;non_cancer_AF_popmax=.;controls_AF_popmax=0.6846;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001133220|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.811896;ALLELE_END GT 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|1 1|1 0|0 0|0 +7 150649531 rs1805120 G A 100 PASS AC=50;AF=0.341653;AN=214;NS=2504;DP=18979;EAS_AF=0.622;AMR_AF=0.3357;AFR_AF=0.2511;EUR_AF=0.2127;SAS_AF=0.3119;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C519T:p.F173F,KCNH2:NM_172057:exon2:c.C519T:p.F173F,KCNH2:NM_000238:exon6:c.C1539T:p.F513F,KCNH2:NM_172056:exon6:c.C1539T:p.F513F;1000g2015aug_all=0.341653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805120;CLNALLELEID=45091;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2133;ExAC_nontcga_ALL=0.2989;ExAC_nontcga_AFR=0.2489;ExAC_nontcga_AMR=0.4333;ExAC_nontcga_EAS=0.6635;ExAC_nontcga_FIN=0.3166;ExAC_nontcga_NFE=0.2205;ExAC_nontcga_OTH=0.3017;ExAC_nontcga_SAS=0.3136;AF=0.2658;AF_popmax=0.6542;AF_male=0.2701;AF_female=0.2603;AF_raw=0.2658;AF_afr=0.2462;AF_sas=.;AF_amr=0.3735;AF_eas=0.6542;AF_nfe=0.2216;AF_fin=0.2980;AF_asj=0.3241;AF_oth=0.2910;non_topmed_AF_popmax=0.6495;non_neuro_AF_popmax=0.6542;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.281769;Kaviar_AC=43562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.935941;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150649542 rs75648145 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18889;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C508T:p.L170L,KCNH2:NM_172057:exon2:c.C508T:p.L170L,KCNH2:NM_000238:exon6:c.C1528T:p.L510L,KCNH2:NM_172056:exon6:c.C1528T:p.L510L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75648145;CLNALLELEID=239999;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0048;AF=0.0009;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0011;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0013842;Kaviar_AC=214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937377;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150649603 rs740952 G A 100 PASS AC=51;AF=0.342652;AN=214;NS=2504;DP=19711;EAS_AF=0.6131;AMR_AF=0.3372;AFR_AF=0.2632;EUR_AF=0.2127;SAS_AF=0.3088;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C447T:p.I149I,KCNH2:NM_172057:exon2:c.C447T:p.I149I,KCNH2:NM_000238:exon6:c.C1467T:p.I489I,KCNH2:NM_172056:exon6:c.C1467T:p.I489I;1000g2015aug_all=0.342652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs740952;CLNALLELEID=252648;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2135;ExAC_nontcga_ALL=0.2980;ExAC_nontcga_AFR=0.2607;ExAC_nontcga_AMR=0.4351;ExAC_nontcga_EAS=0.6601;ExAC_nontcga_FIN=0.3017;ExAC_nontcga_NFE=0.2197;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.3101;AF=0.2682;AF_popmax=0.6466;AF_male=0.2731;AF_female=0.2620;AF_raw=0.2683;AF_afr=0.2567;AF_sas=.;AF_amr=0.3765;AF_eas=0.6466;AF_nfe=0.2227;AF_fin=0.2907;AF_asj=0.3276;AF_oth=0.2934;non_topmed_AF_popmax=0.6430;non_neuro_AF_popmax=0.6466;non_cancer_AF_popmax=.;controls_AF_popmax=0.6404;Kaviar_AF=0.281238;Kaviar_AC=43480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518326|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.936884;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150649984 rs200553620 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17419;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200553620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=4.923e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.612e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.575e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.197e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.858473;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150652419 rs876088 T C 100 PASS AC=20;AF=0.133786;AN=214;NS=2504;DP=15262;EAS_AF=0.1458;AMR_AF=0.0764;AFR_AF=0.2224;EUR_AF=0.0964;SAS_AF=0.0808;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1326;AF_popmax=0.1989;AF_male=0.1349;AF_female=0.1298;AF_raw=0.1328;AF_afr=0.1989;AF_sas=.;AF_amr=0.0922;AF_eas=0.1390;AF_nfe=0.1128;AF_fin=0.0751;AF_asj=0.0379;AF_oth=0.1133;non_topmed_AF_popmax=0.1995;non_neuro_AF_popmax=0.1942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2008;Kaviar_AF=0.0205172;Kaviar_AC=3172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843775|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.455927;ALLELE_END GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150652420 rs574665044 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15183;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574665044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843775|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.455927;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150654622 rs539893769 A AG 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=17664;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=GG|G|GG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11462566;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9988;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.133938;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 150655624 rs758891 T C 100 PASS AC=70;AF=0.501797;AN=214;NS=2504;DP=11270;EAS_AF=0.7649;AMR_AF=0.4222;AFR_AF=0.5703;EUR_AF=0.3091;SAS_AF=0.3926;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.501797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758891;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2406;ExAC_nontcga_ALL=0.4143;ExAC_nontcga_AFR=0.5207;ExAC_nontcga_AMR=0.5283;ExAC_nontcga_EAS=0.8768;ExAC_nontcga_FIN=0.6667;ExAC_nontcga_NFE=0.3456;ExAC_nontcga_OTH=0.3727;ExAC_nontcga_SAS=0.4250;AF=0.4200;AF_popmax=0.7870;AF_male=0.4262;AF_female=0.4122;AF_raw=0.4205;AF_afr=0.5240;AF_sas=.;AF_amr=0.4714;AF_eas=0.7870;AF_nfe=0.3342;AF_fin=0.3738;AF_asj=0.3403;AF_oth=0.4117;non_topmed_AF_popmax=0.7856;non_neuro_AF_popmax=0.7870;non_cancer_AF_popmax=.;controls_AF_popmax=0.7792;Kaviar_AF=0.146311;Kaviar_AC=22620;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.37037::-0.379158;ENSEMBLReg=.;ENSTFBS=Name\x3dTEAD4::MAX|ENSPFM0565|ENSM00196668572|11.0508198118;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.995433;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150655643 rs758890 G A 100 PASS AC=70;AF=0.4998;AN=214;NS=2504;DP=12199;EAS_AF=0.7649;AMR_AF=0.4222;AFR_AF=0.5628;EUR_AF=0.3091;SAS_AF=0.3926;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.4998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4172;AF_popmax=0.7851;AF_male=0.4233;AF_female=0.4097;AF_raw=0.4176;AF_afr=0.5154;AF_sas=.;AF_amr=0.4702;AF_eas=0.7851;AF_nfe=0.3343;AF_fin=0.3735;AF_asj=0.3299;AF_oth=0.4080;non_topmed_AF_popmax=0.7836;non_neuro_AF_popmax=0.7851;non_cancer_AF_popmax=.;controls_AF_popmax=0.7786;Kaviar_AF=0.0660535;Kaviar_AC=10212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.378455;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114841;ALLELE_END GT 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150656690 rs139544114 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17275;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon3:c.C442T:p.R148W,KCNH2:NM_172056:exon3:c.C442T:p.R148W;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139544114;CLNALLELEID=78401;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.839;MutationTaster_converted_rankscore=0.398;MutationTaster_pred=D;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-5.1;FATHMM_converted_rankscore=0.987;FATHMM_pred=D;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.553;PROVEAN_pred=D;VEST3_score=0.79;VEST3_rankscore=0.780;MetaSVM_score=1.099;MetaSVM_rankscore=0.996;MetaSVM_pred=D;MetaLR_score=0.930;MetaLR_rankscore=0.977;MetaLR_pred=D;M-CAP_score=0.748;M-CAP_rankscore=0.980;M-CAP_pred=D;REVEL_score=0.744;REVEL_rankscore=0.913;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.974;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.136;Eigen-PC-raw=-0.031;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.8;GERP++_RS_rankscore=0.427;phyloP100way_vertebrate=2.882;phyloP100way_vertebrate_rankscore=0.480;phyloP20way_mammalian=0.072;phyloP20way_mammalian_rankscore=0.180;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=11.589;SiPhy_29way_logOdds_rankscore=0.500;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0015;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0009702;Kaviar_AC=150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.909359;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671769 rs139968479 G A 100 PASS AC=1;AF=0.0215655;AN=214;NS=2504;DP=6190;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0711;EUR_AF=0.003;SAS_AF=0.0082;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139968479;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0168;ExAC_nontcga_AFR=0.1385;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0127;AF=0.0192;AF_popmax=0.0624;AF_male=0.0206;AF_female=0.0174;AF_raw=0.0188;AF_afr=0.0624;AF_sas=.;AF_amr=0.0065;AF_eas=0;AF_nfe=0.0028;AF_fin=0.0012;AF_asj=0;AF_oth=0.0038;non_topmed_AF_popmax=0.0627;non_neuro_AF_popmax=0.0610;non_cancer_AF_popmax=.;controls_AF_popmax=0.0634;Kaviar_AF=0.0047865;Kaviar_AC=740;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843782|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195931|N/A|TFAP2C|PAZAR,OREG1518323|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.825010;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671772 rs200121781 C G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671793 rs201872229 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201872229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.064;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.315e-05;AF_popmax=0.0007;AF_male=0;AF_female=7.534e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843782|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.886612;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150675078 rs545717695 C G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151254175 rs8961 T C 100 PASS AC=139;AF=0.554313;AN=214;NS=2504;DP=20876;EAS_AF=0.7292;AMR_AF=0.5749;AFR_AF=0.2496;EUR_AF=0.6799;SAS_AF=0.6421;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.*112A>G\x3bNM_001304531:c.*112A>G\x3bNM_024429:c.*112A>G\x3bNM_001304527:c.*112A>G\x3bNM_001040633:c.*112A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.554313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8961;CLNALLELEID=302216;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5554;AF_popmax=0.7195;AF_male=0.5566;AF_female=0.5539;AF_raw=0.5554;AF_afr=0.3069;AF_sas=.;AF_amr=0.5320;AF_eas=0.7195;AF_nfe=0.6412;AF_fin=0.6887;AF_asj=0.6931;AF_oth=0.6492;non_topmed_AF_popmax=0.7211;non_neuro_AF_popmax=0.7195;non_cancer_AF_popmax=.;controls_AF_popmax=0.7232;Kaviar_AF=0.120975;Kaviar_AC=18703;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.634026;ALLELE_END GT 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 1|0 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|1 0|0 +7 151254231 rs141781827 C T 100 PASS AC=3;AF=0.00519169;AN=214;NS=2504;DP=21118;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.004;SAS_AF=0.0174;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.*56G>A\x3bNM_001304531:c.*56G>A\x3bNM_024429:c.*56G>A\x3bNM_001304527:c.*56G>A\x3bNM_001040633:c.*56G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141781827;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0082;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0069;AF_male=0.0055;AF_female=0.0042;AF_raw=0.0050;AF_afr=0.0022;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0069;AF_fin=0.0009;AF_asj=0.0552;AF_oth=0.0055;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0014036;Kaviar_AC=217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.779129;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151254443 rs142653616 G A 100 PASS AC=8;AF=0.0131789;AN=214;NS=2504;DP=15114;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0487;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0131789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142653616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0345;AF_popmax=0.0439;AF_male=0.0324;AF_female=0.0370;AF_raw=0.0344;AF_afr=0.0076;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0439;AF_fin=0.0760;AF_asj=0.0103;AF_oth=0.0460;non_topmed_AF_popmax=0.0455;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0542;Kaviar_AF=0.0040038;Kaviar_AC=619;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.862168;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 151254445 rs764801 T C 100 PASS AC=139;AF=0.540136;AN=214;NS=2504;DP=15325;EAS_AF=0.7292;AMR_AF=0.5692;AFR_AF=0.1989;EUR_AF=0.6799;SAS_AF=0.6421;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs764801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5442;AF_popmax=0.7208;AF_male=0.5440;AF_female=0.5444;AF_raw=0.5439;AF_afr=0.2658;AF_sas=.;AF_amr=0.5319;AF_eas=0.7208;AF_nfe=0.6415;AF_fin=0.6885;AF_asj=0.6931;AF_oth=0.6476;non_topmed_AF_popmax=0.7224;non_neuro_AF_popmax=0.7208;non_cancer_AF_popmax=.;controls_AF_popmax=0.7254;Kaviar_AF=0.0066851;Kaviar_AC=174;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.862168;ALLELE_END GT 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 1|0 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|1 0|0 +7 151262385 rs73156279 T C 100 PASS AC=8;AF=0.0171725;AN=214;NS=2504;DP=15793;EAS_AF=0.003;AMR_AF=0.013;AFR_AF=0.0129;EUR_AF=0.0338;SAS_AF=0.0235;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73156279;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0156;ExAC_nontcga_EAS=0.0023;ExAC_nontcga_FIN=0.0364;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0278;ExAC_nontcga_SAS=0.0313;AF=0.0261;AF_popmax=0.0331;AF_male=0.0276;AF_female=0.0243;AF_raw=0.0261;AF_afr=0.0188;AF_sas=.;AF_amr=0.0130;AF_eas=0.0013;AF_nfe=0.0331;AF_fin=0.0301;AF_asj=0.0243;AF_oth=0.0193;non_topmed_AF_popmax=0.0313;non_neuro_AF_popmax=0.0326;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.0240165;Kaviar_AC=3713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.515273;ALLELE_END GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151262528 rs530752815 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=16190;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0112;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530752815;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0024;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0172;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001191;Kaviar_AC=31;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.112605;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267237 rs570857964;rs533060575;rs374874465 GA GAA 100 PASS AC=2;AF=0.0181709;AN=214;NS=2504;DP=18387;EAS_AF=0.0159;AMR_AF=0.0043;AFR_AF=0.0333;EUR_AF=0.0089;SAS_AF=0.0194;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.488128;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267292 rs397517260 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_024429:exon6:c.A348T:p.T116T,PRKAG2:NM_001304531:exon7:c.A348T:p.T116T,PRKAG2:NM_001304527:exon8:c.A696T:p.T232T,PRKAG2:NM_001040633:exon10:c.A939T:p.T313T,PRKAG2:NM_016203:exon10:c.A1071T:p.T357T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517260;CLNALLELEID=54850;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.896e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.871140;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267353 rs2302531 G A 100 PASS AC=23;AF=0.144169;AN=214;NS=2504;DP=17433;EAS_AF=0.2569;AMR_AF=0.1671;AFR_AF=0.0197;EUR_AF=0.1064;SAS_AF=0.2188;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.144169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302531;CLNALLELEID=252649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1105;ExAC_nontcga_ALL=0.1459;ExAC_nontcga_AFR=0.0295;ExAC_nontcga_AMR=0.2391;ExAC_nontcga_EAS=0.2623;ExAC_nontcga_FIN=0.1060;ExAC_nontcga_NFE=0.1170;ExAC_nontcga_OTH=0.1662;ExAC_nontcga_SAS=0.2000;AF=0.1045;AF_popmax=0.2593;AF_male=0.1026;AF_female=0.1069;AF_raw=0.1044;AF_afr=0.0309;AF_sas=.;AF_amr=0.2205;AF_eas=0.2593;AF_nfe=0.1206;AF_fin=0.1043;AF_asj=0.1931;AF_oth=0.1324;non_topmed_AF_popmax=0.2579;non_neuro_AF_popmax=0.2593;non_cancer_AF_popmax=.;controls_AF_popmax=0.2599;Kaviar_AF=0.136803;Kaviar_AC=21150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.186830;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151267397 rs2302530 G A 100 PASS AC=40;AF=0.242412;AN=214;NS=2504;DP=16488;EAS_AF=0.4593;AMR_AF=0.2565;AFR_AF=0.0106;EUR_AF=0.2435;SAS_AF=0.3211;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302530;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2047;AF_popmax=0.4530;AF_male=0.2023;AF_female=0.2078;AF_raw=0.2050;AF_afr=0.0460;AF_sas=.;AF_amr=0.2193;AF_eas=0.4530;AF_nfe=0.2441;AF_fin=0.3062;AF_asj=0.1310;AF_oth=0.2509;non_topmed_AF_popmax=0.4545;non_neuro_AF_popmax=0.4530;non_cancer_AF_popmax=.;controls_AF_popmax=0.4529;Kaviar_AF=0.0458597;Kaviar_AC=7090;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.575774;ALLELE_END GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 +7 151269890 rs17134620 T A 100 PASS AC=23;AF=0.147764;AN=214;NS=2504;DP=14966;EAS_AF=0.2569;AMR_AF=0.1686;AFR_AF=0.0318;EUR_AF=0.1064;SAS_AF=0.2198;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17134620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1075;AF_popmax=0.2587;AF_male=0.1051;AF_female=0.1104;AF_raw=0.1075;AF_afr=0.0424;AF_sas=.;AF_amr=0.2205;AF_eas=0.2587;AF_nfe=0.1203;AF_fin=0.1042;AF_asj=0.1897;AF_oth=0.1324;non_topmed_AF_popmax=0.2573;non_neuro_AF_popmax=0.2587;non_cancer_AF_popmax=.;controls_AF_popmax=0.2582;Kaviar_AF=0.0247668;Kaviar_AC=3829;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.272002;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151269916 rs73156285 C T 100 PASS AC=23;AF=0.147764;AN=214;NS=2504;DP=14771;EAS_AF=0.2569;AMR_AF=0.1686;AFR_AF=0.0318;EUR_AF=0.1064;SAS_AF=0.2198;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73156285;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1071;AF_popmax=0.2594;AF_male=0.1048;AF_female=0.1101;AF_raw=0.1071;AF_afr=0.0406;AF_sas=.;AF_amr=0.2210;AF_eas=0.2594;AF_nfe=0.1206;AF_fin=0.1039;AF_asj=0.1897;AF_oth=0.1324;non_topmed_AF_popmax=0.2579;non_neuro_AF_popmax=0.2594;non_cancer_AF_popmax=.;controls_AF_popmax=0.2593;Kaviar_AF=0.13182;Kaviar_AC=3431;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.077991;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151292395 rs35348247 A AT 100 PASS AC=156;AF=0.804712;AN=214;NS=2504;DP=20232;EAS_AF=0.9851;AMR_AF=0.7622;AFR_AF=0.6884;EUR_AF=0.7555;SAS_AF=0.8569;AA=T|-|T|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.804712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35348247;CLNALLELEID=252652;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7284;ExAC_nontcga_ALL=0.7690;ExAC_nontcga_AFR=0.6764;ExAC_nontcga_AMR=0.7435;ExAC_nontcga_EAS=0.9800;ExAC_nontcga_FIN=0.7839;ExAC_nontcga_NFE=0.7366;ExAC_nontcga_OTH=0.7798;ExAC_nontcga_SAS=0.8348;AF=0.7286;AF_popmax=0.9840;AF_male=0.7294;AF_female=0.7277;AF_raw=0.7282;AF_afr=0.6608;AF_sas=.;AF_amr=0.7411;AF_eas=0.9840;AF_nfe=0.7260;AF_fin=0.7730;AF_asj=0.7972;AF_oth=0.7716;non_topmed_AF_popmax=0.9849;non_neuro_AF_popmax=0.9840;non_cancer_AF_popmax=.;controls_AF_popmax=0.9847;Kaviar_AF=0.0997335;Kaviar_AC=15419;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|0 0|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|0 +7 151292609 rs138600726 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20237;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138600726;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151292614 rs574858008 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20248;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574858008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.555e-05;AF_popmax=0.0002;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151329345 rs3750136 G A 100 PASS AC=2;AF=0.0547125;AN=214;NS=2504;DP=3137;EAS_AF=0.1647;AMR_AF=0.0418;AFR_AF=0.0454;EUR_AF=0.007;SAS_AF=0.0123;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0547125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0279;AF_popmax=0.1815;AF_male=0.0292;AF_female=0.0263;AF_raw=0.0253;AF_afr=0.0356;AF_sas=.;AF_amr=0.0767;AF_eas=0.1815;AF_nfe=0.0044;AF_fin=0.0397;AF_asj=0;AF_oth=0.0252;non_topmed_AF_popmax=0.1821;non_neuro_AF_popmax=0.1815;non_cancer_AF_popmax=.;controls_AF_popmax=0.1858;Kaviar_AF=0.0203627;Kaviar_AC=530;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219874|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.612887;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151372472 rs372484263 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17298;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372484263;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0022;ExAC_nontcga_SAS=0.0030;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.049855;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151372744 rs116226629 A G 100 PASS AC=1;AF=0.061901;AN=214;NS=2504;DP=17574;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.2133;EUR_AF=0.0149;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116226629;CLNALLELEID=549615;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0270;ExAC_nontcga_AFR=0.1903;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0259;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0020;AF=0.0667;AF_popmax=0.2010;AF_male=0.0684;AF_female=0.0645;AF_raw=0.0666;AF_afr=0.2010;AF_sas=.;AF_amr=0.0165;AF_eas=0.0006;AF_nfe=0.0138;AF_fin=0.0282;AF_asj=0;AF_oth=0.0286;non_topmed_AF_popmax=0.2012;non_neuro_AF_popmax=0.2034;non_cancer_AF_popmax=.;controls_AF_popmax=0.1952;Kaviar_AF=0.025653;Kaviar_AC=3966;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.103704;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151478187 rs139668510 A G 100 PASS AC=10;AF=0.0157748;AN=214;NS=2504;DP=16807;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0408;SAS_AF=0.0184;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139668510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0327;ExAC_nontcga_AFR=0.0061;ExAC_nontcga_AMR=0.0161;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0487;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0206;AF=0.0346;AF_popmax=0.0502;AF_male=0.0344;AF_female=0.0349;AF_raw=0.0346;AF_afr=0.0099;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0502;AF_fin=0.0449;AF_asj=0.0276;AF_oth=0.0340;non_topmed_AF_popmax=0.0508;non_neuro_AF_popmax=0.0503;non_cancer_AF_popmax=.;controls_AF_popmax=0.0501;Kaviar_AF=0.0338288;Kaviar_AC=5230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.281282;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151478227 rs199517865 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16662;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199517865;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.837e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.537e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718785;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +7 151483608 rs181839504 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon2:c.T2A:p.M1K,PRKAG2:NM_016203:exon2:c.T134A:p.M45K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181839504;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.693;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-1.99;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.899;VEST3_rankscore=0.888;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_rankscore=0.890;MetaLR_pred=D;M-CAP_score=0.122;M-CAP_rankscore=0.804;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.373;CADD_raw_rankscore=0.464;CADD_phred=22.9;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.281;Eigen-PC-raw=0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=5.182;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.768;SiPhy_29way_logOdds_rankscore=0.566;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.351e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.448e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.857256;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon2:c.T2A:p.M1K,PRKAG2:NM_016203:exon2:c.T134A:p.M45K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181839504;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.693;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-1.99;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.899;VEST3_rankscore=0.888;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_rankscore=0.890;MetaLR_pred=D;M-CAP_score=0.122;M-CAP_rankscore=0.804;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.373;CADD_raw_rankscore=0.464;CADD_phred=22.9;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.281;Eigen-PC-raw=0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=5.182;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.768;SiPhy_29way_logOdds_rankscore=0.566;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.351e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.448e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.857256;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151573549 rs75750979 G A 100 PASS AC=7;AF=0.0587061;AN=214;NS=2504;DP=10317;EAS_AF=0.1796;AMR_AF=0.0922;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0082;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0587061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75750979;CLNALLELEID=252654;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.1454;ExAC_nontcga_EAS=0.1921;ExAC_nontcga_FIN=0.0261;ExAC_nontcga_NFE=0.0451;ExAC_nontcga_OTH=0.0376;ExAC_nontcga_SAS=0.0152;AF=0.0411;AF_popmax=0.1990;AF_male=0.0424;AF_female=0.0395;AF_raw=0.0412;AF_afr=0.0114;AF_sas=.;AF_amr=0.1309;AF_eas=0.1990;AF_nfe=0.0408;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0469;non_topmed_AF_popmax=0.2013;non_neuro_AF_popmax=0.1990;non_cancer_AF_popmax=.;controls_AF_popmax=0.1834;Kaviar_AF=0.0548052;Kaviar_AC=8473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.804895;ALLELE_END GT 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +7 151573580 rs77902041 G A 100 PASS AC=7;AF=0.0277556;AN=214;NS=2504;DP=11371;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0008;EUR_AF=0.0676;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0277556;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77902041;CLNALLELEID=54854;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0769;ExAC_nontcga_ALL=0.0483;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.0301;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0523;ExAC_nontcga_NFE=0.0701;ExAC_nontcga_OTH=0.0448;ExAC_nontcga_SAS=0.0313;AF=0.0540;AF_popmax=0.0809;AF_male=0.0532;AF_female=0.0549;AF_raw=0.0539;AF_afr=0.0155;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0809;AF_fin=0.0571;AF_asj=0.0556;AF_oth=0.0600;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0815;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.0508338;Kaviar_AC=7859;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.665623;ALLELE_END GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151573731 rs66628686 G A 100 PASS AC=26;AF=0.188898;AN=214;NS=2504;DP=15358;EAS_AF=0.2391;AMR_AF=0.2522;AFR_AF=0.1309;EUR_AF=0.1213;SAS_AF=0.2403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.-26C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.188898;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66628686;CLNALLELEID=252655;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1259;ExAC_nontcga_ALL=0.1788;ExAC_nontcga_AFR=0.1402;ExAC_nontcga_AMR=0.3335;ExAC_nontcga_EAS=0.2638;ExAC_nontcga_FIN=0.1825;ExAC_nontcga_NFE=0.1273;ExAC_nontcga_OTH=0.1647;ExAC_nontcga_SAS=0.2230;AF=0.1447;AF_popmax=0.2624;AF_male=0.1453;AF_female=0.1440;AF_raw=0.1451;AF_afr=0.1353;AF_sas=.;AF_amr=0.2624;AF_eas=0.2372;AF_nfe=0.1319;AF_fin=0.1596;AF_asj=0.1241;AF_oth=0.1360;non_topmed_AF_popmax=0.2649;non_neuro_AF_popmax=0.2409;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.162378;Kaviar_AC=25104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.865855;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +8 11566168 rs539403410 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5110;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.C347T:p.S116F,GATA4:NM_002052:exon2:c.C347T:p.S116F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539403410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.1;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=0.857;Polyphen2_HDIV_rankscore=0.453;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.505;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=P;LRT_score=0.151;LRT_converted_rankscore=0.179;LRT_pred=N;MutationTaster_score=0.895;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-4.86;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.45;PROVEAN_converted_rankscore=0.391;PROVEAN_pred=N;VEST3_score=0.181;VEST3_rankscore=0.425;MetaSVM_score=0.934;MetaSVM_rankscore=0.962;MetaSVM_pred=D;MetaLR_score=0.883;MetaLR_rankscore=0.961;MetaLR_pred=D;M-CAP_score=0.995;M-CAP_rankscore=1.000;M-CAP_pred=D;REVEL_score=0.587;REVEL_rankscore=0.837;MutPred_score=0.661;MutPred_rankscore=0.799;CADD_raw=3.029;CADD_raw_rankscore=0.424;CADD_phred=22.3;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.638;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.102;Eigen-PC-raw=0.092;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=4.056;phyloP100way_vertebrate_rankscore=0.569;phyloP20way_mammalian=0.776;phyloP20way_mammalian_rankscore=0.313;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.972;phastCons20way_mammalian_rankscore=0.466;SiPhy_29way_logOdds=14.005;SiPhy_29way_logOdds_rankscore=0.638;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847833|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1490706|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.929428;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11606364 rs10503425 G C 100 PASS AC=23;AF=0.0493211;AN=214;NS=2504;DP=21121;EAS_AF=0.001;AMR_AF=0.0764;AFR_AF=0.0083;EUR_AF=0.1402;SAS_AF=0.0419;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0493211;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10503425;CLNALLELEID=426524;CLNDN=Congenital_heart_disease;CLNDISDB=MedGen:C0152021,SNOMED_CT:13213009;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1239;AF_popmax=0.1876;AF_male=0.1198;AF_female=0.1290;AF_raw=0.1239;AF_afr=0.0251;AF_sas=.;AF_amr=0.0542;AF_eas=0.0006;AF_nfe=0.1876;AF_fin=0.1485;AF_asj=0.1586;AF_oth=0.1547;non_topmed_AF_popmax=0.1987;non_neuro_AF_popmax=0.1884;non_cancer_AF_popmax=.;controls_AF_popmax=0.2307;Kaviar_AF=0.0242494;Kaviar_AC=3749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1490707|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +8 11607658 rs55980825 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18726;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon3:c.C825T:p.C275C,GATA4:NM_001308094:exon4:c.C204T:p.C68C,GATA4:NM_002052:exon4:c.C822T:p.C274C;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980825;CLNALLELEID=53503;CLNDN=Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0010;AF=0.0026;AF_popmax=0.0040;AF_male=0.0026;AF_female=0.0025;AF_raw=0.0026;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0030;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0029;Kaviar_AF=0.0025226;Kaviar_AC=390;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937562;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11607693 rs116430078 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18246;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon3:c.C860T:p.A287V,GATA4:NM_001308094:exon4:c.C239T:p.A80V,GATA4:NM_002052:exon4:c.C857T:p.A286V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116430078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.047;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=0.676;Polyphen2_HDIV_rankscore=0.471;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.369;Polyphen2_HVAR_rankscore=0.485;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.665;MutationAssessor_score_rankscore=0.427;MutationAssessor_pred=L;FATHMM_score=-6.03;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-3.59;PROVEAN_converted_rankscore=0.692;PROVEAN_pred=D;VEST3_score=0.707;VEST3_rankscore=0.709;MetaSVM_score=1.115;MetaSVM_rankscore=0.999;MetaSVM_pred=D;MetaLR_score=0.959;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.786;M-CAP_rankscore=0.983;M-CAP_pred=D;REVEL_score=0.658;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.411;CADD_raw_rankscore=0.885;CADD_phred=29.7;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.289;Eigen-PC-raw=0.293;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=5.942;phyloP100way_vertebrate_rankscore=0.697;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.156;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=18.719;SiPhy_29way_logOdds_rankscore=0.916;Interpro_domain=Zinc_finger,_GATA-type|Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.625e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.391e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.104e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900424;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612512 rs138748973 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138748973;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.931764;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612519 rs142727860 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17997;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142727860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.126e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.242e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.931764;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612665 rs76808439 A T 100 PASS AC=1;AF=0.0233626;AN=214;NS=2504;DP=18390;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0862;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76808439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0728;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0230;AF_popmax=0.0814;AF_male=0.0238;AF_female=0.0219;AF_raw=0.0230;AF_afr=0.0814;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0813;non_neuro_AF_popmax=0.0844;non_cancer_AF_popmax=.;controls_AF_popmax=0.0909;Kaviar_AF=0.0062936;Kaviar_AC=973;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847839|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.612892;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612698 rs804280 C A 100 PASS AC=119;AF=0.734425;AN=214;NS=2504;DP=18339;EAS_AF=0.9861;AMR_AF=0.6902;AFR_AF=0.5961;EUR_AF=0.5646;SAS_AF=0.8681;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734425;GWAS=rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560;ORegAnno_REGULATORY_P=rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560;avsnp150=rs804280;CLNALLELEID=143221;CLNDN=Congenital_heart_disease|not_provided;CLNDISDB=MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5839;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6179;AF_popmax=0.9827;AF_male=0.6220;AF_female=0.6126;AF_raw=0.6177;AF_afr=0.5845;AF_sas=.;AF_amr=0.7648;AF_eas=0.9827;AF_nfe=0.5737;AF_fin=0.7098;AF_asj=0.4379;AF_oth=0.625;non_topmed_AF_popmax=0.9829;non_neuro_AF_popmax=0.9827;non_cancer_AF_popmax=.;controls_AF_popmax=0.9782;Kaviar_AF=0.123737;Kaviar_AC=19130;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.42803::0.357079;Heart_Left_Ventricle=Heart_Left_Ventricle::0.40625::0.279749;ENSEMBLReg=Name\x3dENSR00000847839|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.533169;ALLELE_END GT 0|1 0|0 1|0 1|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|1 0|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 +8 11614575 rs3729856 A G 100 PASS AC=21;AF=0.0429313;AN=214;NS=2504;DP=19680;EAS_AF=0.001;AMR_AF=0.0677;AFR_AF=0.0098;EUR_AF=0.1193;SAS_AF=0.0348;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon5:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729856;CLNALLELEID=53501;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.417;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_converted_rankscore=0.230;LRT_pred=N;MutationTaster_score=0.402;MutationTaster_converted_rankscore=0.325;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=-5.31;FATHMM_converted_rankscore=0.990;FATHMM_pred=D;PROVEAN_score=-0.39;PROVEAN_converted_rankscore=0.136;PROVEAN_pred=N;VEST3_score=0.105;VEST3_rankscore=0.221;MetaSVM_score=-0.395;MetaSVM_rankscore=0.722;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.793;CADD_raw_rankscore=0.170;CADD_phred=9.418;DANN_score=0.972;DANN_rankscore=0.325;fathmm-MKL_coding_score=0.521;fathmm-MKL_coding_rankscore=0.288;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.697;Eigen-PC-raw=-0.579;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=0.906;GERP++_RS_rankscore=0.184;phyloP100way_vertebrate=0.363;phyloP100way_vertebrate_rankscore=0.199;phyloP20way_mammalian=-0.670;phyloP20way_mammalian_rankscore=0.040;phastCons100way_vertebrate=0.799;phastCons100way_vertebrate_rankscore=0.295;phastCons20way_mammalian=0.884;phastCons20way_mammalian_rankscore=0.371;SiPhy_29way_logOdds=1.707;SiPhy_29way_logOdds_rankscore=0.027;Interpro_domain=.;GTEx_V6p_gene=ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.14;ExAC_nontcga_ALL=0.0921;ExAC_nontcga_AFR=0.0201;ExAC_nontcga_AMR=0.0401;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1405;ExAC_nontcga_NFE=0.1328;ExAC_nontcga_OTH=0.1199;ExAC_nontcga_SAS=0.0557;AF=0.1063;AF_popmax=0.1589;AF_male=0.1014;AF_female=0.1125;AF_raw=0.1064;AF_afr=0.0190;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.1589;AF_fin=0.1372;AF_asj=0.1793;AF_oth=0.1379;non_topmed_AF_popmax=0.1709;non_neuro_AF_popmax=0.1593;non_cancer_AF_popmax=.;controls_AF_popmax=0.2053;Kaviar_AF=0.0944554;Kaviar_AC=14603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847840|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865437;ALLELE_END GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +8 11616015 rs148278615 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18511;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GATA4;GeneDetail.refGene=NM_001308094:c.*31C>T\x3bNM_002052:c.*31C>T\x3bNM_001308093:c.*31C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148278615;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.486e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.602493;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +8 74888494 rs2306486 C T 100 PASS AC=61;AF=0.216653;AN=214;NS=2504;DP=9744;EAS_AF=0.1925;AMR_AF=0.232;AFR_AF=0.115;EUR_AF=0.2893;SAS_AF=0.2935;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TMEM70;GeneDetail.refGene=NM_001040613:c.-23C>T\x3bNM_017866:c.-23C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306486;CLNALLELEID=315216;CLNDN=Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2945;ExAC_nontcga_ALL=0.3544;ExAC_nontcga_AFR=0.2023;ExAC_nontcga_AMR=0.3852;ExAC_nontcga_EAS=0.2646;ExAC_nontcga_FIN=0.4676;ExAC_nontcga_NFE=0.3696;ExAC_nontcga_OTH=0.3584;ExAC_nontcga_SAS=0.3628;AF=0.2528;AF_popmax=0.2985;AF_male=0.2504;AF_female=0.2558;AF_raw=0.2531;AF_afr=0.1451;AF_sas=.;AF_amr=0.2332;AF_eas=0.2175;AF_nfe=0.2985;AF_fin=0.3448;AF_asj=0.1414;AF_oth=0.2724;non_topmed_AF_popmax=0.2934;non_neuro_AF_popmax=0.2978;non_cancer_AF_popmax=.;controls_AF_popmax=0.2762;Kaviar_AF=0.254518;Kaviar_AC=39349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR,OREG1483664|N/A|E2F4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.505951;ALLELE_END GT 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|0 1|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 +8 74888616 rs8075 G C 100 PASS AC=42;AF=0.176118;AN=214;NS=2504;DP=10013;EAS_AF=0.1171;AMR_AF=0.1715;AFR_AF=0.2595;EUR_AF=0.1491;SAS_AF=0.1554;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P;1000g2015aug_all=0.176118;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8075;CLNALLELEID=136044;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.06;SIFT_converted_rankscore=0.395;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.775;Polyphen2_HVAR_rankscore=0.552;Polyphen2_HVAR_pred=P;LRT_score=0.985;LRT_converted_rankscore=0.079;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.203;VEST3_rankscore=0.253;MetaSVM_score=-1.016;MetaSVM_rankscore=0.251;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.230;CADD_raw_rankscore=0.329;CADD_phred=17.71;DANN_score=0.995;DANN_rankscore=0.651;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_rankscore=0.212;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.416;Eigen-PC-raw=-0.571;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=2.71;GERP++_RS_rankscore=0.310;phyloP100way_vertebrate=0.908;phyloP100way_vertebrate_rankscore=0.280;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.481;SiPhy_29way_logOdds_rankscore=0.264;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1301;ExAC_nontcga_ALL=0.1755;ExAC_nontcga_AFR=0.3067;ExAC_nontcga_AMR=0.1733;ExAC_nontcga_EAS=0.1031;ExAC_nontcga_FIN=0.1368;ExAC_nontcga_NFE=0.1656;ExAC_nontcga_OTH=0.1931;ExAC_nontcga_SAS=0.1837;AF=0.1659;AF_popmax=0.2742;AF_male=0.1688;AF_female=0.1623;AF_raw=0.1660;AF_afr=0.2742;AF_sas=.;AF_amr=0.1457;AF_eas=0.0970;AF_nfe=0.1276;AF_fin=0.0988;AF_asj=0.2621;AF_oth=0.1488;non_topmed_AF_popmax=0.2741;non_neuro_AF_popmax=0.2761;non_cancer_AF_popmax=.;controls_AF_popmax=0.2838;Kaviar_AF=0.0007309;Kaviar_AC=113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1483664|N/A|E2F4|PAZAR,OREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.798051;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74890961 rs62509309 A G 100 PASS AC=106;AF=0.477835;AN=214;NS=2504;DP=14883;EAS_AF=0.3403;AMR_AF=0.598;AFR_AF=0.5212;EUR_AF=0.4553;SAS_AF=0.499;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.477835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62509309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4551;ExAC_nontcga_ALL=0.4882;ExAC_nontcga_AFR=0.5255;ExAC_nontcga_AMR=0.6376;ExAC_nontcga_EAS=0.3206;ExAC_nontcga_FIN=0.4885;ExAC_nontcga_NFE=0.4595;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5371;AF=0.4734;AF_popmax=0.5792;AF_male=0.4734;AF_female=0.4735;AF_raw=0.4734;AF_afr=0.5241;AF_sas=.;AF_amr=0.5792;AF_eas=0.3486;AF_nfe=0.4486;AF_fin=0.4869;AF_asj=0.4580;AF_oth=0.4756;non_topmed_AF_popmax=0.5854;non_neuro_AF_popmax=0.5670;non_cancer_AF_popmax=.;controls_AF_popmax=0.5574;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.477835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62509309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4551;ExAC_nontcga_ALL=0.4882;ExAC_nontcga_AFR=0.5255;ExAC_nontcga_AMR=0.6376;ExAC_nontcga_EAS=0.3206;ExAC_nontcga_FIN=0.4885;ExAC_nontcga_NFE=0.4595;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5371;AF=0.4734;AF_popmax=0.5792;AF_male=0.4734;AF_female=0.4735;AF_raw=0.4734;AF_afr=0.5241;AF_sas=.;AF_amr=0.5792;AF_eas=0.3486;AF_nfe=0.4486;AF_fin=0.4869;AF_asj=0.4580;AF_oth=0.4756;non_topmed_AF_popmax=0.5854;non_neuro_AF_popmax=0.5670;non_cancer_AF_popmax=.;controls_AF_popmax=0.5574;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|0 1|0 +8 74890985 rs113669789 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=16312;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113669789;CLNALLELEID=141380;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0015;AF=0.0023;AF_popmax=0.0035;AF_male=0.0024;AF_female=0.0021;AF_raw=0.0023;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0047;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.973845;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113669789;CLNALLELEID=141380;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0015;AF=0.0023;AF_popmax=0.0035;AF_male=0.0024;AF_female=0.0021;AF_raw=0.0023;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0047;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.973845;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74891164 rs75674446 A G 100 PASS AC=42;AF=0.186102;AN=214;NS=2504;DP=18652;EAS_AF=0.1161;AMR_AF=0.1772;AFR_AF=0.295;EUR_AF=0.1491;SAS_AF=0.1554;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75674446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1730;AF_popmax=0.2991;AF_male=0.1757;AF_female=0.1695;AF_raw=0.1728;AF_afr=0.2991;AF_sas=.;AF_amr=0.1478;AF_eas=0.0968;AF_nfe=0.1276;AF_fin=0.0990;AF_asj=0.2639;AF_oth=0.1522;non_topmed_AF_popmax=0.2991;non_neuro_AF_popmax=0.2989;non_cancer_AF_popmax=.;controls_AF_popmax=0.3079;Kaviar_AF=0.0274964;Kaviar_AC=4251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75674446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1730;AF_popmax=0.2991;AF_male=0.1757;AF_female=0.1695;AF_raw=0.1728;AF_afr=0.2991;AF_sas=.;AF_amr=0.1478;AF_eas=0.0968;AF_nfe=0.1276;AF_fin=0.0990;AF_asj=0.2639;AF_oth=0.1522;non_topmed_AF_popmax=0.2991;non_neuro_AF_popmax=0.2989;non_cancer_AF_popmax=.;controls_AF_popmax=0.3079;Kaviar_AF=0.0274964;Kaviar_AC=4251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893419 rs61732273 C G 100 PASS AC=3;AF=0.0227636;AN=214;NS=2504;DP=20007;EAS_AF=0.0198;AMR_AF=0.0159;AFR_AF=0.0257;EUR_AF=0.0189;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C346G:p.L116V;1000g2015aug_all=0.0227636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61732273;CLNALLELEID=136045;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_rankscore=0.198;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.235;MutationTaster_pred=N;MutationAssessor_score=0.83;MutationAssessor_score_rankscore=0.210;MutationAssessor_pred=L;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.191;PROVEAN_pred=N;VEST3_score=0.076;VEST3_rankscore=0.067;MetaSVM_score=-0.988;MetaSVM_rankscore=0.331;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.106;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.907;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.501;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.073;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.795;Eigen-PC-raw=-1.870;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-9.73;GERP++_RS_rankscore=0.004;phyloP100way_vertebrate=-0.030;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.476;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.011;phastCons100way_vertebrate_rankscore=0.184;phastCons20way_mammalian=0.313;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=1.839;SiPhy_29way_logOdds_rankscore=0.029;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0241;ExAC_nontcga_AFR=0.0176;ExAC_nontcga_AMR=0.0164;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0472;ExAC_nontcga_NFE=0.0206;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0387;AF=0.0231;AF_popmax=0.0215;AF_male=0.0228;AF_female=0.0235;AF_raw=0.0231;AF_afr=0.0185;AF_sas=.;AF_amr=0.0142;AF_eas=0.0186;AF_nfe=0.0215;AF_fin=0.0429;AF_asj=0.0345;AF_oth=0.0303;non_topmed_AF_popmax=0.0218;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0223218;Kaviar_AC=3451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302981;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893653 rs77410280 G A 100 PASS AC=5;AF=0.0071885;AN=214;NS=2504;DP=20433;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.G580A:p.V194M;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77410280;CLNALLELEID=215388;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.922;Polyphen2_HDIV_rankscore=0.492;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_rankscore=0.545;Polyphen2_HVAR_pred=P;LRT_score=0.057;LRT_converted_rankscore=0.225;LRT_pred=N;MutationTaster_score=0.946;MutationTaster_converted_rankscore=0.375;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.100;MetaSVM_score=-0.568;MetaSVM_rankscore=0.661;MetaSVM_pred=T;MetaLR_score=0.156;MetaLR_rankscore=0.488;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.199;REVEL_rankscore=0.487;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.759;CADD_raw_rankscore=0.166;CADD_phred=9.206;DANN_score=0.995;DANN_rankscore=0.693;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.599;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.013;Eigen-PC-raw=-0.066;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=3.56;GERP++_RS_rankscore=0.397;phyloP100way_vertebrate=2.968;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.132;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=14.893;SiPhy_29way_logOdds_rankscore=0.701;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0120;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0174;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0072;AF=0.0121;AF_popmax=0.0172;AF_male=0.0109;AF_female=0.0136;AF_raw=0.0121;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0172;AF_fin=0.0175;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0174;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0221;Kaviar_AF=0.0122896;Kaviar_AC=1900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000432|hsa-miR-141-3p|Experimental,MIMAT0002816|hsa-miR-494-3p|Experimental,MIMAT0000682|hsa-miR-200a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338101;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893727 rs540563357 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A654G:p.S218S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540563357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.178e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000426|hsa-miR-132-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.245887;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +8 74893821 rs1053079 A G 100 PASS AC=45;AF=0.258986;AN=214;NS=2504;DP=20707;EAS_AF=0.1478;AMR_AF=0.3631;AFR_AF=0.3971;EUR_AF=0.169;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A748G:p.T250A;1000g2015aug_all=0.258986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053079;CLNALLELEID=136046;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.772;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_converted_rankscore=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.99;MutationAssessor_score_rankscore=0.012;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-0.969;MetaSVM_rankscore=0.374;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-3.329;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.180;DANN_rankscore=0.005;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.309;Eigen-PC-raw=-2.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.434;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=-2.28;GERP++_RS_rankscore=0.064;phyloP100way_vertebrate=-1.205;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-0.936;phyloP20way_mammalian_rankscore=0.025;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=3.487;SiPhy_29way_logOdds_rankscore=0.071;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000154582.12|ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1556;ExAC_nontcga_ALL=0.2029;ExAC_nontcga_AFR=0.3706;ExAC_nontcga_AMR=0.3666;ExAC_nontcga_EAS=0.1123;ExAC_nontcga_FIN=0.1413;ExAC_nontcga_NFE=0.1586;ExAC_nontcga_OTH=0.2006;ExAC_nontcga_SAS=0.2185;AF=0.2187;AF_popmax=0.3734;AF_male=0.2207;AF_female=0.2161;AF_raw=0.2189;AF_afr=0.3734;AF_sas=.;AF_amr=0.3432;AF_eas=0.1303;AF_nfe=0.1503;AF_fin=0.1418;AF_asj=0.3207;AF_oth=0.1980;non_topmed_AF_popmax=0.3730;non_neuro_AF_popmax=0.3780;non_cancer_AF_popmax=.;controls_AF_popmax=0.3843;Kaviar_AF=0.195114;Kaviar_AC=30165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.679883;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893839 rs542197363 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20591;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C766T:p.H256Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542197363;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.066;SIFT_converted_rankscore=0.361;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_converted_rankscore=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_score_rankscore=0.440;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_converted_rankscore=0.369;FATHMM_pred=T;PROVEAN_score=-1.96;PROVEAN_converted_rankscore=0.454;PROVEAN_pred=N;VEST3_score=0.127;VEST3_rankscore=0.144;MetaSVM_score=-1.072;MetaSVM_rankscore=0.090;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.289;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.307;M-CAP_pred=T;REVEL_score=0.012;REVEL_rankscore=0.015;MutPred_score=0.135;MutPred_rankscore=0.039;CADD_raw=-1.050;CADD_raw_rankscore=0.030;CADD_phred=0.013;DANN_score=0.798;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.177;Eigen-PC-raw=-1.214;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.393;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=0.395;GERP++_RS_rankscore=0.155;phyloP100way_vertebrate=-0.227;phyloP100way_vertebrate_rankscore=0.091;phyloP20way_mammalian=-2.024;phyloP20way_mammalian_rankscore=0.005;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=2.835;SiPhy_29way_logOdds_rankscore=0.051;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.859e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.561e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.653535;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893850 rs1053077 C G 100 PASS AC=45;AF=0.258986;AN=214;NS=2504;DP=20717;EAS_AF=0.1478;AMR_AF=0.3631;AFR_AF=0.3971;EUR_AF=0.169;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C777G:p.D259E;1000g2015aug_all=0.258986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053077;CLNALLELEID=136047;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.237;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-2.3;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=0.75;PROVEAN_converted_rankscore=0.020;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.020;MetaSVM_score=-0.953;MetaSVM_rankscore=0.405;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.736;CADD_raw_rankscore=0.012;CADD_phred=0.002;DANN_score=0.498;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_rankscore=0.100;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.324;Eigen-PC-raw=-1.203;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.431;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=-1.73;GERP++_RS_rankscore=0.076;phyloP100way_vertebrate=0.026;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=-0.203;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.638;phastCons100way_vertebrate_rankscore=0.278;phastCons20way_mammalian=0.085;phastCons20way_mammalian_rankscore=0.183;SiPhy_29way_logOdds=0.924;SiPhy_29way_logOdds_rankscore=0.012;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000154582.12|ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1556;ExAC_nontcga_ALL=0.2028;ExAC_nontcga_AFR=0.3708;ExAC_nontcga_AMR=0.3650;ExAC_nontcga_EAS=0.1122;ExAC_nontcga_FIN=0.1404;ExAC_nontcga_NFE=0.1589;ExAC_nontcga_OTH=0.2006;ExAC_nontcga_SAS=0.2186;AF=0.2188;AF_popmax=0.3734;AF_male=0.2208;AF_female=0.2162;AF_raw=0.2189;AF_afr=0.3734;AF_sas=.;AF_amr=0.3440;AF_eas=0.1303;AF_nfe=0.1503;AF_fin=0.1421;AF_asj=0.3207;AF_oth=0.1993;non_topmed_AF_popmax=0.3730;non_neuro_AF_popmax=0.3786;non_cancer_AF_popmax=.;controls_AF_popmax=0.3845;Kaviar_AF=0.192999;Kaviar_AC=29838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.677492;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893880 rs7108 C T 100 PASS AC=106;AF=0.47504;AN=214;NS=2504;DP=20626;EAS_AF=0.3403;AMR_AF=0.5951;AFR_AF=0.5121;EUR_AF=0.4553;SAS_AF=0.499;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TMEM70;GeneDetail.refGene=NM_001040613:c.*497C>T\x3bNM_017866:c.*24C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.47504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7108;CLNALLELEID=315225;CLNDN=Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4513;ExAC_nontcga_ALL=0.4970;ExAC_nontcga_AFR=0.5267;ExAC_nontcga_AMR=0.6377;ExAC_nontcga_EAS=0.3373;ExAC_nontcga_FIN=0.4904;ExAC_nontcga_NFE=0.4710;ExAC_nontcga_OTH=0.4970;ExAC_nontcga_SAS=0.5442;AF=0.4725;AF_popmax=0.5790;AF_male=0.4722;AF_female=0.4727;AF_raw=0.4721;AF_afr=0.5187;AF_sas=.;AF_amr=0.5790;AF_eas=0.3473;AF_nfe=0.4498;AF_fin=0.4873;AF_asj=0.4621;AF_oth=0.4743;non_topmed_AF_popmax=0.5852;non_neuro_AF_popmax=0.5668;non_cancer_AF_popmax=.;controls_AF_popmax=0.5610;Kaviar_AF=0.459774;Kaviar_AC=71082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000418|hsa-miR-23b-3p|Experimental,MIMAT0000078|hsa-miR-23a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.799980;ALLELE_END GT 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|0 1|0 +9 7161999 rs144877987 A C 100 PASS AC=6;AF=0.00599042;AN=214;NS=2504;DP=19724;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144877987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0101;AF_popmax=0.0156;AF_male=0.0101;AF_female=0.0100;AF_raw=0.0101;AF_afr=0.0028;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0156;AF_fin=0.0072;AF_asj=0.0035;AF_oth=0.0129;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0121024;Kaviar_AC=315;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +9 7162001 rs543610408 CT C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=TT|TT|T|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543610408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0011;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0008;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0172;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162074 rs147959309 A C 100 PASS AC=5;AF=0.0061901;AN=214;NS=2504;DP=19005;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147959309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0076;AF_popmax=0.0142;AF_male=0.0073;AF_female=0.0080;AF_raw=0.0076;AF_afr=0.0022;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0112571;Kaviar_AC=293;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162249 rs555297162 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20078;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555297162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162351 rs7868863 G A 100 PASS AC=73;AF=0.126797;AN=214;NS=2504;DP=18293;EAS_AF=0.001;AMR_AF=0.147;AFR_AF=0.18;EUR_AF=0.2157;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7868863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1647;AF_popmax=0.1884;AF_male=0.1655;AF_female=0.1637;AF_raw=0.1649;AF_afr=0.1675;AF_sas=.;AF_amr=0.1608;AF_eas=0.0032;AF_nfe=0.1884;AF_fin=0.1171;AF_asj=0.2897;AF_oth=0.1611;non_topmed_AF_popmax=0.1846;non_neuro_AF_popmax=0.1896;non_cancer_AF_popmax=.;controls_AF_popmax=0.2114;Kaviar_AF=0.167704;Kaviar_AC=4365;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 +9 7162437 rs141088316 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18748;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141088316;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006147;Kaviar_AC=16;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650692 rs145006100 G A 100 PASS AC=9;AF=0.00758786;AN=214;NS=2504;DP=10512;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=FXN;GeneDetail.refGene=NM_000144:c.-7G>A\x3bNM_181425:c.-7G>A\x3bNM_001161706:c.-7G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145006100;CLNALLELEID=190215;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0174;ExAC_nontcga_AMR=0.0122;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0262;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0056;AF=0.0187;AF_popmax=0.0292;AF_male=0.0196;AF_female=0.0176;AF_raw=0.0187;AF_afr=0.0050;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0292;AF_fin=0.0159;AF_asj=0.0139;AF_oth=0.0203;non_topmed_AF_popmax=0.0284;non_neuro_AF_popmax=0.0279;non_cancer_AF_popmax=.;controls_AF_popmax=0.0227;Kaviar_AF=0.0045601;Kaviar_AC=705;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.411050;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650752 rs2481598 A G 100 PASS AC=214;AF=0.984824;AN=214;NS=2504;DP=9396;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9433;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P;1000g2015aug_all=0.984824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2481598;CLNALLELEID=134566;CLNDN=Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.9993;ExAC_nontcga_AFR=0.9709;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9866;AF_popmax=1;AF_male=0.9860;AF_female=0.9874;AF_raw=0.9864;AF_afr=0.9524;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.273865;Kaviar_AC=42340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.530374;ALLELE_END GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +9 71650878 rs540739863 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=8939;EAS_AF=0.005;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540739863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0006;AF_popmax=0.0116;AF_male=0.0008;AF_female=0.0003;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0116;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0119;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0110;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1481069|N/A|E2F4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1551842|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.574388;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650906 rs571572380 G GGCCGCAC 100 PASS AC=4;AF=0.00339457;AN=214;NS=2504;DP=10615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0112;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571572380;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0061;AF_popmax=0.0096;AF_male=0.0064;AF_female=0.0058;AF_raw=0.0062;AF_afr=0.0018;AF_sas=.;AF_amr=0.0039;AF_eas=0;AF_nfe=0.0096;AF_fin=0.0025;AF_asj=0.0210;AF_oth=0.0076;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0135;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1551842|N/A|ETS1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.638668;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71661314 rs141858334 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=20280;EAS_AF=0.0079;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FXN:NM_000144:exon2:c.G179A:p.R60H,FXN:NM_001161706:exon2:c.G179A:p.R60H,FXN:NM_181425:exon2:c.G179A:p.R60H;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141858334;CLNALLELEID=207727;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.506;SIFT_converted_rankscore=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.611;LRT_converted_rankscore=0.057;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.035;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_converted_rankscore=0.958;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.055;MetaSVM_score=-0.336;MetaSVM_rankscore=0.740;MetaSVM_pred=T;MetaLR_score=0.570;MetaLR_rankscore=0.844;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.502;M-CAP_pred=D;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.060;CADD_raw_rankscore=0.088;CADD_phred=2.046;DANN_score=0.540;DANN_rankscore=0.050;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.017;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.395;Eigen-PC-raw=-1.412;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.89;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-0.155;phyloP100way_vertebrate_rankscore=0.100;phyloP20way_mammalian=-0.607;phyloP20way_mammalian_rankscore=0.043;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.023;phastCons20way_mammalian_rankscore=0.138;SiPhy_29way_logOdds=9.639;SiPhy_29way_logOdds_rankscore=0.388;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0032;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.865e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0039;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940842;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71667986 rs7865353 G A 100 PASS AC=86;AF=0.349241;AN=214;NS=2504;DP=15402;EAS_AF=0.3631;AMR_AF=0.4135;AFR_AF=0.2474;EUR_AF=0.4105;SAS_AF=0.364;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.349241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7865353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4027;AF_popmax=0.4445;AF_male=0.3988;AF_female=0.4076;AF_raw=0.4035;AF_afr=0.2878;AF_sas=.;AF_amr=0.4157;AF_eas=0.3476;AF_nfe=0.4445;AF_fin=0.5286;AF_asj=0.3472;AF_oth=0.4279;non_topmed_AF_popmax=0.4535;non_neuro_AF_popmax=0.4444;non_cancer_AF_popmax=.;controls_AF_popmax=0.4744;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.008776;ALLELE_END GT 0|0 1|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|1 1|1 0|1 1|1 1|0 0|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|0 +9 71668197 rs3829062 T C 100 PASS AC=120;AF=0.501597;AN=214;NS=2504;DP=16276;EAS_AF=0.5645;AMR_AF=0.5476;AFR_AF=0.3964;EUR_AF=0.5338;SAS_AF=0.5133;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.501597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5149;ExAC_nontcga_ALL=0.5195;ExAC_nontcga_AFR=0.4008;ExAC_nontcga_AMR=0.5623;ExAC_nontcga_EAS=0.5699;ExAC_nontcga_FIN=0.4217;ExAC_nontcga_NFE=0.5329;ExAC_nontcga_OTH=0.5159;ExAC_nontcga_SAS=0.5264;AF=0.4729;AF_popmax=0.5759;AF_male=0.4739;AF_female=0.4716;AF_raw=0.4726;AF_afr=0.3917;AF_sas=.;AF_amr=0.5519;AF_eas=0.5759;AF_nfe=0.5127;AF_fin=0.4146;AF_asj=0.5966;AF_oth=0.5028;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5759;non_cancer_AF_popmax=.;controls_AF_popmax=0.5650;Kaviar_AF=0.513253;Kaviar_AC=79350;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.951041;ALLELE_END GT 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 1|1 1|1 0|0 0|0 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|0 0|0 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 +9 71680034 rs138487334 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=7775;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138487334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138487334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71687440 rs7025834 C T 100 PASS AC=91;AF=0.467053;AN=214;NS=2504;DP=20294;EAS_AF=0.5694;AMR_AF=0.5418;AFR_AF=0.4009;EUR_AF=0.4314;SAS_AF=0.4346;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.467053;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7025834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4079;AF_popmax=0.5781;AF_male=0.4114;AF_female=0.4035;AF_raw=0.4081;AF_afr=0.4032;AF_sas=.;AF_amr=0.5653;AF_eas=0.5781;AF_nfe=0.3999;AF_fin=0.3434;AF_asj=0.3793;AF_oth=0.4072;non_topmed_AF_popmax=0.5787;non_neuro_AF_popmax=0.5781;non_cancer_AF_popmax=.;controls_AF_popmax=0.5656;Kaviar_AF=0.0843585;Kaviar_AC=13042;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|1 0|0 0|0 1|1 1|1 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|1 1|0 0|0 0|1 1|0 0|0 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|1 1|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 +9 71687451 rs186580424 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19972;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186580424;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0059;AF_male=0.0021;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0017;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.314843;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103340369 rs1226590 G A 100 PASS AC=84;AF=0.302915;AN=214;NS=2504;DP=20078;EAS_AF=0.0804;AMR_AF=0.4827;AFR_AF=0.264;EUR_AF=0.4245;SAS_AF=0.3323;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CAVIN4;GeneDetail.refGene=NM_001018116:c.-57G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302915;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1226590;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3741;AF_popmax=0.4917;AF_male=0.3684;AF_female=0.3811;AF_raw=0.3736;AF_afr=0.2951;AF_sas=.;AF_amr=0.4917;AF_eas=0.1080;AF_nfe=0.4305;AF_fin=0.3956;AF_asj=0.4241;AF_oth=0.4127;non_topmed_AF_popmax=0.4938;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.5163;Kaviar_AF=0.0763574;Kaviar_AC=11805;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.401515::-0.146799;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000888957|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 +9 103340875 rs1226589 T C 100 PASS AC=65;AF=0.210663;AN=214;NS=2504;DP=19054;EAS_AF=0.003;AMR_AF=0.4395;AFR_AF=0.1853;EUR_AF=0.3469;SAS_AF=0.1564;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1226589;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3068;ExAC_nontcga_ALL=0.2925;ExAC_nontcga_AFR=0.2140;ExAC_nontcga_AMR=0.4891;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.3700;ExAC_nontcga_NFE=0.3237;ExAC_nontcga_OTH=0.2924;ExAC_nontcga_SAS=0.2048;AF=0.2925;AF_popmax=0.4481;AF_male=0.2854;AF_female=0.3013;AF_raw=0.2929;AF_afr=0.2083;AF_sas=.;AF_amr=0.4481;AF_eas=0.0058;AF_nfe=0.3442;AF_fin=0.3512;AF_asj=0.3069;AF_oth=0.3318;non_topmed_AF_popmax=0.4481;non_neuro_AF_popmax=0.4206;non_cancer_AF_popmax=.;controls_AF_popmax=0.4472;Kaviar_AF=0.281607;Kaviar_AC=43537;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.329044::0.121283;ENSEMBLReg=Name\x3dENSR00000888957|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 +9 103348157 rs145794010 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G519C:p.S173S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145794010;CLNALLELEID=229637;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166246;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348208 rs28623148 A T 100 PASS AC=4;AF=0.117812;AN=214;NS=2504;DP=21179;EAS_AF=0.2232;AMR_AF=0.0418;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.2474;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A570T:p.S190S;1000g2015aug_all=0.117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28623148;CLNALLELEID=229638;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0678;ExAC_nontcga_AFR=0.0559;ExAC_nontcga_AMR=0.0330;ExAC_nontcga_EAS=0.2182;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0.0548;ExAC_nontcga_SAS=0.1917;AF=0.0393;AF_popmax=0.2088;AF_male=0.0425;AF_female=0.0354;AF_raw=0.0394;AF_afr=0.0525;AF_sas=.;AF_amr=0.0377;AF_eas=0.2088;AF_nfe=0.0216;AF_fin=0.0109;AF_asj=0.0207;AF_oth=0.0404;non_topmed_AF_popmax=0.2074;non_neuro_AF_popmax=0.2088;non_cancer_AF_popmax=.;controls_AF_popmax=0.2088;Kaviar_AF=0.0598957;Kaviar_AC=9260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.394332;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +9 103348340 rs139982824 A G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18979;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A702G:p.L234L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139982824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0026;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0026;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.012559;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348343 rs143433142 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18818;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G705A:p.R235R;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143433142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.325290;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348352 rs146549670 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A714G:p.G238G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146549670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.428835;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348538 rs145774333 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14818;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.C900T:p.S300S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145774333;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.576170;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348634 rs2780956 G A 100 PASS AC=84;AF=0.293331;AN=214;NS=2504;DP=15010;EAS_AF=0.0804;AMR_AF=0.4784;AFR_AF=0.2405;EUR_AF=0.4254;SAS_AF=0.317;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G996A:p.R332R;1000g2015aug_all=0.293331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2780956;CLNALLELEID=229643;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4166;ExAC_nontcga_ALL=0.3697;ExAC_nontcga_AFR=0.2898;ExAC_nontcga_AMR=0.5213;ExAC_nontcga_EAS=0.0857;ExAC_nontcga_FIN=0.4171;ExAC_nontcga_NFE=0.4021;ExAC_nontcga_OTH=0.3646;ExAC_nontcga_SAS=0.3195;AF=0.3679;AF_popmax=0.4929;AF_male=0.3619;AF_female=0.3754;AF_raw=0.3676;AF_afr=0.2792;AF_sas=.;AF_amr=0.4929;AF_eas=0.1080;AF_nfe=0.4275;AF_fin=0.3950;AF_asj=0.4167;AF_oth=0.4083;non_topmed_AF_popmax=0.4950;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.5163;Kaviar_AF=0.370396;Kaviar_AC=57264;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.397727::-0.152916;Heart_Left_Ventricle=Heart_Left_Ventricle::0.400735::0.111962;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.267874;ALLELE_END GT 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 +9 108363426 rs41277797 C T 100 PASS AC=8;AF=0.0103834;AN=214;NS=2504;DP=18049;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0318;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon4:c.C166T:p.R56C,FKTN:NM_006731:exon4:c.C166T:p.R56C,FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C,FKTN:NM_001351496:exon6:c.C166T:p.R56C,FKTN:NM_001351497:exon7:c.C97T:p.R33C;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277797;CLNALLELEID=99422;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.047;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.917;Polyphen2_HVAR_rankscore=0.635;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.473;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.913;FATHMM_pred=D;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.752;PROVEAN_pred=N;VEST3_score=0.273;VEST3_rankscore=0.547;MetaSVM_score=0.176;MetaSVM_rankscore=0.855;MetaSVM_pred=D;MetaLR_score=0.549;MetaLR_rankscore=0.835;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.704;CADD_raw_rankscore=0.778;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.624;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.533;Eigen-PC-raw=0.562;GenoCanyon_score=0.928;GenoCanyon_score_rankscore=0.269;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=2.540;phyloP100way_vertebrate_rankscore=0.451;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.651;SiPhy_29way_logOdds_rankscore=0.616;Interpro_domain=.;GTEx_V6p_gene=ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9;GTEx_V6p_tissue=Adipose_Subcutaneous|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=0.9959;dbscSNV_RF_SCORE=0.826;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=0.0231;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0157;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0371;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0235;ExAC_nontcga_SAS=0.0027;AF=0.0183;AF_popmax=0.0245;AF_male=0.0179;AF_female=0.0188;AF_raw=0.0183;AF_afr=0.0049;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0245;AF_fin=0.0291;AF_asj=0.0069;AF_oth=0.0285;non_topmed_AF_popmax=0.0235;non_neuro_AF_popmax=0.0245;non_cancer_AF_popmax=.;controls_AF_popmax=0.0183;Kaviar_AF=0.0183503;Kaviar_AC=2837;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.186017;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +9 108366499 rs34006675 G A 100 PASS AC=1;AF=0.0371406;AN=214;NS=2504;DP=19669;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1263;EUR_AF=0.008;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon5:c.G373A:p.G125S,FKTN:NM_006731:exon5:c.G373A:p.G125S,FKTN:NM_001079802:exon6:c.G373A:p.G125S,FKTN:NM_001198963:exon6:c.G373A:p.G125S,FKTN:NM_001351496:exon7:c.G373A:p.G125S,FKTN:NM_001351497:exon8:c.G304A:p.G102S;1000g2015aug_all=0.0371406;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34006675;CLNALLELEID=18250;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.362;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_rankscore=0.512;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=P;LRT_score=0.185;LRT_converted_rankscore=0.170;LRT_pred=N;MutationTaster_score=0.559;MutationTaster_converted_rankscore=0.312;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-2.26;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_converted_rankscore=0.214;PROVEAN_pred=N;VEST3_score=0.158;VEST3_rankscore=0.409;MetaSVM_score=-0.852;MetaSVM_rankscore=0.518;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.055;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.784;CADD_raw_rankscore=0.275;CADD_phred=14.89;DANN_score=0.996;DANN_rankscore=0.753;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_rankscore=0.376;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.202;Eigen-PC-raw=-0.115;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.096;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=1.71;GERP++_RS_rankscore=0.233;phyloP100way_vertebrate=1.684;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.405;SiPhy_29way_logOdds_rankscore=0.374;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0152;ExAC_nontcga_AFR=0.0944;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0060;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0028;AF=0.0319;AF_popmax=0.0884;AF_male=0.0313;AF_female=0.0327;AF_raw=0.0319;AF_afr=0.0884;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0185;non_topmed_AF_popmax=0.0886;non_neuro_AF_popmax=0.0852;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.015569;Kaviar_AC=2407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128450;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108366734 rs34787999 G A 100 PASS AC=55;AF=0.158147;AN=214;NS=2504;DP=16548;EAS_AF=0.0913;AMR_AF=0.2205;AFR_AF=0.1339;EUR_AF=0.2724;SAS_AF=0.0982;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon5:c.G608A:p.R203Q,FKTN:NM_006731:exon5:c.G608A:p.R203Q,FKTN:NM_001079802:exon6:c.G608A:p.R203Q,FKTN:NM_001198963:exon6:c.G608A:p.R203Q,FKTN:NM_001351501:exon6:c.G212A:p.R71Q,FKTN:NM_001351496:exon7:c.G608A:p.R203Q,FKTN:NM_001351500:exon7:c.G212A:p.R71Q,FKTN:NM_001351497:exon8:c.G539A:p.R180Q,FKTN:NM_001351499:exon8:c.G212A:p.R71Q,FKTN:NM_001351502:exon9:c.G212A:p.R71Q;1000g2015aug_all=0.158147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34787999;CLNALLELEID=99427;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.202;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.515;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_rankscore=0.350;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.352;LRT_pred=N;MutationTaster_score=0.078;MutationTaster_converted_rankscore=0.367;MutationTaster_pred=P;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=-2.41;FATHMM_converted_rankscore=0.907;FATHMM_pred=D;PROVEAN_score=-0.32;PROVEAN_converted_rankscore=0.360;PROVEAN_pred=N;VEST3_score=0.066;VEST3_rankscore=0.124;MetaSVM_score=-1.150;MetaSVM_rankscore=0.010;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.672;CADD_raw_rankscore=0.498;CADD_phred=23.3;DANN_score=0.999;DANN_rankscore=0.962;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_rankscore=0.517;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.344;GenoCanyon_score=0.564;GenoCanyon_score_rankscore=0.214;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.36;GERP++_RS_rankscore=0.765;phyloP100way_vertebrate=4.486;phyloP100way_vertebrate_rankscore=0.598;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=11.545;SiPhy_29way_logOdds_rankscore=0.498;Interpro_domain=.;GTEx_V6p_gene=ENSG00000106692.9;GTEx_V6p_tissue=Esophagus_Muscularis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3190;ExAC_nontcga_ALL=0.2392;ExAC_nontcga_AFR=0.1598;ExAC_nontcga_AMR=0.2685;ExAC_nontcga_EAS=0.0940;ExAC_nontcga_FIN=0.2919;ExAC_nontcga_NFE=0.3049;ExAC_nontcga_OTH=0.2248;ExAC_nontcga_SAS=0.0940;AF=0.2578;AF_popmax=0.3227;AF_male=0.2569;AF_female=0.2589;AF_raw=0.2577;AF_afr=0.1591;AF_sas=.;AF_amr=0.2713;AF_eas=0.0951;AF_nfe=0.3227;AF_fin=0.2753;AF_asj=0.2797;AF_oth=0.2873;non_topmed_AF_popmax=0.3273;non_neuro_AF_popmax=0.3226;non_cancer_AF_popmax=.;controls_AF_popmax=0.3351;Kaviar_AF=0.248975;Kaviar_AC=38492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.290441::-0.202686;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.339457;ALLELE_END GT 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +9 108370163 rs562170364 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13801;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon6:c.C711G:p.H237Q,FKTN:NM_006731:exon6:c.C711G:p.H237Q,FKTN:NM_001079802:exon7:c.C711G:p.H237Q,FKTN:NM_001198963:exon7:c.C711G:p.H237Q,FKTN:NM_001351501:exon7:c.C315G:p.H105Q,FKTN:NM_001351496:exon8:c.C711G:p.H237Q,FKTN:NM_001351500:exon8:c.C315G:p.H105Q,FKTN:NM_001351497:exon9:c.C642G:p.H214Q,FKTN:NM_001351499:exon9:c.C315G:p.H105Q,FKTN:NM_001351502:exon10:c.C315G:p.H105Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562170364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.621;SIFT_converted_rankscore=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.226;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.181;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_converted_rankscore=0.221;LRT_pred=N;MutationTaster_score=0.544;MutationTaster_converted_rankscore=0.314;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=0.17;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.186;VEST3_rankscore=0.227;MetaSVM_score=-0.324;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.481;MetaLR_rankscore=0.802;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.649;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=0.281;MutPred_rankscore=0.237;CADD_raw=2.079;CADD_raw_rankscore=0.311;CADD_phred=16.72;DANN_score=0.928;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.508;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.050;GenoCanyon_score=0.162;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.61;GERP++_RS_rankscore=0.853;phyloP100way_vertebrate=1.150;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.847;phyloP20way_mammalian_rankscore=0.346;phastCons100way_vertebrate=0.743;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.952;phastCons20way_mammalian_rankscore=0.428;SiPhy_29way_logOdds=7.657;SiPhy_29way_logOdds_rankscore=0.274;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000093|hsa-miR-93-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.048201;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108380223 rs201625324 T A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=10238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201625324;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +9 108380355 rs17309806 C A 100 PASS AC=55;AF=0.178315;AN=214;NS=2504;DP=16658;EAS_AF=0.0903;AMR_AF=0.2248;AFR_AF=0.2088;EUR_AF=0.2724;SAS_AF=0.0982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon8:c.C1026A:p.L342L,FKTN:NM_006731:exon8:c.C1026A:p.L342L,FKTN:NM_001079802:exon9:c.C1026A:p.L342L,FKTN:NM_001198963:exon9:c.C1026A:p.L342L,FKTN:NM_001351501:exon9:c.C630A:p.L210L,FKTN:NM_001351496:exon10:c.C1026A:p.L342L,FKTN:NM_001351500:exon10:c.C630A:p.L210L,FKTN:NM_001351497:exon11:c.C957A:p.L319L,FKTN:NM_001351499:exon11:c.C630A:p.L210L,FKTN:NM_001351502:exon12:c.C630A:p.L210L;1000g2015aug_all=0.178315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17309806;CLNALLELEID=99415;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive|not_provided;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3177;ExAC_nontcga_ALL=0.2463;ExAC_nontcga_AFR=0.2375;ExAC_nontcga_AMR=0.2711;ExAC_nontcga_EAS=0.0927;ExAC_nontcga_FIN=0.2915;ExAC_nontcga_NFE=0.3055;ExAC_nontcga_OTH=0.2254;ExAC_nontcga_SAS=0.0949;AF=0.2794;AF_popmax=0.3218;AF_male=0.2799;AF_female=0.2787;AF_raw=0.2793;AF_afr=0.2374;AF_sas=.;AF_amr=0.2801;AF_eas=0.0951;AF_nfe=0.3218;AF_fin=0.2741;AF_asj=0.2793;AF_oth=0.2943;non_topmed_AF_popmax=0.3262;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3339;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.998867;ALLELE_END GT 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +9 108380417 rs118064041 A G 100 PASS AC=4;AF=0.0113818;AN=214;NS=2504;DP=17071;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0298;SAS_AF=0.0082;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0113818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118064041;CLNALLELEID=253258;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0375;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0065;ExAC_nontcga_AMR=0.0121;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0406;ExAC_nontcga_OTH=0.0233;ExAC_nontcga_SAS=0.0096;AF=0.0259;AF_popmax=0.0384;AF_male=0.0247;AF_female=0.0274;AF_raw=0.0259;AF_afr=0.0069;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0384;AF_fin=0.0285;AF_asj=0.0379;AF_oth=0.0360;non_topmed_AF_popmax=0.0385;non_neuro_AF_popmax=0.0394;non_cancer_AF_popmax=.;controls_AF_popmax=0.0369;Kaviar_AF=0.0275288;Kaviar_AC=4256;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108397426 rs199918689 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20911;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.T1267C:p.Y423H,FKTN:NM_001079802:exon11:c.T1267C:p.Y423H,FKTN:NM_001198963:exon11:c.T1267C:p.Y423H,FKTN:NM_001351501:exon11:c.T871C:p.Y291H,FKTN:NM_001351496:exon12:c.T1267C:p.Y423H,FKTN:NM_001351500:exon12:c.T871C:p.Y291H,FKTN:NM_001351497:exon13:c.T1198C:p.Y400H,FKTN:NM_001351499:exon13:c.T871C:p.Y291H,FKTN:NM_001351502:exon14:c.T871C:p.Y291H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199918689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.792;PROVEAN_pred=D;VEST3_score=0.936;VEST3_rankscore=0.940;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.950;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.335;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.907;REVEL_rankscore=0.975;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.116;CADD_raw_rankscore=0.843;CADD_phred=28.3;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.791;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.880;Eigen-PC-raw=0.850;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=7.624;phyloP100way_vertebrate_rankscore=0.822;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.770;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.295213;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.T1267C:p.Y423H,FKTN:NM_001079802:exon11:c.T1267C:p.Y423H,FKTN:NM_001198963:exon11:c.T1267C:p.Y423H,FKTN:NM_001351501:exon11:c.T871C:p.Y291H,FKTN:NM_001351496:exon12:c.T1267C:p.Y423H,FKTN:NM_001351500:exon12:c.T871C:p.Y291H,FKTN:NM_001351497:exon13:c.T1198C:p.Y400H,FKTN:NM_001351499:exon13:c.T871C:p.Y291H,FKTN:NM_001351502:exon14:c.T871C:p.Y291H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199918689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.792;PROVEAN_pred=D;VEST3_score=0.936;VEST3_rankscore=0.940;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.950;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.335;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.907;REVEL_rankscore=0.975;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.116;CADD_raw_rankscore=0.843;CADD_phred=28.3;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.791;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.880;Eigen-PC-raw=0.850;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=7.624;phyloP100way_vertebrate_rankscore=0.822;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.770;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.295213;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131707989 rs140350881 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17753;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.C1594T:p.L532F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140350881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.638;SIFT_converted_rankscore=0.050;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.984;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-1.58;FATHMM_converted_rankscore=0.820;FATHMM_pred=D;PROVEAN_score=0.69;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.864;VEST3_rankscore=0.851;MetaSVM_score=0.000;MetaSVM_rankscore=0.823;MetaSVM_pred=D;MetaLR_score=0.565;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.035;M-CAP_rankscore=0.561;M-CAP_pred=D;REVEL_score=0.577;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.384;CADD_raw_rankscore=0.230;CADD_phred=12.70;DANN_score=0.874;DANN_rankscore=0.167;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.740;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.483;Eigen-PC-raw=0.503;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=5.725;phyloP100way_vertebrate_rankscore=0.679;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.868;SiPhy_29way_logOdds_rankscore=0.629;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000414|hsa-let-7g-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000065|hsa-let-7d-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.807201;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708145 rs144209926 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A1438G:p.I480V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144209926;CLNALLELEID=364144;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.671;SIFT_converted_rankscore=0.045;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=-0.035;MutationAssessor_score_rankscore=0.050;MutationAssessor_pred=N;FATHMM_score=1.58;FATHMM_converted_rankscore=0.291;FATHMM_pred=T;PROVEAN_score=0.17;PROVEAN_converted_rankscore=0.051;PROVEAN_pred=N;VEST3_score=0.125;VEST3_rankscore=0.141;MetaSVM_score=-1.077;MetaSVM_rankscore=0.080;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.091;M-CAP_pred=T;REVEL_score=0.026;REVEL_rankscore=0.059;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.079;CADD_raw_rankscore=0.101;CADD_phred=3.389;DANN_score=0.927;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.874;fathmm-MKL_coding_rankscore=0.467;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.238;Eigen-PC-raw=-0.005;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=3.425;phyloP100way_vertebrate_rankscore=0.523;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.705;SiPhy_29way_logOdds_rankscore=0.687;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.474e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=9.554e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.425746;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708504 rs138453255 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18052;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A1079G:p.Y360C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138453255;CLNALLELEID=229669;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.784;Polyphen2_HVAR_rankscore=0.556;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_converted_rankscore=0.334;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=2.79;MutationAssessor_score_rankscore=0.817;MutationAssessor_pred=M;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-6.34;PROVEAN_converted_rankscore=0.909;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=-0.751;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.496;MetaLR_pred=T;M-CAP_score=0.025;M-CAP_rankscore=0.484;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.446;CADD_raw_rankscore=0.472;CADD_phred=23.0;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.573;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.549;Eigen-PC-raw=0.546;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=5.23;GERP++_RS_rankscore=0.725;phyloP100way_vertebrate=5.914;phyloP100way_vertebrate_rankscore=0.695;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.290;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0010;AF=0.0004;AF_popmax=0.0035;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0013325;Kaviar_AC=206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.593310;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708883 rs139787271 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20773;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A700G:p.M234V;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139787271;CLNALLELEID=101545;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.778;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.336;LRT_pred=N;MutationTaster_score=0.863;MutationTaster_converted_rankscore=0.283;MutationTaster_pred=N;MutationAssessor_score=-1.31;MutationAssessor_score_rankscore=0.007;MutationAssessor_pred=N;FATHMM_score=-1.64;FATHMM_converted_rankscore=0.825;FATHMM_pred=D;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.113;VEST3_rankscore=0.123;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.155;MetaLR_rankscore=0.487;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.200;M-CAP_pred=T;REVEL_score=0.135;REVEL_rankscore=0.371;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.828;CADD_raw_rankscore=0.039;CADD_phred=0.037;DANN_score=0.804;DANN_rankscore=0.128;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.507;Eigen-PC-raw=-0.310;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.490;integrated_confidence_value=0;GERP++_RS=2.65;GERP++_RS_rankscore=0.305;phyloP100way_vertebrate=2.618;phyloP100way_vertebrate_rankscore=0.458;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=0.654;SiPhy_29way_logOdds_rankscore=0.008;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0015;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000241930|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253658|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.681988;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131709581 rs531969689 A AT 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=16230;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|T|TT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DOLK:NM_014908:exon1:c.1dupA:p.M1fs;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531969689;CLNALLELEID=177679;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0090;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0009;AF=0.0066;AF_popmax=0.0097;AF_male=0.0063;AF_female=0.0071;AF_raw=0.0067;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0097;AF_fin=0.0092;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0117;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000241930|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1223386|N/A|SMARCA4|PAZAR,OREG1798525|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.197933;ALLELE_END GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/VINYL_output1_test.tabular Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,3740 @@ +CHR start gene ref alt AC 1000g2015aug_all AF_nfe CADD_raw CLNDISDB CLNDN CLNSIG ENSEMBLReg ENSTFBS ENSmiRNA ExAC_nontcga_NFE ExonicFunc.refGene Func.refGene GWAS Kaviar_AF MetaSVM_pred ORegAnno_REGULATORY_R ORegAnno_REGULATORY_TFBS ORegmiRNA Polyphen2_HDIV_pred SIFT_pred dbscSNV_ADA_SCORE dbscSNV_RF_SCORE esp6500siv2_ea nCER95 VINYL_score +10 18429624 CACNB2 C A 11 0.0301518 0.0379 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025190|Promoter . . 0.0458 . UTR5 . 0.026261 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0316 Name\x3d99.338950 1 +10 18429627 CACNB2 C T 1 0.000199681 . . . . . Name\x3dENSR00000025190|Promoter . . 5.08e-05 . UTR5 . 6.5e-06 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.338950 5 +10 18429839 CACNB2 C T 1 0.000399361 0.0022 . . . . Name\x3dENSR00000025190|Promoter . . . . UTR5 . 0.0010758 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.266735 3 +10 18430167 CACNB2 G C 9 0.00798722 0.0135 . . . . Name\x3dENSR00000025190|Promoter . . 0.0339 . intronic . 0.0074967 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0274 Name\x3d99.128546 1 +10 18430169 CACNB2 G T 1 0.0091853 . . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0008085 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.128546 3 +10 18430220 CACNB2 G A 34 0.107628 0.1136 . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0210799 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d97.519956 1 +10 18439747 CACNB2 C T 31 0.0970447 0.1121 . . . . . . . . . intronic . 0.0184862 . . . . . . . . . . -2 +10 18439784 CACNB2 CTTTTTTT C 7 0.0900559 . . MedGen:C2678477,OMIM:611876 Brugada_syndrome_4 Likely_benign . . . 0.0021 . intronic . 0.0008538 . . . . . . . . . . -2 +10 18439900 CACNB2 G A 1 0.000599042 0.0011 6.628 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0007956 D . . . P D . . 0.0009 Name\x3d98.971007 4 +10 18439926 CACNB2 T C 27 0.0632987 0.1094 . . . . . . . 0.1308 . intronic . 0.0965641 . . . . . . . . 0.1213 . -2 +10 18439993 CACNB2 A C 3 0.00179712 0.0055 . . . . . . . . . intronic . 0.0007697 . . . . . . . . . . 4 +10 18691018 CACNB2 G A 116 0.391973 0.5037 . . . . . . . 0.5044 . intronic . 0.0029819 . . . . . . . . 0.5115 Name\x3d98.003371 -1 +10 18691019 CACNB2 C A 2 0.00159744 0.0073 . . . . . . . 0.0097 . intronic . 0.0057891 . . . . . . . . 0.0092 Name\x3d98.003371 1 +10 18787308 CACNB2 C T 1 0.000199681 . 8.208 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.88e-05 D . . . D D . . . Name\x3d99.512539 9 +10 18787448 CACNB2 C G 1 0.0792732 0.0030 . . . . . . . 0.0029 . intronic . 0.0226905 . . . . . . . . 0.0030 Name\x3d96.867050 -1 +10 18787485 CACNB2 G A 2 0.000798722 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.017672 1 +10 18789724 CACNB2 T G 79 0.229832 0.3182 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign . . . 0.3254 . intronic . 0.275165 . . . . . . . . 0.3157 Name\x3d97.425850 -1 +10 18789924 CACNB2 C G 1 0.000998403 0.0006 . . . . . . . 0.0003 . intronic . 0.0005175 . . . . . . . . 0.0007 . 0 +10 18795351 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.797939 3 +10 18795447 CACNB2 G C 2 0.00179712 0.0009 2.683 MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.0009508 T . . . B D . . 0.0012 Name\x3d99.033629 1 +10 18795555 CACNB2 G A 1 0.000199681 0.0036 . . . . . . . . . intronic . 0.0005369 . . . . . . . . . Name\x3d96.470435 1 +10 18795596 CACNB2 G A 82 0.503395 0.3746 . . . . . . . . . intronic . 0.0555491 . . . . . . . . . Name\x3d95.458555 1 +10 18803338 CACNB2 A G 4 0.014377 0.0777 . . . . . . . 0.0725 . intronic . 0.0491391 . . . . . . . . 0.0767 Name\x3d99.402466 -1 +10 18804094 CACNB2 T C 86 0.409545 0.3633 . . . . . . . . . intronic . 0.0725023 . . . . . . . . . Name\x3d99.013621 1 +10 18807246 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.772116 3 +10 18816565 CACNB2 G A 1 0.00359425 0.0113 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0110 synonymous_SNV exonic . 0.0074773 . . . . . . . . 0.0124 Name\x3d99.182161 -1 +10 18816633 CACNB2 C T 27 0.239417 0.1794 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.1575 . intronic . 0.206647 . . . . . . . 0.002 0.1603 Name\x3d98.079948 -1 +10 18822993 CACNB2 C T 1 0.000199681 0.0002 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.0001552 . . . . . . . . 0.0005 Name\x3d98.771182 1 +10 18825201 CACNB2 T G 4 0.0103834 . . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . -2 +10 18825202 CACNB2 TGG GGG,T 4 0.607827 0.2460 . . . . . . . . . intronic . 0.0389196 . . . . . . . . . . -2 +10 18825203 CACNB2 G T 12 0.0642971 0.0119 . . . . . . . . . intronic . 0.0488704 . . . . . . . . . . -2 +10 18825204 CACNB2 G T 12 0.0642971 . . . . . . . . . . intronic . 0.0489089 . . . . . . . . . . -2 +10 18827336 CACNB2 T C 1 0.000199681 6.492e-05 . . . . . . . 1.872e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +10 18828191 CACNB2 C T 2 0.00279553 0.0083 2.546 MedGen:C2678477,OMIM:611876|MedGen:CN230736 Brugada_syndrome_4|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0058 synonymous_SNV exonic . 0.0047994 . . . . . . . . 0.0083 Name\x3d98.895652 1 +10 18828230 CACNB2 T C 2 0.000998403 0.0016 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0010737 . . . . . . . . 0.0024 Name\x3d99.006497 1 +10 18828371 CACNB2 C T 26 0.23722 0.1791 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1573 synonymous_SNV exonic . 0.207184 . . . . . . . . 0.1615 Name\x3d98.755494 -1 +10 18828455 CACNB2 C T 1 0.00778754 0.0001 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.002445 . . . . . . . . 0.0002 Name\x3d99.214967 1 +10 18828486 CACNB2 C G 1 0.00439297 0.0162 4.555 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0144 nonsynonymous_SNV exonic . 0.0099028 D . . . B D . . 0.0170 Name\x3d99.178975 2 +10 18828561 CACNB2 A G 1 0.000199681 . 3.389 MedGen:CN169374 not_specified Uncertain_significance . . . 1.848e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.355753 6 +10 18828635 CACNB2 T G 53 0.0970447 0.1784 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1832 nonsynonymous_SNV exonic . 0.136467 T . . . B D . . 0.1729 Name\x3d99.331345 -1 +10 18828645 CACNB2 C T 1 0.000998403 . 6.542 MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Likely_benign . . . 3.749e-05 nonsynonymous_SNV exonic . 0.0002911 D . . . P D . . . Name\x3d99.267915 4 +10 18828663 CACNB2 G T 173 0.774361 0.7944 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign . . . 0.7884 . UTR3 . 0.706356 . . . . . . . . . Name\x3d96.448897 0 +10 18828670 CACNB2 T C 47 0.0756789 0.1966 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 0.2703 . UTR3 . 0.0003816 . . . . . . . . . Name\x3d96.448897 -1 +10 21074724 NEBL T C 12 0.0666933 0.0777 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0738 synonymous_SNV exonic . 0.076836 . . . . . . . . 0.0762 Name\x3d98.000609 1 +10 21076080 NEBL A C 1 0.000199681 . . . . . . . . 6.936e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 +10 21076100 NEBL C A 12 0.221845 0.0173 . . . . . . . 0.0314 . intronic . 0.0824698 . . . . . . . . 0.0238 . 0 +10 21076285 NEBL C G 22 0.0251597 0.0662 . . . . . . . 0.0774 . intronic . 0.0441197 . . . . . . . . 0.0705 . 0 +10 21076307 NEBL C T 64 0.299521 0.3433 . . . . . . . . . intronic . 0.0658012 . . . . . . . . . . 0 +10 21097556 NEBL G A 1 0.000199681 6.48e-05 14.964 MedGen:CN169374 not_specified Uncertain_significance . . . 1.842e-05 stopgain exonic . 2.59e-05 . . . . . . . . 0.0001 Name\x3d97.303046 13 +10 21098878 NEBL G A 17 0.0834665 0.0015 . . . . . . . 0.0167 . intronic . 0.0027425 . . . . . . . . . . 0 +10 21098879 NEBL G A 43 0.226637 . . . . . . . . . . intronic . 0.0073867 . . . . . . . . . . 0 +10 21101734 NEBL T C 2 0.00139776 0.0022 -0.155 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.001119 T . . . B T . . 0.0019 Name\x3d97.894752 4.5 +10 21104492 NEBL C T 2 0.000798722 0.0005 . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 2 +10 21104694 NEBL A T 90 0.558906 0.3636 . . . . . . . 0.3820 . intronic . 0.432724 . . . . . . . . 0.3794 . 0 +10 21108377 NEBL C T 57 0.183706 0.3082 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2985 synonymous_SNV exonic . 0.237397 . . . . . . . . 0.2952 Name\x3d96.290753 1 +10 21112068 NEBL G T 1 0.00159744 0.0055 . . . . . . . . . intronic . 0.0006727 . . . . . . . . . . 2 +10 21112111 NEBL A T 55 0.302117 0.2739 . . . . . . . 0.3138 . intronic . 0.0008085 . . . . . . . . 0.2187 . 0 +10 21112137 NEBL A T 11 0.124601 0.0183 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0235 nonsynonymous_SNV exonic . 0.0565517 T . . . B T 0.6236 . 0.0224 . 2 +10 21112258 NEBL A C 1 0.00459265 6.483e-05 . . . . . . . 4.066e-05 . intronic . 0.0007697 . . . . . . . . . . 2 +10 21115332 NEBL T C 91 0.558307 0.3660 . . . . . . . 0.3832 . intronic . 0.437006 . . . . . . . . 0.3815 . 0 +10 21115347 NEBL A G 4 0.00559105 0.0095 . . . . . . . 0.0130 . intronic . 0.0096635 . . . . . . . . 0.0131 . 0 +10 21115491 NEBL G T 1 0.000199681 0.0001 . . . . . . . 1.86e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 +10 21117573 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +10 21120116 NEBL A G 74 0.46905 0.3386 . MedGen:CN169374 not_specified Benign . . . 0.3456 . intronic . 0.379342 . . Name\x3dOREG1485482|N/A|EGR1|PAZAR . . . . . 0.3458 . 1 +10 21129588 NEBL T C 19 0.0449281 0.0742 . . . . . . . . . intronic . 0.0135833 . . . . . . . . . . 0 +10 21134282 NEBL C G 19 0.0385383 0.0742 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000273|hsa-miR-216a-5p|Experimental 0.0824 nonsynonymous_SNV exonic . 0.0651544 T . . . P D . . 0.0828 Name\x3d96.362963 5 +10 21139389 NEBL T C 19 0.038738 0.0741 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0826 nonsynonymous_SNV exonic . 0.0653226 T . . . B T . . 0.0834 Name\x3d97.175997 2.5 +10 21141398 NEBL G A 5 0.0119808 0.0428 . . . . . . . . . intronic . 0.0073414 . . . . . . . . . . 0 +10 21141429 NEBL G A 1 0.000199681 0.0007 . . . . . . . 0.0012 . intronic . 0.0007374 . . . . . . . . 0.0014 . 2 +10 21141440 NEBL AG A 53 0.252796 0.2585 . . . . . . . 0.2538 . intronic . 0.210573 . . . . . . . . 0.2555 . 0 +10 21141469 NEBL T C 214 0.952476 0.9997 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.9994 . intronic . 0.927161 . . . . . . 0.0008 0.036 0.9994 . 0 +10 21147144 NEBL G A 2 0.0543131 0.0063 . . . . . . . 0.0077 . intronic . 0.0286413 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . 0.0052 . 1 +10 21148584 NEBL C A 141 0.502995 0.6575 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . . . 1 +10 21157673 NEBL C T 1 0.00139776 0.0022 2.566 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0020828 T . . . B T . . 0.0022 Name\x3d97.084069 4.5 +10 21157763 NEBL CAA CA,C 1 0.102835 0.0097 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 +10 21157774 NEBL AAAAT A 1 0.0517173 0.0014 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +10 21158728 NEBL C T 1 0.000399361 0.0002 1.228 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . B T . . 0.0001 Name\x3d95.313243 6.5 +10 21176945 NEBL G A 196 0.886981 0.9243 . . . . Name\x3dENSR00000942099|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . . 1 +10 21177128 NEBL G C 1 0.000599042 0.0026 9.147 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000942099|Enhancer . . 0.0020 stopgain exonic . 0.0013066 . . . . . . . . 0.0017 Name\x3d97.406572 12 +10 21177143 NEBL GA GAA,G 1 0.0111821 0.0008 . . . . . . . 0.0008 . intronic . 0.000207 . . . . . . . . . . 0 +10 21177156 NEBL GA G 141 0.540535 0.6548 . . . . . . . 0.6557 . intronic . 0.0027361 . . . . . . . . 0.6444 . 0 +10 21178948 NEBL A T 1 0.0181709 0.0002 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +10 21185821 NEBL A C 214 0.923522 0.9957 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +10 21185931 NEBL A G 1 0.00119808 0.0015 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0014 synonymous_SNV exonic . 0.0017788 . . . . . . . . 0.0008 Name\x3d97.387050 3 +10 21185974 NEBL G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +10 21250698 NEBL T C 1 0.000199681 . 2.461 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.241792 6.5 +10 21309211 NEBL C T 5 0.00539137 0.0163 . . . . . . . . . intronic . 0.002542 . . . . . . . . . . 0 +10 21461232 NEBL G A 30 0.230232 0.1573 . . . . . . . . . intronic . 0.0331173 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 1 +10 21461237 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 5 +10 21461410 NEBL G GA 53 0.353634 0.2050 . MedGen:CN169374 not_specified not_provided Name\x3dENSR00000025357|Promoter . . 0.2169 . intronic . 0.0003687 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.993913 3 +10 21462769 NEBL G A 3 0.0163738 0.0036 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025357|Promoter . . 0.0043 . UTR5 . 0.0074902 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.265883 3 +10 21462878 NEBL G A 3 0.0163738 0.0035 . . . . Name\x3dENSR00000025357|Promoter . . . . UTR5 . 0.0009961 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . . . 2 +10 67726514 CTNNA3 A C 56 0.352636 0.3131 . MedGen:CN169374 not_specified Benign . . . 0.3021 . intronic . 0.334142 . . . . . . 0.0057 0.262 0.3110 . -2 +10 67748412 CTNNA3 G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.768403 3 +10 68040240 CTNNA3 G T 4 0.0690895 0.0164 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign . . . 0.0210 synonymous_SNV exonic . 0.0360862 . . . . . . . . 0.0205 Name\x3d99.558760 -1 +10 68040325 CTNNA3 C T 80 0.485024 0.3875 0.202 . . . . . . 0.3745 nonsynonymous_SNV exonic . 0.404141 T . . . B T . . 0.3621 Name\x3d99.280767 0.5 +10 68139038 CTNNA3 C T 1 0.000199681 0.0001 3.955 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance Name\x3dENSR00000945668|Enhancer . . 0.0002 nonsynonymous_SNV exonic . 0.00011 T . . . D T . . 0.0002 Name\x3d99.468039 4 +10 68139039 CTNNA3 G A 1 0.00499201 0.0135 4.125 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign Name\x3dENSR00000945668|Enhancer . . 0.0165 nonsynonymous_SNV exonic . 0.0114552 T . . . D T . . 0.0151 Name\x3d99.468039 0 +10 68139142 CTNNA3 G A 39 0.0940495 0.1746 . . . . Name\x3dENSR00000945668|Enhancer . . 0.1771 . intronic . 0.15254 . . . . . . . . 0.1845 . -1 +10 68381592 CTNNA3 T C 3 0.00239617 0.0038 . . . . . . . 0.0042 . intronic . 0.0026002 . . . . . . . . 0.0042 . 4 +10 68381615 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +10 68535233 CTNNA3 A G 1 0.000199681 . 2.979 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.731773 6 +10 68979342 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 2 +10 68979343 CTNNA3 C G 14 0.187899 0.1162 . . . . . . . 0.1136 . intronic . 0.12496 . . . . . . . . 0.1072 . -2 +10 68979636 CTNNA3 G A 1 0.000798722 0.0023 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0024 . intronic . 0.0015071 . . . . . . . . 0.0020 Name\x3d96.575495 1 +10 69281585 CTNNA3 A C 18 0.187101 0.1358 . . . . . . . 0.1131 . intronic . 0.156149 . . . . . . . . 0.1113 Name\x3d98.330022 -1 +10 69281701 CTNNA3 A T 7 0.0113818 0.0262 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0220114 T . . . D T . . 0.0253 Name\x3d99.260389 -1 +10 69281732 CTNNA3 A G 15 0.0593051 0.0525 . MedGen:CN169374 not_specified Benign . . . 0.0530 . intronic . 0.000304 . . . . . . . . 0.0592 Name\x3d98.891749 -1 +10 69299192 CTNNA3 C T 5 0.0179712 0.0640 . . . . . . . . . intronic . 0.0082017 . . . . . . . . . . -2 +10 69299372 CTNNA3 T G 4 0.0147764 0.0170 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0178 synonymous_SNV exonic . 0.0173154 . . . . . . . . 0.0226 Name\x3d99.183406 -1 +10 69299446 CTNNA3 T A 24 0.195487 0.0957 . MedGen:CN169374 not_specified Benign . . . 0.1056 . intronic . 0.128957 . . . . . . . . 0.1024 Name\x3d96.936138 -1 +10 69366602 CTNNA3 T C 58 0.529952 0.2882 . MedGen:CN169374 not_specified Benign . . . 0.2907 . intronic . 0.367052 . . . . . . . . 0.2893 Name\x3d98.839083 -1 +10 69407239 CTNNA3 G A 1 0.000399361 0.0018 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0029 synonymous_SNV exonic . 0.0018434 . . . . . . . . 0.0035 Name\x3d99.248734 1 +10 69407254 CTNNA3 T A 1 0.000199681 6.482e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0001552 . . . . . . . . 0.0002 Name\x3d99.482270 3 +10 69882040 MYPN A G 1 0.000199681 0.0002 5.735 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0001488 D . . . D D . . 0.0002 Name\x3d99.776413 11 +10 69902919 MYPN T C 4 0.114217 0.0469 . . . . Name\x3dENSR00000945768|Enhancer . . 0.0458 . intronic . 0.0002652 . . . . . . . . 0.0477 Name\x3d95.540898 2 +10 69905300 MYPN G A 28 0.295927 0.0749 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0777 . intronic . 0.150645 . . . . . . . . 0.0807 Name\x3d98.096456 1 +10 69905411 MYPN T C 1 0.000599042 0.0003 . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . . 2 +10 69908063 MYPN A T 6 0.0577077 0.0168 . . . . . . . 0.0148 . intronic . 0.0247862 . . . . . . . . 0.0126 . 0 +10 69908157 MYPN T C 6 0.120607 0.0176 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0149 nonsynonymous_SNV exonic . 0.043861 T . . . B T . . 0.0147 Name\x3d99.271525 2.5 +10 69908241 MYPN G A 22 0.121605 0.0560 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0616 . intronic . 0.0893714 . . Name\x3dOREG1522046|N/A|ESR1|PAZAR . . . . . 0.0643 . 1 +10 69909756 MYPN T C 4 0.0946486 0.0327 . . . . . . . 0.0313 . intronic . 0.0528518 . . . . . . . . 0.0344 Name\x3d95.779753 1 +10 69909802 MYPN G A 14 0.0842652 0.0792 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0888 synonymous_SNV exonic . 0.0840093 . . . . . . . . 0.0826 Name\x3d99.405156 1 +10 69909844 MYPN C A 1 0.00199681 0.0006 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0008085 . . . . . . . . 0.0008 Name\x3d99.385616 3 +10 69909899 MYPN G A 15 0.14996 0.0799 . . . . . . . 0.0902 . intronic . 0.100943 . . . . . . . . 0.0826 Name\x3d98.669119 1 +10 69918442 MYPN CACTT C 4 0.0379393 0.0167 . . . . . . . . . intronic . 0.003381 . . . . . . . . . Name\x3d96.509998 1 +10 69925596 MYPN G C 1 0.00199681 0.0115 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign . . . 0.0121 . intronic . 0.0074773 . . . . . . . . 0.0095 Name\x3d97.725426 1 +10 69926097 MYPN T C 140 0.482628 0.7086 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.6848 synonymous_SNV exonic . 0.621331 . . . . . . . . 0.6960 Name\x3d99.444903 1 +10 69926319 MYPN C A 49 0.116613 0.1619 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1672 synonymous_SNV exonic . 0.155037 . . . . . . . . 0.1735 Name\x3d98.867298 1 +10 69926325 MYPN C T 53 0.157748 0.1787 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1813 synonymous_SNV exonic . 0.176531 . . . . . . . . 0.1866 Name\x3d99.063706 1 +10 69926334 MYPN C G 87 0.316494 0.5293 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5025 nonsynonymous_SNV exonic . 0.435596 T . . . B T . . 0.5095 Name\x3d99.204429 2.5 +10 69933921 MYPN G A 85 0.335863 0.4997 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4796 nonsynonymous_SNV exonic . 0.431191 T . . . B T . . 0.48 Name\x3d99.388223 2.5 +10 69933969 MYPN G A 85 0.32508 0.4990 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4790 nonsynonymous_SNV exonic . 0.422659 T . . . B T . . 0.4798 Name\x3d99.151452 2.5 +10 69934012 MYPN C A 4 0.0429313 0.0163 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0140 synonymous_SNV exonic . 0.0226258 . . . . . . . . 0.0123 Name\x3d99.701038 1 +10 69934258 MYPN C G 108 0.471446 0.5668 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5518 nonsynonymous_SNV exonic . 0.512788 T . . . P D . . 0.5509 Name\x3d99.421069 1 +10 69934259 MYPN G A 4 0.0103834 0.0247 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.0191589 T . . . P D . . 0.035 Name\x3d99.421069 1 +10 69934467 MYPN A G 164 0.817093 0.8178 . . . . . . . . . intronic . 0.157818 . . . . . . . . . . 0 +10 69935059 MYPN A G 139 0.547524 0.7210 . . . . . . . 0.7117 . intronic . 0.641706 . . . . . . . . 0.7103 Name\x3d98.698597 1 +10 69935062 MYPN T G 1 0.00519169 . . . . . . . . 0.0015 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.128106 3 +10 69935235 MYPN T C 214 0.982428 0.9997 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.9996 . intronic . 0.951864 . . . . . . . . 0.9990 Name\x3d97.211278 1 +10 69948844 MYPN T C 214 0.984625 0.9998 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.9997 synonymous_SNV exonic . 0.948526 . . . . . . . . 0.9994 Name\x3d99.672016 1 +10 69948892 MYPN G C 2 0.0141773 0.0019 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0025 . intronic . 0.0055497 . . . . . . . . 0.0019 Name\x3d97.871692 1 +10 69954090 MYPN A G 4 0.00678914 0.0230 . . . . . . . 0.0208 . intronic . 0.0162546 . . . . . . . . 0.0199 . 0 +10 69954290 MYPN G A 85 0.35603 0.4992 . . . . . . . 0.4839 . intronic . 0.431812 . . . . . . . . 0.4774 Name\x3d98.979848 1 +10 69954301 MYPN C T 42 0.117812 0.1527 . . . . . . . 0.1608 . intronic . 0.144739 . . . . . . . . 0.1633 Name\x3d99.137292 3 +10 69955140 MYPN T A 131 0.48143 0.6754 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 +10 69957279 MYPN T G 1 0.000599042 6.579e-05 . . . . . . . 0.0001 . intronic . 9.06e-05 . . Name\x3dOREG1412240|N/A|E2F1|PAZAR . . . . . 0.0002 Name\x3d96.261007 4 +10 69959097 MYPN G T 145 0.538139 0.7553 . . . . . . . 0.7452 . intronic . 0.663543 . . . . . . . . 0.7473 Name\x3d99.134722 1 +10 69959174 MYPN C T 2 0.00259585 0.0021 5.849 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:C3714998|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0033 nonsynonymous_SNV exonic . 0.002846 T . . . D T . . 0.0024 Name\x3d99.608949 6 +10 69959242 MYPN C A 85 0.340256 0.5001 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4803 nonsynonymous_SNV exonic . 0.432582 T . . . D D . . 0.4786 Name\x3d99.605475 4 +10 69959281 MYPN G C 1 0.000199681 . 6.922 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.635210 11 +10 69959345 MYPN GCTGGGA G 85 0.358227 0.4937 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.4697 . intronic . 0.012613 . . . . . . . . 0.4553 Name\x3d98.130942,98.994558 1 +10 69959397 MYPN G A 85 0.358227 0.5003 . . . . . . . . . intronic . 0.0865966 . . . . . . . . . Name\x3d96.735011 1 +10 69961805 MYPN G A 3 0.00678914 0.0138 . . . . . . . . . intronic . 0.0127939 . . Name\x3dOREG0549335|N/A|CEBPB|JASPAR . . . . . . . 1 +10 69966602 MYPN G A 2 0.000399361 0.0001 . . . . . . . 3.681e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.610949 5 +10 69969986 MYPN C T 77 0.285743 0.3130 . . . . . . . . . intronic . 0.0597146 . . . . . . . . . . 0 +10 69969987 MYPN G A 2 0.00898562 0.0019 . . . . . . . . . intronic . 0.0006015 . . . . . . . . . . 2 +10 75834538 VCL C T 1 0.000599042 0.0014 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0004515|hsa-miR-29b-2-5p|Experimental 0.0012 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0010 Name\x3d99.114408 4 +10 75842152 VCL G A 71 0.511182 0.3762 . . . . . . . . . intronic . 0.080704 . . . . . . . . . Name\x3d98.537528 1 +10 75843100 VCL T A 108 0.780751 0.5464 . MedGen:CN169374 not_specified Benign . . . 0.5349 . intronic . 0.628439 . . . . . . . . 0.5227 Name\x3d99.094034 1 +10 75849921 VCL T C 1 0.00199681 0.0047 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign . . . 0.0059 synonymous_SNV exonic . 0.0044825 . . . . . . . . 0.0056 Name\x3d99.392980 3 +10 75849991 VCL C A 1 0.0249601 0.0034 . . . . . . . 0.0045 . intronic . 0.0093078 . . . . . . . . 0.0035 . 0 +10 75855541 VCL C T 1 0.00319489 0.0023 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0029 synonymous_SNV exonic . 0.0044178 . . . . . . . . 0.0015 Name\x3d99.561477 3 +10 75863750 VCL C T 167 0.500998 0.7184 . . . . . . . . . intronic . 0.126143 . . . . . . . . . Name\x3d98.852024 1 +10 75865065 VCL G A 132 0.324681 0.5805 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . Name\x3dMIMAT0004559|hsa-miR-181c-3p|Experimental,MIMAT0000761|hsa-miR-324-5p|Experimental 0.5837 synonymous_SNV exonic . 0.479573 . . . . . . . . 0.5895 Name\x3d99.805936 2 +10 75865095 VCL A G 7 0.0365415 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . . synonymous_SNV exonic . 0.0011837 . . . . . . . . . Name\x3d99.809405 1 +10 75865159 VCL C T 16 0.0157748 0.0545 . . . . . . . 0.0566 . intronic . 0.0391974 . . . . . . . . 0.0610 Name\x3d98.066364 1 +10 75866929 VCL C A 133 0.400958 0.5858 . . . . . . . . . intronic . 0.0208237 . . Name\x3dOREG1182812|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.346867 3 +10 75871735 VCL C G 170 0.623003 0.7456 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7401 synonymous_SNV exonic . 0.656072 . . . . . . . . 0.7521 Name\x3d99.730915 1 +10 75873892 VCL C T 133 0.400958 0.5865 . . . . Name\x3dENSR00000946465|Enhancer . . 0.5897 . intronic . 0.495847 . . . . . . . . 0.5953 Name\x3d98.535256 3 +10 75873920 VCL C G 1 0.00279553 0.0108 . . . . Name\x3dENSR00000946465|Enhancer . . 0.0107 . intronic . 0.0073479 . . . . . . . . 0.0124 Name\x3d99.493086 2 +10 75874190 VCL T C 2 0.0125799 0.0041 . . . . . . . 0.0036 . intronic . 0.0008991 . . . . . . . . . . 0 +10 75874192 VCL T C 126 0.382788 0.5380 . . . . . . . 0.4783 . intronic . 0.0001294 . . . . . . . . . Name\x3d96.454468 1 +10 75874667 VCL A T 1 0.000998403 0.0043 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0057 . intronic . 0.0022574 . . . . . . . . 0.0038 Name\x3d97.871381 3 +10 88439094 LDB3 G A 1 0.000798722 0.0038 . . . . . . . 0.0023 . intronic . 0.0017141 . . Name\x3dOREG1768642|N/A|MITF|PAZAR,OREG1861631|N/A|SPI1|PAZAR . . . . . 0.0028 Name\x3d99.456162 4 +10 88439175 LDB3 G C 1 0.000199681 6.485e-05 5.907 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 T . Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR . D D . . . Name\x3d99.816619 9 +10 88439866 LDB3 G A 1 0.00439297 6.487e-05 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.522e-05 synonymous_SNV exonic . 0.0024644 . . . . . . . . 0.0002 Name\x3d99.713696 3 +10 88440018 LDB3 G A 9 0.0726837 0.0365 . . . . . . . . . intronic . 0.0571692 . . . . . . . . . . 0 +10 88441223 LDB3 G A 2 0.00159744 0.0067 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0073 nonsynonymous_SNV exonic . 0.0046248 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0070 Name\x3d99.840456 5.5 +10 88441269 LDB3 C T 1 0.000199681 . -1.218 MedGen:CN169374 not_specified Likely_benign . . . 7.588e-05 nonsynonymous_SNV exonic . 3.88e-05 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0001 Name\x3d99.519844 7.5 +10 88441437 LDB3 C T 2 0.000599042 0.0005 1.083 MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005886 T . . . B T . . 0.0002 Name\x3d99.723768 4.5 +10 88441527 LDB3 G A 1 0.000199681 . 4.708 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374 Myofibrillar_myopathy,_ZASP-related|not_specified Uncertain_significance . . . 7.583e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.898982 5 +10 88445385 LDB3 G C 150 0.624201 0.7450 . MedGen:CN169374 not_specified Benign . . . 0.7435 . intronic . 0.0040297 . . . . . . . . 0.7528 Name\x3d98.723784 1 +10 88446811 LDB3 G A 9 0.0613019 0.0408 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign . . . 0.0357 . intronic . 0.0407369 . . . . . . . . 0.0396 Name\x3d99.516757 1 +10 88446830 LDB3 G A 2 0.00778754 0.0031 3.591 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0042 nonsynonymous_SNV exonic . 0.0042173 T . . . B D . . 0.0040 Name\x3d99.869135 3 +10 88446985 LDB3 T C 9 0.0567093 0.0410 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign . . . 0.0355 synonymous_SNV exonic . 0.0406657 . . . . . . . . 0.0407 Name\x3d99.899103 2 +10 88447076 LDB3 A T 2 0.00479233 0.0025 . . . . . . . 0.0022 . intronic . 0.0021863 . . . . . . . . 0.0035 Name\x3d98.306648 3 +10 88447082 LDB3 A C 9 0.0439297 0.0407 . . . . . . . . . intronic . 0.0073026 . . . . . . . . . Name\x3d98.534907 2 +10 88451649 LDB3 A G 2 0.0061901 0.0025 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0022 . intronic . 0.0026002 . . . . . . 0.0001 . 0.0038 Name\x3d99.150170 3 +10 88451715 LDB3 A G 1 0.0171725 0.0012 3.610 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0063195 T . . . D T . . 0.0010 Name\x3d99.835354 1 +10 88451869 LDB3 G C 34 0.241214 0.1274 . MedGen:CN169374 not_specified Benign . . . 0.1311 . intronic . 0.174124 . . . . . . . . 0.1154 Name\x3d98.097764 1 +10 88452190 LDB3 G A 1 0.000998403 0.0032 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 +10 88452258 LDB3 G A 6 0.00259585 0.0027 . . . . . . . 0.0061 . intronic . 0.0036934 . . . . . . . . 0.0038 Name\x3d98.713266 11 +10 88458996 LDB3 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 0.0501198 0.0006 . . . . . . . 0.0284 . intronic . 0.000194 . . . . . . . . . Name\x3d99.611455,99.696200 1 +10 88459000 LDB3 C G 2 0.0301518 . . . . . . . . . . intronic . 0.0013907 . . . . . . . . . Name\x3d99.696200 1 +10 88459002 LDB3 C T 2 0.0301518 . . . . . . . . 0.0002 . intronic . 0.0013777 . . . . . . . . . Name\x3d99.611455 1 +10 88459050 LDB3 G A 1 0.000798722 0.0005 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0008279 . . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . . . . . 0.0001 Name\x3d99.910619 4 +10 88459055 LDB3 G A 1 0.000199681 . 2.444 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . B T . . . Name\x3d99.933432 7.5 +10 88459066 LDB3 C T 1 0.000199681 6.494e-05 2.712 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_provided Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . D D . . 0.0001 Name\x3d99.888298 9 +10 88466465 LDB3 C T 12 0.0201677 0.0485 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0498 synonymous_SNV exonic . 0.0339388 . . . . . . . . 0.0369 Name\x3d99.132953 1 +10 88469831 LDB3 G A 2 0.00698882 0.0127 . . . . . . . 0.0079 . intronic . 0.0064747 . . . . . . . . 0.0072 Name\x3d99.207180 1 +10 88469837 LDB3 C G 6 0.0385383 0.0399 . MedGen:CN169374 not_specified Likely_benign . . . 0.0355 . intronic . 0.0324575 . . . . . . . . 0.0357 Name\x3d99.207180 1 +10 88476105 LDB3 C G 1 0.000199681 0.0001 4.244 MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001035 T . . . D T . . 0.0001 Name\x3d99.752876 5 +10 88477932 LDB3 CAT C 1 0.00798722 . . . . . . . . 0.0004 . intronic . 0.0024321 . . . . . . . . 0.0004 . 2 +10 88485858 LDB3 C T 2 0.00439297 0.0017 . . . . . . . 0.0018 . intronic . 0.002044 . . . . . . . . 0.0027 . 2 +10 92672564 ANKRD1 T C 92 0.354233 0.4788 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.0868359 . . . . . . . . . . 0 +10 92675649 ANKRD1 GA G 39 0.178714 0.1706 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1653 . intronic . 0.0044243 . . . . . . . . 0.1575 . 0 +10 92675857 ANKRD1 G A 16 0.0621006 0.0270 . . . . . . . . . intronic . 0.005194 . . . . . . . . . . 0 +10 92678728 ANKRD1 G A 1 0.000798722 0.0003 3.758 MedGen:CN119551|MedGen:CN169374|MedGen:CN230736 ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Uncertain_significance Name\x3dENSR00000411683|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T 0.9791 0.746 0.0001 Name\x3d97.883274 6.5 +10 92678744 ANKRD1 A T 170 0.810104 0.0083 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000411683|Promoter . . 0.0111 . intronic . 0.0436799 . . . . . . . . . . 1 +10 92678747 ANKRD1 A G 92 0.357827 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0116881 . . . . . . . . . . 1 +10 92678748 ANKRD1 A T 169 0.784545 0.0602 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000411683|Promoter . . 0.0446 . intronic . 0.0038874 . . . . . . . . . . 1 +10 92678761 ANKRD1 A C 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 +10 92678762 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0002587 . . . . . . . . . . 7 +10 92678764 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 +10 92678765 ANKRD1 A G 112 0.441094 0.5533 . . . . Name\x3dENSR00000411683|Promoter . . 0.6760 . intronic . 0.428274 . . . . . . . . . . 1 +10 92678789 ANKRD1 T C 5 0.00319489 0.0085 . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0014036 . . . . . . . . . . 11 +10 92680886 ANKRD1 G A 1 0.000998403 0.0002 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000411683|Promoter . . . . UTR5 . 0.0001921 . . Name\x3dOREG1645377|N/A|FOXA1|PAZAR,OREG1180501|N/A|TFAP2C|PAZAR,OREG1586947|N/A|FOXA1|PAZAR,OREG1670379|N/A|GATA2|PAZAR,OREG1891617|N/A|STAT1|PAZAR . . . . . . Name\x3d97.369042 5 +10 101473218 COX15 A G 188 0.827077 0.8812 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374|MedGen:CN517202 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified|not_provided Benign . . . 0.8731 nonsynonymous_SNV exonic . 0.843488 T . . . B T . . 0.8733 . -0.5 +10 101474499 COX15 T C 50 0.233427 0.3223 . . . . . . . 0.2825 . intronic . 0.256614 . . . . . . . . 0.2957 . -1 +10 101487354 COX15 G T 1 0.000599042 0.0022 . . . . . . . 0.0026 . intronic . 0.0015459 . . . . . . . . 0.0033 . 0 +10 112404302 RBM20 G A 32 0.222244 0.1405 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000033358|Promoter . . 0.1268 synonymous_SNV exonic . 0.0450188 . . . . . . . . . Name\x3d99.728733 2 +10 112541062 RBM20 G A 1 0.0271565 0.0006 5.048 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.002542 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . D D . . 0.0016 Name\x3d99.772611 5 +10 112541073 RBM20 T C 1 0.000199681 . -0.375 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR,OREG1528648|N/A|ESR1|PAZAR . B T . . . Name\x3d99.808133 7.5 +10 112541335 RBM20 A G 1 0.000199681 . -0.710 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . B T . . . Name\x3d99.868653 7.5 +10 112541676 RBM20 T C 52 0.132987 0.2941 . . . . . . . 0.2642 . intronic . 0.0663575 . . . . . . . . 0.2788 Name\x3d97.503030 1 +10 112541678 RBM20 G A 52 0.132987 0.2937 . . . . . . . 0.2641 . intronic . 0.0656719 . . . . . . . . . Name\x3d97.503030 1 +10 112543217 RBM20 G A 153 0.788139 0.8054 . . . . . . . 0.7941 . intronic . 0.263664 . . . . . . . . 0.7879 . 0 +10 112544042 RBM20 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +10 112544063 RBM20 A C 109 0.633986 0.5766 . . . . . . . 0.5832 . intronic . 0.189073 . . . . . . . . 0.5698 . 0 +10 112544244 RBM20 G A 2 0.00778754 0.0035 . . . . . . . . . intronic . 0.0062241 . . . . . . . . 0.0066 Name\x3d95.775845 3 +10 112544505 RBM20 G T 4 0.00139776 0.0033 . . . . . . . 0.0132 . intronic . 0.0009896 . . . . . . . . . . 0 +10 112544655 RBM20 C T 41 0.164137 0.2280 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2057 . intronic . 0.0562541 . . . . . . . . 0.2200 Name\x3d98.560524 1 +10 112559490 RBM20 C A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +10 112559652 RBM20 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.842735 5 +10 112570130 RBM20 G C 5 0.0365415 0.0222 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0268 . intronic . 0.0121538 . . . . . . . 0.024 0.0245 Name\x3d99.309749 1 +10 112570147 RBM20 G A 1 0.000199681 0.0002 7.468 MedGen:C2750995,OMIM:613172|MedGen:CN230736 Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.751411 11 +10 112570243 RBM20 T C 91 0.316494 0.3712 . . . . Name\x3dENSR00000949941|Enhancer . . 0.3967 . intronic . 0.11276 . . . . . . . . 0.3755 Name\x3d98.073799 2 +10 112572147 RBM20 C T 1 0.000998403 0.0020 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0038 synonymous_SNV exonic . 0.0004722 . . . . . . . . . Name\x3d99.872771 3 +10 112572458 RBM20 G C 214 0.991014 0.9997 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000415671|Enhancer . . 0.9998 nonsynonymous_SNV exonic . 0.31257 . . Name\x3dOREG1416621|N/A|E2F1|PAZAR . . . . . 0.9994 Name\x3d99.800262 4.5 +10 112579791 RBM20 C T 1 0.000798722 0.0003 . . . . . . . 0.0011 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.602422 3 +10 112583178 RBM20 ATGTTGTATTTCTT A 1 0.00359425 . . . . . . . . . . intronic . 0.0001164 . . Name\x3dOREG1193056|N/A|TFAP2C|PAZAR,OREG1601177|N/A|FOXA1|PAZAR,OREG1659450|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.877816,96.419048 4 +10 112583294 RBM20 G A 3 0.00199681 0.0043 3.854 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0111 nonsynonymous_SNV exonic . 0.0010349 T . Name\x3dOREG1659450|N/A|FOXA1|PAZAR,OREG1601177|N/A|FOXA1|PAZAR . P D . . 0.0053 Name\x3d99.715618 2 +10 112590778 RBM20 G C 1 0.0407348 0.0005 . . . . . . . 0.0005 . intronic . 0.0041073 . . . . . . . . 0.0013 Name\x3d95.774143 1 +10 112590810 RBM20 G C 214 0.969649 0.9999 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9996 . intronic . 0.305209 . . . . . . . . 0.9994 . 0 +10 112590980 RBM20 C T 1 0.000199681 0.0005 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . . . . 2 +10 112595719 RBM20 G C 172 0.697085 0.8763 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000415679|Promoter . . 0.8684 nonsynonymous_SNV exonic . 0.0048447 T . . . P D . . 0.8724 Name\x3d99.609389 5 +10 121429394 BAG3 G A 7 0.00738818 0.0354 2.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0298 nonsynonymous_SNV exonic . 0.0204525 T . . . B T . . 0.0326 Name\x3d99.819489 2.5 +10 121429412 BAG3 C T 1 0.000199681 0.0003 0.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002587 T . . . B T . . 0.0006 Name\x3d99.281516 4.5 +10 121429633 BAG3 T C 34 0.0964457 0.2060 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.2235 nonsynonymous_SNV exonic rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883 0.174092 T . . . P D . . 0.2073 Name\x3d99.802511 1 +10 121429645 BAG3 G A 2 0.00179712 0.0031 0.668 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0046 nonsynonymous_SNV exonic . 0.0028525 T . . . B T . . . Name\x3d99.637626 4.5 +10 121432040 BAG3 C T 1 0.000199681 . 2.527 MedGen:CN169374 not_specified Likely_benign . . . 1.846e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d99.688381 6.5 +10 121435955 BAG3 A C 164 0.635184 0.7204 . MedGen:CN169374 not_specified Benign . . . 0.7296 . intronic . 0.666641 . . . . . . . . 0.7245 Name\x3d99.108166 1 +10 121436068 BAG3 T G 23 0.155751 0.0951 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.0835 synonymous_SNV exonic . 0.110755 . . . . . . . . 0.0881 Name\x3d99.818653 1 +10 121436100 BAG3 A T 1 0.000199681 . 5.722 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.835314 8 +10 121436286 BAG3 C T 23 0.155551 0.0953 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.0833 nonsynonymous_SNV exonic . 0.112547 T . . . B D . . 0.0877 Name\x3d99.687790 1 +10 121436362 BAG3 A G 176 0.70647 0.7807 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . Name\x3dMIMAT0003888|hsa-miR-766-3p|Experimental 0.7811 synonymous_SNV exonic . 0.740042 . . . . . . . . 0.7792 Name\x3d99.820161 2 +11 533415 HRAS G A 1 0.000399361 0.0009 . . . . . . . 0.0004 . intronic . 0.0002652 . . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0007 Name\x3d99.732043 2 +11 533546 HRAS G A 2 0.000798722 0.0015 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign . . . 0.0014 nonsynonymous_SNV exonic . 0.000925 . . Name\x3dOREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR,OREG1848100|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d99.838963 3.5 +11 533664 HRAS T A 2 0.000399361 0.0001 . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . Name\x3dOREG1511148|N/A|EGR1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR . . . . . . Name\x3d99.071362 4 +11 533821 HRAS G C 1 0.000199681 . 2.510 . . . Name\x3dENSR00000035647|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1848101|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . P T . . . Name\x3d99.776664 6.5 +11 534197 HRAS C T 14 0.0766773 0.0469 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000035647|Promoter . . 0.0396 . intronic . 0.0639125 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0431 Name\x3d98.639245 1 +11 534242 HRAS A G 69 0.297125 0.3524 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|Rasopathy|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.3275 synonymous_SNV exonic . 0.313334 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.3441 Name\x3d99.816824 3 +11 534332 HRAS G A 7 0.0357428 0.0435 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.0578 . UTR5 . 0.0432983 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0462 Name\x3d98.963820 1 +11 2466274 KCNQ1 G C 1 0.000199681 . . . . . Name\x3dENSR00000035945|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1500675|N/A|EGR1|PAZAR . . . . . . Name\x3d99.294939 7 +11 2466501 KCNQ1 C T 1 0.000199681 . 3.646 . . . Name\x3dENSR00000035945|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1500675|N/A|EGR1|PAZAR . P D . . . Name\x3d99.919332 10 +11 2549229 KCNQ1 C T 1 0.000399361 6.486e-05 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443 0.0001811 D . . . B T . . 0.0005 Name\x3d99.933882 3 +11 2549230 KCNQ1 G A 1 0.000399361 0.0018 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.001216 . . . . . . . . 0.0027 Name\x3d99.933882 3 +11 2549257 KCNQ1 C T 1 0.0171725 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0004 . intronic . 0.0060543 . . . . . . . . 0.0003 Name\x3d99.111971 1 +11 2549329 KCNQ1 TGG T 118 0.593251 0.6613 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.602069,95.635312 1 +11 2591802 KCNQ1 T G 1 0.00419329 0.0003 . . . . . . . . . intronic . 0.0016136 . . . . . . . . . Name\x3d97.064096 3 +11 2591893 KCNQ1 C T 1 0.000199681 0.0014 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0011 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0016 Name\x3d99.921392 3 +11 2592033 KCNQ1 G A 1 0.000599042 0.0019 . . . . . . . 0.0018 . intronic . 0.0013777 . . . . . . . . 0.0037 Name\x3d97.707256 3 +11 2593185 KCNQ1 C T 1 0.00658946 0.0282 . . . . . . . . . intronic . 0.0140234 . . . . . . . . . Name\x3d95.914149 1 +11 2593416 KCNQ1 A G 58 0.328874 0.2313 . . . . . . . . . intronic . 0.290303 . . . . . . . . . Name\x3d95.111065 1 +11 2594037 KCNQ1 C T 1 0.000399361 . . . . . . . . 7.526e-05 . intronic . 5.82e-05 . . . . . . . . 0.0001 Name\x3d96.009946 5 +11 2594106 KCNQ1 C T 1 0.000399361 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0004981 . . . . . . . . 0.0002 Name\x3d99.920096 3 +11 2594268 KCNQ1 T G 3 0.00279553 0.0052 . . . . . . . 0.0062 . intronic . 0.0042108 . . . . . . . . 0.0039 . 6 +11 2606519 KCNQ1 G A 1 0.000199681 6.48e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0003 Name\x3d99.942483 5 +11 2606621 KCNQ1 C T 8 0.00678914 0.0116 . . . . . . . . . intronic . 0.001837 . . . . . . . . . Name\x3d96.963998 1 +11 2609919 KCNQ1 A G 1 0.000199681 . . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.532182 5 +11 2683152 KCNQ1OT1 T G 38 0.305112 0.0956 . . . . . . . 0.0938 . ncRNA_exonic . 0.119449 . . . . . . . . 0.0923 Name\x3d97.193237 -1 +11 2683177 KCNQ1OT1 C T 4 0.0129792 0.0136 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0105 . ncRNA_exonic . 0.0113259 . . . . . . . . 0.0138 Name\x3d98.940676 -1 +11 2683329 KCNQ1OT1 C T 2 0.0191693 6.483e-05 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0006 . ncRNA_exonic . 0.008952 . . . . . . . . 0.0002 Name\x3d99.228112 -1 +11 2683357 KCNQ1OT1 A G 88 0.519768 0.4665 . . . . . . . 0.4504 . ncRNA_exonic . 0.441094 . . . . . . . . 0.4637 . -2 +11 2683361 KCNQ1OT1 C G 1 0.00139776 0.0014 . . . . . . . 0.0017 . ncRNA_exonic . 0.0013195 . . . . . . . . 0.0034 . 0 +11 2790019 KCNQ1 G A 8 0.0908546 0.0256 . . . . . . . . . intronic . 0.0080788 . . . . . . . . 0.0305 . 0 +11 2790163 KCNQ1 T C 41 0.0461262 0.1083 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.1177 . intronic . 0.0867712 . . . . . . . . 0.1172 . 0 +11 2797197 KCNQ1 G A 1 0.000199681 . 5.912 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 2.59e-05 D . Name\x3dOREG1500684|N/A|EGR1|PAZAR . P D . . . Name\x3d99.937482 9 +11 2797237 KCNQ1 G A 35 0.180911 0.2038 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.3016 synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.1932 Name\x3d99.936874 2 +11 2797320 KCNQ1 A G 149 0.668331 0.6854 . . . . . . . 0.6895 . intronic . 0.428591 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.6891 Name\x3d96.805043 2 +11 2798305 KCNQ1 T C 54 0.223842 0.2473 . . . . Name\x3dENSR00000952519|Promoter . . 0.2408 . intronic . 0.221019 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.2302 . 2 +11 2798341 KCNQ1 C T 1 0.000199681 . . . . . Name\x3dENSR00000952519|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . . 6 +11 2799211 KCNQ1 A G 1 0.000199681 . 0.782 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.902951 6 +11 2799299 KCNQ1 G T 9 0.0133786 0.0613 . . . . . . . 0.0475 . intronic . 0.0346373 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.0511 Name\x3d97.401843 2 +11 2799369 KCNQ1 C G 7 0.0155751 0.0285 . . . . . . . . . intronic . 0.0214 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.643325 2 +11 2799380 KCNQ1 G A 2 0.000399361 0.0015 . . . . . . . . . intronic . 0.0003074 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.577914 4 +11 2869002 KCNQ1 G A 1 0.000599042 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0002587 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.0009 Name\x3d99.887308 4 +11 2869188 KCNQ1 C T 45 0.0832668 0.2683 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3820 synonymous_SNV exonic . 0.142611 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.2328 Name\x3d99.891667 2 +11 6625566 ILK A G 1 0.000399361 0.0011 2.601 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign Name\x3dENSR00000036315|Promoter . . 0.0035 nonsynonymous_SNV exonic . 0.0013842 T . Name\x3dOREG1247960|N/A|SMARCA4|PAZAR . P T . . 0.0007 Name\x3d98.674504 6.5 +11 6629332 ILK T C 1 0.000199681 . 3.622 MedGen:CN169374 not_specified Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d96.343153 5 +11 6629665 ILK C T 58 0.314696 0.2617 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2626 synonymous_SNV exonic . 0.265527 . . . . . . . . 0.25 . 0 +11 6630028 ILK TC T 214 1 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 1 . intronic . 0.0293981 . . . . . . . . . . 0 +11 6630043 ILK C T 1 0.000199681 . -0.079 . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +11 6630410 ILK T C 51 0.120807 0.2600 . . . . . . . 0.2550 . intronic . 0.205761 . . . . . . . . 0.2548 . 0 +11 6630524 ILK C T 1 0.000399361 0.0004 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign . . . 0.0008 . intronic . 0.000705 . . . . . . 0.0003 0.014 0.0010 . 2 +11 6630833 ILK G A 59 0.347444 0.2621 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2634 synonymous_SNV exonic . 0.275398 . . . . . . . . 0.2514 . 0 +11 6630962 ILK C T 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000419|hsa-miR-27b-3p|Experimental 0.0003 synonymous_SNV exonic . 0.000194 . . . . . . . . 0.0002 . 5 +11 6631016 ILK C T 51 0.160144 0.2683 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2599 synonymous_SNV exonic . 0.226996 . . . . . . . . 0.2647 . 1 +11 6631300 ILK G A 8 0.00579073 0.0128 . . . . . . . 0.0173 . intronic . 0.0113647 . . . . . . . . 0.0177 . 0 +11 6631561 ILK A C 1 0.00279553 0.0021 . . . . . . . 0.0021 . intronic . 0.002031 . . Name\x3dOREG1258265|N/A|SMARCA4|PAZAR . . . . . 0.0015 . 3 +11 19204403 CSRP3 A G 43 0.155152 0.1940 . . . . . . . . . intronic . 0.034204 . . . . . . . . . . 0 +11 19206426 CSRP3 A T 57 0.300919 0.2414 . . . . . . . . . intronic . 0.0516423 . . . . . . . . . Name\x3d96.688190 1 +11 19207841 CSRP3 C T 28 0.0427316 0.0982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000070|hsa-miR-17-5p|Experimental 0.1143 synonymous_SNV exonic . 0.0830002 . . . . . . . . 0.1073 Name\x3d99.546454 2 +11 19209640 CSRP3 T C 1 0.00139776 0.0017 . . . . Name\x3dENSR00000954250|Enhancer . . 0.0033 . intronic . 0.0025032 . . . . . . . . 0.0024 Name\x3d99.613307 4 +11 19209912 CSRP3 T A 2 0.00239617 0.0069 . . . . Name\x3dENSR00000954250|Enhancer . . . . intronic . 0.0010155 . . . . . . . . . . 3 +11 19213986 CSRP3 A G 4 0.00179712 0.0047 5.529 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0027684 T . . . P D . . 0.0054 Name\x3d99.685021 10 +11 47353498 MYBPC3 G A 24 0.356629 0.1750 . . . . . . . . . intronic . 0.0454199 . . Name\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR . . . . . 0.1747 Name\x3d98.840870 4 +11 47354068 MYBPC3 G A 24 0.341454 0.1753 . MedGen:CN169374 not_specified Benign . . . 0.1609 . intronic . 0.240197 . . . . . . . . 0.1646 Name\x3d98.452619 3 +11 47354787 MYBPC3 C T 49 0.476238 0.3168 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.3972 synonymous_SNV exonic . 0.353605 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.3039 Name\x3d99.864445 4 +11 47354851 MYBPC3 G C 1 0.000199681 . 1.231 MedGen:CN169374 not_specified Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1504538|N/A|EGR1|PAZAR . B T . . . Name\x3d99.873147 7.5 +11 47354905 MYBPC3 T C 24 0.0329473 0.1183 . MedGen:CN169374 not_specified Benign . . . 0.1594 . intronic . 0.0585245 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.1060 Name\x3d96.947408 2 +11 47355233 MYBPC3 C G 1 0.000199681 . 7.255 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.719e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.863446 11 +11 47356644 MYBPC3 G C 7 0.0239617 . -2.099 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . nonsynonymous_SNV exonic . 0.0007762 T . . . B T . . . Name\x3d99.774432 2.5 +11 47357416 MYBPC3 G A 4 0.0547125 0.0284 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0619 . intronic . 0.0271342 . . . . . . . . 0.0257 Name\x3d98.758324 1 +11 47357437 MYBPC3 G T 1 0.000199681 0.0004 0.220 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0005 nonsynonymous_SNV exonic . 0.000207 T . . . B T . . . Name\x3d99.868602 4.5 +11 47358997 MYBPC3 G A 4 0.048123 0.0413 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000430073|TF_binding_site . . 0.0378 synonymous_SNV exonic . 0.0437252 . . . . . . . . 0.0351 Name\x3d99.915080 2 +11 47360053 MYBPC3 G C 4 0.0694888 0.0424 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign . . . 0.0386 . intronic . 0.0497212 . . . . . . . . 0.0363 Name\x3d99.461397 1 +11 47361011 MYBPC3 C T 1 0.000798722 0.0039 . . . . . . . . . intronic . 0.0005175 . . . . . . . . 0.0038 Name\x3d98.908623 3 +11 47361164 MYBPC3 T A 1 0.000798722 0.0095 . . . . . . . 0.0077 . intronic . 0.0029172 . . . . . . . . 0.0034 Name\x3d97.785442 3 +11 47362465 MYBPC3 G C 25 0.340056 0.1882 . . . . . . . . . intronic rs10769254|Cardiovascular-disease||1E-15|PMID:30595370 0.246158 . . . . . . . . . Name\x3d96.364232 3 +11 47362642 MYBPC3 C T 6 0.00898562 0.0229 . . . . . . . 0.0288 . intronic . 0.0122508 . . . . . . . . 0.0192 Name\x3d97.026346 1 +11 47364187 MYBPC3 C T 1 0.000199681 0.0003 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.000207 . . . . . . . . 0.0001 Name\x3d99.750641 5 +11 47364762 MYBPC3 A G 214 0.964058 0.9992 . . . . . . . 0.9989 . intronic . 0.941696 . . . . . . . . 0.9982 Name\x3d96.831149 1 +11 47365014 MYBPC3 C T 27 0.0782748 0.1177 . MedGen:CN169374 not_specified Benign . . . 0.1836 . intronic . 0.0767972 . . . . . . . . 0.1174 Name\x3d96.066008 1 +11 47365199 MYBPC3 G A 68 0.249601 0.2912 . MedGen:CN169374 not_specified Benign . . . 0.3315 . intronic . 0.261911 . . . . . . . . 0.3084 Name\x3d99.405246 3 +11 47365214 MYBPC3 G A 14 0.0147764 0.0434 . . . . . . . 0.0419 . intronic . 0.0221019 . . . . . . . . 0.0368 Name\x3d96.053271 1 +11 47367738 MYBPC3 C A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d97.810661 5 +11 47367848 MYBPC3 C T 1 0.000998403 . 4.875 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 2.066e-05 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . . Name\x3d99.932637 3 +11 47367871 MYBPC3 C T 1 0.000798722 0.0095 4.274 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0073 nonsynonymous_SNV exonic . 0.0039068 T . . . B D . . 0.0038 Name\x3d99.905358 3 +11 47368153 MYBPC3 G T 2 0.00838658 0.0247 . . . . . . . 0.0260 . intronic . 0.0174771 . . . . . . . . 0.0242 Name\x3d99.235897 1 +11 47368860 MYBPC3 AAACC A 1 0.00139776 0.0018 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d96.366485 3 +11 47369443 MYBPC3 G A 26 0.0611022 0.1180 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2346 synonymous_SNV exonic . 0.0725993 . . . . . . . . 0.1184 Name\x3d99.777187 1 +11 47369453 MYBPC3 G A 1 0.000199681 . 1.955 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.854016 6.5 +11 47370041 MYBPC3 T C 27 0.0670927 0.1217 0.243 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1411 nonsynonymous_SNV exonic . 0.100898 T . . . B T . . 0.1263 Name\x3d99.574377 3.5 +11 47370107 MYBPC3 G A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.354e-05 . intronic . 1.94e-05 . . . . . . . . . Name\x3d96.555180 5 +11 47370150 MYBPC3 C T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d97.349997 5 +11 47371261 MYBPC3 C T 1 0.00239617 0.0026 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . Name\x3d97.566781 3 +11 47371330 MYBPC3 T C 1 0.00179712 0.0008 1.738 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0010 nonsynonymous_SNV exonic . 0.0017852 T . . . P D . . 0.0012 Name\x3d99.807663 3 +11 47371414 MYBPC3 C T 1 0.00199681 0.0025 2.583 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0024191 T . . . B T . . 0.0034 Name\x3d99.756327 4.5 +11 47371442 MYBPC3 G A 7 0.0249601 0.0466 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0495 synonymous_SNV exonic . 0.0392039 . . . . . . . . 0.0463 Name\x3d99.788302 1 +11 47371484 MYBPC3 AG A 164 0.610823 0.7227 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7338 . intronic . 0.0186738 . . . . . . . . 0.7248 Name\x3d96.588193 1 +11 47371578 MYBPC3 G A 3 0.00838658 0.0301 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0539 synonymous_SNV exonic . 0.015168 . . . . . . . . 0.0307 Name\x3d99.855628 1 +11 47371598 MYBPC3 C T 21 0.0329473 0.1015 4.662 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1541 nonsynonymous_SNV exonic . 0.0469787 T . . . P D . . 0.0864 Name\x3d99.787283 1 +11 47371664 MYBPC3 C T 1 0.000199681 . 3.139 . . . . . . 0.0002 . splicing . 1.29e-05 . . . . . . 1.0000 0.948 . Name\x3d99.189846 14 +11 47372741 MYBPC3 C A 2 0.000798722 0.0012 . . . . . . . 0.0030 . intronic . 0.0005304 . . . . . . . . 0.0018 Name\x3d99.313923 3 +11 47372749 MYBPC3 C G 1 0.0607029 0.0261 . . . . . . . 0.0365 . intronic . 0.0236025 . . . . . . . . 0.0217 Name\x3d99.313923 1 +11 74168330 KCNE3 A G 1 0.000199681 . . . . . . . . 5.598e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d98.824776 3 +11 74168361 KCNE3 C T 1 0.000998403 0.0050 2.265 EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0003768,MedGen:C1279412|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_fibrillation|Syncope|Periodic_paralysis|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0042 nonsynonymous_SNV exonic . 0.0030595 D . . . B D . . 0.0068 Name\x3d98.553020 4 +11 74168411 KCNE3 A G 25 0.141174 0.1309 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.1168 synonymous_SNV exonic rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915 0.128297 . . . . . . . . 0.1084 Name\x3d99.003009 -1 +11 111781003 CRYAB A T 1 0.000199681 . . . . . Name\x3dENSR00000044928|Promoter . . 1.86e-05 . intronic . 1.29e-05 . . Name\x3dOREG1496730|N/A|EGR1|PAZAR . . . . . . Name\x3d99.450023 7 +11 111781047 CRYAB A C 75 0.239816 0.2796 -0.652 Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000044928|Promoter . . 0.2925 . intronic . 0.26968 T . Name\x3dOREG1496730|N/A|EGR1|PAZAR . B T . . 0.3000 Name\x3d99.411629 5 +11 111782284 CRYAB C T 4 0.0091853 0.0212 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000044928|Promoter . . 0.0238 synonymous_SNV exonic . 0.0158148 . . . . . . . . 0.0226 Name\x3d99.834016 2 +11 118011860 SCN4B G A 43 0.141973 0.1833 . . . . . . . . . intronic . 0.0361121 . . Name\x3dOREG1485369|N/A|EGR1|PAZAR . . . . . . . -1 +11 118015832 SCN4B G A 8 0.0349441 0.0373 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0400 synonymous_SNV exonic . 0.0353876 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . 0.0374 Name\x3d99.865055 0 +11 118015959 SCN4B C G 2 0.000399361 . . . . . Name\x3dENSR00000045588|Promoter . . 9.28e-05 . UTR5 . 4.53e-05 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . . Name\x3d99.139305 5 +11 118023424 SCN4B G C 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000443850|Promoter . . 4.876e-05 . UTR5 . 3.88e-05 . . Name\x3dOREG1943539|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629526 5 +11 118037564 SCN2B G A 23 0.0780751 0.1038 . . . . . . . 0.1062 . UTR3 . 0.0890674 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . 0.0928 Name\x3d98.015659 0 +11 118037569 SCN2B C T 1 0.000399361 . . . . . . . . 3.683e-05 . UTR3 . 4.53e-05 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . . Name\x3d98.015659 4 +11 118037813 SCN2B G T 110 0.514377 0.4682 . MedGen:CN169374 not_specified Benign . . . 0.4746 . intronic . 0.489121 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . 0.0003 0.034 0.4707 . 0 +11 118038741 SCN2B C T 3 0.251797 0.0211 . . . . . . . . . intronic . 0.0152521 . . . . . . . . . . -2 +11 118039016 SCN2B G A 1 0.000199681 . . MedGen:C3809312,OMIM:615378 Atrial_fibrillation,_familial,_14 Likely_benign . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.01 . Name\x3d99.133619 3 +11 118039273 SCN2B T C 8 0.249601 0.0106 . . . . . . . 0.0152 . intronic . 0.0828903 . . . . . . . . 0.0163 . -2 +11 123504959 SCN3B C G 126 0.750599 0.5417 . . . . . . . 0.5547 . intronic . 0.605458 . . . . . . . . 0.5523 . -2 +11 123508842 SCN3B A G 3 0.0958466 0.0143 . . . . . . . . . intronic . 0.0072832 . . . . . . . . 0.0113 . -2 +11 123513161 SCN3B G A 25 0.0820687 0.0878 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0911 synonymous_SNV exonic . 0.0865254 . . . . . . . . 0.0896 Name\x3d99.804817 -1 +11 123513341 SCN3B G A 1 0.000199681 0.0001 . . . . . . . 7.425e-05 synonymous_SNV exonic . 6.5e-06 . . . . . . . . 0.0002 Name\x3d99.869310 3 +11 123524389 SCN3B A G 1 0.0443291 0.0022 . . . . Name\x3dENSR00000445310|Promoter . . . . intronic . 0.0043596 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.0022 Name\x3d98.903517 1 +11 123524411 SCN3B G A 32 0.142173 0.1371 . . . . Name\x3dENSR00000445310|Promoter . . 0.1413 . intronic . 0.143814 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.1395 Name\x3d98.921114 1 +11 128781287 KCNJ5 C T 1 0.000599042 . 5.122 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.920523 7 +11 128781339 KCNJ5 T C 188 0.869808 0.8248 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8289 synonymous_SNV exonic . 0.833178 . . . . . . . . 0.8250 Name\x3d99.914987 -1 +11 128781441 KCNJ5 C T 1 0.000199681 0.0004 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0002587 . . . . . . . . 0.0009 Name\x3d99.911585 1 +11 128781606 KCNJ5 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.889317 3 +11 128781978 KCNJ5 T G 188 0.866214 0.8211 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8270 synonymous_SNV exonic . 0.829368 . . . . . . . . 0.8216 Name\x3d99.918617 0 +11 128782002 KCNJ5 T C 188 0.867013 0.8210 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8269 synonymous_SNV exonic . 0.822868 . . . . . . . . 0.8216 Name\x3d99.923949 0 +11 128782012 KCNJ5 C G 213 0.995008 0.9777 0.157 MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.9786 nonsynonymous_SNV exonic . 0.967031 T . . . B T . . 0.9820 Name\x3d99.837086 0.5 +11 128782112 KCNJ5 C T 3 0.076278 0.0079 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign Name\x3dENSR00000963232|Enhancer . . 0.0109 . intronic . 0.0296827 . . . . . . 0.0001 . 0.0083 Name\x3d96.830285 0 +11 128786294 KCNJ5 G A 179 0.735823 0.7279 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign . . . 0.7328 . intronic . 0.724635 . . . . . . . 0.002 0.7279 . -2 +12 2224511 CACNA1C C T 5 0.0117812 0.0219 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0380 synonymous_SNV exonic . 0.0177165 . . . . . . . . 0.0235 Name\x3d99.624601 1 +12 2224553 CACNA1C G A 1 0.013778 0.0001 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0038809 . . . . . . . . 0.0005 Name\x3d99.337287 1 +12 2229476 CACNA1C G A 6 0.0253594 0.0220 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign . . . 0.0265 . intronic . 0.0250061 . . . . . . . . 0.0265 Name\x3d99.279141 1 +12 2558186 CACNA1C G A 54 0.120407 0.2137 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.2520 synonymous_SNV exonic . 0.171744 . . . . . . . . 0.2146 Name\x3d99.668478 1 +12 2558292 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.895333 5 +12 2558298 CACNA1C G A 63 0.260184 0.2575 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.139623 . . . . . . . . 0.2386 Name\x3d95.895333 1 +12 2558300 CACNA1C T C 63 0.26258 0.2574 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.140063 . . . . . . . . 0.2332 Name\x3d95.895333 1 +12 2602288 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.583121 5 +12 2602307 CACNA1C C G 11 0.0876597 0.0489 . . . . . . . 0.0526 . intronic . 0.052412 . . . . . . . . 0.0491 Name\x3d95.577165 1 +12 2613521 CACNA1C A G 96 0.546326 0.3714 . . . . . . . . . intronic . 0.0817842 . . Name\x3dOREG1231293|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.410224 2 +12 2613716 CACNA1C C T 26 0.0782748 0.0718 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0806 . intronic . 0.0752836 . . . . . . . . 0.0868 Name\x3d99.228769 1 +12 2614070 CACNA1C G T 1 0.000399361 0.0031 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0035 synonymous_SNV exonic . 0.0021927 . . . . . . . . 0.0034 Name\x3d99.805318 3 +12 2621912 CACNA1C G A 20 0.0597045 0.0448 . . . . . . . . . intronic . 0.0089456 . . . . . . . . . . 0 +12 2622016 CACNA1C G C 1 0.000199681 . 5.692 . . . . . . 1.952e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.619773 11 +12 2659082 CACNA1C G T 59 0.294928 0.2291 . . . . . . . 0.3213 . intronic . 0.208788 . . . . . . . . 0.2256 Name\x3d98.769595 1 +12 2666051 CACNA1C T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +12 2675802 CACNA1C G A 5 0.0561102 0.0117 . . . . . . . . . intronic . 0.0345781 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d95.105736 2 +12 2676683 CACNA1C C T 166 0.86222 0.8408 . . . . . . . . . intronic . 0.170593 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d98.331030 2 +12 2690702 CACNA1C G A 127 0.586661 0.7184 . . . . . . . . . intronic . 0.118343 . . . . . . . . . . 0 +12 2692186 CACNA1C T G 153 0.632588 0.7738 . . . . Name\x3dENSR00000448446|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1180333|N/A|TFAP2C|PAZAR,OREG1837260|N/A|PRDM14|PAZAR,OREG1231295|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.994648 3 +12 2693848 CACNA1C G A 1 0.00339457 0.0003 . . . . . . . . . intronic . 0.0010373 . . . . . . . . . Name\x3d96.799344 3 +12 2694470 CACNA1C G A 1 0.0415335 0.0006 . . . . . . . . . intronic . 0.0122176 . . . . . . . . . Name\x3d96.765479 1 +12 2694638 CACNA1C C T 25 0.145567 0.0772 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1356 synonymous_SNV exonic . 0.0873727 . . . . . . . . 0.0786 Name\x3d99.726858 1 +12 2694651 CACNA1C C T 2 0.00159744 0.0054 4.997 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0074 nonsynonymous_SNV exonic . 0.0021927 D . . . D T . . 0.0047 Name\x3d99.801019 6 +12 2695136 CACNA1C C T 2 0.00638978 0.0206 . . . . . . . . . intronic . 0.0027167 . . . . . . . . 0.0189 Name\x3d95.798291 1 +12 2706720 CACNA1C G C 204 0.951278 0.9756 . . . . . . . . . intronic . 0.186485 . . . . . . . . 0.9739 Name\x3d97.694135 1 +12 2706781 CACNA1C G A 1 0.000599042 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d97.842218 3 +12 2714835 CACNA1C C T 1 0.00119808 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 . intronic . 0.0010543 . . Name\x3dOREG1501389|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d98.993995 4 +12 2715687 CACNA1C A G 33 0.0535144 0.1081 . . . . . . . . . intronic . 0.0135703 . . . . . . . . . Name\x3d95.250824 1 +12 2715941 CACNA1C G A 2 0.00678914 0.0002 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . Name\x3d97.069674 3 +12 2717661 CACNA1C C A 1 0.000199681 6.482e-05 . . . . . . . 9.811e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d99.787542 5 +12 2719934 CACNA1C C T 33 0.052516 0.1079 . . . . . . . . . intronic . 0.0157242 . . . . . . . . . . 0 +12 2720988 CACNA1C T C 60 0.261781 0.1898 . . . . . . . . . intronic . 0.0394756 . . . . . . . . . . 0 +12 2721137 CACNA1C C T 60 0.259185 0.1903 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1837 synonymous_SNV exonic . 0.205521 . . . . . . . . . Name\x3d99.826561 1 +12 2743567 CACNA1C C T 1 0.000199681 0.0001 . . . . . . . 0.0003 . intronic . 0.0001164 . . . . . . . . 0.0001 Name\x3d99.663284 5 +12 2743650 CACNA1C A AT 48 0.204273 0.2752 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . Name\x3d97.825804 1 +12 2757756 CACNA1C T C 153 0.666933 0.8153 . . . . . . . . . intronic . 0.659136 . . . . . . . . . Name\x3d97.554267 1 +12 2757769 CACNA1C T C 154 0.666534 0.8153 . . . . . . . . . intronic . 0.124015 . . . . . . . . . Name\x3d98.534468 1 +12 2757782 CACNA1C C T 152 0.652955 0.8011 . . . . . . . . . intronic . 0.141686 . . . . . . . . . Name\x3d99.318145 1 +12 2760708 CACNA1C G A 148 0.670727 0.7791 . . . . . . . 0.7638 . intronic . 0.731414 . . . . . . . . 0.7671 Name\x3d98.468885 1 +12 2760898 CACNA1C C T 13 0.023762 0.0682 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0688 synonymous_SNV exonic . 0.0483758 . . . . . . . . 0.0673 Name\x3d99.830000 1 +12 2760965 CACNA1C GA G 79 0.382987 0.2604 . . . . . . . 0.2907 . intronic . 0.0092431 . . . . . . . . 0.2809 . 0 +12 2760970 CACNA1C G A 132 0.553914 0.7353 . . . . . . . 0.7238 . intronic . 0.652786 . . . . . . . . 0.7204 . 0 +12 2763143 CACNA1C G T 3 0.0119808 0.0022 . . . . . . . . . intronic . 0.0009185 . . . . . . . . . Name\x3d96.979367 1 +12 2774833 CACNA1C T C 3 0.0385383 0.0030 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.0031 synonymous_SNV exonic . 0.0139067 . . . . . . . . 0.0035 Name\x3d99.828309 1 +12 2778044 na G A 1 0.000199681 0.0003 . . . . . . . . . ncRNA_exonic . 2.59e-05 . . . . . . . . . . 2 +12 2778061 na C G 1 0.0738818 0.0008 . . . . . . . 0.0007 . ncRNA_exonic . 0.0217591 . . . . . . . . 0.0009 . -2 +12 2778272 na G GC 11 0.104633 0.0394 . . . . . . . . . ncRNA_intronic . 0.0134855 . . . . . . . . . . -2 +12 2786193 na A G 1 0.000199681 6.495e-05 . . . . . . . . . ncRNA_exonic . 7.68e-05 . . . . . . . . . . 2 +12 2787058 na C T 9 0.0802716 0.0356 . . . . . . . 0.0345 . ncRNA_exonic . 0.0538738 . . . . . . . . 0.0346 . -2 +12 2788615 CACNA1C C T 3 0.00299521 0.0135 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0297 synonymous_SNV exonic . 0.0056403 . . . . . . . . 0.0072 Name\x3d99.792239 1 +12 2788637 CACNA1C G A 1 0.000199681 0.0003 4.307 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0002652 D . . . P T . . 0.0001 Name\x3d99.762694 3 +12 2788732 CACNA1C C A 2 0.000998403 0.0016 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0012548 . . . . . . . . 0.0020 Name\x3d99.694112 3 +12 2788810 CACNA1C C T 11 0.019369 0.0678 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0681 synonymous_SNV exonic . 0.044579 . . . . . . . . 0.0613 Name\x3d99.722031 1 +12 2788879 CACNA1C G A 137 0.526358 0.7400 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.7357 synonymous_SNV exonic . 0.628414 . . . . . . . . 0.7295 Name\x3d99.549075 1 +12 2788925 CACNA1C C A 1 0.000199681 . . . . . . . . 9.595e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.646159 5 +12 2789787 na A G 13 0.189097 0.0439 . . . . . . . 0.0449 . ncRNA_intronic . 0.0354717 . . . . . . . . 0.0338 . -2 +12 2789789 na C G 13 0.189097 0.0439 . . . . . . . 0.0466 . ncRNA_intronic . 0.0354394 . . . . . . . . 0.0340 . -2 +12 2791130 CACNA1C C T 170 0.669129 0.8197 0.086 MedGen:CN169374 not_specified Benign . . . 0.8096 nonsynonymous_SNV exonic . 0.726103 T . . . B T . . 0.8213 Name\x3d98.816671 2.5 +12 2791132 CACNA1C A G 174 0.770567 0.8267 0.106 MedGen:CN169374 not_specified Benign . . . 0.8186 nonsynonymous_SNV exonic . 0.0007827 T . . . B T . . 0.8310 Name\x3d98.793459 2.5 +12 2791205 CACNA1C A G 214 1 1 . MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.928746 . . . . . . . . 1 Name\x3d98.807959 2.5 +12 2791722 CACNA1C C T 1 0.000199681 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004269 . . Name\x3dOREG1928344|N/A|TRIM28|PAZAR . . . . . 0.0006 Name\x3d99.719640 4 +12 2794977 CACNA1C G A 4 0.0359425 0.0202 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0298 synonymous_SNV exonic . 0.0253748 . . . . . . . . . Name\x3d99.578635 1 +12 2795023 na C T 1 0.0159744 0.0002 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign . . . 3.813e-05 . ncRNA_intronic . 0.0045213 . . . . . . . . . Name\x3d98.196180 -1 +12 2795255 na C T 199 0.770767 0.9554 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d95.652066 -1 +12 2797824 CACNA1C C T 1 0.000399361 6.494e-05 0.108 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Uncertain_significance . . . 5.644e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.294279 6.5 +12 2798006 na C T 1 0.000399361 0.0009 . . . . . . . . . ncRNA_intronic . 0.0013831 . . . . . . . . . . 0 +12 5153694 KCNA5 C T 5 0.0147764 0.0416 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0376 synonymous_SNV exonic . 0.0275029 . . . . . . . . 0.0411 Name\x3d99.913473 0 +12 5153820 KCNA5 G T 1 0.000199681 . . . . . Name\x3dENSR00000449123|Promoter . . 1.855e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.932107 4 +12 5154064 KCNA5 G A 2 0.0081869 0.0181 1.589 MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0127036 T . . . B T . . 0.0127 Name\x3d99.914867 1.5 +12 5154232 KCNA5 C T 1 0.00139776 0.0035 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000449123|Promoter . . 0.0030 nonsynonymous_SNV exonic . 0.0021022 D . . . B T . . 0.0028 Name\x3d99.823197 2 +12 5154242 KCNA5 C T 1 0.00319489 0.0055 1.204 MedGen:C2677106,OMIM:612240|MedGen:CN169374 Atrial_fibrillation,_familial,_7|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0054 nonsynonymous_SNV exonic . 0.0039974 T . . . B T . . 0.0064 Name\x3d99.836173 3.5 +12 5154277 KCNA5 G T 1 0.000199681 . 5.771 . . . Name\x3dENSR00000449123|Promoter . . 1.853e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.899245 10 +12 5154462 KCNA5 T C 214 0.98103 0.9999 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 1.0000 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.9999 Name\x3d99.867730 0 +12 5155046 KCNA5 G A 2 0.00319489 0.0084 0.664 MedGen:C2677106,OMIM:612240|MedGen:C4551804,OMIM:601144|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0082 nonsynonymous_SNV exonic . 0.0059184 T . . . B D . . 0.0093 Name\x3d99.856854 2 +12 5155130 KCNA5 A G 1 0.000199681 . 5.406 . . . Name\x3dENSR00000449123|Promoter . . 1.895e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.918375 10 +12 21918616 KCNJ8 G A 1 0.000199681 . . . . . . . . 0.0001 . UTR3 . 8.41e-05 . . . . . . . . 0.0002 . 2 +12 21918667 KCNJ8 G A 1 0.000199681 0.0005 2.046 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0026 nonsynonymous_SNV exonic . 0.0014618 T . . . B T . . 0.0022 Name\x3d98.098618 2.5 +12 21926614 KCNJ8 C T 1 0.000199681 . . . . . Name\x3dENSR00000049646|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1575939|N/A|FOXA1|PAZAR,OREG1634675|N/A|FOXA1|PAZAR . . . . . . . 4 +12 21960458 ABCC9 T C 1 0.000199681 . . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +12 21962721 ABCC9 G A 1 0.000998403 6.483e-05 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 +12 21965173 ABCC9 CTTAG C 4 0.00638978 0.0086 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 6 +12 21971087 ABCC9 A G 1 0.000998403 0.0031 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified Benign . . . 0.0032 synonymous_SNV exonic . 0.0019017 . . . . . . . . 0.0031 Name\x3d99.237309 3 +12 21981916 ABCC9 G A 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1574897|N/A|FOXA1|PAZAR,OREG1633616|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.451843 6 +12 21991197 ABCC9 T C 4 0.0115815 0.0345 . . . . . . . . . intronic . 0.0057761 . . . . . . . . . . 0 +12 21995253 ABCC9 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.285821 5 +12 21997678 ABCC9 G T 1 0.000199681 . . . . . . . . 3.686e-05 . intronic . 1.94e-05 . . . . . . . . . . 4 +12 21997874 ABCC9 C T 5 0.0501198 0.0347 . . . . . . . 0.0366 . intronic . 0.0356528 . . . . . . . . 0.0420 . 0 +12 21998493 ABCC9 A C 1 0.00239617 6.483e-05 . . . . . . . 0.0019 . intronic . 0.00174 . . . . . . . . 0.0007 . 2 +12 22001255 ABCC9 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +12 22001272 ABCC9 C T 5 0.0117812 0.0158 . . . . . . . . . intronic . 0.0032859 . . . . . . . . . . 0 +12 22005003 ABCC9 T G 84 0.334665 0.4031 . MedGen:CN169374 not_specified Benign . . . 0.4102 . intronic rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758 0.382576 . . . . . . . . 0.4124 . 0 +12 22005167 ABCC9 C T 2 0.00259585 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0090 . intronic . 0.0064876 . . . . . . . 0.036 0.0098 Name\x3d97.879803 1 +12 22005258 ABCC9 G T 13 0.0171725 0.0456 . . . . . . . 0.0512 . intronic . 0.0345144 . . . . . . . . 0.0512 . 0 +12 22005510 ABCC9 A G 214 0.994609 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 22015858 ABCC9 G A 1 0.000199681 . . . . . . . . 2.008e-05 . intronic . 1.29e-05 . . . . . . . . 0.0001 . 4 +12 22016004 ABCC9 GA AA,GAA,G 1 0.360423 0.3192 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4118 . intronic . 0.0193076 . . . . . . . . . . 0 +12 22017278 ABCC9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.997264 5 +12 22017398 ABCC9 C T 1 0.000199681 . 3.625 . . . . . . 3.698e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.052726 5 +12 22017410 ABCC9 C T 1 0.00399361 0.0089 2.389 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0103 nonsynonymous_SNV exonic . 0.0077942 T . . . B T 0.0344 0.194 0.0132 Name\x3d99.147069 2.5 +12 22017422 ABCC9 A G 214 0.998203 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 1 . intronic . 0.941288 . . . . . . 0.7220 0.39 1 Name\x3d99.030706 1.5 +12 22017428 ABCC9 C G 1 0.000199681 . . . . . . . . 3.698e-05 . intronic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.030706 5 +12 22017486 ABCC9 C G 214 0.998203 1 . . . . . . . . . intronic . 0.0001153 . . . . . . . . 1 . 0 +12 22025671 ABCC9 A G 1 0.000798722 0.0045 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified Benign/Likely_benign . . . 0.0039 . intronic . 0.0028072 . . . . . . 0.0001 0.002 0.0035 . 2 +12 22035615 ABCC9 A T 3 0.0391374 0.0156 . . . . . . . . . intronic . 0.0044372 . . . . . . . . . . 0 +12 22035847 ABCC9 T C 1 0.000199681 . . . . . . . . 3.7e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 +12 22035873 ABCC9 C T 150 0.534744 0.7825 . . . . . . . . . intronic . 0.135432 . . . . . . . . . . 0 +12 22035883 ABCC9 T G 53 0.421925 0.2004 . . . . . . . . . intronic . 0.0519528 . . . . . . . . . . 0 +12 22040784 ABCC9 C A 2 0.000399361 0.0005 2.197 MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 T . . . B T . . 0.0010 Name\x3d99.309743 4.5 +12 22040854 ABCC9 T G 1 0.000199681 6.478e-05 2.400 MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d99.208202 6.5 +12 22047151 ABCC9 G T 214 0.997804 1 . MedGen:CN169374 not_specified Benign . . . 1.0000 . intronic . 0.934878 . . . . . . . . 1 . 0 +12 22047174 ABCC9 C T 166 0.686302 0.6842 . . . . . . . . . intronic . 0.131344 . . . . . . . . . . 0 +12 22059121 ABCC9 C T 2 0.000399361 0.0002 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0006 synonymous_SNV exonic . 0.0003169 . . Name\x3dOREG1633617|N/A|FOXA1|PAZAR . . . . . 0.0002 Name\x3d99.613253 4 +12 22059244 ABCC9 A G 1 0.000199681 . . . . . . . . 3.902e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.635949 5 +12 22063115 ABCC9 A G 214 0.997204 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000965892|Enhancer . . 1.0000 synonymous_SNV exonic . 0.941314 . . . . . . . . 1 Name\x3d99.146457 2 +12 22063251 ABCC9 CA C 72 0.375799 0.4676 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4487 . intronic . 0.0001164 . . . . . . . . . . 0 +12 22063737 ABCC9 G T 214 0.991613 0.9997 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.00011 . . . . . . . . 0.9998 . 0 +12 22063749 ABCC9 T C 214 0.991613 0.9997 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9998 . intronic . 0.0001164 . . . . . . . . 0.9998 . 0 +12 22063971 ABCC9 A G 154 0.667332 0.6022 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 22068591 ABCC9 C T 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d98.197308 5 +12 22068849 ABCC9 G T 148 0.644768 0.5918 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.6004 . intronic . 0.600891 . . . . . . 0.0003 0.1 0.5925 Name\x3d98.653107 1 +12 22078838 ABCC9 T G 155 0.701677 0.6030 . MedGen:CN169374 not_specified Benign . . . 0.6145 . intronic . 0.628918 . . . . . . . . 0.6074 . 0 +12 22089425 ABCC9 A G 1 0.00199681 0.0078 . . . . . . . 0.0101 . intronic . 0.0059637 . . . . . . . . 0.0088 . 0 +12 25362777 KRAS A G 46 0.175519 0.2130 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.2221 synonymous_SNV exonic . 0.194758 . . . . . . . . 0.2160 Name\x3d99.450857 -1 +12 25362854 KRAS C T 1 0.0836661 0.0035 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign/Likely_benign . . . 0.0060 . intronic . 0.0269013 . . . . . . 0.0009 0.062 0.0049 Name\x3d98.923621 -1 +12 25368462 KRAS C T 214 0.997604 1 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 1 synonymous_SNV exonic . 0.936689 . . . . . . . . 1 Name\x3d99.523630 -1 +12 25398162 KRAS A C 1 0.000399361 0.0019 . MedGen:CN169374 not_specified Likely_benign . . . 0.0033 . intronic . 0.0015459 . . . . . . . . 0.0031 Name\x3d98.040179 1 +12 32945486 PKP2 G T 6 0.0339457 0.0243 . . . . . . . . . intronic . 0.0054851 . . . . . . . . 0.0283 Name\x3d95.639552 1 +12 32945495 PKP2 C T 143 0.450479 0.6576 . . . . . . . . . intronic . 0.115354 . . . . . . . . . Name\x3d96.122638 1 +12 32945721 PKP2 G T 143 0.45028 0.6579 . . . . . . . . . intronic . 0.115354 . . . . . . . . 0.6760 Name\x3d98.798832 1 +12 32949029 PKP2 A AG 23 0.318291 0.1390 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign . . . 0.1402 . intronic . 0.0059637 . . . . . . . . 0.1393 Name\x3d97.767636 1 +12 32949101 PKP2 G T 2 0.000599042 0.0006 7.211 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.000815 T . . . B D . . 0.0006 Name\x3d99.868951 6 +12 32949252 PKP2 AC A 23 0.304912 0.1195 . MedGen:CN169374 not_specified Benign . . . 0.1114 . intronic . 0.000304 . . . . . . . . 0.1207 Name\x3d96.915329 1 +12 32974245 PKP2 C T 177 0.591653 0.8152 . MedGen:CN169374 not_specified Benign . . . 0.8161 . intronic . 0.702416 . . . . . . . . 0.8183 Name\x3d99.032486 1 +12 32974352 PKP2 G A 1 0.000199681 0.0001 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . . Name\x3d99.909625 11 +12 32974523 PKP2 C T 2 0.00399361 0.0110 . . . . . . . . . intronic . 0.0019469 . . . . . . . . . Name\x3d99.438194 1 +12 32977103 PKP2 G GA 2 0.00219649 0.0054 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign . . . 0.0054 . intronic . 0.0001035 . . . . . . . . 0.0044 Name\x3d99.227632 3 +12 32994144 PKP2 A G 1 0.000199681 . . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . 0.0059 0.038 0.0001 Name\x3d99.739357 5 +12 32994180 PKP2 G T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.547518 5 +12 33003918 PKP2 A G 1 0.00279553 0.0039 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign Name\x3dENSR00000454896|Enhancer . . 0.0035 . intronic . 0.0029042 . . . . . . 0.0002 0.038 0.0030 Name\x3d99.129710 4 +12 33021934 PKP2 A G 37 0.151358 0.2195 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2072 nonsynonymous_SNV exonic . 0.183161 T . . . B T . . 0.2301 Name\x3d99.695445 2.5 +12 33030802 PKP2 T C 1 0.000998403 0.0006 -1.051 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000454924|Enhancer . . 0.0028 nonsynonymous_SNV exonic . 0.0016365 T . . . B T . . 0.0022 Name\x3d99.908348 5.5 +12 33031309 PKP2 T C 1 0.000199681 0.0012 0.338 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000279|hsa-miR-222-3p|Experimental 0.0014 nonsynonymous_SNV exonic . 0.0010996 T . . . B T . . 0.0019 Name\x3d99.865158 5.5 +12 33031799 PKP2 A G 1 0.00179712 0.0072 . . . . . . . . . intronic . 0.0009767 . . . . . . . . . Name\x3d99.016007 3 +12 33049590 PKP2 C T 2 0.00299521 0.0081 6.871 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000050745|Promoter . . 0.0230 nonsynonymous_SNV exonic . 0.0058925 D . Name\x3dOREG1177020|N/A|TFAP2C|PAZAR,OREG1497724|N/A|EGR1|PAZAR . D D . . 0.0068 Name\x3d99.954482 9 +12 98909876 TMPO C T 1 0.000199681 . . . . . Name\x3dENSR00000056128|Promoter . . 4.381e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1251609|N/A|SMARCA4|PAZAR,OREG1169900|N/A|TFAP2C|PAZAR,OREG1490154|N/A|EGR1|PAZAR,OREG1221463|N/A|SMARCA4|PAZAR,OREG1792011|N/A|RBL2|PAZAR . . . . . . Name\x3d98.774619 7 +12 98925650 TMPO G T 110 0.530351 0.5641 . . . . . . . 0.5553 . intronic . 0.526552 . . . . . . . . 0.5688 . 0 +12 98926985 TMPO C G 1 0.0299521 0.0014 3.863 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674574,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.010168 T . Name\x3dOREG1251610|N/A|SMARCA4|PAZAR . B D . . 0.0017 Name\x3d99.262299 2 +12 98927147 TMPO C G 1 0.000199681 . 5.570 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.367424 8 +12 98927278 TMPO T G 1 0.000199681 . 0.194 . . . . . . 9.209e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . B D . . 0.0001 Name\x3d98.925601 5 +12 98927830 TMPO C G 29 0.0589058 0.0945 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000972255|Enhancer . . 0.0983 nonsynonymous_SNV exonic . 0.0845397 T . Name\x3dOREG1734232|N/A|HNF4A|PAZAR,OREG1709425|N/A|HNF4A|PAZAR . P T . . 0.0965 Name\x3d99.334910 6.5 +12 98938894 TMPO T C 1 0.000199681 7.183e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +12 98938907 TMPO G T 99 0.444089 0.0115 . . . . . . . . . intronic . 0.0879822 . . . . . . . . . . 0 +12 98938911 TMPO T TG 4 0.0425319 0.0142 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 98940228 TMPO A AT 23 0.086262 0.0844 . MedGen:CN169374 not_specified Benign . . . 0.0731 . intronic . 0.0024838 . . . . . . . . 0.0840 Name\x3d99.262833 1 +12 98940250 TMPO A G 1 0.000199681 . . . . . . . . 0.0001 . intronic . 0.0001746 . . . . . . . . 0.0001 . 4 +12 98940289 TMPO T A 3 0.00199681 0.0039 . . . . . . . . . intronic . 0.0007115 . . . . . . . . . . 6 +12 98941637 TMPO A G 2 0.00279553 0.0040 . MedGen:CN169374 not_specified Likely_benign . . . 0.0053 . UTR3 . 0.0037322 . . . . . . . . 0.0059 Name\x3d99.244344 3 +12 111350807 MYL2 G A 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023868 . . . . . . . . . . 0 +12 111350999 MYL2 G A,T 3 0.00439297 0.0176 . . . . . . . 0.0140 . intronic . 0.0109701 . . . . . . . . . Name\x3d98.757976 1 +12 111351002 MYL2 CA C 1 0.0449281 0.0002 . . . . . . . 0.0003 . intronic . 0.0002781 . . . . . . . . 0.0005 Name\x3d98.532868 1 +12 111351003 MYL2 A AG 11 0.10024 0.0725 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign . . . 0.0710 . intronic . 0.0071668 . . . . . . . . 0.0664 Name\x3d98.532868 1 +12 111351029 MYL2 TC T 57 0.252596 0.3080 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign . . . 0.2951 . intronic . 0.0086157 . . . . . . . . 0.3138 Name\x3d98.955156 1 +12 111351186 MYL2 C T 11 0.102636 0.0723 . MedGen:CN517202 not_provided not_provided . . . . . intronic . 0.015058 . . . . . . . . 0.0644 Name\x3d97.151560 1 +12 111351204 MYL2 T G 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023609 . . . . . . . . . Name\x3d97.665065 1 +12 111351932 MYL2 C A 3 0.00439297 0.0176 . . . . . . . . . intronic . 0.0107192 . . . . . . . . . . 0 +12 111351937 MYL2 C T 11 0.0982428 0.0726 . . . . . . . . . intronic . 0.0753419 . . . . . . . . . . 0 +12 111351973 MYL2 C CAG 3 0.00539137 0.0176 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10 Benign . . . 0.0139 . intronic . 0.0002652 . . . . . . . . 0.0134 Name\x3d95.730780 1 +12 111353556 MYL2 A G 15 0.115216 0.0900 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0854 synonymous_SNV exonic . 0.099643 . . . . . . . . 0.0801 Name\x3d99.934138 1 +12 111357074 MYL2 T A 15 0.166134 0.0901 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0203296 . . . . . . . . . Name\x3d97.406044 2 +12 111358234 MYL2 G A 3 0.0207668 0.0140 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0022251 . . . . . . . . 0.0116 Name\x3d98.765627 2 +12 111358252 MYL2 C G 2 0.00119808 0.0019 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0003558 . . . . . . . . . Name\x3d98.370126 4 +12 111358266 MYL2 C T 3 0.0155751 0.0143 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0025291 . . . . . . . . 0.0116 Name\x3d98.842829 2 +12 111358423 MYL2 A G 1 0.000199681 . . . . . . . . . . upstream . 3.84e-05 . . . . . . . . . Name\x3d99.815549 5 +12 112856954 PTPN11 G C 2 0.0632987 0.0177 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign Name\x3dENSR00000057523|Promoter . . 0.0099 . intronic . 0.0070956 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1876458|N/A|STAT1|PAZAR . . . . . . Name\x3d99.618165 2 +12 112856983 PTPN11 C A 2 0.0453275 0.0176 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign Name\x3dENSR00000057523|Promoter . . . . intronic . 0.0217458 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1876458|N/A|STAT1|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.767916 2 +12 112888140 PTPN11 C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.767811 3 +12 112891203 PTPN11 G C 2 0.00599042 0.0146 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0149 . intronic . 0.0102263 . . . . . . . . 0.0127 Name\x3d98.361145 -1 +12 112893675 PTPN11 GTTT GTT 104 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d97.537355 13 +12 112910723 PTPN11 A G 1 0.000199681 0.0008 . . . . . . . 0.0006 . intronic . 0.0003105 . . . . . . . . 0.0006 Name\x3d98.735471 1 +12 112915434 PTPN11 C T 11 0.0365415 0.0800 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0785 . intronic . 0.0604003 . . . . . . . . 0.0741 Name\x3d96.940777 1 +12 112919869 PTPN11 C A 1 0.0429313 0.0162 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified Benign/Likely_benign . . . 0.0104 . intronic . 0.0195793 . . . . . . 0.0068 0.106 0.0107 Name\x3d99.002032 0 +12 114793297 TBX5 T C 3 0.0806709 0.0046 . MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374 Holt-Oram_syndrome|not_specified Benign . . . 0.0051 . UTR3 . 0.0318042 . . . . . . . . 0.0028 Name\x3d98.156487 -1 +12 114803927 TBX5 A G 1 0.000798722 . -0.076 . . . . . . . . intronic . 0.0001035 T . . . B D . . . Name\x3d99.566178 1 +12 114803954 TBX5 G A 1 0.00239617 0.0094 -0.054 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.0076 . intronic . 0.0056791 T . . . D T . . 0.0097 Name\x3d99.353174 1 +12 114832510 TBX5 C A 129 0.528754 0.6126 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.6266 . intronic . 0.592625 . . . . . . . . 0.6307 Name\x3d98.128885 -1 +12 114841589 TBX5 G A 2 0.000798722 . 5.798 . . . Name\x3dENSR00000470627|Promoter . . 3.762e-05 nonsynonymous_SNV exonic . 8.41e-05 D . Name\x3dOREG1820206|N/A|RBL2|PAZAR . P D . . . Name\x3d99.930310 6 +14 23851325 MYH6 G A 1 0.0485224 0.0041 . . . . . . . . . intronic . 0.0029948 . . . . . . . . 0.0041 . 0 +14 23851400 MYH6 C T 30 0.122005 0.1157 . . . . . . . . . intronic . 0.0221731 . . . . . . . . . . 1 +14 23852497 MYH6 T C 1 0.0848642 0.0044 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0033 synonymous_SNV exonic . 0.0258276 . . . . . . . . 0.0069 Name\x3d99.883800 1 +14 23852537 MYH6 T G 19 0.240415 0.0265 . . . . . . . 0.0115 . intronic . 0.0078071 . . . . . . . 0.014 . Name\x3d97.511401 1 +14 23852541 MYH6 A G 19 0.241214 0.0253 . . . . . . . 0.0091 . intronic . 0.0078265 . . . . . . 0.0001 0.002 . . 0 +14 23852545 MYH6 T G 18 0.240016 0.0224 . . . . . . . 0.0970 . intronic . 0.0077877 . . . . . . . . . . 0 +14 23852548 MYH6 G A 3 0.0523163 . . . . . . . . 0.0006 . intronic . 0.0016947 . . . . . . . . . . 0 +14 23852550 MYH6 G A 9 0.141573 0.0001 . . . . . . . 0.0082 . intronic . 0.0045989 . . . . . . . . . . 0 +14 23853629 MYH6 T C 75 0.229633 0.2396 . MedGen:CN169374 not_specified Benign . . . 0.2694 . intronic . 0.2499 . . . . . . . . 0.2644 . 0 +14 23853739 MYH6 C T 1 0.000399361 0.0002 1.468 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.906427 6.5 +14 23853740 MYH6 C T 1 0.000399361 0.0002 0.952 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.906427 6.5 +14 23854155 MYH6 G A 29 0.0363419 0.1116 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1045 synonymous_SNV exonic . 0.0772823 . . . . . . . . 0.1158 Name\x3d99.826898 2 +14 23854272 MYH6 T C 19 0.072484 0.0785 . MedGen:CN169374 not_specified Benign . . . 0.0898 . intronic . 0.0795915 . . . . . . . . 0.0844 . 1 +14 23854324 MYH6 A G 124 0.488019 0.4519 . . . . . . . . . intronic . 0.0920234 . . . . . . . . . Name\x3d97.203124 1 +14 23855320 MYH6 G A 29 0.0365415 0.1116 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1047 synonymous_SNV exonic . 0.0777868 . . . . . . . . 0.1159 Name\x3d99.760304 2 +14 23855357 MYH6 T A 1 0.0489217 0.0042 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0031 . intronic . 0.0153426 . . . . . . . . 0.0059 . 0 +14 23855478 MYH6 C G 29 0.0365415 0.1114 . MedGen:CN169374 not_specified Benign . . . 0.1038 . intronic . 0.0767778 . . . . . . . . 0.1149 . 1 +14 23855511 MYH6 C T 3 0.00539137 0.0130 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0144 . intronic . 0.00967 . . . . . . . . 0.0109 Name\x3d96.810167 1 +14 23855569 MYH6 A G 124 0.492812 0.4530 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.4844 synonymous_SNV exonic . 0.433811 . . . . . . . . 0.4855 Name\x3d99.731303 1 +14 23855645 MYH6 A G 1 0.048722 0.0044 1.714 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0030 nonsynonymous_SNV exonic . 0.0029495 T . . . B T . . 0.0019 Name\x3d99.874320 2.5 +14 23855705 MYH6 T A 1 0.0491214 0.0041 1.421 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0030 nonsynonymous_SNV exonic . 0.0029172 T . . . B T . . 0.0034 Name\x3d99.694755 2.5 +14 23855711 MYH6 T C 1 0.000599042 0.0001 4.594 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 9.06e-05 D . . . D D . . 0.0001 Name\x3d99.896955 6 +14 23855849 MYH6 C T 74 0.235224 0.2390 . MedGen:CN169374 not_specified Benign . . . 0.2698 . intronic . 0.247021 . . . . . . . . 0.2634 Name\x3d96.350017 1 +14 23856714 MYH6 G A 14 0.019369 0.0334 . . . . . . . 0.0413 . intronic . 0.0303489 . . . . . . . . 0.0417 . 0 +14 23856861 MYH6 C T 1 0.0325479 0.0043 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0112806 . . . . . . 0.0269 0.166 0.0057 Name\x3d99.643398 1 +14 23856896 MYH6 A G 96 0.471645 0.5002 . MedGen:CN169374 not_specified Benign . . . 0.4970 . intronic . 0.490039 . . . . . . . . 0.4965 . 0 +14 23857100 MYH6 C T 1 0.000199681 . . . . . . . . 3.682e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.848252 5 +14 23857351 MYH6 G A 95 0.419728 0.3462 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3588 . intronic . 0.346321 . . . . . . . . 0.3660 Name\x3d96.733952 1 +14 23858008 MYH6 C T 1 0.000998403 0.0029 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.045804 3 +14 23858232 MYH6 C T 30 0.0347444 0.1168 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1078 synonymous_SNV exonic . 0.0789964 . . . . . . . . 0.1172 Name\x3d99.902271 2 +14 23858275 MYH6 G C 1 0.0279553 0.0077 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0070 . intronic . 0.011203 . . . . . . 0.0002 0.026 . Name\x3d98.665719 1 +14 23858697 MYH6 C G 3 0.00419329 0.0026 6.301 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.003247 D . . . D D . . 0.0044 Name\x3d99.898914 13 +14 23859551 MYH6 G C 1 0.000199681 . 5.232 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.932802 11 +14 23859610 MYH6 C T 35 0.0728834 0.1119 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1203 nonsynonymous_SNV exonic . 0.091894 T . . . P T . . . Name\x3d99.917217 1 +14 23859714 MYH6 C T 10 0.0992412 0.0678 . . . . . . . . . intronic . 0.0139325 . . . . . . . . . Name\x3d98.029449 1 +14 23861811 MYH6 A G 87 0.3748 0.3666 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3613 nonsynonymous_SNV exonic rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201 0.334659 T . . . B T . . 0.3737 Name\x3d99.907217 2.5 +14 23862710 MYH6 C T 2 0.00419329 0.0147 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0131 synonymous_SNV exonic . 0.0096506 . . . . . . . . 0.0120 Name\x3d99.934523 1 +14 23862783 MYH6 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +14 23862785 MYH6 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +14 23863152 MYH6 A G 4 0.0585064 0.0067 . . . . . . . 0.0115 . intronic . 0.0257435 . . . . . . . . 0.0099 Name\x3d98.127534 1 +14 23863247 MYH6 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . . 4 +14 23865885 MYH6 G A 84 0.367812 0.3590 . MedGen:CN169374 not_specified Benign . . . 0.3525 . intronic rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448 0.339006 . . . . . . . . 0.3628 . 0 +14 23866146 MYH6 G C 11 0.0325479 0.0099 . . . . . . . 0.0146 . intronic . 0.0213257 . . . . . . . . 0.0124 . 0 +14 23866189 MYH6 G A 11 0.0339457 0.0100 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0148 synonymous_SNV exonic . 0.021785 . . . . . . . . 0.0127 Name\x3d99.914829 1 +14 23866713 MYH6 A G 73 0.30651 0.3235 . MedGen:CN169374 not_specified Benign . . . 0.3140 . intronic . 0.291173 . . . . . . . . 0.3187 Name\x3d95.363987 1 +14 23866872 MYH6 C G 2 0.000399361 0.0005 . . . . . . . 0.0007 . intronic . 0.000401 . . . . . . . . . . 2 +14 23866925 MYH6 G C 3 0.0499201 0.0056 . . . . . . . . . intronic . 0.0038098 . . . . . . . . . . 0 +14 23868285 MYH6 G A 64 0.16873 0.2597 . MedGen:CN169374 not_specified Benign . . . 0.2591 . intronic . 0.211808 . . . . . . . . 0.2597 . 0 +14 23869665 MYH6 CA C 1 0.00379393 0.0093 . . . . . . . 0.0107 . intronic . 0.0002652 . . . . . . . . 0.0118 Name\x3d96.904842 1 +14 23869993 MYH6 G A 26 0.0321486 0.0556 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0688 synonymous_SNV exonic . 0.0529877 . . . . . . . . 0.0620 Name\x3d99.865212 1 +14 23871753 MYH6 G A 1 0.000199681 . 4.859 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.894652 8 +14 23871840 MYH6 G T 1 0.00119808 0.0059 . . . . Name\x3dENSR00000492685|Promoter . . 0.0068 . intronic . 0.0046248 . . . . . . . . 0.0060 . 3 +14 23871909 MYH6 G A 3 0.0423323 0.0055 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0103 synonymous_SNV exonic . 0.0195728 . . . . . . . . 0.0087 Name\x3d99.812513 2 +14 23871999 MYH6 C T 2 0.0311502 0.0008 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0006 synonymous_SNV exonic . 0.0091137 . . . . . . . . 0.0007 Name\x3d99.875589 2 +14 23872666 MYH6 T C 159 0.784944 0.7590 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.7616 . intronic . 0.0001423 . . . . . . . . 0.7680 Name\x3d98.013707 2 +14 23873021 MYH6 C T 9 0.0455272 0.0299 . . . . Name\x3dENSR00000492685|Promoter . . 0.0378 . intronic . 0.0289194 . . . . . . . . 0.0364 Name\x3d98.029508 2 +14 23873056 MYH6 A C 1 0.00139776 0.0034 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0006339 . . . . . . . . 0.0047 Name\x3d97.253559 4 +14 23873092 MYH6 G A 61 0.159145 0.2564 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0366425 . . . . . . . . . . 1 +14 23873940 MYH6 C T 2 0.00199681 0.0060 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0087 nonsynonymous_SNV exonic . 0.0053686 T . . . B T . . 0.0069 Name\x3d99.923043 5.5 +14 23874364 MYH6 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000492685|Promoter . . 9.2e-05 . intronic . 4.53e-05 . . . . . . . . 0.0001 . 5 +14 23874507 MYH6 G T 27 0.0776757 0.0995 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.1056 synonymous_SNV exonic . 0.0926443 . . . . . . . . 0.1095 Name\x3d99.918043 2 +14 23874523 MYH6 C T 61 0.154353 0.2605 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.2609 synonymous_SNV exonic . 0.209881 . . . . . . . . 0.2608 Name\x3d99.885635 2 +14 23874541 MYH6 C T 9 0.0571086 0.0858 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0805 synonymous_SNV exonic . 0.0691712 . . . . . . . . 0.0884 Name\x3d99.927291 2 +14 23874851 MYH6 C T 1 0.00139776 0.0072 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000492685|Promoter . . 0.0052 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0051 Name\x3d99.900130 4 +14 23876216 MYH6 G A 9 0.0497204 0.0301 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492685|Promoter . . 0.0289 . intronic . 0.0310992 . . . . . . . . 0.0364 . 1 +14 23876267 MYH6 C T 9 0.0567093 0.0854 5.156 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0805 nonsynonymous_SNV exonic . 0.0673342 T . . . D D . . 0.0883 Name\x3d99.738408 5 +14 23876347 MYH6 C T 1 0.00419329 0.0003 3.306 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000492685|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0014165 T . . . P T . . 0.0002 Name\x3d99.869857 5.5 +14 23881950 MYH7 C T 19 0.0636981 0.0759 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . . . UTR3 . 0.0138226 . . . . . . . . . Name\x3d99.771126 1 +14 23882043 MYH7 C T 1 0.00139776 0.0073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0080 . UTR3 . 0.0053492 . . . . . . . . 0.0066 Name\x3d98.786623 3 +14 23882144 MYH7 T C 81 0.384385 0.3720 . . . . . . . . . intronic . 0.0711246 . . . . . . . . 0.3705 Name\x3d96.876321 1 +14 23882186 MYH7 T G 72 0.351038 0.3639 . . . . . . . . . intronic . 0.066351 . . . . . . . . . Name\x3d96.461272 1 +14 23883184 MYH7 C T 34 0.134984 0.1652 . MedGen:CN169374 not_specified Benign . . . 0.1566 . intronic . 0.133963 . . . . . . . . 0.1524 Name\x3d96.414736 1 +14 23883374 MYH7 C T 1 0.00479233 0.0005 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 2 +14 23883404 MYH7 C G 19 0.0617013 0.0751 . . . . . . . . . intronic . 0.0134604 . . . . . . . . . . 0 +14 23884137 MYH7 T A 19 0.116813 0.1213 . . . . . . . . . intronic . 0.0227423 . . . . . . . . . . 0 +14 23884174 MYH7 G T 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 7.76e-05 . . . . . . . . 0.0001 . 4 +14 23884524 MYH7 C A 9 0.0309505 0.0074 . MedGen:CN169374 not_specified Benign . . . 0.0113 . intronic . 0.0195664 . . . . . . . . 0.0098 Name\x3d98.581077 1 +14 23884889 MYH7 C T 19 0.117612 0.1214 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1148 synonymous_SNV exonic . 0.10853 . . . . . . . . 0.1317 Name\x3d99.956978 1 +14 23884981 MYH7 C T 1 0.000199681 . 4.429 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . B D . . . Name\x3d99.961127 8 +14 23886010 MHRT G T 1 0.000199681 0.0003 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +14 23886155 MYH7 A G 3 0.0111821 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0078 synonymous_SNV exonic . 0.0119339 . . . . . . . . 0.0067 Name\x3d99.942853 1 +14 23886264 MHRT C T 35 0.136981 0.1640 . . . . . . . . . ncRNA_intronic . 0.0289906 . . . . . . . . . Name\x3d96.574244 -1 +14 23886409 MYH7 G C 3 0.00519169 0.0112 3.122 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0103 nonsynonymous_SNV exonic . 0.008137 T . . . B D . . 0.0115 Name\x3d99.951914 1 +14 23886509 MYH7 G C 1 0.000199681 . 4.335 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.940907 8 +14 23886597 MHRT C A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . Name\x3d98.113237 3 +14 23887645 MYH7 T C 73 0.351238 0.3611 . MedGen:CN169374 not_specified Benign . . . 0.3636 . intronic . 0.315158 . . . . . . . . 0.3634 Name\x3d99.429998 1 +14 23888323 MYH7 T TG 73 0.337061 0.3603 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . . . . . intronic . 0.0472115 . . . . . . . . . Name\x3d95.776626 1 +14 23888368 MYH7 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.115275 5 +14 23888371 MYH7 G A 2 0.00459265 0.0204 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0161 . intronic . 0.0114811 . . . . . . . . 0.0135 Name\x3d99.287787 1 +14 23888665 MYH7 A T 73 0.336661 0.3608 . MedGen:CN169374 not_specified Benign . . . 0.3504 . intronic . 0.314136 . . . . . . . . 0.3628 Name\x3d97.431162 1 +14 23888671 MYH7 G A 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Benign . . . 0.0054 . intronic . 0.0039909 . . . . . . . . 0.0043 Name\x3d98.456038 3 +14 23889445 MYH7 T TG 11 0.0403355 0.0709 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0002 . splicing . 0.0021151 . . . . . . . . . Name\x3d99.911055 9 +14 23890074 MYH7 G A 2 0.000599042 0.0004 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d98.334011 3 +14 23891481 MYH7 C T 2 0.00319489 0.0090 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0069 synonymous_SNV exonic . 0.0052522 . . . . . . . . 0.0077 Name\x3d99.944357 3 +14 23891496 MYH7 C T 1 0.000199681 . 3.877 MedGen:CN169374 not_specified Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.961235 8 +14 23892819 MYH7 G A 2 0.00259585 0.0003 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0005 synonymous_SNV exonic . 0.001423 . . . . . . . . . Name\x3d99.935932 3 +14 23892879 MYH7 C T 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.52e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.952616 5 +14 23892888 MYH7 A G 73 0.376398 0.3260 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.3256 synonymous_SNV exonic . 0.32052 . . Name\x3dOREG0804994|N/A|JUND(var.2)|JASPAR . . . . . 0.3288 Name\x3d99.945404 2 +14 23892948 MYH7 C A 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.890238 6 +14 23892950 MYH7 C T 1 0.0507188 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0145664 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . 0.0009 Name\x3d98.890238 2 +14 23894051 MYH7 C T 1 0.000199681 . 7.365 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.956137 11 +14 23894291 MYH7 C T 9 0.0301518 0.0073 . . . . . . . . . intronic . 0.0030271 . . . . . . . . . Name\x3d97.785330 1 +14 23895083 MYH7 T C 29 0.251997 0.1542 . . . . . . . . . intronic . 0.0230463 . . . . . . . . . Name\x3d97.594066 1 +14 23896823 MYH7 A T 1 0.000199681 . 5.665 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.944014 8 +14 23897077 MYH7 T C 1 0.0329473 0.0005 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0006 synonymous_SNV exonic . 0.0099223 . . . . . . . . 0.0009 Name\x3d99.953995 1 +14 23897156 MYH7 G A 3 0.00119808 0.0032 . . . . . . . . . intronic . 0.000414 . . . . . . . . . Name\x3d98.087525 7 +14 23898105 MYH7 C A 1 0.000199681 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 4 +14 23898122 MYH7 G C 2 0.000599042 0.0002 . . . . . . . 0.0007 . intronic . 0.0007827 . . . . . . . . 0.0007 Name\x3d95.095864 3 +14 23898504 MYH7 C T 1 0.000199681 6.488e-05 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0001 Name\x3d99.944366 5 +14 23898994 MYH7 G A 9 0.15615 0.0788 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0777 synonymous_SNV exonic . 0.0943131 . . . . . . . . 0.0867 Name\x3d99.861634 1 +14 23899027 MYH7 C T 35 0.0796725 0.1631 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1570 synonymous_SNV exonic . 0.118517 . . . . . . . . 0.1513 Name\x3d99.919528 1 +14 23899060 MYH7 G A 19 0.0638978 0.0740 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0775 synonymous_SNV exonic . 0.0701091 . . . . . . . . 0.0795 Name\x3d99.937441 1 +14 23899725 MYH7 A G 9 0.170527 0.0811 . MedGen:CN169374 not_specified Benign . . . 0.0877 . intronic . 0.097088 . . . . . . . . 0.0886 . 0 +14 23899793 MYH7 G A 8 0.0145767 0.0237 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0291 synonymous_SNV exonic . 0.0210541 . . . . . . . . 0.0290 Name\x3d99.923626 1 +14 23900093 MYH7 C T 7 0.0471246 0.0066 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492689|Promoter . . 0.0096 . intronic . 0.0225288 . . . . . . . . 0.0091 Name\x3d99.498820 3 +14 23900794 MYH7 G A 31 0.263778 0.1551 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.1598 synonymous_SNV exonic . 0.18208 . . . . . . 0.0008 0.104 0.1680 Name\x3d99.958007 2 +14 23901012 MYH7 T C 7 0.00579073 0.0128 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.0155 synonymous_SNV exonic . 0.0110477 . . . . . . . . 0.0147 Name\x3d99.929636 2 +14 23901581 MYH7 G T 1 0.033147 0.0005 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0016623 . . . . . . . . . . 1 +14 23901582 MYH7 G C 19 0.061901 0.0740 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0017673 . . . . . . . . . . 1 +14 23902269 MYH7 C T 1 0.000998403 0.0016 . . . . Name\x3dENSR00000492689|Promoter . . 0.0020 . intronic . 0.0013777 . . . . . . . . 0.0023 . 3 +14 23902753 MYH7 G A 103 0.520367 0.4776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.4760 synonymous_SNV exonic . 0.485375 . . . . . . . . 0.4841 Name\x3d99.951153 2 +14 23902966 MYH7 C G 1 0.000199681 . . . . . Name\x3dENSR00000492689|Promoter . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.384884 6 +14 23902974 MYH7 C A 19 0.0615016 0.0742 . . . . Name\x3dENSR00000492689|Promoter . . 0.0787 . intronic . 0.06595 . . . . . . . . 0.0778 Name\x3d98.614317 2 +14 73614748 PSEN1 G A 1 0.000399361 . . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental 9.25e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.483541 6 +14 73637794 PSEN1 G A 1 0.000998403 0.0051 . . . . . . . 0.0042 . intronic . 0.0027684 . . . . . . . . 0.0052 Name\x3d97.323207 3 +14 73664718 PSEN1 T C 21 0.0189696 0.0520 . . . . Name\x3dENSR00000501807|Enhancer . . 0.0727 . intronic . 0.0361444 . . . . . . . . 0.0523 Name\x3d97.422357 2 +14 73664853 PSEN1 G T 124 0.671526 0.5402 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000501807|Enhancer . . 0.5715 . intronic . 0.58791 . . . . . . . . 0.5613 Name\x3d98.910676 2 +14 73673178 PSEN1 A G 3 0.00559105 0.0228 2.110 Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0203 nonsynonymous_SNV exonic . 0.0145406 D . . . B T 0.0688 0.186 0.0187 Name\x3d98.705170 1 +14 76425507 TGFB3 C G 1 0.000199681 . . . . . Name\x3dENSR00000987039|Enhancer . . 1.84e-05 . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d98.361607 6 +14 76429868 TGFB3 A G 25 0.146166 0.0674 . . . . Name\x3dENSR00000987041|Enhancer . . 0.0774 . intronic . 0.0936146 . . . . . . . . 0.0766 . 1 +14 76432117 TGFB3 GC G 25 0.123203 0.0629 . . . . . . . . . intronic . 0.0127171 . . . . . . . . . Name\x3d95.988896 1 +14 76446886 TGFB3 G A 1 0.000199681 6.481e-05 . MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736 Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000071002|Promoter . . 0.0002 synonymous_SNV exonic . 0.0001035 . . . . . . 0.0238 0.124 0.0001 Name\x3d99.495395 6 +14 90863452 CALM1 G T 2 0.00519169 0.0021 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0032273 . . Name\x3dOREG1168103|N/A|TFAP2C|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.928977 3 +14 90863488 CALM1 C CA 2 0.000998403 0.0010 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0186 Name\x3d97.594244 1 +14 90863489 CALM1 G A,GCA 2 0.000998403 0.0008 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR . . . . . . Name\x3d97.594244 3 +14 90866346 CALM1 C T 121 0.484425 0.6183 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 0.117618 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.6245 . 0 +14 90866350 CALM1 T C 1 0.000199681 0.0004 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 1.29e-05 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0003 . 4 +14 90870167 CALM1 G A 2 0.000798722 0.0033 . . . . . . . 0.0037 . intronic . 0.0023868 . . . . . . . . 0.0043 . 0 +14 90870689 CALM1 A G 1 0.000199681 . . . . . . . . 1.877e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +14 90870740 CALM1 C T 1 0.000199681 0.0008 . MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0019 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d98.773995 1 +14 90870909 CALM1 T G 3 0.00159744 0.0058 . . . . . . . 0.0067 . intronic . 0.0039327 . . . . . . . . 0.0052 . 4 +15 35083378 ACTC1 A G 2 0.0285543 0.0037 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0036 synonymous_SNV exonic . 0.0097088 . . . . . . . . 0.0042 Name\x3d98.720799 1 +15 35083508 LOC101928174 TCACA T 65 0.244808 0.1316 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . . . ncRNA_intronic . 0.0006404 . . . . . . . . . . -2 +15 35084543 LOC101928174 A C 1 0.000199681 . . . . . Name\x3dENSR00000074836|Promoter . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 3 +15 35084562 LOC101928174 G A 1 0.000199681 6.482e-05 . . . . Name\x3dENSR00000074836|Promoter . . 7.361e-05 . ncRNA_intronic . 4.53e-05 . . . . . . . . 0.0001 . 3 +15 48703130 FBN1 T C 1 0.019369 0.0023 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . Name\x3dMIMAT0000086|hsa-miR-29a-3p|Experimental,MIMAT0000100|hsa-miR-29b-3p|Experimental,MIMAT0000681|hsa-miR-29c-3p|Experimental . . UTR3 . 0.001326 . . . . . . . . . Name\x3d99.538168 0 +15 48703579 FBN1 G A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Likely_benign . . . 3.681e-05 . intronic . 4.53e-05 . . . . . . 0.0004 0.046 0.0001 Name\x3d99.589402 3 +15 48712876 FBN1 T G 2 0.0491214 0.0080 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign . . . 0.0103 . intronic . 0.0254719 . . . . . . . . 0.0099 Name\x3d99.084991 -1 +15 48713959 FBN1 A T 1 0.0253594 0.0025 . . . . Name\x3dENSR00000515046|Enhancer . . . . intronic . 0.0015977 . . . . . . . . . Name\x3d97.310398 0 +15 48718045 FBN1 C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.790785 3 +15 48718098 FBN1 T C 1 0.000399361 . . . . . . . . 0.0001 . intronic . 9.7e-05 . . . . . . . . 0.0001 Name\x3d97.968503 3 +15 48718120 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.972348 3 +15 48719701 FBN1 G T 2 0.0489217 0.0080 . . . . . . . . . intronic . 0.0042496 . . . . . . . . . . -2 +15 48720526 FBN1 G C 169 0.65595 0.7602 . MedGen:CN169374 not_specified Benign . . . 0.7638 . intronic . 0.731129 . . . . . . . . 0.7771 Name\x3d97.687960 -1 +15 48720652 FBN1 C T 2 0.0509185 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign . . . 0.0146 synonymous_SNV exonic . 0.0285443 . . . . . . . . 0.0172 Name\x3d99.778812 -1 +15 48722884 FBN1 A G 2 0.0511182 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign . . . 0.0146 synonymous_SNV exonic . 0.0285507 . . . . . . . . 0.0172 Name\x3d99.680571 -1 +15 48722887 FBN1 A G 1 0.000199681 6.482e-05 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 5.523e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0002 Name\x3d99.680571 3 +15 48725121 FBN1 T G 2 0.000798722 0.0010 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0014 Name\x3d99.765798 1 +15 48725206 FBN1 T A 2 0.0507188 0.0135 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0146 . intronic . 0.0285313 . . . . . . . . 0.0172 Name\x3d98.551345 -1 +15 48726805 FBN1 A C 1 0.000199681 . 4.877 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.793973 3 +15 48729619 FBN1 T G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.683528 3 +15 48729648 FBN1 T C 200 0.930112 0.8595 . . . . . . . . . intronic . 0.173478 . . . . . . . . 0.8866 Name\x3d95.276548 -1 +15 48729950 FBN1 A G 1 0.000199681 . . . . . . . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.050638 3 +15 48736684 FBN1 A T 168 0.620807 0.7442 . . . . . . . . . intronic . 0.141279 . . . . . . . . . . -2 +15 48739082 FBN1 C A 2 0.0425319 0.0136 . . . . . . . . . intronic . 0.0047283 . . . . . . . . . Name\x3d95.058891 -1 +15 48740907 FBN1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.439025 3 +15 48740936 FBN1 G GA 2 0.0425319 0.0136 . MedGen:CN169374 not_specified Benign . . . 0.0157 . intronic . 0.0008085 . . . . . . . . 0.0177 . -2 +15 48744726 FBN1 G A 1 0.000599042 0.0003 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0008 . intronic . 0.0006209 . . . . . . . . 0.0003 Name\x3d97.107235 2 +15 48744908 FBN1 AAGG A 2 0.0405351 0.0082 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0104 . intronic . 0.0007762 . . . . . . . . 0.0102 Name\x3d98.568935,98.510825 0 +15 48748913 FBN1 C T 2 0.00259585 0.0093 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0068 synonymous_SNV exonic . 0.0051875 . . . . . . . . 0.0086 Name\x3d99.778744 1 +15 48755434 FBN1 A C 1 0.000199681 . 4.356 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.763430 6 +15 48755450 FBN1 T TA 2 0.0477236 0.0084 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign . . . 0.0104 . intronic . 0.0008538 . . . . . . . . 0.0103 Name\x3d97.977445 -1 +15 48755472 FBN1 G A 28 0.0467252 0.0926 . MedGen:CN169374 not_specified Benign . . . 0.0927 . intronic . 0.0682074 . . . . . . . . 0.0932 Name\x3d97.955257 0 +15 48756163 FBN1 G A 1 0.000199681 . . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001229 . . . . . . . . 0.0001 Name\x3d99.650673 3 +15 48756199 FBN1 A G 1 0.000199681 . . . . . . . . 5.554e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.705529 3 +15 48758132 FBN1 A C 36 0.207268 0.1505 . . . . . . . . . intronic . 0.030323 . . . . . . . . . . -1 +15 48760067 FBN1 G A 2 0.047524 0.0082 . . . . . . . . . intronic . 0.0042367 . . . . . . . . . Name\x3d96.051856 -1 +15 48760087 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.605088 3 +15 48760750 FBN1 T C 2 0.0405351 0.0082 . MedGen:CN169374 not_specified Benign . . . 0.0104 . intronic . 0.0233826 . . Name\x3dOREG1754562|N/A|IGF1R|PAZAR,OREG1755146|N/A|IGF1R|PAZAR . . . . . 0.0101 Name\x3d98.100079 0 +15 48760805 FBN1 C T 1 0.000199681 0.0037 . . . . . . . . . intronic . 0.0003428 . . . . . . . . . Name\x3d95.378979 1 +15 48763008 FBN1 A T 15 0.0682907 0.1406 . . . . . . . . . intronic . 0.0169144 . . . . . . . . . . -2 +15 48764709 FBN1 A T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.753779 3 +15 48764942 FBN1 A G 2 0.110024 0.0194 . . . . . . . . . intronic rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295 0.0099999 . . . . . . . . . . -2 +15 48766737 FBN1 T C 1 0.000199681 . 0.242 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1416737|N/A|E2F1|PAZAR,OREG1274672|N/A|SMARCA4|PAZAR . B T . . 0.0001 Name\x3d99.724406 5.5 +15 48779200 FBN1 AATAAC A 47 0.301318 0.2470 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +15 48779231 FBN1 GTAAAA ATAAAA,G 47 0.196685 0.1535 . MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign/Likely_benign . . . 0.1299 . intronic . 0.0082017 . . . . . . . . 0.1656 . -2 +15 48779402 FBN1 C T 16 0.196486 0.1556 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign . . . 0.1510 . intronic . 0.166641 . . . . . . . . 0.1390 Name\x3d98.442579 -1 +15 48779550 FBN1 G A 1 0.000399361 6.48e-05 7.283 Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006274 D . . . D D . . 0.0015 Name\x3d99.597762 7 +15 48779604 FBN1 A T 1 0.000199681 . 5.592 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.638421 9 +15 48779649 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.792642 3 +15 48780504 FBN1 TTAAAGA T 28 0.048722 0.0909 . . . . . . . . . intronic . 0.0137544 . . . . . . . . . Name\x3d96.629521 -1 +15 48780551 FBN1 G C 1 0.000199681 . . . . . . . . 5.52e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.750919 3 +15 48782072 FBN1 T C 3 0.000599042 0.0006 2.075 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004722 T . . . B D . . 0.0003 Name\x3d99.682927 5 +15 48782151 FBN1 G A 1 0.000199681 6.485e-05 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.638291 3 +15 48787360 FBN1 G A 1 0.000199681 0.0001 . . . . . . . 5.538e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.718617 3 +15 48787523 FBN1 T C 1 0.00299521 0.0001 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d95.606575 1 +15 48787842 FBN1 TA T 2 0.0197684 0.0023 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006 Marfan_syndrome Uncertain_significance . . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.169305 -1 +15 48788436 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.104239 3 +15 48789634 FBN1 T C 49 0.378594 0.2528 . MedGen:CN169374 not_specified Benign . . . 0.2643 . intronic . 0.276128 . . . . . . . . 0.2427 Name\x3d97.045016 -1 +15 48797146 FBN1 C T 6 0.0756789 0.0568 . . . . . . . . . intronic . 0.0100257 . . . . . . . . . . -1 +15 48797158 FBN1 T C 1 0.000199681 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.144336 3 +15 48797192 FBN1 C T 2 0.0221645 0.0023 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0025 . intronic . 0.0071733 . . . . . . . . 0.0026 . -2 +15 48797307 FBN1 A G 18 0.296925 0.1581 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1539 synonymous_SNV exonic . 0.195398 . . . . . . . . 0.1420 Name\x3d99.739965 -1 +15 48807637 FBN1 C T 214 1 1 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000092|hsa-miR-92a-3p|Experimental 1 nonsynonymous_SNV exonic . 0.938235 . . . . . . . . . Name\x3d99.659792 1.5 +15 48818303 FBN1 C A 1 0.000199681 0.0003 . . . . . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0002 . 2 +15 48826356 FBN1 A G 1 0.000599042 0.0012 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0008538 . . . . . . . . 0.0008 Name\x3d99.718571 1 +15 48826428 FBN1 A G 1 0.00579073 . . . . . . . . . . intronic . 0.0088032 . . . . . . . . . Name\x3d99.078443 1 +15 48888508 FBN1 G A 1 0.000399361 0.0025 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0006404 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0012 Name\x3d99.698052 2 +15 48888610 FBN1 T C 11 0.0151757 0.0194 . . . . . . . 0.0218 . intronic . 0.0164746 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0235 Name\x3d98.871569 0 +15 48892427 FBN1 T A 1 0.000199681 . 4.225 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.646845 6 +15 48892504 FBN1 T C 1 0.00439297 0.0089 . . . . . . . . . intronic . 0.0015136 . . . . . . . . . Name\x3d97.646387 1 +15 48902965 FBN1 G A 1 0.000798722 0.0038 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0009782|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ectopia_lentis|Connective_tissue_disorder|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0040232 . . . . . . . . 0.0070 Name\x3d99.720767 1 +15 63335907 TPM1 C G 1 0.00419329 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000077719|Promoter . . 0.0038 synonymous_SNV exonic . 0.0008215 . . . . . . . . . Name\x3d99.896019 4 +15 63335910 TPM1 G A 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000077719|Promoter . . 0.0012 synonymous_SNV exonic . 0.0001552 . . . . . . . . . Name\x3d99.896019 4 +15 63336099 TPM1 C G 17 0.028754 0.0799 . . . . Name\x3dENSR00000077719|Promoter . . . . intronic . 0.0668895 . . . . . . . . . Name\x3d99.921063 2 +15 63340705 LOC100128979 C T 16 0.210863 0.1184 . . . . Name\x3dENSR00000077719|Promoter . . 0.2085 . ncRNA_exonic . 0.0403552 . . Name\x3dOREG1725385|N/A|HNF4A|PAZAR,OREG1271416|N/A|SMARCA4|PAZAR,OREG1676422|N/A|GATA2|PAZAR,OREG1852947|N/A|RB1|PAZAR,OREG1902832|N/A|STAT1|PAZAR,OREG1190035|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.912126 1 +15 63349132 TPM1 T A 30 0.126198 0.1325 . . . . . . . . . intronic . 0.0246827 . . . . . . . . 0.1316 Name\x3d98.389911 1 +15 63351687 TPM1 A G 160 0.861422 0.8018 . . . . . . . . . intronic . 0.161246 . . . . . . . . . Name\x3d98.656370 1 +15 63351736 TPM1 G A 1 0.00119808 0.0001 . . . . . . . 0.0004 . intronic . 0.0006274 . . . . . . . . 0.0007 Name\x3d99.215568 3 +15 63351840 TPM1 C A 130 0.705671 0.6539 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.6555 synonymous_SNV exonic . 0.669267 . . . . . . . . 0.6458 Name\x3d99.739207 1 +15 63351873 TPM1 T C 15 0.0241613 0.0706 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0779 synonymous_SNV exonic . 0.0524314 . . . . . . . . 0.0713 Name\x3d99.803976 1 +15 63353451 TPM1 A G 2 0.00259585 0.0005 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000993718|Enhancer . . 0.0006 synonymous_SNV exonic . 0.0010673 . . . . . . . . 0.0005 Name\x3d99.871204 4 +15 63353565 TPM1 A G 1 0.000199681 . . . . . Name\x3dENSR00000993718|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.832509 6 +15 63354009 TPM1 G C 4 0.00898562 0.0120 . . . . Name\x3dENSR00000993718|Enhancer . . 0.0139 . intronic . 0.0119727 . . . . . . . . 0.0128 Name\x3d99.525360 2 +15 63356184 TPM1 C T 1 0.000798722 0.0001 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.603191 4 +15 63356237 TPM1 C T 3 0.000599042 0.0003 . . . . . . . 0.0005 . intronic . 0.0003105 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.839659 8 +15 63358033 TPM1 T C 1 0.0151757 0.0017 . . . . . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental . . intronic . 0.0042646 . . . . . . . . . . 1 +15 63362256 TPM1 A G 1 0.000599042 0.0006 . . . . Name\x3dENSR00000993720|Enhancer . . . . UTR3 . 0.000194 . . . . . . . . . Name\x3d98.998416 4 +15 63363401 TPM1 C CATTTT,CATTTTGTTTT 1 0.127396 0.5105 . . . . . . . 0.5274 . UTR3 . 0.0115328 . . . . . . . . . Name\x3d98.277992 1 +15 63363402 TPM1 G A 72 0.372005 0.0097 . MedGen:CN169374 not_specified Benign . . . 0.0074 . UTR3 . 0.0122185 . . . . . . . . . Name\x3d98.277992 1 +15 66679649 MAP2K1 T TC 19 0.147165 0.0757 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00000078166|Promoter . . 0.1089 . UTR5 . 0.0004851 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . 0.0874 Name\x3d99.371543 1 +15 66679798 MAP2K1 C G 2 0.00758786 0.0252 . . . . Name\x3dENSR00000078166|Promoter . . 0.0159 . intronic . 0.0048835 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . 0.0140 Name\x3d99.844827 1 +15 66679819 MAP2K1 G C 21 0.0361422 0.0862 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0581681 . . Name\x3dOREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1231486|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.893784 3 +15 66679850 MAP2K1 TG T 21 0.0361422 0.0864 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0107961 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . . Name\x3d99.859840 1 +15 66679867 MAP2K1 C T 1 0.000199681 . . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.861026 5 +15 66727597 MAP2K1 G C 69 0.270767 0.3215 . MedGen:CN169374 not_specified Benign . . . 0.3226 . intronic . 0.310293 . . . . . . . . 0.3353 Name\x3d97.091206 0 +15 66729250 MAP2K1 C T 6 0.0191693 0.0200 . MedGen:CN169374 not_specified Benign . . . 0.0283 . intronic . 0.0263386 . . . . . . . . 0.0236 . -2 +15 66735551 MAP2K1 C T 193 0.855232 0.9127 . . . . . . . . . intronic . 0.177346 . . . . . . . . . Name\x3d96.869498 1 +15 66736922 MAP2K1 G A 2 0.000998403 0.0045 . . . . . . . . . intronic . 0.0004851 . . . . . . . . . Name\x3d98.245217 1 +15 66777345 MAP2K1 G A 2 0.00539137 0.0182 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 0.0165 synonymous_SNV exonic . 0.0113582 . . . . . . . . 0.0207 Name\x3d99.772167 -1 +15 66779537 MAP2K1 A C 1 0.000199681 6.482e-05 . . . . . . . 0.0001 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.552630 3 +15 66779698 MAP2K1 C T 17 0.0900559 0.0903 . . . . . . . . . intronic . 0.0164746 . . . . . . . . 0.0893 . -1 +15 66782048 MAP2K1 C T 17 0.0892572 0.0899 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign . . . 0.0860 . intronic . 0.0828838 . . . . . . 0.0003 0.008 0.0854 Name\x3d99.701726 0 +15 66782108 SNAPC5 CTATT C 1 0.00119808 0.0029 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign . . . 0.0031 . UTR3 . 0.0018434 . . . . . . . . 0.0029 Name\x3d98.356641,99.640818 1 +15 73614834 HCN4 T C 202 0.859625 0.9396 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.9273 synonymous_SNV exonic . 0.88158 . . . . . . . . 0.9344 Name\x3d99.917057 -1 +15 73614974 HCN4 G A 1 0.000199681 0.0001 4.878 . . . . . . . nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.885622 6 +15 73615084 HCN4 G A 1 0.000599042 0.0030 3.325 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0065 nonsynonymous_SNV exonic . 0.0013519 D . . . B D . . 0.0009 Name\x3d99.866784 4 +15 73615097 HCN4 T C 5 0.0081869 0.0119 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0322 nonsynonymous_SNV exonic . 0.008247 T . . . B T . . 0.0126 Name\x3d99.847514 0.5 +15 73615146 HCN4 G A 1 0.0071885 0.0003 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0025 synonymous_SNV exonic . 0.0016106 . . . . . . . . 0.0004 Name\x3d99.872069 1 +15 73615531 HCN4 G A 2 0.000399361 . 1.536 MedGen:CN169374 not_specified Uncertain_significance . . . 7.257e-05 nonsynonymous_SNV exonic . 5.82e-05 D . . . B T . . . Name\x3d99.616832 3 +15 73615786 HCN4 G C 2 0.00339457 0.0121 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0115 nonsynonymous_SNV exonic . 0.0077554 T . . . B D . . 0.0132 Name\x3d99.668182 -1 +15 73615878 HCN4 C T 8 0.0275559 0.0483 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0471 synonymous_SNV exonic . 0.0447148 . . . . . . . . 0.0488 Name\x3d99.712799 -1 +15 73615940 HCN4 G A 1 0.000199681 . . . . . . . . 3.76e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.611743 3 +15 73616252 HCN4 C T 1 0.000199681 . 3.312 MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 D . . . D D . . . Name\x3d99.919174 6 +15 73616635 HCN4 T C 202 0.772963 0.9348 . MedGen:CN169374 not_specified Benign . . . 0.9241 . intronic . 0.0002458 . . . . . . . . 0.9314 . -2 +15 73617239 HCN4 C T 2 0.00379393 0.0131 . . . . . . . . . intronic . 0.0020634 . . . . . . . . . Name\x3d97.538347 -1 +15 73617250 HCN4 C T 4 0.00778754 0.0218 . . . . . . . 0.0216 . intronic . 0.0146052 . . . . . . . . 0.0216 . -2 +15 73617804 HCN4 G T 2 0.00339457 0.0119 . MedGen:CN169374 not_specified Benign . . . 0.0096 . intronic . 0.0071539 . . . . . . . . 0.0145 Name\x3d98.527667 -1 +15 73617851 HCN4 C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +15 73621933 HCN4 C T 1 0.000199681 . 6.335 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.938418 9 +15 73621946 HCN4 G A 21 0.053115 0.1063 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0928 synonymous_SNV exonic . 0.0839058 . . . . . . . . 0.0910 Name\x3d99.933404 -1 +15 73622049 HCN4 C T 1 0.000199681 0.0001 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 3.683e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.925392 3 +15 73622061 HCN4 G A 1 0.000199681 . . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Benign/Likely_benign . . . 3.71e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.905001 3 +15 73624463 HCN4 C T 1 0.000599042 6.482e-05 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome_8|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 1.842e-05 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.371777 1 +15 73660154 HCN4 T C 1 0.000199681 0.0018 0.242 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000520949|Promoter . . . nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B T . . . Name\x3d99.942508 4.5 +15 73660505 HCN4 C T 24 0.0249601 0.0593 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.1281 nonsynonymous_SNV exonic . 0.0002717 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B D . . 0.0508 Name\x3d99.766523 1 +15 73660576 HCN4 G C 2 0.00359425 0.0063 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.0087 synonymous_SNV exonic . 0.0027684 . . Name\x3dOREG1506778|N/A|EGR1|PAZAR . . . . . 0.0047 Name\x3d99.852221 3 +16 30913382 CTF1 C T 1 0.000599042 . . . . . . . . . . intronic . 3.88e-05 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.437069 4 +16 30913405 CTF1 C T 1 0.000199681 . 2.493 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1226096|N/A|SMARCA4|PAZAR,OREG1256361|N/A|SMARCA4|PAZAR . B T . . . Name\x3d97.573393 7.5 +16 30913845 CTF1 C G 1 0.00119808 0.0016 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0087 synonymous_SNV exonic . 0.0008797 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR,OREG0075153|N/A|TFAP2A|JASPAR,OREG1174768|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.544957 4 +17 8192158 RANGRF C T 1 0.000599042 0.0005 1.830 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance Name\x3dENSR00000548740|Promoter . . 0.0008 nonsynonymous_SNV exonic . 0.0005498 T . Name\x3dOREG1792302|N/A|RBL2|PAZAR,OREG1806025|N/A|RBL2|PAZAR . B T . . 0.0013 Name\x3d95.632641 4.5 +17 8192922 na C T 11 0.141573 0.0430 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000548740|Promoter . . 0.0426 . UTR3 . 0.0920816 . . . . . . . . 0.0433 . -1 +17 8192970 RANGRF G A 2 0.00778754 0.0187 . . . . Name\x3dENSR00000548740|Promoter . . 0.0194 . UTR3 . 0.0131952 . . . . . . 0.0002 0.036 0.0197 . -1 +17 8192987 RANGRF C A 1 0.000199681 . . . . . Name\x3dENSR00000548740|Promoter . . 1.867e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 3 +17 37821770 TCAP C T 3 0.0301518 0.0545 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000093970|Promoter . . 0.0537 . intronic . 0.041112 . . . . . . . . 0.0561 Name\x3d98.546347 2 +17 37821927 TCAP G C 4 0.00379393 0.0020 . . . . Name\x3dENSR00000093970|Promoter . . 0.0039 . intronic . 0.0029495 . . . . . . . . 0.0029 Name\x3d98.386216 8 +17 37822174 TCAP C T 2 0.00838658 0.0039 6.733 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C4225408,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000093970|Promoter . Name\x3dMIMAT0004804|hsa-miR-615-5p|Experimental,MIMAT0019737|hsa-miR-4664-5p|Experimental,MIMAT0004694|hsa-miR-342-5p|Experimental 0.0039 nonsynonymous_SNV exonic . 0.0168885 D . Name\x3dOREG1492801|N/A|EGR1|PAZAR . D D . . 0.0042 Name\x3d99.323358 10 +17 37822311 TCAP A C 149 0.54972 0.7039 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign Name\x3dENSR00000093970|Promoter . . 0.7260 synonymous_SNV exonic . 0.66428 . . Name\x3dOREG1492801|N/A|EGR1|PAZAR . . . . . 0.7122 Name\x3d99.114223 5 +17 39911975 JUP G T 1 0.00159744 0.0026 . MedGen:CN169374 not_specified Benign . . . 0.0029 . UTR3 . 0.0029042 . . . . . . 0.0001 0.018 0.0035 Name\x3d96.265799 3 +17 39912145 JUP T A 155 0.58726 0.7420 1.242 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7257 nonsynonymous_SNV exonic . 0.657482 T . . . B T . . 0.7391 Name\x3d99.303397 2.5 +17 39912581 JUP A G 160 0.636581 0.7696 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +17 39912590 JUP G A 3 0.000798722 0.0015 . . . . . . . . . intronic . 0.00146 . . . . . . . . . . 6 +17 39913645 JUP T C 155 0.717252 0.7529 . MedGen:CN169374 not_specified Benign . . . 0.7367 . intronic . 0.705741 . . . . . . . . 0.7456 . 0 +17 39913826 JUP G A 1 0.00279553 0.0004 . . . . . . . 0.0007 . intronic . 0.0012742 . . . . . . . . 0.0001 . 2 +17 39914070 JUP G T 155 0.638978 0.7493 . MedGen:CN169374 not_specified Benign . . . 0.7328 . intronic . 0.662385 . . . . . . . . 0.7430 . 0 +17 39915057 JUP T C 1 0.00239617 0.0112 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0046118 . . . . . . . . 0.0042 Name\x3d99.242843 1 +17 39919367 JUP G A 1 0.00119808 6.483e-05 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0004269 . . . . . . . . . Name\x3d98.788548 3 +17 39923614 JUP A G 177 0.744209 0.8138 . MedGen:CN169374 not_specified Benign . . . 0.8079 . intronic . 0.740928 . . . . . . . . 0.8084 . 0 +17 39925713 JUP C T 14 0.0239617 0.0675 7.586 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0620 nonsynonymous_SNV exonic rs41283425|Balding-type-1||8E-10|PMID:30595370 0.0426062 T . . . D D . . 0.0581 Name\x3d99.062306 4 +17 39925925 JUP A G 174 0.715655 0.7559 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7592 synonymous_SNV exonic . 0.691272 . . . . . . . . 0.7552 Name\x3d99.243610 1 +17 48243312 SGCA C A 4 0.00459265 0.0114 . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0015653 . . . . . . . . . Name\x3d99.622953 2 +17 48243323 SGCA C T 1 0.00139776 . . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0003074 . . . . . . . . . Name\x3d98.510978 4 +17 48243461 SGCA G A 12 0.0283546 0.0706 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000095614|Promoter . . 0.0692 . intronic . 0.0529941 . . . . . . . . 0.0627 Name\x3d99.541115 2 +17 48243504 SGCA C T 214 0.988618 0.9997 . . . . Name\x3dENSR00000095614|Promoter . . 0.9998 . intronic . 0.944212 . . . . . . 0.0002 . 0.9997 Name\x3d95.967132 2 +17 48244683 SGCA G C 3 0.0081869 0.0089 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000095614|Promoter . . 0.0084 . intronic . 0.0088615 . . Name\x3dOREG1505010|N/A|EGR1|PAZAR . . . . . 0.0067 Name\x3d99.114083 9 +17 48244932 SGCA G A 1 0.00159744 0.0014 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 . intronic . 0.0013713 . . . . . . 0.0001 . 0.0014 Name\x3d99.298689 3 +17 48245269 SGCA C A 19 0.122404 0.1498 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.1396 . intronic . 0.139222 . . . . . . . . 0.1379 Name\x3d95.568663 2 +17 48245324 SGCA G A 1 0.000798722 0.0001 6.470 MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.0011 nonsynonymous_SNV exonic . 0.0008861 D . . . D D . . 0.0005 Name\x3d99.886478 10 +17 48245770 SGCA C A 1 0.00139776 0.0004 2.670 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0021 nonsynonymous_SNV exonic . 0.0005563 D . . . P T . . 0.0007 Name\x3d99.891253 3 +17 48247689 SGCA C T 7 0.0786741 0.0399 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Benign/Likely_benign . . . 0.0370 synonymous_SNV exonic . 0.0452517 . . . . . . . . 0.0416 Name\x3d99.783359 1 +17 48247996 SGCA C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.008 . Name\x3d99.668316 5 +17 48248083 SGCA C A 1 0.00179712 0.0151 . . . . . . . . . intronic . 0.0018442 . . . . . . . . 0.0057 . 0 +17 48252804 SGCA T C 207 0.921925 0.9597 . MedGen:CN169374 not_specified Benign . . . 0.9630 . UTR3 . 0.934264 . . . . . . . . 0.9589 Name\x3d99.248115 1 +17 68172326 KCNJ2 C T 24 0.153954 0.1121 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype Benign . . . 0.1167 synonymous_SNV exonic . 0.128841 . . . . . . . . 0.1186 Name\x3d99.932274 1 +17 78078341 GAA T G 1 0.00279553 0.0053 . Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C4016981|MedGen:CN517202 Muscular_Diseases|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|Glycogen_storage_disease_II,_adult_form|not_provided Pathogenic . . . 0.0049 . intronic . 0.0035316 . . . . . . . . 0.0057 Name\x3d98.906401 1 +17 78078656 GAA G A 1 0.0115815 0.0348 4.921 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided Benign/Likely_benign,_other . . . 0.0309 nonsynonymous_SNV exonic . 0.0213969 T . . . D T . . 0.0315 Name\x3d99.767635 -1 +17 78078709 GAA T C 166 0.714457 0.7537 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7670 synonymous_SNV exonic . 0.0031112 . . . . . . . . 0.7490 Name\x3d99.591056 0 +17 78078832 GAA G A 1 0.00958466 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0041 synonymous_SNV exonic . 0.0050129 . . Name\x3dOREG0405492|N/A|ESR2|JASPAR . . . . . 0.0038 Name\x3d99.651471 2 +17 78079481 GAA C G 165 0.602436 0.7403 . . . . . . . . . intronic . 0.131945 . . . . . . . . . . -1 +17 78079509 GAA T G 165 0.605631 0.7396 . MedGen:CN169374 not_specified Benign . . . 0.7462 . intronic . 0.664513 . . . . . . . . 0.7352 Name\x3d96.713393 -1 +17 78079544 GAA C G 165 0.602835 0.7403 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.664603 . . . . . . . . 0.7384 Name\x3d99.486055 0 +17 78079597 GAA A G 165 0.600839 0.7401 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 nonsynonymous_SNV exonic . 0.670573 T . . . B T . . 0.7383 Name\x3d99.528089 1.5 +17 78079643 GAA C T 52 0.10603 0.2145 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.2309 synonymous_SNV exonic . 0.178484 . . . . . . . . 0.22 Name\x3d99.623896 -1 +17 78079669 GAA G A 165 0.602436 0.7399 1.133 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.7474 nonsynonymous_SNV exonic . 0.667863 T . . . B T . . 0.7381 Name\x3d99.557421 1.5 +17 78081307 GAA C T 20 0.0870607 0.0702 . MedGen:CN169374 not_specified Benign . . . 0.0651 . intronic . 0.0680328 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 . -1 +17 78081515 GAA G A 4 0.00239617 0.0093 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0105 synonymous_SNV exonic . 0.0066881 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0120 Name\x3d99.375628 0 +17 78081526 GAA AGCGGCGG AGCAGCGGGCGGCGG 164 0.592851 0.7305 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7455 . intronic . 0.0061254 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d98.919469 0 +17 78081551 GAA T C 164 0.601038 0.7302 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.586629 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7315 Name\x3d97.040998 0 +17 78081655 GAA G A 1 0.000399361 0.0016 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0010543 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0015 Name\x3d99.505217 2 +17 78081661 GAA A T 20 0.110224 0.0702 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0680 synonymous_SNV exonic . 0.0723212 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 Name\x3d99.695166 0 +17 78081707 GAA G A 165 0.604433 0.7398 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7979 . intronic . 0.6232 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7545 Name\x3d97.689936 0 +17 78081786 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d95.352252 4 +17 78082221 GAA C T 2 0.00519169 0.0139 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0150 . intronic . 0.0107631 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0166 Name\x3d99.017227 0 +17 78082504 GAA G A 164 0.602835 0.7394 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7487 synonymous_SNV exonic . 0.668859 . . . . . . . . 0.7380 Name\x3d99.416633 -1 +17 78083726 GAA A G 165 0.711661 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7638 . intronic . 0.720638 . . Name\x3dOREG1940686|N/A|TP53|PAZAR . . . . . 0.7486 Name\x3d98.719453 1 +17 78083791 GAA C T 20 0.0982428 0.0701 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0654 synonymous_SNV exonic . 0.0713251 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0715 Name\x3d99.727705 0 +17 78084459 GAA T C 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . . Name\x3d96.923924 4 +17 78084507 GAA G C 164 0.603035 0.7392 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.661958 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7379 Name\x3d98.704587 0 +17 78084688 GAA C A 164 0.599241 0.7392 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.661828 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7380 Name\x3d99.468177 1 +17 78084727 GAA G A 1 0.00279553 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0040 . intronic . 0.0028913 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0040 Name\x3d99.076528 2 +17 78084769 GAA G A 59 0.159545 0.2710 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.2746 synonymous_SNV exonic . 0.232131 . . . . . . . . 0.2816 Name\x3d99.582472 1 +17 78084887 GAA G A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d96.953601 3 +17 78085710 GAA T G 1 0.00339457 . . . . . . . . . . intronic . 0.0006531 . . . . . . . . . Name\x3d97.193653 1 +17 78085911 GAA G A 5 0.063099 0.0660 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0621 . intronic . 0.0576707 . . . . . . . . 0.0628 Name\x3d98.074921 -1 +17 78086531 GAA G A 9 0.0778754 0.0471 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0557 . intronic . 0.0001811 . . . . . . . . 0.0313 Name\x3d96.553209 -1 +17 78086846 GAA A G 166 0.715056 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7731 . intronic . 0.67818 . . . . . . . . 0.7513 Name\x3d98.071406 0 +17 78086869 GAA A C 4 0.0463259 . . . . . . . . 4.308e-05 . intronic . 0.0015588 . . . . . . . . . Name\x3d97.662183 -1 +17 78086892 GAA C T 6 0.0638978 0.0701 . . . . . . . . . intronic . 0.058975 . . . . . . . . . Name\x3d98.195822 -1 +17 78086895 GAA A G 6 0.0621006 0.0704 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Benign . . . . . intronic . 0.0567466 . . . . . . . . . Name\x3d98.195822 -1 +17 78086953 GAA G A 67 0.228035 0.3130 . . . . . . . . . intronic . 0.265868 . . . . . . . . . Name\x3d98.287196 -1 +17 78087041 GAA G A 9 0.0780751 0.0473 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified|not_provided Conflicting_interpretations_of_pathogenicity,_other . . . 0.0714 nonsynonymous_SNV exonic . 0.0494172 T . . . B T . . 0.0348 Name\x3d99.667593 0.5 +17 78087109 GAA A G 71 0.241613 0.2965 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.3797 synonymous_SNV exonic . 0.244932 . . . . . . . . 0.2793 Name\x3d99.724578 -1 +17 78090928 GAA G A 166 0.789337 0.7549 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7679 . intronic . 0.73446 . . . . . . . . 0.7530 Name\x3d97.377457 0 +17 78090932 GAA T C 14 0.207069 0.1240 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1188 . intronic . 0.146719 . . . . . . . . 0.1056 . -2 +17 78091359 GAA C G 2 0.00259585 0.0068 . . . . . . . 0.0070 . intronic . 0.0055433 . . . . . . . . 0.0060 Name\x3d97.061299 1 +17 78091405 GAA G A 165 0.711861 0.7531 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7655 nonsynonymous_SNV exonic . 0.720676 T . . . B T . . 0.7499 Name\x3d99.422464 1.5 +17 78091929 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 9.06e-05 . . . . . . . . . Name\x3d97.729624 3 +17 78092063 GAA G A 151 0.509385 0.6282 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.6470 synonymous_SNV exonic . 0.574527 . . . . . . . . 0.6427 Name\x3d99.688943 1 +17 78092195 GAA G A 1 0.00199681 0.0080 . MedGen:CN517202 not_provided Likely_benign . . . 0.0048 . intronic . 0.0033699 . . . . . . . . 0.0045 Name\x3d96.359759 1 +17 78092211 GAA G T 2 0.00219649 0.0077 . MedGen:CN517202 not_provided Likely_benign . . . . . intronic . 0.0014101 . . . . . . . . . Name\x3d96.412140 1 +17 78093011 GAA G A 1 0.0145767 0.0056 . . . . . . . . . intronic . 0.0028137 . . . . . . . . 0.0057 Name\x3d96.270375 -1 +17 78093221 GAA G A 22 0.120008 0.0776 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Likely_benign . . . . . UTR3 . 0.0159248 . . . . . . . . . . -1 +18 3067195 MYOM1 C T 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . . 2 +18 3067278 MYOM1 A G 97 0.594449 0.4698 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5434 synonymous_SNV exonic . 0.486417 . . . . . . . . 0.4664 . -2 +18 3067599 MYOM1 A G 26 0.0694888 0.0750 . . . . . . . 0.0808 . intronic . 0.0701737 . . . . . . . . 0.0816 . -2 +18 3075503 MYOM1 C CAAA 212 0.992612 0.9925 . . . . . . . 0.9945 . intronic . 0.0978771 . . . . . . . . 0.9933 . -2 +18 3075504 MYOM1 G A 1 0.00339457 . . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 0 +18 3075554 MYOM1 T C 21 0.193291 0.1270 . . . . . . . . . intronic . 0.030226 . . . . . . . . 0.1216 . -2 +18 3075712 MYOM1 C A 98 0.622804 0.4633 . MedGen:CN169374 not_specified Benign . . . 0.5032 . intronic . 0.484994 . . . . . . . . 0.4632 . -2 +18 3075746 MYOM1 G A 31 0.183506 0.1955 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2221 synonymous_SNV exonic . 0.157812 . . . . . . . . 0.1697 Name\x3d96.460710 -1 +18 3075778 MYOM1 A C 31 0.183506 0.1957 . . . . . . . 0.2104 . intronic . 0.132586 . . . . . . . . 0.1614 . -2 +18 3075872 MYOM1 C G 31 0.174121 0.1953 . . . . . . . . . intronic . 0.168396 . . . . . . . . . . -2 +18 3083922 MYOM1 A C 4 0.00279553 0.0031 . . . . . . . 0.0106 . intronic . 0.0026649 . . . . . . . . 0.0044 . -2 +18 3084152 MYOM1 C T 200 0.863019 0.9300 . . . . . . . . . intronic . 0.900607 . . . . . . . . . . -2 +18 3085165 MYOM1 C T 2 0.000399361 6.656e-05 . . . . . . . 0.0002 . intronic . 9.7e-05 . . . . . . . . . . 2 +18 3086065 MYOM1 C T 10 0.0521166 0.0806 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0794 nonsynonymous_SNV exonic . 0.0722306 T . . . D T . . 0.0716 Name\x3d95.549078 2 +18 3089123 MYOM1 CTATTT C 10 0.0696885 0.0804 . . . . . . . 0.0849 . intronic . 0.0022574 . . . . . . . . 0.0724 . -2 +18 3089522 MYOM1 G T 173 0.800319 0.8161 . MedGen:CN169374 not_specified Benign . . . 0.8034 . intronic . 0.0032535 . . . . . . . . 0.7970 . -2 +18 3089677 MYOM1 A G 3 0.00279553 0.0068 . . . . . . . . . intronic . 0.000925 . . . . . . . . . . 4 +18 3090661 MYOM1 C T 1 0.000199681 . 6.060 . . . . . . 3.682e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D T . . . Name\x3d97.503262 6 +18 3094131 MYOM1 A G 13 0.01877 0.0181 . . . . . . . 0.0201 . intronic . 0.0216039 . . . . . . . . 0.0215 . -2 +18 3100051 MYOM1 T C 205 0.913339 0.9178 . . . . . . . . . intronic . 0.0335024 . . . . . . . . . . -2 +18 3100429 MYOM1 G A 109 0.348043 0.4369 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4727 . intronic . 0.407026 . . Name\x3dOREG1519899|N/A|EGR1|PAZAR . . . . . 0.4470 . -1 +18 3102499 MYOM1 C T 1 0.000399361 0.0002 6.258 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002329 D . . . D D . . 0.0005 . 6 +18 3102674 MYOM1 A G 1 0.000199681 6.48e-05 . . . . . . . 7.446e-05 . intronic . 5.82e-05 . . . . . . . . . . 2 +18 3112230 MYOM1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 3112231 MYOM1 G C 135 0.596046 0.5835 . . . . . . . . . intronic . 0.117793 . . . . . . . . . . -2 +18 3112252 MYOM1 C A 39 0.0810703 0.1792 . . . . . . . 0.1865 . intronic . 0.135807 . . . . . . . . 0.1805 . -2 +18 3120060 MYOM1 G A 178 0.852436 0.7970 . . . . . . . . . intronic . 0.808552 . . Name\x3dOREG1684796|N/A|GATA3|PAZAR,OREG1628683|N/A|FOS|PAZAR . . . . . . . -1 +18 3126632 MYOM1 C T 146 0.813698 0.6995 . . . . . . . . . intronic . 0.140567 . . Name\x3dOREG1107687|N/A|TP63|JASPAR . . . . . . . -1 +18 3126811 MYOM1 A G 32 0.254393 0.1416 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1533 nonsynonymous_SNV exonic . 0.184202 T . . . B T . . 0.1415 . -0.5 +18 3129535 MYOM1 C T 3 0.00199681 0.0040 . . . . Name\x3dENSR00000567718|Promoter . . 0.0052 . intronic . 0.0030983 . . Name\x3dOREG1278593|N/A|SMARCA4|PAZAR,OREG1246787|N/A|SMARCA4|PAZAR . . . . . 0.0042 Name\x3d97.658426 7 +18 3134610 MYOM1 A G 34 0.238019 0.1491 . . . . . . . 0.1591 . intronic . 0.180418 . . . . . . . . 0.1403 . -2 +18 3134826 MYOM1 A C 3 0.00599042 0.0152 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0141 . intronic . 0.0103362 . . . . . . . 0.002 0.0136 . -2 +18 3135644 MYOM1 C T 1 0.00239617 0.0126 7.909 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0062 nonsynonymous_SNV exonic . 0.0052457 T . . . D T . . 0.0039 . 1 +18 3142040 MYOM1 G A 2 0.000399361 . 7.299 . . . . . . 3.692e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d95.579271 9 +18 3164385 MYOM1 C T 54 0.16873 0.1897 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2444 synonymous_SNV exonic . 0.182617 . . . . . . . . 0.2072 . -2 +18 3168816 MYOM1 G A 45 0.282149 0.2756 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2619 synonymous_SNV exonic . 0.258082 . . . . . . 0.0006 0.042 0.2648 . -2 +18 3173873 MYOM1 G A 60 0.315895 0.3229 . . . . . . . . . intronic . 0.0601674 . . . . . . . . 0.3240 . -2 +18 3173964 MYOM1 G A 60 0.316094 0.3235 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3110 synonymous_SNV exonic . 0.29834 . . . . . . . . 0.3157 . -2 +18 3174018 MYOM1 C T 40 0.192292 0.2670 . . . . . . . 0.2474 . intronic . 0.221084 . . . . . . . . 0.2582 . -2 +18 3174056 MYOM1 C A 60 0.315695 0.3220 . . . . . . . . . intronic . 0.0595529 . . . . . . . . 0.3240 . -2 +18 3174064 MYOM1 G T 40 0.191893 0.2671 . . . . . . . . . intronic . 0.0391198 . . . . . . . . 0.2652 . -2 +18 3174076 MYOM1 A AAC 40 0.233427 0.2683 . . . . . . . 0.2491 . intronic . 0.0141913 . . . . . . . . 0.2591 . -2 +18 3174084 MYOM1 C CAT 20 0.0810703 0.0548 . . . . . . . 0.0617 . intronic . 0.0020051 . . . . . . . . 0.0564 . -2 +18 3174238 MYOM1 G A 7 0.00958466 0.0248 . . . . . . . 0.0321 . intronic . 0.0211834 . . . . . . . . 0.0269 . -2 +18 3176017 MYOM1 C T 39 0.191693 0.2668 . . . . . . . 0.2505 . intronic . 0.212591 . . . . . . . . 0.2556 . -2 +18 3176040 MYOM1 C G 138 0.757188 0.7317 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.7034 nonsynonymous_SNV exonic . 0.72391 T . . . B T 0.9992 0.75 0.7156 . 0.5 +18 3176063 MYOM1 C T 59 0.273163 0.3222 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3062 synonymous_SNV exonic . 0.282008 . . . . . . . . 0.3116 Name\x3d95.189371 -1 +18 3176190 MYOM1 A AACACACACAT 20 0.0808706 . . . . . . . . . . intronic . 0.0155602 . . . . . . . . . . -2 +18 3188715 MYOM1 T C 16 0.0898562 0.0465 . . . . . . . 0.0944 . intronic . 0.0493655 . . . . . . . . 0.0573 . -2 +18 3188778 MYOM1 C T 2 0.00219649 0.0051 5.491 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0060 nonsynonymous_SNV exonic . 0.0040103 T . . . P D . . 0.0056 . 3 +18 3188857 MYOM1 A G 16 0.0894569 0.0466 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0574 synonymous_SNV exonic . 0.0124901 . . . . . . . . 0.0589 . -2 +18 3188873 MYOM1 G A 16 0.0716853 0.0463 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0571 nonsynonymous_SNV exonic . 0.055562 T . . . B T . . 0.0586 . -0.5 +18 3188927 MYOM1 G A 2 0.00379393 0.0005 -0.419 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0021669 T . . . P T . . 0.0008 . 1.5 +18 3188976 MYOM1 A G 67 0.443291 0.4435 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4159 nonsynonymous_SNV exonic . 0.429069 T . . . D T . . 0.4153 . -2 +18 3214918 MYOM1 G C 34 0.286142 0.2878 . MedGen:CN169374 not_specified Benign . . . 0.2858 . intronic . 0.264169 . . . . . . . . 0.2615 . -2 +18 3215004 MYOM1 G A 1 0.000199681 . 1.311 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . P D . . . . 2 +18 3215030 MYOM1 C A 9 0.0730831 0.0661 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0653 synonymous_SNV exonic . 0.063311 . . . . . . . . 0.0565 . -2 +18 3215083 MYOM1 T C 1 0.00259585 0.0125 2.576 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0045924 T . . . B D . . 0.0025 Name\x3d95.661735 -1 +18 3215131 MYOM1 G T 2 0.013778 0.0169 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0174 synonymous_SNV exonic . 0.0162676 . . . . . . . . 0.0127 Name\x3d95.172521 -1 +18 3215156 MYOM1 C G 11 0.128994 0.0948 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0988 synonymous_SNV exonic . 0.0951669 . . . . . . . . 0.0858 . -2 +18 3215158 MYOM1 C G 11 0.127995 0.0948 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0993 nonsynonymous_SNV exonic . 0.0956003 T . . . B T . . 0.0859 . -0.5 +18 3215230 MYOM1 C T 55 0.335663 0.2311 . MedGen:CN169374 not_specified Benign . . . 0.2693 . UTR5 . 0.251064 . . . . . . . . 0.2245 . -2 +18 9102713 NDUFV2 G A 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 7.759e-05 . UTR5 . 1.94e-05 . . Name\x3dOREG1879398|N/A|STAT1|PAZAR,OREG1480278|N/A|E2F4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1543500|N/A|ETS1|PAZAR . . . . . . Name\x3d99.548319 5 +18 9102738 NDUFV2 C T 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 6.982e-05 . UTR5 . 2.59e-05 . . Name\x3dOREG0253837|N/A|YY1|JASPAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1879398|N/A|STAT1|PAZAR . . . . . . Name\x3d99.516286 5 +18 9117867 NDUFV2 T C 179 0.778954 0.8148 0.840 MedGen:C1838867,OMIM:556500|MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign Name\x3dENSR00000568994|Promoter . . 0.8135 nonsynonymous_SNV exonic . 0.792913 T . Name\x3dOREG1251555|N/A|SMARCA4|PAZAR,OREG1221377|N/A|SMARCA4|PAZAR . B T . . 0.8194 Name\x3d99.503277 2.5 +18 9119489 NDUFV2 A T 19 0.0750799 0.1004 . MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1014 synonymous_SNV exonic . 0.0861632 . . . . . . . . 0.1129 Name\x3d99.705047 -1 +18 9124799 na CT C 142 0.630391 0.5877 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d96.637622 -1 +18 9124909 NDUFV2 C G 1 0.000199681 6.5e-05 5.999 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.724504 6 +18 9126856 NDUFV2 G T 1 0.000199681 . 14.347 . . . . . . 1.844e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d99.694918 11 +18 9134344 na T C 1 0.00339457 0.0104 . . . . . . . . . ncRNA_intronic . 0.0016559 . . . . . . . . . Name\x3d96.248345 -1 +18 9134354 na C G 19 0.0754792 0.1003 . MedGen:C2936907,Orphanet:ORPHA2609 Mitochondrial_complex_I_deficiency Likely_benign . . . . . ncRNA_intronic . 0.0194693 . . . . . . . . . . -2 +18 19358240 MIB1 G C 6 0.0071885 0.0341 . . . . . . . . . intronic . 0.005595 . . Name\x3dOREG1580803|N/A|FOXA1|PAZAR,OREG1639411|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.156903 0 +18 19418264 MIB1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 19423003 MIB1 T C 20 0.0872604 0.0748 . . . . . . . . . intronic . 0.0152973 . . . . . . . . . . -2 +18 19427096 MIB1 A G 20 0.0878594 0.0754 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign . . . 0.0932 . intronic . 0.0780779 . . . . . . . . 0.0848 Name\x3d98.554109 -1 +18 19429173 MIB1 C T 1 0.000199681 . 7.064 . . . . . . 1.852e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.031782 6 +18 19444661 MIB1 A C 20 0.0856629 0.0730 . . . . . . . 0.0795 . UTR3 . 0.0740159 . . Name\x3dOREG1256525|N/A|SMARCA4|PAZAR . . . . . 0.0815 Name\x3d98.699221 0 +18 28647935 DSC2 T A 1 0.00519169 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005 Arrhythmogenic_right_ventricular_cardiomyopathy Likely_benign . . . 0.0032 . UTR3 . 0.0039197 . . . . . . . . . . 2 +18 28647996 DSC2 T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0004683|hsa-miR-362-3p|Experimental . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.850691 6 +18 28647999 DSC2 T TTC 2 0.00359425 0.0169 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0120 frameshift_insertion exonic . 0.0003234 . . . . . . . . 0.0134 Name\x3d99.850691 9 +18 28648200 DSC2 C T 18 0.0199681 0.0586 . . . . . . . 0.0538 . intronic . 0.0369788 . . . . . . . . 0.0607 Name\x3d99.659321 1 +18 28648975 DSC2 C T 9 0.0275559 0.0525 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0551 nonsynonymous_SNV exonic . 0.0472762 T . . . B T . . 0.0452 Name\x3d99.720223 2.5 +18 28649042 DSC2 T C 15 0.196486 0.0801 -1.683 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0017982|hsa-miR-3605-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0004601|hsa-miR-145-3p|Experimental 0.0834 nonsynonymous_SNV exonic . 0.118148 T . . . B T . . 0.0837 Name\x3d99.813745 3.5 +18 28649144 DSC2 G T 2 0.00579073 0.0232 . . . . . . . 0.0187 . intronic . 0.0138873 . . . . . . . . 0.0186 . 0 +18 28649166 DSC2 A G 10 0.0611022 0.0486 . MedGen:CN169374 not_specified Benign . . . 0.0553 . intronic . 0.0619397 . . . . . . . . 0.0498 Name\x3d96.810692 1 +18 28650748 DSC2 A C 1 0.000599042 0.0023 0.742 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0012678 T . . . B T . . 0.0013 Name\x3d99.944164 4.5 +18 28654750 DSC2 G A 1 0.00219649 0.0005 4.177 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0003339|hsa-miR-421|Experimental 0.0013 nonsynonymous_SNV exonic . 0.0011578 T . . . P D . . 0.0013 Name\x3d99.717268 4 +18 28660379 DSC2 G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 2.59e-05 . . . . . . . . . . 4 +18 28666526 DSC2 T TTAA 214 0.996006 1 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign . . . 1 . intronic . 0.0292752 . . . . . . . . 1 Name\x3d97.856104 1 +18 28666646 DSC2 G A 1 0.000199681 . 5.339 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202 Cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.366e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D D . . 0.0001 Name\x3d99.782558 8 +18 28669387 DSC2 C T 1 0.000399361 . . . . . . . . 1.842e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d97.065063 5 +18 28669470 DSC2 C A 1 0.000199681 . 2.982 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.933617 6.5 +18 28670946 DSC2 G C 1 0.00439297 0.0169 . . . . . . . 0.0111 . intronic . 0.0086868 . . . . . . . . 0.0124 Name\x3d98.264198 1 +18 28671068 DSC2 C T 1 0.000599042 . 0.476 . . . . . . 5.582e-05 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . . Name\x3d99.837421 4.5 +18 28671130 DSC2 A G 1 0.000199681 . . . . . . . . 1.923e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.249109 5 +18 28672067 DSC2 T C 3 0.00379393 0.0152 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0127 synonymous_SNV exonic . 0.0087386 . . . . . . . . 0.0117 Name\x3d99.904930 1 +18 28673565 DSC2 T C 25 0.123602 0.1166 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1084 synonymous_SNV exonic . 0.113071 . . . . . . . . 0.1210 Name\x3d99.531283 1 +18 29078121 DSG2 G C 1 0.00738818 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0041494 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.573500 5 +18 29078160 DSG2 G C 1 0.000399361 0.0027 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0074535 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.775761 5 +18 29078333 DSG2 C G 7 0.0189696 0.0166 . . . . Name\x3dENSR00000101963|Promoter . . . . intronic . 0.003053 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.189136 3 +18 29098253 DSG2 G T 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 +18 29098254 DSG2 A G 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 +18 29098323 DSG2 G A 73 0.369209 0.3890 . . . . . . . . . intronic . 0.0734855 . . . . . . . . . Name\x3d98.669675 1 +18 29098345 DSG2 C T 43 0.219848 0.2725 . . . . . . . . . intronic . 0.0511766 . . . . . . . . . Name\x3d97.295206 1 +18 29099850 DSG2 G A 1 0.000199681 0.0021 5.774 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_risk_factor . . . 0.0028 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0035 Name\x3d99.897715 6 +18 29101010 DSG2 G A 1 0.000599042 0.0006 . . . . . . . . . intronic . 0.0001552 . . . . . . . . 0.0013 Name\x3d96.253135 3 +18 29101230 DSG2 T A 31 0.141374 0.1115 . MedGen:CN169374 not_specified Benign . . . 0.1141 . intronic . 0.0143012 . . . . . . . . 0.0699 . 0 +18 29104564 DSG2 C A 44 0.211462 0.265 . MedGen:CN169374 not_specified Benign . . . 0.2530 . intronic . 0.244977 . . . . . . . . 0.2609 Name\x3d97.102655 1 +18 29104632 DSG2 A T 1 0.000399361 0.0002 . . . . . . . 0.0001 . intronic . 0.0001035 . . . . . . . . 0.0002 Name\x3d97.648853 5 +18 29104698 DSG2 C T 74 0.526558 0.3800 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3679 synonymous_SNV exonic . 0.408766 . . . . . . . . 0.3787 Name\x3d99.858351 1 +18 29104714 DSG2 A G 23 0.0323482 0.0937 3.997 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0895 nonsynonymous_SNV exonic . 0.0683626 T . . . D D . . 0.0859 Name\x3d99.893970 4 +18 29104878 DSG2 G A 44 0.216254 0.2658 . MedGen:CN169374 not_specified Benign . . . 0.2558 . intronic . 0.247856 . . . . . . . . 0.2614 Name\x3d97.570463 1 +18 29116462 DSG2 T C 33 0.14357 0.1162 . . . . . . . . . intronic . 0.0221407 . . . . . . . . . Name\x3d98.719724 1 +18 29122618 DSG2 G A 14 0.0259585 0.0845 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0723 nonsynonymous_SNV exonic . 0.0534728 T . . . P T . . 0.0777 Name\x3d99.730255 2.5 +18 29122799 DSG2 G A 41 0.240016 0.2606 2.152 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2549 nonsynonymous_SNV exonic . 0.256601 T . . . B T . . 0.2540 Name\x3d99.929106 2.5 +18 29125854 DSG2 A G 29 0.197484 0.1089 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1085 synonymous_SNV exonic . 0.12745 . . . . . . . . 0.1076 Name\x3d99.924682 1 +18 29126108 DSG2 T G 4 0.00319489 0.0042 3.890 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0048 nonsynonymous_SNV exonic . 0.0034023 T . . . P D . . 0.0050 Name\x3d99.805216 7 +18 29126592 DSG2 C T 1 0.0103834 0.0044 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000690|hsa-miR-296-5p|Experimental 0.0052 synonymous_SNV exonic . 0.0057826 . . . . . . . . 0.0040 Name\x3d99.707654 2 +18 29126670 DSG2 T C 74 0.542931 0.3816 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3694 synonymous_SNV exonic . 0.419658 . . . . . . . . 0.3777 Name\x3d99.903203 1 +18 29171787 TTR C T 1 0.000399361 . . . . . Name\x3dENSR00001016941|TF_binding_site . . . . UTR5 . 7.68e-05 . . Name\x3dOREG1631307|N/A|FOXA1|PAZAR,OREG1572593|N/A|FOXA1|PAZAR,OREG1167690|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.855012 7 +18 29172865 TTR G A 9 0.0233626 0.0818 -0.088 .|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0698 nonsynonymous_SNV exonic . 0.0509825 T . . . B T . . 0.0780 Name\x3d99.333449 2.5 +18 29178513 TTR G C 10 0.0660942 0.0441 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 0.0347 . intronic . 0.0510472 . . . . . . . . 0.0383 Name\x3d99.128424 1 +18 32335915 DTNA A G 19 0.0479233 0.0868 . MedGen:CN169374 not_specified Benign . . . 0.0846 . intronic . 0.0624701 . . . . . . . . 0.0780 Name\x3d98.984495 1 +18 32374062 DTNA G A 2 0.00139776 0.0083 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided Benign/Likely_benign . . . 0.0069 synonymous_SNV exonic . 0.004793 . . . . . . . . 0.0087 Name\x3d99.731206 3 +18 32386101 DTNA C A 23 0.152356 0.1279 . . . . . . . . . intronic . 0.0229945 . . . . . . . . . . 0 +18 32386125 DTNA T C 35 0.1248 0.1175 . . . . . . . . . intronic . 0.023305 . . . . . . . . 0.1116 Name\x3d99.065509 1 +18 32386340 DTNA T C 23 0.152356 0.1280 . . . . . . . . . intronic . 0.0232274 . . . . . . . . . . 0 +18 32398330 DTNA G C 1 0.000199681 . . . . . Name\x3dENSR00001017152|Promoter . . 2.162e-05 . UTR5 . 1.29e-05 . . . . . . . . . Name\x3d99.354172 6 +18 32400909 DTNA AC A 22 0.114617 0.1284 . . . . . . . 0.1095 . intronic . 0.0029172 . . . . . . . . 0.1147 . 0 +18 32407495 DTNA G A 2 0.000399361 0.0010 . . . . . . . . . intronic . 0.00011 . . . . . . . . . Name\x3d98.909511 3 +18 32408892 DTNA A G 3 0.00758786 0.0147 . . . . . . . . . intronic . 0.0019405 . . . . . . . . . Name\x3d98.448154 1 +18 32408900 DTNA T C 63 0.229633 0.2631 . . . . . . . . . intronic . 0.0092208 . . . . . . . . . Name\x3d98.448154 1 +18 32408968 DTNA C A 1 0.000599042 0.0016 . . . . . . . 0.0013 . intronic . 0.0013389 . . . . . . . . 0.0011 Name\x3d99.654894 3 +18 32418186 DTNA T A 63 0.204073 0.2630 . . . . . . . 0.2568 . intronic . 0.224053 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.2615 Name\x3d99.501621 2 +18 32418189 DTNA A G 2 0.0361422 0.0003 . . . . . . . . . intronic . 0.001824 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.0003 Name\x3d99.501621 2 +18 32418634 DTNA T A 20 0.0553115 0.1276 . . . . . . . . . intronic . 0.0184668 . . . . . . . . . Name\x3d99.578210 1 +18 32418771 DTNA A C 1 0.000199681 . 2.223 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.652691 5 +18 32444040 DTNA G A 77 0.29373 0.3523 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign . . . 0.4047 . intronic . 0.28933 . . . . . . . . 0.3304 Name\x3d97.749129 1 +18 32455379 DTNA T C 30 0.128195 0.1410 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000572779|Enhancer . . 0.1214 . intronic . 0.121732 . . . . . . . . 0.1264 Name\x3d99.035438 2 +18 32459584 DTNA C G 1 0.000199681 . 3.167 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.609253 8 +18 32459697 DTNA G A 3 0.00559105 0.0189 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign . . . 0.0100 . intronic . 0.0074255 . . . . . . . . 0.0105 Name\x3d96.677582 1 +18 32459704 DTNA A G 53 0.262181 0.2115 . . . . . . . 0.2213 . intronic . 0.221679 . . . . . . . . 0.2241 Name\x3d95.039333 1 +18 32470291 DTNA G A 48 0.266973 0.1985 2.442 MedGen:CN169374 not_specified Benign . . . 0.2558 nonsynonymous_SNV exonic . 0.0590484 . . . . . . . . . Name\x3d99.706037 2.5 +18 32470459 DTNA C T 45 0.155551 0.1925 . . . . . . . . . UTR3 . 0.0304136 . . . . . . . . . Name\x3d98.999299 1 +18 33935432 FHOD3 G A 1 0.000399361 0.0004 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 2 +18 33952806 FHOD3 C A 1 0.000199681 6.482e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 34081849 FHOD3 A G 77 0.225439 0.4393 . . . . . . . 0.4256 . intronic . 0.267855 . . . . . . . . 0.4057 . -2 +18 34092327 FHOD3 G C 15 0.0934505 0.0653 . . . . . . . . . intronic . 0.0167462 . . . . . . . . . . -2 +18 34156497 FHOD3 A G 1 0.0660942 0.0051 0.448 . . . . . . 0.0051 nonsynonymous_SNV exonic . 0.0300449 T . . . B T . . 0.0043 . -0.5 +18 34182800 FHOD3 A G 73 0.257188 0.3024 . . . . . . . . . intronic . 0.0562606 . . . . . . . . . . -2 +18 34191954 FHOD3 G A 1 0.000199681 . 3.056 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . . 3.5 +18 34205415 FHOD3 T C 30 0.128195 0.1407 . . . . . . . . . intronic . 0.0266491 . . . . . . . . . . -2 +18 34205551 FHOD3 C T 14 0.0872604 0.0556 2.410 . . . . . . 0.0596 synonymous_SNV exonic . 0.0643135 . . . . . . . . 0.0604 Name\x3d95.820949 -1 +18 34232543 FHOD3 G A 7 0.0165735 0.0255 -0.091 . . . . . . 0.0378 nonsynonymous_SNV exonic . 0.0063971 . . . . . . . . . . -0.5 +18 34232610 FHOD3 C T 57 0.319489 0.2828 1.357 . . . . . . 0.3151 nonsynonymous_SNV exonic . 0.0853482 . . . . . . . . . . 0.5 +18 34232657 FHOD3 G A 38 0.0702875 0.1714 -0.089 . . . . . . 0.1381 nonsynonymous_SNV exonic . 0.0329427 . . . . . . . . . . -0.5 +18 34232952 FHOD3 T C 56 0.3125 0.2815 . . . . . . . . . intronic . 0.302021 . . . . . . . . . . -1 +18 34233231 FHOD3 C T 103 0.571086 0.4989 . . . . . . . . . intronic . 0.524474 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . -1 +18 34233356 FHOD3 C G 1 0.00299521 . 2.577 . . . . . . . nonsynonymous_SNV exonic . 0.0001682 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . 2.5 +18 34238093 FHOD3 A C 1 0.000199681 . 1.407 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . . 2 +18 34238217 FHOD3 G A 1 0.00299521 . . . . . . . . . . intronic . 0.0008837 . . . . . . . . . . 0 +18 34261559 FHOD3 T A 100 0.460264 0.4880 . . . . . . . 0.5024 . intronic . 0.449315 . . . . . . . . 0.4265 . 0 +18 34261581 FHOD3 AG A 145 0.63099 0.6529 . . . . . . . 0.6622 . intronic . 0.0184344 . . . . . . . . 0.6421 . -2 +18 34273111 FHOD3 C G 12 0.0107827 0.0340 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0045989 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . Name\x3d97.211657 1 +18 34273149 FHOD3 A C 1 0.000399361 0.0018 . . . . Name\x3dENSR00000573257|Promoter . . 0.0028 . intronic . 0.0013389 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . 0.0013 Name\x3d98.127833 3 +18 34273279 FHOD3 C G 44 0.0902556 0.1758 1.318 . . . Name\x3dENSR00000573257|Promoter . . 0.1792 nonsynonymous_SNV exonic . 0.136745 T . Name\x3dOREG1510214|N/A|EGR1|PAZAR . P T . . 0.1810 . 1.5 +18 34273440 FHOD3 C T 103 0.476238 0.4874 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0927543 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . . 0 +18 34289142 FHOD3 A G 11 0.014976 0.0325 -1.504 . . . . . . 0.0389 nonsynonymous_SNV exonic . 0.027891 T . . . B T . . 0.0335 . -0.5 +18 34289245 FHOD3 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d95.843120 3 +18 34289285 FHOD3 G T 3 0.00579073 0.0219 4.122 . . . . . . 0.0195 nonsynonymous_SNV exonic rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521 0.0141137 T . . . B D . . 0.0236 Name\x3d95.391942 -1 +18 34289364 FHOD3 G A 44 0.0760783 0.1756 . . . . . . . 0.1808 . intronic . 0.12721 . . . . . . . . 0.1782 . -2 +18 34297753 FHOD3 C T 70 0.419329 0.3785 . . . . . . . 0.3667 . intronic . 0.377253 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . 0.3933 . -1 +18 34298542 FHOD3 G A 1 0.00379393 0.0017 3.308 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0023932 T . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . P T . . 0.0023 Name\x3d95.805976 3.5 +18 34298732 FHOD3 G C 65 0.395367 0.3393 . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 0.068893 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 1 +18 34298737 FHOD3 G A 1 0.000199681 . . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 3.84e-05 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 4 +18 34310668 FHOD3 C T 64 0.319489 0.3375 . . . . . . . 0.3199 synonymous_SNV exonic . 0.33768 . . . . . . . . 0.3427 . -1 +18 34322621 FHOD3 C A 1 0.000199681 0.0007 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 0 +18 34322877 FHOD3 G A 2 0.00139776 0.0036 . . . . . . . . . intronic . 0.0004981 . . . . . . . . . . 0 +18 34324091 FHOD3 G A 64 0.376198 0.3175 3.145 . . . . . . 0.3022 nonsynonymous_SNV exonic . 0.336212 T . . . B T . . 0.3263 Name\x3d95.058529 1.5 +18 34324190 FHOD3 C T 63 0.302117 0.3168 . . . . . . . 0.3018 . intronic . 0.313269 . . . . . . . . 0.3251 . -1 +18 34335047 FHOD3 C T 1 0.000798722 . . . . . . . . 0.0003 . intronic . 0.0004398 . . Name\x3dOREG1269681|N/A|SMARCA4|PAZAR . . . . . 0.0002 . 1 +18 34340773 FHOD3 T C 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 4.53e-05 . . . . . . . . 0.0002 . 2 +18 34349434 FHOD3 C T 1 0.000399361 0.0012 . . . . . . . 0.0008 . intronic . 0.0005369 . . . . . . . . 0.0006 . 0 +19 16591464 CALR3 G A 160 0.650559 0.7046 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7092 synonymous_SNV exonic . 0.69243 . . . . . . . . 0.7043 Name\x3d99.478238 2 +19 16593198 CALR3 A G 55 0.175319 0.0005 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 +19 16593203 CALR3 A G 105 0.43131 0.6979 . . . . . . . . . intronic . 0.238359 . . . . . . . . . . 0 +19 16593213 CALR3 AAAAC A 55 0.175319 . . . . . . . . . . intronic . 0.0056791 . . . . . . . . . . 0 +19 16593318 CALR3 C T 1 0.00539137 0.0203 . MedGen:C3151266|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided Benign . . . 0.0159 synonymous_SNV exonic . 0.0122637 . . . . . . . . 0.0167 Name\x3d98.999780 1 +19 16593415 CALR3 G A 160 0.660144 0.7044 . . . . . . . 0.7095 . intronic . 0.693367 . . . . . . . . 0.7048 . 1 +19 16593573 CALR3 G A 33 0.144569 0.1677 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1664 synonymous_SNV exonic . 0.146156 . . . . . . . . 0.1692 Name\x3d99.802942 1 +19 16594967 CALR3 A G 160 0.659744 0.6998 . . . . . . . 0.7082 . intronic . 0.003758 . . . . . . . . 0.7026 . 0 +19 16594979 CALR3 C T 162 0.692492 0.6959 . . . . . . . . . intronic . 0.0001294 . . . . . . . . . . 0 +19 16594989 CALR3 C T 111 0.510583 0.0021 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 0 +19 16601154 CALR3 T C 159 0.603035 0.6990 . . . . . . . 0.7033 . intronic . 0.651324 . . . . . . . . 0.6966 . 0 +19 16601168 CALR3 G A 29 0.114018 0.1466 . MedGen:C3151266|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign . . . 0.1379 . intronic . 0.121493 . . . . . . . . 0.1415 . 0 +19 16601194 CALR3 C T 159 0.658946 0.7032 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7085 synonymous_SNV exonic . 0.695373 . . . . . . . . 0.7038 Name\x3d99.248025 1 +19 16601358 CALR3 G C 1 0.000199681 . 6.383 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.778717 8 +19 16601411 CALR3 A T 4 0.0355431 0.0558 . . . . . . . 0.0534 . intronic . 0.047121 . . . . . . . . 0.0564 Name\x3d98.114091 2 +19 16606589 CALR3 A G 1 0.000199681 . 6.072 . . . Name\x3dENSR00000107764|Promoter . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1787468|N/A|RBL2|PAZAR . P D . . . Name\x3d99.915669 10 +19 16606727 CALR3 G A 4 0.00179712 0.0067 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0009379 . . . . . . . . . Name\x3d99.508743 8 +19 16606742 CALR3 G C 193 0.802316 0.8724 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.163801 . . . . . . . . . Name\x3d99.373565 4 +19 16606766 CALR3 G C 193 0.810104 0.8723 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0001921 . . . . . . . . . Name\x3d99.197480 4 +19 16606821 CALR3 C T 1 0.000798722 0.0023 . . . . Name\x3dENSR00000107764|Promoter . . 0.0056 . intronic . 0.0017335 . . Name\x3dOREG1822681|N/A|RBL2|PAZAR . . . . . 0.0028 Name\x3d99.794574 5 +19 35521779 SCN1B G T 63 0.148163 0.2040 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified Benign Name\x3dENSR00001023991|Promoter . . 0.5 . intronic . 0.024534 . . Name\x3dOREG1175688|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.241974 1 +19 35524558 SCN1B C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.510107 3 +19 35524824 SCN1B T C 112 0.377596 0.3890 -0.608 MedGen:CN169374 not_specified Benign . . . 0.4642 nonsynonymous_SNV exonic . 0.295397 T . . . B D . . 0.3721 Name\x3d98.418747 -1 +19 35524836 SCN1B G A 1 0.000399361 0.0038 1.067 MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202 Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0073 nonsynonymous_SNV exonic . 0.0022509 T . . . B T . . 0.0047 Name\x3d98.498282 2.5 +19 35524939 SCN1B C A 48 0.127396 0.1679 3.869 MedGen:CN169374 not_specified Benign . . . 0.1928 nonsynonymous_SNV exonic . 0.0493008 T . . . B D . . 0.1455 Name\x3d99.032540 -1 +19 35524944 SCN1B G C 48 0.119209 0.1676 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.1932 nonsynonymous_SNV exonic . 0.0480912 T . . . B D . . 0.1454 Name\x3d98.223272 -1 +19 35530073 SCN1B T C 7 0.0155751 0.0294 . EFO:EFO_0005137,MedGen:C2748542|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Seizures|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0305 synonymous_SNV exonic . 0.0241459 . . . . . . . . 0.0321 Name\x3d99.483376 -1 +19 35530482 SCN1B C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +19 35530514 SCN1B T G 3 0.0081869 0.0154 . . . . Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0118692 . . . . . . . . 0.015 Name\x3d98.420194 0 +19 35530525 SCN1B C A 3 0.00798722 0.0155 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0119145 . . . . . . . . 0.0151 Name\x3d99.185828 0 +19 35530580 SCN1B G A 2 0.000399361 0.0005 5.991 Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Seizures|Brugada_syndrome_5|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000588898|Promoter . . 0.0006 nonsynonymous_SNV exonic . 0.0004075 D . . . D D . . 0.0005 Name\x3d99.541412 8 +19 35530586 SCN1B G A 1 0.000199681 6.49e-05 5.849 MedGen:C2748541,OMIM:612838|MedGen:CN169374 Brugada_syndrome_5|not_specified Uncertain_significance Name\x3dENSR00000588898|Promoter . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.682159 10 +19 35530690 SCN1B C G 16 0.0383387 0.0987 . . . . Name\x3dENSR00000588898|Promoter . . . . intronic . 0.0119791 . . . . . . . . . Name\x3d98.412912 0 +19 46273462 na CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 181 0.891573 0.1490 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . . 0 +19 46273522 na G T 1 0.000399361 0.0003 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0003074 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.556010 5 +19 46273627 na G A 2 0.000399361 0.0010 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0008837 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.773124 3 +19 46274171 na A C 110 0.608227 0.4695 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR . . . . . . Name\x3d96.641974 1 +19 46274357 na G A 2 0.00299521 0.0147 . . . . Name\x3dENSR00000110263|Promoter . . 0.0231 . ncRNA_intronic . 0.0034411 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR . . . . . 0.0125 Name\x3d99.318060 1 +19 46274392 na G C 14 0.0543131 0.0550 . . . . Name\x3dENSR00000110263|Promoter . . 0.1435 . ncRNA_intronic . 0.0215974 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d97.711432 1 +19 46274553 na G A 11 0.0177716 0.0525 0.279 . . . Name\x3dENSR00000110263|Promoter . . 0.0595 . ncRNA_intronic . 0.03857 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . 0.0519 Name\x3d97.860318 1 +19 46274624 DMPK G A 1 0.00559105 0.0168 3.047 . . . Name\x3dENSR00000110263|Promoter . . 0.0160 nonsynonymous_SNV exonic . 0.0115134 T . Name\x3dOREG1520271|N/A|EGR1|PAZAR . P T . . 0.0149 Name\x3d99.081705 2.5 +19 46274650 DMPK G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . Name\x3dMIMAT0000752|hsa-miR-328-3p|Experimental 1.859e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.142812 6 +19 46274701 na G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . . 1.875e-05 . ncRNA_intronic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.172526 5 +19 46274972 na A C 110 0.576078 0.4674 . . . . Name\x3dENSR00000110263|Promoter . . 0.4603 . ncRNA_exonic . 0.488474 . . . . . . . . 0.4529 Name\x3d96.522029 0 +19 46275976 DMPK G C 22 0.145168 0.1269 2.333 MedGen:CN169374 not_specified Benign . . . 0.1169 nonsynonymous_SNV exonic . 0.137463 T . . . B T . . 0.1129 Name\x3d99.809992 0.5 +19 46276056 DMPK C A 110 0.53754 0.4681 . . . . . . . 0.4737 . intronic . 0.442232 . . . . . . . . 0.4545 . -2 +19 46278189 DMPK G A 1 0.00559105 0.0001 . . . . Name\x3dENSR00001025154|TF_binding_site . . 0.0001 . intronic . 0.0019211 . . . . . . . . . Name\x3d98.839230 2 +19 46280783 DMPK C T 1 0.000199681 . . . . . . . . 1.853e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.673643 3 +19 46280917 DMPK G A 2 0.00599042 0.0035 . MedGen:CN517202 not_provided Likely_benign . . . 0.0043 . intronic . 0.0056856 . . . . . . . 0.002 0.0044 Name\x3d98.705398 1 +19 46281893 DMPK C T 1 0.000199681 0.0002 3.368 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0002005 T . . . P D . . 0.0002 Name\x3d99.838515 3 +19 46282503 DMPK A C 23 0.122604 0.1352 . . . . Name\x3dENSR00000110267|Promoter . . 0.1222 . intronic . 0.134539 . . Name\x3dOREG1556196|N/A|ETS1|PAZAR . . . . . 0.1176 Name\x3d99.312514 1 +19 46282683 DMPK G A 3 0.0127796 0.0084 . . . . Name\x3dENSR00000110267|Promoter . . 0.0085 . intronic . 0.0102651 . . . . . . . . 0.0093 Name\x3d99.496527 0 +19 46285498 DMPK G A 1 0.000199681 . 2.577 . . . Name\x3dENSR00000110267|Promoter . . 0.0001 nonsynonymous_SNV exonic . 4.53e-05 T . Name\x3dOREG1186606|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.696254 6.5 +19 47104678 CALM3 C A 4 0.00379393 0.0169 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000110393|Promoter . . 0.0295 . UTR5 . 0.0047218 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1609468|N/A|FOXP1|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . 0.0106 . 0 +19 47104779 CALM3 A C 5 0.0249601 0.0239 . . . . Name\x3dENSR00000110393|Promoter . . . . intronic . 0.0226295 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . . . 0 +19 47109011 CALM3 T C 152 0.843051 0.6929 . . . . . . . . . intronic . 0.736207 . . . . . . . . 0.6911 . -2 +19 47109190 CALM3 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +19 47111663 CALM3 T C 152 0.846446 0.6768 . . . . . . . . . intronic . 0.140082 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . . -1 +19 47111722 CALM3 CT C 1 0.000798722 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0009 . intronic . 0.0007374 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0038 . 1 +19 47112159 CALM3 G A 1 0.000199681 . . . . . . . . 1.911e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . Name\x3d97.259635 4 +19 47112357 CALM3 CCT C 3 0.00599042 0.0219 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0003428 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0251 . -1 +19 47112464 CALM3 C T 1 0.000399361 . . . . . . . . . . UTR3 . 0.0001153 . . . . . . . . . Name\x3d96.280663 3 +19 47258674 FKRP C T 55 0.103834 0.2514 . MedGen:CN169374 not_specified Benign . . . 0.2908 . UTR5 . 0.169791 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.2281 Name\x3d99.307915 4 +19 47258842 FKRP C T 32 0.15016 0.1365 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Benign . . . 0.1644 synonymous_SNV exonic . 0.133756 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.1418 Name\x3d99.335022 4 +19 47258956 FKRP C T 2 0.0061901 0.0135 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign . . . 0.0225 synonymous_SNV exonic . 0.0091719 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.0134 Name\x3d99.529250 2 +19 47259048 FKRP C G 9 0.0061901 0.0116 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0409 nonsynonymous_SNV exonic . 0.0057826 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0106 Name\x3d99.369872 2 +19 47259134 FKRP C A 4 0.00259585 0.0048 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0134 nonsynonymous_SNV exonic . 0.0018434 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0049 Name\x3d99.256031 2 +19 47259488 FKRP G A 2 0.000399361 . 1.329 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . . Name\x3d99.216862 6 +19 49661112 TRPM4 G A 61 0.150359 0.2865 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign Name\x3dENSR00000110849|Promoter . . 0.3047 . UTR5 . 0.0014877 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.751585 3 +19 49661274 TRPM4 T G 1 0.000199681 . . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.772546 7 +19 49661547 TRPM4 A G 29 0.223642 0.1320 . . . . Name\x3dENSR00000110849|Promoter . . 0.1416 . intronic . 0.173814 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.1345 Name\x3d98.598376 3 +19 49661582 TRPM4 T C 180 0.599441 0.8594 . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.8564 Name\x3d99.199773 3 +19 49669486 TRPM4 C G 1 0.0319489 0.0016 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0036 . intronic . 0.0104074 . . . . . . . . 0.0026 Name\x3d98.912389 3 +19 49671118 TRPM4 C T 1 0.0207668 . . . . . . . . . . intronic . 0.0009379 . . . . . . . . . . 0 +19 49671151 TRPM4 G A 72 0.338858 0.1345 . . . . . . . 0.3313 . intronic . 0.0008085 . . . . . . . . 0.3301 . 0 +19 49671207 TRPM4 G A 6 0.0159744 0.0115 0.454 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 nonsynonymous_SNV exonic . 0.0197151 T . . . B T . . 0.0187 Name\x3d99.049363 2.5 +19 49671212 TRPM4 T G 6 0.0159744 0.0114 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 synonymous_SNV exonic . 0.0031242 . . . . . . . . 0.0187 Name\x3d99.096345 1 +19 49671281 TRPM4 G A 12 0.0910543 0.0406 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0504 synonymous_SNV exonic . 0.060355 . . . . . . . . 0.0423 Name\x3d98.429518 1 +19 49671482 TRPM4 C T 1 0.00219649 0.0039 . . . . . . . 0.0053 . intronic . 0.0033764 . . . . . . . . 0.0051 . 2 +19 49671507 TRPM4 G A 2 0.0119808 0.0294 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0227 . intronic . 0.0203814 . . . . . . 0.0012 0.006 0.0257 Name\x3d96.899522 1 +19 49671771 TRPM4 C T 6 0.0159744 0.0315 . . . . . . . 0.0221 . intronic . 0.0199027 . . . . . . . . 0.0186 . 2 +19 49671893 TRPM4 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.469685 5 +19 49671980 TRPM4 G A 6 0.0157748 0.0313 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0443 synonymous_SNV exonic . 0.0187643 . . . . . . . . 0.0185 Name\x3d99.145692 3 +19 49674722 TRPM4 G A 4 0.00359425 0.0081 . . . . . . . 0.0098 . intronic . 0.0058343 . . . . . . . . 0.0070 . 6 +19 49674846 TRPM4 C T 1 0.000798722 0.0073 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0044 synonymous_SNV exonic . 0.003247 . . . . . . . . 0.0056 Name\x3d99.454331 3 +19 49675017 TRPM4 G T 10 0.0597045 0.0382 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0460 synonymous_SNV exonic . 0.0467782 . . . . . . . . 0.0372 Name\x3d99.315756 1 +19 49675038 TRPM4 G GGGGC 2 0.0279553 0.0017 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign . . . 0.0030 . intronic . 0.0003428 . . . . . . . . 0.0023 Name\x3d98.801509 1 +19 49675233 TRPM4 C T 12 0.0914537 0.0406 . . . . . . . 0.0494 . intronic . 0.0578259 . . . . . . . . 0.0421 . 0 +19 49675366 TRPM4 G A 1 0.000399361 6.493e-05 4.520 MedGen:C1970298,OMIM:604559|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.686e-05 . splicing . 2.59e-05 . . . . . . 1.0000 0.936 . Name\x3d99.216093 14 +19 49675439 TRPM4 A G 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0002005 . . . . . . . . . . 2 +19 49675456 TRPM4 C T 6 0.00599042 0.0317 . . . . . . . . . intronic . 0.0024838 . . . . . . . . . . 2 +19 49684586 TRPM4 T A 5 0.0145767 0.0642 . MedGen:CN169374 not_specified Benign . . . 0.0571 . intronic . 0.0405752 . . . . . . . . 0.0581 . 1 +19 49684787 TRPM4 CTTTTTTTTTT C 6 0.0181709 0.0367 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . . 0 +19 49685794 TRPM4 C T 1 0.000199681 0.0002 . . . . . . . 0.0009 . intronic . 0.0004916 . . . . . . . . 0.0003 . 2 +19 49685865 TRPM4 G A 1 0.000399361 0.0002 6.830 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004981 D . . . P D . . 0.0010 Name\x3d99.352157 6 +19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 0.0112 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN230736 Brugada_syndrome|Progressive_familial_heart_block_type_1B|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0110 nonframeshift_deletion exonic . 0.0002264 . . . . . . . . 0.0098 Name\x3d99.200078,99.310502,99.196968,99.262524,99.302314 1 +19 49686146 TRPM4 G A 1 0.000399361 0.0016 6.169 EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0018 stopgain exonic . 0.0013195 . . . . . . . . 0.0011 Name\x3d99.104700 11 +19 49691870 TRPM4 C T 3 0.00878594 0.0060 . . . . . . . 0.0061 . intronic . 0.0078136 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0059 . 7 +19 49691871 TRPM4 G A 1 0.00119808 0.0027 . . . . . . . 0.0025 . intronic . 0.0022251 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0045 . 3 +19 49691898 TRPM4 G A 1 0.000399361 0.0003 2.616 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005239 T . Name\x3dOREG1518156|N/A|EGR1|PAZAR . B T 0.0689 0.292 0.0010 Name\x3d99.382074 5.5 +19 49692171 TRPM4 T G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . . . 5 +19 49692373 TRPM4 C G 64 0.34365 0.2948 . . . . . . . 0.3180 . intronic . 0.312984 . . . . . . . . 0.3220 . 0 +19 49694029 TRPM4 G A 2 0.00339457 0.0029 -1.018 MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0019663 T . . . B T . 0.008 0.0017 Name\x3d97.662850 4.5 +19 49699866 TRPM4 C T 16 0.11242 0.0464 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0000101|hsa-miR-103a-3p|Experimental,MIMAT0000104|hsa-miR-107|Experimental 0.1031 synonymous_SNV exonic . 0.0482982 . . . . . . . . 0.0411 Name\x3d99.734596 2 +19 49700017 TRPM4 G A 1 0.00179712 0.0009 3.333 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0007244 T . . . P D . . 0.0016 Name\x3d99.390722 3 +19 49703799 TRPM4 T G 2 0.00259585 0.0063 . . . . . . . . . intronic . 0.0008085 . . . . . . . . . . 2 +19 49713732 TRPM4 G A 1 0.000599042 0.0010 . . . . Name\x3dENSR00000592527|Promoter . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.914772 4 +19 49714732 TRPM4 C G 3 0.0203674 0.0030 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000592527|Promoter . . 0.0041 . intronic . 0.0081047 . . Name\x3dOREG1729593|N/A|HNF4A|PAZAR . . . . . 0.0027 Name\x3d96.824986 3 +19 49714839 TRPM4 C T 3 0.00199681 0.0023 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance Name\x3dENSR00000592527|Promoter . . . . UTR3 . 0.0005757 . . . . . . . . 0.0016 . 7 +19 49714878 TRPM4 T A 1 0.000199681 . . . . . Name\x3dENSR00000592527|Promoter . . . . UTR3 . 3.84e-05 . . . . . . . . . . 5 +19 55665349 TNNI3 A G 1 0.00159744 0.0020 . . . . . . . 0.0015 . intronic . 0.0012807 . . . . . . . . 0.0014 . 2 +19 55665410 TNNI3 C T 20 0.0477236 0.0644 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0724 unknown exonic . 0.0637314 . . . . . . . . 0.0658 Name\x3d99.946490 1 +19 55665584 TNNI3 A C 214 1 1 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479 Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive Benign/Likely_benign Name\x3dENSR00001026301|Enhancer . . 1 . intronic . 0.938261 . . . . . . 0.0052 0.15 . Name\x3d98.896030 2 +19 55666036 TNNI3 G A 1 0.000199681 . . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.325848 6 +19 55666281 TNNI3 C G 1 0.000998403 0.0005 . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 0.0001921 . . . . . . . . . . 3 +19 55667500 TNNI3 A T 1 0.137181 0.0280 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d98.735592 3 +19 55667647 TNNI3 C A 21 0.0227636 0.0549 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.0653 unknown exonic . 3.88e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . 0.0505 Name\x3d99.960088 3 +19 55667871 TNNI3 C A 1 0.000199681 6.494e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0002305 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR,OREG1909172|N/A|STAT1|PAZAR,OREG0396464|N/A|EGR1|JASPAR . . . . . . Name\x3d99.867355 7 +19 55667958 TNNI3 C T 2 0.076877 0.0019 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.0060 . intronic . 0.0168627 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . 0.0036 Name\x3d99.154740 3 +19 55668105 TNNI3 C T 1 0.000199681 . . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.937105 7 +19 55668116 TNNI3 T C 1 0.000199681 6.496e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.855055 7 +19 55668397 TNNI3 C T 20 0.0477236 0.065 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000111601|Promoter . . 0.1308 . intronic . 0.0492814 . . . . . . . . 0.0622 Name\x3d99.853733 2 +19 55668509 TNNI3 A T 51 0.458067 0.1971 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.2447 . intronic . 0.283651 . . . . . . 0.0021 0.14 0.1948 Name\x3d99.869269 2 +19 55668819 TNNI3 A G 48 0.247204 0.1668 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0364032 . . Name\x3dOREG0604679|N/A|ELF1|JASPAR . . . . . . Name\x3d99.801440 3 +19 55668848 TNNI3 G C 25 0.0716853 0.0613 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0136674 . . . . . . . . 0.0679 Name\x3d98.637312 2 +19 55668992 TNNI3 G T 2 0.076877 0.0019 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign . . . 0.0028 . UTR5 . 0.0224318 . . . . . . . . 0.0033 Name\x3d99.341289 1 +19 55669004 TNNI3 G A 1 0.00259585 0.0088 . . . . . . . 0.0108 . UTR5 . 0.0074579 . . . . . . . . 0.0094 Name\x3d99.562649 1 +19 55669055 TNNI3 G T 1 0.00519169 0.0127 . . . . . . . 0.0177 . UTR5 . 0.010375 . . . . . . . . . Name\x3d99.531250 2 +1 2985808 PRDM16 T C 26 0.0347444 . . . . . Name\x3dENSR00000000391|Promoter . . 0.0003 . UTR5 . 0.0011255 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . . Name\x3d99.562232 1 +1 2985885 PRDM16 C G 75 0.360224 0.4221 . . . . Name\x3dENSR00000000391|Promoter . . 0.4487 . intronic . 0.340642 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . 0.3766 Name\x3d99.516698 1 +1 3102751 PRDM16 G A 1 0.00119808 0.0036 3.057 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0028 nonsynonymous_SNV exonic . 0.0020504 T . . . P D . . 0.0025 Name\x3d99.609489 1 +1 3102852 PRDM16 G A 1 0.00119808 0.0013 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0019275 . . Name\x3dOREG1184902|N/A|TFAP2C|PAZAR . . . . . 0.0029 Name\x3d99.777510 2 +1 3301721 PRDM16 C T 56 0.340455 0.2763 . MedGen:CN169374 not_specified Benign . . . 0.2708 synonymous_SNV exonic . 0.316684 . . . . . . . . 0.2668 Name\x3d99.546050 -1 +1 3313213 PRDM16 G A 2 0.00379393 0.0079 . . . . . . . . . intronic . 0.0068772 . . . . . . . . . . 0 +1 3319339 PRDM16 G A 14 0.0213658 0.0753 . MedGen:CN169374 not_specified Benign . . . 0.0693 . intronic . 0.0514806 . . . . . . . . . . -2 +1 3319461 PRDM16 C T 3 0.0115815 0.0110 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0101 synonymous_SNV exonic . 0.0133375 . . . . . . . . 0.0107 Name\x3d99.864227 -1 +1 3319541 PRDM16 G A 1 0.000199681 . 1.963 MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Uncertain_significance . . . 3.694e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.898933 4.5 +1 3319601 PRDM16 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 54 0.35603 0.2805 . . . . . . . 0.1615 . intronic . 0.169881 . . . . . . . . 0.1776 . -2 +1 3321303 PRDM16 C T 1 0.000199681 . . . . . . . . 1.847e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . 0.0142 0.272 . Name\x3d99.833138 3 +1 3322049 PRDM16 G A 1 0.000399361 0.0003 . MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign . . . 7.79e-05 . intronic . 8.41e-05 . . . . . . 0.0001 0.002 0.0002 Name\x3d97.168282 3 +1 3327904 PRDM16 G A 3 0.00199681 0.0104 . . . . . . . 0.0058 . intronic . 0.0043466 . . . . . . . . 0.0051 Name\x3d98.695749 -1 +1 3327973 PRDM16 G A 2 0.00279553 0.0066 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0059 synonymous_SNV exonic . 0.0039456 . . . . . . . . 0.0054 Name\x3d99.895594 1 +1 3328358 PRDM16 T C 181 0.945088 0.8435 -0.543 MedGen:CN169374 not_specified Benign . . . 0.8420 nonsynonymous_SNV exonic . 0.871858 T . . . B T . . 0.8356 Name\x3d99.876291 0.5 +1 3328499 PRDM16 G A 1 0.000599042 6.499e-05 0.428 . . . . . . 3.719e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.688538 2.5 +1 3328646 PRDM16 G A 1 0.000199681 . 1.763 . . . . . . 3.79e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.892011 4.5 +1 3328659 PRDM16 C T 48 0.10603 0.1399 3.424 MedGen:CN169374 not_specified Benign . . . 0.1654 nonsynonymous_SNV exonic rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448 0.126176 T . . . B D . . 0.1516 Name\x3d99.885826 -1 +1 3329051 PRDM16 G A 1 0.000798722 0.0015 -0.133 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.001313 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . P T . . 0.0024 Name\x3d99.765136 3.5 +1 3329182 PRDM16 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 9.06e-05 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . . Name\x3d99.810339 4 +1 3329213 PRDM16 G A 2 0.00119808 0.0025 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0016041 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D T . . 0.0020 Name\x3d99.670412 2 +1 3329229 PRDM16 G C 1 0.000798722 0.0034 4.698 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0078 nonsynonymous_SNV exonic . 0.0012742 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D D . . 0.0019 Name\x3d99.798685 5 +1 3329384 PRDM16 C T 46 0.107029 0.1381 . MedGen:CN169374 not_specified Benign . . . 0.2509 . intronic rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314 0.0647469 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . 0.1344 Name\x3d98.800923 0 +1 3331099 PRDM16 C T 2 0.00199681 0.0081 . . . . . . . 0.0130 . intronic . 0.0057179 . . . . . . . . 0.0098 Name\x3d99.532652 -1 +1 3331192 PRDM16 C T 1 0.000399361 . 6.541 . . . . . . 1.93e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.699868 6 +1 3334598 PRDM16 C T 1 0.00539137 0.0159 . . . . . . . 0.0149 . intronic . 0.0090749 . . . . . . . . 0.0090 . -2 +1 3335162 PRDM16 A G 2 0.00319489 6.504e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 +1 3342109 PRDM16 G T 66 0.117412 0.1958 . . . . . . . 0.2241 . intronic . 0.167973 . . . . . . . . 0.2125 . -2 +1 3342128 PRDM16 G A 1 0.00539137 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0178 . intronic . 0.0131434 . . . . . . . . 0.0206 Name\x3d95.477051 -1 +1 3342364 PRDM16 C T 11 0.0613019 0.0384 . . . . . . . 0.0401 . intronic . 0.0397537 . . . . . . . . 0.0374 . -2 +1 3342804 PRDM16 G T 61 0.379393 0.2639 . MedGen:CN169374 not_specified Benign . . . 0.2665 . intronic . 0.292745 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.2724 . -1 +1 3342817 PRDM16 A T 1 0.000399361 0.0003 . . . . . . . 0.0003 . intronic . 0.0001876 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.0004 . 3 +1 3350173 PRDM16 T C 71 0.403754 0.0367 . . . . . . . . . intronic . 0.0355041 . . . . . . . . . . -2 +1 3350409 PRDM16 G A 4 0.0982428 0.0254 . . . . . . . 0.0285 . UTR3 . 0.0558466 . . . . . . . . 0.0266 Name\x3d97.118171 -1 +1 11905974 na A G 10 0.0309505 0.0548 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858 0.0091202 . . . . . . . . 0.0522 . -1 +1 11905981 na A G 24 0.179113 0.1377 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0285443 . . . . . . . . 0.1496 . 0 +1 11905995 na C A 10 0.0221645 0.0513 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0093272 . . . . . . . . 0.0641 . 0 +1 11906068 NPPA A G 24 0.179113 0.1381 1.595 MedGen:CN169374 not_specified Benign . . . 0.1315 stoploss exonic . 0.142514 . . . . . . . . 0.1552 Name\x3d97.212879 8 +1 11906129 na G T 1 0.000199681 6.488e-05 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +1 11907603 na G A 14 0.129593 0.0864 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.0730 . ncRNA_exonic . 0.0886405 . . . . . . . . 0.0877 . -1 +1 11907648 NPPA C T 3 0.0734824 0.0456 0.267 . . . . . . 0.0425 nonsynonymous_SNV exonic rs5063|Psoriasis|1.1764705|4E-9|PMID:25854761 0.0558854 T . . . P T . . 0.0471 Name\x3d97.940426 0.5 +1 26378362 TRIM63 C T 1 0.00219649 0.0072 . . . . . . . 0.0062 . UTR3 . 0.0045148 . . . . . . . . 0.0086 . 0 +1 26378415 TRIM63 G A 1 0.000199681 . . . . . . . . 2.051e-05 . intronic . 6.5e-06 . . . . . . . . . . 2 +1 26383618 TRIM63 C G 2 0.0964457 0.0019 . . . . . . . . . intronic . 0.0052393 . . . . . . . . . . -2 +1 26383645 TRIM63 CCAGGGGT C 52 0.0926518 0.2515 . . . . . . . 0.2398 . intronic . 0.005388 . . . . . . . . 0.2340 . -2 +1 26383647 TRIM63 A G 1 0.000199681 . . . . . . . . 9.809e-05 . intronic . 2.59e-05 . . . . . . . . . . 2 +1 26383700 TRIM63 C G 1 0.000199681 . 2.499 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.818774 4.5 +1 26383875 TRIM63 A G 62 0.260783 0.1931 . . . . . . . . . intronic . 0.044883 . . . . . . . . . . 0 +1 26384013 TRIM63 A G 59 0.117412 0.1902 . . . . . . . . . intronic . 0.0349931 . . . . . . . . . . 0 +1 26385003 TRIM63 T C 60 0.182308 0.1924 1.211 . . . . . . 0.2233 nonsynonymous_SNV exonic . 0.19232 T . . . B T . . 0.2165 Name\x3d97.333441 2.5 +1 26385150 TRIM63 G C 60 0.156749 0.1923 . . . . . . . 0.2238 . intronic . 0.182469 . . . . . . . . 0.2160 . 0 +1 26386771 TRIM63 G A 1 0.000199681 . 1.871 . . . Name\x3dENSR00000351410|TF_binding_site . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d98.755141 5.5 +1 26387625 TRIM63 A C 50 0.11881 0.1613 . . . . . . . 0.1881 . intronic . 0.146182 . . . . . . . . 0.1777 . -1 +1 26387783 TRIM63 G A 1 0.00119808 0.0023 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0011449 . . . . . . . . 0.0026 Name\x3d98.084419 1 +1 26392824 TRIM63 C A 5 0.0183706 0.1037 . . . . Name\x3dENSR00000351413|Promoter . . 0.0786 synonymous_SNV exonic . 0.0555814 . . . . . . . . 0.0844 Name\x3d98.071261 1 +1 26393974 TRIM63 C T 3 0.0415335 0.0010 . . . . Name\x3dENSR00000351413|Promoter . . 0.0011 synonymous_SNV exonic . 0.0153297 . . . . . . . . 0.0010 Name\x3d97.728132 0 +1 74701107 TNNI3K C T 4 0.00559105 0.0131 . . . . . . . 0.0126 . UTR5 . 0.0090102 . . . . . . . . 0.0136 . -2 +1 74701295 na T A 214 0.976837 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 74701950 na T A 63 0.351837 0.3152 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -1 +1 74716310 na C A 1 0.0692891 0.0004 . . . . . . . 0.0007 . intronic . 0.0180205 . . . . . . . . 0.0010 . -2 +1 74716515 na CT CTT,C 1 0.0299521 0.0746 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 74716524 na T C 5 0.0299521 0.0591 . . . . . . . . . intronic . 0.0171738 . . . . . . . . . . -2 +1 74737269 na T C 1 0.000399361 0.0001 . . . . . . . 0.0004 . intronic . 0.0002717 . . . . . . . . 0.0003 . 2 +1 74737274 na C T 3 0.00579073 0.0052 . . . . . . . 0.0086 . intronic . 0.0055433 . . . . . . . 0.002 0.0083 . 4 +1 74801864 na A G 9 0.113019 0.0335 . . . . . . . 0.0459 . intronic . 0.063602 . . . . . . . . 0.0399 . -2 +1 74801871 na G C 5 0.00339457 0.0096 . . . . . . . 0.0090 . intronic . 0.0061642 . . . . . . . . 0.0081 . 8 +1 74801878 na G A 1 0.000199681 0.0004 . . . . . . . 0.0005 . intronic . 0.0002458 . . . . . . . . 0.0001 . 0 +1 74808620 na G C 2 0.00119808 0.0025 -2.697 . . . . . . 0.0022 nonsynonymous_SNV exonic . 0.001423 T . . . B T . . 0.0016 . 1.5 +1 74808631 na C T 1 0.00199681 0.0016 5.184 . . . . . . 0.0019 nonsynonymous_SNV exonic . 0.0022315 T . . . P D . . 0.0024 Name\x3d95.291731 4 +1 74818872 na G A 6 0.0535144 0.0585 . . . . . . . . . intronic . 0.0105238 . . . . . . . . . . -2 +1 74819077 na T G 208 0.939097 0.9416 . . . . . . . 0.9435 . intronic . 0.924555 . . . . . . . . 0.9423 . -2 +1 74832855 na C T 1 0.00159744 0.0042 . . . . . . . . . intronic . 0.0003752 . . . . . . . . . . 0 +1 74833505 na G A 1 0.00359425 0.0001 . . . . . . . . . intronic . 0.0002911 . . . . . . . . . . 0 +1 74836154 na T G 6 0.0535144 0.0588 . . . . . . . . . intronic . 0.0104397 . . . . . . . . . . -2 +1 74901739 na CT C 119 0.540335 0.7325 . . . . . . . 0.1365 . intronic . 0.0003622 . . . . . . . . . . -2 +1 74901829 na A C 8 0.0776757 0.0596 . . . . . . . 0.0616 . intronic . 0.0636085 . . . . . . . . 0.06 . -2 +1 74902244 na A G 8 0.0662939 0.0619 . . . . . . . 0.0621 . intronic . 0.0607301 . . . . . . . . 0.0619 Name\x3d95.654677 -1 +1 74929048 na T G 2 0.00319489 0.0093 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 +1 74929075 na T C 3 0.0660942 0.0056 . . . . . . . 0.0076 . intronic . 0.0267849 . . . . . . . . 0.0070 . -2 +1 74929131 na C G 3 0.00858626 . 6.930 . . . . . . 1.862e-05 nonsynonymous_SNV exonic . 0.0002781 D . . . D D . . . Name\x3d97.509553 11 +1 74954856 na C CT 4 0.081869 0.0119 . . . . . . . 0.0137 . intronic . 0.0010155 . . . . . . . . 0.0168 . -2 +1 74957896 na G C 1 0.000199681 6.484e-05 7.042 . . . . . . 7.374e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . D T . . 0.0001 Name\x3d97.168821 6 +1 75005984 na C T 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d95.128939 3 +1 75006027 na A G 120 0.324481 0.5647 . . . . . . . 0.5594 . intronic . 0.0032665 . . . . . . . . 0.5560 . -2 +1 75006076 na G A 204 0.916334 0.9606 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 75009539 na G A 1 0.000199681 . . . . . . . . 1.866e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +1 75009749 na A G 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d98.637970 3 +1 78383467 NEXN G A 189 0.763778 0.8547 . . . . . . . 0.8610 . intronic . 0.788858 . . . . . . . . 0.8608 Name\x3d99.448456 1 +1 78383669 NEXN G C 1 0.000199681 . 5.175 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.825396 8 +1 78383732 NEXN C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.926567 5 +1 78390821 NEXN CA C 5 0.00938498 0.0163 . . . . . . . . . intronic . 0.0016905 . . . . . . . . 0.0251 Name\x3d99.749426 1 +1 78391020 NEXN T C 4 0.0341454 0.0174 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.131935 1 +1 78392446 NEXN G A 48 0.150759 0.2103 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000008757|Promoter . . 0.2162 nonsynonymous_SNV exonic rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370 0.0013907 T . . . D D . . 0.2073 Name\x3d99.839430 5 +1 78394997 NEXN T C 1 0.000199681 . . . . . . . . 1.864e-05 . intronic . 1.29e-05 . . . . . . . 0.03 . Name\x3d97.612935 5 +1 78399207 NEXN C G 172 0.664537 0.8149 . . . . . . . 0.8178 . intronic . 0.0001552 . . . . . . . . 0.8166 . 0 +1 78399212 NEXN T C 17 0.0944489 0.0396 . . . . . . . 0.0612 . intronic . 0.0485311 . . . . . . . . 0.0437 . 0 +1 78407911 NEXN C G 1 0.00119808 0.0038 . MedGen:CN169374 not_specified Benign . . . 0.0028 . intronic . 0.0027555 . . Name\x3dOREG1242724|N/A|SMARCA4|PAZAR . . . . . 0.0032 Name\x3d96.932182 4 +1 78408536 NEXN C G 16 0.122005 0.0856 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.1187 . UTR3 . 0.0998111 . . . . . . . . 0.0849 Name\x3d99.352839 1 +1 112318945 KCND3 C A 1 0.000199681 . . . . . Name\x3dENSR00000368797|Enhancer . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.612548 4 +1 112319899 KCND3 C T 2 0.000399361 . . . . . . . . 7.36e-05 . intronic . 4.53e-05 . . . . . . . . . Name\x3d99.583364 3 +1 112320984 KCND3 G A 1 0.0285543 0.0007 . . . . Name\x3dENSR00000368799|Enhancer . . . . intronic . 0.0086061 . . . . . . . . . Name\x3d98.627817 0 +1 112321032 KCND3 T A 26 0.192692 0.2084 . . . . Name\x3dENSR00000368799|Enhancer . . 0.1952 . intronic . 0.180444 . . . . . . . . 0.1974 Name\x3d99.550118 1 +1 112329551 KCND3 G T 35 0.192692 0.1555 . MedGen:CN169374 not_specified Benign . . . 0.1486 . intronic . 0.161634 . . . . . . . . 0.1417 Name\x3d98.047328 -1 +1 112524467 KCND3 G C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . . Name\x3d99.758332 4 +1 112524583 KCND3 G A 1 0.000199681 . 6.470 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1520082|N/A|EGR1|PAZAR . D D . . . Name\x3d99.769855 10 +1 112524680 KCND3 C G 3 0.0081869 0.0255 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign . . . 0.0200 synonymous_SNV exonic . 0.0141395 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.0186 Name\x3d99.770690 0 +1 112525085 KCND3 G A 14 0.0471246 0.1159 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1249 synonymous_SNV exonic . 0.0906068 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.1205 Name\x3d99.749781 0 +1 115252142 NRAS A T 1 0.000199681 . . . . . . . . 1.843e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.365687 3 +1 115252280 NRAS C T 1 0.000199681 0.0006 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign . . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0006 Name\x3d99.689718 1 +1 115256669 NRAS G A 144 0.8752 0.6349 . . . . . . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d99.124346 -1 +1 115258827 NRAS T G 46 0.202276 6.491e-05 . . . . Name\x3dENSR00000011708|Promoter . . 0.0049 . intronic . 0.0136221 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 +1 115258830 NRAS C G 46 0.221446 . . . . . Name\x3dENSR00000011708|Promoter . . 0.0543 . intronic . 0.0638284 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 +1 116243868 CASQ2 A G 14 0.0309505 0.0683 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0625 synonymous_SNV exonic . 0.0529683 . . . . . . . . 0.0614 Name\x3d99.698690 1 +1 116243877 CASQ2 G A 106 0.425719 0.3610 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3609 synonymous_SNV exonic . 0.0005692 . . . . . . . . 0.3573 Name\x3d99.771213 1 +1 116245655 CASQ2 G C 61 0.216054 0.2199 . . . . . . . 0.2322 . intronic . 0.196233 . . Name\x3dOREG1489158|N/A|EGR1|PAZAR . . . . . 0.2029 Name\x3d99.527187 2 +1 116247790 CASQ2 G A 60 0.428714 0.2944 . MedGen:CN169374 not_specified Benign . . . 0.3097 . intronic . 0.342441 . . . . . . . . 0.3197 . 0 +1 116260532 CASQ2 A T 134 0.642772 0.5360 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign Name\x3dENSR00000369737|Enhancer . . 0.5446 . intronic . 0.573414 . . . . . . . . 0.5505 Name\x3d98.848888 2 +1 116260544 CASQ2 C T 74 0.250799 0.2373 . . . . Name\x3dENSR00000369737|Enhancer . . 0.2309 . intronic . 0.231912 . . . . . . . . 0.2274 Name\x3d98.991300 2 +1 116260604 CASQ2 G A 134 0.630591 0.5365 . . . . Name\x3dENSR00000369737|Enhancer . . . . intronic . 0.111221 . . . . . . . . . Name\x3d97.371601 2 +1 116268154 CASQ2 C T 1 0.000399361 . 5.979 MedGen:CN169374 not_specified Uncertain_significance . . . 9.216e-05 nonsynonymous_SNV exonic . 7.76e-05 T . . . B D . . . Name\x3d99.915304 8 +1 116268178 CASQ2 GAA G 117 0.505391 0.5078 . MedGen:CN169374 not_specified Benign . . . 0.1112 . intronic . 0.0001552 . . . . . . . . . Name\x3d99.780676 1 +1 116268283 CASQ2 C T 129 0.567292 0.5282 . . . . . . . . . intronic . 0.548025 . . . . . . . . . Name\x3d95.605143 1 +1 116269560 CASQ2 C T 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.652906 5 +1 116275561 CASQ2 G C 1 0.000399361 0.0006 5.974 MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0006986 D . . . D D . . 0.0010 Name\x3d99.855039 9 +1 116283343 CASQ2 A G 188 0.64357 0.8592 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign . . . 0.8695 . intronic . 0.785559 . . . . . . 0.0183 0.076 0.8780 Name\x3d99.773890 1 +1 116283526 CASQ2 G A 188 0.64357 0.8592 . . . . . . . . . intronic . 0.157837 . . . . . . . . . Name\x3d97.990499 1 +1 116310943 CASQ2 C A 1 0.000199681 . 11.767 . . . Name\x3dENSR00000369751|Promoter . . 1.84e-05 stopgain exonic . 1.29e-05 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . . Name\x3d99.870293 15 +1 116310967 CASQ2 T C 79 0.401158 0.2586 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000369751|Promoter . . 0.2848 nonsynonymous_SNV exonic rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220 0.320132 T . Name\x3dOREG1489157|N/A|EGR1|PAZAR . B T . . 0.2891 Name\x3d99.668376 5.5 +1 116311198 CASQ2 T C 214 0.96246 0.9993 . . . . Name\x3dENSR00000369751|Promoter . . 0.9991 . UTR5 . 0.955673 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . 0.9994 Name\x3d97.930141 3 +1 147230217 GJA5 T C 167 0.880391 0.7750 . . . . . . . . . UTR3 . 0.163019 . . . . . . . . . . -2 +1 147230978 GJA5 G A 3 0.0163738 0.0050 . MedGen:C3279693,OMIM:614049|MedGen:C3468561,Orphanet:ORPHA334|MedGen:C4551959,OMIM:108770 Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation|Atrial_standstill_1 Benign/Likely_benign . . . 0.0071 synonymous_SNV exonic . 0.0088162 . . . . . . . . 0.0064 Name\x3d98.569602 -1 +1 156084760 LMNA C T 2 0.00678914 0.0115 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign Name\x3dENSR00000014148|Promoter . . 0.0405 synonymous_SNV exonic . 0.0088873 . . Name\x3dOREG1888508|N/A|STAT1|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR,OREG1259368|N/A|SMARCA4|PAZAR . . . . . 0.0126 Name\x3d99.741400 3 +1 156104292 LMNA G A 5 0.00798722 0.0078 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0088 synonymous_SNV exonic . 0.0089973 . . . . . . . . 0.0073 Name\x3d99.637898 11 +1 156104375 LMNA G T 3 0.077476 0.0226 . . . . . . . . . intronic . 0.007335 . . . . . . . . . Name\x3d96.702863 1 +1 156104392 LMNA C T 3 0.0750799 0.0227 . . . . . . . . . intronic . 0.007018 . . . . . . . . . Name\x3d96.072802 1 +1 156104659 LMNA C T 1 0.000199681 . 4.678 . . . . . Name\x3dMIMAT0004687|hsa-miR-371a-5p|Experimental . nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.613897 6 +1 156105028 LMNA T C 32 0.193091 0.0701 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . Name\x3dMIMAT0000071|hsa-miR-17-3p|Experimental 0.0717 synonymous_SNV exonic . 0.106389 . . . . . . . . 0.0751 Name\x3d99.584850 2 +1 156105928 LMNA G A 31 0.192292 0.0692 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Benign/Likely_benign . . . 0.0708 . intronic . 0.10364 . . . . . . . . 0.0748 Name\x3d99.059805 1 +1 156105961 LMNA C T 3 0.00219649 0.0133 . MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202 Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided Benign . . . 0.0109 . intronic . 0.0079624 . . . . . . . . 0.0069 Name\x3d98.499001 1 +1 156106185 LMNA T C 31 0.249201 0.0703 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.0977 synonymous_SNV exonic . 0.120911 . . . . . . . . 0.0760 Name\x3d99.702397 1 +1 156106863 LMNA C T 31 0.182308 0.0697 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0713 . intronic . 0.102677 . . . . . . . . 0.0751 Name\x3d97.631424 1 +1 156107470 LMNA G A 1 0.000199681 0.0006 4.275 Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0001358 D . . . D T . . 0.0004 Name\x3d99.670614 6 +1 156107534 LMNA C T 45 0.220248 0.2487 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.2886 synonymous_SNV exonic . 0.116195 . . . . . . . . 0.2531 Name\x3d99.674683 1 +1 156108325 LMNA G A 1 0.000199681 6.483e-05 7.313 MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202 Familial_partial_lipodystrophy_2|not_provided Pathogenic . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1498572|N/A|EGR1|PAZAR . D D . . . Name\x3d99.626187 12 +1 156108610 LMNA G T 2 0.000998403 0.0018 . . . . . . . . . intronic . 0.0002717 . . Name\x3dOREG1498572|N/A|EGR1|PAZAR . . . . . . Name\x3d97.866814 4 +1 156108976 LMNA G C 32 0.185304 0.0696 . MedGen:CN517202 not_provided not_provided . . . . . UTR3 . 0.0188031 . . . . . . . . 0.0773 Name\x3d99.120371 1 +1 156109536 LMNA G A 4 0.00319489 0.0109 . . . . . . . 0.0192 . UTR3 . 0.0024126 . . . . . . . . . Name\x3d99.321233 1 +1 162257246 NOS1AP A G 2 0.00599042 0.0131 . . . . . . . 0.0177 . intronic . 0.0117916 . . . . . . . . 0.0174 . -2 +1 162270589 NOS1AP T C 1 0.000199681 . . . . . Name\x3dENSR00000375341|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . . 3 +1 162302846 NOS1AP C T 2 0.00319489 0.0049 . MedGen:CN517202 not_provided Benign . . . 0.0042 synonymous_SNV exonic . 0.0033764 . . . . . . . . 0.0041 Name\x3d98.165457 1 +1 162313597 NOS1AP T C 208 0.925919 0.9815 . . . . . . . 0.9796 . intronic . 0.947808 . . . . . . . . 0.9816 . -2 +1 162313735 NOS1AP C T 74 0.430911 0.3649 . . . . . . . 0.3669 synonymous_SNV exonic . 0.397168 . . . . . . . . 0.3571 Name\x3d97.807592 -1 +1 162324934 NOS1AP G T 1 0.000998403 6.487e-05 . . . . . . . 1.843e-05 . intronic . 0.0003169 . . . . . . . . . . 0 +1 162325172 NOS1AP T G 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.000207 . . . . . . . . 0.0005 . 0 +1 162326755 NOS1AP G A 1 0.000599042 0.0003 . . . . . . . 7.363e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . 0.0002 Name\x3d96.457502 1 +1 162326851 NOS1AP C T 1 0.00159744 0.0082 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Likely_benign . . . 0.0092 synonymous_SNV exonic . 0.0059378 . . . . . . . . 0.0073 Name\x3d98.477502 1 +1 162335256 NOS1AP C T 37 0.250799 0.1074 . . . . Name\x3dENSR00000932148|Enhancer . . 0.1186 synonymous_SNV exonic . 0.166621 . . . . . . . . 0.1199 Name\x3d97.930348 0 +1 162335289 NOS1AP G A 1 0.000199681 . 3.967 . . . Name\x3dENSR00000932148|Enhancer . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d98.122376 4 +1 162335424 NOS1AP T C 176 0.719249 0.8913 . . . . . . . . . intronic . 0.162191 . . . . . . . . . . -2 +1 201328267 TNNT2 G A 3 0.00678914 0.0282 . . . . . . . . . UTR3 . 0.0031371 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0270 Name\x3d98.232803 2 +1 201328272 TNNT2 C T 7 0.00738818 0.0244 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.003564 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0330 Name\x3d97.895900 2 +1 201328301 TNNT2 G A 1 0.00159744 0.0005 . . . . . . . 0.0008 . UTR3 . 0.0012031 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0003 Name\x3d95.543918 4 +1 201328329 TNNT2 G A 1 0.000199681 . . . . . . . . 5.033e-05 . UTR3 . 2.59e-05 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0001 . 5 +1 201328348 TNNT2 C A 1 0.000199681 . 8.083 . . . Name\x3dENSR00000935437|Enhancer . . 2.359e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . D D . . . Name\x3d99.903008 10 +1 201328705 TNNT2 G A 10 0.0113818 0.0263 . . . . . . . 0.0384 . intronic rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341 0.0193788 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0283 Name\x3d96.534858 2 +1 201328824 TNNT2 G A 23 0.277157 0.0993 . MedGen:CN169374 not_specified Benign . . . 0.1404 . intronic . 0.132896 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.1020 Name\x3d97.174482 2 +1 201328913 TNNT2 G C 23 0.277955 0.0988 . . . . . . . . . intronic . 0.152144 . . . . . . . . . . 0 +1 201330429 TNNT2 T C 5 0.0974441 0.0179 2.213 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0168 nonsynonymous_SNV exonic . 0.047024 T . . . B T . . 0.0148 Name\x3d99.885874 2.5 +1 201330583 TNNT2 A G 12 0.170927 0.1028 . . . . . . . . . intronic . 0.003112 . . . . . . . . . Name\x3d99.196602 1 +1 201331240 TNNT2 C T 1 0.0341454 0.0005 . . . . . . . 0.0007 nonsynonymous_SNV exonic . 0.0091719 . . . . . . . . . Name\x3d99.348823 2.5 +1 201331335 TNNT2 A G 12 0.165535 0.1032 . . . . . . . . . intronic . 0.0212546 . . . . . . . . 0.1018 Name\x3d98.670438 1 +1 201331379 TNNT2 T C 12 0.165335 0.1030 . . . . . . . . . intronic . 0.0238677 . . . . . . . . . Name\x3d97.911480 1 +1 201334382 TNNT2 G A 160 0.695088 0.7215 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7150 synonymous_SNV exonic . 0.712837 . . . . . . . . 0.7184 Name\x3d99.912799 1 +1 201334795 TNNT2 C T 23 0.0824681 0.0613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0626 synonymous_SNV exonic . 0.0622954 . . . . . . . . 0.0634 Name\x3d99.887891 1 +1 201335899 TNNT2 C T 214 0.98143 0.9995 . . . . . . . . . intronic . 0.947287 . . . . . . . . 0.9991 . 0 +1 201336984 TNNT2 C T 97 0.285543 0.4637 . MedGen:CN169374 not_specified Benign . . . 0.4556 . intronic . 0.389284 . . . . . . . . 0.4466 Name\x3d98.303597 1 +1 201337340 TNNT2 G T 1 0.000199681 . -0.485 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.438160 5 +1 201338553 TNNT2 T C 160 0.734625 0.7233 . . . . . . . . . intronic . 0.0237821 . . . . . . . . 0.7219 Name\x3d98.438366 1 +1 201338586 TNNT2 A G 137 0.519169 0.6265 . . . . . . . . . intronic . 0.0995653 . . . . . . . . . . 0 +1 201338896 TNNT2 T C 137 0.529952 0.6267 . . . . . . . 0.6176 . intronic . 0.0034088 . . . . . . . . 0.6210 Name\x3d96.452912 1 +1 201339043 TNNT2 C T 142 0.536142 0.6338 . . . . . . . . . intronic . 0.115717 . . . . . . . . 0.6332 Name\x3d95.498272 1 +1 201339044 TNNT2 G A 12 0.0678914 0.0995 . . . . . . . . . intronic . 0.0184409 . . . . . . . . 0.1009 Name\x3d95.498272 1 +1 201341175 TNNT2 CAGAAG C 137 0.520367 0.6186 . . . . . . . 0.6146 . intronic . 0.0179364 . . . . . . . . . Name\x3d99.766280 1 +1 201341341 TNNT2 C T 161 0.771765 0.7269 . . . . . . . . . intronic . 0.141499 . . . . . . . . 0.7244 Name\x3d96.472642 1 +1 227069677 PSEN2 T C 169 0.735623 0.7630 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7835 synonymous_SNV exonic . 0.755857 . . . . . . . . 0.7801 Name\x3d99.219904 1 +1 227069737 PSEN2 C T 141 0.443291 0.5185 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.5458 synonymous_SNV exonic . 0.494392 . . . . . . . . 0.5388 Name\x3d98.315941 1 +1 227071364 PSEN2 G A 141 0.443291 0.5187 . . . . . . . 0.5468 . intronic . 0.473131 . . . . . . . . 0.5378 . 0 +1 227071377 PSEN2 T C 168 0.624401 0.7604 . . . . . . . 0.7805 . intronic . 0.695211 . . . . . . . . 0.775 . 0 +1 227071383 PSEN2 C T 1 0.0219649 0.0014 . . . . . . . 0.0037 . intronic . 0.0099611 . . . . . . . . 0.0026 . 0 +1 227071449 PSEN2 G A 1 0.0179712 0.0015 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0036 nonsynonymous_SNV exonic . 0.0091267 D . . . B T . . 0.0026 Name\x3d99.143693 1 +1 227071475 PSEN2 C T 1 0.00139776 0.0047 5.492 MedGen:CN169374 not_specified Likely_benign . . . 0.0038 nonsynonymous_SNV exonic . 0.003053 D . . . P D . . 0.0037 Name\x3d99.227454 6 +1 227071525 PSEN2 C T 141 0.443291 0.5191 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.5452 synonymous_SNV exonic . 0.496235 . . . . . . . . 0.5395 Name\x3d99.494062 1 +1 227071564 PSEN2 C T 2 0.000399361 . . . . . . . . 7.361e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d99.338584 5 +1 227073410 PSEN2 G C 169 0.735623 0.7633 . . . . . . . 0.7840 . intronic . 6.5e-06 . . . . . . . . 0.78 . 0 +1 227073420 PSEN2 G A 1 0.000998403 0.0023 . . . . . . . 0.0025 . intronic . 0.0016688 . . . . . . . . 0.0033 . 2 +1 227075920 PSEN2 A G 2 0.00419329 0.0209 . . . . . . . . . intronic . 0.0016365 . . . . . . . . 0.0113 . 0 +1 227075939 PSEN2 C T 4 0.00838658 0.0184 . . . . . . . . . intronic . 0.0174043 . . . . . . . . . . 0 +1 227076653 PSEN2 C G 1 0.000199681 0.0004 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . . 0.0003 synonymous_SNV exonic . 0.0002523 . . . . . . . . 0.0007 Name\x3d99.370835 3 +1 227076671 PSEN2 T C 5 0.0291534 0.0055 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0064 synonymous_SNV exonic . 0.0127941 . . . . . . . . 0.0073 Name\x3d99.319730 1 +1 227078955 PSEN2 T C 169 0.722843 0.7634 . . . . . . . 0.7893 . intronic . 0.741077 . . . . . . . . 0.7797 . 0 +1 227081850 PSEN2 G A 146 0.574081 0.5395 . . . . . . . 0.5714 . intronic . 0.556481 . . . . . . . . 0.5608 . 0 +1 228399482 na C G 143 0.721046 0.6102 . . . . . . . 0.6195 . ncRNA_intronic . 0.576681 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6129 Name\x3d98.339343 0 +1 228399519 OBSCN T A 1 0.00179712 0.0046 3.232 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0074 nonsynonymous_SNV exonic . 0.0034088 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . D T . . 0.0057 Name\x3d98.767242 7 +1 228399671 OBSCN G A 2 0.0245607 0.0016 4.150 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0085769 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . 0.0018 Name\x3d99.227586 3.5 +1 228399766 OBSCN T C 143 0.726238 0.6103 . . . . . . . 0.6251 synonymous_SNV exonic . 0.445602 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6178 Name\x3d98.799616 2 +1 228399799 OBSCN C T 3 0.0507188 0.0477 . . . . . . . 0.0467 synonymous_SNV exonic . 0.0192236 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.037 Name\x3d98.686199 2 +1 228401183 OBSCN G C 1 0.000998403 0.0002 4.903 . . . Name\x3dENSR00000021279|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0004528 D . Name\x3dOREG1850440|N/A|RB1|PAZAR,OREG1507123|N/A|EGR1|PAZAR,OREG1820737|N/A|RBL2|PAZAR . D T . . . Name\x3d99.127294 8 +1 228401329 OBSCN C T 1 0.00339457 0.0066 . . . . Name\x3dENSR00000021279|Promoter . . 0.0144 synonymous_SNV exonic . 0.0032147 . . Name\x3dOREG1820737|N/A|RBL2|PAZAR,OREG1507123|N/A|EGR1|PAZAR . . . . . 0.0074 Name\x3d98.907049 3 +1 228402047 OBSCN A G 143 0.719848 0.6102 . . . . Name\x3dENSR00000021279|Promoter . . 0.6125 synonymous_SNV exonic . 0.0035899 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6095 Name\x3d97.279925 3 +1 228402097 OBSCN C G 1 0.000199681 . 3.698 . . . Name\x3dENSR00000021279|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . . Name\x3d97.294174 7 +1 228402121 OBSCN A G 142 0.719649 0.6108 3.331 . . . Name\x3dENSR00000021279|Promoter . . 0.6122 nonsynonymous_SNV exonic . 0.638129 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . B T . . 0.6065 Name\x3d97.607743 4.5 +1 228402508 OBSCN C T 70 0.275759 0.3886 . . . . . . . 0.4010 synonymous_SNV exonic . 0.339226 . . . . . . . . 0.3900 . 0 +1 228402639 OBSCN C T 1 0.000199681 . . . . . . . . 1.88e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . . 4 +1 228403476 OBSCN C G 1 0.000199681 0.0001 -1.394 . . . . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . Name\x3d95.715202 7.5 +1 228403500 OBSCN A C 1 0.000199681 . 0.728 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . . 6.5 +1 228404198 OBSCN G A 3 0.0535144 0.0462 . . . . . . . 0.0954 synonymous_SNV exonic . 0.0294563 . . . . . . . . 0.0367 Name\x3d95.581921 1 +1 228404305 OBSCN G A 1 0.00279553 0.0086 -0.246 . . . . . . 0.0186 nonsynonymous_SNV exonic . 0.0049935 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0084 . 2.5 +1 228404368 OBSCN G A 1 0.000998403 0.0017 0.297 . . . . . . 0.0074 nonsynonymous_SNV exonic . 0.0014101 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0019 . 4.5 +1 228404668 OBSCN T C 74 0.336462 0.3960 . . . . . . . 0.4056 . intronic . 0.341697 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.3954 . 1 +1 228404901 OBSCN G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . . . 5 +1 228404997 OBSCN C T 6 0.0169728 0.0417 . . . . . . . 0.0403 . intronic . 0.0304783 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.0401 . 1 +1 228407010 OBSCN C T 72 0.285343 0.3852 . . . . . . . 0.4492 . intronic . 0.322253 . . . . . . . . . . 0 +1 228407059 OBSCN G T 5 0.0135783 0.0374 . . . . . . . 0.0372 synonymous_SNV exonic . 0.0252843 . . . . . . . . . . 0 +1 228407260 OBSCN G A 72 0.277157 0.3848 . . . . . . . 0.4159 synonymous_SNV exonic . 0.319084 . . . . . . . . . . 0 +1 228407265 OBSCN G A 1 0.0429313 0.0338 0.971 . . . . . . 0.0363 nonsynonymous_SNV exonic . 0.0318237 . . . . . . . . . . 1.5 +1 228407285 OBSCN C T 2 0.0307508 0.0018 3.265 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.010388 . . . . . . . . . . 1.5 +1 228412106 OBSCN T C 75 0.412141 0.3910 . . . . . . . . . intronic . 0.077347 . . . . . . . . . . 0 +1 228412227 OBSCN T C 75 0.41254 0.3887 . . . . . . . 0.3911 synonymous_SNV exonic . 0.0004722 . . . . . . . . . . 0 +1 228412228 OBSCN G A 73 0.284145 0.3841 2.136 . . . . . . 0.3853 nonsynonymous_SNV exonic . 0.325927 T . . . B D . . . . 0 +1 228412308 OBSCN G A 75 0.41254 0.3940 . . . . . . . 0.3930 synonymous_SNV exonic . 0.394186 . . . . . . . . 0.3925 . 0 +1 228412415 OBSCN C T 1 0.000399361 0.0001 1.038 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002458 T . . . B T . . 0.0002 . 5.5 +1 228431095 OBSCN A G 122 0.616613 0.6897 . . . . . . . 0.6811 synonymous_SNV exonic . 0.640968 . . . . . . . . 0.6828 . 0 +1 228431930 OBSCN C T 122 0.616813 0.6902 . . . . . . . . . intronic . 0.128588 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 1 +1 228432061 OBSCN C T 2 0.000599042 0.0045 . . . . . . . 0.0018 synonymous_SNV exonic . 0.0001423 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 3 +1 228432264 OBSCN A T 11 0.0171725 0.0385 0.066 . . . . . . 0.0430 nonsynonymous_SNV exonic . 0.031345 T . . . B T . . 0.0401 . 1.5 +1 228432323 OBSCN T C 2 0.0832668 0.0034 . . . . . . . . . intronic . 0.0052845 . . . . . . . . 0.0055 . 0 +1 228433171 OBSCN C T 1 0.000798722 0.0005 0.182 . . . . . . 0.0009 nonsynonymous_SNV exonic . 0.0007762 T . . . P T . . 0.0005 . 3.5 +1 228433217 OBSCN A G 122 0.616613 0.6899 . . . . . . . 0.6808 synonymous_SNV exonic . 0.639436 . . . . . . . . 0.6825 . 0 +1 228433346 OBSCN C T 2 0.0587061 0.0029 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0238936 . . . . . . . . 0.0028 . 0 +1 228434395 OBSCN T C 122 0.617612 0.6896 . . . . . . . 0.6809 synonymous_SNV exonic . 0.641861 . . . . . . . . 0.6833 . 0 +1 228434467 OBSCN T C 122 0.66254 0.6904 . . . . . . . 0.6816 synonymous_SNV exonic . 0.658174 . . . . . . . . 0.6824 . 0 +1 228437603 OBSCN T C 122 0.663738 0.6898 . . . . . . . . . intronic . 0.131396 . . . . . . . . . . 0 +1 228437772 OBSCN G A 2 0.0611022 0.0026 . . . . . . . 0.0028 synonymous_SNV exonic . 0.0238613 . . . . . . . . 0.0025 Name\x3d95.088721 1 +1 228444297 OBSCN T G 69 0.159744 0.3405 . . . . . . . . . intronic . 0.0563317 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 2 +1 228444318 OBSCN T G 122 0.617013 0.6893 . . . . . . . 0.6815 . intronic . 0.635128 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . 0.6821 . 1 +1 228444419 OBSCN C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 5 +1 228444565 OBSCN T A 214 1 1 0.030 . . . . . . 1 nonsynonymous_SNV exonic . 0.0050646 T . . . B T . . . . 1.5 +1 228447463 OBSCN G A 2 0.00239617 0.0104 0.355 . . . . . . 0.0136 nonsynonymous_SNV exonic . 0.0078783 T . . . . . . . 0.0110 . 1.5 +1 228447513 OBSCN T G 71 0.296925 0.3845 . . . . . . . 0.3841 . intronic . 0.346076 . . . . . . . . 0.3890 . 0 +1 228447519 OBSCN T A 71 0.296925 0.3846 . . . . . . . 0.3838 . intronic . 0.34519 . . . . . . . . 0.3890 . 0 +1 228451826 OBSCN C T 51 0.30631 0.2998 0.352 . . . . . . 0.2937 nonsynonymous_SNV exonic . 0.279912 T . . . B T . . 0.2810 . 1.5 +1 228451941 OBSCN C T 3 0.00439297 0.0053 . . . . . . . 0.0066 synonymous_SNV exonic . 0.0054527 . . . . . . . . 0.0044 Name\x3d95.455630 7 +1 228452016 OBSCN G C 1 0.00399361 0.0184 -1.319 . . . . . . 0.0190 nonsynonymous_SNV exonic . 0.0134345 T . . . B T . . 0.0195 . 1.5 +1 228452032 OBSCN G A 2 0.0571086 0.0032 3.095 . . . . . . 0.0044 nonsynonymous_SNV exonic . 0.0242106 T . . . P T . . 0.0044 . 1.5 +1 228456294 OBSCN C G 1 0.000399361 . 2.128 . . . . . . 1.918e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.960017 6.5 +1 228456295 OBSCN C G 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.960017 5 +1 228456296 OBSCN A G 1 0.000399361 . 3.369 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . . . D T . . . Name\x3d97.960017 8 +1 228461097 OBSCN C G 3 0.00219649 0.0097 1.035 . . . . . . 0.0081 nonsynonymous_SNV exonic . 0.0049999 T . . . . . . . . Name\x3d96.432207 8.5 +1 228461129 OBSCN A G 125 0.69349 0.7084 -0.541 . . . . . . 0.6992 nonsynonymous_SNV exonic . 0.680023 T . . . . . . . 0.6953 . 1.5 +1 228461187 OBSCN T C 4 0.00958466 0.0201 . . . . . . . 0.0228 synonymous_SNV exonic . 0.0164875 . . . . . . . . 0.0250 . 0 +1 228461408 OBSCN A AGGG 214 0.999201 . . . . . . . . . . intronic . 0.032367 . . . . . . . . . . 0 +1 228461504 OBSCN G A 1 0.00139776 0.0008 0.409 . . . . . . 0.0011 nonsynonymous_SNV exonic . 0.0010608 T . . . D T . . 0.0019 Name\x3d95.629023 3 +1 228461757 OBSCN G A 33 0.206669 0.1770 . . . . . . . 0.1905 . intronic . 0.184163 . . . . . . . 0.002 0.1774 . 0 +1 228462520 OBSCN C T 1 0.00179712 0.0006 . . . . . . . 0.0007 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0002 . 2 +1 228462570 OBSCN C T 1 0.00159744 0.0077 . . . . . . . 0.0104 . intronic . 0.0049223 . . . . . . . . 0.0101 . 0 +1 228463425 OBSCN A G 1 0.00279553 . . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 9.06e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 4 +1 228463433 OBSCN C T 47 0.258786 0.2970 . . . . Name\x3dENSR00000021285|Promoter . . 0.3481 . intronic . 0.129487 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.2507 . 2 +1 228463763 OBSCN G A 1 0.000399361 . . . . . Name\x3dENSR00000021285|Promoter . . 0.0004 . intronic . 3.88e-05 . . Name\x3dOREG1135426|N/A|ZNF263|JASPAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1840839|N/A|RB1|PAZAR,OREG1850441|N/A|RB1|PAZAR . . . . . . . 6 +1 228463774 OBSCN G T 3 0.00279553 0.0067 . . . . Name\x3dENSR00000021285|Promoter . . 0.01 . intronic . 0.0021474 . . Name\x3dOREG1840839|N/A|RB1|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1135426|N/A|ZNF263|JASPAR,OREG1850441|N/A|RB1|PAZAR . . . . . 0.0048 . 8 +1 228464100 OBSCN G A 33 0.207069 0.1768 . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 0.035116 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 2 +1 228464141 OBSCN T G 1 0.000199681 . . . . . Name\x3dENSR00000021285|Promoter . . 1.936e-05 . intronic . 1.29e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.7406 0.61 . . 7 +1 228464248 OBSCN T G 125 0.695487 0.7106 -0.460 . . . Name\x3dENSR00000021285|Promoter . . 0.7018 nonsynonymous_SNV exonic . 0.660729 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6965 Name\x3d96.060850 4.5 +1 228464255 OBSCN T C 3 0.00259585 0.0101 4.777 . . . Name\x3dENSR00000021285|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0068498 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D D . . 0.0109 . 5 +1 228464276 OBSCN T C 125 0.663538 0.7101 -0.742 . . . Name\x3dENSR00000021285|Promoter . . 0.7011 nonsynonymous_SNV exonic . 0.648944 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6960 . 3.5 +1 228464303 OBSCN G T 1 0.00459265 0.0268 1.771 . . . Name\x3dENSR00000021285|Promoter . . 0.0283 nonsynonymous_SNV exonic . 0.0173413 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0278 . 3.5 +1 228464385 OBSCN G A 1 0.000199681 . 3.941 . . . Name\x3dENSR00000021285|Promoter . . 4.08e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D T . . . Name\x3d95.630039 7 +1 228464440 OBSCN C T 1 0.000199681 0.0012 . . . . Name\x3dENSR00000021285|Promoter . . 0.0011 . intronic . 0.0002975 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0005 . 4 +1 228464759 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228464842 OBSCN C G 124 0.69369 0.7040 . . . . . . . 0.7177 . intronic . 0.594837 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.6953 . 1 +1 228464899 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.76e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228464937 OBSCN G A 1 0.000199681 . 0.694 . . . . . . 6.789e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0001 . 6.5 +1 228465346 OBSCN A G 74 0.330072 0.3808 3.591 . . . . . . 0.5264 nonsynonymous_SNV exonic . 0.303961 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . Name\x3d96.173877 3.5 +1 228465370 OBSCN T G 128 0.669529 0.7128 . . . . . . . 0.7387 . intronic . 0.655761 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.0001 0.002 . Name\x3d96.973539 2 +1 228465403 OBSCN G T 11 0.102835 0.0606 . . . . . . . 0.0682 . intronic . 0.0737959 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 1 +1 228465426 OBSCN C T 1 0.000399361 0.0016 . . . . . . . 0.0025 . intronic . 0.0017982 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0030 . 3 +1 228466819 OBSCN C T 11 0.0167732 0.0378 . . . . . . . . . intronic . 0.0058149 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . . . 1 +1 228466843 OBSCN C T 3 0.00499201 0.0108 . . . . . . . 0.0106 . intronic . 0.0077942 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0111 . 1 +1 228466862 OBSCN C T 4 0.0421326 0.0365 . . . . . . . 0.0369 . intronic . 0.038156 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0331 . 1 +1 228467072 OBSCN C G 1 0.00299521 0.0199 . . . . . . . 0.0128 synonymous_SNV exonic . 0.0089197 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0101 . 1 +1 228467095 OBSCN T C 1 0.00219649 0.0080 2.990 . . . . . . 0.0071 nonsynonymous_SNV exonic . 0.0052328 T . Name\x3dOREG1507130|N/A|EGR1|PAZAR . D D . . 0.0089 . 6 +1 228467158 OBSCN G A 1 0.000998403 0.0032 . . . . . . . 0.0024 . intronic . 0.0014165 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0018 . 3 +1 228467642 OBSCN C T 1 0.000599042 . 3.815 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . D T . . 0.0002 . 2 +1 228467711 OBSCN G A 6 0.0836661 0.0222 3.250 . . . . . . 0.0395 nonsynonymous_SNV exonic . 0.0425803 T . . . D T . . 0.0184 . 0 +1 228467969 OBSCN G C 1 0.000998403 0.0012 4.087 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0007503 T . . . P T . . 0.0002 Name\x3d95.194632 4.5 +1 228468179 OBSCN A C 1 0.000199681 0.0004 . . . . . . . 0.0009 . intronic . 0.0003946 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0005 . 3 +1 228468244 OBSCN G A 6 0.113618 0.0227 . . . . . . . 0.0235 synonymous_SNV exonic . 0.0530976 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0183 . 1 +1 228468458 OBSCN G A 54 0.31889 0.3185 1.572 . . . . . . 0.3113 nonsynonymous_SNV exonic . 0.288424 T . . . D T . . 0.2785 . 0 +1 228468566 OBSCN A G 74 0.239816 0.3703 . . . . . . . . . intronic . 0.326802 . . . . . . . . . . 0 +1 228469720 OBSCN G A 1 0.000199681 . 2.733 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D T . . . . 4 +1 228469801 OBSCN G C 8 0.0111821 0.0217 5.043 . . . . . . 0.0217 nonsynonymous_SNV exonic . 0.0150516 T . . . D D . . 0.0219 . 3 +1 228469870 OBSCN C T 6 0.0872604 0.0218 2.777 . . . . . . 0.0225 nonsynonymous_SNV exonic . 0.0446501 T . . . B T . . 0.0178 . 1.5 +1 228469903 OBSCN A T 3 0.0766773 0.0050 11.513 . . . . . . 0.0062 stopgain exonic . 0.0310604 . . . . . . . . 0.0025 . 8 +1 228469904 OBSCN G T 3 0.0766773 0.0050 3.320 . . . . . . 0.0062 nonsynonymous_SNV exonic . 0.0310798 T . . . P D 0.0006 0.052 0.0024 . 0 +1 228470995 OBSCN G T 53 0.318091 0.3179 . . . . Name\x3dENSR00000389191|TF_binding_site . . 0.3786 . intronic . 0.217817 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . 0.2859 . 2 +1 228471028 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.29e-05 . . Name\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR . . . . . . . 5 +1 228471046 OBSCN C T 70 0.147364 0.3324 . . . . . . . . . intronic . 0.268288 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . . . 2 +1 228471379 OBSCN G C 75 0.230232 0.3703 . . . . . . . 0.3724 synonymous_SNV exonic . 0.318256 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.3681 . 2 +1 228473733 OBSCN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 228474422 OBSCN G C 1 0.00219649 0.0081 . . . . . . . . . intronic . 0.001313 . . . . . . . . . . 2 +1 228475715 OBSCN A G 4 0.00559105 0.0175 . . . . . . . 0.0176 . intronic . 0.0120374 . . . . . . . . 0.0157 . 0 +1 228475848 OBSCN G A 53 0.302716 0.3160 4.107 . . . . . . 0.3057 nonsynonymous_SNV exonic . 0.289078 T . . . P T . . 0.2973 . 1.5 +1 228476366 OBSCN G T 6 0.0958466 0.0223 2.734 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.04661 T . . . B T . . 0.0149 . 1.5 +1 228476367 OBSCN A T 6 0.0958466 0.0225 2.116 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0466229 T . . . P T . . 0.0142 . 1.5 +1 228476390 OBSCN G A 1 0.000199681 6.484e-05 . . . . . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . . 4 +1 228476414 OBSCN G A 6 0.0938498 0.0225 . . . . . . . 0.0229 synonymous_SNV exonic . 0.0477355 . . . . . . . . 0.0186 . 0 +1 228476526 OBSCN G A 1 0.000199681 . 5.578 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 +1 228480282 OBSCN A G 134 0.698882 0.7136 . . . . . . . 0.7050 synonymous_SNV exonic . 0.684137 . . . . . . . . 0.7022 . 0 +1 228481116 OBSCN G A 1 0.000199681 . 0.259 . . . . . . 7.372e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 . 5.5 +1 228481382 OBSCN C T 3 0.00459265 0.0184 . . . . . . . . . intronic . 0.0018046 . . . . . . . . . . 0 +1 228481917 OBSCN G A 4 0.00878594 0.0160 . . . . . . . 0.0192 synonymous_SNV exonic . 0.0141589 . . . . . . . . 0.0229 . 0 +1 228482010 OBSCN C T 94 0.381989 0.5198 . . . . . . . 0.4965 synonymous_SNV exonic . 0.430609 . . . . . . . . 0.4953 . 0 +1 228482028 OBSCN G C 34 0.21246 0.1699 . . . . . . . 0.1850 synonymous_SNV exonic . 0.196634 . . . . . . . . 0.1766 Name\x3d95.602941 1 +1 228482059 OBSCN G A 5 0.00798722 0.0358 5.747 . . . . . Name\x3dMIMAT0000510|hsa-miR-320a-3p|Experimental 0.0321 nonsynonymous_SNV exonic . 0.0225612 T . . . D D . . 0.0421 . 4 +1 228482125 OBSCN C T 1 0.000199681 6.486e-05 . . . . . . . 9.201e-05 . intronic . 0.0001164 . . . . . . . . . . 4 +1 228482160 OBSCN C T 1 0.0225639 0.0031 . . . . . . . 0.0021 . intronic . 0.0170761 . . . . . . . . 0.0023 . 0 +1 228482569 OBSCN G A 9 0.0127796 0.0343 . . . . . . . 0.0313 synonymous_SNV exonic . 0.0214874 . . . . . . . . 0.0324 . 0 +1 228482663 OBSCN C A 1 0.000199681 . -0.373 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . . 5.5 +1 228486404 OBSCN C T 31 0.165935 0.1674 0.548 . . . . . . 0.1822 nonsynonymous_SNV exonic . 0.17633 T . . . . . . . 0.1788 . 1.5 +1 228487165 OBSCN C T 1 0.000599042 6.487e-05 . . . . . . . 5.528e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . . 2 +1 228491633 OBSCN G A 5 0.052516 0.0373 0.427 . . . . . . 0.0392 nonsynonymous_SNV exonic . 0.0433759 T . . . . . . . 0.0397 . 1.5 +1 228492044 OBSCN G A 97 0.369209 0.5205 . . . . . . . 0.4992 synonymous_SNV exonic . 0.427582 . . . . . . . . 0.4905 . 0 +1 228492061 OBSCN C T 1 0.000199681 6.488e-05 0.464 . . . . . . 7.421e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . . D . . . . 4 +1 228492125 OBSCN C T 1 0.000798722 0.0059 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0025226 . . . . . . . . 0.0058 . 2 +1 228492220 OBSCN C T 4 0.00539137 0.0176 2.422 . . . . . . 0.0178 nonsynonymous_SNV exonic . 0.0123349 T . . . . . . . 0.0158 . 1.5 +1 228494070 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.9998 0.9 . . 5 +1 228494209 OBSCN T C 1 0.000599042 0.0010 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0010 . 2 +1 228494346 OBSCN T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0005905|hsa-miR-1254|Experimental . . intronic . 6.5e-06 . . . . . . . . . . 5 +1 228494357 OBSCN C T 31 0.166733 0.1684 . . . . . . . 0.1903 . intronic . 0.172216 . . . . . . . . 0.1716 . 0 +1 228494382 OBSCN T C,G 31 0.383387 0.5210 . . . . . . . 0.5092 . intronic . 0.401159 . . . . . . . . 0.6220 . 0 +1 228494394 OBSCN C T 1 0.00239617 0.0060 . . . . . . . . . intronic . 0.0037268 . . . . . . . . . . 2 +1 228494552 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228494696 OBSCN G A 37 0.308506 0.1927 . . . . . . . 0.2696 synonymous_SNV exonic . 0.239111 . . . . . . . . 0.1945 . 0 +1 228494790 OBSCN G A 97 0.26857 0.5198 2.944 . . . . . . 0.4980 nonsynonymous_SNV exonic . 0.393889 T . . . P T . . 0.4939 . 1.5 +1 228496014 OBSCN G A 31 0.213059 0.1706 . . . . . . . 0.2182 synonymous_SNV exonic . 0.192514 . . . . . . . . 0.1772 . 0 +1 228497053 OBSCN A G 134 0.698682 0.7142 . . . . . . . . . intronic . 0.135723 . . . . . . . . . . 0 +1 228497066 OBSCN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228497286 OBSCN C A 6 0.0932508 0.0225 . . . . . . . 0.0230 . intronic . 0.0477484 . . . . . . . . 0.0188 . 0 +1 228503677 OBSCN A G 134 0.700879 0.7134 -2.279 . . . . . . 0.7121 nonsynonymous_SNV exonic . 0.63267 T . . . B T . . 0.7056 . 1.5 +1 228503711 OBSCN G A 2 0.0129792 0.0431 . . . . . . . 0.0522 synonymous_SNV exonic . 0.0229945 . . . . . . . . 0.0327 Name\x3d95.031577 1 +1 228503798 OBSCN G A 1 0.000399361 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.12e-05 . . . . . . . . . . 4 +1 228504373 OBSCN G A 1 0.000199681 6.494e-05 . . . . . . . 2.517e-05 . intronic . 3.23e-05 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 5 +1 228504472 OBSCN T C 134 0.699281 0.7136 -1.304 . . . . . . 0.7063 nonsynonymous_SNV exonic . 0.659759 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7008 . 2.5 +1 228504507 OBSCN G T 4 0.00499201 0.0174 . . . . . . . 0.0265 synonymous_SNV exonic . 0.0137385 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0203 . 1 +1 228504591 OBSCN C A 31 0.145367 0.1683 1.476 . . . . . . 0.2717 nonsynonymous_SNV exonic . 0.142967 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D T . . 0.1672 . 1 +1 228504669 OBSCN G A 31 0.145567 0.1727 . . . . . . . 0.2176 synonymous_SNV exonic . 0.0800054 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.1453 . 1 +1 228504670 OBSCN C T 97 0.330272 0.5220 3.693 . . . . . . 0.4984 nonsynonymous_SNV exonic . 0.207882 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.4398 . 2.5 +1 228504701 OBSCN G GCTCC 134 0.699081 0.7119 . . . . . . . 0.7038 . intronic . 0.0302066 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.6286 . 1 +1 228505204 OBSCN G A 37 0.315296 0.1926 3.357 . . . . . . 0.2105 nonsynonymous_SNV exonic . 0.242164 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . P D . . 0.1944 . 1 +1 228505518 OBSCN C T 1 0.00159744 0.0056 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 3 +1 228505668 OBSCN C G 134 0.699281 0.7136 0.755 . . . . . . 0.7049 nonsynonymous_SNV exonic . 0.684881 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7016 . 2.5 +1 228505699 OBSCN T C 134 0.705871 0.7135 . . . . . . . 0.7061 synonymous_SNV exonic . 0.004172 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.7008 . 1 +1 228505725 OBSCN A C 1 0.000399361 0.0005 3.123 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0009638 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D D . . 0.0009 . 6 +1 228505727 OBSCN C T 6 0.086262 0.0223 2.382 . . . . . . 0.0230 nonsynonymous_SNV exonic . 0.0456721 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B D . . 0.0186 . 1 +1 228505739 OBSCN G A 31 0.173123 0.1683 0.313 . . . . . . 0.1817 nonsynonymous_SNV exonic . 0.17992 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.1735 . 2.5 +1 228505925 OBSCN G A 4 0.00519169 0.0174 . . . . . . . . . intronic . 0.0021086 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0148 . 1 +1 228506661 OBSCN G A 6 0.0107827 0.0185 . . . . . . . 0.0695 synonymous_SNV exonic . 0.0139196 . . . . . . . . 0.0230 . 0 +1 228506768 OBSCN C T 1 0.000199681 0.0007 1.693 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002329 T . . . B T . . 0.0005 . 3.5 +1 228506965 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 228509367 OBSCN G A 1 0.000199681 6.482e-05 6.644 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0002005 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.0002 . 5 +1 228509427 OBSCN A G 134 0.684704 0.7137 -0.311 . . . . . . 0.7041 nonsynonymous_SNV exonic . 0.678102 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.6968 . 2.5 +1 228511197 OBSCN G A 1 0.000199681 . 5.134 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d95.039834 8 +1 228511240 OBSCN C T 1 0.000199681 6.485e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0002 Name\x3d95.667258 5 +1 228520538 OBSCN C T 1 0.000199681 0.0010 . . . . . . . 0.0015 . intronic . 0.0008667 . . . . . . . . 0.0013 . 2 +1 228520880 OBSCN C T 86 0.341853 0.4468 . . . . . . . 0.4582 . intronic . 0.320293 . . . . . . . . 0.4158 . 0 +1 228520973 OBSCN C G 86 0.335064 0.4465 1.995 . . . . . . 0.4687 nonsynonymous_SNV exonic . 0.282719 T . . . B T . . 0.4179 . 1.5 +1 228521002 OBSCN C A 1 0.000399361 0.0012 . . . . . . . 0.0040 synonymous_SNV exonic . 0.0005886 . . . . . . . . 0.0010 Name\x3d96.076251 3 +1 228522357 OBSCN G A 11 0.00938498 0.0228 . . . . . . . . . intronic . 0.019018 . . . . . . . . . . 0 +1 228522483 OBSCN C T 5 0.034345 0.0370 . . . . . . . 0.0498 . intronic . 0.0188807 . . . . . . . . 0.0328 . 0 +1 228522509 OBSCN C A 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.94e-05 . . . . . . 0.0045 0.144 . . 4 +1 228523005 OBSCN T TG 100 0.469449 0.6602 . . . . . . . 0.4422 . intronic . 0.0016947 . . . . . . . . 0.4253 . 0 +1 228523042 OBSCN T G,TG 100 0.344449 0.5166 . . . . . . . . . intronic . 0.0018499 . . . . . . . . 0.4471 . 0 +1 228523412 OBSCN G A 17 0.126797 0.0953 . . . . . . . . . intronic . 0.0182921 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . . . 1 +1 228523442 OBSCN T C 103 0.478435 0.5398 . . . . . . . 0.5191 . intronic . 0.466288 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.5171 . 1 +1 228523447 OBSCN T C 175 0.813498 0.8291 . . . . . . . 0.8269 . intronic . 0.0071797 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.8251 . 1 +1 228523448 OBSCN G A 86 0.352636 0.4443 . . . . . . . 0.4258 . intronic . 0.347027 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.3968 . 1 +1 228523596 OBSCN G A 3 0.000998403 6.482e-05 . . . . . . . 0.0002 . intronic . 0.0001488 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.0001 . 7 +1 228523618 OBSCN G A 103 0.474241 0.5422 . . . . . . . . . intronic . 0.0982976 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.5195 . 1 +1 228523866 OBSCN C G 2 0.00119808 0.0023 . . . . . . . 0.0047 . intronic . 0.002859 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.0031 . 3 +1 228524642 OBSCN T C 5 0.0353435 0.0373 . . . . . . . . . intronic . 0.0057761 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 1 +1 228524671 OBSCN C T 1 0.000199681 0.0008 . . . . . . . 0.0013 . intronic . 0.0003169 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.0008 . 3 +1 228524919 OBSCN G A 86 0.240016 0.4458 . . . . . . . 0.4284 . intronic . 0.348902 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4207 . 1 +1 228524961 OBSCN C A 86 0.239816 0.4461 . . . . . . . 0.4304 synonymous_SNV exonic . 0.346296 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4226 . 1 +1 228525008 OBSCN G A 25 0.0766773 0.1307 4.879 . . . . . . 0.1512 nonsynonymous_SNV exonic . 0.117198 T . Name\x3dOREG1507125|N/A|EGR1|PAZAR . B D . . 0.1356 . 2 +1 228525627 OBSCN C A 86 0.240216 0.4444 . . . . . . . 0.4571 . intronic . 0.337945 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4221 . 1 +1 228525689 OBSCN G A 1 0.000199681 0.0001 . . . . . . . 8.063e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 5 +1 228525799 OBSCN C A 1 0.000199681 . 16.481 . . . . . . 1.968e-05 stopgain exonic . 1.29e-05 . . . . . . . . . . 12 +1 228525823 OBSCN C T 1 0.000998403 0.0005 6.985 . . . . . . 0.0004 nonsynonymous_SNV exonic rs2760061|Cardiovascular-disease||1E-9|PMID:30595370 0.0004269 T . . . D D . . 0.0004 . 5 +1 228525898 OBSCN C G 103 0.538339 0.5457 . . . . . . . . . intronic . 0.521746 . . . . . . . . . . 0 +1 228526011 OBSCN C T 25 0.117612 0.1546 . . . . . . . 0.1765 synonymous_SNV exonic . 0.130121 . . . . . . . . 0.1578 . 0 +1 228526486 OBSCN G A 86 0.228435 0.4454 . . . . Name\x3dENSR00000389203|TF_binding_site . . . . intronic . 0.0609371 . . . . . . . . . . 1 +1 228526578 OBSCN T A 3 0.00439297 0.0107 4.894 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0142 nonsynonymous_SNV exonic . 0.0037451 T . . . P T . . 0.0095 Name\x3d96.249129 3.5 +1 228526653 OBSCN C A 1 0.00119808 0.0007 1.750 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0011 nonsynonymous_SNV exonic . 0.0005369 T . . . B T . . 0.0015 . 4.5 +1 228526665 OBSCN T C 103 0.494409 0.5435 . . . . . . . 0.5246 synonymous_SNV exonic . 0.214577 . . . . . . . . 0.5569 . 0 +1 228527685 OBSCN C T 3 0.00259585 0.0067 . MedGen:CN517202 not_provided Benign Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0056 synonymous_SNV exonic . 0.004269 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0065 Name\x3d95.167062 9 +1 228527749 OBSCN C T 1 0.00858626 0.0007 7.261 . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0012 nonsynonymous_SNV exonic . 0.0031759 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0018 Name\x3d95.539750 8 +1 228527758 OBSCN G C 1 0.000399361 0.0003 6.172 . . . Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0006 nonsynonymous_SNV exonic . 0.0004204 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0004 Name\x3d95.112814 8 +1 228527844 OBSCN T G 5 0.0297524 0.0358 . . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0427 . intronic . 0.0286607 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0352 . 2 +1 228528412 OBSCN G A 86 0.351837 0.4467 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.4378 . intronic . 0.371625 . . . . . . . . 0.4247 . 1 +1 228528563 OBSCN C G 103 0.538738 0.5462 0.194 . . . Name\x3dENSR00000021290|TF_binding_site . . 0.5592 nonsynonymous_SNV exonic . 0.464489 T . . . B T . . 0.5203 Name\x3d95.313182 3.5 +1 228528752 OBSCN A G 1 0.000199681 . . . . . Name\x3dENSR00000021290|TF_binding_site . . 9.071e-05 . intronic . 0.0001876 . . . . . . . . . . 5 +1 228529129 OBSCN C A 17 0.138179 0.1048 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.1113 . intronic . 0.118776 . . . . . . 0.0005 0.1 0.0945 . 1 +1 228538470 OBSCN C G 17 0.147764 0.0982 . . . . . . . . . intronic . 0.0207177 . . . . . . . . . . 0 +1 228538568 OBSCN C G 1 0.00119808 0.0022 5.894 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0023932 T . . . D D . . 0.0041 . 5 +1 228538635 OBSCN C T 1 0.000798722 0.0009 6.415 . . . . . . 0.0008 nonsynonymous_SNV exonic . 0.0005951 D . . . D D . . 0.0006 . 8 +1 228538968 OBSCN C T 24 0.139577 0.1351 . . . . . . . . . intronic . 0.0215456 . . . . . . . . . . 0 +1 228538982 OBSCN G T 2 0.00379393 0.0055 . . . . . . . 0.0066 . intronic . 0.0029366 . . . . . . . . 0.0046 . 2 +1 228539034 OBSCN C T 1 0.000399361 0.0014 . . . . . . . 0.0034 synonymous_SNV exonic . 0.0006727 . . . . . . . . 0.0012 . 2 +1 228543800 OBSCN C T 17 0.172125 0.0985 . . . . . . . . . intronic . 0.0224577 . . . . . . . . 0.0899 . 0 +1 228547256 OBSCN G A 17 0.147564 0.0974 . . . . . . . 0.1400 . intronic . 0.0848954 . . . . . . . . 0.0836 . 0 +1 228547769 OBSCN C T 3 0.00479233 0.0110 . . . . . . . 0.0182 synonymous_SNV exonic . 0.0066623 . . . . . . . . 0.0106 . 0 +1 228547901 OBSCN C T 82 0.298722 0.2856 . . . . . . . 0.2952 synonymous_SNV exonic . 0.303088 . . . . . . . . 0.3011 . 0 +1 228548029 OBSCN C A 2 0.000399361 . 2.012 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B D . . . . 4 +1 228548094 OBSCN C G 1 0.000199681 . 2.418 . . . . . . 1.873e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 7 +1 228548129 OBSCN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 4 +1 228548197 OBSCN G A 17 0.147764 0.0970 -0.089 . . . . . . 0.1004 nonsynonymous_SNV exonic . 0.114714 T . . . B T . . 0.0857 . 1.5 +1 228548257 OBSCN G C 1 0.000199681 . -0.317 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . . 5.5 +1 228548360 OBSCN G A 3 0.00199681 0.0055 . . . . . . . 0.0045 synonymous_SNV exonic . 0.0032212 . . . . . . . . 0.0055 . 6 +1 228550344 OBSCN G A 1 0.000199681 0.0006 . . . . . . . 0.0008 synonymous_SNV exonic . 0.000511 . . . . . . . . 0.0007 . 2 +1 228550426 OBSCN C T 17 0.146965 0.0970 -0.124 . . . . . . 0.1424 nonsynonymous_SNV exonic . 0.1054 T . . . B T . . 0.0834 . 1.5 +1 228550429 OBSCN C T 5 0.0443291 0.0359 0.627 . . . . . . 0.0643 nonsynonymous_SNV exonic . 0.0342557 T . . . B T . . 0.0362 . 1.5 +1 228552618 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228554767 OBSCN G A 1 0.000199681 . 1.354 . . . . . . 3.06e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . . 5.5 +1 228556014 OBSCN C T 1 0.00159744 0.0011 . . . . . . . 0.0028 . intronic . 0.0011643 . . Name\x3dOREG1721719|N/A|HNF4A|PAZAR,OREG1745725|N/A|HNF4A|PAZAR . . . . . 0.0011 . 3 +1 228556403 OBSCN C T 17 0.125599 0.0975 . . . . . . . 0.0951 . intronic . 0.106493 . . . . . . . . 0.0859 . 0 +1 228556788 OBSCN C T 83 0.320487 0.3617 . . . . . . . 0.3907 . intronic . 0.326147 . . . . . . . . 0.3585 . 0 +1 228556986 OBSCN G C 1 0.000599042 0.0008 . . . . . . . . . intronic . 0.0009989 . . Name\x3dOREG1622171|N/A|FOS|PAZAR . . . . . . . 3 +1 228557755 OBSCN G A 1 0.00239617 0.0027 5.942 . . . Name\x3dENSR00000938301|Enhancer,ENSR00000938274|Enhancer . . 0.0027 nonsynonymous_SNV exonic . 0.0020828 T . . . D D . . 0.0012 . 6 +1 228557980 OBSCN T C 1 0.00199681 0.0012 . . . . . . . 0.0007 . intronic . 0.000925 . . . . . . . . 0.0010 . 2 +1 228558307 OBSCN T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228558389 OBSCN C T 1 0.000199681 . 4.526 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . . 7 +1 228558817 OBSCN C T 1 0.000399361 . 6.323 . . . . . . 1.859e-05 nonsynonymous_SNV exonic . 9.06e-05 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . . . 8 +1 228558892 OBSCN C T 12 0.033746 0.0722 6.518 . . . . . . 0.0770 nonsynonymous_SNV exonic . 0.0549087 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . 0.0650 . 4 +1 228558952 OBSCN T G 2 0.00219649 0.0123 2.292 . . . . . . 0.0163 nonsynonymous_SNV exonic . 0.0063324 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . P D . . 0.0103 Name\x3d95.025643 2 +1 228558992 OBSCN CCA C 2 0.00199681 0.0088 . . . . . . . 0.0094 frameshift_deletion exonic . 0.0022768 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . 0.0038 . 11 +1 228559008 OBSCN C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . . . 5 +1 228559430 OBSCN G A 7 0.0217652 0.0376 -0.220 . . . . . . 0.0368 nonsynonymous_SNV exonic . 0.0289453 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0309 . 2.5 +1 228559450 OBSCN G A 2 0.00199681 0.0100 -0.731 . . . . . . 0.0109 nonsynonymous_SNV exonic . 0.0061901 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0077 . 2.5 +1 228559654 OBSCN G A 5 0.00499201 0.0111 1.765 . . . . . . 0.0153 nonsynonymous_SNV exonic . 0.0099287 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0152 . 2.5 +1 228559967 OBSCN C T 4 0.00499201 0.0109 2.939 . . . . . . 0.0357 nonsynonymous_SNV exonic . 0.0090102 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . P D . . 0.0136 . 1 +1 228559994 OBSCN C T 99 0.589058 0.5001 2.792 . . . . . . 0.6059 nonsynonymous_SNV exonic . 0.457226 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B T . . 0.5033 . 3.5 +1 228560034 OBSCN C T 1 0.013778 0.0008 . . . . . . . 0.0019 synonymous_SNV exonic . 0.0042626 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0005 . 1 +1 228560139 OBSCN A G 187 0.974241 0.9212 . . . . . . . 0.9241 synonymous_SNV exonic . 0.816445 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.9259 Name\x3d95.502104 2 +1 228560251 OBSCN G C 1 0.000199681 . 2.276 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B D . . . . 5 +1 228560700 OBSCN T C 124 0.757987 0.5373 . . . . . . . 0.5552 synonymous_SNV exonic . 0.559029 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.5485 . 1 +1 228561779 OBSCN C T 1 0.00179712 0.0085 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 3 +1 228562350 OBSCN T C 1 0.00519169 0.0278 . . . . . . . 0.0255 synonymous_SNV exonic . 0.0183051 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0280 Name\x3d95.305033 2 +1 228562523 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228563558 OBSCN C A 1 0.000599042 0.0015 . . . . . . . 0.0012 . intronic . 0.0008473 . . . . . . . . 0.0011 . 2 +1 228563748 OBSCN G A 1 0.000599042 0.0001 6.122 . . . . . . 0.0001 nonsynonymous_SNV exonic . 0.0003428 T . . . P D . . . Name\x3d96.913305 6 +1 228564757 OBSCN C T 1 0.00878594 0.0003 6.283 . . . . . . 0.0013 nonsynonymous_SNV exonic . 0.0048059 T . . . D D . . 0.0004 . 5 +1 228564796 OBSCN G A 1 0.000199681 . 4.260 . . . . . . 7.476e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . . 4 +1 228564884 OBSCN G A 17 0.140775 0.0993 1.749 . . . . . . 0.1456 nonsynonymous_SNV exonic . 0.101926 T . . . B T . . 0.0847 . 1.5 +1 228565208 OBSCN C T 2 0.0117812 0.0428 . . . . . . . 0.0430 synonymous_SNV exonic . 0.0264744 . . . . . . . . 0.0354 . 0 +1 228565209 OBSCN G A 1 0.00179712 0.0004 7.258 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0011513 T . . . D D . . 0.0010 . 5 +1 228565255 OBSCN T C 1 0.000199681 . 5.069 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 +1 228565311 OBSCN G A 1 0.000199681 6.49e-05 6.702 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001423 T . . . D D . . 0.0001 Name\x3d95.017004 8 +1 228565329 OBSCN G A 4 0.00499201 0.0178 3.334 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0152197 T . . . B T . . 0.0231 Name\x3d95.583646 2.5 +1 228565445 OBSCN C A 17 0.124201 0.0975 . . . . . . . 0.1002 . intronic . 0.104604 . . . . . . . . 0.0852 . 0 +1 228565556 OBSCN T G 3 0.00479233 0.0108 . . . . . . . . . intronic . 0.0013777 . . . . . . . . . . 0 +1 228565826 OBSCN T C 2 0.00279553 0.0164 . . . . . . . . . intronic . 0.010604 . . . . . . . . . . 0 +1 228566528 OBSCN G A 1 0.000199681 . . . . . . . . 2.218e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 4 +1 229567663 ACTA1 C GG 43 . . . MedGen:CN169374 not_specified Benign . . . . . intronic . 0.0005627 . . . . . . . . . Name\x3d99.559150 11 +1 229567683 ACTA1 TC T 43 0.209465 0.1611 . MedGen:CN169374 not_specified Benign . . . 0.1561 . intronic . 0.0049223 . . . . . . . . 0.1609 Name\x3d99.586072 1 +1 229567826 ACTA1 G A 1 0.000199681 6.488e-05 . . . . . . . 9.425e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.939397 5 +1 229568231 ACTA1 T G 213 0.999002 0.9994 . . . . Name\x3dENSR00000938431|Promoter . . . . intronic . 0.0001423 . . . . . . . . . Name\x3d98.588790 2 +1 229568300 ACTA1 C A 1 0.000199681 0.0001 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion Uncertain_significance Name\x3dENSR00000938431|Promoter . . 5.89e-05 . intronic . 3.88e-05 . . . . . . 0.6445 0.462 0.0002 Name\x3d99.849690 6.5 +1 229568632 ACTA1 A G 44 0.273962 0.1623 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1806 . intronic . 0.204376 . . . . . . . 0.024 0.1807 Name\x3d99.613966 4 +1 229568637 ACTA1 C G 44 0.211861 0.1605 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1768 . intronic . 0.183335 . . . . . . . 0.086 0.1751 Name\x3d99.613966 4 +1 236849952 ACTN2 C T 11 0.0115815 0.0316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000022391|Promoter . . 0.0376 . UTR5 . 0.0243076 . . Name\x3dOREG1497882|N/A|EGR1|PAZAR . . . . . 0.0399 Name\x3d99.706106 3 +1 236849999 ACTN2 A G 1 0.000599042 0.0014 1.768 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000022391|Promoter . . 0.0010 nonsynonymous_SNV exonic . 0.0006921 T . Name\x3dOREG1497882|N/A|EGR1|PAZAR . B T . . 0.0008 Name\x3d99.831313 6.5 +1 236881185 ACTN2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.696288 5 +1 236882303 ACTN2 T C 214 0.992612 1 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.95645 . . . . . . . . 0.9998 Name\x3d99.683489 1 +1 236883421 ACTN2 C T 214 0.920727 0.9946 . MedGen:CN169374 not_specified Benign . . . 0.9955 synonymous_SNV exonic . 0.949224 . . . . . . . . 0.9953 Name\x3d99.617908 1 +1 236883564 ACTN2 G A 214 0.922324 0.9946 . . . . . . . . . intronic . 0.186459 . . . . . . . . . Name\x3d96.650803 1 +1 236883585 ACTN2 T G 4 0.00179712 0.0071 . . . . . . . . . intronic . 0.001009 . . . . . . . . . Name\x3d95.772872 7 +1 236894647 ACTN2 G A 69 0.491613 0.2910 . . . . . . . 0.3119 . intronic . 0.375403 . . . . . . . . 0.3102 Name\x3d95.564112 1 +1 236894667 ACTN2 G A 1 0.000199681 0.0003 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . 0.0006 . 2 +1 236899042 ACTN2 G A 25 0.195887 0.1255 . MedGen:CN169374 not_specified Benign . . . 0.1382 . intronic . 0.15646 . . . . . . . . 0.1356 Name\x3d98.899984 1 +1 236900334 ACTN2 C T 4 0.00119808 0.0014 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 6 +1 236900554 ACTN2 C T 4 0.00539137 0.0227 . . . . . . . 0.0226 . intronic . 0.0153879 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . 0.0266 Name\x3d99.362508 2 +1 236900598 ACTN2 C T 158 0.531949 0.5332 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . . . 1 +1 236902532 ACTN2 ATT A 8 0.0509185 0.0602 . . . . . . . . . intronic . 0.0096819 . . . . . . . . . . 0 +1 236902560 ACTN2 C G,T 8 0.372404 0.6298 . . . . . . . 0.5992 . intronic . 0.500272 . . . . . . . . 0.6395 . 0 +1 236902594 ACTN2 C G 172 0.767572 0.7883 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7758 . intronic . 0.763173 . . . . . . 0.3121 . 0.7763 Name\x3d99.688691 1 +1 236902865 ACTN2 A C 134 0.422724 0.6814 . . . . . . . 0.6662 . intronic . 0.559702 . . . . . . . . 0.6570 . 0 +1 236907966 ACTN2 G A 3 0.0347444 0.0112 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0107 synonymous_SNV exonic . 0.0180399 . . . . . . . . 0.0144 Name\x3d99.379015 1 +1 236908011 ACTN2 C T 1 0.000399361 0.0024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0037 synonymous_SNV exonic . 0.002348 . . . . . . . . 0.0042 Name\x3d99.802534 3 +1 236908053 ACTN2 C T 1 0.000998403 0.0014 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0009767 . . . . . . . . 0.0019 Name\x3d99.745310 3 +1 236908144 ACTN2 T C 3 0.0189696 0.0106 . . . . . . . . . intronic . 0.0026714 . . . . . . . . . . 0 +1 236911045 ACTN2 G A 1 0.000199681 6.481e-05 . MedGen:CN169374 not_specified Likely_benign . . . 7.559e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.633162 5 +1 236911122 ACTN2 C T 7 0.0782748 0.0384 . . . . . . . 0.0418 . intronic . 0.0524767 . . . . . . . . 0.0324 Name\x3d98.527607 1 +1 236911137 ACTN2 A G 19 0.10623 0.0648 . . . . . . . . . intronic . 0.0167398 . . . . . . . . . Name\x3d96.490998 1 +1 236912597 ACTN2 A G 25 0.189896 0.0945 . . . . . . . 0.1043 . intronic . 0.137657 . . . . . . . . 0.1073 . 0 +1 236912622 ACTN2 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +1 236914738 ACTN2 ATTGT A 6 0.0145767 0.0295 . . . . . . . 0.0324 . intronic . 0.0007891 . . . . . . . . 0.0320 Name\x3d98.696720,99.003311 1 +1 236914754 ACTN2 T C 4 0.00119808 0.0013 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign . . . 0.0018 . intronic . 0.0011643 . . . . . . . . 0.0014 Name\x3d99.462539 7 +1 236914923 ACTN2 A G 1 0.0195687 0.0003 0.771 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0057244 T . . . B T . . 0.0014 Name\x3d99.909309 2.5 +1 236920782 ACTN2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.8759 0.846 . Name\x3d99.564547 6 +1 236920960 ACTN2 A G 1 0.0215655 0.0004 . . . . . . . 0.0005 . intronic . 0.0064682 . . . . . . . . 0.0015 Name\x3d98.702438 1 +1 236923197 ACTN2 C T 25 0.0664936 0.0629 . . . . . . . . . intronic . 0.01293 . . . . . . . . . Name\x3d97.679730 1 +1 236924506 ACTN2 A G 188 0.798123 0.8953 . . . . . . . 0.8871 . intronic . 0.843572 . . . . . . . . 0.8909 Name\x3d95.962402 1 +1 236925844 ACTN2 G A 32 0.196086 0.1434 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000939231|TF_binding_site . . 0.1441 synonymous_SNV exonic . 0.164118 . . . . . . . . 0.1392 Name\x3d99.699444 2 +1 237205759 RYR2 G T 1 0.000599042 0.0005 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance Name\x3dENSR00000022413|Promoter . . . . UTR5 . 0.0001153 . . . . . . . . . Name\x3d97.442588 4 +1 237205892 RYR2 G A 1 0.000998403 0.0021 . . . . Name\x3dENSR00000022413|Promoter . . 0.0023 . intronic . 0.0006274 . . . . . . . . 0.0016 Name\x3d99.662651 4 +1 237519165 RYR2 G T 53 0.186901 0.2223 . . . . . . . . . intronic . 0.0393527 . . . . . . . . . Name\x3d98.947334 1 +1 237527551 RYR2 A G 8 0.0103834 0.0183 . . . . . . . . . intronic . 0.00326 . . . . . . . . . Name\x3d97.889333 1 +1 237532763 RYR2 T G 3 0.0189696 0.0414 . . . . . . . . . intronic . 0.0057955 . . . . . . . . . . 0 +1 237532860 RYR2 A G 1 0.000199681 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0001 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.910213 5 +1 237532996 RYR2 G A 2 0.000399361 0.0001 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d95.744476 5 +1 237540615 RYR2 A C 55 0.362819 0.2506 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.2500 . intronic . 0.282719 . . . . . . . 0.002 0.2293 Name\x3d99.244447 1 +1 237551298 RYR2 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.869764 5 +1 237551376 RYR2 T A 120 0.55651 0.5469 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5723 . intronic . 0.558725 . . . . . . 0.0001 0.008 0.5597 Name\x3d95.787306 1 +1 237586384 RYR2 T C 24 0.170128 0.0876 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.1022 . intronic . 0.13527 . . . . . . 0.0001 0.006 0.0985 Name\x3d99.727925 1 +1 237586449 RYR2 A T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.890199 5 +1 237608663 RYR2 A G 2 0.000399361 6.486e-05 . . . . . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0004 . 4 +1 237608842 RYR2 C T 3 0.00658946 0.0075 . MedGen:CN169374 not_specified Benign . . . 0.0073 . intronic . 0.0078718 . . . . . . . . 0.0060 Name\x3d96.417798 7 +1 237617757 RYR2 C T 125 0.535743 0.5983 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.5917 synonymous_SNV exonic . 0.569876 . . . . . . . . 0.6005 Name\x3d99.695180 1 +1 237619875 RYR2 ATT ATTT,ATTTT,AT,A 125 0.0127796 0.0006 . . . . . . . 0.0166 . intronic . 0.000414 . . . . . . . . . Name\x3d95.923485 1 +1 237619971 RYR2 T C 2 0.000399361 0.0008 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0004398 . . . . . . . . 0.0010 Name\x3d99.524418 3 +1 237620049 RYR2 T C 118 0.53115 0.5515 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5456 . intronic . 0.542658 . . . . . . . . 0.5441 Name\x3d99.072911 1 +1 237620108 RYR2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237632512 RYR2 T C 1 0.00299521 0.0079 . . . . . . . 0.0081 . intronic . 0.0050581 . . . . . . . . 0.0092 . 2 +1 237632514 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237655057 RYR2 C T 1 0.00139776 0.0015 . . . . . . . 0.0013 . intronic . 0.0006015 . . . . . . . . 0.0022 Name\x3d95.435834 3 +1 237655173 RYR2 A T 8 0.0215655 0.0228 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0403 synonymous_SNV exonic . 0.0136544 . . . . . . . . 0.0180 Name\x3d99.835212 1 +1 237655267 RYR2 T C 6 0.00399361 0.0129 . . . . . . . 0.0142 . intronic . 0.0043984 . . . . . . . . 0.0049 Name\x3d95.462747 1 +1 237656185 RYR2 A G 80 0.396565 9.889e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237656289 RYR2 C T 2 0.00219649 0.0055 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0132 synonymous_SNV exonic . 0.0048124 . . . . . . . . 0.0083 Name\x3d99.931995 1 +1 237664004 RYR2 C G 5 0.00459265 0.0180 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0121 . intronic . 0.0090555 . . . . . . 0.0039 0.1 0.0124 Name\x3d99.334388 1 +1 237670140 RYR2 A G 143 0.699481 0.6675 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000939271|Enhancer . . 0.6666 . intronic . 0.653497 . . . . . . . . 0.6578 Name\x3d99.757939 2 +1 237670190 RYR2 C T 1 0.00119808 6.484e-05 . . . . Name\x3dENSR00000939271|Enhancer . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d98.734137 4 +1 237675150 RYR2 A AG 55 0.343251 0.1630 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 +1 237675152 RYR2 A C 1 0.00239617 0.0080 . . . . . . . . . intronic . 0.0020363 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 3 +1 237675163 RYR2 G A 81 0.295327 0.4259 . . . . . . . . . intronic . 0.3502 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 +1 237693662 RYR2 C T 3 0.0323482 0.0096 . . . . . . . . . intronic . 0.0004995 . . . . . . . . . . 0 +1 237711797 RYR2 A G 201 0.830272 0.9564 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9592 synonymous_SNV exonic . 0.908384 . . . . . . . . 0.9585 Name\x3d99.734657 1 +1 237730059 RYR2 C T 1 0.00239617 0.0143 2.658 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0112 nonsynonymous_SNV exonic . 0.0074579 T . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . B T . . 0.0130 Name\x3d99.926699 3.5 +1 237730124 RYR2 A G 205 0.905551 0.9705 . MedGen:CN169374 not_specified Benign . . . 0.9734 . intronic . 0.932155 . . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . . . . . 0.9754 . 1 +1 237732395 RYR2 G A 150 0.492812 0.7082 . MedGen:CN169374 not_specified Benign . . . 0.7160 . intronic . 0.621635 . . . . . . . . 0.7105 Name\x3d96.925715 1 +1 237732617 RYR2 A G 1 0.000199681 . 4.237 MedGen:CN169374 not_specified Uncertain_significance . . . 2.081e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D 0.3523 0.482 . Name\x3d99.870532 5 +1 237732673 RYR2 C T 1 0.0197684 0.0506 . . . . . . . . . intronic . 0.0083958 . . . . . . . . . . 0 +1 237732684 RYR2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237753074 RYR2 AT ATT,A 1 0.285144 0.4491 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign . . . 0.4997 . intronic . 0.012005 . . . . . . . . 0.4430 Name\x3d97.178351 1 +1 237753364 RYR2 A C 101 0.336861 0.4881 . . . . . . . . . intronic . 0.0869329 . . . . . . . . . . 0 +1 237754020 RYR2 C T 1 0.000599042 0.0009 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.000705 . . . . . . . . 0.0008 Name\x3d99.898378 3 +1 237754340 RYR2 A G 100 0.33746 0.4849 . MedGen:CN169374 not_specified Benign . . . 0.4852 . intronic . 0.407239 . . . . . . . . 0.4731 . 0 +1 237754963 RYR2 A G 6 0.0071885 0.0275 . . . . . . . . . intronic . 0.0038033 . . . . . . . . . . 0 +1 237755076 RYR2 A G 6 0.0071885 0.0275 1.769 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.0174319 T . . . B T . . 0.0218 Name\x3d99.848202 2.5 +1 237755188 RYR2 C T 100 0.335863 0.4863 . MedGen:CN169374 not_specified Benign . . . 0.5113 . intronic . 0.409678 . . . . . . . . 0.4748 . 0 +1 237755203 RYR2 T C 100 0.33746 0.4886 . MedGen:CN169374 not_specified Benign . . . 0.4854 . intronic . 0.401948 . . . . . . . . 0.4624 . 0 +1 237759023 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.913877 5 +1 237765458 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237765470 RYR2 A T 96 0.293131 0.4713 . . . . . . . . . intronic . 0.0832589 . . . . . . . . 0.4598 . 0 +1 237774017 RYR2 A G 2 0.00159744 0.0055 . . . . . . . 0.0068 . intronic . 0.0023286 . . . . . . . . 0.0037 Name\x3d97.185930 3 +1 237778082 RYR2 G A 6 0.00978435 0.0282 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0232 nonsynonymous_SNV exonic . 0.0164163 T . . . B T . . 0.0234 Name\x3d99.715638 2.5 +1 237778084 RYR2 G A 7 0.076278 0.0262 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0308 nonsynonymous_SNV exonic . 0.0419917 T . . . B T . . 0.0311 Name\x3d99.715638 2.5 +1 237780803 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.798190 5 +1 237794913 RYR2 A ATT 77 0.553315 . . . . . . . . . . intronic . 0.106462 . . . . . . . . . . 0 +1 237796837 RYR2 G A 64 0.428514 0.3475 . MedGen:CN169374 not_specified Benign . . . 0.3283 . intronic . 0.0018887 . . . . . . . . 0.3323 Name\x3d98.575087 1 +1 237796850 RYR2 A G 7 0.155152 0.0596 . MedGen:CN169374 not_specified Benign . . . 0.0626 . intronic . 0.0018887 . . . . . . . . 0.0561 Name\x3d99.279769 1 +1 237797082 RYR2 T G 64 0.440695 0.3478 . . . . . . . . . intronic . 0.0714933 . . . . . . . . . . 0 +1 237798342 RYR2 G A 17 0.029353 0.1204 . MedGen:CN169374 not_specified Likely_benign . . . 0.1126 . intronic . 0.054346 . . . . . . . . 0.1161 . 0 +1 237801770 RYR2 T C 214 0.954872 0.9999 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.937362 . . . . . . . . 0.9994 Name\x3d99.920601 1 +1 237802559 RYR2 T C 214 0.998203 0.9999 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 +1 237806606 RYR2 G GT 1 0.0129792 0.0004 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0007 . intronic . 0.0002199 . . . . . . . . 0.0006 . 0 +1 237806819 RYR2 G A 23 0.14357 0.0994 . . . . . . . . . intronic . 0.02238 . . . . . . . . . . 0 +1 237811766 RYR2 C T 2 0.00159744 0.0062 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0080 synonymous_SNV exonic . 0.003965 . . . . . . . . 0.0067 Name\x3d99.929263 3 +1 237811896 RYR2 G A 1 0.000399361 6.483e-05 7.278 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0001617 D . . . D D . . 0.0001 Name\x3d99.909780 11 +1 237813126 RYR2 A G 92 0.573083 0.4505 . . . . . . . . . intronic . 0.0942032 . . . . . . . . . . 0 +1 237814783 RYR2 C T 91 0.554912 0.4479 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4775 synonymous_SNV exonic . 0.427834 . . . . . . . . 0.4361 Name\x3d99.838067 1 +1 237814843 RYR2 C T 1 0.00219649 . . . . . . . . . . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.516597 3 +1 237817514 RYR2 GA G 40 0.447484 0.2619 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237817784 RYR2 A G 33 0.353435 0.2131 . . . . . . . . . intronic . 0.0061088 . . . . . . . . . . 0 +1 237823256 RYR2 A C 12 0.0407348 0.0512 . MedGen:CN169374 not_specified Benign . . . 0.0815 . intronic . 0.0431366 . . . . . . . . 0.0530 Name\x3d98.534701 1 +1 237823258 RYR2 A C 1 0.000199681 . . . . . . . . 3.126e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.534701 5 +1 237829952 RYR2 G A 2 0.00119808 0.0026 . . . . . . . . . intronic . 0.0002329 . . . . . . . . 0.0041 Name\x3d99.348525 3 +1 237831103 RYR2 C A 214 0.952077 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237831365 RYR2 C T 1 0.000998403 0.0030 . . . . . . . . . intronic . 0.0029584 . . . . . . . . . . 2 +1 237838001 RYR2 G A 2 0.00179712 0.0131 . . . . . . . 0.0149 . intronic . 0.0064359 . . . . . . . . 0.0079 Name\x3d98.106732 1 +1 237841339 RYR2 A C 1 0.000199681 0.0003 . Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202 Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000939276|Enhancer . . 0.0005 . intronic . 0.0002005 . . . . . . . . 0.0001 Name\x3d99.653611 4 +1 237841390 RYR2 A G 54 0.0992412 0.3164 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000939276|Enhancer . . 0.3501 nonsynonymous_SNV exonic rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032 0.216757 T . . . B T . . 0.3042 Name\x3d99.917075 3.5 +1 237841393 RYR2 A C 1 0.000199681 . 4.217 . . . Name\x3dENSR00000939276|Enhancer . . 8.159e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.944688 9 +1 237850666 RYR2 C CT 151 0.561102 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.965336 1 +1 237850703 RYR2 C T 6 0.00559105 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0010758 . . . . . . . . . Name\x3d99.661070 12 +1 237850729 RYR2 C T 10 0.00958466 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.671939 12 +1 237850816 RYR2 C T 1 0.000399361 0.0018 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000391365|Enhancer . . 0.0027 . intronic . 0.0014812 . . . . . . . . 0.0024 Name\x3d99.902829 4 +1 237862360 RYR2 A G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237862421 RYR2 T A 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d98.278148 3 +1 237862436 RYR2 T C 155 0.727436 0.7497 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237863718 RYR2 T G 214 0.969249 0.9994 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117 0.971902 . . . . . . . . 0.9995 Name\x3d99.940279 1 +1 237865203 RYR2 C T 214 0.969249 0.9995 . . . . . . . . . intronic . 0.193756 . . . . . . . . . . 0 +1 237865451 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.813096 5 +1 237870203 RYR2 C T 6 0.00579073 0.0095 . . . . . . . 0.0102 . intronic . 0.0080788 . . . . . . . . 0.0128 . 0 +1 237870542 RYR2 G A 1 0.000199681 6.481e-05 4.327 . . . . . . 3.394e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.921260 5 +1 237872714 RYR2 GT G 208 0.765974 0.9867 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237872887 RYR2 T C 6 0.00938498 0.0116 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0187 . intronic . 0.0106079 . . . . . . . . 0.0166 . 0 +1 237875040 RYR2 C T 1 0.000599042 0.0001 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0016 . intronic . 0.0004916 . . . . . . 0.0002 0.068 0.0004 Name\x3d99.774261 3 +1 237875068 RYR2 C T 1 0.00339457 0.0031 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0056 synonymous_SNV exonic . 0.00315 . . . . . . . . 0.0033 Name\x3d99.907421 3 +1 237880443 RYR2 G A 1 0.00159744 0.0017 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . . 2 +1 237881770 RYR2 C T 214 0.960463 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.966372 . . . . . . . . 0.9995 Name\x3d99.933581 1 +1 237890437 RYR2 C T 214 0.960264 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.969903 . . . . . . . . 0.9995 Name\x3d99.855105 1 +1 237893674 RYR2 C T 214 0.985224 0.9998 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.0001035 . . . . . . . . 0.9998 . 0 +1 237905520 RYR2 A G 1 0.000599042 0.0010 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 2 +1 237905568 RYR2 T TC 61 0.195088 0.2767 . . . . . . . 0.2293 . intronic . 0.0009573 . . . . . . . . 0.2912 . 0 +1 237905586 RYR2 A T 1 0.0081869 0.0011 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0002 . intronic . 0.000304 . . . . . . . 0.012 . Name\x3d95.029922 3 +1 237923053 RYR2 C T 147 0.761581 0.6807 . MedGen:CN169374 not_specified Benign . . . 0.6863 . intronic . 0.69688 . . Name\x3dOREG1118953|N/A|USF2|JASPAR,OREG1880749|N/A|STAT1|PAZAR . . . . . 0.6923 Name\x3d99.580996 2 +1 237923243 RYR2 A G 18 0.0930511 0.1049 . . . . . . . . . intronic . 0.0208277 . . Name\x3dOREG1880749|N/A|STAT1|PAZAR . . . . . . . 1 +1 237934206 RYR2 C T 2 0.0061901 0.0295 . MedGen:CN169374 not_specified Benign . . . 0.0200 . intronic . 0.0080853 . . . . . . . . 0.0227 . 0 +1 237941906 RYR2 C A 6 0.00978435 0.0126 . . . . . . . . . intronic . 0.0027555 . . . . . . . . . Name\x3d98.512987 1 +1 237941945 RYR2 G A 7 0.0445288 0.0476 . MedGen:CN169374 not_specified Likely_benign . . . 0.0420 . intronic . 0.0432336 . . . . . . . . 0.0458 Name\x3d99.408047 1 +1 237942082 RYR2 AACTG A 6 0.00978435 0.0126 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0137 . intronic . 0.0003299 . . . . . . . . 0.0158 Name\x3d98.351284 1 +1 237944814 RYR2 C T 21 0.121006 0.0815 . . . . . . . . . intronic . 0.0197022 . . . . . . . . 0.0998 Name\x3d98.616522 1 +1 237946964 RYR2 T C 65 0.414736 0.3402 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.4705 . intronic . 0.356794 . . . . . . 0.0017 0.088 0.3387 Name\x3d99.603074 1 +1 237947000 RYR2 C T 6 0.0123802 0.0133 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0168 synonymous_SNV exonic . 0.0119403 . . . . . . . . 0.0173 Name\x3d99.891071 1 +1 237948286 RYR2 A G 4 0.0107827 0.0080 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0150 . intronic . 0.0069598 . . . . . . . . 0.0092 Name\x3d96.383836 1 +1 237949440 RYR2 C G 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237949456 RYR2 T C 15 0.0407348 0.0576 . . . . . . . . . intronic . 0.0114552 . . . . . . . . . . 0 +1 237951226 RYR2 A G 2 0.0397364 0.0355 . . . . . . . . . intronic . 0.0062806 . . . . . . . . . . 0 +1 237951451 RYR2 A G 113 0.636581 0.5359 . MedGen:CN169374 not_specified Benign . . . 0.5482 . intronic . 0.549178 . . . . . . . . 0.5443 Name\x3d98.585776 1 +1 237951482 RYR2 G A 62 0.297923 0.2812 . MedGen:CN169374 not_specified Benign . . . 0.2886 . intronic . 0.252616 . . . . . . . . 0.2861 . 0 +1 237955364 RYR2 A G 14 0.0535144 0.0309 . MedGen:C4053736,OMIM:604772|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified Benign . . . 0.0437 . intronic . 0.0291523 . . . . . . . . 0.0312 Name\x3d98.918745 1 +1 237955649 RYR2 CTGTG C 107 0.528155 0.3917 . . . . . . . 0.4759 . intronic . 0.0001811 . . . . . . . . . Name\x3d97.395491 1 +1 237955678 RYR2 T C 107 0.528155 0.3919 . . . . . . . . . intronic . 0.12452 . . . . . . . . . . 0 +1 237955680 RYR2 T C 107 0.528155 0.3890 . . . . . . . . . intronic . 0.0216306 . . . . . . . . . . 0 +1 237957146 RYR2 G A 125 0.734026 0.6737 . MedGen:CN169374 not_specified Benign . . . 0.6640 . intronic . 0.676544 . . . . . . . . 0.6579 Name\x3d99.475319 1 +1 237957161 RYR2 A G 127 0.757588 0.6923 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6874 . intronic . 0.0035252 . . . . . . . . 0.6785 Name\x3d99.755143 1 +1 237957309 RYR2 A C 123 0.750799 0.6834 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6716 . intronic . 0.709325 . . . . . . . . 0.6684 Name\x3d99.758262 1 +1 237958750 RYR2 A AT 109 0.647764 0.6656 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237961297 RYR2 A ATGGTTGTGGTTG 5 0.00938498 . . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.011046 11 +1 237965065 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237965094 RYR2 G T 80 0.46226 0.4175 . . . . . . . . . intronic . 0.0807816 . . . . . . . . . . 0 +1 237965131 RYR2 G A 80 0.405152 0.4121 . MedGen:CN169374 not_specified Benign . . . 0.4119 . intronic . 0.392524 . . . . . . . . 0.4032 Name\x3d98.355954 1 +1 237965133 RYR2 A AT 70 0.377995 0.3775 . MedGen:CN169374 not_specified Likely_benign . . . 0.3296 . intronic . 0.00011 . . . . . . . . . Name\x3d98.355954 1 +1 237969638 RYR2 A G 35 0.28774 0.2109 . . . . . . . . . intronic . 0.0436864 . . . . . . . . . . 0 +1 237972148 RYR2 C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237972152 RYR2 T C 4 0.0091853 0.0073 . . . . . . . 0.0084 . intronic . 0.0086157 . . . . . . . . 0.0078 Name\x3d98.006337 7 +1 237972189 RYR2 A G 4 0.0091853 0.0073 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0084 . intronic . 0.0083699 . . . . . . 0.0005 0.024 0.0078 Name\x3d99.692462 7 +1 237991614 RYR2 G C 1 0.00179712 0.0090 . . . . . . . . . intronic . 0.001533 . . . . . . . . 0.0060 Name\x3d95.002539 3 +1 237991767 RYR2 T C 5 0.00938498 0.0080 . . . . . . . 0.0120 . intronic . 0.0062418 . . . . . . . . 0.0072 . 0 +1 237991862 RYR2 TG T 10 0.0209665 0.0731 . . . . . . . . . intronic . 0.0106808 . . . . . . . . . . 0 +1 237993743 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237993798 RYR2 C T 3 0.00159744 0.0032 . . . . . . . 0.0039 . intronic . 0.0029366 . . . . . . . . 0.0037 Name\x3d98.902368 7 +1 237994957 RYR2 G A 1 0.158347 0.0057 . . . . . . . . . intronic . 0.0097347 . . . . . . . . . . 0 +1 237996016 RYR2 C G 1 0.000199681 . . . . . Name\x3dENSR00000391398|Enhancer . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d99.642075 6 +20 30407387 MYLK2 G A 4 0.00119808 0.0031 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000648953|Promoter . . 0.0012 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0016 Name\x3d99.951784 7.5 +20 30408306 MYLK2 C G 7 0.00838658 0.0205 4.119 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000648953|Promoter . . 0.0189 nonsynonymous_SNV exonic . 0.0137838 T . . . D D . . 0.0202 Name\x3d99.842390 3 +20 30409207 MYLK2 G A 1 0.000599042 . . . . . . . . . . intronic . 0.0001164 . . . . . . . . . Name\x3d99.313475 1 +20 30409452 MYLK2 T C 23 0.0720847 0.0658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0781 synonymous_SNV exonic . 0.0680134 . . . . . . . . 0.0802 Name\x3d99.852089 -1 +20 30409573 MYLK2 C T 23 0.071885 0.0644 . . . . . . . 0.0779 . intronic . 0.0620302 . . . . . . . . 0.0706 Name\x3d99.005837 -1 +20 30409584 MYLK2 G C 14 0.0549121 0.1192 . . . . . . . 0.1262 . intronic . 0.0890868 . . . . . . . . 0.1195 Name\x3d99.030764 -1 +20 30411427 MYLK2 T C 23 0.0720847 0.0658 . . . . . . . 0.0785 . intronic . 0.0670366 . . . . . . . . 0.0802 Name\x3d98.478916 -1 +20 30412101 MYLK2 C T 1 0.00599042 0.0167 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign . . . 0.0164 synonymous_SNV exonic . 0.0114358 . . Name\x3dOREG1501378|N/A|EGR1|PAZAR . . . . . 0.0193 Name\x3d99.904036 0 +20 30414334 MYLK2 G A 23 0.0720847 0.0656 . . . . . . . . . intronic . 0.0139196 . . . . . . . . . Name\x3d95.528867 -1 +20 30414503 MYLK2 C T 5 0.00499201 0.0134 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0156 synonymous_SNV exonic . 0.0106661 . . . . . . . . 0.0185 Name\x3d99.912412 -1 +20 30414528 MYLK2 G A 5 0.00958466 0.0262 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0307 . intronic . 0.0202779 . . . . . . . . 0.0265 Name\x3d99.326815 -1 +20 30414560 MYLK2 C G 23 0.0720847 0.0658 . . . . . . . 0.0782 . intronic . 0.0672824 . . . . . . . . 0.08 Name\x3d96.392839 -1 +20 30414578 MYLK2 G A 7 0.0201677 0.0408 . . . . . . . 0.0438 . intronic . 0.0336218 . . . . . . . . 0.0469 Name\x3d96.809468 -1 +20 30414621 MYLK2 C T 1 0.0081869 0.0293 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign . . . 0.0228 synonymous_SNV exonic . 0.0202326 . . . . . . . . 0.0216 Name\x3d99.897062 -1 +20 30418996 MYLK2 G A 4 0.00179712 0.0056 . . . . . . . 0.0047 . intronic . 0.003454 . . . . . . . . 0.0048 Name\x3d99.292048 5 +20 30419595 MYLK2 C T 1 0.000199681 . 5.477 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.937496 3 +20 30419954 MYLK2 A G 23 0.0722843 0.0641 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0914 . intronic . 0.0641389 . . . . . . . . 0.0755 Name\x3d98.672132 -1 +20 30421459 MYLK2 C T 44 0.222444 0.2209 . . . . . . . . . intronic . 0.0385571 . . . . . . . . 0.2040 Name\x3d98.357362 1 +20 31996336 SNTA1 T G 2 0.0365415 . 3.397 . . . . . . 3.7e-05 nonsynonymous_SNV exonic . 0.0011837 D . . . D D . . . Name\x3d99.679101 2 +20 32000351 SNTA1 A G 144 0.6877 0.6871 . . . . . . . 0.6933 . intronic . 0.682941 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.6893 Name\x3d96.216822 0 +20 32000462 SNTA1 C T 2 0.0071885 0.0176 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00001050272|Enhancer . . 0.0138 synonymous_SNV exonic . 0.0109184 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.0195 Name\x3d99.409965 1 +20 32000520 SNTA1 G C 2 0.000998403 0.0041 4.849 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00001050272|Enhancer . . 0.0033 nonsynonymous_SNV exonic . 0.0019211 T . Name\x3dOREG1524827|N/A|ESR1|PAZAR,OREG1533887|N/A|ESR1|PAZAR,OREG1187476|N/A|TFAP2C|PAZAR . D D . . 0.0030 Name\x3d99.220788 6 +20 32031206 SNTA1 G A 2 0.000599042 0.0039 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000136252|Promoter . . 0.0029 nonsynonymous_SNV exonic . 0.0003881 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B D . . . Name\x3d99.787778 3 +20 32031227 SNTA1 G A 1 0.000199681 . 1.553 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN517202 Long_QT_syndrome|not_provided Uncertain_significance Name\x3dENSR00000136252|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.791355 6.5 +20 42743454 JPH2 A G 66 0.257388 0.3044 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.3514 synonymous_SNV exonic . 0.247313 . . . . . . . . 0.3065 Name\x3d99.674575 1 +20 42743559 JPH2 G A 1 0.000199681 6.498e-05 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.652494 5 +20 42743616 JPH2 G C 6 0.00499201 0.0136 . . . . . . . . . intronic . 0.0117566 . . . . . . . . . . 0 +20 42744265 JPH2 G C 14 0.104433 0.0738 . . . . . . . 0.0727 . intronic . 0.0727352 . . . . . . . . 0.0740 Name\x3d97.935933 1 +20 42744587 JPH2 G C 51 0.152955 0.2304 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.2773 synonymous_SNV exonic . 0.139054 . . . . . . . . 0.1887 Name\x3d99.775908 1 +20 42744802 JPH2 C T 3 0.0153754 0.0080 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.0368 nonsynonymous_SNV exonic . 0.003564 T . . . B T . . 0.004 Name\x3d99.737037 2.5 +20 42745033 JPH2 G A 4 0.00738818 0.0318 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0248 . intronic . 0.0055627 . . . . . . 0.0001 . . Name\x3d99.475903 1 +20 42747247 JPH2 C T 28 0.270367 0.1302 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.1342 nonsynonymous_SNV exonic . 0.17732 T . . . D T . . 0.1290 Name\x3d99.436092 4 +20 42747254 JPH2 G A 25 0.048722 0.1011 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.0930 synonymous_SNV exonic . 0.0727675 . . . . . . . . 0.1027 Name\x3d99.604477 1 +20 42789053 JPH2 G A 1 0.00199681 0.0022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0030 . intronic . 0.002652 . . . . . . 0.0011 0.02 0.0021 Name\x3d99.791148 3 +20 42789056 JPH2 G C 1 0.00299521 0.0053 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0063 . intronic . 0.0036545 . . . . . . 0.0001 0.048 0.0027 Name\x3d99.791148 3 +20 42806581 JPH2 G A 1 0.000199681 . . . . . . . . 1.84e-05 . UTR3 . 1.94e-05 . . . . . . . . . . 4 +20 42806597 JPH2 C T 1 0.000399361 . . . . . . . . 1.84e-05 . UTR3 . 3.88e-05 . . . . . . . . . Name\x3d97.594677 5 +20 42814931 JPH2 T C 175 0.862819 0.8303 . . . . Name\x3dENSR00000137483|Promoter . . 0.8275 . intronic . 0.827687 . . . . . . . . 0.8244 Name\x3d96.717802 2 +20 42815190 JPH2 G A 175 0.854233 0.8376 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000137483|Promoter . . 0.8318 synonymous_SNV exonic . 0.83832 . . . . . . . . 0.8293 Name\x3d99.918953 2 +20 61039958 GATA5 T C 100 0.629193 0.5371 . . . . . . . 0.5140 synonymous_SNV exonic . 0.532716 . . . . . . . . 0.5094 Name\x3d95.655235 -1 +20 61040014 GATA5 C T 1 0.000399361 6.57e-05 1.651 . . . . . . 0.0001 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . 0.0002 Name\x3d96.984617 3 +20 61040453 GATA5 C G 94 0.534545 0.5035 . . . . . . . 0.4900 synonymous_SNV exonic . 0.469942 . . Name\x3dOREG1413158|N/A|E2F1|PAZAR . . . . . 0.4841 Name\x3d96.786518 0 +20 61040951 GATA5 C T 95 0.529553 0.4987 . . . . . . . 0.5504 synonymous_SNV exonic . 0.442724 . . . . . . . . 0.4776 Name\x3d98.086064 -1 +20 61040991 GATA5 C T 1 0.000199681 0.0004 . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . 0.0002 . 2 +20 61041422 GATA5 C T 1 0.000399361 . . . . . . . . . . intronic . 0.0001921 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 +20 61041640 GATA5 G A 1 0.000599042 0.0011 . . . . . . . 0.0024 . intronic . 0.0004981 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.0010 . 1 +20 61041651 GATA5 G A 1 0.000199681 . . . . . . . . . . intronic . 5.17e-05 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 +20 61041653 GATA5 G C 94 0.420327 0.4121 . . . . . . . 0.4391 . intronic rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027 0.175043 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.3733 . -1 +20 61048460 GATA5 A G 2 0.00219649 0.0016 3.750 . . . Name\x3dENSR00000657241|Promoter . . 0.0032 nonsynonymous_SNV exonic . 0.001216 D . . . P D 0.4452 0.502 0.0014 Name\x3d98.107154 5 +20 61048549 GATA5 G A 94 0.388179 0.4329 . . . . Name\x3dENSR00000657241|Promoter . . 0.4697 synonymous_SNV exonic . 0.383902 . . . . . . . . 0.4344 Name\x3d98.040156 0 +20 61050082 GATA5 C T 1 0.00239617 . 2.628 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 0.0006598 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . 0.0001 Name\x3d98.801386 4.5 +20 61050154 GATA5 A G 1 0.000599042 0.0006 4.737 MedGen:CN169374 not_specified Uncertain_significance Name\x3dENSR00000657241|Promoter . . 0.0064 nonsynonymous_SNV exonic . 0.0003493 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . D D . . 0.0002 Name\x3d98.308121 6 +20 61050379 GATA5 T G 35 0.142572 0.1795 0.113 . . . Name\x3dENSR00000657241|Promoter . . 0.375 nonsynonymous_SNV exonic . 0.0343851 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . . Name\x3d97.830015 2.5 +20 61050552 GATA5 G C 1 0.000998403 . 1.970 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 5.17e-05 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . P D . . . Name\x3d98.522779 6 +20 61050625 GATA5 G A 5 0.101837 0.0091 . . . . Name\x3dENSR00000657241|Promoter . . 0.0275 . intronic . 0.0207242 . . Name\x3dOREG1485709|N/A|EGR1|PAZAR . . . . . 0.0070 . 0 +21 35742722 KCNE2 C T 34 0.286941 0.1455 . . . . . . . . . intronic . 0.0366101 . . . . . . . . . Name\x3d98.361661 -1 +21 35742750 KCNE2 A G 4 0.0744808 0.0284 . MedGen:CN169374 not_specified Benign . . . 0.0272 . intronic . 0.0386023 . . . . . . . . 0.0316 Name\x3d98.254505 -1 +21 35742947 KCNE2 T C 2 0.000798722 0.0001 5.453 MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0008603 D . . . D D . . 0.0002 Name\x3d99.905103 7 +21 35821609 na G A 1 0.000199681 . . . . . . . . 3.699e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.597612 3 +21 35821680 na C T 1 0.00379393 0.0104 2.892 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C1867904,OMIM:613695|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_other,_risk_factor . . . 0.0134 nonsynonymous_SNV exonic rs1805128|QT-interval|7.409|3E-15|PMID:30679814 0.0092431 T . . . P D . . 0.0122 Name\x3d99.562698 -1 +21 35821821 na T C 127 0.673922 0.6452 -1.420 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.6427 nonsynonymous_SNV exonic . 0.640548 T . . . B T . . 0.6369 Name\x3d99.420721 0.5 +21 35821849 na C T 1 0.00379393 0.0055 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0054 synonymous_SNV exonic . 0.0039003 . . . . . . . . 0.0056 Name\x3d99.547099 1 +21 35821939 KCNE1B C T 1 0.000399361 . 0.846 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.577943 4.5 +22 19864694 TXNRD2 C T 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0005 unknown exonic . 0.0006015 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . 0.0001 Name\x3d96.545331 4 +22 19865925 TXNRD2 C T 1 0.000199681 . . . . . . . . . unknown exonic . 1.29e-05 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . . Name\x3d97.531187 6 +22 19867771 TXNRD2 C T 41 0.269169 0.1511 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1600 unknown exonic . 0.180043 . . Name\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR . . . . . 0.1615 Name\x3d97.876249 3 +22 19868218 TXNRD2 A G 162 0.718251 0.7309 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000666574|Promoter . . 0.7403 unknown exonic . 0.69829 T . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . B T . . 0.7377 Name\x3d95.253025 3 +22 19868228 TXNRD2 G A 1 0.0169728 0.0022 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000666574|Promoter . . 0.0043 unknown exonic . 0.006811 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.0044 Name\x3d97.119797 3 +22 19868255 TXNRD2 AG A 42 0.156749 0.1479 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000666574|Promoter . . 0.1644 . intronic . 0.0045536 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.1610 . 2 +22 19870831 TXNRD2 C T 68 0.221645 0.3011 . MedGen:CN169374 not_specified Benign . . . 0.3064 . intronic . 0.266141 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.2962 . 2 +22 19871018 TXNRD2 C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.0001 . 5 +22 19882984 TXNRD2 T G 32 0.251198 0.1588 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1653 nonsynonymous_SNV exonic . 0.185929 T . Name\x3dOREG1944307|N/A|ZNF263|PAZAR,OREG1513448|N/A|EGR1|PAZAR . B T . . 0.1662 . 4.5 +22 19883123 TXNRD2 C T 1 0.000399361 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0008 . intronic . 0.0006921 . . Name\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR . . . . . 0.0004 . 3 +22 19885548 TXNRD2 G T 32 0.242212 0.1585 . MedGen:CN169374 not_specified Benign . . . 0.2206 . intronic . 0.111493 . . Name\x3dOREG1513442|N/A|EGR1|PAZAR,OREG1944316|N/A|ZNF263|PAZAR . . . . . 0.1568 . 3 +22 19898818 TXNRD2 C A 1 0.0483227 0.0194 . . . . . . . . . intronic . 0.0060543 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 +22 19898837 TXNRD2 A G 116 0.751198 0.5672 . . . . . . . . . intronic . 0.124701 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.5632 . 1 +22 19898886 TXNRD2 C T 18 0.171526 0.1066 . MedGen:CN169374 not_specified Benign . . . 0.0892 . intronic . 0.125839 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0903 . 1 +22 19898887 TXNRD2 G A 1 0.048123 0.0193 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0331432 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0214 . 2 +22 19899061 TXNRD2 G C 1 0.0483227 0.0191 . . . . . . . . . intronic . 0.0058731 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 +22 19902671 TXNRD2 C T 8 0.0585064 0.0422 . . . . . . . . . intronic . 0.0100063 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0525 . 2 +22 19902896 TXNRD2 C T 76 0.507987 0.3788 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 1 +22 19905802 TXNRD2 G A 114 0.7498 0.5647 . . . . . . . . . intronic . 0.119746 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.5597 . 1 +22 19906367 TXNRD2 G T 1 0.00259585 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0004 . intronic . 0.001119 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0007 . 3 +22 19906370 TXNRD2 G A 7 0.0297524 0.0232 . MedGen:CN169374 not_specified Benign . . . 0.0245 . intronic . 0.0298573 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0297 . 1 +22 19906511 TXNRD2 G A 30 0.168131 0.1440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1502 synonymous_SNV exonic . 0.141783 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.1476 Name\x3d96.105989 3 +22 19907099 TXNRD2 C A 76 0.483027 0.3760 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4121 nonsynonymous_SNV exonic . 0.309356 T . Name\x3dOREG1513443|N/A|EGR1|PAZAR . D D . . 0.3312 Name\x3d95.222680 5 +22 19907118 TXNRD2 G A 105 0.596845 0.5194 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5443 synonymous_SNV exonic . 0.414833 . . Name\x3dOREG1944319|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.4793 Name\x3d96.062314 2 +22 19907192 TXNRD2 A G 113 0.754393 0.5652 . . . . . . . . . intronic . 0.106415 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944319|N/A|ZNF263|PAZAR . . . . . 0.5575 . 1 +22 19918723 TXNRD2 G A 10 0.0107827 0.0288 . . . . . . . . . intronic . 0.0041267 . . Name\x3dOREG1272801|N/A|SMARCA4|PAZAR,OREG1513434|N/A|EGR1|PAZAR . . . . . . . 1 +2 39224112 SOS1 T C 1 0.000599042 0.0040 1.576 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign . . . 0.0031 nonsynonymous_SNV exonic . 0.0017852 T . . . B T . . 0.0028 Name\x3d99.676631 2.5 +2 39224351 SOS1 G T 199 0.90016 0.9399 . MedGen:CN169374 not_specified Benign . . . 0.9336 . intronic . 0.0001035 . . . . . . . . 0.9369 . -2 +2 39224614 SOS1 A G 2 0.00359425 0.0304 . MedGen:CN169374 not_specified Likely_benign . . . 0.0395 . intronic . 0.0034152 . . . . . . . . . Name\x3d95.538457 -1 +2 39224615 SOS1 G GT 199 0.787939 0.9396 . MedGen:CN169374 not_specified Benign . . . 0.9317 . intronic . 0.0001035 . . . . . . . . 0.9326 Name\x3d95.538457 -1 +2 39233500 SOS1 G A 199 0.905152 0.9387 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . . . . intronic . 0.0003458 . . . . . . . . . Name\x3d97.945279 -1 +2 39239386 SOS1 T G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.715627 3 +2 39240758 SOS1 C T 1 0.000399361 0.0005 . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d98.932330 1 +2 39241107 SOS1 G A 4 0.00319489 0.0107 1.732 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign . . . 0.0126 nonsynonymous_SNV exonic . 0.0079624 T . . . B T . . 0.0098 Name\x3d99.731899 0.5 +2 39249896 SOS1 A G 1 0.000199681 . 2.765 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . P D . . . Name\x3d99.762476 6 +2 39250386 SOS1 A G 1 0.00778754 0.0086 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0101 . intronic . 0.0091396 . . . . . . . . 0.0077 Name\x3d97.552488 -1 +2 39262348 SOS1 C G 1 0.00279553 0.0153 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0170 . intronic . 0.0076519 . . . . . . 0.2881 0.442 0.0081 Name\x3d99.329274 -1 +2 39278394 SOS1 A G 1 0.000199681 . 5.873 MedGen:CN517202 not_provided Uncertain_significance . . . 9.205e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.712627 6 +2 39278497 SOS1 A G 1 0.000399361 0.0006 . . . . . . . . . intronic . 9.7e-05 . . . . . . . . . Name\x3d99.176011 1 +2 39281730 SOS1 G C 199 0.891374 0.9190 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.9118 . intronic . 0.882977 . . . . . . . . 0.9209 . -2 +2 39281905 SOS1 G A 2 0.000998403 0.0034 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0036 synonymous_SNV exonic . 0.0022703 . . . . . . . . 0.0045 Name\x3d99.645939 1 +2 39283784 SOS1 G C 4 0.00658946 0.0189 . . . . . . . . . intronic . 0.0023674 . . . . . . . . . Name\x3d96.839047 -1 +2 39285762 SOS1 G C 6 0.0515176 0.0116 . . . . . . . . . intronic . 0.0041849 . . Name\x3dOREG1247580|N/A|SMARCA4|PAZAR . . . . . 0.0131 Name\x3d95.281481 0 +2 39347388 SOS1 GC G 12 0.0135783 0.0221 . MedGen:CN517202 not_provided Likely_benign Name\x3dENSR00000115638|Promoter . . . . intronic . 0.0028431 . . Name\x3dOREG1165803|N/A|TFAP2C|PAZAR,OREG1247587|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.690461 1 +2 47389342 CALM2 A C 20 0.205072 0.0744 . . . . . . . . . intronic . 0.0157372 . . . . . . . . . . -2 +2 47389467 CALM2 G A 2 0.000599042 0.0005 . MedGen:C4551647,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Benign/Likely_benign . . . 0.0016 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0010 Name\x3d95.064076 1 +2 47389842 CALM2 T C 2 0.00559105 0.0003 . . . . . . . 0.0002 . intronic . 0.0023932 . . . . . . . . 0.0003 . 0 +2 105977761 FHL2 G A 40 0.111422 0.1926 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1949 synonymous_SNV exonic . 0.157094 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1959 Name\x3d96.130399 3 +2 105977776 FHL2 G A 25 0.0517173 0.1181 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1187 synonymous_SNV exonic rs3087523|Body-mass-index||1E-8|PMID:30595370 0.0922368 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1270 Name\x3d95.218007 3 +2 105977903 FHL2 G C 25 0.305511 0.1415 . MedGen:CN169374 not_specified Benign . . . 0.1299 . intronic . 0.200567 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . 0.0006 0.062 0.1364 . 1 +2 105979730 FHL2 C A 81 0.277356 0.3797 . MedGen:CN169374 not_specified Benign . . . 0.3791 . intronic . 0.333443 . . . . . . . . 0.3766 . 1 +2 105979752 FHL2 G A 2 0.00459265 0.0100 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0071 synonymous_SNV exonic . 0.0062289 . . . . . . . . 0.0126 Name\x3d95.803674 1 +2 105979986 FHL2 C T 3 0.00219649 0.0051 . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . 6 +2 179391754 TTN A G 1 0.000399361 0.0014 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0010 synonymous_SNV exonic . 0.0006727 . . . . . . . . 0.0011 Name\x3d97.150907 3 +2 179392015 TTN T C 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0018 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0018 Name\x3d98.415750 3 +2 179392080 na A T 26 0.209065 0.1529 . MedGen:CN169374 not_specified Benign . . . 0.1492 . ncRNA_intronic . 0.163336 . . . . . . . . 0.1461 . -2 +2 179392277 TTN A G 1 0.00219649 0.0006 1.541 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0019987 T . . . B D . . 0.0016 Name\x3d97.851703 3 +2 179393111 TTN A G 15 0.0920527 0.0178 0.471 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0217 nonsynonymous_SNV exonic . 0.0430007 T . . . B T . . 0.0207 Name\x3d97.461935 2.5 +2 179393691 TTN G A 1 0.00379393 0.0157 3.210 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0097 nonsynonymous_SNV exonic . 0.0086674 T . . . B T . . 0.0068 Name\x3d97.647082 2.5 +2 179393840 TTN C T 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0036481 . . . . . . . . 0.0020 Name\x3d97.549799 3 +2 179393859 TTN A G 6 0.00459265 0.0176 2.010 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0206 nonsynonymous_SNV exonic . 0.0124449 T . . . B T . . 0.0178 Name\x3d96.596643 2.5 +2 179395067 TTN C G 15 0.0509185 0.0873 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0866 synonymous_SNV exonic . 0.0668685 . . . . . . . . 0.0874 Name\x3d97.345107 1 +2 179395554 TTN G A 5 0.00519169 0.0154 2.704 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.010679 T . . . B T . . 0.0143 Name\x3d98.631762 3.5 +2 179395555 TTN C A 5 0.00519169 0.0154 2.275 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.0106467 T . . . B T . . 0.0143 Name\x3d98.631762 3.5 +2 179395560 TTN G A 15 0.0792732 0.0177 3.557 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0216 nonsynonymous_SNV exonic . 0.038376 T . . . B D . . 0.0208 Name\x3d98.631762 2 +2 179395573 TTN C T 7 0.00658946 0.0186 4.028 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000629513|Promoter . . 0.0210 nonsynonymous_SNV exonic . 0.0137062 T . . . D D . . 0.0175 Name\x3d98.634310 5 +2 179395760 TTN G A 15 0.091254 0.0180 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0216 synonymous_SNV exonic . 0.0424445 . . . . . . . . 0.0205 Name\x3d98.908030 2 +2 179395874 TTN C T 1 0.00319489 0.0101 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000629513|Promoter . . 0.0111 synonymous_SNV exonic . 0.0084346 . . . . . . . . 0.0119 Name\x3d98.856270 2 +2 179395958 TTN T C 57 0.508187 0.2291 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.2328 synonymous_SNV exonic . 0.333728 . . . . . . . . 0.2231 Name\x3d98.616577 2 +2 179396162 TTN C G 9 0.0229633 0.0478 2.686 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0411 nonsynonymous_SNV exonic . 0.0384989 T . . . B T . . 0.0436 Name\x3d98.243897 2.5 +2 179396354 TTN G A 26 0.231829 0.1528 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1473 synonymous_SNV exonic . 0.177579 . . . . . . . . 0.1451 Name\x3d98.070010 1 +2 179396573 TTN T G 1 0.00379393 0.0156 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0099 synonymous_SNV exonic . 0.0086998 . . . . . . . . 0.0068 Name\x3d98.012148 1 +2 179396766 TTN C T 1 0.00359425 0.0222 3.918 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0169 nonsynonymous_SNV exonic . 0.012212 T . . . D D . . 0.0145 Name\x3d98.023696 4 +2 179396782 TTN C G 2 0.00239617 0.0073 2.504 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0076 nonsynonymous_SNV exonic . 0.0051422 T . . . B D . . 0.0090 Name\x3d98.388015 3 +2 179397561 TTN C T 26 0.208666 0.1525 4.497 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1459 nonsynonymous_SNV exonic . 0.170761 T . . . D D . . 0.1442 Name\x3d98.925808 4 +2 179398195 TTN C G 1 0.00219649 0.0021 2.784 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0028784 T . . . D D . . 0.0006 Name\x3d98.355946 6 +2 179398509 TTN C A 15 0.0780751 0.0176 3.098 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0214 nonsynonymous_SNV exonic rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743 0.0379491 T . . . D D . . 0.0198 Name\x3d97.951876 4 +2 179398591 TTN T C 2 0.00119808 0.0019 0.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.0007633 T . . . B T . . 0.0012 Name\x3d97.843738 4.5 +2 179398747 TTN T C 2 0.00599042 0.0016 1.457 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0036481 T . . . B T . . 0.0019 Name\x3d98.041026 4.5 +2 179398823 TTN G A 26 0.232029 0.1531 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1473 synonymous_SNV exonic . 0.17743 . . . . . . . . 0.1465 Name\x3d98.278344 1 +2 179398989 TTN C T 1 0.000199681 . 3.802 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d98.382088 8 +2 179399071 TTN G A 2 0.000798722 0.0011 3.933 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0016 nonsynonymous_SNV exonic . 0.0010155 T . . . D D . . 0.0016 Name\x3d97.817307 6 +2 179399451 TTN C T 2 0.00599042 0.0016 4.009 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0037516 T . . . B D . . 0.0019 Name\x3d97.977310 3 +2 179399537 TTN A C 1 0.000199681 6.481e-05 0.640 MedGen:CN517202 not_provided Uncertain_significance . . . 5.559e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d97.654604 8 +2 179399576 TTN C G 4 0.00459265 0.0107 1.720 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0098 nonsynonymous_SNV exonic . 0.0070568 T . . . D D . . 0.0104 Name\x3d97.536771 4 +2 179399677 TTN C T 2 0.00119808 0.0054 2.339 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0058 nonsynonymous_SNV exonic . 0.0037322 T . . . B D . . 0.0065 Name\x3d97.935117 3 +2 179399936 TTN G C 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0020 Name\x3d97.352120 3 +2 179400586 na A G 3 0.0233626 0.0266 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2528 . ncRNA_intronic . 0.0001682 . . . . . . 0.0006 0.004 0.0050 . -2 +2 179400895 TTN C T 13 0.0654952 0.0161 3.526 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0183 nonsynonymous_SNV exonic . 0.0303554 T . . . P T . . 0.0174 Name\x3d97.346311 2.5 +2 179401074 TTN A C 2 0.000798722 0.0005 2.164 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Uncertain_significance . . . 0.0006 nonsynonymous_SNV exonic . 0.0003363 D . . . D D . . 0.0006 Name\x3d97.555167 6 +2 179401311 na C CA 2 0.00359425 0.0090 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0064 . ncRNA_intronic . 0.0002781 . . . . . . . . 0.0072 . 0 +2 179401740 TTN C T 3 0.0231629 0.0244 3.001 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0272 nonsynonymous_SNV exonic . 0.0262739 T . . . D T . . 0.0207 Name\x3d97.115041 1 +2 179401742 TTN C T 2 0.00479233 0.0195 4.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0184 nonsynonymous_SNV exonic . 0.0129235 T . . . D D . . 0.0210 Name\x3d97.243624 4 +2 179401777 TTN A T 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.0036481 . . . . . . . . 0.0018 Name\x3d97.510863 3 +2 179402301 TTN A T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.381445 5 +2 179402474 TTN G A 3 0.000599042 6.481e-05 4.461 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 5.533e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . D D . . . Name\x3d98.632990 10 +2 179403425 TTN G A 1 0.000199681 . 3.515 . . . Name\x3dENSR00000629516|Enhancer . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d97.927466 6 +2 179403593 na G A 26 0.185104 0.1530 . . . . . . . 0.1473 . ncRNA_exonic . 0.160522 . . . . . . . . 0.1444 . -2 +2 179403750 TTN C T 10 0.076877 0.0290 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0326 nonsynonymous_SNV exonic . 0.0646175 T . . . D D . . 0.0287 Name\x3d98.244583 4 +2 179404197 TTN T C 3 0.00399361 0.0163 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0181 synonymous_SNV exonic . 0.012102 . . . . . . . . 0.0166 Name\x3d97.947865 1 +2 179404293 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0037192 . . . . . . . . 0.0020 Name\x3d98.229635 3 +2 179404402 TTN T C 6 0.00399361 0.0056 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0067 nonsynonymous_SNV exonic . 0.0047412 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . B T . . 0.0081 Name\x3d97.955154 13.5 +2 179404461 TTN C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . . . . . . Name\x3d98.447063 6 +2 179404498 TTN G C 1 0.000998403 0.0043 2.862 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0044 nonsynonymous_SNV exonic . 0.0027167 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.221837 7 +2 179404550 TTN G A 1 0.00139776 0.0104 3.839 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0054 nonsynonymous_SNV exonic . 0.0038615 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.356611 5 +2 179404628 TTN T A 13 0.0425319 0.0159 2.893 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0178 nonsynonymous_SNV exonic . 0.0247927 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D T . . 0.0170 Name\x3d98.370116 2 +2 179404786 na A T 26 0.232628 0.1532 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1476 . ncRNA_intronic . 0.176259 . . . . . . . . 0.1464 Name\x3d96.277699 -1 +2 179406003 na C A 56 0.504593 0.2274 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2808 . ncRNA_intronic . 0.185942 . . . . . . . 0.06 0.2102 Name\x3d96.588161 -1 +2 179406191 TTN C T 26 0.209265 0.1528 5.326 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1476 nonsynonymous_SNV exonic . 0.170593 T . . . D D . . 0.1453 Name\x3d97.437378 4 +2 179407663 TTN G A 2 0.00119808 0.0008 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0006662 . . . . . . . . 0.0012 Name\x3d98.824661 3 +2 179408713 TTN A G 11 0.115815 0.0308 2.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0344 nonsynonymous_SNV exonic . 0.0767002 T . . . B T . . 0.0322 Name\x3d97.837078 2.5 +2 179410282 TTN A G 3 0.00559105 0.0143 2.442 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0158 nonsynonymous_SNV exonic . 0.0104979 T . . . P T . . 0.0159 Name\x3d98.023311 2.5 +2 179410468 na A G 2 0.00599042 0.0016 . . . . . . . 0.0017 . ncRNA_intronic . 0.0035446 . . . . . . . . 0.0020 . 0 +2 179410666 TTN G A 2 0.00599042 0.0016 2.870 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003661 T . . . D D . . 0.0019 Name\x3d97.604288 6 +2 179410704 TTN G A 1 0.00219649 0.0104 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0118 synonymous_SNV exonic . 0.0077554 . . . . . . . . 0.0108 Name\x3d98.115024 1 +2 179410815 TTN G A 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0017 synonymous_SNV exonic . 0.0035575 . . . . . . . . 0.0019 Name\x3d98.040376 3 +2 179411011 TTN T C 3 0.0223642 0.0238 1.667 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0243658 T . . . D T . . 0.0205 Name\x3d98.009037 1 +2 179411207 TTN A T 1 0.00179712 0.0032 2.403 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0038 nonsynonymous_SNV exonic . 0.0029236 T . . . D T . . 0.0035 Name\x3d98.551689 3 +2 179411212 TTN G A 1 0.000399361 0.0014 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0011319 . . . . . . . . 0.0015 Name\x3d98.603683 3 +2 179411665 na A G 41 0.327476 0.1720 . . . . . . . 0.1702 . ncRNA_intronic rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737 0.217481 . . . . . . . . 0.1683 . -2 +2 179412966 TTN G A 3 0.00898562 0.0315 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0322 synonymous_SNV exonic . 0.0213839 . . . . . . . . 0.0284 Name\x3d98.418712 1 +2 179413110 TTN G A 26 0.234225 0.1529 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1474 synonymous_SNV exonic . 0.174946 . . . . . . . . 0.1460 Name\x3d98.849898 1 +2 179413452 TTN G A 7 0.0121805 0.0242 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0280 synonymous_SNV exonic . 0.0200321 . . . . . . . . 0.0315 Name\x3d98.693281 1 +2 179413657 TTN A G 1 0.000199681 0.0004 2.176 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 nonsynonymous_SNV exonic . 0.0002393 T . . . B D . . 0.0004 Name\x3d98.663835 5 +2 179414177 TTN G A 1 0.00199681 0.0036 2.180 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0024838 D . . . D D . . 0.0023 Name\x3d97.875263 6 +2 179414318 TTN C T 10 0.15016 0.0302 2.929 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0338 nonsynonymous_SNV exonic . 0.0856975 T . . . D D . . 0.0308 Name\x3d97.748916 4 +2 179414633 na C A 41 0.323482 0.1721 . . . . . . . 0.1686 . ncRNA_intronic . 0.213367 . . . . . . . . 0.1680 . -2 +2 179414705 na A T 3 0.0223642 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0267 . ncRNA_intronic . 0.0248574 . . . . . . . 0.114 0.0196 Name\x3d95.211971 -1 +2 179414800 TTN C T 2 0.00599042 0.0016 3.867 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0036675 T . . . D D . . 0.0019 Name\x3d98.128310 6 +2 179415013 na G A 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . ncRNA_intronic . 0.0036351 . . . . . . . . 0.0015 . 0 +2 179415833 TTN G A 1 0.000199681 0.0001 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001682 . . . . . . . . . Name\x3d98.056252 5 +2 179415942 TTN A C 1 0.000199681 . 3.814 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d98.531104 5 +2 179416556 TTN A C 11 0.152356 0.0319 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0863702 . . . . . . . . 0.0328 Name\x3d98.389048 1 +2 179416801 TTN A C 2 0.00599042 0.0016 1.496 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0035705 T . . . D D . . 0.0019 Name\x3d97.689141 6 +2 179417091 TTN C T 2 0.0061901 0.0019 3.757 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036481 T . . . D D . . 0.0020 Name\x3d97.651739 6 +2 179417415 TTN C T 1 0.000199681 . 1.435 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.316310 6.5 +2 179417633 TTN C T 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0018 synonymous_SNV exonic . 0.0037063 . . . . . . . . 0.0019 Name\x3d98.539530 3 +2 179418144 na C T 1 0.000199681 6.488e-05 . . . . . . . 0.0002 . ncRNA_intronic . 7.12e-05 . . . . . . . . 0.0001 . 2 +2 179418306 TTN C T 1 0.000199681 0.0009 3.208 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0010 Name\x3d98.550306 4.5 +2 179419342 TTN G A 1 0.000199681 . 4.209 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d97.504981 8 +2 179419792 TTN G A 3 0.00179712 0.0076 3.106 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0037 nonsynonymous_SNV exonic . 0.0028201 T . . . D T . . 0.0045 Name\x3d97.072213 7 +2 179421609 TTN C T 10 0.0842652 0.0291 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0328 synonymous_SNV exonic . 0.066364 . . . . . . . . 0.0291 Name\x3d96.675892 1 +2 179421694 TTN A G 56 0.507188 0.2273 -0.530 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2312 nonsynonymous_SNV exonic . 0.33788 T . . . B T . . 0.2206 Name\x3d96.436715 2.5 +2 179422073 TTN G A 1 0.000199681 . 2.379 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d96.873272 8 +2 179422181 TTN C T 1 0.00259585 0.0040 2.139 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0025 nonsynonymous_SNV exonic . 0.0030401 T . . . B T . . 0.0010 Name\x3d97.464763 4.5 +2 179422286 na C A 1 0.000798722 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0028 . ncRNA_intronic . 0.001837 . . . . . . 0.0001 0.044 0.0025 Name\x3d95.739189 1 +2 179422669 TTN G T 2 0.00219649 0.0007 1.974 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0010026 D . . . D D . . 0.0001 Name\x3d97.344853 6 +2 179422834 TTN C A 1 0.000199681 . 1.943 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d97.338187 5 +2 179423099 TTN A G 3 0.0223642 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0264 synonymous_SNV exonic . 0.0252713 . . . . . . . . 0.0208 Name\x3d98.386890 1 +2 179423168 TTN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.558322 5 +2 179424048 TTN T C 9 0.0161741 0.0341 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0312 synonymous_SNV exonic . 0.0231562 . . . . . . . . 0.0324 Name\x3d98.373604 1 +2 179424558 TTN C T 1 0.00279553 0.0103 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0112 synonymous_SNV exonic . 0.0086351 . . . . . . . . 0.0118 Name\x3d98.078554 1 +2 179424734 TTN C T 1 0.000199681 . 4.062 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d98.252257 8 +2 179424834 TTN C T 1 0.000199681 0.0001 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0001 synonymous_SNV exonic . 9.06e-05 . . . . . . . . 0.0001 Name\x3d97.728468 5 +2 179425470 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.697e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d97.156711 5 +2 179425988 TTN G A 2 0.000399361 0.0011 3.592 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0008667 T . . . D D . . 0.0007 Name\x3d97.935487 6 +2 179426219 TTN T C 1 0.000399361 0.0004 0.707 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance . . . 0.0004 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0002 Name\x3d98.338412 6.5 +2 179426596 TTN C T 2 0.000599042 0.0007 2.154 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006339 T . . . B T . . 0.0009 Name\x3d98.466657 4.5 +2 179426682 TTN T C 1 0.000199681 . . . . . . . . 1.856e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.480377 5 +2 179427186 TTN A G 57 0.508786 0.2291 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2325 synonymous_SNV exonic . 0.337078 . . . . . . . . 0.2228 Name\x3d97.378453 1 +2 179427536 TTN T C 57 0.508387 0.2291 0.936 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2347 nonsynonymous_SNV exonic . 0.337777 T . . . B T . . 0.2229 Name\x3d96.753193 2.5 +2 179428119 TTN C T 4 0.00778754 0.0098 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0077 synonymous_SNV exonic . 0.0081629 . . . . . . . . 0.0073 Name\x3d96.961404 7 +2 179428299 TTN G T 2 0.00579073 0.0016 1.633 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003564 T . . . D D . . 0.0018 Name\x3d98.365337 6 +2 179429004 TTN G A 3 0.0221645 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0256 synonymous_SNV exonic . 0.0243399 . . . . . . . . 0.0206 Name\x3d96.521228 1 +2 179429301 TTN A G 1 0.00299521 0.0047 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0056 synonymous_SNV exonic . 0.005194 . . . . . . . . 0.0065 Name\x3d96.694037 3 +2 179429612 TTN A G 2 0.000599042 0.0005 1.929 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . 0.0007 Name\x3d97.112428 3 +2 179430060 TTN G T 3 0.0221645 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0257 synonymous_SNV exonic . 0.0251484 . . . . . . . . 0.0206 Name\x3d96.002088 1 +2 179430105 TTN C T 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d96.614760 5 +2 179430137 TTN T G 1 0.000399361 0.0002 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0001294 . . . . . . . . . Name\x3d95.233752 5 +2 179430997 TTN G A 41 0.342252 0.1717 2.294 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1697 nonsynonymous_SNV exonic . 0.223128 T . . . P T . . 0.1669 Name\x3d97.147702 2.5 +2 179431076 TTN C G 8 0.00738818 0.0248 2.573 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0181 nonsynonymous_SNV exonic . 0.0144112 D . . . D D . . 0.0200 Name\x3d97.079100 4 +2 179431594 TTN A G 3 0.0223642 0.0238 1.803 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0250967 T . . . D D . . 0.0207 Name\x3d96.772015 4 +2 179431797 TTN A T 15 0.0926518 0.0187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0223 synonymous_SNV exonic . 0.0441391 . . . . . . . . 0.0208 Name\x3d97.244511 1 +2 179432004 TTN A G 2 0.00119808 0.0001 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0003428 . . . . . . . . 0.0009 Name\x3d98.118295 3 +2 179432185 TTN A G 52 0.129992 0.3247 3.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.3015 nonsynonymous_SNV exonic . 0.23653 T . . . P T . . 0.3030 Name\x3d97.904737 2.5 +2 179433221 TTN T C 3 0.0223642 0.0238 0.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0250902 T . . . B T . . 0.0209 Name\x3d97.078343 2.5 +2 179433580 TTN T C 3 0.0223642 0.0238 0.998 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0253166 T . . . B T . . 0.0206 Name\x3d97.401979 2.5 +2 179433654 TTN C T 2 0.000399361 0.0005 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0008603 . . . . . . . . 0.0011 Name\x3d96.965696 3 +2 179434139 TTN A G 3 0.0223642 0.0238 1.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0251355 T . . . D T . . 0.0207 Name\x3d96.628499 1 +2 179434303 TTN A G 1 0.000199681 . 2.873 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance . . . 3.826e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . 0.0001 Name\x3d98.321363 6.5 +2 179434516 TTN C T 15 0.0792732 0.0183 2.413 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0223 nonsynonymous_SNV exonic . 0.0397602 T . . . P T . . 0.0202 Name\x3d98.098843 2.5 +2 179435337 TTN T G 11 0.143171 0.0316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0841645 . . . . . . . . 0.0327 Name\x3d96.850534 1 +2 179435418 TTN T C 1 0.00599042 0.0060 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0051 synonymous_SNV exonic . 0.0060737 . . . . . . . . 0.0059 Name\x3d98.050815 3 +2 179436020 TTN G A 26 0.208067 0.1512 3.394 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1452 nonsynonymous_SNV exonic . 0.169823 T . . . D D . . 0.1442 Name\x3d98.349158 4 +2 179436257 TTN T C 1 0.000399361 0.0004 0.906 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Uncertain_significance . . . 0.0004 nonsynonymous_SNV exonic . 0.0003234 T . . . B T . . 0.0002 Name\x3d98.506059 6.5 +2 179436303 TTN G C 1 0.000199681 . . . . . . . . 9.268e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.753032 5 +2 179437034 TTN C G 1 0.00159744 0.0060 2.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.003053 T . . . P T . . 0.0024 Name\x3d98.728459 4.5 +2 179438235 TTN T C 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.0027943 . . . . . . . . 0.0019 Name\x3d98.052107 3 +2 179438866 TTN C T 9 0.0978435 0.0292 4.024 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0328 nonsynonymous_SNV exonic . 0.0704842 T . . . D D . . 0.0292 Name\x3d98.246934 4 +2 179439511 TTN C T 1 0.000199681 6.486e-05 4.171 MedGen:CN517202 not_provided Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 T . . . D D . . . Name\x3d98.890331 8 +2 179440029 TTN G A 50 0.146565 0.3221 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2981 synonymous_SNV exonic . 0.237216 . . . . . . . . 0.2975 Name\x3d98.031764 1 +2 179440182 TTN A G 1 0.000599042 0.0071 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0045 synonymous_SNV exonic . 0.0029042 . . . . . . . . 0.0051 Name\x3d97.883991 3 +2 179441119 TTN G A 1 0.00778754 6.483e-05 2.369 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 3.815e-05 nonsynonymous_SNV exonic . 0.002238 T . . . B T . . 0.0001 Name\x3d97.104464 4.5 +2 179441295 TTN T C 1 0.00299521 0.0073 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0095 nonsynonymous_SNV exonic . 0.0073091 D . . . D D . . 0.0092 Name\x3d97.654685 6 +2 179441738 TTN A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.766990 5 +2 179441932 TTN G A 1 0.000998403 0.0051 2.114 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0034023 D . . . P D . . 0.0052 Name\x3d98.158697 6 +2 179442292 na TA T 26 0.0678914 0.1117 . . . . . . . 0.1652 . ncRNA_intronic . 0.002335 . . . . . . . . 0.1192 . -2 +2 179442784 TTN C G 1 0.000798722 0.0021 2.997 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0027 nonsynonymous_SNV exonic . 0.0019211 D . . . D D . . 0.0031 Name\x3d98.280985 6 +2 179443540 TTN A G 11 0.135982 0.0317 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0825474 . . . . . . . . 0.0327 Name\x3d98.237475 1 +2 179444137 na A G 42 0.347444 0.1730 . MedGen:CN169374 not_specified Benign . . . 0.1733 . ncRNA_intronic . 0.226271 . . . . . . . . 0.1688 . -2 +2 179444166 na G A 1 0.000399361 . . . . . . . . 7.811e-05 . ncRNA_intronic . 8.41e-05 . . . . . . . . . . 2 +2 179444289 TTN A G 5 0.0283546 0.0256 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0276 synonymous_SNV exonic . 0.0290553 . . . . . . 0.0001 0.016 0.0225 Name\x3d97.948089 1 +2 179444626 na A C 3 0.0223642 0.0240 . . . . . . . 0.0258 . ncRNA_intronic . 0.0250191 . . . . . . . . 0.0207 . -2 +2 179444768 TTN C G 214 0.994609 0.9999 -0.011 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9997 nonsynonymous_SNV exonic . 0.947562 T . . . B T . . 0.9999 Name\x3d98.226625 2.5 +2 179444939 TTN C T 48 0.351238 0.1781 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1782 nonsynonymous_SNV exonic . 0.233192 T . . . B T . . 0.1769 Name\x3d97.290230 2.5 +2 179446381 TTN C T 8 0.00579073 0.0177 3.234 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0229 nonsynonymous_SNV exonic . 0.015168 T . . . B T . . 0.0219 Name\x3d97.423139 2.5 +2 179447848 TTN T C 58 0.513778 0.2299 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2388 synonymous_SNV exonic . 0.339782 . . . . . . . . 0.2244 Name\x3d96.583328 1 +2 179448315 na A C 5 0.0391374 0.0257 . MedGen:CN169374 not_specified Benign . . . 0.0401 . ncRNA_exonic . 0.0308664 . . . . . . . . 0.0227 . -2 +2 179448967 na A AAAC 5 0.0920527 0.0247 . . . . . . . 0.0271 . ncRNA_intronic . 0.002031 . . . . . . . . 0.0237 . -2 +2 179449131 TTN G A 7 0.0107827 0.0350 3.355 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0377 nonsynonymous_SNV exonic . 0.0270889 T . . . P D . . 0.0426 Name\x3d98.438228 1 +2 179449186 TTN G A 2 0.0129792 0.0016 4.103 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0036 nonsynonymous_SNV exonic . 0.0079624 T . . . D T . . 0.0028 Name\x3d98.684260 1 +2 179449579 TTN C T 2 0.00599042 0.0016 2.898 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003661 D . . . D D . . 0.0019 Name\x3d98.610841 6 +2 179451420 TTN G A 56 0.507588 0.2261 3.015 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2315 nonsynonymous_SNV exonic . 0.336522 T . . . B T . . 0.2197 Name\x3d97.427326 2.5 +2 179451906 TTN G A 2 0.0131789 0.0058 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0091525 . . . . . . . . 0.0053 Name\x3d97.456756 1 +2 179453429 TTN G A 4 0.00579073 0.0124 -0.383 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0140 nonsynonymous_SNV exonic . 0.0097153 T . . . B T . . 0.0163 Name\x3d98.010315 2.5 +2 179454394 TTN A G 57 0.51238 0.2297 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2340 synonymous_SNV exonic . 0.335668 . . . . . . . . 0.2249 Name\x3d98.402423 1 +2 179454530 TTN C T 1 0.000998403 0.0040 3.623 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0043 nonsynonymous_SNV exonic . 0.0025614 T . . . D D . . 0.0043 Name\x3d98.527623 6 +2 179455207 TTN T C 57 0.51238 0.2297 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2345 synonymous_SNV exonic . 0.339491 . . . . . . . . 0.2242 Name\x3d97.804101 1 +2 179455352 TTN C T 1 0.00119808 0.0044 3.890 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0066 nonsynonymous_SNV exonic . 0.0037839 T . . . D D . . 0.0043 Name\x3d97.286035 6 +2 179455595 TTN T C 1 0.000199681 . 0.486 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.384777 6.5 +2 179456310 na C G 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179457147 TTN G A 27 0.213059 0.1522 2.159 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1466 nonsynonymous_SNV exonic . 0.168329 T . . . B T . . 0.1473 Name\x3d98.571913 2.5 +2 179457446 na A G 20 0.10004 0.0251 . . . . . . . . . ncRNA_intronic . 0.0093207 . . . . . . . . . . -2 +2 179457457 na G T 1 0.000199681 . . . . . . . . 1.846e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179457928 TTN G T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.299100 5 +2 179458591 TTN C T 27 0.21246 0.1521 4.706 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1469 nonsynonymous_SNV exonic . 0.17005 T . . . D D . . 0.1473 Name\x3d97.179832 4 +2 179460433 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0035963 . . . . . . . . 0.0018 Name\x3d97.061917 3 +2 179460557 na A T 5 0.0285543 0.0254 . . . . . . . 0.0383 . ncRNA_intronic . 0.0235702 . . . . . . . . 0.0208 . -2 +2 179462494 TTN A G 50 0.126997 0.3239 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.3004 synonymous_SNV exonic . 0.234699 . . . . . . . . 0.3001 Name\x3d96.777310 1 +2 179462580 na T C 1 0.000199681 6.484e-05 . . . . . . . 1.847e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179462796 na A G 1 0.000199681 6.48e-05 . MedGen:CN169374 not_specified Likely_benign . . . 1.844e-05 . ncRNA_intronic . 6.5e-06 . . . . . . 0.0012 0.106 . . 2 +2 179463422 na A G 1 0.00219649 0.0080 . . . . . . . 0.0096 . ncRNA_intronic . 0.005912 . . . . . . . . 0.0103 . -2 +2 179463446 na T TA 9 0.0265575 0.0296 . . . . . . . 0.0324 . ncRNA_intronic . 0.0010479 . . . . . . . . 0.0295 . -2 +2 179463823 na T A 5 0.00658946 0.0066 . . . . . . . 0.0079 . ncRNA_intronic . 0.0012225 . . . . . . . . 0.0065 . 8 +2 179463991 TTN C T 1 0.00359425 0.0106 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0086933 . . . . . . . . 0.0110 Name\x3d98.229485 1 +2 179464245 na A G 5 0.0285543 0.0255 . . . . . . . 0.0280 . ncRNA_intronic . 0.0270566 . . . . . . . . 0.0225 . -2 +2 179464527 TTN T C 57 0.51278 0.2300 2.157 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2354 nonsynonymous_SNV exonic . 0.340966 T . . . B T . . 0.2261 Name\x3d98.386272 2.5 +2 179464637 na A T 1 0.00219649 0.0021 . . . . . . . . . ncRNA_intronic . 0.0002652 . . . . . . . . . . 0 +2 179465706 TTN A T 1 0.000199681 0.0004 1.091 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0004592 T . . . P D . . 0.0007 Name\x3d98.204063 3 +2 179466859 TTN A G 1 0.000599042 0.0001 2.502 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Uncertain_significance . . . 9.266e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . P D . . . Name\x3d98.970412 3 +2 179467070 TTN A G 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 7.385e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.808645 5 +2 179467226 TTN G C 3 0.00159744 0.0005 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0016 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0007 Name\x3d98.876456 7 +2 179468704 TTN A G 2 0.000798722 0.0014 1.896 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005563 T . . . B T . . 0.0008 Name\x3d98.668818 4.5 +2 179469386 na A G 12 0.119209 0.0365 . . . . . . . 0.0420 . ncRNA_intronic . 0.0654519 . . . . . . . . 0.0358 . -2 +2 179470047 na C A 7 0.0832668 0.0117 . . . . . . . 0.0151 . ncRNA_exonic . 0.0332143 . . . . . . . . 0.0133 . -2 +2 179472223 TTN A G 3 0.00459265 0.0147 2.046 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0171 nonsynonymous_SNV exonic . 0.0122832 D . . . D D . . 0.0143 Name\x3d98.157111 4 +2 179472292 TTN T A 3 0.0295527 0.0232 1.552 . . . . . . 0.0261 nonsynonymous_SNV exonic . 0.0269919 T . . . B T . . 0.0204 Name\x3d97.739847 2.5 +2 179472319 TTN C T 1 0.00119808 0.0018 3.630 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0026 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0030 Name\x3d97.771092 6 +2 179472693 TTN A G 3 0.0305511 0.0231 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0263 synonymous_SNV exonic . 0.0282079 . . . . . . . . 0.0205 Name\x3d98.031019 1 +2 179472825 na T C 14 0.0107827 0.0208 . MedGen:CN169374 not_specified Benign . . . 0.0246 . ncRNA_intronic . 0.0158148 . . . . . . . . 0.0226 . -2 +2 179473238 na C A 1 0.000199681 0.0002 . . . . . . . 0.0004 . ncRNA_intronic . 0.0002652 . . . . . . . . . . 2 +2 179473705 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179474075 TTN C T 1 0.000199681 . 3.675 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d97.878535 8 +2 179474466 TTN C T 3 0.0299521 0.0232 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0263 synonymous_SNV exonic . 0.0266361 . . . . . . . . 0.0204 Name\x3d98.156662 1 +2 179474668 TTN G A 7 0.0726837 0.0114 3.431 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0142 nonsynonymous_SNV exonic . 0.0323605 T . . . D D . . 0.0131 Name\x3d98.569477 4 +2 179474787 na T C 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0036804 . . . . . . . . 0.0019 . 0 +2 179477267 TTN T G 3 0.00638978 0.0202 1.693 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0232 nonsynonymous_SNV exonic . 0.015472 T . . . P T . . 0.0198 Name\x3d98.093837 2.5 +2 179477332 na ATT AT 55 . . . . . . . . . . . ncRNA_intronic . . . . . . . . . . . . 12 +2 179477435 na C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179477476 na T G 5 0.0361422 0.0251 . . . . . . . 0.0318 . ncRNA_intronic . 0.031041 . . . . . . . . 0.0219 . -2 +2 179477529 TTN C G 2 0.00599042 0.0016 2.501 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.0037192 T . . . D T . . 0.0019 Name\x3d98.127878 3 +2 179477717 TTN A G 7 0.0736821 0.0114 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0142 synonymous_SNV exonic . 0.0325352 . . . . . . . . 0.0130 Name\x3d97.645943 1 +2 179477802 na G A 1 0.000599042 . . . . . . . . 5.547e-05 . ncRNA_intronic . 3.88e-05 . . . . . . 0.0267 0.274 . Name\x3d96.501613 1 +2 179478639 TTN T A 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0018 synonymous_SNV exonic . 0.0036869 . . . . . . . . 0.0019 Name\x3d98.081437 3 +2 179478829 TTN C T 1 0.000199681 . 3.307 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d98.888834 8 +2 179479118 na A AT 5 0.0365415 0.0251 . . . . . . . 0.0277 . ncRNA_exonic . 0.0009444 . . . . . . . . 0.0227 . -2 +2 179479245 TTN C T 7 0.072484 0.0113 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0142 synonymous_SNV exonic . 0.0318883 . . . . . . . . 0.0127 Name\x3d98.166193 1 +2 179479741 na G A 4 0.0938498 0.0227 . . . . . . . 0.0314 . ncRNA_intronic . 0.0536604 . . . . . . . . 0.0209 . -2 +2 179482089 TTN C T 1 0.00299521 0.0067 4.000 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0157 nonsynonymous_SNV exonic . 0.0064359 T . . . D D . . 0.0088 Name\x3d98.383064 4 +2 179482280 na G A 1 0.000199681 . . . . . . . . 4.665e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179482309 na CAATT C 7 0.081869 0.0116 . . . . . . . . . ncRNA_intronic . 0.0056862 . . . . . . . . . . -2 +2 179482533 TTN G T 2 0.00599042 0.0016 1.986 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036804 T . . . B T . . 0.0019 Name\x3d97.907411 4.5 +2 179482852 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179482937 TTN C T 1 0.000599042 0.0026 2.837 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0025 nonsynonymous_SNV exonic . 0.0018046 T . . . D T . . 0.0023 Name\x3d98.210362 3 +2 179482994 TTN G A 4 0.00139776 0.0038 2.977 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0034 nonsynonymous_SNV exonic . 0.0024644 D . . . D D . . 0.0029 Name\x3d97.859568 10 +2 179483040 TTN C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.198089 5 +2 179484892 na T A 5 0.0363419 0.0249 . . . . . . . . . ncRNA_exonic . 0.0053428 . . . . . . . . . . -2 +2 179485521 TTN A T 1 0.000199681 . -1.228 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.639538 6.5 +2 179485599 TTN A G 5 0.0363419 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0278 synonymous_SNV exonic . 0.0312739 . . . . . . . . 0.0224 Name\x3d98.705858 1 +2 179485707 TTN G A 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.669136 5 +2 179486037 TTN C A 1 0.00219649 0.0070 3.020 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0068 nonsynonymous_SNV exonic . 0.0048253 T . . . D D . . 0.0086 Name\x3d98.183556 6 +2 179486376 TTN C T 2 0.00339457 0.0016 4.195 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0027943 T . . . D D . . 0.0019 Name\x3d97.755334 6 +2 179486478 MIR548N T C 1 0.00219649 0.0106 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0124 . ncRNA_intronic . 0.0078136 . . . . . . 0.5138 0.574 0.0109 . -2 +2 179487314 MIR548N C CT 5 0.0391374 0.0251 . . . . . . . . . ncRNA_intronic . 0.0003074 . . . . . . . . . . -2 +2 179495795 TTN C T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.821571 5 +2 179497025 TTN A G 2 0.0395367 0.0039 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0066 synonymous_SNV exonic . 0.0166169 . . . . . . . . 0.0036 Name\x3d97.940713 1 +2 179497133 TTN C T 3 0.00698882 0.0427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0345 synonymous_SNV exonic . 0.0189713 . . . . . . . . 0.0290 Name\x3d98.156356 1 +2 179498022 TTN G A 1 0.00119808 6.487e-05 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0001 Name\x3d98.742230 3 +2 179498042 TTN T C 25 0.0509185 0.1113 2.465 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1042 nonsynonymous_SNV exonic . 0.082748 T . . . D T . . 0.1098 Name\x3d98.774815 1 +2 179498303 TTN T C 4 0.109425 0.0233 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0249 synonymous_SNV exonic . 0.0678969 . . . . . . . . 0.0211 Name\x3d98.865320 1 +2 179499038 MIR548N A G 4 0.109625 0.0232 . . . . . . . . . ncRNA_intronic . 0.0115716 . . . . . . . . . . -2 +2 179499530 TTN T C 3 0.0305511 0.0233 1.512 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0260 nonsynonymous_SNV exonic . 0.0279751 T . . . B T . . 0.0205 Name\x3d98.890441 2.5 +2 179500629 MIR548N C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179500777 TTN C T 1 0.000399361 0.0005 2.678 Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Muscular_Diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003881 T . . . B T . . 0.0004 Name\x3d98.861749 4.5 +2 179500790 TTN A G 5 0.0365415 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0278 synonymous_SNV exonic . 0.031455 . . . . . . . . 0.0220 Name\x3d98.936296 1 +2 179501351 TTN G A 2 0.00119808 0.0043 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0052 synonymous_SNV exonic . 0.0032276 . . . . . . . . 0.0043 Name\x3d98.670542 3 +2 179505896 MIR548N A G 5 0.0365415 0.0248 . . . . Name\x3dENSR00000629524|Enhancer . . . . ncRNA_intronic . 0.004573 . . . . . . . . . Name\x3d95.322958 0 +2 179506911 MIR548N G A 2 0.00119808 0.0008 . . . . . . . 0.0018 . ncRNA_intronic . 0.0003428 . . . . . . . . . . 0 +2 179509245 MIR548N T C 3 0.00159744 0.0005 . . . . . . . 0.0023 . ncRNA_intronic . 0.000718 . . . . . . . . 0.0007 . 4 +2 179510833 MIR548N A T 4 0.10603 0.0048 . . . . . . . . . ncRNA_intronic . 7.68e-05 . . . . . . . . . . -2 +2 179513923 MIR548N A T 4 0.0934505 0.0229 . . . . . . . . . ncRNA_intronic . 0.0101292 . . . . . . . . . . -2 +2 179513966 MIR548N G A 1 0.000199681 6.507e-05 . . . . . . . 0.0003 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 +2 179514208 MIR548N G A 5 0.0327476 0.0073 . . . . . . . . . ncRNA_intronic . 0.0025614 . . . . . . . . . . -2 +2 179514420 MIR548N G A 3 0.0305511 0.0232 . . . . . . . . . ncRNA_intronic . 0.024781 . . . . . . . . . . -2 +2 179514433 MIR548N T C 51 0.32488 0.1999 . . . . . . . . . ncRNA_intronic . 0.0458015 . . . . . . . . . . -2 +2 179514479 MIR548N C T 2 0.00119808 0.0048 . . . . . . . . . ncRNA_intronic . 0.001022 . . . . . . . . . . 0 +2 179514508 MIR548N A C 3 0.0305511 0.0233 . . . . . . . 0.0260 . ncRNA_intronic . 0.027477 . . . . . . . . 0.0195 . -2 +2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 5 0.033147 0.0078 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0113 nonframeshift_deletion exonic . 0.000401 . . . . . . . . 0.0049 Name\x3d97.840239,97.958201 1 +2 179515437 MIR548N T G 3 0.0307508 0.0233 . . . . . . . 0.0355 . ncRNA_intronic . 0.0230721 . . . . . . . . 0.0198 . -2 +2 179515472 MIR548N G A 2 0.00159744 0.0095 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0192 . ncRNA_intronic . 0.0054398 . . . . . . . 0.004 0.0091 Name\x3d96.757213 -1 +2 179515475 MIR548N T C 1 0.000199681 . . . . . . . . 9.423e-05 . ncRNA_intronic . 1.94e-05 . . . . . . 0.9964 0.846 . Name\x3d96.757213 4 +2 179515483 TTN G C 2 0.0393371 0.0040 0.743 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0106 nonsynonymous_SNV exonic . 0.0160865 T . . . B T . . 0.0034 Name\x3d95.484665 2.5 +2 179516580 MIR548N G C 3 0.00838658 0.0215 . . . . . . . 0.0308 . ncRNA_intronic . 0.0199092 . . . . . . . . 0.0231 . -2 +2 179516690 TTN G A 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 4.547e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d96.880171 5 +2 179517019 TTN A T 1 0.00279553 0.0106 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0119 synonymous_SNV exonic . 0.0081694 . . . . . . . . 0.0110 Name\x3d97.299074 1 +2 179517105 MIR548N G A 1 0.000199681 . . . . . . . . 1.845e-05 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 +2 179517605 TTN G A 1 0.00638978 0.0060 1.597 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0051 nonsynonymous_SNV exonic . 0.0058925 . . . . . . . . 0.0068 Name\x3d95.465734 4.5 +2 179517632 TTN G A 2 0.00259585 0.0007 1.228 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0010155 . . . . . . . . 0.0003 . 3.5 +2 179517654 TTN T C 5 0.0365415 0.0250 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 synonymous_SNV exonic . 0.030226 . . . . . . . . . Name\x3d96.078236 1 +2 179517725 MIR548N T G 1 0.000199681 . . . . . . . . 3.788e-05 . ncRNA_intronic . 2.59e-05 . . . . . . . . . . 2 +2 179518003 TTN A G 10 0.117013 0.0478 -0.768 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0539 nonsynonymous_SNV exonic . 0.0002458 . . . . . . . . . . 1.5 +2 179518170 TTN T G 1 0.000199681 . 0.677 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 5.5 +2 179518273 MIR548N G A 1 0.00159744 0.0109 . . . . . . . 0.0065 . ncRNA_intronic . 0.0006209 . . . . . . . . . . -2 +2 179518854 MIR548N G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0035511 . . . . . . . . . . 0 +2 179518911 MIR548N TAGC T 42 0.109425 0.2015 . . . . . . . 0.1919 . ncRNA_intronic . 0.0009573 . . . . . . . . . . -2 +2 179519086 MIR548N A T 1 0.0413339 0.0043 . . . . . . . . . ncRNA_intronic . 0.0102966 . . . . . . . . . . -2 +2 179519330 MIR548N C A 11 0.103035 0.0156 . . . . . . . . . ncRNA_intronic . 0.0198248 . . . . . . . . . . -2 +2 179519351 MIR548N T C 11 0.102436 0.0135 . . . . . . . . . ncRNA_intronic . 0.0217074 . . . . . . . . . . -2 +2 179522337 MIR548N G A 5 0.136581 0.0087 . . . . . . . 0.0002 . ncRNA_intronic . 0.0050452 . . . . . . . . . . -2 +2 179522377 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179522513 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179522795 MIR548N A G 1 0.000199681 . . . . . . . . 3.885e-05 . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179523368 MIR548N G A 51 0.0680911 0.1885 . . . . . . . . . ncRNA_intronic . 0.0388428 . . . . . . . . . . -2 +2 179527095 TTN G A 4 0.0091853 0.0177 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0275 nonsynonymous_SNV exonic . 0.0137967 . . . . . . . . . . 1.5 +2 179527475 TTN C T 5 0.0329473 0.0063 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 0.0556 synonymous_SNV exonic . 0.0011578 . . . . . . . . . Name\x3d95.326013 1 +2 179528068 TTN C A 2 0.057508 0.0041 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0064 nonsynonymous_SNV exonic . 0.0234538 T . . . P . . . 0.0045 Name\x3d95.654090 2.5 +2 179528335 MIR548N T C 4 0.0698882 0.0228 . . . . . . . 0.0248 . ncRNA_intronic . 0.0559566 . . . . . . . . 0.0221 . -2 +2 179528378 TTN C T 14 0.259185 0.0575 2.900 MedGen:CN169374 not_specified Benign . . . 0.0642 nonsynonymous_SNV exonic . 0.135956 T . . . . . . . 0.0560 . 1.5 +2 179529273 MIR548N A G 5 0.0367412 0.0249 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 . ncRNA_intronic . 0.030834 . . . . . . 0.0005 0.084 0.0218 . -2 +2 179529497 MIR548N T G 5 0.0369409 0.0249 . . . . . . . 0.0284 . ncRNA_intronic . 0.0304977 . . . . . . . . 0.0216 . -2 +2 179529584 TTN A T 1 0.000199681 . 2.012 . . . . . . 2.134e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D . . . . Name\x3d95.139021 5 +2 179531693 MIR548N A G 3 0.0309505 0.0233 . . . . . . . . . ncRNA_intronic . 0.0048512 . . . . . . . . . . -2 +2 179534224 MIR548N C T 1 0.000399361 0.0001 . . . . . . . 6.467e-05 . ncRNA_intronic . 7.12e-05 . . . . . . . . . . 2 +2 179534225 MIR548N G A 3 0.00838658 0.0217 . . . . . . . . . ncRNA_intronic . 0.0032923 . . . . . . . . . . -2 +2 179535068 MIR548N T C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179537200 TTN C T 1 0.000998403 0.0043 2.829 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0064 nonsynonymous_SNV exonic . 0.0034152 T . . . B T . . 0.0036 Name\x3d96.025657 4.5 +2 179538492 MIR548N C T 1 0.000798722 0.0053 . . . . . . . . . ncRNA_intronic . 0.0005627 . . . . . . . . 0.0016 . 0 +2 179539803 TTN G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.084435 5 +2 179539812 TTN T G 2 0.00599042 0.0016 1.654 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036869 T . . . B T . . 0.0018 . 3.5 +2 179539903 MIR548N C A 54 0.471246 0.2179 . . . . . . . . . ncRNA_intronic . 0.0584663 . . . . . . . . 0.2126 . -1 +2 179540461 TTN G T 3 0.00159744 0.0039 2.531 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.1039 nonsynonymous_SNV exonic . 0.0012613 . . . . . . . . . Name\x3d97.741684 2.5 +2 179541899 TTN C G 148 0.773363 0.7498 . . . . . . . 0.6667 . intronic . 0.111965 . . . . . . . . . . 0 +2 179542046 TTN A G 1 0.000199681 . . . . . . . . 0.0833 . intronic . 1.29e-05 . . . . . . . . . . 0 +2 179542068 TTN T C 4 0.0666933 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +2 179542674 TTN C T 1 0.00419329 0.0101 . . . . . . . 0.0094 . intronic . 0.0068628 . . . . . . . . 0.0094 . 0 +2 179543217 TTN C T 40 0.238419 0.1617 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.2426 synonymous_SNV exonic . 0.172566 . . . . . . . . 0.1604 Name\x3d97.837761 2 +2 179543382 TTN T G 1 0.000199681 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 +2 179543399 TTN C T 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 +2 179544427 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0021 . intronic . 0.0036351 . . . . . . . . 0.0017 . 2 +2 179544701 TTN A G 1 0.000199681 . 0.576 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1678488|N/A|GATA2|PAZAR . B T . . . Name\x3d97.359923 7.5 +2 179544983 TTN C G 1 0.00159744 0.0019 1.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign . . . 0.0023 nonsynonymous_SNV exonic . 0.0015718 T . . . B T . . 0.0033 Name\x3d97.235671 4.5 +2 179545107 TTN C T 1 0.000399361 0.0003 . . . . . . . 0.0001 . intronic . 0.0001294 . . . . . . . . 0.0002 . 4 +2 179545177 TTN C T 1 0.00199681 0.0012 . . . . . . . . . intronic . 0.0002846 . . . . . . . . . . 2 +2 179545859 TTN C T 49 0.125998 0.3249 2.302 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.3004 nonsynonymous_SNV exonic . 0.234117 T . . . B T . . 0.3031 Name\x3d95.885390 2.5 +2 179547455 TTN T C 3 0.00459265 0.0091 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0080 synonymous_SNV exonic . 0.0056985 . . . . . . . . 0.0086 . 6 +2 179547465 TTN C T 2 0.00139776 0.0012 1.213 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0009508 T . . . B T . . 0.0011 . 3.5 +2 179547860 TTN A G 45 0.284944 0.1709 . . . . . . . . . intronic . 0.0357693 . . . . . . . . . . 0 +2 179548633 TTN C CT 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0003842 . . . . . . . . . . 2 +2 179548704 TTN T C 1 0.000798722 0.0029 . . . . . . . 0.0027 . intronic . 0.0017982 . . . . . . . . 0.0022 . 2 +2 179549048 TTN C T 1 0.00279553 0.0106 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0125 . intronic . 0.0081629 . . . . . . . . 0.0111 . 0 +2 179549131 TTN C T 6 0.00539137 0.0169 2.951 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0178 nonsynonymous_SNV exonic . 0.0120956 T . . . B T . . 0.0180 Name\x3d96.899228 2.5 +2 179549407 TTN G A 4 0.00179712 0.0062 2.586 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0074 nonsynonymous_SNV exonic . 0.0051552 T . . . B D . . 0.0059 Name\x3d96.752270 7 +2 179549474 TTN G A 1 0.000199681 0.0004 2.695 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003752 T . . . B T . . 0.0001 Name\x3d96.561560 6.5 +2 179549500 TTN A G 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036869 . . . . . . . . 0.0020 . 2 +2 179549608 TTN G GA 2 0.00599042 0.0016 . . . . . . . 0.0025 . intronic . 0.0033505 . . . . . . . . 0.0022 . 2 +2 179549707 TTN G A 1 0.000798722 0.0023 2.765 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign . . . 0.0047 nonsynonymous_SNV exonic . 0.0016106 T . . . B T . . 0.0021 Name\x3d98.297516 4.5 +2 179550069 TTN T C 5 0.0329473 0.0073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0109 . intronic . 0.00815 . . . . . . 0.0006 0.168 0.0089 Name\x3d97.283838 1 +2 179550302 TTN C T 1 0.000199681 . 2.215 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d95.885663 6.5 +2 179550393 TTN T G 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 +2 179553542 TTN G T 6 0.00539137 0.0173 . . . . . . . 0.0183 . intronic . 0.0123737 . . . . . . . . 0.0187 . 0 +2 179553566 TTN A G 5 0.00658946 0.0065 . . . . . . . . . intronic . 0.0013583 . . . . . . . . . . 10 +2 179553730 TTN ATTTTTTTT A 7 0.110423 . . . . . . . . 0.0007 . intronic . 0.0001294 . . . . . . . . . . 0 +2 179553781 TTN T C 1 0.00139776 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . 0.9996 0.986 . Name\x3d96.841759 4 +2 179553787 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 +2 179553790 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 +2 179553793 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.738733 3 +2 179553917 TTN G A 14 0.261581 0.0574 . . . . . . . . . intronic . 0.0241459 . . . . . . . . 0.0550 . 0 +2 179554305 TTN C T 63 0.413339 0.3829 4.097 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.3711 nonsynonymous_SNV exonic . 0.373372 T . . . . T . . 0.3605 Name\x3d96.163603 2.5 +2 179554549 TTN G C 1 0.000599042 0.0002 1.700 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . 0.0001 Name\x3d96.390007 3 +2 179558282 TTN T A 50 0.322284 0.1945 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +2 179558366 TTN T C 55 0.477835 0.2276 1.533 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2475 nonsynonymous_SNV exonic rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971 0.327027 T . . . . T . . 0.2286 Name\x3d95.986405 2.5 +2 179563622 TTN C T 2 0.00339457 . . . . . . . . . synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d96.845248 3 +2 179563702 TTN C T 8 0.00938498 0.0257 . . . . . . . . . intronic . 0.0161365 . . . . . . . . . . 0 +2 179566398 TTN C G 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . . 2 +2 179566802 TTN T TA 6 0.130192 0.0277 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0452 . intronic . 0.0024062 . . . . . . . . 0.0286 . 0 +2 179567230 TTN A G 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0036545 . . . . . . . . 0.0019 Name\x3d97.300910 3 +2 179567340 TTN G A 1 0.00119808 0.0104 2.770 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0055 nonsynonymous_SNV exonic . 0.0039391 T . . . B T . . 0.0041 Name\x3d97.130176 2.5 +2 179567431 TTN A C 1 0.00539137 0.0016 . . . . . . . 0.0031 . intronic . 0.0046312 . . . . . . . . 0.0035 . 2 +2 179569147 TTN T C 1 0.00219649 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0027 . intronic . 0.001824 . . . . . . . . 0.0032 . 2 +2 179569387 TTN T A 10 0.0105831 0.0301 2.427 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0252 nonsynonymous_SNV exonic . 0.0191459 T . . . B T . . 0.0266 Name\x3d95.881356 2.5 +2 179569400 TTN C T 5 0.0842652 0.0260 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0303 synonymous_SNV exonic . 0.0474444 . . . . . . . . 0.0243 Name\x3d97.068363 1 +2 179569436 TTN A G 5 0.096845 0.0263 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0313 synonymous_SNV exonic . 0.0518622 . . . . . . . . 0.0248 Name\x3d97.745865 1 +2 179569583 TTN T A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036739 . . . . . . . . 0.0018 . 2 +2 179569705 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . intronic . 0.0036675 . . . . . . 0.0004 0.008 0.0018 . 2 +2 179570114 TTN A T 5 0.0866613 0.0261 . . . . . . . 0.0379 . intronic . 0.0297732 . . . . . . . . 0.0227 . 0 +2 179570122 TTN C A 3 0.0513179 0.0239 . . . . . . . 0.0289 . intronic . 0.0215521 . . . . . . . . 0.0195 . 0 +2 179571448 TTN A G 5 0.127396 0.0255 2.835 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0284 nonsynonymous_SNV exonic . 0.0753807 T . . . B T . . 0.0261 Name\x3d97.246323 2.5 +2 179571697 TTN C T 5 0.0942492 0.0248 . MedGen:CN169374 not_specified Benign . . . 0.0393 . intronic . 0.0609436 . . . . . . . . 0.0239 . 0 +2 179572222 TTN G T 2 0.00898562 . . . . . . . . 2.179e-05 . intronic . 0.0002911 . . . . . . . . . . 2 +2 179572445 TTN C T 1 0.000199681 0.0001 3.339 MedGen:CN169374 not_specified Uncertain_significance . . . 9.21e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . P T . . . Name\x3d97.437924 6.5 +2 179574384 TTN C T 5 0.0752796 0.0257 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0297 synonymous_SNV exonic . 0.0460861 . . . . . . . . 0.0237 Name\x3d98.128889 1 +2 179575295 TTN C T 1 0.000199681 0.0010 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . . 2 +2 179575511 TTN C T 11 0.0273562 0.0549 3.915 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0508 nonsynonymous_SNV exonic . 0.0463448 T . . . B T . . 0.0570 Name\x3d98.412747 2.5 +2 179575949 TTN G T 28 0.0740815 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 7.38e-05 synonymous_SNV exonic rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678 0.0024062 . . . . . . . . . Name\x3d96.821472 1 +2 179576855 TTN A G 1 0.000998403 0.0005 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0007 synonymous_SNV exonic . 0.0006404 . . . . . . . . 0.0009 Name\x3d98.004203 3 +2 179577736 TTN G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036287 . . . . . . . . 0.0020 . 2 +2 179577998 TTN T C 1 0.00219649 0.0020 1.184 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0027813 T . . . P T . . 0.0005 Name\x3d97.404834 4.5 +2 179578108 TTN T TACAAA,TACAAAACAAA 1 0.0211661 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0008 . intronic . 0.0009056 . . . . . . . . 0.0499 . 0 +2 179578159 TTN A G 2 0.00359425 0.0153 . . . . . . . . . intronic . 0.0114876 . . . . . . . . . . 0 +2 179578703 TTN C T 3 0.00459265 0.0045 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0040 synonymous_SNV exonic . 0.0045795 . . . . . . . . 0.0034 Name\x3d95.749361 7 +2 179578704 TTN G A 5 0.111422 0.0251 2.101 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0281 nonsynonymous_SNV exonic . 0.0705812 T . . . B T . . 0.0256 Name\x3d95.749361 2.5 +2 179578730 TTN G A 50 0.444688 0.2013 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2029 synonymous_SNV exonic . 0.296794 . . . . . . . . 0.2012 Name\x3d97.007646 1 +2 179578937 TTN A G 5 0.0804712 0.0260 . . . . . . . 0.0300 . intronic . 0.0473215 . . . . . . . . 0.0238 . 0 +2 179579093 TTN T C 40 0.247005 0.1494 -0.712 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.1451 nonsynonymous_SNV exonic . 0.175845 T . . . B T . . 0.1506 Name\x3d96.090561 3.5 +2 179579212 TTN T C 50 0.483427 0.2009 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2045 synonymous_SNV exonic . 0.307622 . . . . . . . . 0.2019 Name\x3d96.792847 2 +2 179579366 TTN G A 5 0.0800719 0.0260 . . . . . . . . . intronic . 0.0079106 . . . . . . . . . . 0 +2 179579694 TTN T A 5 0.0754792 0.0260 . MedGen:CN169374 not_specified Benign . . . 0.0302 . intronic . 0.0453293 . . . . . . . . 0.0237 . 0 +2 179579822 TTN T A 50 0.444489 0.2008 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2026 synonymous_SNV exonic . 0.290714 . . . . . . . . 0.2005 Name\x3d96.537750 2 +2 179579977 TTN G A 8 0.00938498 0.0259 3.568 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0199 nonsynonymous_SNV exonic . 0.0163905 T . . . B T . . 0.0223 Name\x3d96.742853 2.5 +2 179580171 TTN T C 1 0.000199681 . . . . . . . . 1.904e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +2 179580210 TTN G A 5 0.111422 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0282 . intronic . 0.0703484 . . . . . . . . 0.0251 . 0 +2 179580434 TTN A G 3 0.0507188 0.0239 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0430 synonymous_SNV exonic . 0.0359374 . . . . . . . . 0.0215 Name\x3d96.497784 1 +2 179580525 TTN C T 5 0.111422 0.0251 . . . . . . . 0.0394 . intronic . 0.053738 . . . . . . . . 0.0246 . 0 +2 179581835 TTN C A 3 0.0513179 0.0239 0.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0277 nonsynonymous_SNV exonic . 0.0369853 T . . . . T . . 0.0214 Name\x3d96.868842 2.5 +2 179581933 TTN T G 7 0.028754 . 1.592 . . . . . . . nonsynonymous_SNV exonic . 0.0009314 T . . . D T . . . Name\x3d96.857827 1 +2 179581971 TTN C T 2 0.00599042 0.0016 2.691 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0037192 T . . . D D . . 0.0019 Name\x3d97.234590 6 +2 179582063 TTN A T 2 0.028754 0.0021 0.979 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.0103492 T . . . B T . . 0.0027 Name\x3d96.417210 2.5 +2 179582162 TTN C T 40 0.24401 0.1496 . . . . . . . . . intronic . 0.0347538 . . . . . . . . . . 1 +2 179582166 TTN G A 1 0.000199681 0.0002 . . . . . . . . . intronic . 4.53e-05 . . . . . . . . . . 4 +2 179582327 TTN C T 40 0.24381 0.1495 1.700 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.1456 nonsynonymous_SNV exonic . 0.17503 T . . . B T . . 0.1508 Name\x3d95.891581 3.5 +2 179582537 TTN G T 50 0.444888 0.2006 2.566 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2042 nonsynonymous_SNV exonic . 0.294537 T . . . . T 0.0003 0.03 0.2018 Name\x3d96.894624 3.5 +2 179582605 TTN A G 42 0.279153 0.1523 . . . . . . . . . intronic . 0.0369594 . . . . . . . . . . 1 +2 179582760 TTN T C 1 0.00159744 0.0070 1.518 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0100 nonsynonymous_SNV exonic . 0.0060737 T . . . B T . . 0.0076 Name\x3d96.831918 4.5 +2 179582824 TTN C T 3 0.0235623 0.0077 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0114 synonymous_SNV exonic . 0.0129623 . . . . . . . . 0.0069 Name\x3d96.076578 1 +2 179582853 TTN T C 5 0.0121805 0.0256 1.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0295 nonsynonymous_SNV exonic . 0.0214616 T . . . B T . . 0.0308 Name\x3d96.939035 2.5 +2 179583317 TTN G A 23 0.0734824 0.1118 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.1052 synonymous_SNV exonic . 0.0885305 . . . . . . . . 0.1101 Name\x3d97.103769 1 +2 179583326 TTN T G 1 0.00499201 . 1.396 . . . . . . . nonsynonymous_SNV exonic . 0.0001617 T . . . D T 0.0012 0.03 . Name\x3d97.564293 3 +2 179583398 TTN T C 42 0.271565 0.1523 . . . . . . . 0.1481 . intronic . 0.185825 . . . . . . . . 0.1537 . 1 +2 179583496 TTN T G 40 0.238818 0.1498 0.820 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.1447 nonsynonymous_SNV exonic . 0.174739 T . . . B D . . 0.1517 Name\x3d96.218816 1 +2 179583966 TTN C T 1 0.000199681 6.488e-05 3.412 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d97.010188 8 +2 179583967 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0019 synonymous_SNV exonic . 0.0036739 . . . . . . . . 0.0019 Name\x3d97.010188 3 +2 179584152 TTN G A 1 0.000399361 0.0001 3.575 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 1.849e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D T . . 0.0001 Name\x3d97.661391 8 +2 179584366 TTN G T 1 0.00279553 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0022 synonymous_SNV exonic . 0.0031759 . . . . . . . . 0.0033 Name\x3d96.461981 3 +2 179584831 TTN G C 2 0.00599042 0.0016 0.555 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.003661 T . . . P T . . 0.0020 Name\x3d97.280483 4.5 +2 179585257 TTN G C 2 0.00499201 0.0016 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0026 nonsynonymous_SNV exonic . 0.0038809 T . . . B T . . 0.0021 Name\x3d97.021140 4.5 +2 179585266 TTN C T 214 0.982029 0.9999 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.943694 . . . . . . . . 0.9999 Name\x3d97.079564 1 +2 179585393 TTN A G 50 0.460064 0.2008 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2129 . intronic . 0.298812 . . . . . . 0.0001 0.016 0.1985 . 1 +2 179585963 TTN A G 3 0.0513179 0.0239 . . . . . . . 0.0387 . intronic . 0.0332208 . . . . . . . . 0.0210 . 0 +2 179586604 TTN C G 8 0.0201677 0.0398 2.558 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0353 nonsynonymous_SNV exonic . 0.0278651 T . . . D T . . 0.0386 Name\x3d97.768209 1 +2 179586901 TTN G GT 2 0.00758786 0.0246 . . . . Name\x3dENSR00000629535|Enhancer . . 0.0205 . intronic . 0.0003558 . . . . . . . . 0.0223 . 1 +2 179587130 TTN C G 40 0.247005 0.1499 2.840 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.1449 nonsynonymous_SNV exonic . 0.176026 T . . . D T . . 0.1523 Name\x3d97.414269 3 +2 179587546 TTN A G 5 0.0940495 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0273 synonymous_SNV exonic . 0.0664222 . . . . . . . . 0.0242 Name\x3d98.479550 2 +2 179587552 TTN T C 3 0.00279553 0.0090 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0121 synonymous_SNV exonic . 0.0074126 . . . . . . . . 0.0118 Name\x3d98.657078 2 +2 179587670 TTN G A 1 0.000599042 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0003 . intronic . 0.0001811 . . . . . . . . 0.0001 Name\x3d98.020239 4 +2 179587687 TTN T C 50 0.48722 0.2017 . . . . Name\x3dENSR00000629535|Enhancer . . 0.2059 . intronic . 0.30693 . . . . . . . . 0.2016 . 2 +2 179588535 TTN G A 3 0.00199681 0.0089 . . . . . . . 0.0046 . intronic . 0.003454 . . . . . . . . 0.0055 . 6 +2 179588908 TTN A C 1 0.00219649 0.0020 . . . . . . . 0.0016 . intronic . 0.002749 . . . . . . . . 0.0005 . 2 +2 179589058 TTN G A 2 0.0357428 0.0037 2.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0042 nonsynonymous_SNV exonic . 0.0150904 T . . . B T . . 0.0031 Name\x3d97.299206 2.5 +2 179589217 TTN C T 1 0.000199681 . 3.330 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d97.020355 8 +2 179589241 TTN G A 3 0.0515176 0.0194 3.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0197 nonsynonymous_SNV exonic . 0.0467652 T . . . P T . . 0.0190 Name\x3d97.726248 2.5 +2 179589260 TTN C T 1 0.000199681 6.483e-05 3.991 . . . . . . 1.937e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D T . . . Name\x3d97.751399 5 +2 179590133 TTN C G 2 0.000599042 0.0007 2.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006533 T . . . B T . . 0.0008 Name\x3d97.354348 4.5 +2 179590329 TTN C T 3 0.00658946 0.0149 3.112 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0163 nonsynonymous_SNV exonic . 0.0119856 D . . . D T . . 0.0173 Name\x3d98.232425 4 +2 179591757 TTN T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 +2 179591917 TTN T C 2 0.00599042 0.0016 -1.660 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.003661 T . . . B T . . 0.0019 Name\x3d97.530850 4.5 +2 179592161 TTN A G 3 0.0513179 0.0239 . . . . . . . . . intronic . 0.0062742 . . . . . . . . . . 0 +2 179593270 TTN A G 1 0.00219649 0.0100 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0116 synonymous_SNV exonic . 0.0074449 . . . . . . . . 0.0104 Name\x3d97.545508 1 +2 179593352 TTN C T 5 0.0932508 0.0250 1.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0278 nonsynonymous_SNV exonic . 0.0656654 T . . . P T . . 0.0246 Name\x3d97.031751 2.5 +2 179593862 TTN G A 1 0.0241613 0.0063 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0068 synonymous_SNV exonic . 0.0238677 . . . . . . . . 0.0065 Name\x3d96.442886 1 +2 179594059 TTN T C 2 0.00599042 0.0016 0.545 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.0037904 T . . . B T . . 0.0019 Name\x3d97.083578 4.5 +2 179594653 TTN C A 1 0.000199681 . 3.147 . . . . . . 2.019e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . Name\x3d98.247269 6.5 +2 179595117 TTN C G 46 0.348043 0.1770 . MedGen:CN169374 not_specified Benign . . . 0.1845 . intronic . 0.233147 . . . . . . . . 0.1789 . 1 +2 179595372 TTN T C 1 0.00219649 0.0099 1.928 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0113 nonsynonymous_SNV exonic . 0.0074643 T . . . B T . . 0.0104 Name\x3d97.107385 2.5 +2 179595577 TTN GT GTT,G 1 0.109225 0.0284 . . . . . . . . . intronic . 0.0034962 . . . . . . . . . . 0 +2 179595588 TTN TA T 2 0.00858626 0.0197 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +2 179595589 TTN A T 3 0.0205671 0.0004 . . . . . . . . . intronic . 0.0047641 . . . . . . . . . . 0 +2 179596554 TTN T C 1 0.00199681 0.0066 -1.446 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0088 nonsynonymous_SNV exonic . 0.0058667 T . . . B T . . 0.0072 Name\x3d95.103214 4.5 +2 179597242 TTN C A 1 0.000399361 0.0008 1.791 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005369 D . . . D D . . 0.0013 Name\x3d96.928142 6 +2 179597273 TTN A G 1 0.000199681 0.0001 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001876 . . . . . . . . 0.0002 Name\x3d97.163806 5 +2 179597600 TTN C T 1 0.00359425 0.0095 2.783 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0075 nonsynonymous_SNV exonic . 0.0058214 T . . . B T . . 0.0091 Name\x3d97.575959 4.5 +2 179598228 TTN A G 26 0.0295527 0.0769 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0788 synonymous_SNV exonic . 0.0534663 . . . . . . . . 0.0792 Name\x3d96.551159 1 +2 179599355 TTN G C 2 0.00599042 0.0016 . . . . . . . 0.0019 . intronic . 0.0034799 . . . . . . . . 0.0020 . 2 +2 179599473 TTN C G 2 0.00339457 0.0038 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0041 nonsynonymous_SNV exonic . 0.0034864 T . . . P T . . 0.0038 Name\x3d97.148805 4.5 +2 179599667 TTN G C 1 0.00439297 0.0109 1.674 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0130 nonsynonymous_SNV exonic . 0.0072703 T . . . P T . . 0.0090 Name\x3d98.451773 2.5 +2 179600303 TTN G C 1 0.00179712 0.0036 1.289 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0043 nonsynonymous_SNV exonic . 0.0031436 T . . . B T . . 0.0035 Name\x3d97.229185 4.5 +2 179600563 TTN G A 214 0.981829 0.9999 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.943662 . . . . . . . . 0.9999 Name\x3d96.791376 1 +2 179600648 TTN C T 7 0.144768 0.0466 0.315 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . Name\x3dMIMAT0004598|hsa-miR-141-5p|Experimental 0.0498 nonsynonymous_SNV exonic . 0.0916288 T . . . . T . . 0.0479 . 2.5 +2 179603837 TTN C T 2 0.00599042 0.0016 . . . . . . . 0.0020 . intronic . 0.0025032 . . . . . . . . 0.0019 . 2 +2 179604101 TTN C T 2 0.00599042 0.0016 2.576 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0038033 T . . . B T . . 0.0019 Name\x3d97.099094 4.5 +2 179604160 TTN T G 5 0.076278 0.0439 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0691194 T . . . B T . . 0.0431 Name\x3d95.067253 2.5 +2 179604366 TTN T G 5 0.0760783 0.0438 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0690547 T . . . B T . . 0.0435 Name\x3d95.400124 2.5 +2 179604440 TTN A G 1 0.000399361 . -1.764 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 9.203e-05 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . . Name\x3d95.247544 6.5 +2 179604742 TTN G A 5 0.0766773 0.0439 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0696433 . . . . . . . . 0.0433 Name\x3d96.496540 1 +2 179604871 TTN G A 1 0.000599042 . . . . . . . . 1.844e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d97.186491 3 +2 179605180 TTN C A,T 1 0.238818 0.1308 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1289 synonymous_SNV exonic . 0.158594 . . . . . . . . 0.1283 . 1 +2 179605380 TTN T A 1 0.00299521 0.0046 -0.005 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0052975 T . . . B T . . 0.0067 . 3.5 +2 179605705 TTN A G 5 0.0760783 0.0440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0694299 . . . . . . . . 0.0437 . 0 +2 179605725 TTN T C 9 0.0161741 0.0170 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0182 nonsynonymous_SNV exonic . 0.0176582 T . . . B T . . 0.0185 . 1.5 +2 179605755 TTN G C 1 0.000199681 . 0.306 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . . 5.5 +2 179605991 TTN G A 3 0.00279553 0.0089 1.510 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0121 nonsynonymous_SNV exonic . 0.007432 T . . . B T . . 0.0118 Name\x3d95.507677 2.5 +2 179606172 TTN C T 2 0.000798722 0.0005 0.926 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0007 . 3.5 +2 179606538 TTN G A 12 0.273163 0.0716 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0859 nonsynonymous_SNV exonic . 0.165819 T . . . B T . . 0.0732 Name\x3d95.604801 2.5 +2 179606590 TTN T C 2 0.000599042 0.0008 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.0005433 . . . . . . . . 0.0010 . 2 +2 179610967 TTN C T 2 0.00119808 0.0043 1.745 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0028266 T . . . B D . . 0.0041 Name\x3d97.131287 3 +2 179611279 TTN G A 1 0.000199681 . 1.499 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d98.401742 5 +2 179611552 TTN C T 1 0.000199681 0.0005 1.711 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . 0.0005 Name\x3d98.492367 4.5 +2 179611711 TTN C A 5 0.0772764 0.0440 0.758 MedGen:CN169374 not_specified Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0696757 T . . . D D . . 0.0433 Name\x3d97.067797 4 +2 179611847 TTN T G 1 0.000998403 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0002 Name\x3d98.288260 3 +2 179611851 TTN C T 1 0.0399361 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0005 synonymous_SNV exonic . 0.0021798 . . . . . . . . 0.0007 Name\x3d97.714041 1 +2 179611875 TTN A G 1 0.0397364 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.001727 . . . . . . . . 0.0007 Name\x3d98.259929 1 +2 179612373 TTN A C 1 0.00579073 0.0019 . MedGen:CN169374 not_specified Benign . . . 0.0031 synonymous_SNV exonic . 0.0049353 . . . . . . . . 0.0037 Name\x3d96.505474 3 +2 179612383 TTN C T 17 0.0145767 0.0498 1.322 MedGen:CN169374 not_specified Benign . . . 0.0562 nonsynonymous_SNV exonic . 0.0379943 T . . . B T . . 0.0582 Name\x3d96.567117 2.5 +2 179612511 TTN G A 1 0.000399361 0.0005 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0003363 . . . . . . . . 0.0003 . 2 +2 179612635 TTN C T 2 0.00599042 0.0018 0.214 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Benign/Likely_benign Name\x3dENSR00001041498|Enhancer . . 0.0024 nonsynonymous_SNV exonic . 0.004075 T . . . B T . . 0.0022 . 4.5 +2 179612883 TTN A G 2 0.00339457 0.0108 . MedGen:CN169374 not_specified Benign . . . 0.0109 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0128 . 0 +2 179613049 TTN A G 1 0.000399361 0.0006 0.341 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0005239 T . . . B T . . 0.0013 . 3.5 +2 179613191 TTN T C 1 0.00259585 0.0068 0.041 MedGen:CN169374 not_specified Benign . . . 0.0109 nonsynonymous_SNV exonic . 0.0076196 T . . . B D . . 0.0093 . 0 +2 179613651 TTN G A 7 0.0109824 0.0299 . MedGen:CN169374 not_specified Benign . . . 0.0285 synonymous_SNV exonic . 0.0222248 . . . . . . . . 0.0356 . 0 +2 179613763 TTN T C 1 0.000798722 0.0003 0.715 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202 Syncope|Hypertrophic_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003946 T . . . P D . . 0.0001 . 2 +2 179614952 TTN A G 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979502 . . . . . . . . 0.9992 . 0 +2 179615318 TTN T G 1 0.000399361 . 0.356 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0002393 T . . . B T . . . . 5.5 +2 179615321 TTN G T 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0002 . 4 +2 179615887 TTN T C 202 0.733027 0.9310 0.654 MedGen:CN169374 not_specified Benign . . . 0.9248 nonsynonymous_SNV exonic rs922984|PR-interval|1.5|2E-11|PMID:30046033 0.828586 T . . . B T . . 0.9303 . 1.5 +2 179615931 TTN C G 214 0.97504 0.9999 0.163 MedGen:CN169374 not_specified Benign . . . 0.9997 nonsynonymous_SNV exonic . 0.971107 T . . . B T . . 0.9992 . 1.5 +2 179615994 TTN T C 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979276 . . . . . . . . 0.9992 . 0 +2 179616210 TTN G A 1 0.000998403 0.0019 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0009573 . . . . . . . . 0.0017 Name\x3d97.129566 3 +2 179616481 TTN C T 1 0.000399361 0.0001 1.324 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005886 T . . . D D . . 0.0005 Name\x3d96.623886 6 +2 179616770 TTN GAAA GAAAA,GAA,GA,G 1 0.00179712 0.0002 . . . . . . . 0.0039 . intronic . 0.0001294 . . . . . . . . . . 2 +2 179618019 TTN T A 202 0.804513 0.9320 . . . . . . . . . intronic . 0.0004226 . . Name\x3dOREG1269466|N/A|SMARCA4|PAZAR . . . . . . . 1 +2 179620951 TTN C T 202 0.804513 0.9322 3.252 MedGen:CN169374 not_specified Benign . . . 0.9269 nonsynonymous_SNV exonic . 0.845047 T . . . B T 0.0021 . 0.9321 Name\x3d97.122867 2.5 +2 179621184 TTN G A 5 0.00519169 0.0156 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0172 synonymous_SNV exonic . 0.0113323 . . . . . . . . 0.0146 . 0 +2 179621477 TTN C T 214 0.999002 1 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 1 nonsynonymous_SNV exonic . 0.937963 . . . . . . . . 1 Name\x3d96.475236 2.5 +2 179621503 TTN C T 6 0.00638978 0.0185 2.386 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0209 nonsynonymous_SNV exonic . 0.0140166 T . . . B T . . 0.0176 Name\x3d97.079130 2.5 +2 179623758 TTN C T 202 0.808906 0.9321 1.814 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9270 nonsynonymous_SNV exonic . 0.852447 T . . . B T . . 0.9324 Name\x3d96.908843 2.5 +2 179623772 TTN G A 2 0.00259585 0.0071 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0074 synonymous_SNV exonic . 0.0054398 . . . . . . . . 0.0087 Name\x3d97.267224 3 +2 179623939 TTN T C 214 0.998403 1 . . . . . . . 1.0000 . intronic . 0.934619 . . . . . . . . 1 . 0 +2 179628918 TTN C T 2 0.00379393 0.0152 3.746 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0141 nonsynonymous_SNV exonic . 0.0103944 T . . . B T . . 0.0164 Name\x3d97.820478 2.5 +2 179629363 TTN T C 214 0.973642 0.9999 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.971275 . . . . . . . . 0.9992 Name\x3d97.496194 1 +2 179629461 TTN C T 202 0.804912 0.9322 2.855 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9268 nonsynonymous_SNV exonic . 0.850164 T . . . D T . . 0.9322 Name\x3d97.484036 1 +2 179631091 TTN A T 2 0.000798722 0.0009 . MedGen:CN169374 not_specified Benign . . . 0.0013 . intronic . 0.0008667 . . . . . . . . 0.0015 . 2 +2 179631214 TTN T C 11 0.167732 0.0677 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0724 synonymous_SNV exonic . 0.135445 . . . . . . . . 0.0667 Name\x3d97.779455 1 +2 179631357 TTN TA T 1 0.00199681 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0003 . intronic . 0.0007827 . . . . . . . . . . 2 +2 179631362 TTN A C 15 0.145367 0.0745 . . . . . . . 0.0757 . intronic . 0.0175548 . . . . . . . . . . 0 +2 179631364 TTN AC A 4 0.0846645 0.0236 . . . . . . . 0.0268 . intronic . 0.0001617 . . . . . . . . 0.0223 . 0 +2 179632496 TTN T C 5 0.0860623 0.0221 1.376 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.062179 T . . . B T . . 0.0212 Name\x3d97.311493 2.5 +2 179632598 TTN C T 1 0.00159744 0.0108 4.072 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0056 nonsynonymous_SNV exonic . 0.0041655 T . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . D T . . 0.0044 Name\x3d97.595183 2 +2 179632710 TTN T C 165 0.503994 0.8001 . . . . . . . 0.7967 . intronic . 0.666201 . . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . . . . . 0.7988 . 1 +2 179633644 TTN G C 5 0.0866613 0.0221 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0248 synonymous_SNV exonic . 0.062192 . . . . . . . . 0.0215 Name\x3d97.362301 1 +2 179634389 TTN TA T 214 0.996605 0.1253 . . . . . . . 0.0428 . intronic . 0.00011 . . . . . . . . . . 0 +2 179634391 TTN TA T 214 0.996605 0.1252 . MedGen:CN169374 not_specified Benign . . . 0.0397 . intronic . 0.0026843 . . . . . . . . . . 0 +2 179634421 TTN T G 42 0.215455 0.0108 2.313 MedGen:CN169374 not_specified Benign . . . 0.3325 nonsynonymous_SNV exonic . 0.0071733 D . . . D T . . . Name\x3d98.579335 4 +2 179634936 TTN C T 6 0.08127 0.0454 2.325 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0475 nonsynonymous_SNV exonic . 0.0730327 T . . . B T . . 0.0451 Name\x3d98.565039 2.5 +2 179634961 TTN C A 1 0.00758786 0.0233 2.904 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0212 nonsynonymous_SNV exonic . 0.015058 T . . . D T . . 0.0220 Name\x3d98.573169 1 +2 179635882 TTN C T 214 0.967851 0.9997 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +2 179635888 TTN C T 1 0.000199681 6.488e-05 . . . . . . . 1.848e-05 . intronic . 3.23e-05 . . . . . . . . . . 4 +2 179635919 TTN C T 11 0.0155751 0.0350 . MedGen:CN169374 not_specified Benign . . . 0.0359 . intronic . 0.0257371 . . . . . . . . 0.0377 . 0 +2 179636257 TTN T A 6 0.0814696 0.0452 . . . . . . . . . intronic . 0.012626 . . . . . . . . . . 0 +2 179637861 TTN C G 5 0.0754792 0.0440 1.057 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0458 nonsynonymous_SNV exonic . 0.068796 T . . . B T . . 0.0433 Name\x3d95.704223 2.5 +2 179638238 TTN G A 22 0.0754792 0.1139 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.1078 synonymous_SNV exonic . 0.0923533 . . . . . . . . 0.1147 Name\x3d98.210169 1 +2 179638246 TTN C G 2 0.000399361 . 1.644 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d98.179970 8 +2 179638721 TTN C T 5 0.0874601 0.0221 2.444 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0253 nonsynonymous_SNV exonic . 0.0620238 T . . . D D . . 0.0221 Name\x3d98.341374 4 +2 179640152 TTN C T 1 0.000199681 . 2.105 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.881833 8 +2 179641112 TTN C A 2 0.000798722 0.0009 2.291 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.0008667 T . . . P T . . 0.0015 Name\x3d99.877503 4.5 +2 179641336 TTN C T 1 0.000199681 6.483e-05 3.253 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.684e-05 nonsynonymous_SNV exonic . 0.0001682 T . . . D D . . . Name\x3d99.898512 8 +2 179641802 LOC101927055 A G 1 0.00579073 0.0014 . . . . . . . 0.0019 . ncRNA_exonic . 0.0038292 . . . . . . . . 0.0020 Name\x3d99.321781 1 +2 179641975 TTN C T 5 0.0752796 0.0438 2.306 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0454 nonsynonymous_SNV exonic rs12476289|QT-interval|0.29|2E-6|PMID:20031603 0.0688154 T . . . P T . . 0.0430 Name\x3d99.755814 2.5 +2 179642425 LOC101927055 G A 212 0.911542 0.9892 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9884 . ncRNA_exonic . 0.946476 . . . . . . . . 0.9914 Name\x3d99.642426 -1 +2 179642589 TTN C G,T 212 0.000399361 . 4.476 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance . . . 3.687e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d99.660324 16 +2 179643775 TTN C T 1 0.00379393 0.0159 3.042 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0099 nonsynonymous_SNV exonic . 0.0088356 T . . . D T . . 0.0073 Name\x3d99.754354 1 +2 179643886 LOC101927055 A G 212 0.919928 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.952433 . . . . . . . . 0.9913 Name\x3d97.433063 -1 +2 179643934 LOC101927055 A G 212 0.920128 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.94308 . . . . . . . . 0.9916 Name\x3d98.558053 -1 +2 179644035 TTN G A 212 0.920128 0.9892 2.581 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.9885 nonsynonymous_SNV exonic . 0.956534 T . . . B T . . 0.9914 Name\x3d99.595224 2.5 +2 179644160 TTN T C 5 0.0756789 0.0439 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0571 synonymous_SNV exonic . 0.0675864 . . . . . . . . 0.0422 Name\x3d99.515780 1 +2 179644848 TTN C G 1 0.000199681 6.482e-05 1.775 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.610085 6.5 +2 179644855 TTN T C 188 0.5002 0.8670 2.524 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.8643 nonsynonymous_SNV exonic . 0.70208 T . . . B T . . 0.8702 Name\x3d99.771433 2.5 +2 179647546 TTN A G 8 0.0776757 0.0517 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0499 synonymous_SNV exonic rs55863869|QT-interval|1.92|2E-10|PMID:29213071 0.0718878 . . . . . . . . 0.0476 Name\x3d99.800342 1 +2 179647823 TTN C T 2 0.0828674 0.0106 . . . . . . . 0.0120 . intronic . 0.037645 . . . . . . . . 0.0090 Name\x3d97.280250 1 +2 179647824 TTN G A 6 0.0181709 0.0349 . . . . . . . 0.0335 . intronic . 0.0300966 . . . . . . . . 0.0362 Name\x3d97.280250 1 +2 179648778 TTN C A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0004 . intronic . 0.0002393 . . . . . . . . 0.0006 Name\x3d98.170684 3 +2 179649134 TTN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.914376 5 +2 179650408 TTN G A 56 0.100439 0.2103 2.681 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.2378 nonsynonymous_SNV exonic . 0.174571 T . . . D D . . 0.2345 Name\x3d99.739854 4 +2 179650701 TTN C T 81 0.204673 0.4251 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.4008 synonymous_SNV exonic . 0.322059 . . . . . . . . 0.4057 Name\x3d99.875789 1 +2 179650932 TTN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.366185 5 +2 179654032 TTN T G 2 0.00439297 0.0136 . . . . . . . . . intronic . 0.0019275 . . . . . . . . . Name\x3d99.596408 1 +2 179654121 TTN G T 16 0.0644968 . 1.430 . . . . . Name\x3dMIMAT0000728|hsa-miR-375-3p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.0020892 T . . . B D . . . Name\x3d99.519624 2 +2 179654136 TTN C A 1 0.000199681 . 3.304 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.736727 5 +2 179654695 TTN C G 2 0.00599042 0.0017 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0024 . intronic . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.723088 3 +2 179656963 TTN T C 1 0.000199681 0.0012 . . . . . . . 0.0012 . intronic . 0.000718 . . . . . . . . 0.0015 Name\x3d98.528760 3 +2 179656977 TTN A C 3 0.00958466 0.0089 . . . . . . . . . intronic . 0.0016753 . . . . . . . . . Name\x3d98.421752 7 +2 179656993 TTN A C 1 0.00339457 0.0064 . . . . . . . . . intronic . 0.0009573 . . . . . . . . . Name\x3d99.069894 3 +2 179658175 TTN C T 5 0.00758786 0.0214 2.756 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0194 nonsynonymous_SNV exonic . 0.0157048 T . . . B T . . 0.0233 Name\x3d99.726320 2.5 +2 179658310 TTN T C 1 0.00119808 0.0107 . . . . . . . 0.0054 . intronic . 0.0038421 . . . . . . . . 0.0042 Name\x3d98.229434 1 +2 179659064 TTN T C 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 2 +2 179659110 TTN G A 2 0.00599042 0.0017 . MedGen:CN169374 not_specified Benign . . . 0.0024 . intronic . 0.0041138 . . . . . . . . 0.0022 . 2 +2 179659334 TTN A C 2 0.0934505 0.0107 . . . . . . . . . intronic . 0.0062612 . . . . . . . . . Name\x3d97.484814 1 +2 179659722 TTN G A 1 0.000199681 . 2.255 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.709739 5 +2 179659757 TTN T C 2 0.00599042 0.0017 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.603759 3 +2 179659815 TTN C G 2 0.0119808 0.0019 2.453 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.0056015 T . . . B T . . 0.0022 Name\x3d99.732317 2.5 +2 179659912 TTN G A 12 0.236022 0.0542 2.207 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0512 nonsynonymous_SNV exonic . 0.118575 T . . . B D . . 0.0531 Name\x3d99.284283 1 +2 179659928 TTN C A 1 0.000199681 . 1.766 . . . . . . 9.204e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . Name\x3d99.534258 5 +2 179660030 TTN T C 4 0.101837 0.0125 . . . . . . . 0.0143 . intronic . 0.0449283 . . . . . . . . 0.0112 . 0 +2 179665231 TTN G C 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.771502 5 +2 179665279 TTN G A 2 0.00599042 0.0017 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0041073 . . . . . . . . 0.0022 Name\x3d99.821198 3 +2 179666830 TTN G A 19 0.0313498 0.0790 . . . . . . . 0.0817 . intronic . 0.0581752 . . . . . . . . 0.0849 . 0 +2 179666956 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.365e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.685325 5 +2 179666982 TTN C A 3 0.0289537 0.0051 3.822 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0066 nonsynonymous_SNV exonic . 0.0131499 T . . . D D . . 0.0059 Name\x3d99.658872 4 +2 179667090 TTN C T 107 0.703474 0.5620 . . . . . . . 0.5710 . intronic . 0.602754 . . . . . . . . 0.5384 Name\x3d99.038438 1 +2 179669199 TTN C T 1 0.000998403 0.0020 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0016905 . . . . . . . . . Name\x3d98.941845 4 +2 179669227 TTN CTGGAG C 2 0.0628994 0.0105 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0008021 . . . . . . . . 0.0086 Name\x3d98.987319,99.153827 2 +2 179669244 TTN G GA 1 0.00419329 0.0002 . . . . Name\x3dENSR00000629547|Promoter . . 0.0060 . intronic . 0.0002135 . . . . . . . . 0.0045 Name\x3d98.207101 4 +2 220283259 DES A G 214 0.886182 0.9895 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9891 synonymous_SNV exonic . 0.877634 . . . . . . . . 0.9877 Name\x3d99.848673 3 +2 220283277 DES T C 214 0.866014 0.9892 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9886 synonymous_SNV exonic . 0.0001358 . . . . . . . . 0.9880 Name\x3d99.863755 3 +2 220283591 DES T A 1 0.000399361 0.0002 6.000 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001319,MedGen:C2267233|Human_Phenotype_Ontology:HP:0002091,MedGen:C3277226|Human_Phenotype_Ontology:HP:0002098,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|Human_Phenotype_Ontology:HP:0002747,MedGen:C3806467|Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003701,MedGen:C0221629|Human_Phenotype_Ontology:HP:0003756,MedGen:C1533847,Orphanet:ORPHA98472|Human_Phenotype_Ontology:HP:0006517,MedGen:C0034050,SNOMED_CT:10501004|Human_Phenotype_Ontology:HP:0006530,MedGen:C0206062,Orphanet:ORPHA182095|Human_Phenotype_Ontology:HP:0006903,MedGen:C4024967|Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Generalized_hypotonia|Neonatal_hypotonia|Restrictive_ventilatory_defect|Respiratory_distress|Neonatal_respiratory_distress|Respiratory_insufficiency_due_to_muscle_weakness|Muscular_Diseases|Proximal_muscle_weakness|Skeletal_myopathy|Pulmonary_alveolar_proteinosis|Interstitial_pulmonary_abnormality|Congenital_peripheral_neuropathy|Proximal_muscle_weakness_in_upper_limbs|Infantile_axial_hypotonia|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance Name\x3dENSR00000637249|Promoter . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 D . . . D D . . . Name\x3d99.934248 12 +2 220283592 DES C T 9 0.0123802 0.0432 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000637249|Promoter . . 0.0823 synonymous_SNV exonic . 0.0179817 . . . . . . . . 0.0352 Name\x3d99.934248 2 +2 220283826 DES T G 214 1 1 . . . . Name\x3dENSR00000637249|Promoter . . . . intronic . 0.92777 . . . . . . . . . Name\x3d98.692797 2 +2 220284779 DES C T 133 0.529353 0.6462 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.6272 . intronic . 0.601318 . . . . . . . . 0.6303 Name\x3d98.513007 2 +2 220284873 DES G A 1 0.000399361 0.0001 6.700 Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000637249|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.000207 D . . . D T . . 0.0002 Name\x3d99.830802 9 +2 220284876 DES C T 4 0.00559105 0.0145 5.554 Gene:1732,Human_Phenotype_Ontology:HP:0000776,MeSH:D065630,MedGen:C0235833,OMIM:142340,Orphanet:ORPHA2140|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000637249|Promoter . . 0.0152 nonsynonymous_SNV exonic . 0.0106014 D . . . P D 0.0534 0.296 0.0137 Name\x3d99.830802 5 +2 220285054 DES A G 1 0.000199681 . 6.166 . . . Name\x3dENSR00000637249|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.934923 12 +2 220285088 DES C T 5 0.00419329 0.0094 . Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374 Myofibrillar_myopathy|not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0141 . intronic . 0.0093854 . . . . . . . . 0.0109 Name\x3d98.852853 2 +2 220285182 DES C A 7 0.0127796 0.0486 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0509 . intronic . 0.035517 . . . . . . . . 0.0521 Name\x3d98.820483 2 +2 220285273 DES C T 1 0.00419329 0.0002 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000637249|Promoter . . 7.369e-05 synonymous_SNV exonic . 0.0036157 . . . . . . . . 0.0001 Name\x3d99.917028 4 +2 220285309 DES C T 81 0.33746 0.3420 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000637249|Promoter . . 0.3600 synonymous_SNV exonic . 0.336574 . . . . . . . . 0.3555 Name\x3d99.948048 2 +2 220285395 DES G A 1 0.000399361 . . . . . Name\x3dENSR00000637249|Promoter . . 3.697e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.640491 6 +2 220285666 DES G C 81 0.33766 0.3420 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3633 synonymous_SNV exonic . 0.334828 . . . . . . . . 0.3551 Name\x3d99.935688 2 +2 220286142 DES G A 81 0.333666 0.3429 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3604 synonymous_SNV exonic . 0.337221 . . . . . . . . 0.3552 Name\x3d99.929558 2 +2 220288562 DES C G 1 0.00539137 . . . . . Name\x3dENSR00000637249|Promoter . . 3.706e-05 . intronic . 0.0002199 . . . . . . . . . Name\x3d98.009519 4 +2 220290674 DES G A 1 0.00978435 6.496e-05 1.930 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0001 nonsynonymous_SNV exonic . 0.0029172 D . . . P T . . 0.0001 Name\x3d99.933336 3 +3 8775589 CAV3 C T 25 0.0425319 0.1252 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign Name\x3dENSR00000676564|Promoter . . 0.1268 synonymous_SNV exonic . 0.0890609 . . . . . . . . 0.1248 Name\x3d97.041043 0 +3 8775661 CAV3 C T 71 0.371006 0.2651 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign Name\x3dENSR00000676564|Promoter . . 0.2664 synonymous_SNV exonic . 0.292357 . . . . . . . . 0.2388 Name\x3d97.931840 0 +3 8775702 CAV3 G A 4 0.076877 0.0585 . MedGen:CN517202 not_provided not_provided Name\x3dENSR00000676564|Promoter . . 0.0558 . intronic . 0.0510925 . . . . . . . . 0.0499 . -1 +3 8775724 CAV3 G A 3 0.000998403 0.0012 . . . . Name\x3dENSR00000676564|Promoter . . 0.0016 . intronic . 0.0012484 . . . . . . . . 0.0015 . 5 +3 8787164 CAV3 AAGCGGGTGGCTTCTGTG A 27 0.0461262 0.1362 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1399 . intronic . 0.0027361 . . . . . . . . . Name\x3d96.069285,98.419569 -1 +3 8787189 CAV3 G C 10 0.0648962 0.0933 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0874 . intronic . 0.0709823 . . . . . . . . 0.0891 Name\x3d98.419569 0 +3 8787220 CAV3 T C 38 0.152955 0.2470 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign . . . 0.2366 synonymous_SNV exonic . 0.188866 . . . . . . . . 0.2410 Name\x3d99.338850 -1 +3 8787313 CAV3 C G 2 0.000998403 0.0016 4.285 Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832560|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Rippling_muscle_disease_2|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0011837 D . . . P T . . 0.0017 Name\x3d99.717448 1 +3 8787330 CAV3 C T 4 0.00199681 0.0025 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0040 nonsynonymous_SNV exonic . 0.0028395 D . . . D T . . 0.0044 Name\x3d99.578455 8 +3 12626019 RAF1 G A 3 0.00439297 0.0094 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000252|hsa-miR-7-5p|Experimental 0.0113 synonymous_SNV exonic . 0.0073091 . . . . . . . . 0.0112 Name\x3d99.273534 2 +3 12626516 RAF1 G A 92 0.364617 0.3588 . MedGen:CN169374 not_specified Benign . . . 0.3591 . intronic rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951 0.0021798 . . . . . . . . 0.3652 Name\x3d95.372492 3 +3 12633168 RAF1 A G 8 0.0213658 0.0114 . MedGen:CN169374 not_specified Benign . . . 0.0132 . intronic . 0.01608 . . . . . . . . 0.0119 Name\x3d95.248269 2 +3 12641349 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105303 . . . . . . . . 0.0155 . 0 +3 12641350 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105367 . . . . . . . . 0.0156 . 0 +3 12641873 RAF1 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.053672 5 +3 12647830 RAF1 G A 1 0.00299521 0.0024 . . . . . . . 0.0048 . intronic . 0.0033893 . . . . . . . . 0.0042 Name\x3d99.163209 3 +3 12650482 RAF1 T A 214 1 1 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d96.949610 1 +3 14166739 TMEM43 G C 1 0.00199681 0.0047 . . . . Name\x3dENSR00000148875|Promoter . . 0.0056 . intronic . 0.0032665 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1777220|N/A|RBL2|PAZAR,OREG1795662|N/A|RBL2|PAZAR . . . . . 0.0037 Name\x3d99.808404 5 +3 14166813 TMEM43 G C 1 0.00119808 0.0012 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.0011142 . . Name\x3dOREG1795662|N/A|RBL2|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR . . . . . . Name\x3d99.263684 5 +3 14166835 TMEM43 C T 27 0.245807 0.1160 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.170778 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1811303|N/A|RBL2|PAZAR . . . . . . Name\x3d99.413950 3 +3 14171082 TMEM43 C T 1 0.00179712 0.0082 . . . . . . . 0.0061 . intronic . 0.0041785 . . . . . . . . 0.0055 Name\x3d98.458430 3 +3 14172381 TMEM43 C T 9 0.00399361 0.0128 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0122 synonymous_SNV exonic . 0.0084928 . . . . . . . . 0.0121 Name\x3d99.696209 1 +3 14172494 TMEM43 G A 1 0.00139776 . . . . . . . . 1.885e-05 . intronic . 0.0003169 . . . . . . . . . . 2 +3 14173963 TMEM43 G T 54 0.45627 0.2917 . . . . . . . . . intronic . 0.0691194 . . . . . . . . . . 0 +3 14174002 TMEM43 G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +3 14174146 TMEM43 T C 77 0.557308 0.4136 . . . . . . . 0.3986 . intronic . 0.457271 . . . . . . . . 0.4069 . 0 +3 14174170 TMEM43 G C 1 0.000199681 6.494e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 14174318 TMEM43 G A 3 0.00499201 0.0123 . . . . . . . 0.0101 . intronic . 0.0072962 . . . . . . . . 0.0095 . 0 +3 14174427 TMEM43 A T 53 0.352636 0.2899 2.489 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2795 nonsynonymous_SNV exonic . 0.31735 T . . . B T . . 0.2878 Name\x3d99.649266 2.5 +3 14174454 TMEM43 G T 2 0.00798722 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0190 . intronic . 0.013842 . . . . . . . . 0.0226 . 0 +3 14175262 TMEM43 T C 54 0.463259 0.2970 0.428 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2869 nonsynonymous_SNV exonic . 0.366011 T . . . B T . . 0.2955 Name\x3d99.270300 2.5 +3 14176446 TMEM43 G A 52 0.350839 0.2821 . . . . . . . . . intronic . 0.0617909 . . . . . . . . . . 0 +3 14177251 TMEM43 G A 46 0.201877 0.2557 . . . . . . . . . intronic . 0.0472504 . . . . . . . . . . 0 +3 14177433 TMEM43 G A 1 0.000599042 0.0006 . MedGen:CN517202 not_provided Likely_benign . . . 0.0010 . intronic . 0.0007956 . . . . . . . . 0.0015 . 2 +3 14180633 TMEM43 C T 38 0.0964457 0.2079 . . . . . . . 0.2118 . intronic . 0.159856 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.2149 . 2 +3 14180706 TMEM43 C T 7 0.0213658 0.0184 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0213 synonymous_SNV exonic . 0.0200838 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.02 Name\x3d99.493196 2 +3 14180732 TMEM43 G A 1 0.000199681 . 6.388 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1485844|N/A|EGR1|PAZAR . D D . . . Name\x3d99.462727 9 +3 14183326 TMEM43 T C 1 0.00579073 0.0104 . . . . . . . 0.0105 . UTR3 . 0.0070245 . . . . . . . . 0.0083 Name\x3d98.553780 1 +3 32148371 GPD1L G T 1 0.000199681 0.0018 . . . . Name\x3dENSR00000150479|Promoter . . . . intronic . 0.001191 . . Name\x3dOREG1193921|N/A|TFAP2C|PAZAR,OREG1660415|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.635226 3 +3 32169509 GPD1L G A 1 0.000199681 . . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1275263|N/A|SMARCA4|PAZAR . . . . . . . 3 +3 32181709 GPD1L C A 1 0.000199681 6.48e-05 . . . . . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . 0.0016 0.084 . . 3 +3 32181710 GPD1L A T 1 0.000199681 6.484e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . 0.018 . . 3 +3 32181725 GPD1L A G 1 0.000399361 0.0001 2.478 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 6.47e-05 T . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.360262 5.5 +3 32181761 GPD1L C T 35 0.14976 0.1261 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1321 synonymous_SNV exonic . 0.129106 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.1387 Name\x3d99.465636 0 +3 32181798 GPD1L C T 2 0.000399361 6.482e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001746 . . Name\x3dOREG1243675|N/A|SMARCA4|PAZAR,OREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.186835 4 +3 32188248 GPD1L GA G 4 0.101637 0.0161 . . . . . . . 0.0181 . intronic . 0.0011643 . . Name\x3dOREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR,OREG1243677|N/A|SMARCA4|PAZAR . . . . . 0.0194 Name\x3d99.139296 0 +3 32200322 GPD1L T C 46 0.479433 0.3227 . . . . . . . 0.3365 . intronic . 0.350979 . . . . . . . . 0.3065 . -1 +3 32200588 GPD1L C T 2 0.000399361 0.0001 0.097 Human_Phenotype_Ontology:HP:0001522,MedGen:C1858430|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0001 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . 0.0001 Name\x3d99.521506 4.5 +3 32201104 GPD1L C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Brugada_syndrome|Cardiovascular_phenotype Likely_benign . . . 0.0001 synonymous_SNV exonic . 7.76e-05 . . . . . . . . . Name\x3d99.352555 3 +3 32201123 GPD1L G T 1 0.000199681 . 2.083 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.912936 4.5 +3 38591847 SCN5A G C 1 0.000399361 0.0017 -2.385 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4551804,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0011384 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . 0.0016 Name\x3d99.870231 5.5 +3 38591888 SCN5A C G 1 0.000199681 . -3.096 . . . . . . 1.938e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . . Name\x3d99.856033 7.5 +3 38592406 SCN5A A G 76 0.492412 0.3233 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.3357 synonymous_SNV exonic rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857 0.379568 . . . . . . . . 0.3336 Name\x3d99.926716 1 +3 38592799 SCN5A G A 1 0.000199681 . . MedGen:CN169374 not_specified Benign/Likely_benign . . . 7.36e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.945261 5 +3 38597180 SCN5A G A 1 0.00119808 0.0058 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0042 synonymous_SNV exonic . 0.0030207 . . . . . . . . 0.0045 Name\x3d99.910864 3 +3 38597867 SCN5A C T 30 0.0854633 0.0874 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . . . intronic . 0.0919394 . . . . . . . . . Name\x3d98.090329 2 +3 38598669 SCN5A A G 12 0.127995 0.0582 . . . . . . . . . intronic . 0.0150063 . . . . . . . . 0.0597 Name\x3d95.485776 1 +3 38601665 SCN5A C T 2 0.00359425 0.0121 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0130 synonymous_SNV exonic . 0.0084734 . . . . . . . . 0.0138 Name\x3d99.942324 1 +3 38601722 SCN5A C G 1 0.000199681 . 1.309 . . . . . . 1.869e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.927219 5 +3 38603958 SCN5A G A 1 0.000199681 0.0001 5.635 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 D Name\x3dOREG0070925|N/A|N/A|VistaEnhancers . . D D . . 0.0005 Name\x3d99.852384 10 +3 38618080 SCN5A A G 11 0.0345447 0.0624 . . . . . . . . . intronic . 0.0090232 . . . . . . . . . . 0 +3 38618142 SCN5A G A 1 0.00199681 0.0094 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|not_provided Benign . . . 0.0100 . intronic . 0.0054915 . . . . . . . . 0.0064 Name\x3d98.883231 3 +3 38618342 SCN5A G A 1 0.000798722 0.0004 . . . . . . . . . intronic . 0.0005379 . . . . . . . . . Name\x3d96.382076 3 +3 38622467 SCN5A T C 193 0.923123 0.8984 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.8887 synonymous_SNV exonic . 0.898106 . . . . . . . . 0.8830 Name\x3d99.925456 1 +3 38622745 SCN5A C A 2 0.000399361 . 6.503 . . . . . . 4.181e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.942508 11 +3 38622868 SCN5A G A 8 0.0323482 0.0369 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0448 . intronic . 0.0328133 . . . . . . 0.0001 0.002 0.0430 Name\x3d99.755610 1 +3 38627153 SCN5A G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 8 0.359824 . . . . . . . . . . intronic . 0.0002264 . . . . . . . . . Name\x3d95.567744 1 +3 38627537 SCN5A G T 1 0.000399361 0.0010 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 . intronic . 0.0003816 . . . . . . 0.0005 0.018 0.0007 Name\x3d99.883128 3 +3 38628851 SCN5A A AC 2 0.00139776 0.0042 . . . . . . . 0.0039 . intronic . 0.0001423 . . . . . . . . 0.0042 Name\x3d98.598871 3 +3 38628879 SCN5A C T 5 0.00239617 0.0035 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Cardiomyopathy|Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0047 . intronic . 0.0029948 . . . . . . . . 0.0031 Name\x3d99.719204 11 +3 38640536 SCN5A C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 3.949e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.937040 5 +3 38645420 SCN5A T C 50 0.230431 0.2462 -1.102 . . . . . . 0.2219 nonsynonymous_SNV exonic . 0.219577 T . . . B T . . 0.2321 Name\x3d99.875248 2.5 +3 38645506 SCN5A A G 2 0.00199681 0.0058 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0088 synonymous_SNV exonic . 0.0054268 . . . . . . . . 0.0081 Name\x3d99.911414 3 +3 38645516 SCN5A C T 1 0.000399361 6.487e-05 2.390 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Uncertain_significance . . . 5.131e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . 0.0001 Name\x3d99.902378 6.5 +3 38646423 SCN5A C T 42 0.17512 0.2161 . MedGen:CN169374 not_specified Benign . . . 0.2262 . intronic . 0.170586 . . . . . . . . 0.1935 Name\x3d96.472926 1 +3 38647642 SCN5A G T 42 0.151158 0.2081 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1811 . intronic . 0.169442 . . . . . . 0.9992 0.79 0.1850 Name\x3d99.803424 2 +3 38649621 SCN5A G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.063805 5 +3 38651442 SCN5A G A 2 0.00139776 0.0044 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0054 synonymous_SNV exonic . 0.0039715 . . . . . . . . 0.0067 Name\x3d99.944546 3 +3 38655354 SCN5A C A 1 0.000199681 . . . . . . . . 4.445e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.915269 5 +3 38655358 SCN5A G A 1 0.000199681 0.0002 . . . . . . . 0.0005 . intronic . 0.0001488 . . . . . . . . 0.0006 Name\x3d99.915269 3 +3 38655643 SCN5A C T 43 0.223043 0.1569 . . . . . . . . . intronic . 0.187606 . . . . . . . . . Name\x3d97.193966 1 +3 38662276 SCN5A C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 38662310 SCN5A C T 1 0.000599042 . . . . . . . . . . intronic . 5.17e-05 . . . . . . . . . Name\x3d96.292862 3 +3 38671768 SCN5A G T 10 0.0465256 0.0316 . MedGen:CN169374 not_specified Benign . . . 0.0335 . intronic . 0.0350125 . . . . . . . . 0.0368 . 0 +3 38671840 SCN5A G A 1 0.00539137 0.0033 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0031 synonymous_SNV exonic . 0.0041267 . . . . . . . . 0.0029 Name\x3d99.885377 3 +3 38671944 SCN5A G A 2 0.0644968 0.0185 . MedGen:CN169374 not_specified Benign . . . 0.0180 . intronic . 0.0311833 . . . . . . . . 0.0175 Name\x3d99.466462 1 +3 38674475 SCN5A C T 11 0.0385383 0.0351 . . . . . . . . . intronic . 0.0076454 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.0377 Name\x3d97.510145 2 +3 38674652 SCN5A C T 2 0.000399361 . . . . . . . . 3.786e-05 synonymous_SNV exonic . 2.59e-05 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . . Name\x3d99.922518 6 +3 38674712 SCN5A T C 178 0.781749 0.7795 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.7891 synonymous_SNV exonic . 0.763852 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.8072 Name\x3d99.922640 2 +3 38739353 SCN10A G A 1 0.000399361 0.0005 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004075 . . . . . . . . 0.0003 Name\x3d99.634544 1 +3 38739455 SCN10A G A 1 0.000199681 0.0001 . . . . . . . 5.52e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0002 Name\x3d99.788227 3 +3 38739494 SCN10A G A 5 0.014377 0.0333 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0298 synonymous_SNV exonic . 0.0256077 . . . . . . . . 0.0308 Name\x3d99.780425 -1 +3 38739574 SCN10A T C 214 1 1 0.227 MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.938267 T . . . B T . . . Name\x3d99.865245 0.5 +3 38739622 SCN10A C T 4 0.00638978 0.0136 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0119468 T . . . B T . . 0.0137 Name\x3d99.729685 0.5 +3 38739845 SCN10A A G 201 0.92472 0.9126 . MedGen:CN169374 not_specified Benign . . . 0.9179 synonymous_SNV exonic . 0.910105 . . . . . . . . 0.9151 Name\x3d99.900556 -1 +3 38740001 SCN10A C T 4 0.0579073 0.0141 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0148 synonymous_SNV exonic . 0.0356852 . . . . . . . . 0.0142 Name\x3d99.325116 -1 +3 38743314 SCN10A G A 1 0.00519169 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0005 . intronic . 0.0013907 . . . . . . . . 0.0006 . 0 +3 38743571 SCN10A G A 1 0.000199681 0.0042 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0009 Name\x3d99.483915 1 +3 38743629 SCN10A G A 4 0.00359425 0.0066 . . . . . . . 0.0079 . intronic . 0.0054268 . . . . . . . . 0.0064 . 4 +3 38748833 SCN10A T C 39 0.242412 0.1390 . MedGen:CN169374 not_specified Benign . . . 0.1379 synonymous_SNV exonic . 0.174959 . . . . . . . . 0.1430 Name\x3d99.480955 -1 +3 38748883 SCN10A A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.405637 3 +3 38752386 SCN10A T G 1 0.000199681 . . . . . . . . 2.034e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.769075 3 +3 38753977 SCN10A C T 60 0.251997 0.2678 . . . . . . . 0.2707 . intronic . 0.24609 . . . . . . . . 0.2617 . -2 +3 38755505 SCN10A G A 1 0.000199681 . 11.990 . . . . . . 3.682e-05 stopgain exonic . 3.23e-05 . . . . . . . . . Name\x3d99.338287 11 +3 38755637 SCN10A A G 1 0.0740815 0.0132 . . . . . . . . . intronic . 0.005595 . . . . . . . . . . -2 +3 38763863 SCN10A G C 61 0.219649 0.2670 . MedGen:CN169374 not_specified Benign . . . 0.2679 synonymous_SNV exonic . 0.239654 . . . . . . . . 0.2602 Name\x3d98.433880 -1 +3 38764998 SCN10A A G 61 0.219649 0.2672 0.961 MedGen:CN169374 not_specified Benign . . . 0.3097 nonsynonymous_SNV exonic . 0.237862 T . . . B T . . 0.26 Name\x3d99.271556 0.5 +3 38765075 SCN10A C T 1 0.000599042 . . . . . . . . 0.0004 . intronic . 0.0001876 . . . . . . . . 0.0001 Name\x3d95.395093 1 +3 38766675 SCN10A A G 130 0.757987 0.6172 -0.943 MedGen:CN169374 not_specified Benign . . . 0.6060 nonsynonymous_SNV exonic rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063 0.648258 T . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . B T . . 0.6019 Name\x3d98.896503 1.5 +3 38766701 SCN10A C T 17 0.115415 0.1503 . MedGen:CN169374 not_specified Benign . . . 0.1400 synonymous_SNV exonic . 0.126564 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.1414 Name\x3d99.136024 0 +3 38766825 SCN10A A G 13 0.0844649 0.0479 . MedGen:CN169374 not_specified Benign . . . 0.0508 . intronic . 0.0616163 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.0492 . -1 +3 38768212 SCN10A G A 1 0.000599042 0.0013 4.779 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0013 nonsynonymous_SNV exonic . 0.0009832 T . . . D D . . 0.0014 Name\x3d99.060883 4 +3 38768247 SCN10A G A 70 0.190495 0.2663 . MedGen:CN169374 not_specified Benign . . . 0.2677 synonymous_SNV exonic . 0.231646 . . . . . . . . 0.2614 Name\x3d99.200632 -1 +3 38768300 SCN10A T C 70 0.210663 0.2664 -1.544 MedGen:CN169374 not_specified Benign . . . 0.2684 nonsynonymous_SNV exonic . 0.235411 T . . . B T . . 0.2620 Name\x3d98.896335 0.5 +3 38768334 SCN10A T C 17 0.135982 0.0621 . MedGen:CN169374 not_specified Benign . . . 0.0638 synonymous_SNV exonic . 0.0912989 . . . . . . . . 0.0648 Name\x3d99.434816 -1 +3 38768427 SCN10A G T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.345942 3 +3 38768609 SCN10A G A 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 2 +3 38769983 SCN10A C T 1 0.000199681 . . . . . . . . 3.873e-05 . intronic . 1.94e-05 . . . . . . . . . . 2 +3 38770391 SCN10A A G 1 0.000199681 . 5.824 . . . . . . 3.751e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D 0.1749 0.444 . Name\x3d99.575404 9 +3 38780971 SCN10A G A 42 0.1873 0.2643 . . . . . . . 0.2540 . intronic . 0.0013519 . . . . . . . . 0.2509 . -2 +3 38784010 SCN10A C A 1 0.000199681 . 2.858 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.500608 6 +3 38784029 SCN10A T C 131 0.757788 0.6099 . MedGen:CN169374 not_specified Benign . . . 0.5996 . intronic rs6599250|PR-interval|3.8|4E-242|PMID:30046033 0.642851 . . . . . . 0.0001 0.01 0.5951 Name\x3d98.443089 -1 +3 38784056 SCN10A A C 5 0.137979 0.0290 . . . . . . . 0.0294 . intronic . 0.0722759 . . . . . . . . 0.0297 Name\x3d96.946063 -1 +3 38791482 SCN10A C T 5 0.137979 0.0279 . . . . . . . . . intronic . 0.0126518 . . . . . . . . . . -2 +3 38791507 SCN10A C T 13 0.0880591 0.0476 . . . . . . . . . intronic . 0.0089779 . . . . . . . . . Name\x3d96.617260 -1 +3 38793940 SCN10A A G 5 0.139976 0.0280 -0.356 MedGen:CN169374 not_specified Benign . . . 0.0283 nonsynonymous_SNV exonic . 0.0723859 T . . . B T . . 0.0280 Name\x3d99.103293 0.5 +3 38793989 SCN10A G A 70 0.207668 0.2587 . MedGen:CN169374 not_specified Benign . . . 0.2635 synonymous_SNV exonic . 0.229538 . . . . . . . . 0.2523 Name\x3d99.526908 -1 +3 38798171 SCN10A C T 70 0.207468 0.2570 . MedGen:CN169374 not_specified Benign . . . 0.2579 synonymous_SNV exonic . 0.227681 . . . . . . . . 0.2509 Name\x3d99.455034 -1 +3 38802155 SCN10A A G 1 0.00139776 0.0027 . MedGen:CN169374 not_specified Likely_benign . . . 0.0031 . intronic . 0.0021539 . . . . . . . . 0.0031 . 0 +3 38802251 SCN10A A G 77 0.388778 0.2872 . MedGen:CN169374 not_specified Benign . . . 0.2881 . intronic . 0.321044 . . . . . . . . 0.2826 . -2 +3 38802620 SCN10A TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 3 0.0091853 0.0236 . . . . . . . . . intronic . 0.0005886 . . . . . . . . . . -2 +3 38804951 SCN10A G A 2 0.00159744 0.0040 . . . . . . . 0.0045 . intronic . 0.0031436 . . . . . . . . 0.0064 . 0 +3 38805069 SCN10A T C 4 0.0419329 0.0149 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0155 nonsynonymous_SNV exonic . 0.0243852 T . . . B D . . 0.0159 Name\x3d99.229262 -1 +3 38805130 SCN10A C G 7 0.11901 0.0481 . . . . . . . 0.0464 . intronic . 0.0664222 . . . . . . . . 0.0463 . -2 +3 38805157 SCN10A G A 6 0.00279553 0.0106 . . . . . . . . . intronic . 0.0017011 . . Name\x3dOREG1281719|N/A|CEBPA|PAZAR . . . . . . . -1 +3 38812708 SCN10A C T 77 0.416334 0.3809 . . . . . . . . . intronic . 0.0821852 . . . . . . . . . . -2 +3 38835173 SCN10A T A 2 0.00379393 0.0098 . . . . . . . . . intronic . 0.0018111 . . . . . . . . . . 0 +3 38835457 SCN10A G A 4 0.00299521 0.0105 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0070 synonymous_SNV exonic . 0.0056338 . . . . . . . . 0.0107 Name\x3d99.461943 -1 +3 38835461 SCN10A C A 2 0.00119808 0.0030 5.749 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3809893,OMIM:615551|MedGen:CN169374 Brugada_syndrome|Episodic_pain_syndrome,_familial,_2|not_specified Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0019146 D . . . D D . . 0.0030 Name\x3d99.225351 7 +3 38835509 SCN10A T A 1 0.000599042 0.0034 . MedGen:CN169374 not_specified Likely_benign . . . 0.0013 . upstream . 0.0008279 . . . . . . . . 0.0013 Name\x3d99.753586 1 +3 46899725 MYL3 G A 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . . 0.0001 . UTR3 . 6.47e-05 . . . . . . . . 0.0002 Name\x3d98.939816 3 +3 46900051 MYL3 G A 11 0.147165 0.0780 . . . . . . . . . intronic . 0.0189325 . . . . . . . . . Name\x3d96.867032 0 +3 46902129 MYL3 T G 26 0.462859 0.1193 . MedGen:CN169374 not_specified Benign . . . 0.1266 . intronic . 0.247416 . . . . . . . . 0.1248 Name\x3d97.525554 -1 +3 46902491 MYL3 C A 2 0.000998403 0.0021 . MedGen:C1837471,OMIM:608751|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_8|not_specified Benign/Likely_benign . . . 0.0019 . intronic . 0.0015782 . . . . . . . . 0.0037 Name\x3d99.302261 1 +3 46902578 MYL3 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d97.766111 1 +3 46904708 MYL3 C A 26 0.39397 0.1182 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000684896|Promoter . . 0.1250 . intronic . 0.209887 . . . . . . . . 0.1230 Name\x3d97.934619 1 +3 46904812 MYL3 G A 3 0.0371406 0.0075 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000684896|Promoter . . 0.0068 synonymous_SNV exonic . 0.0175095 . . . . . . . . 0.0074 Name\x3d99.539383 0 +3 52485889 TNNC1 C T 1 0.000199681 . . . . . Name\x3dENSR00000152555|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1707415|N/A|HNF4A|PAZAR,OREG1732360|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.807697 7 +3 57743337 SLMAP C G 51 0.192492 0.1865 . . . . Name\x3dENSR00000153102|Promoter . . 0.1976 . UTR5 . 0.196828 . . Name\x3dOREG1256099|N/A|SMARCA4|PAZAR . . . . . 0.1936 Name\x3d97.513890 2 +3 57835630 SLMAP G A 1 0.000399361 6.479e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +3 57843561 SLMAP C T 1 0.000599042 0.0001 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . 0.002 . . 0 +3 57846577 SLMAP C A 55 0.228634 0.1997 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2348 . intronic . 0.0131305 . . . . . . . . 0.1615 . -2 +3 57846627 SLMAP A G 1 0.000798722 0.0012 . . . . . . . . . intronic . 0.0006531 . . . . . . . . . . 0 +3 57847871 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +3 57857439 SLMAP A G 8 0.0147764 0.0459 . MedGen:CN169374 not_specified Benign . . . 0.0494 . intronic . 0.0342298 . . . . . . . . 0.0506 Name\x3d96.848298 -1 +3 57882601 SLMAP C T 60 0.299521 0.2522 . MedGen:CN169374 not_specified Benign . . . 0.2697 synonymous_SNV exonic . 0.279466 . . . . . . . . 0.2420 . -2 +3 57893558 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +3 57898376 SLMAP T A 7 0.0071885 0.0249 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0288 synonymous_SNV exonic . 0.0167268 . . . . . . . . 0.0320 Name\x3d96.563219 -1 +3 57898433 SLMAP A G 1 0.000399361 0.0002 . . . . . . . 0.0003 . intronic . 0.0002652 . . . . . . 0.0001 0.022 0.0005 . 0 +3 57902639 SLMAP G A 9 0.0133786 0.0330 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0323 synonymous_SNV exonic . 0.0233244 . . . . . . . . 0.0322 Name\x3d96.012318 -1 +3 57908594 SLMAP CT C 51 0.1875 0.1819 . . . . . . . 0.2006 . intronic . 0.0059184 . . . . . . . . 0.1907 Name\x3d96.026722 -1 +3 57912985 SLMAP G A 1 0.000399361 0.0001 . . . . . . . 0.0005 . intronic . 0.0001294 . . . . . . . . 0.0001 Name\x3d96.078911 1 +3 57913141 SLMAP T A 1 0.000199681 . . . . . . . . . . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d97.171516 3 +3 180702494 DNAJC19 T G 1 0.00199681 0.0100 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Benign . . . 0.0079 synonymous_SNV exonic . 0.0043272 . . . . . . . . 0.0043 Name\x3d99.549875 1 +3 180703653 DNAJC19 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.812597 3 +3 180703663 DNAJC19 A C 1 0.00199681 0.0024 . . . . . . . 0.0050 . intronic . 0.0032341 . . . . . . . . 0.0062 . 0 +3 180703743 DNAJC19 C T 1 0.000199681 . 4.150 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.332081 4.5 +3 180705871 DNAJC19 C T 3 0.00279553 0.0027 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000162646|Promoter . . 0.0043 synonymous_SNV exonic . 0.0041591 . . . . . . . . 0.0044 Name\x3d99.637186 6 +3 180705940 DNAJC19 C T 1 0.000199681 . . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.453258 4 +3 180706141 DNAJC19 CT C 61 0.289936 0.0382 . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 0.0010373 . . . . . . . . . . -1 +3 196771513 DLG1 G A 7 0.0251597 0.0561 4.635 . . . . . . 0.0537 nonsynonymous_SNV exonic . 0.0422634 T . . . D D . . 0.0471 . 3 +3 196771521 DLG1 G A 1 0.000199681 0.0003 . . . . . . . 9.214e-05 synonymous_SNV exonic . 0.0001876 . . . . . . . . . . 4 +3 196771554 DLG1 T C 7 0.0253594 0.0561 . . . . . . . 0.0538 synonymous_SNV exonic . 0.0422634 . . . . . . . . 0.0470 . 0 +3 196778421 DLG1 A C 3 0.0115815 0.0022 . . . . . . . 0.0045 . intronic . 0.0074385 . . . . . . . . 0.0031 . 0 +3 196778438 DLG1 C T 57 0.264577 0.2587 . . . . . . . 0.2668 . intronic . 0.258121 . . . . . . . . 0.28 . 0 +3 196786804 DLG1 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.639192 5 +3 196792163 DLG1 C T 1 0.00419329 0.0240 7.123 . . . . . . 0.0248 nonsynonymous_SNV exonic . 0.0165781 T . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . P T . . 0.0245 . 1 +3 196793475 DLG1 A T 7 0.0289537 0.0584 . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . . . . . . . 1 +3 196795292 DLG1 TAATC T 1 0.00299521 0.0059 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 2 +3 196795342 DLG1 A C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +3 196795442 DLG1 T C 1 0.00119808 0.0017 . . . . . . . 0.0019 . intronic . 0.000912 . . . . . . . . 0.0020 . 2 +3 196795990 DLG1 T C 2 0.000399361 6.488e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +3 196796231 DLG1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 196796248 DLG1 TTTTC T 15 0.0369409 0.0447 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +3 196802740 DLG1 T C 1 0.000199681 . 2.048 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T 0.0137 0.028 . Name\x3d97.734434 6.5 +3 196803647 DLG1 T C 63 0.252596 0.2817 . . . . . . . . . intronic . 0.0520368 . . . . . . . . . Name\x3d97.057768 1 +3 196807928 DLG1 A C 4 0.00559105 0.0100 1.923 . . . . . . 0.0108 nonsynonymous_SNV exonic . 0.0076713 T . . . B T . . 0.0134 Name\x3d96.870038 2.5 +3 196808026 DLG1 A C 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.0001617 . . . . . . . . . . 4 +3 196817735 DLG1 A T 7 0.029353 0.0583 . . . . . . . 0.0562 . intronic . 0.0447019 . . Name\x3dOREG1262717|N/A|SMARCA4|PAZAR . . . . . 0.0502 . 1 +3 196831946 DLG1 C T 3 0.00738818 0.0185 . . . . . . . . . intronic . 0.0024256 . . . . . . . . . . 0 +3 196846378 DLG1 G A 1 0.000199681 . 2.660 . . . . . . 3.701e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d95.539963 6.5 +3 196846437 DLG1 C T 34 0.0794728 0.1737 . . . . . . . 0.2002 . intronic . 0.129972 . . . . . . . . 0.1755 . 0 +3 196865242 DLG1 C T 38 0.127995 0.1376 4.417 . . . . . . 0.1488 nonsynonymous_SNV exonic . 0.149519 T . . . P T . . 0.1473 . 1.5 +3 196865301 DLG1 A G 7 0.0255591 0.0557 . . . . . . . 0.1794 . intronic . 0.028803 . . . . . . . . . . 0 +3 196869518 DLG1 T C 57 0.257188 0.2615 . . . . . . . . . intronic . 0.051707 . . . . . . . . 0.2719 . 0 +3 196869688 DLG1 A G 214 0.993211 1 . . . . . . . 1 . intronic . 0.944309 . . . . . . . . 0.9999 . 0 +3 196876600 DLG1 G A 34 0.0766773 0.1735 . . . . . . . 0.1795 . intronic rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396 0.135134 . . . . . . . . 0.1783 . 0 +3 196876717 DLG1 G A 1 0.00139776 0.0027 . . . . . . . 0.0023 . intronic . 0.0019081 . . . . . . . . 0.0031 . 2 +3 196876775 DLG1 T TTA 34 0.105032 0.1734 . . . . . . . . . intronic . 0.0237437 . . . . . . . . . . 0 +3 196921360 DLG1 T C 13 0.0145767 0.0504 2.040 . . . . . . 0.0464 nonsynonymous_SNV exonic . 0.0323476 T . . . B T . . 0.0443 . 1.5 +3 196921477 DLG1 C T 2 0.000998403 0.0003 . . . . . . . 0.0007 . intronic . 0.0008797 . . . . . . . . 0.0009 . 2 +3 197009609 DLG1 G A 1 0.000199681 . 4.090 . . . . . Name\x3dMIMAT0004588|hsa-miR-27b-5p|Experimental,MIMAT0000419|hsa-miR-27b-3p|Experimental,MIMAT0000232|hsa-miR-199a-3p|Experimental,MIMAT0000424|hsa-miR-128-3p|Experimental,MIMAT0004563|hsa-miR-199b-3p|Experimental 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . P T . . 0.0002 Name\x3d95.999583 7.5 +4 113825680 ANK2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.543641 5 +4 113971067 ANK2 A G 1 0.000399361 0.0013 . . . . Name\x3dENSR00000172116|Promoter . . . . intronic . 0.000194 . . . . . . . . . Name\x3d99.677334 4 +4 114117472 ANK2 C T 31 0.179113 0.1482 . . . . . . . . . intronic . 0.0300449 . . . . . . . . . Name\x3d97.032597 1 +4 114117474 ANK2 A AT 31 0.179113 0.1484 . . . . . . . 0.1522 . intronic . 0.0047735 . . . . . . . . 0.1442 Name\x3d97.032597 1 +4 114120284 ANK2 C T 3 0.0253594 0.0401 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0333 . intronic . 0.029508 . . . . . . . . 0.0293 Name\x3d97.945297 1 +4 114158111 ANK2 T C 1 0.000399361 0.0005 . . . . . . . 0.0006 . intronic . 0.0003752 . . . . . . . . 0.0005 . 2 +4 114158395 ANK2 TA T 3 0.0107827 0.0376 . . . . . . . . . intronic . 0.0038036 . . . . . . . . . Name\x3d99.301541 1 +4 114161619 ANK2 T C 2 0.00279553 0.0121 . . . . . . . 0.0107 . intronic . 0.007626 . . . . . . . . 0.0116 Name\x3d96.413888 1 +4 114171076 ANK2 A G 5 0.0549121 0.0492 . . . . . . . . . intronic . 0.0083763 . . . . . . . . . . 0 +4 114176848 ANK2 GA G 1 0.00159744 0.0393 . . . . . . . 0.2083 . intronic . 0.0008797 . . . . . . . . 0.1409 Name\x3d97.879617 1 +4 114176850 ANK2 A G 1 0.00159744 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.879617 3 +4 114179348 ANK2 C T 1 0.000399361 0.0006 . . . . . . . 0.0007 . intronic . 0.0003816 . . . . . . . . 0.0003 Name\x3d99.633578 3 +4 114186005 ANK2 C T 3 0.0291534 0.0412 . . . . . . . 0.0244 . intronic . 0.0125483 . . . . . . . . 0.0318 Name\x3d97.147601 1 +4 114186067 ANK2 A G 1 0.00159744 0.0028 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0095 synonymous_SNV exonic . 0.0017464 . . . . . . . . 0.0040 Name\x3d99.833615 3 +4 114209691 ANK2 C T 28 0.0790735 0.1067 . . . . . . . 0.1182 . intronic . 0.101059 . . . . . . . . 0.1069 Name\x3d97.756851 1 +4 114209732 ANK2 T C 32 0.177716 0.1139 . . . . . . . . . intronic rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255 0.137659 . . . . . . . . . Name\x3d96.949094 1 +4 114213551 ANK2 C T 4 0.00359425 0.0115 . . . . Name\x3dENSR00000733744|Promoter . . 0.0194 . intronic . 0.0105497 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0094 Name\x3d99.581974 3 +4 114213561 ANK2 G A 1 0.00119808 0.0082 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0099 . intronic . 0.0046312 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . 0.0003 0.056 0.0071 Name\x3d99.753507 5 +4 114213631 ANK2 C T 5 0.0215655 0.0456 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0442 synonymous_SNV exonic . 0.0284343 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0366 Name\x3d99.911971 3 +4 114213705 ANK2 C T 9 0.00499201 0.0102 . . . . Name\x3dENSR00000733744|Promoter . . 0.0154 . intronic . 0.0064876 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0122 Name\x3d99.340453 3 +4 114214524 ANK2 G T 2 0.00479233 6.483e-05 . . . . Name\x3dENSR00000733744|Promoter . . . . intronic . 0.0002781 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR . . . . . . Name\x3d99.835521 5 +4 114214588 ANK2 C T 1 0.00419329 0.0080 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0097 . intronic . 0.0018176 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR,OREG1777184|N/A|RBL2|PAZAR . . . 0.0001 0.014 0.0110 Name\x3d99.716817 3 +4 114254240 ANK2 G T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d99.846688 3 +4 114254322 ANK2 A G 2 0.000399361 . 2.396 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.706599 8 +4 114257201 ANK2 C T 19 0.260383 0.1040 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0981 synonymous_SNV exonic . 0.142657 . . . . . . . . 0.1038 Name\x3d99.755460 1 +4 114257694 ANK2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +4 114260492 ANK2 G T 19 0.228634 0.1050 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00001086178|Enhancer . . 0.0986 . intronic . 0.134468 . . . . . . . . 0.1044 Name\x3d96.343325 2 +4 114260538 ANK2 C T 19 0.230032 0.1047 . . . . Name\x3dENSR00001086178|Enhancer . . . . intronic . 0.0262804 . . . . . . . . . . 1 +4 114263101 ANK2 T G 34 0.0479233 0.1237 . . . . . . . 0.1348 . intronic . 0.0940673 . . . . . . . . 0.1369 Name\x3d97.613844 1 +4 114267023 ANK2 G A 214 0.9998 0.9995 . . . . . . . 0.9997 . intronic . 0.973843 . . . . . . . . 0.9997 Name\x3d97.556547 1 +4 114269499 ANK2 T G 19 0.0894569 . . . . . . . . 0.0004 . intronic . 0.0028978 . . . . . . . . . Name\x3d99.524547 1 +4 114269509 ANK2 G A 3 0.0960463 0.0182 . . . . . . . 0.0186 . intronic . 0.0393721 . . . . . . . . 0.0213 Name\x3d99.607284 1 +4 114269552 ANK2 G A 38 0.284744 0.1606 . . . . . . . . . intronic . 0.0361056 . . . . . . . . . Name\x3d96.655079 1 +4 114275177 ANK2 C G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.640615 5 +4 114275243 ANK2 C T 24 0.0389377 0.1211 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1145 synonymous_SNV exonic . 0.0808916 . . . . . . . . 0.1119 Name\x3d99.736381 1 +4 114275541 ANK2 G A 57 0.26258 . 4.891 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0085057 T . . . P D . . . Name\x3d99.921132 1 +4 114275942 ANK2 C G 5 0.11881 0.0209 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0233 synonymous_SNV exonic . 0.0476902 . . . . . . . . 0.0244 Name\x3d99.647808 1 +4 114275950 ANK2 C T 1 0.000199681 0.0012 1.613 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006533 T . . . P D . . 0.0007 Name\x3d99.647808 3 +4 114275980 ANK2 G A 1 0.000998403 0.0010 3.507 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.0009314 T . . . D D . . 0.0012 Name\x3d99.572303 6 +4 114276422 ANK2 C G 3 0.00139776 0.0029 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0002174|hsa-miR-484|Experimental 0.0036 synonymous_SNV exonic . 0.0023221 . . . . . . . . 0.0033 Name\x3d99.886637 8 +4 114276880 ANK2 T C 24 0.0920527 0.1245 -2.250 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733758|Promoter . . 0.1196 nonsynonymous_SNV exonic . 0.0970169 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR . B T . . 0.1163 Name\x3d99.181926 4.5 +4 114276884 ANK2 A G 38 0.284944 0.1611 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733758|Promoter . . 0.1604 synonymous_SNV exonic . 0.185787 . . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG0677412|N/A|FOXH1|JASPAR,OREG1857110|N/A|RUNX1|PAZAR . . . . . 0.1620 Name\x3d99.472388 3 +4 114276957 ANK2 A C 1 0.000199681 0.0003 0.715 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance Name\x3dENSR00000733758|Promoter . Name\x3dMIMAT0000423|hsa-miR-125b-5p|Experimental,MIMAT0000443|hsa-miR-125a-5p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.000207 T . Name\x3dOREG1857110|N/A|RUNX1|PAZAR,OREG0432123|N/A|BATF::JUN|JASPAR,OREG1217977|N/A|SMARCA4|PAZAR,OREG1541715|N/A|ETS1|PAZAR . D D . . 0.0002 Name\x3d99.223977 11 +4 114276986 ANK2 A T 1 0.000199681 . 4.593 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG1541715|N/A|ETS1|PAZAR . P D . . . Name\x3d99.745621 6 +4 114278277 ANK2 C T 14 0.187899 0.0371 0.373 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0409 nonsynonymous_SNV exonic . 0.0872628 T . . . B T . . 0.0457 Name\x3d99.526234 2.5 +4 114278684 ANK2 C T 1 0.000199681 . . . . . . . Name\x3dMIMAT0004926|hsa-miR-708-5p|Experimental 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.059120 6 +4 114278935 ANK2 C T 1 0.000199681 . 2.531 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.859512 8 +4 114279422 ANK2 A G 26 0.0920527 0.1240 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1199 synonymous_SNV exonic . 0.0981941 . . . . . . . . 0.1158 Name\x3d99.272082 1 +4 114279628 ANK2 T C 4 0.00399361 0.0126 4.950 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0109 nonsynonymous_SNV exonic . 0.0080917 D . . . D D . . 0.0090 Name\x3d99.821681 4 +4 114279674 ANK2 C A 8 0.00998403 0.0296 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0193529 D . . . B D . . 0.0317 Name\x3d99.641676 4 +4 114280145 ANK2 G A 2 0.00199681 0.0024 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0046 synonymous_SNV exonic . 0.0026972 . . . . . . . . 0.0031 Name\x3d99.683714 3 +4 114280169 ANK2 G A 1 0.000399361 0.0034 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0026 synonymous_SNV exonic . 0.0022315 . . . . . . . . 0.0043 Name\x3d99.818065 3 +4 114284645 ANK2 C T 24 0.0756789 0.1240 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign . . . 0.1191 . intronic . 0.0913895 . . . . . . . . 0.1156 . 0 +4 114286207 ANK2 T A 2 0.00199681 0.0024 4.753 EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0026067 T . . . B T . . 0.0031 Name\x3d99.643542 4.5 +4 114286357 ANK2 ATG A 198 0.76877 0.7821 . MedGen:CN169374 not_specified Benign . . . 0.5255 . intronic . 0.0001035 . . . . . . . . . Name\x3d97.447315 1 +4 114289049 ANK2 A C 1 0.000199681 . . . . . . . . 1.87e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.691871 5 +4 114289062 ANK2 G A 4 0.0714856 0.0205 . . . . . . . . . intronic . 0.0079559 . . . . . . . . . Name\x3d96.000845 1 +4 114294308 ANK2 T C 38 0.313299 0.1614 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1580 synonymous_SNV exonic . 0.194545 . . . . . . . . 0.1601 Name\x3d99.769104 1 +4 114302634 ANK2 C T 6 0.0177716 0.0281 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign Name\x3dENSR00001086182|Enhancer . . 0.0407 . UTR3 . 0.0294045 . . . . . . . . 0.0347 Name\x3d99.732055 2 +4 120072006 MYOZ2 C T 1 0.000399361 0.0011 . . . . . . . 0.0018 . intronic . 0.000912 . . . . . . . . 0.0015 . 2 +4 120072187 MYOZ2 A G 4 0.00379393 0.0125 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0149 synonymous_SNV exonic . 0.0098446 . . . . . . . . 0.0140 Name\x3d99.332482 1 +4 120072233 MYOZ2 G C 145 0.54353 0.7029 . . . . . . . 0.6986 . intronic . 0.601726 . . . . . . . . 0.7245 . 2 +4 120072238 MYOZ2 A G 145 0.544129 0.7026 . . . . . . . 0.6987 . intronic . 0.6371 . . . . . . . . 0.7248 . 2 +4 120079159 MYOZ2 A G 145 0.546326 0.7052 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign . . . 0.6992 . intronic . 0.0002458 . . . . . . . . 0.7257 Name\x3d99.369454 3 +4 120085448 MYOZ2 A G 7 0.0838658 0.0253 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0245 synonymous_SNV exonic . 0.0428714 . . . . . . . . 0.0248 Name\x3d99.754084 1 +4 120107098 MYOZ2 G GT 37 0.240216 0.2051 . MedGen:CN169374 not_specified Benign . . . 0.2672 . intronic . 0.0057502 . . . . . . . . 0.1878 Name\x3d97.515454 1 +4 186064502 SLC25A4 G A 4 0.0788738 0.0142 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign Name\x3dENSR00000177010|Promoter . . 0.0185 . UTR5 . 0.0132857 . . Name\x3dOREG1514830|N/A|EGR1|PAZAR,OREG1274044|N/A|SMARCA4|PAZAR . . . . . 0.0099 Name\x3d99.145465 1 +4 186066373 SLC25A4 T C 2 0.00239617 0.0146 . MedGen:CN169374|MedGen:CN239267|MedGen:CN517202 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions|not_provided Benign/Likely_benign Name\x3dENSR00000177010|Promoter . . 0.0106 synonymous_SNV exonic . 0.0085963 . . . . . . . . 0.0105 Name\x3d99.780542 0 +4 186067934 SLC25A4 G A 1 0.000199681 6.483e-05 . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.870275 3 +4 186423397 PDLIM3 G A 1 0.00379393 0.0047 . . . . . . . 0.0038 . UTR3 . 0.0052069 . . . . . . . . 0.0052 . 2 +4 186423436 PDLIM3 G A 4 0.00858626 0.0131 . MedGen:CN169374 not_specified Benign . . . 0.0126 . UTR3 . 0.0109442 . . . . . . . . 0.0129 . 0 +4 186423637 PDLIM3 G A 153 0.659545 0.8586 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.8488 synonymous_SNV exonic . 0.778496 . . . . . . 0.0005 0.088 0.8535 Name\x3d97.078458 1 +4 186423655 PDLIM3 G A 24 0.139177 0.1655 . MedGen:CN169374 not_specified Benign . . . 0.1599 . intronic . 0.156382 . . . . . . . . 0.1602 . 0 +4 186423677 PDLIM3 G A 153 0.659545 0.8588 . . . . . . . 0.8497 . intronic . 0.76966 . . . . . . . . 0.8542 . 0 +4 186425571 PDLIM3 A G 3 0.0369409 0.0126 . . . . . . . . . intronic . 0.0035575 . . Name\x3dOREG1725750|N/A|HNF4A|PAZAR,OREG1749494|N/A|HNF4A|PAZAR . . . . . . . 1 +4 186425638 PDLIM3 C T 1 0.000199681 0.0003 2.167 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 9.7e-05 T . Name\x3dOREG1749494|N/A|HNF4A|PAZAR,OREG1842298|N/A|RB1|PAZAR,OREG1302906|N/A|CEBPA|PAZAR,OREG1725750|N/A|HNF4A|PAZAR,OREG1787830|N/A|RBL2|PAZAR . B T . . 0.0003 Name\x3d98.515990 7.5 +4 186427686 PDLIM3 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . . 4 +4 186427735 PDLIM3 G A 5 0.00559105 0.0279 1.346 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0246 nonsynonymous_SNV exonic . 0.0175095 T . . . B D . . 0.0210 Name\x3d95.985870 1 +4 186427841 PDLIM3 T C 154 0.764177 0.8605 . . . . . . . 0.8512 . intronic . 0.787085 . . . . . . . . 0.8549 . 0 +4 186427871 PDLIM3 A G 57 0.197883 0.1237 . . . . . . . . . intronic . 0.0281885 . . . . . . . . . . 0 +4 186435435 PDLIM3 C T 1 0.000599042 0.0023 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0029 synonymous_SNV exonic . 0.00174 . . Name\x3dOREG1598303|N/A|FOXA1|PAZAR,OREG1656640|N/A|FOXA1|PAZAR,OREG1190569|N/A|TFAP2C|PAZAR . . . . . 0.0020 Name\x3d97.389337 4 +4 186435563 PDLIM3 A G 1 0.000199681 0.0002 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1656640|N/A|FOXA1|PAZAR,OREG1598303|N/A|FOXA1|PAZAR . . . . . . . 5 +4 186444698 PDLIM3 A C 160 0.719249 0.8747 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +4 186446257 PDLIM3 G A 2 0.00259585 0.0098 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0108 synonymous_SNV exonic . 0.0078201 . . . . . . . . 0.0099 Name\x3d97.508747 1 +4 186446365 PDLIM3 G A 1 0.000399361 0.0001 . . . . . . . 0.0002 . intronic . 0.0002587 . . . . . . . . 0.0001 . 4 +4 186456617 PDLIM3 A G 214 0.948283 0.9998 . . . . Name\x3dENSR00000177061|Promoter . . 0.9997 . UTR5 . 0.0052781 . . . . . . . . 0.9993 . 1 +5 218381 SDHA T TC 20 0.247005 0.1123 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency Likely_benign Name\x3dENSR00000177383|Promoter . . . . UTR5 . 0.025972 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1479573|N/A|E2F4|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR,OREG1849817|N/A|RB1|PAZAR . . . . . . Name\x3d98.808005 3 +5 218598 SDHA G A 100 0.329872 0.4997 . . . . Name\x3dENSR00000177383|Promoter . . . . intronic . 0.403489 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR . . . . . . Name\x3d98.862887 3 +5 223646 SDHA A T 8 0.0185703 0.0453 0.820 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided Benign/Likely_benign . . . 0.0436 nonsynonymous_SNV exonic . 0.0349931 T . . . B T . . 0.0456 Name\x3d98.927148 2.5 +5 224418 SDHA T G 20 0.247404 0.1130 . . . . . . . . . intronic . 0.0229816 . . . . . . . . . . 1 +5 224633 SDHA A G 20 0.240016 0.1125 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1258 synonymous_SNV exonic . 0.149092 . . . . . . . . 0.1294 Name\x3d99.433347 2 +5 224684 SDHA G A 2 0.00439297 0.0047 . . . . . . . 0.0038 . intronic . 0.0042043 . . . . . . . . 0.0057 . 2 +5 224692 SDHA G T 20 0.244209 0.1128 . . . . . . . . . intronic . 0.0289065 . . . . . . . . . . 1 +5 225515 SDHA G T 1 0.00139776 0.0041 . MedGen:C3279992,OMIM:614165|MedGen:CN169374 Paragangliomas_5|not_specified Likely_benign . . . 0.0033 . intronic . 0.0018564 . . . . . . . . 0.0026 Name\x3d98.769861 3 +5 225709 SDHA G A 1 0.113019 0.0021 . . . . . . . 0.0032 . intronic . 0.0307564 . . . . . . . . 0.0034 Name\x3d96.985478 3 +5 225941 SDHA C T 40 0.307907 0.2578 . . . . . . . . . intronic . 0.0506656 . . . . . . . . . Name\x3d97.806467 2 +5 226160 SDHA A C 20 0.247404 0.1126 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1286 synonymous_SNV exonic . 0.154228 . . . . . . 0.0001 . 0.1359 Name\x3d99.261354 2 +5 226222 SDHA T C 20 0.247404 0.1128 . . . . . . . . . intronic . 0.0307435 . . . . . . . . . . 1 +5 228278 SDHA CT C 20 0.234625 0.1119 . MedGen:CN169374 not_specified Benign . . . 0.1274 . intronic . 0.0003752 . . . . . . . . 0.1308 Name\x3d96.209094 1 +5 228362 SDHA T C 20 0.247404 0.1130 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1282 synonymous_SNV exonic . 0.152249 . . . . . . . . 0.1360 Name\x3d99.311559 2 +5 230942 SDHA G C 3 0.000998403 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.527022 7 +5 230943 SDHA T C 3 0.000998403 . . . . . . . . . . intronic . 0.0001229 . . . . . . . . . Name\x3d97.527022 7 +5 230980 SDHA A G 167 0.858427 0.8849 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign . . . 0.8853 . intronic . 0.0002975 . . . . . . . . 0.8817 Name\x3d97.455746 3 +5 231042 SDHA C T 1 0.00998403 0.0025 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0036 synonymous_SNV exonic . 0.0045407 . . . . . . . . 0.0036 Name\x3d98.877112 3 +5 231111 SDHA T C 140 0.653355 0.7581 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.7582 synonymous_SNV exonic . 0.693354 . . . . . . . . 0.7582 Name\x3d99.521608 3 +5 231143 SDHA T C 20 0.247404 0.1130 . . . . . . . 0.1281 . intronic . 0.152702 . . . . . . . . 0.1356 Name\x3d97.132462 2 +5 233560 SDHA G A 1 0.114018 0.0021 . . . . . . . 0.0032 . intronic . 0.0313515 . . . . . . . . 0.0035 . 2 +5 233572 SDHA A G 20 0.247204 0.1128 . MedGen:CN169374 not_specified Benign . . . 0.1284 . intronic . 0.153931 . . . . . . . . 0.1364 . 1 +5 233698 SDHA G A 2 0.000399361 0.0010 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0008215 . . . . . . . . 0.0012 Name\x3d99.202933 3 +5 233734 SDHA C G 20 0.257788 0.1123 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1290 synonymous_SNV exonic . 0.157113 . . . . . . . . 0.1373 Name\x3d99.378984 2 +5 235345 SDHA C G 2 0.000399361 . 12.451 MedGen:C0027672,SNOMED_CT:699346009 Hereditary_cancer-predisposing_syndrome Pathogenic . . . 3.684e-05 stopgain exonic . 2.59e-05 . . . . . . . . . Name\x3d99.398012 13 +5 235364 SDHA C T 1 0.113618 0.0021 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0312415 . . . . . . . . 0.0035 Name\x3d99.272564 3 +5 235416 SDHA T C 1 0.000199681 . 6.036 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.452563 11 +5 236482 SDHA A G 2 0.00219649 . . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 2 +5 236587 SDHA G T 3 0.0151757 0.0199 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0242 synonymous_SNV exonic . 0.0176582 . . . . . . . . 0.0208 Name\x3d99.137033 1 +5 236695 SDHA C T 1 0.000798722 0.0019 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0033 synonymous_SNV exonic . 0.001934 . . . . . . . . 0.0036 Name\x3d99.192125 3 +5 236753 SDHA C T 20 0.246805 0.1111 . . . . . . . 0.1259 . intronic . 0.138763 . . . . . . . . 0.1336 . 1 +5 236760 SDHA C A 22 0.2498 0.1182 . . . . . . . 0.1356 . intronic . 0.143219 . . . . . . . . 0.1403 . 1 +5 240663 SDHA A T 20 0.247604 0.1125 . . . . . . . . . intronic . 0.0205883 . . . . . . . . . . 1 +5 251055 SDHA G A 1 0.00239617 0.0131 . . . . . . . . . intronic . 0.0011643 . . . . . . . . 0.0083 Name\x3d95.178484 1 +5 251178 SDHA G A 4 0.00199681 0.0016 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0030 synonymous_SNV exonic . 0.0019922 . . . . . . . . 0.0028 Name\x3d99.035141 7 +5 251207 SDHA C T 1 0.000399361 . 3.930 MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 4.53e-05 D . . . P D . . . Name\x3d98.958665 8 +5 251419 SDHA C T 20 0.248203 0.1121 . . . . . . . 0.1198 . intronic . 0.118194 . . . . . . . . . Name\x3d97.297854 1 +5 251469 SDHA G A 20 0.248403 0.1123 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1291 synonymous_SNV exonic . 0.136589 . . . . . . . . . Name\x3d99.239810 1 +5 251526 SDHA C T 1 0.000199681 . . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign . . . 5.557e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.421960 5 +5 251541 SDHA A G 20 0.248403 0.1128 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1281 synonymous_SNV exonic . 0.0006145 . . . . . . . . 0.1357 Name\x3d99.431633 2 +5 254442 SDHA C T 214 0.973442 0.9998 . . . . . . . 0.9997 . intronic . 0.323974 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . . 1 +5 254636 SDHA C T 17 0.0355431 0.1168 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign . . . 0.1189 . intronic . 0.0075096 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.090341 2 +5 256422 SDHA A T 1 0.000399361 0.0003 . . . . . . . 0.0002 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d95.750638 5 +5 256472 SDHA G A 53 0.335264 0.1223 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1420 synonymous_SNV exonic . 0.166518 . . . . . . . . 0.1436 Name\x3d99.240301 2 +5 256509 SDHA G A 19 0.175319 0.1079 0.913 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1213 nonsynonymous_SNV exonic . 0.126143 T . . . B T . . 0.1299 Name\x3d98.946319 3.5 +5 37294473 NUP155 T C 68 0.277157 0.2890 . . . . . . . 0.3083 synonymous_SNV exonic . 0.28281 . . . . . . . . 0.2929 Name\x3d99.288645 1 +5 37298896 NUP155 C T 1 0.000199681 6.483e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +5 37307389 NUP155 T C 5 0.0589058 0.0492 . . . . . . . 0.0420 . intronic . 0.0483823 . . . . . . . . 0.0406 Name\x3d96.994926 1 +5 37309371 NUP155 TAGA T 67 0.269169 0.2863 . . . . . . . 0.3048 . intronic . 0.0083375 . . . . . . . . 0.2911 Name\x3d96.956893 1 +5 37314287 NUP155 T TA 1 0.000599042 0.0023 . . . . . . . 0.0028 . intronic . 0.0001488 . . . . . . . . 0.0019 . 2 +5 37318029 NUP155 T C 1 0.000199681 0.0001 . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.791170 5 +5 37325919 NUP155 A C 5 0.0423323 0.0477 . . . . . . . . . intronic . 0.0080788 . . . . . . . . . . 0 +5 37325940 NUP155 T C 26 0.147963 0.1649 . . . . . . . . . intronic . 0.0292881 . . . . . . . . 0.1479 . 0 +5 37327832 NUP155 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.738026 5 +5 37328643 NUP155 T C 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001746 . . . . . . . . . . 2 +5 37331795 NUP155 A G 1 0.00159744 0.0051 . . . . . . . 0.0070 synonymous_SNV exonic . 0.0045342 . . . . . . . . 0.0069 Name\x3d98.333359 3 +5 37333727 NUP155 A G 29 0.355032 0.1689 . . . . . . Name\x3dMIMAT0000272|hsa-miR-215-5p|Experimental,MIMAT0003393|hsa-miR-425-5p|Experimental 0.1698 synonymous_SNV exonic . 0.221685 . . . . . . . . 0.1599 Name\x3d99.118516 2 +5 37337942 NUP155 T C 1 0.000199681 . 2.170 . . . . . Name\x3dMIMAT0000256|hsa-miR-181a-5p|Experimental 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.711293 7.5 +5 37341352 NUP155 T C 50 0.188698 0.2135 . . . . . . . 0.2127 . intronic . 0.203574 . . . . . . 0.0001 0.002 0.2115 Name\x3d98.829204 1 +5 37350390 NUP155 C A 28 0.33766 0.1692 . . . . . . . 0.1654 . intronic . 0.215948 . . . . . . . . 0.1597 . 0 +5 37351270 NUP155 C A 1 0.000798722 0.0023 . . . . . . . 0.0015 . intronic . 0.00163 . . . . . . . . . . 2 +5 37352816 NUP155 C T 1 0.000798722 0.0002 . . . . . . . 0.0001 . intronic . 0.000207 . . . . . . . . 0.0002 . 2 +5 37352829 NUP155 G A 2 0.0656949 0.0032 . . . . . . . 0.0038 . intronic . 0.021882 . . . . . . . . 0.0041 . 0 +5 37364133 NUP155 CTTT C 1 0.0169728 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . 0.0005 . 0 +5 37364443 NUP155 C T 214 0.969649 0.9999 . . . . . . . 1.0000 synonymous_SNV exonic . 0.947614 . . . . . . . . 0.9999 Name\x3d99.426196 1 +5 37371059 NUP155 G A 4 0.0071885 0.0100 . . . . Name\x3dENSR00000179619|Promoter . . 0.0103 synonymous_SNV exonic . 0.0087903 . . Name\x3dOREG1898549|N/A|STAT1|PAZAR,OREG1236977|N/A|SMARCA4|PAZAR,OREG1786159|N/A|RBL2|PAZAR,OREG1792151|N/A|RBL2|PAZAR,OREG1841146|N/A|RB1|PAZAR,OREG1862360|N/A|SPI1|PAZAR,OREG1821245|N/A|RBL2|PAZAR,OREG1805811|N/A|RBL2|PAZAR,OREG1551289|N/A|ETS1|PAZAR,OREG1851033|N/A|RB1|PAZAR,OREG1846798|N/A|RB1|PAZAR . . . . . 0.0085 Name\x3d99.249928 3 +5 155756623 SGCD G T 1 0.000199681 0.0025 . . . . . . . 0.0026 . intronic . 0.0003493 . . . . . . . . 0.0020 . 2 +5 155771458 SGCD G T 1 0.00119808 0.0106 . . . . . . . 0.0138 . intronic . 0.0084928 . . . . . . . . 0.0128 Name\x3d99.400906 1 +5 155771579 SGCD T C 100 0.485423 0.4324 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.4358 synonymous_SNV exonic . 0.453118 . . . . . . . . 0.4316 Name\x3d99.799992 1 +5 155935708 SGCD G A 9 0.0189696 0.0577 7.006 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0641 nonsynonymous_SNV exonic . 0.0441327 T . . . P T . . 0.0642 Name\x3d99.317093 1 +5 155935720 SGCD T C 3 0.00279553 0.0089 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0086 . intronic . 0.006216 . . . . . . 0.0001 . 0.0091 Name\x3d99.569232 7 +5 156022101 SGCD G A 1 0.000399361 0.0006 . . . . . . . 0.0003 . intronic . 0.0006662 . . . . . . . . 0.0002 . 2 +5 156074654 SGCD TAAATTGA T 186 0.89996 0.8855 . . . . Name\x3dENSR00000774931|Enhancer . . . . intronic . 0.0004226 . . Name\x3dOREG1656508|N/A|FOXA1|PAZAR . . . . . . . 2 +5 172659511 na C A 71 0.255591 0.3627 . MedGen:CN169374 not_specified Benign . . . . . UTR3 . 0.0632786 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . . Name\x3d99.326052 0 +5 172660004 na C T 4 0.00479233 0.0060 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736 Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0103 synonymous_SNV exonic . 0.0067722 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . 0.0077 Name\x3d99.955476 0 +5 172660099 na C T 1 0.000199681 . 6.295 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1497667|N/A|EGR1|PAZAR . P D . . . Name\x3d99.954493 7 +5 172660523 na T A 98 0.610623 0.2944 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000778148|Promoter . . 0.3978 . intronic . 0.0002393 . . . . . . . . . . -1 +5 172660527 na T A 85 0.403355 0.4262 . . . . Name\x3dENSR00000778148|Promoter . . 0.3689 . intronic . 0.0001035 . . . . . . . . . . -1 +5 172661690 na C T 1 0.00519169 0.0178 . . . . Name\x3dENSR00000778148|Promoter . . . . intronic . 0.0054557 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . . Name\x3d99.722202 1 +5 172661843 na A T 1 0.000199681 6.491e-05 1.130 . . . Name\x3dENSR00000778148|Promoter . . 4.083e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1497668|N/A|EGR1|PAZAR . B T . . . Name\x3d99.950030 6.5 +5 172662024 na T C 60 0.535743 0.2933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000778148|Promoter . . 0.3030 synonymous_SNV exonic . 0.0015847 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . 0.2813 Name\x3d99.951883 1 +6 7542148 DSP C CA 23 0.199681 0.1430 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . Name\x3dMIMAT0004776|hsa-miR-505-5p|Experimental 0.1680 . UTR5 . 0.0053233 . . . . . . . . 0.1456 Name\x3d99.934522 3 +6 7542236 DSP G A 1 0.00219649 0.0016 -2.115 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000192801|Promoter . . 0.0034 nonsynonymous_SNV exonic . 0.0014812 T . . . B T . . 0.0019 Name\x3d99.934048 5.5 +6 7542253 DSP G A 3 0.00339457 0.0050 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified Benign/Likely_benign Name\x3dENSR00000192801|Promoter . . 0.0164 synonymous_SNV exonic . 0.0050452 . . . . . . . . 0.0087 Name\x3d99.944163 2 +6 7542274 DSP T C 15 0.0609026 0.0535 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . . 0.1182 synonymous_SNV exonic . 0.0413449 . . . . . . . . 0.0524 Name\x3d99.927953 2 +6 7556063 DSP C T 6 0.0125799 0.0338 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified Benign/Likely_benign . . . 0.0371 . intronic . 0.023719 . . . . . . . . 0.0378 Name\x3d97.662519 1 +6 7558318 DSP T C 59 0.15615 0.2280 . MedGen:CN169374 not_specified Benign . . . 0.2353 . intronic . 0.195897 . . Name\x3dOREG1605381|N/A|FOXA1|PAZAR,OREG1663620|N/A|FOXA1|PAZAR . . . . . 0.2349 Name\x3d98.908118 2 +6 7563982 DSP C T 1 0.000199681 . 2.649 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.831270 8 +6 7563983 DSP T G 214 1 0.9992 . MedGen:CN169374 not_specified Likely_benign . . . 0.9985 synonymous_SNV exonic . 0.964399 . . . . . . . . 0.9981 Name\x3d99.831270 1 +6 7564139 DSP C G 60 0.345647 0.2847 . . . . . . . . . intronic . 0.0593524 . . . . . . . . . . 0 +6 7565627 DSP G T 1 0.000199681 . 2.456 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d99.896415 5 +6 7565727 DSP A T 10 0.0183706 0.0389 5.980 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0386 nonsynonymous_SNV exonic . 0.0303877 D . . . D D . . 0.0419 Name\x3d99.907885 7 +6 7565801 DSP C G 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +6 7566745 DSP G GA 4 0.0239617 0.0009 . . . . . . . 0.0776 . intronic . 0.0002846 . . . . . . . . 0.0299 Name\x3d97.223129 1 +6 7567970 DSP C T 166 0.772764 0.7559 . MedGen:CN169374 not_specified Benign . . . 0.7653 . intronic . 0.75272 . . . . . . . . 0.7752 . 0 +6 7569353 DSP T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 7571874 DSP G A 167 0.819688 0.7604 . . . . . . . . . intronic . 0.150134 . . . . . . . . . Name\x3d97.423943 1 +6 7572026 DSP T A 92 0.508986 0.4026 . MedGen:CN169374 not_specified Benign . . . 0.4082 . intronic . 0.442459 . . . . . . . . 0.4183 . 0 +6 7572262 DSP A G 167 0.774361 0.76 . MedGen:CN169374 not_specified Benign . . . 0.7690 synonymous_SNV exonic . 0.750851 . . . . . . . . 0.7795 Name\x3d99.831281 1 +6 7574536 DSP T C 4 0.140974 0.0083 . . . . . . . 0.0123 . intronic . 0.0680586 . . . . . . . . 0.0104 Name\x3d96.085969 1 +6 7574852 DSP T C 15 0.0638978 0.0532 . . . . . . . 0.0544 . intronic . 0.0523991 . . . . . . . . 0.0577 Name\x3d99.336561 1 +6 7576527 DSP G A 170 0.735423 0.7828 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.7990 synonymous_SNV exonic . 0.76891 . . . . . . 0.0001 0.03 0.8024 Name\x3d99.670850 1 +6 7577260 DSP C T 50 0.27516 0.2310 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.2189 synonymous_SNV exonic . 0.238263 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . 0.2159 Name\x3d99.933623 2 +6 7577354 DSP C A 141 0.69389 0.6020 . . . . . . . . . intronic . 0.123064 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . . Name\x3d96.351438 2 +6 7578189 DSP G A 62 0.279353 0.3079 . . . . . . . . . intronic . 0.296219 . . . . . . . . . Name\x3d97.980652 1 +6 7578819 DSP T G 170 0.740016 0.7803 . MedGen:CN169374 not_specified Benign . . . 0.7987 . intronic . 0.75261 . . . . . . . . 0.8023 Name\x3d99.050066 1 +6 7578823 DSP G A 170 0.764377 0.7818 . MedGen:CN169374 not_specified Benign . . . 0.7991 . intronic . 0.004573 . . . . . . . . 0.8030 Name\x3d97.850793 1 +6 7579705 DSP G C 1 0.000199681 . 5.683 . . . . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . P D . . . Name\x3d99.930087 8 +6 7580285 DSP A C 1 0.000399361 6.486e-05 0.765 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 0.0004 nonsynonymous_SNV exonic . 0.0002975 D . Name\x3dOREG1934472|N/A|TAL1|PAZAR . D T . . 0.0001 Name\x3d99.952498 10 +6 7580346 DSP G C 1 0.000199681 . 4.219 . . . Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 3.699e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . P D . . . Name\x3d99.910344 6 +6 7580386 DSP G A 3 0.00579073 0.0168 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000782355|TF_binding_site . . 0.0199 synonymous_SNV exonic . 0.0135186 . . . . . . . . 0.0149 Name\x3d99.955118 2 +6 7580935 DSP C T 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . . . . . . Name\x3d99.855564 6 +6 7580958 DSP A G 8 0.203275 0.0386 0.670 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.0457 nonsynonymous_SNV exonic . 0.109785 T . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . P T . . 0.0442 Name\x3d99.927395 3.5 +6 7581001 DSP C A 1 0.0511182 0.0003 -0.527 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0130723 T . Name\x3dOREG1685201|N/A|GATA3|PAZAR,OREG1663621|N/A|FOXA1|PAZAR . B T . . 0.0007 Name\x3d99.907499 3.5 +6 7581196 DSP G A 2 0.0071885 0.0169 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0198 synonymous_SNV exonic . 0.013635 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR . . . . . 0.0174 Name\x3d99.942304 2 +6 7581636 DSP G A 33 0.240415 0.1256 0.509 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1221 nonsynonymous_SNV exonic . 0.167656 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . B T . . 0.1257 Name\x3d99.874629 3.5 +6 7581641 DSP G A 1 0.000399361 0.0010 0.993 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0002076,MedGen:C3887485,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0012872 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . D D . . 0.0013 Name\x3d99.893308 7 +6 7582993 DSP A T 6 0.00399361 0.0148 6.311 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental 0.0142 nonsynonymous_SNV exonic . 0.0092431 T . . . D D . . 0.0130 Name\x3d99.955679 5 +6 7583885 DSP T C 3 0.00658946 0.0126 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0102909 . . . . . . . . 0.0136 Name\x3d99.934046 1 +6 7583946 DSP C T 1 0.000199681 . 6.649 MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 D . . . D D . . . Name\x3d99.943048 11 +6 7584617 DSP C T 83 0.211661 0.3326 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.3558 synonymous_SNV exonic . 0.289957 . . . . . . . . 0.3690 Name\x3d99.934879 1 +6 7584876 DSP C T 1 0.000199681 . 5.363 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.943321 11 +6 7585670 DSP C A 9 0.0239617 0.0611 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental 0.0680 synonymous_SNV exonic . 0.0466618 . . Name\x3dOREG0600254|N/A|ELF1|JASPAR . . . . . 0.0633 Name\x3d99.921658 3 +6 7585967 DSP G C 153 0.709465 0.6834 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype Benign . . . 0.7106 synonymous_SNV exonic . 0.139468 . . . . . . . . 0.7173 Name\x3d99.911143 1 +6 7586120 DSP T A 2 0.00319489 0.0071 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000451|hsa-miR-150-5p|Experimental 0.0071 . UTR3 . 0.0055821 . . . . . . . . 0.0109 Name\x3d99.702399 2 +6 26087649 LOC108783645 G A 1 0.000199681 . . . . . Name\x3dENSR00000786464|Promoter . . 0.0001 . ncRNA_exonic . 5.82e-05 . . Name\x3dOREG1253332|N/A|SMARCA4|PAZAR,OREG1491899|N/A|EGR1|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . 0.0002 Name\x3d99.351223 5 +6 26087856 LOC108783645 T A 71 0.39377 0.4142 . . . . Name\x3dENSR00000786464|Promoter . . . . ncRNA_exonic . 0.397994 . . Name\x3dOREG1491899|N/A|EGR1|PAZAR,OREG1253332|N/A|SMARCA4|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . . Name\x3d99.260303 3 +6 26091047 LOC108783645 A G 1 0.000199681 0.0003 . . . . . . . 0.0001 . ncRNA_exonic . 0.0002264 . . . . . . . . 0.0002 Name\x3d97.355485 3 +6 26091179 HFE C G 38 0.0730831 0.1452 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor . . . 0.1334 nonsynonymous_SNV exonic rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976 0.109171 D . . . B D . . 0.1513 Name\x3d99.738438 2 +6 26091185 HFE A T 1 0.00399361 0.0137 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance . . . 0.0146 nonsynonymous_SNV exonic . 0.0102263 D . . . D D . . 0.0151 Name\x3d99.765894 2 +6 26091309 HFE T C 1 0.000199681 . 3.831 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D T . . . Name\x3d99.757263 6 +6 26091336 HFE T C 75 0.426717 0.3210 . MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374 Hereditary_hemochromatosis|not_specified Benign/Likely_benign . . . 0.3174 . intronic rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258 0.363973 . . . . . . . 0.014 0.3356 Name\x3d99.669660 -1 +6 26092865 HFE C G 1 0.0425319 0.0013 . . . . . . . 0.0017 . intronic . 0.0127359 . . . . . . . . 0.0007 Name\x3d99.349569 -1 +6 26093125 HFE G A 1 0.00179712 0.0003 5.999 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0032859 T . . . D D . . 0.0007 Name\x3d99.712262 4 +6 26093141 HFE G A 6 0.0125799 0.0595 5.270 .|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor . . . 0.0504 nonsynonymous_SNV exonic rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068 0.0349737 D . . . D D . . 0.0641 Name\x3d99.809052 6 +6 26093236 HFE G A 16 0.13139 0.1255 . . HFE_INTRONIC_POLYMORPHISM Benign . . . 0.1288 . intronic . 0.129895 . . . . . . . . 0.1291 Name\x3d98.119702 -1 +6 26093297 HFE G A 1 0.00319489 0.0110 . . . . . . . 0.0102 . intronic . 0.006727 . . . . . . . . 0.0083 Name\x3d96.191714 -1 +6 26093303 HFE T C 13 0.21865 0.0653 . . . . . . . 0.0694 . intronic . 0.137831 . . . . . . . . 0.0628 Name\x3d96.397956 -1 +6 26094346 HFE G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.229116 3 +6 26094367 HFE G A 91 0.590655 0.4531 . . . . . . . 0.4518 . intronic . 0.504263 . . . . . . . . 0.4708 Name\x3d95.797290 -1 +6 26094515 HFE C T 1 0.0091853 0.0004 . . . . . . . . . UTR3 . 0.0004722 . . . . . . . . . . 0 +6 76538403 MYO6 G A 110 0.687899 0.5244 . . . . . . . . . intronic . 0.111072 . . . . . . . . . . 0 +6 76540088 MYO6 A G 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 0.0001682 . . . . . . . . . . 4 +6 76545684 MYO6 T C 33 0.102636 0.1481 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.1494 . intronic . 0.0008344 . . . . . . . . 0.1521 Name\x3d97.846450 1 +6 76550237 MYO6 A G 33 0.102835 0.1476 . . . . . . . . . intronic . 0.0248897 . . . . . . . . . . 0 +6 76554593 MYO6 G A 209 0.997804 0.9875 . . . . . . . 0.9845 . intronic . 0.0003234 . . . . . . . . 0.9868 Name\x3d96.069541 1 +6 76558200 MYO6 G A 1 0.000199681 0.0004 3.506 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0003 nonsynonymous_SNV exonic . 0.0002911 T . . . D T . . 0.0002 Name\x3d99.377391 5 +6 76558260 MYO6 A AT 7 0.139577 0.0577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0587 . intronic . 0.0002005 . . . . . . . . 0.0583 Name\x3d96.410949 1 +6 76564953 MYO6 A G 2 0.0265575 0.0147 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign Name\x3dENSR00000796121|TF_binding_site . . 0.0139 synonymous_SNV exonic . 0.0164552 . . . . . . . . 0.0130 Name\x3d99.559899 2 +6 76566810 MYO6 A G 3 0.00199681 0.0038 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0031 . intronic . 0.0023286 . . . . . . . 0.002 0.0042 . 6 +6 76572240 MYO6 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 76572389 MYO6 A G 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.270533 5 +6 76576290 MYO6 C T 14 0.0289537 0.0593 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439|MedGen:CN517202 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive|not_provided Benign/Likely_benign . . . 0.0627 synonymous_SNV exonic . 0.0509178 . . . . . . . . 0.0609 Name\x3d99.138922 1 +6 76595634 MYO6 C A 33 0.1252 0.1481 . . . . . . . . . intronic . 0.0258664 . . . . . . . . . Name\x3d96.128717 1 +6 76596728 MYO6 C T 71 0.147764 0.3233 . MedGen:CN169374 not_specified Benign . . . 0.3198 . intronic . 0.251691 . . . . . . . . 0.3349 . 2 +6 76599787 MYO6 C T 1 0.000399361 0.0001 3.313 MedGen:CN239435|MedGen:CN239439 Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Uncertain_significance . . . 3.689e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . 0.0001 Name\x3d99.077154 8 +6 76607983 MYO6 T A 84 0.348842 0.3908 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +6 76608251 MYO6 T C 1 0.00139776 0.0013 . . . . . . . . . intronic . 0.0002717 . . . . . . . . . Name\x3d97.332260 3 +6 76617511 MYO6 A ATGTGTGTG 53 0.138778 0.3128 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1603746|N/A|FOXA1|PAZAR . . . . . . . 1 +6 76618299 MYO6 A G 1 0.000199681 6.482e-05 2.531 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . 0.0001 Name\x3d99.596500 6.5 +6 76624538 MYO6 G A 5 0.00559105 0.0091 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0094953 D . . . D D . . 0.0130 Name\x3d99.624047 7 +6 76624741 MYO6 C T 71 0.146965 0.3223 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . Name\x3dMIMAT0000430|hsa-miR-138-5p|Experimental 0.3597 . UTR3 . 0.249841 . . . . . . . . 0.3343 Name\x3d97.069782 4 +6 112430850 LAMA4 C T 2 0.0463259 . . . . . Name\x3dENSR00001114943|Enhancer . . . . intronic . 0.0107192 . . . . . . . . . Name\x3d98.554391 2 +6 112435264 LAMA4 T G 55 0.240016 0.2617 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241316 . . . . . . . . 0.2706 Name\x3d98.367788 1 +6 112435273 LAMA4 A C 55 0.240016 0.2620 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241323 . . . . . . 0.0001 0.028 0.2716 Name\x3d99.277984 1 +6 112435335 LAMA4 G A 1 0.000599042 . 7.024 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0003687 D . . . D D . . . Name\x3d99.359547 9 +6 112435444 LAMA4 G GAAT 55 0.240815 0.2639 . . . . . . . 0.2655 . intronic . 0.0071603 . . . . . . . . 0.2699 Name\x3d96.804649 1 +6 112435796 LAMA4 G C 56 0.240815 0.2680 . . . . . . . . . intronic . 0.0498441 . . . . . . . . . . 0 +6 112435807 LAMA4 G T 56 0.227236 0.2680 . . . . . . . . . intronic . 0.0493525 . . . . . . . . . Name\x3d95.406150 1 +6 112435912 LAMA4 A T 59 0.281749 0.2854 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2908 synonymous_SNV exonic . 0.268043 . . . . . . . . 0.2894 Name\x3d99.275632 1 +6 112438912 LAMA4 GA G 31 0.229233 0.2038 . . . . . . . 0.1778 . intronic . 0.0059055 . . Name\x3dOREG0743312|N/A|JUNB|JASPAR,OREG0770517|N/A|JUND|JASPAR,OREG0642785|N/A|FOS|JASPAR . . . . . 0.1688 Name\x3d99.088779 2 +6 112439071 LAMA4 G C 1 0.00139776 . 3.989 . . . . . . 3.754e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.581503 3 +6 112440311 LAMA4 C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.923160 5 +6 112440380 LAMA4 T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.306844 5 +6 112440464 LAMA4 G A 2 0.0666933 0.0007 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0013 synonymous_SNV exonic . 0.0197734 . . . . . . . . 0.0020 Name\x3d99.380826 1 +6 112441727 LAMA4 A C 1 0.000199681 . . . . . . . . 2.304e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.469218 5 +6 112451012 LAMA4 A AT 1 0.00579073 0.0033 . . . . . . . . . intronic . 0.0008837 . . . . . . . . . Name\x3d98.847505 3 +6 112457383 LAMA4 G C 55 0.210463 0.2529 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2549 nonsynonymous_SNV exonic . 0.222753 T . . . D T . . 0.2603 Name\x3d99.345281 1 +6 112457390 LAMA4 C T 142 0.839856 0.7201 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7013 nonsynonymous_SNV exonic . 0.713031 T . . . B T . . 0.6965 Name\x3d99.345281 2.5 +6 112457471 LAMA4 G A 142 0.840455 0.7195 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7012 . intronic . 0.725036 . . . . . . . . 0.6959 Name\x3d96.986079 1 +6 112460365 LAMA4 C T 1 0.00359425 0.0136 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0137 nonsynonymous_SNV exonic . 0.0099158 D . . . D D . . 0.0130 Name\x3d99.767722 7 +6 112460511 LAMA4 C T 1 0.00159744 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 . intronic . 0.000608 . . . . . . . . 0.0006 Name\x3d98.702303 3 +6 112460541 LAMA4 G A 60 0.300519 0.2592 . . . . . . . 0.2625 . intronic . 0.255223 . . . . . . . . 0.27 Name\x3d99.040131 2 +6 112461135 LAMA4 C T 1 0.000798722 0.0019 . . . . . . . 0.0020 . intronic . 0.0016235 . . . . . . . . 0.0023 . 2 +6 112463253 LAMA4 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.913721 5 +6 112463419 LAMA4 C T 1 0.000199681 0.0001 1.299 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 T . . . B T . . 0.0002 Name\x3d99.626879 6.5 +6 112463545 LAMA4 G A 1 0.000798722 0.0005 . . . . . . . 0.0004 . intronic . 0.0003816 . . . . . . . . 0.0001 . 2 +6 112466086 LAMA4 C T 1 0.000798722 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 1.842e-05 synonymous_SNV exonic . 0.0002199 . . . . . . . . . Name\x3d99.265517 3 +6 112469480 LAMA4 C T 1 0.000199681 0.0002 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign . . . 9.204e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . . Name\x3d99.514261 5 +6 112471688 LAMA4 G C 64 0.3127 0.2636 . . . . . . . 0.2703 . intronic . 0.266303 . . Name\x3dOREG1790553|N/A|RBL2|PAZAR . . . . . 0.2797 Name\x3d99.042535 3 +6 112476210 LAMA4 T C 63 0.3127 0.2644 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.535879 2 +6 112480041 LAMA4 A G 22 0.091254 0.1284 . MedGen:CN169374 not_specified Benign . . . 0.0979 synonymous_SNV exonic . 0.100413 . . . . . . . . 0.0881 Name\x3d99.214315 1 +6 112486397 LAMA4 G A 2 0.000798722 0.0030 4.719 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0022 nonsynonymous_SNV exonic . 0.0015782 T . . . D T . . 0.0023 Name\x3d98.968811 3 +6 112493774 LAMA4 C T 2 0.00139776 0.0040 . . . . . . . 0.0040 . intronic . 0.0029301 . . . . . . . . 0.0053 . 2 +6 112493790 LAMA4 T C 2 0.000399361 0.0007 . . . . . . . 0.0008 . intronic . 0.0003752 . . . . . . . . 0.0007 Name\x3d97.068222 3 +6 112493872 LAMA4 A G 140 0.758387 0.6042 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign Name\x3dENSR00000802030|Enhancer . . 0.5987 nonsynonymous_SNV exonic . 0.657656 T . . . B T . . 0.6020 Name\x3d99.462924 3.5 +6 112496511 LAMA4 C A 6 0.08127 0.0108 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0155 . intronic . 0.0308728 . . . . . . . 0.002 0.0110 Name\x3d99.590685 1 +6 112496690 LAMA4 G C 2 0.0315495 0.0005 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0005 . intronic . 0.009353 . . . . . . 0.0035 0.076 0.0005 Name\x3d99.698308 1 +6 112499245 LAMA4 G A 2 0.0329473 0.0005 . . . . . . . . . intronic . 0.011065 . . . . . . . . . Name\x3d98.891877 1 +6 112506375 LAMA4 G A 111 0.416933 0.4530 . . . . . . . . . intronic . 0.0901023 . . . . . . . . . Name\x3d98.726170 1 +6 112506583 LAMA4 G T 168 0.900559 0.7044 . . . . . . . 0.7126 . intronic . 0.769654 . . . . . . . . 0.7115 . 0 +6 112508745 LAMA4 G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.0005 Name\x3d99.039803 3 +6 112508769 LAMA4 T G 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 synonymous_SNV exonic . 0.911056 . . . . . . . . . Name\x3d99.206740 1 +6 112508770 LAMA4 G T 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 nonsynonymous_SNV exonic . 0.91046 . . . . . . . . . Name\x3d99.206740 2.5 +6 112512905 LAMA4 G A 28 0.316893 0.1515 . MedGen:CN169374 not_specified Benign . . . 0.1337 synonymous_SNV exonic . 0.191201 . . Name\x3dOREG1309126|N/A|CEBPA|PAZAR . . . . . 0.1219 Name\x3d99.475759 2 +6 112522852 LAMA4 G A 14 0.0309505 0.0645 7.272 MedGen:CN169374 not_specified Benign . . . 0.0603 nonsynonymous_SNV exonic . 0.0517975 T . . . D D . . 0.0649 Name\x3d99.323231 4 +6 112522893 LAMA4 A C 3 0.0207668 0.0102 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0151 . intronic . 0.012917 . . . . . . 0.0005 0.044 0.0103 Name\x3d98.473566 1 +6 112528149 LAMA4 AAAACA AAAACAAAACAAAACG,A 3 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d96.329973 11 +6 112537497 LAMA4 A G 92 0.489417 0.3344 . . . . . . . . . intronic . 0.0711181 . . . . . . . . . Name\x3d97.880294 1 +6 112537682 LAMA4 A G 9 0.0121805 0.0215 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0260 . intronic . 0.0188613 . . . . . . 0.0091 0.142 0.0195 Name\x3d97.230869 1 +6 112574962 LOC101927640 C T 1 0.000199681 . . . . . Name\x3dENSR00000201313|Promoter . . 1.842e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . Name\x3d99.130178 4 +6 112575203 LAMA4 C T 2 0.000399361 0.0001 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign Name\x3dENSR00000201313|Promoter . . 0.0001 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.836769 6 +6 118880029 PLN C T 1 0.000599042 0.0008 . . . . . . . . . UTR5 . 0.00073 . Name\x3dOREG0070927|N/A|N/A|VistaEnhancers . . . . . . . . 3 +6 121768710 GJA1 G A 4 0.034345 0.0156 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0190166 . . . . . . . . 0.0148 Name\x3d99.946027 -1 +6 121768751 GJA1 C T 4 0.00299521 0.0120 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign . . . 0.0121 nonsynonymous_SNV exonic . 0.0085186 T . . . B T . . 0.0160 Name\x3d99.895947 0.5 +6 121769144 GJA1 T TA 3 0.0579073 0.0520 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified Benign . . Name\x3dMIMAT0000416|hsa-miR-1-3p|Experimental 0.0441 . UTR3 . 0.0028331 . . . . . . . . 0.0471 Name\x3d99.797641 0 +6 123539684 TRDN C T 174 0.761182 0.7906 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0374981 . . . . . . . . . Name\x3d97.644000 -1 +6 123539685 TRDN T C 106 0.465256 0.4554 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0474573 . . . . . . . . . Name\x3d97.644000 -1 +6 123539904 TRDN C T 106 0.375998 0.4524 . MedGen:CN169374 not_specified Benign . . . 0.5017 . intronic . 0.0027361 . . . . . . . . 0.4593 . -2 +6 123542784 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123545159 TRDN GA G 110 0.50639 0.4790 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123580660 TRDN C T 119 0.335264 0.5102 . . . . . . . . . intronic . 0.471608 . . . . . . . . . . -2 +6 123580675 TRDN C T 40 0.319888 0.1894 . . . . . . . . . intronic . 0.218227 . . . . . . . . . . -2 +6 123581843 TRDN T A 1 0.00279553 . . . . . . . . . . intronic . 0.0005379 . . . . . . . . . . 0 +6 123588810 TRDN A G 1 0.00239617 0.0040 . . . . . . . 0.0061 . intronic . 0.0020698 . . . . . . . . 0.0037 . 0 +6 123591138 TRDN T A 40 0.324481 0.1890 . . . . . . . . . intronic . 0.0413578 . . . . . . . . . Name\x3d97.014060 -1 +6 123594217 TRDN G A 5 0.00219649 0.0055 . . . . . . . . . intronic . 0.003381 . . . . . . . . . . 8 +6 123594426 TRDN G A 1 0.00119808 0.0038 . . . . . . . . . intronic . 0.000401 . . . . . . . . . . 0 +6 123594510 TRDN T TA 40 0.262979 0.1884 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2173 . splicing . 0.0025097 . . . . . . . . 0.1584 Name\x3d98.750889 7 +6 123594634 TRDN G T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +6 123595869 TRDN A C 40 0.263179 0.1886 . . . . . . . . . intronic . 0.0054941 . . . . . . . . 0.1708 . -2 +6 123599505 TRDN A C 2 0.00279553 0.0077 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0175 . intronic . 0.0025032 . . . . . . . . 0.0092 Name\x3d98.417645 -1 +6 123600184 TRDN G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0001 Name\x3d99.105353 3 +6 123600356 TRDN T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123653127 TRDN A G 1 0.000798722 0.0053 . . . . . . . . . intronic . 0.0007244 . . . . . . . . 0.0047 . 0 +6 123658671 TRDN T C 58 0.222843 0.3058 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123658680 TRDN A G 104 0.305511 0.4198 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . -2 +6 123658825 TRDN G T 40 0.29373 0.1880 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.2001 . intronic . 0.0758722 . . . . . . 0.0022 0.212 0.1503 Name\x3d98.733696 -1 +6 123673628 TRDN C T 11 0.00898562 0.0474 . . . . . . . 0.0408 . UTR3 . 0.0264874 . . . . . . . . 0.0399 Name\x3d99.804325 -1 +6 123673672 TRDN A AT 1 0.00179712 0.0004 . MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 stoploss exonic . 0.0002652 . . . . . . . . 0.0006 Name\x3d99.832957 9 +6 123687288 TRDN A C 202 0.939297 0.9148 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.9100 nonsynonymous_SNV exonic . 0.0001811 T . . . B T . . 0.9156 Name\x3d99.593905 0.5 +6 123687318 TRDN C T 1 0.000399361 0.0001 2.244 . . . . . . 3.761e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.504067 4.5 +6 123687432 TRDN T C 202 0.954473 0.9147 . . . . . . . . . intronic . 0.177637 . . . . . . . . . Name\x3d99.236441 -1 +6 123696766 TRDN G T 32 0.147364 0.1292 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1469 nonsynonymous_SNV exonic . 0.0677352 T . . . B T . . 0.1188 Name\x3d99.738983 1.5 +6 123698748 TRDN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123699019 TRDN A C 23 0.169129 0.1681 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1874 nonsynonymous_SNV exonic . 0.133937 T . . . B D . . 0.1454 Name\x3d99.591453 0 +6 123699042 TRDN T C 91 0.272165 0.3632 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4458 synonymous_SNV exonic . 0.244874 . . . . . . 0.0023 0.126 0.3635 Name\x3d99.594866 -1 +6 123702499 TRDN G A 64 0.476238 0.3621 . MedGen:CN169374 not_specified Benign . . . 0.3762 . intronic . 0.0020116 . . . . . . . . 0.3270 Name\x3d99.329527 0 +6 123702587 TRDN G A 1 0.00199681 0.0095 . . . . . . . . . intronic . 0.0018057 . . . . . . . . 0.0026 Name\x3d98.331548 1 +6 123702642 TRDN T G 32 0.120807 0.1304 . . . . . . . . . intronic . 0.124635 . . . . . . . . . Name\x3d97.262537 0 +6 123703168 TRDN C T 32 0.120807 0.1298 . . . . . . . . . intronic . 0.123982 . . . . . . . . . . -2 +6 123714764 TRDN C T 13 0.0163738 0.0476 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0916 . intronic . 0.0323023 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . 0.4824 0.506 0.0483 Name\x3d99.795319 0 +6 123714938 TRDN C T 1 0.00399361 . . . . . . . . . . intronic . 0.0013447 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . . . . . 1 +6 123818365 TRDN T C 1 0.000199681 . 0.195 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B D . . . Name\x3d99.874300 3 +6 123833457 TRDN G C 178 0.843251 0.8670 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.8257 nonsynonymous_SNV exonic . 0.793101 T . . . B T . . 0.8615 Name\x3d99.390978 0.5 +6 123837214 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123837416 TRDN G A 2 0.00279553 6.492e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 +6 123851590 TRDN G A 133 0.497804 0.6421 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123851610 TRDN G A 133 0.497404 0.6413 . . . . . . . 0.5937 . intronic . 0.0002458 . . . . . . . . . . -2 +6 123851757 TRDN A C 1 0.000199681 . . . . . . . . 0.0003 . intronic . 1.29e-05 . . . . . . . . . . 2 +6 123868506 TRDN C T 4 0.00279553 0.0138 4.510 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.0102 nonsynonymous_SNV exonic . 0.0042043 T . . . P D . . 0.0099 Name\x3d99.440747 -1 +6 123869607 TRDN G C 114 0.392971 0.5248 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.5689 nonsynonymous_SNV exonic . 0.421152 T . . . B T . . 0.5375 Name\x3d99.257118 0.5 +6 123869615 TRDN G A 1 0.000399361 0.0004 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001035 . . . . . . . . 0.0002 Name\x3d99.293686 3 +6 123869769 TRDN TAA T 123 0.500599 0.5587 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.5416 . intronic . 0.0001423 . . . . . . . . . Name\x3d97.931712,99.435288 -1 +6 123892001 TRDN G A 78 0.495807 0.3950 . . . . . . . . . intronic . 0.0840998 . . . . . . . . . . -2 +6 123892044 TRDN A G 23 0.0467252 0.0785 . . . . . . . 0.0948 . intronic . 0.068285 . . . . . . . . 0.0938 Name\x3d95.413899 -1 +6 123892337 TRDN G A 90 0.24361 0.3335 . . . . . . . . . intronic . 0.0606331 . . . . . . . . . Name\x3d95.708252 -1 +6 123957876 TRDN C T 1 0.000199681 6.49e-05 . . . . Name\x3dENSR00000803992|Promoter . . 9.247e-05 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.261590 4 +6 129371106 LAMA2 C T 40 0.0706869 0.1153 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.1245 synonymous_SNV exonic . 0.0988668 . . . . . . . . 0.1164 Name\x3d99.611828 -1 +6 129381026 LAMA2 C A 208 0.936701 0.9718 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.9708 synonymous_SNV exonic . 0.948435 . . . . . . . . 0.9699 Name\x3d99.531499 -1 +6 129419454 LAMA2 C T 1 0.000399361 6.481e-05 4.755 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 9.201e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . D D . . . Name\x3d99.118695 6 +6 129419609 LAMA2 G A 1 0.00159744 0.0053 . . . . . . . 0.0044 . intronic . 0.0031242 . . . . . . . . 0.0066 Name\x3d98.491023 1 +6 129465020 LAMA2 G A 34 0.247404 0.1892 . MedGen:CN169374 not_specified Benign . . . 0.2016 . intronic . 0.193853 . . . . . . . . 0.1932 Name\x3d97.177285 -1 +6 129468288 LAMA2 A T 34 0.352236 0.1915 . . . . Name\x3dENSR00000804985|Enhancer . . . . intronic . 0.0452129 . . . . . . . . . Name\x3d99.371025 0 +6 129486657 LAMA2 C A 1 0.00219649 0.0092 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . Name\x3d96.748327 1 +6 129486815 LAMA2 G A 1 0.000199681 . 0.655 . . . . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d99.346840 4.5 +6 129511373 LAMA2 T C 4 0.0565096 0.0089 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0136 synonymous_SNV exonic . 0.0302325 . . . . . . . . 0.0112 Name\x3d99.329573 -1 +6 129513850 LAMA2 T A 1 0.00159744 0.0053 5.154 MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0030401 T . . . D D . . 0.0070 Name\x3d99.459134 4 +6 129514008 LAMA2 C T 1 0.000199681 0.0045 . MedGen:CN239326|MedGen:CN517202 Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Uncertain_significance . . . 0.0011 . intronic . 0.0005627 . . . . . . . . 0.0005 Name\x3d98.738623 1 +6 129571330 LAMA2 G A 27 0.270966 0.1374 -0.271 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.1350 nonsynonymous_SNV exonic . 0.177811 T . . . B T . . 0.14 Name\x3d99.000114 0.5 +6 129601231 LAMA2 C T 1 0.00319489 0.0075 5.122 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0066 nonsynonymous_SNV exonic . 0.0048318 T . . . B D . . 0.0064 Name\x3d99.479070 4 +6 129609026 LAMA2 C T 1 0.000199681 . 6.647 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.670692 6 +6 129609237 LAMA2 T C 1 0.0341454 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0104397 . . . . . . . . 0.0008 Name\x3d99.569901 -1 +6 129612765 LAMA2 G T 1 0.0463259 0.0008 2.558 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0008 nonsynonymous_SNV exonic . 0.0136674 T . . . B T . . 0.0010 Name\x3d99.252063 0.5 +6 129612808 LAMA2 A G 48 0.313898 0.2221 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.2248 synonymous_SNV exonic . 0.260501 . . . . . . . . 0.2272 Name\x3d98.828695 -1 +6 129618791 LAMA2 T C 4 0.00359425 0.0154 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0114682 . . . . . . . . 0.0156 Name\x3d95.776306 -1 +6 129618905 LAMA2 G A 1 0.000199681 0.0003 6.101 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . D T . . . Name\x3d99.389640 6 +6 129619059 LAMA2 G A 13 0.182508 0.0770 . MedGen:CN169374 not_specified Benign . . . 0.0835 . intronic . 0.117004 . . . . . . . . 0.0769 . -2 +6 129621840 LAMA2 T A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +6 129622055 LAMA2 A G 111 0.303714 0.4491 . MedGen:CN169374 not_specified Benign . . . 0.4659 . intronic . 0.393805 . . . . . . . . 0.4524 . -2 +6 129633970 LAMA2 TTG T 14 0.170128 0.0771 . MedGen:CN169374 not_specified Benign Name\x3dENSR00001116158|Enhancer . . 0.0828 . intronic . 0.0039715 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.0774 Name\x3d96.404549 1 +6 129634255 LAMA2 G A 20 0.355232 0.1175 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00001116158|Enhancer . . 0.1212 . intronic . 0.205748 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.1241 Name\x3d96.711048 1 +6 129635800 LAMA2 G A 7 0.120008 0.0396 2.722 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0408 nonsynonymous_SNV exonic . 0.066047 T . . . B T 0.0857 0.288 0.0469 Name\x3d99.447159 0.5 +6 129636606 LAMA2 T G 1 0.0081869 0.0054 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity . . . 0.0091 . intronic . 0.0085381 . . . . . . . . 0.005 Name\x3d96.614197 1 +6 129637037 LAMA2 G A 1 0.000199681 . 4.218 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.708442 4.5 +6 129663463 LAMA2 ACTT A 6 0.00579073 0.0147 . MedGen:CN517202 not_provided Uncertain_significance . . . 0.0122 . intronic . 0.0002329 . . . . . . . . 0.0143 Name\x3d96.910643 -1 +6 129670438 LAMA2 T A 1 0.00279553 0.0080 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0084 . intronic . 0.0059249 . . . . . . 0.8827 0.572 0.0098 Name\x3d99.367174 1.5 +6 129670476 LAMA2 C T 1 0.00299521 0.0078 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0082 synonymous_SNV exonic . 0.0056856 . . . . . . . . 0.0095 Name\x3d99.368198 1 +6 129670493 LAMA2 C T 3 0.00279553 0.0027 5.746 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN257926,OMIM:618138|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0052 nonsynonymous_SNV exonic . 0.0032018 T . . . D D . . 0.0044 Name\x3d99.554363 8 +6 129670548 LAMA2 C T 13 0.0970447 0.0545 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|not_specified Benign . . . 0.0639 . intronic . 0.0816872 . . . . . . . . 0.0613 . -2 +6 129674561 LAMA2 TC T 13 0.116813 0.0526 . . . . Name\x3dENSR00001116164|Enhancer . . . . intronic . 0.0188259 . . . . . . . . . Name\x3d99.094876 0 +6 129687396 LAMA2 G A 4 0.0101837 0.0282 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.020362 T . . . B T . . 0.0330 Name\x3d99.820159 0.5 +6 129691132 LAMA2 C G 13 0.0966454 0.0543 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0637 synonymous_SNV exonic . 0.0823793 . . . . . . . . 0.0615 Name\x3d99.647413 -1 +6 129704460 LAMA2 C G 1 0.000399361 6.483e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d99.257030 3 +6 129722389 LAMA2 A G 99 0.544529 0.4537 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.4667 synonymous_SNV exonic . 0.489541 . . . . . . . . 0.4653 Name\x3d99.315909 -1 +6 129722425 LAMA2 G A 99 0.543331 0.4510 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.4642 synonymous_SNV exonic . 0.487141 . . . . . . . . 0.4641 Name\x3d99.426074 -1 +6 129722453 LAMA2 C A 1 0.00499201 0.0160 2.879 Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0171 nonsynonymous_SNV exonic . 0.0113582 T . . . B T . . 0.0171 Name\x3d99.446649 0.5 +6 129722481 LAMA2 T G 1 0.000199681 0.0002 3.035 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P D . . 0.0005 Name\x3d99.459482 1 +6 129724942 LAMA2 T A 96 0.539936 0.4418 . MedGen:CN169374 not_specified Benign . . . 0.4540 . intronic . 0.418009 . . . . . . . . 0.1772 Name\x3d97.015877 -1 +6 129724944 LAMA2 C T 96 0.540735 0.4418 . . . . . . . 0.4542 . intronic . 0.417866 . . . . . . . . 0.0005 Name\x3d97.015877 -1 +6 129724945 LAMA2 T G 96 0.540735 0.4417 . . . . . . . 0.4541 . intronic . 0.417866 . . . . . . . . 0.0049 Name\x3d97.015877 -1 +6 129748836 LAMA2 G A 3 0.00359425 0.0100 . . . . . . . . . intronic . 0.0014359 . . . . . . . . . . 4 +6 129749070 LAMA2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.839996 3 +6 129759802 LAMA2 C A 1 0.000199681 . 0.259 . . . . . . 5.545e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.364494 4.5 +6 129762036 LAMA2 A G 3 0.00119808 0.0010 -0.014 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.0008279 T . . . B T . . 0.0014 Name\x3d99.488683 6.5 +6 129762062 LAMA2 G A 1 0.000399361 . 2.360 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.541478 4.5 +6 129762112 LAMA2 G A 30 0.182508 0.1696 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.1516 synonymous_SNV exonic . 0.1658 . . . . . . . . 0.1457 Name\x3d99.406276 -1 +6 129763248 LAMA2 G T 1 0.000199681 6.491e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 129774077 LAMA2 C T 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.863054 3 +6 129775470 LAMA2 T C 28 0.172324 0.1348 . MedGen:CN169374 not_specified Benign . . . 0.1458 . intronic . 0.142049 . . . . . . . . 0.1206 Name\x3d99.001769 -1 +6 129781525 LAMA2 A T 3 0.00658946 0.0155 . . . . Name\x3dENSR00000805051|Enhancer . . . . intronic . 0.002044 . . . . . . . . . Name\x3d97.174418 0 +6 129785391 LAMA2 T C 123 0.660942 0.5723 . MedGen:CN169374 not_specified Benign . . . 0.5780 . intronic . 0.596532 . . . . . . . . 0.5763 . -2 +6 129796620 LAMA2 C T 97 0.408347 0.3865 . . . . Name\x3dENSR00000805056|Enhancer . . . . intronic . 0.0780326 . . . . . . . . 0.4104 Name\x3d99.104293 0 +6 129807629 LAMA2 C T 160 0.583866 0.7162 7.378 MedGen:CN169374 not_specified Benign Name\x3dENSR00000805058|Enhancer . . 0.7133 nonsynonymous_SNV exonic . 0.664092 D . Name\x3dOREG0456106|N/A|CEBPB|JASPAR . D T . . 0.7265 Name\x3d99.660625 4 +6 129807697 LAMA2 G A 1 0.000199681 . 5.529 . . . Name\x3dENSR00000805058|Enhancer . . 3.684e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . 0.0001 Name\x3d99.569754 7 +6 129807699 LAMA2 G C 160 0.584265 0.7163 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00000805058|Enhancer . . 0.7134 synonymous_SNV exonic . 0.665295 . . . . . . . . 0.7266 Name\x3d99.569754 0 +6 129807714 LAMA2 G A 46 0.403754 0.2601 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00000805058|Enhancer . . 0.2617 synonymous_SNV exonic . 0.302066 . . . . . . . . 0.2488 Name\x3d99.554154 0 +6 129813043 LAMA2 C T 1 0.000199681 . . . . . . . . 4.557e-05 . intronic . 3.88e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . 0.0028 0.176 . Name\x3d99.338910 4 +6 129813053 LAMA2 A G 10 0.111621 0.0675 2.164 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0787 nonsynonymous_SNV exonic . 0.0845849 T . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . B D . . 0.0630 Name\x3d99.300311 0 +6 129813175 LAMA2 T C 1 0.0185703 0.0123 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0138 synonymous_SNV exonic . 0.0131628 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0130 Name\x3d99.421703 0 +6 129813288 LAMA2 A G 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.370312 4 +6 129813429 LAMA2 T TA 5 0.0129792 0.0264 . . . . . . . 0.0207 . intronic . 0.0007762 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0208 Name\x3d95.737858 0 +6 129813697 LAMA2 G C 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.062581 4 +6 129823857 LAMA2 C T 1 0.000199681 0.0003 . MedGen:CN117977 Laminin_alpha_2-related_dystrophy Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0002135 . . Name\x3dOREG1269126|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.688857 4 +6 129826335 LAMA2 T C 1 0.00359425 0.0121 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0135 . intronic . 0.0090167 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . 0.0004 0.018 0.0127 Name\x3d98.454078 0 +6 129826383 LAMA2 T C 1 0.000798722 0.0005 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0006598 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0006 Name\x3d99.487326 2 +6 129826488 LAMA2 A G 1 0.0179712 0.0001 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0047089 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.636526 0 +6 129835530 LAMA2 G C 1 0.000399361 0.0001 3.224 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001164 T . . . D D . . 0.0001 Name\x3d99.675911 6 +6 129835690 LAMA2 C A 1 0.000199681 0.0003 2.437 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001294 T . . . D T . . 0.0001 Name\x3d99.494444 3 +6 129837320 LAMA2 C A 7 0.0091853 0.0333 . MedGen:CN169374 not_specified Benign . . . 0.0351 . intronic . 0.0241135 . . . . . . . . 0.0415 Name\x3d96.508025 -1 +6 129837549 LAMA2 A C 1 0.0509185 0.0048 . MedGen:CN239326 Congenital_Muscular_Dystrophy,_LAMA2-related Likely_benign . . . . . UTR3 . 0.0034346 . . . . . . . . . Name\x3d98.609228 -1 +6 133596051 EYA4 A G 1 0.000599042 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d98.960786 3 +6 133703698 EYA4 T C 3 0.0922524 0.0015 . . . . . . . . . intronic . 0.0045342 . . . . . . . . . Name\x3d98.594508 1 +6 133777690 EYA4 G A 2 0.000399361 6.482e-05 . . . . Name\x3dENSR00000805937|Enhancer . Name\x3dMIMAT0004490|hsa-miR-19a-5p|Experimental 5.521e-05 . intronic . 5.17e-05 . . . . . . . . . Name\x3d99.875193 7 +6 133777842 EYA4 C G 1 0.000199681 . . . . . Name\x3dENSR00000805937|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d99.147019 6 +6 133782375 EYA4 T A 10 0.201278 0.0598 . . . . . . . . . intronic . 0.0211705 . . . . . . . . 0.0669 Name\x3d96.534516 1 +6 133789728 EYA4 G A 73 0.409545 0.3118 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign . . . 0.3193 nonsynonymous_SNV exonic . 0.339142 T . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D T . . 0.3128 Name\x3d99.952146 5 +6 133789737 EYA4 C A 1 0.000199681 . 6.665 . . . . . . 9.213e-05 nonsynonymous_SNV exonic . 3.88e-05 D . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D D . . 0.0001 Name\x3d99.942966 12 +6 133802542 EYA4 G A 23 0.0283546 0.0793 . . . . . . . . . intronic . 0.0134022 . . . . . . . . . Name\x3d99.702670 1 +6 133802711 EYA4 T C 1 0.000199681 . 4.879 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d99.950244 8 +6 133827354 TARID A G 136 0.722244 0.5630 . . . . . . . 0.5657 . ncRNA_exonic . 0.610561 . . . . . . . . 0.5607 Name\x3d98.146255 -1 +6 133833915 EYA4 A G 1 0.000199681 0.0003 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Uncertain_significance . . . 3.68e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . 0.0009 0.006 0.0001 Name\x3d99.959727 5 +6 133836430 TARID G A 6 0.00539137 0.0146 . . . . . . . 0.0161 . ncRNA_intronic . 0.0122961 . . . . . . . . 0.0164 Name\x3d95.295710 -1 +6 133844137 TARID C A 28 0.154752 0.1414 . . . . . . . . . ncRNA_intronic . 0.0290553 . . . . . . . . . Name\x3d98.454046 1 +6 133844339 TARID G C 1 0.0373403 0.0006 . . . . . . . 0.0004 . ncRNA_intronic . 0.0114099 . . . . . . . . 0.0012 Name\x3d99.220735 -1 +6 133849789 TARID A G 129 0.770367 0.5461 . . . . . . . . . ncRNA_intronic rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163 0.117159 . . . . . . . . . Name\x3d97.737781 -1 +6 133849868 EYA4 C T 4 0.0081869 0.0108 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0146 synonymous_SNV exonic . 0.0116751 . . . . . . . . 0.0128 Name\x3d99.960392 1 +6 133849966 TARID C T 95 0.471046 0.3949 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign . . . 0.3749 . ncRNA_intronic . 0.0021022 . . . . . . . . 0.3865 Name\x3d99.895395 -1 +6 152443744 SYNE1 G T 25 0.076877 0.1616 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.1532 nonsynonymous_SNV exonic . 0.117728 T . . . D D . . 0.1398 Name\x3d99.824604 4 +6 152443761 SYNE1 C T 6 0.0648962 0.0444 1.625 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0392 nonsynonymous_SNV exonic . 0.0480007 T . . . B T . . 0.0335 Name\x3d99.664822 2.5 +6 152453291 SYNE1 G A 15 0.0257588 0.0775 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0732 nonsynonymous_SNV exonic . 0.0534857 T . . . B T . . 0.0745 Name\x3d99.069594 2.5 +6 152456437 SYNE1 A C 1 0.00119808 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 +6 152456438 SYNE1 A C 2 0.00599042 0.0136 . . . . . . . . . intronic . 0.0026326 . . . . . . . . . . 0 +6 152457897 SYNE1 G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . 3.683e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.383771 5 +6 152461061 SYNE1 G A 99 0.444489 0.3635 . MedGen:CN169374 not_specified Benign . . . 0.3698 . intronic . 0.392032 . . . . . . . . 0.3941 Name\x3d99.006134 1 +6 152461162 SYNE1 C T 1 0.000798722 0.0006 4.590 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0006145 T . . . P T . . 0.0013 Name\x3d99.483013 4.5 +6 152462480 SYNE1 C A 6 0.00559105 0.0059 . MedGen:CN169374 not_specified Benign . . . 0.0092 . intronic . 0.0074061 . . . . . . . . 0.0097 Name\x3d97.234411 11 +6 152462524 SYNE1 C T 1 0.0303514 0.0001 . . . . . . . . . intronic . 0.0083372 . . . . . . . . . . 0 +6 152464839 SYNE1 A G 123 0.689696 0.5460 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5468 synonymous_SNV exonic . 0.602735 . . . . . . . . 0.5564 Name\x3d99.051753 1 +6 152466578 SYNE1 A C 2 0.0567093 0.0087 . MedGen:CN169374 not_specified Likely_benign . . . 0.0064 . intronic . 0.0285766 . . . . . . . . 0.0051 Name\x3d98.368461 1 +6 152466582 SYNE1 A G 79 0.381589 0.3173 . MedGen:CN169374 not_specified Benign . . . 0.3207 . intronic . 0.0015459 . . . . . . . . 0.3359 Name\x3d98.298421 1 +6 152466674 SYNE1 T C 79 0.366214 0.3136 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3142 synonymous_SNV exonic . 0.342117 . . . . . . . . 0.3301 Name\x3d99.036820 1 +6 152469188 SYNE1 C G 81 0.399361 0.3186 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3194 nonsynonymous_SNV exonic . 0.355202 T . . . P T . . 0.3373 Name\x3d99.285969 2.5 +6 152469204 SYNE1 G A 2 0.00219649 0.0093 2.924 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000414|hsa-let-7g-5p|Experimental 0.0075 nonsynonymous_SNV exonic . 0.0050646 T . . . P D . . 0.0056 Name\x3d98.885134 4 +6 152469331 SYNE1 C T 66 0.339457 0.2805 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2729 synonymous_SNV exonic . 0.309795 . . . . . . . . 0.2944 Name\x3d99.461894 1 +6 152469354 SYNE1 C T 1 0.000199681 6.487e-05 6.962 MedGen:CN517202 not_provided Uncertain_significance . . . 5.538e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D D . . . Name\x3d99.622014 8 +6 152469433 SYNE1 G C 1 0.000199681 0.0005 -1.526 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0006598 T . . . B T . . 0.0006 Name\x3d99.429159 4.5 +6 152470752 SYNE1 C A 22 0.115615 0.0438 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0560 nonsynonymous_SNV exonic . 0.0668038 T . . . B T . . 0.0548 Name\x3d99.193134 2.5 +6 152472631 MIR3163 A G 13 0.024361 0.0348 . . . . . . . . . ncRNA_intronic . 0.0068304 . . . . . . . . . Name\x3d97.811193 -1 +6 152472660 MIR3163 T A 14 0.0317492 0.0379 . MedGen:CN169374 not_specified Benign . . . 0.0476 . ncRNA_intronic . 0.0381302 . . . . . . . . 0.0434 Name\x3d96.961588 -1 +6 152473136 SYNE1 G T 1 0.000199681 . 5.447 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d99.725408 8 +6 152473181 SYNE1 T C 14 0.0365415 0.0381 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0477 synonymous_SNV exonic . 0.039799 . . . . . . . . 0.0441 Name\x3d99.283014 1 +6 152476985 MIR3163 T G 5 0.057508 . . . . . . . . . . ncRNA_intronic . 0.011065 . . . . . . . . . . -2 +6 152497500 MIR3163 C T 12 0.0225639 0.0574 . MedGen:CN169374 not_specified Benign . . . 0.0589 . ncRNA_intronic . 0.039896 . . . . . . . . 0.0597 Name\x3d97.696224 -1 +6 152501313 SYNE1 A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.103215 5 +6 152510429 SYNE1 G A 1 0.00119808 0.0016 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0022 synonymous_SNV exonic . 0.0015588 . . . . . . . . 0.0023 Name\x3d98.940664 3 +6 152510573 MIR3163 G A 1 0.0680911 0.0084 . . . . . . . 0.0104 . ncRNA_intronic . 0.0321406 . . . . . . . . 0.0085 . -2 +6 152522926 MIR3163 G A 47 0.134585 0.1764 . MedGen:CN169374 not_specified Benign . . . 0.1720 . ncRNA_intronic . 0.14939 . . . . . . . . 0.1767 Name\x3d98.031737 -1 +6 152523143 MIR3163 G A 141 0.645567 0.5840 . . . . . . . . . ncRNA_intronic . 0.0003842 . . . . . . . . . Name\x3d98.201005 -1 +6 152529122 SYNE1 G A 3 0.00339457 0.0190 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0167 synonymous_SNV exonic . 0.0117851 . . Name\x3dOREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.0177 Name\x3d99.448078 2 +6 152529260 SYNE1 G A 29 0.155152 0.1217 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Benign . . . 0.1319 synonymous_SNV exonic . 0.140451 . . Name\x3dOREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.1341 Name\x3d99.640757 2 +6 152532702 SYNE1 T C 4 0.00459265 0.0143 6.017 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0212 nonsynonymous_SNV exonic . 0.0133439 T . Name\x3dOREG0929036|N/A|MAFK|JASPAR . D T . . 0.0171 Name\x3d99.296241 5 +6 152534768 SYNE1 C T 5 0.0205671 0.0273 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0334 synonymous_SNV exonic . 0.0249609 . . . . . . . . 0.0271 Name\x3d99.136858 1 +6 152534789 SYNE1 T C 6 0.0135783 0.0423 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0358 synonymous_SNV exonic . 0.0245275 . . . . . . . . 0.0302 Name\x3d99.091516 1 +6 152534946 MIR3163 T A 214 0.997005 0.9893 . . . . . . . 0.9904 . ncRNA_intronic . 0.0099934 . . . . . . . . 0.9890 . -2 +6 152534947 MIR3163 T A 83 0.307508 0.4550 . . . . . . . . . ncRNA_intronic . 0.0625154 . . . . . . . . . . -2 +6 152539350 MIR3163 C G 33 0.279153 0.2272 . MedGen:CN169374 not_specified Benign . . . 0.2197 . ncRNA_intronic . 0.244719 . . . . . . . . 0.2219 . -2 +6 152539515 SYNE1 G A 1 0.000599042 0.0009 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0019 Name\x3d98.901909 3 +6 152539572 MIR3163 TA TAA,T 1 0.404952 0.4481 . . . . . . . 0.4534 . ncRNA_intronic . 0.0046183 . . . . . . . . . Name\x3d95.662064 -1 +6 152540230 SYNE1 C T 1 0.000199681 0.0001 3.652 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 9.202e-05 nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR . D T . . 0.0001 Name\x3d98.478390 6 +6 152540278 SYNE1 A C 211 0.995607 0.9889 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.9886 nonsynonymous_SNV exonic . 0.982057 T . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR . B T . . 0.9901 Name\x3d98.536829 3.5 +6 152540357 MIR3163 T C 25 0.0696885 0.0810 . . . . . . . 0.0899 . ncRNA_intronic . 0.0882848 . . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR . . . . . 0.0913 . -1 +6 152542234 MIR3163 G T 62 0.389377 0.3161 . . . . . . . . . ncRNA_intronic . 0.066668 . . . . . . . . . Name\x3d95.176582 -1 +6 152542548 MIR3163 A G 34 0.337859 0.2291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2225 . ncRNA_intronic . 0.271601 . . . . . . . . 0.2248 Name\x3d96.735379 -1 +6 152545600 MIR3163 G A 5 0.00758786 0.0261 . . . . . . . 0.0258 . ncRNA_intronic . 0.0190101 . . . . . . . . 0.0241 Name\x3d95.009272 -1 +6 152545865 MIR3163 T C 43 0.124002 0.1956 . . . . . . . . . ncRNA_intronic . 0.0030352 . . . . . . . . . . -2 +6 152555057 SYNE1 T A 3 0.00978435 0.0255 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0267 synonymous_SNV exonic . 0.0200256 . . . . . . . . 0.0259 Name\x3d99.595730 1 +6 152555112 SYNE1 C T 35 0.208866 0.2308 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2230 . intronic . 0.229318 . . . . . . . . 0.2167 Name\x3d97.236054 1 +6 152555762 SYNE1 C T 1 0.000599042 0.0010 . . . . . . . 0.0009 . intronic . 0.0004981 . . . . . . . . 0.0005 . 2 +6 152557178 SYNE1 G C 1 0.000798722 0.0041 . . . . . . . . . intronic . 0.0004204 . . . . . . . . . . 2 +6 152557220 SYNE1 T C 1 0.00239617 0.0098 . . . . . . . 0.0087 . intronic . 0.0061189 . . . . . . . . 0.0098 Name\x3d96.952310 3 +6 152558111 SYNE1 T TA 35 0.210264 0.2302 . MedGen:CN169374 not_specified Likely_benign . . . 0.2218 . intronic . 0.0070568 . . . . . . . . 0.2170 Name\x3d96.440658 1 +6 152563312 SYNE1 T C 4 0.00519169 0.0065 . . . . . . . . . intronic . 0.001009 . . . . . . . . . . 6 +6 152565669 SYNE1 C T 2 0.00439297 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0008 . intronic . 0.0038745 . . . . . . . 0.056 0.0007 Name\x3d97.344315 3 +6 152570274 SYNE1 A G 19 0.0607029 0.0688 . . . . . . . 0.0780 . intronic rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462 0.077554 . . . . . . . . 0.0780 Name\x3d97.694021 1 +6 152570415 SYNE1 G A 109 0.680711 0.6467 . MedGen:CN169374 not_specified Benign . . . 0.6227 . intronic . 0.639248 . . . . . . . . 0.6098 Name\x3d97.830414 1 +6 152577752 SYNE1 T C 9 0.0764776 0.0502 . MedGen:CN169374 not_specified Benign . . . 0.0625 . intronic . 0.067677 . . . . . . . . 0.0598 . 0 +6 152589378 SYNE1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.270465 5 +6 152590434 SYNE1 A G 1 0.000798722 0.0023 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Likely_benign . . . 0.0019 . intronic . 0.0012354 . . . . . . . . 0.0015 Name\x3d99.222423 3 +6 152599173 SYNE1 C T 2 0.00439297 0.0075 . . . . Name\x3dENSR00001118515|TF_binding_site Name\x3dTEAD4::MAX|ENSPFM0566|ENSM00205113205|8.40808342725 . 0.0076 . intronic . 0.0062224 . . Name\x3dOREG1711525|N/A|HNF4A|PAZAR,OREG1736173|N/A|HNF4A|PAZAR . . . . . 0.0040 . 5 +6 152603139 SYNE1 T C 11 0.0722843 0.0627 . MedGen:CN169374 not_specified Benign . . . 0.0655 . intronic . 0.0665774 . . . . . . . . 0.0645 . 0 +6 152605242 SYNE1 C T 1 0.000199681 6.483e-05 . . . . . . . 3.681e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.309375 5 +6 152614766 SYNE1 G C 1 0.000199681 . 1.546 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.122377 6.5 +6 152615042 SYNE1 G T 5 0.0473243 0.0558 . . . . . . . . . intronic . 0.0104915 . . . . . . . . . Name\x3d97.819075 1 +6 152615200 SYNE1 G A 41 0.147764 0.1926 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.1971 synonymous_SNV exonic . 0.184098 . . . . . . . . 0.1917 Name\x3d98.860939 1 +6 152621818 SYNE1 G A 2 0.000399361 0.0010 . MedGen:CN517202 not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000205405|Promoter . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0010 Name\x3d99.576573 4 +6 152621955 SYNE1 A G 2 0.00379393 0.0120 . . . . Name\x3dENSR00000205405|Promoter . . 0.0108 . intronic . 0.0072962 . . . . . . . . 0.0126 Name\x3d99.582865 2 +6 152623056 SYNE1 T A 1 0.000199681 . 5.841 . . . Name\x3dENSR00000205405|Promoter . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1224039|N/A|SMARCA4|PAZAR,OREG1172553|N/A|TFAP2C|PAZAR,OREG1798829|N/A|RBL2|PAZAR,OREG1578113|N/A|FOXA1|PAZAR,OREG1780029|N/A|RBL2|PAZAR . P D . . . Name\x3d99.812403 10 +6 152629586 SYNE1 G A 116 0.457468 0.5540 . MedGen:CN169374 not_specified Benign . . . 0.5308 . intronic . 0.497005 . . . . . . . . 0.5247 Name\x3d95.369334 1 +6 152629617 SYNE1 C T 73 0.304313 0.3331 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3230 . intronic . 0.311484 . . . . . . . . 0.3235 Name\x3d98.166992 1 +6 152629631 SYNE1 C T 2 0.038139 0.0077 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0074 nonsynonymous_SNV exonic . 0.0184668 T . . . B T . . 0.0071 Name\x3d99.286541 1 +6 152629772 SYNE1 GAA GAAA,GA,G 2 0.014377 0.0131 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0244 . intronic . 0.0002846 . . . . . . . . . Name\x3d96.828777 1 +6 152629815 SYNE1 C T 178 0.884784 0.8188 . . . . . . . 0.8013 . intronic . 0.816995 . . . . . . . . 0.7880 . 0 +6 152630946 SYNE1 C T 25 0.117612 0.0941 . MedGen:CN169374 not_specified Benign . . . 0.1012 . intronic . 0.119481 . . Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR . . . . . 0.0981 Name\x3d97.219624 2 +6 152631802 SYNE1 C CT 3 0.00678914 0.0101 . . . . . . . 0.0237 . intronic . 0.0004334 . . . . . . . . 0.0168 . 0 +6 152632033 SYNE1 G A 2 0.0443291 0.0317 . MedGen:CN169374 not_specified Benign . . . 0.0290 . intronic . 0.034508 . . . . . . . . 0.0235 . 0 +6 152638192 SYNE1 C T 4 0.00539137 0.0121 . . . . . . . . . intronic . 0.002445 . . . . . . . . . . 0 +6 152639184 SYNE1 C G 8 0.0864617 0.0373 . MedGen:CN169374 not_specified Benign . . . 0.0389 . intronic . 0.0496953 . . . . . . . . 0.0463 Name\x3d96.765294 1 +6 152639350 SYNE1 C T 1 0.000199681 . 6.336 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.530807 8 +6 152640091 SYNE1 C T 1 0.000399361 0.0002 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.000304 . . . . . . . . 0.0006 Name\x3d99.216194 3 +6 152640110 SYNE1 G A 5 0.0463259 0.0338 2.539 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0290 nonsynonymous_SNV exonic . 0.0382789 T . . . B T . . 0.0272 Name\x3d99.569769 2.5 +6 152640160 SYNE1 T A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Likely_benign . . . 3.811e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.206946 5 +6 152642331 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.953323 5 +6 152642795 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 152643070 SYNE1 C T 9 0.0107827 0.0348 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000809932|Enhancer . . 0.0360 . intronic . 0.0249091 . . . . . . . . 0.0409 . 1 +6 152646279 SYNE1 G C 7 0.0623003 0.0337 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0298 synonymous_SNV exonic . 0.042548 . . . . . . . . 0.0280 Name\x3d99.365489 1 +6 152647388 SYNE1 A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 +6 152647681 SYNE1 A T 156 0.814696 0.7755 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7583 nonsynonymous_SNV exonic . 0.771588 T . . . B T . . 0.7494 Name\x3d99.445550 2.5 +6 152650812 SYNE1 G A 6 0.0115815 0.0320 . . . . . . . . . intronic . 0.0041979 . . . . . . . . . Name\x3d97.279766 1 +6 152650903 SYNE1 G A 7 0.033746 0.0375 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0384 synonymous_SNV exonic . 0.0345468 . . . . . . . . 0.0436 Name\x3d99.609000 1 +6 152651521 SYNE1 C T 1 0.000199681 . 4.083 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d99.423402 5 +6 152651759 SYNE1 C G 18 0.165136 0.0644 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0589 synonymous_SNV exonic . 0.0929289 . . . . . . . . 0.0621 Name\x3d99.093406 1 +6 152652034 SYNE1 A T 156 0.803315 0.7747 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7580 nonsynonymous_SNV exonic . 0.768211 T . . . B T . . 0.7490 Name\x3d99.062178 2.5 +6 152652599 SYNE1 G A 7 0.0335463 0.0378 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0386 synonymous_SNV exonic . 0.035006 . . . . . . . . 0.0437 Name\x3d99.671387 1 +6 152653037 SYNE1 T C 93 0.413139 0.4715 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4703 . intronic . 0.454457 . . . . . . 0.0001 0.002 0.4607 Name\x3d97.542474 1 +6 152658062 SYNE1 C G 2 0.0123802 0.0329 6.665 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0369 nonsynonymous_SNV exonic . 0.0265068 T . . . D D . . 0.0326 Name\x3d99.240878 4 +6 152658141 SYNE1 C A 13 0.0876597 0.0687 2.991 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0737 nonsynonymous_SNV exonic . 0.0677546 T . . . B D . . . Name\x3d99.051304 1 +6 152658142 SYNE1 T C 154 0.793131 0.7634 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7482 nonsynonymous_SNV exonic . 0.0054268 T . . . B T . . 0.7194 Name\x3d99.051304 2.5 +6 152658191 SYNE1 T C 155 0.790136 0.7632 . MedGen:CN169374 not_specified Benign . . . 0.7533 . intronic . 0.723891 . . . . . . . . 0.7401 . 0 +6 152658192 SYNE1 G A 1 0.000599042 . . . . . . . . 0.0003 . intronic . 0.0001746 . . . . . . . . . . 2 +6 152658216 SYNE1 A G 82 0.242212 0.4128 . . . . . . . . . intronic . 0.0719008 . . . . . . . . . . 0 +6 152660310 SYNE1 A G 64 0.157149 0.3498 . . . . . . . . . intronic . 0.0587056 . . . . . . . . . . 0 +6 152660451 SYNE1 G A 30 0.0732827 0.1467 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.1417 synonymous_SNV exonic . 0.113368 . . . . . . . . 0.1315 Name\x3d99.141639 1 +6 152665261 SYNE1 C A 129 0.545527 0.6082 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.6025 nonsynonymous_SNV exonic . 0.575245 T . Name\x3dOREG1413721|N/A|E2F1|PAZAR . B T . . 0.6178 Name\x3d98.515273 3.5 +6 152665303 SYNE1 C T 1 0.0269569 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0021 synonymous_SNV exonic . 0.0084152 . . Name\x3dOREG1413721|N/A|E2F1|PAZAR . . . . . 0.0019 Name\x3d99.348241 2 +6 152665374 SYNE1 C A 1 0.00938498 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0020 . intronic . 0.0029495 . . . . . . . 0.004 0.0013 Name\x3d96.552186 3 +6 152668211 SYNE1 A G 5 0.00539137 0.0148 6.385 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0181 nonsynonymous_SNV exonic . 0.0110801 T . . . D D . . 0.0151 Name\x3d99.478054 4 +6 152668215 SYNE1 C T 3 0.00479233 0.0114 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0134 synonymous_SNV exonic . 0.0094565 . . . . . . . . 0.0130 Name\x3d99.478054 1 +6 152668272 SYNE1 C T 3 0.00239617 0.0080 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0074 synonymous_SNV exonic . 0.0053233 . . . . . . . . 0.0080 Name\x3d99.166504 7 +6 152671475 SYNE1 A C 130 0.58746 0.6060 . MedGen:CN169374 not_specified Benign . . . 0.5998 . intronic . 0.578227 . . . . . . 0.7992 0.178 0.6098 Name\x3d99.073976 1.5 +6 152671499 SYNE1 A T 1 0.000998403 0.0047 . . . . . . . 0.0052 . intronic . 0.0032082 . . . . . . . . 0.0043 Name\x3d96.859266 3 +6 152671865 SYNE1 T G 4 0.0543131 0.0184 2.231 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0188 nonsynonymous_SNV exonic . 0.0347667 T . . . B T . . 0.0201 Name\x3d99.118052 2.5 +6 152671919 SYNE1 G GA 130 0.56889 0.6100 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5969 . intronic . 0.0643265 . . . . . . . . . Name\x3d98.955237 1 +6 152671975 SYNE1 A G 130 0.571286 0.6055 . . . . . . . . . intronic . 0.11703 . . . . . . . . . . 0 +6 152673147 SYNE1 G A 130 0.565895 0.6068 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5997 . intronic . 0.576668 . . . . . . . . 0.6134 . 0 +6 152673312 SYNE1 C T 1 0.000399361 0.0015 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0007697 . . . . . . . . 0.0002 Name\x3d99.253947 3 +6 152673519 SYNE1 A C 130 0.567492 0.6059 . MedGen:CN169374 not_specified Benign . . . 0.6000 . intronic . 0.56952 . . . . . . . . 0.6127 . 0 +6 152673543 SYNE1 C CT,CTT 130 0.00838658 0.0010 . . . . . . . . . intronic . 0.0019978 . . . . . . . . . . 10 +6 152674464 SYNE1 C A 1 0.00139776 0.0061 2.840 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0066 nonsynonymous_SNV exonic . 0.0045342 T . . . B T . . 0.0073 Name\x3d99.235883 4.5 +6 152674524 SYNE1 T C 1 0.000399361 0.0026 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0014 Name\x3d99.163144 3 +6 152675854 SYNE1 A G 130 0.568291 0.6059 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5997 synonymous_SNV exonic . 0.579003 . . . . . . . . 0.6133 Name\x3d98.465042 1 +6 152679518 SYNE1 C T 6 0.0071885 0.0128 3.946 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0151 nonsynonymous_SNV exonic . 0.0122702 T . . . B T . . 0.02 Name\x3d99.386715 2.5 +6 152679594 SYNE1 A G 3 0.00459265 0.0132 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0160 synonymous_SNV exonic . 0.0106208 . . . . . . . . 0.0176 Name\x3d99.388364 1 +6 152679729 SYNE1 G A 33 0.143371 0.1696 . . . . . . . . . intronic . 0.027781 . . . . . . . . . Name\x3d95.303013 1 +6 152683278 SYNE1 A G 1 0.00139776 0.0050 . . . . . . . 0.0061 . intronic . 0.0035252 . . . . . . . . 0.0052 . 2 +6 152683413 SYNE1 G T 148 0.659145 0.6764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.6646 synonymous_SNV exonic . 0.652644 . . . . . . . . 0.6806 Name\x3d99.256570 1 +6 152686071 SYNE1 A G 2 0.00199681 0.0054 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0065 synonymous_SNV exonic . 0.0043984 . . . . . . . . 0.0064 Name\x3d99.546312 3 +6 152686090 SYNE1 G T 2 0.00199681 0.0055 2.251 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0065 nonsynonymous_SNV exonic . 0.0043984 T . . . B T . . 0.0064 Name\x3d99.514360 4.5 +6 152688366 SYNE1 G A 1 0.000199681 0.0001 0.385 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.074810 6.5 +6 152688567 SYNE1 C T 192 0.863618 0.9301 . MedGen:CN169374 not_specified Benign . . . 0.9156 . intronic . 0.859213 . . . . . . . . 0.9177 . 0 +6 152690559 SYNE1 G A 103 0.410942 0.5392 . MedGen:CN169374 not_specified Benign . . . 0.5313 . intronic . 0.482219 . . . . . . . . 0.5455 . 0 +6 152694184 SYNE1 T C 103 0.468251 0.5391 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5315 synonymous_SNV exonic . 0.481533 . . . . . . . . 0.5458 Name\x3d99.072521 1 +6 152694190 SYNE1 T C 1 0.000599042 0.0015 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0019 synonymous_SNV exonic . 0.0012613 . . . . . . . . 0.0015 Name\x3d99.072521 3 +6 152697675 SYNE1 G T 2 0.00678914 0.0135 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0141 synonymous_SNV exonic . 0.0126518 . . . . . . . . 0.0121 Name\x3d99.456772 1 +6 152697706 SYNE1 C T 111 0.529153 0.4688 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4751 . intronic . 0.49196 . . . . . . . . 0.4606 Name\x3d97.825978 1 +6 152702434 SYNE1 C T 1 0.000199681 6.481e-05 2.351 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance Name\x3dENSR00000205414|Promoter . Name\x3dMIMAT0004591|hsa-miR-124-5p|Experimental 3.686e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1792781|N/A|RBL2|PAZAR,OREG1798830|N/A|RBL2|PAZAR,OREG1852140|N/A|RB1|PAZAR,OREG1780031|N/A|RBL2|PAZAR,OREG1814453|N/A|RBL2|PAZAR . B T . . . Name\x3d99.610273 9.5 +6 152708310 SYNE1 G A 62 0.249002 0.2150 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2236 nonsynonymous_SNV exonic . 0.232397 T . . . B D . . 0.2190 Name\x3d98.966637 1 +6 152708366 SYNE1 G C 1 0.000199681 . . . . . . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.010708 5 +6 152708472 SYNE1 C T 1 0.000199681 . 1.040 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d98.829875 6.5 +6 152711395 SYNE1 T A 91 0.561901 0.3805 . MedGen:CN169374 not_specified Benign . . . 0.3865 . intronic . 0.432394 . . . . . . . . 0.3801 Name\x3d97.943011 1 +6 152711422 SYNE1 C T 1 0.000199681 . 4.088 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.168299 5 +6 152711428 SYNE1 C T 1 0.00319489 0.0111 -0.289 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0092 nonsynonymous_SNV exonic . 0.0062224 T . . . B T . . 0.0098 Name\x3d99.168299 2.5 +6 152712440 SYNE1 G T 3 0.00159744 0.0031 0.895 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0025549 T . . . P T . . 0.0035 Name\x3d99.262168 8.5 +6 152712714 SYNE1 G A 32 0.169728 0.0007 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0011 . intronic . 0.0057697 . . . . . . . . . Name\x3d95.786451 1 +6 152712715 SYNE1 G A 32 0.169728 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . . . intronic . 0.0057891 . . . . . . . . . Name\x3d95.786451 1 +6 152712730 SYNE1 G A 70 0.406949 0.0174 . . . . . . . 0.0047 . intronic . 0.0150192 . . . . . . . . . . 0 +6 152712752 SYNE1 C T 91 0.558706 0.3754 . MedGen:CN169374 not_specified Benign . . . 0.2410 . intronic . 0.263897 . . . . . . . . 0.2696 Name\x3d95.937609 1 +6 152717896 SYNE1 T C 8 0.014377 0.0338 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0360 . intronic . 0.0276452 . . . . . . . . 0.0336 Name\x3d97.136500 1 +6 152718008 SYNE1 T C 1 0.000199681 0.0006 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0006 Name\x3d99.451756 3 +6 152719792 SYNE1 C A 1 0.000199681 . 6.234 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.358161 8 +6 152722228 SYNE1 A G 91 0.519768 0.3804 . MedGen:CN169374 not_specified Benign . . . 0.3878 . intronic . 0.41601 . . . . . . . . 0.3803 . 0 +6 152725470 SYNE1 TAACTA T 1 0.071885 0.0067 . . . . . . . 0.0072 . intronic . 0.0010996 . . . . . . . . 0.0035 Name\x3d98.360903 1 +6 152728281 SYNE1 G A 1 0.000199681 . . . . . . . . 5.523e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.110740 5 +6 152730221 SYNE1 G A 1 0.000199681 . . . . . . . . 5.522e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.302069 5 +6 152730736 SYNE1 A G 2 0.000998403 0.0017 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Likely_benign . . . 0.0025 synonymous_SNV exonic . 0.0014101 . . . . . . . . 0.0026 Name\x3d99.015202 3 +6 152737559 SYNE1 G A 1 0.000199681 . 7.182 . . . . . . 1.84e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d98.882234 13 +6 152740681 SYNE1 T TA 52 0.35024 0.2129 . . . . . . . 0.3375 . intronic . 0.00011 . . . . . . . . 0.2008 Name\x3d96.331563 1 +6 152746593 SYNE1 A T 20 0.0327476 0.0619 -0.505 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0546 nonsynonymous_SNV exonic . 0.0433436 T . . . B T . . 0.0516 Name\x3d99.236413 2.5 +6 152749373 SYNE1 G A 1 0.000199681 . 1.031 MedGen:CN517202 not_provided Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.579704 6.5 +6 152749380 SYNE1 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.579704 5 +6 152749494 SYNE1 C T 1 0.000599042 0.0016 -0.742 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0008667 T . . . B T . . 0.0016 Name\x3d98.734166 4.5 +6 152749540 SYNE1 C T 1 0.00239617 0.0095 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0078 . intronic . 0.0051875 . . . . . . . . 0.0083 Name\x3d97.816710 3 +6 152751286 SYNE1 A T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d98.979088 5 +6 152751300 SYNE1 T C 1 0.000199681 6.489e-05 0.241 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 Name\x3d98.967288 6.5 +6 152751367 SYNE1 A C 1 0.000199681 0.0042 . . . . . . . 0.0021 . intronic . 0.0008603 . . . . . . . . 0.0010 Name\x3d98.327224 3 +6 152751398 SYNE1 CA C 5 0.028754 0.0299 . . . . . . . . . intronic . 0.0016429 . . . . . . . . . Name\x3d97.496761 1 +6 152751426 SYNE1 A C 60 0.252196 0.2179 . . . . . . . . . intronic . 0.0439322 . . . . . . . . . . 0 +6 152751558 SYNE1 C T 102 0.595847 0.4123 . . . . . . . . . intronic . 0.0859303 . . . . . . . . . . 0 +6 152757122 SYNE1 A T 1 0.000199681 . 2.694 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.615424 8 +6 152757224 SYNE1 G A 3 0.00239617 0.0041 6.572 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Likely_benign . . . 0.0041 nonsynonymous_SNV exonic . 0.0030401 D . . . D D . . 0.0057 Name\x3d99.698299 13 +6 152763191 SYNE1 C T 1 0.00219649 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0012 . intronic . 0.0011707 . . . . . . . . 0.0008 Name\x3d97.255133 3 +6 152763258 SYNE1 T C 8 0.0127796 0.0274 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0227 synonymous_SNV exonic . 0.0181304 . . . . . . . . 0.0184 Name\x3d99.355319 1 +6 152763413 SYNE1 T C 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.660919 5 +6 152765579 SYNE1 C T 4 0.00678914 0.0127 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0136 synonymous_SNV exonic . 0.0093595 . . . . . . . . 0.0124 Name\x3d99.509282 1 +6 152768796 SYNE1 T G 108 0.597644 0.4303 . MedGen:CN169374 not_specified Benign . . . 0.4377 . intronic . 0.469806 . . . . . . . . 0.4338 Name\x3d97.892480 1 +6 152770645 SYNE1 G A 14 0.0185703 0.0394 . . . . . . . 0.0362 . intronic . 0.0277163 . . . . . . . . 0.0345 . 0 +6 152771749 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +6 152771789 SYNE1 G T 1 0.000199681 . 4.036 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.645753 6.5 +6 152771849 SYNE1 G A 26 0.048722 0.0729 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0681 synonymous_SNV exonic . 0.0556655 . . Name\x3dOREG0232952|N/A|USF1|JASPAR . . . . . 0.0680 Name\x3d98.977898 2 +6 152772239 SYNE1 A C 1 0.000199681 . -0.914 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.392797 6.5 +6 152772264 SYNE1 A G 108 0.607228 0.4214 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4304 nonsynonymous_SNV exonic . 0.471094 D . . . B D . . 0.4295 Name\x3d99.091145 4 +6 152774695 SYNE1 G A 1 0.000199681 6.48e-05 0.117 . . . . . . 5.522e-05 . intronic . 3.23e-05 T . . . B D . . 0.0001 Name\x3d97.578758 5 +6 152774917 SYNE1 A G 108 0.607428 0.4223 . . . . . . . . . intronic . 0.0880648 . . . . . . . . . Name\x3d95.619559 1 +6 152776540 SYNE1 T C 6 0.0061901 0.0095 . . . . . . . 0.0144 . intronic . 0.0106144 . . . . . . . . 0.0134 . 0 +6 152776750 SYNE1 G A 53 0.301518 0.2293 . MedGen:CN169374 not_specified Benign . . . 0.2419 . intronic . 0.252604 . . . . . . . . 0.2298 Name\x3d98.244524 1 +6 152777095 SYNE1 A C 26 0.0433307 0.0733 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0682 nonsynonymous_SNV exonic . 0.0554068 T . . . B T . . 0.0679 Name\x3d99.151559 2.5 +6 152777200 SYNE1 A G 2 0.00339457 0.0076 . . . . . . . 0.0091 . intronic . 0.0067528 . . . . . . . . 0.0070 Name\x3d96.337826 3 +6 152777236 SYNE1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.539355 5 +6 152779932 SYNE1 C T 1 0.000399361 6.483e-05 1.805 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.639193 6.5 +6 152779933 SYNE1 G A 8 0.0115815 0.0317 4.640 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0333 nonsynonymous_SNV exonic . 0.0252325 T . . . P D . . 0.0312 Name\x3d99.639193 1 +6 152782933 SYNE1 G A 108 0.602436 0.4223 . . . . . Name\x3dTEAD4::ELF1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::ELK1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::SPIB|ENSPFM0506|ENSM00205796216|11.7642286588 . . . intronic . 0.0886793 . . . . . . . . . Name\x3d98.934202 2 +6 152784054 SYNE1 G A 29 0.248802 0.1171 . MedGen:CN169374 not_specified Likely_benign . . . 0.1198 . intronic . 0.156751 . . . . . . . . 0.1307 Name\x3d98.134640 1 +6 152784075 SYNE1 C T 29 0.248802 0.1170 . MedGen:CN169374 not_specified Likely_benign . . . 0.1197 . intronic . 0.156583 . . . . . . . . 0.1305 Name\x3d96.081320 1 +6 152784621 SYNE1 T C 1 0.00399361 0.0089 4.526 . . . . . . 0.0086 nonsynonymous_SNV exonic . 0.0062224 T . . . D T . . 0.0080 Name\x3d99.438642 3 +6 152787026 SYNE1 G A 2 0.00119808 0.0019 . . . . . . . . . intronic . 0.0005821 . . . . . . . . . . 2 +6 152793375 SYNE1 TA T 25 0.195487 0.1103 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0216306 . . . . . . . . . Name\x3d98.279753 2 +6 152793412 SYNE1 C A 168 0.855232 0.7072 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.7185 . intronic rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744 0.743684 . . . . . . . . 0.7044 Name\x3d98.411950 2 +6 152793572 SYNE1 T A 82 0.483427 0.3382 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.3395 . intronic . 0.0222377 . . . . . . . . 0.0162 Name\x3d99.277318 2 +6 152793575 SYNE1 A G 108 0.602236 0.4149 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.4261 . intronic . 0.452219 . . . . . . . . 0.1459 Name\x3d99.277318 2 +6 152793628 SYNE1 C T 14 0.028754 0.0394 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0056726 . . . . . . . . . Name\x3d99.277837 2 +6 152806014 SYNE1 C T 2 0.00199681 0.0008 6.660 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0014 nonsynonymous_SNV exonic . 0.0013583 D . . . D D . . 0.0010 Name\x3d99.568680 9 +6 152809527 SYNE1 A T 108 0.589257 0.4266 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4377 . intronic . 0.465628 . . . . . . . 0.028 0.4328 Name\x3d98.927068 1 +6 152809540 SYNE1 A G 1 0.000199681 0.0012 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0010 Name\x3d99.211953 3 +6 152809699 SYNE1 A C 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.628973 5 +6 152826456 SYNE1 T C 1 0.000199681 . 3.348 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.392559 5 +6 152831295 SYNE1 G A 1 0.000199681 0.0001 . . . . . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.881290 5 +6 152832851 SYNE1 T C 1 0.00279553 0.0115 . . . . . . . . . intronic . 0.0015524 . . . . . . . . . Name\x3d98.308234 1 +6 152847284 SYNE1 A G 1 0.00279553 0.0115 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0124 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0114 Name\x3d99.280894 1 +6 152847335 SYNE1 G A 74 0.264177 0.3310 . MedGen:CN169374 not_specified Benign . . . 0.3238 . intronic . 0.288366 . . . . . . . . 0.3233 . 0 +7 35271037 TBX20 C T 2 0.00339457 0.0077 . . . . Name\x3dENSR00001123772|TF_binding_site . . . . intronic . 0.0013519 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.923844 3 +7 35271254 TBX20 T C 45 0.0888578 0.1493 . . . . . . . . . intronic . 0.0265132 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . 0.1782 Name\x3d99.624939 0 +7 35280480 TBX20 T C 1 0.000199681 . . . . . . . . 1.861e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.198201 3 +7 35280539 TBX20 G T 1 0.0305511 0.0008 . MedGen:CN230736 Cardiovascular_phenotype Benign . . . 0.0005 synonymous_SNV exonic . 0.0093789 . . . . . . . . 0.0006 Name\x3d99.941169 -1 +7 35280693 TBX20 C T 85 0.34365 0.3900 . . . . . . . 0.3820 . intronic . 0.371004 . . . . . . . . 0.3906 Name\x3d99.732609 1 +7 35288276 TBX20 T C 85 0.34365 0.3898 . . . . . . . 0.3810 . intronic . 0.378514 . . Name\x3dOREG1893137|N/A|STAT1|PAZAR . . . . . 0.3907 Name\x3d98.448200 2 +7 35293158 TBX20 G C 1 0.000199681 . 6.806 . . . Name\x3dENSR00000821757|Promoter . . 1.901e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.961275 7 +7 35293193 TBX20 A G 154 0.69389 0.6737 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign Name\x3dENSR00000821757|Promoter . . 0.6793 synonymous_SNV exonic . 0.674991 . . . . . . . . 0.6892 Name\x3d99.961100 0 +7 35293222 TBX20 T A 3 0.000599042 0.0003 2.411 . . . Name\x3dENSR00000821757|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T . . 0.0002 Name\x3d99.962050 7.5 +7 81579832 CACNA2D1 T TA 21 0.0621006 0.0861 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1015 . intronic . 0.0018111 . . . . . . . . 0.0808 . -2 +7 81588636 CACNA2D1 G A 64 0.222644 0.3060 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3051 synonymous_SNV exonic . 0.282655 . . . . . . . . 0.3153 Name\x3d98.944438 -1 +7 81588738 CACNA2D1 G A 1 0.00139776 0.0003 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 +7 81591114 CACNA2D1 GTAATGATTATAACAGTATATACAATTTCT G 145 0.698682 0.6894 . . . . . . . . . intronic . 0.0422622 . . . . . . . . . . -2 +7 81591409 CACNA2D1 G A 8 0.00778754 0.0228 . . . . . . . . . intronic . 0.0038486 . . . . . . . . . . -2 +7 81591716 CACNA2D1 T G 66 0.230232 0.3046 . . . . . . . 0.3534 . intronic . 0.271678 . . . . . . . . 0.3168 . -2 +7 81591827 CACNA2D1 A T 1 0.000199681 . . . . . . . . 9.198e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +7 81593454 CACNA2D1 G A 56 0.257987 0.1989 . . . . . . . 0.2097 . intronic . 0.217481 . . . . . . . . 0.2076 . -2 +7 81593508 CACNA2D1 G A 1 0.000199681 6.488e-05 . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +7 81594860 CACNA2D1 C T 1 0.000399361 . . . . . . . . 5.557e-05 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.329747 3 +7 81596639 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . . 2 +7 81598129 CACNA2D1 T C 2 0.00858626 0.0142 . . . . . . . . . intronic . 0.0017852 . . . . . . . . . . -2 +7 81599131 CACNA2D1 G A 2 0.000798722 6.523e-05 . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 0 +7 81600168 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 81601231 CACNA2D1 C G 74 0.236422 0.3748 . . . . . . . 0.3720 . intronic . 0.0008344 . . . . . . . . 0.3844 . -2 +7 81603871 CACNA2D1 G GAA 28 0.096845 0.0833 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1174 . intronic . 0.0019922 . . . . . . . . 0.0922 Name\x3d96.591094 -1 +7 81603945 CACNA2D1 AT A 154 0.678514 0.7292 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +7 81612766 CACNA2D1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.126500 3 +7 81634681 CACNA2D1 G T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.103635 3 +7 81634822 CACNA2D1 GA AA,G 1 0.20028 0.0488 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2788 . intronic . 0.0001617 . . . . . . . . . Name\x3d96.838848 -1 +7 81635221 CACNA2D1 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +7 81635245 CACNA2D1 T C 1 0.00399361 0.0051 . . . . . . . . . intronic . 0.0006792 . . . . . . . . . . 0 +7 81641500 CACNA2D1 G A 1 0.00319489 0.0133 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0127 synonymous_SNV exonic . 0.0084863 . . . . . . . . 0.0083 Name\x3d99.363203 -1 +7 81641570 LOC101927356 G GAA,GAAA,GAAAA 1 0.221046 0.2423 . MedGen:CN169374 not_specified Benign . . . 0.1138 . ncRNA_intronic . 0.0020246 . . . . . . . . . Name\x3d96.093890 -1 +7 81641571 LOC101927356 A G 2 0.00159744 0.0002 . MedGen:CN169374 not_specified Likely_benign . . . 0.0645 . ncRNA_intronic . 0.0034605 . . . . . . 0.0001 0.022 . . -2 +7 81642949 LOC101927356 C T 102 0.544728 0.3874 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . . -2 +7 81643813 LOC101927356 T C 3 0.00359425 0.0071 . MedGen:CN169374 not_specified Benign . . . 0.0069 . ncRNA_intronic . 0.0054656 . . . . . . . . 0.0079 . 4 +7 81643836 LOC101927356 A C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 0.0001164 . . . . . . . . . . 2 +7 81667468 CACNA2D1 C T 8 0.019369 0.0621 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0500 synonymous_SNV exonic . 0.0372958 . . . . . . . . 0.0448 Name\x3d98.997462 -1 +7 81667579 CACNA2D1 A G 3 0.00239617 0.0059 . . . . . . . 0.0055 . intronic . 0.0039456 . . . . . . . . 0.0063 Name\x3d96.251529 5 +7 81689726 CACNA2D1 C T 1 0.000199681 . . . . . . . . 1.856e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.457519 3 +7 81693768 CACNA2D1 T C 29 0.091853 0.0763 . . . . . . . . . intronic . 0.0813355 . . . . . . . . . . -2 +7 81695859 CACNA2D1 G A 4 0.0071885 0.0010 . MedGen:CN169374 not_specified Likely_benign . . . 5.72e-05 . intronic . 5.82e-05 . . . . . . . . . . 4 +7 81746295 CACNA2D1 A G 1 0.00279553 0.0083 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . . 0 +7 81765930 CACNA2D1 T G 1 0.000399361 0.0004 . . . . . . . 0.0004 . intronic . 0.0001617 . . . . . . . . 0.0001 Name\x3d96.778474 3 +7 81765996 CACNA2D1 C CA 20 0.125399 0.0816 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1506 . intronic . 0.0001811 . . . . . . . . 0.0985 Name\x3d98.319391 -1 +7 81765997 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 0.0001811 . . . . . . 0.0077 0.164 . Name\x3d98.319391 3 +7 81799966 CACNA2D1 G A 4 0.0139776 0.0219 . . . . . . . 0.0239 . intronic . 0.0190166 . . . . . . . . 0.0274 . -2 +7 81799990 CACNA2D1 T C 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062224 . . . . . . . . 0.0292 Name\x3d95.829055 -1 +7 81799996 CACNA2D1 C G 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062354 . . . . . . . . 0.0289 Name\x3d95.778723 -1 +7 81800028 CACNA2D1 CAGA C 1 0.000798722 0.0008 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +7 81964578 CACNA2D1 G GA 50 0.16254 0.2173 . MedGen:CN169374 not_specified Benign . . . 0.2131 . intronic . 0.0050129 . . . . . . . . 0.2010 Name\x3d98.296986 -1 +7 81964649 CACNA2D1 T G 3 0.0385383 0.0112 . . . . . . . . . intronic . 0.0055627 . . . . . . . . . . -2 +7 82072789 CACNA2D1 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000214488|Promoter . . 0.0002 . UTR5 . 0.0001035 . . Name\x3dOREG1901533|N/A|STAT1|PAZAR,OREG1511098|N/A|EGR1|PAZAR . . . . . 0.0002 Name\x3d99.501598 5 +7 91603004 AKAP9 G A 1 0.0225639 0.0003 0.259 . . . . . . 0.0003 . intronic . 0.0067205 . . . . . . . . 0.0006 . 0 +7 91603115 AKAP9 C T 2 0.00219649 0.0108 -1.115 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0134 nonsynonymous_SNV exonic . 0.0083958 T . . . B T . . 0.0140 Name\x3d98.979146 2.5 +7 91622187 AKAP9 G C 1 0.000199681 . . . . . . . . 1.924e-05 . intronic . 1.29e-05 . . . . . . 0.0062 0.196 . Name\x3d98.607315 5 +7 91630330 AKAP9 G A 1 0.000199681 0.0003 -0.799 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202 Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0002264 T . . . B D . . 0.0001 Name\x3d98.721270 3 +7 91630532 AKAP9 G A 1 0.0177716 6.488e-05 2.698 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.551e-05 nonsynonymous_SNV exonic . 0.0036157 T . . . P T . . 0.0002 Name\x3d99.144111 2.5 +7 91630565 AKAP9 T C 1 0.000199681 0.0002 4.893 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0001358 T . . . D D . . 0.0002 Name\x3d99.294499 8 +7 91630620 AKAP9 G T 86 0.372204 0.3794 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1527249|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Colorectal_cancer|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4005 nonsynonymous_SNV exonic rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625 0.37713 T . . . B T . . 0.4030 Name\x3d98.248874 2.5 +7 91632306 AKAP9 C T 185 0.935903 0.8487 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.8662 synonymous_SNV exonic . 0.881858 . . . . . . . . 0.8727 Name\x3d97.909585 1 +7 91641682 AKAP9 A G 1 0.000998403 0.0005 . . . . . . . . . intronic . 0.000194 . . . . . . . . . . 2 +7 91641714 AKAP9 T C 1 0.00319489 6.483e-05 . . . . . . . 0.0002 . intronic . 0.0020698 . . . . . . . . . . 2 +7 91641928 AKAP9 A G 86 0.373802 0.3792 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4006 synonymous_SNV exonic . 0.378158 . . . . . . . . 0.4031 Name\x3d99.016230 1 +7 91643488 AKAP9 G C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91646406 AKAP9 G A 3 0.0109824 0.0064 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0179 nonsynonymous_SNV exonic . 0.0086739 T . . . B T . . 0.0089 Name\x3d98.284450 2.5 +7 91652178 AKAP9 A AAAC 86 0.42472 0.3774 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4012 nonframeshift_insertion exonic rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683 0.0116816 . . Name\x3dOREG1655788|N/A|FOXA1|PAZAR,OREG1597449|N/A|FOXA1|PAZAR,OREG1689839|N/A|GATA3|PAZAR . . . . . 0.4031 Name\x3d97.988638 2 +7 91659150 AKAP9 C G 86 0.373802 0.3802 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +7 91660820 AKAP9 A T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . 0.0005 . intronic . 0.0004269 . . . . . . 0.0002 0.048 0.0005 Name\x3d98.856765 3 +7 91667692 AKAP9 T G 86 0.359625 0.3784 . . . . . . . 0.4168 . intronic . 0.36418 . . . . . . . . 0.3989 Name\x3d96.327682 1 +7 91669950 AKAP9 T C 1 0.0091853 0.0176 . . . . . . . 0.0122 . intronic . 0.0011707 . . . . . . . . . . 0 +7 91669960 AKAP9 GT G 87 0.398363 0.0046 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.2608 . intronic . 0.0001164 . . . . . . . . . . 0 +7 91672166 AKAP9 T C 4 0.00738818 0.0075 . . . . . . . . . intronic . 0.0015588 . . Name\x3dOREG1271108|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.540475 8 +7 91674302 AKAP9 G A 86 0.428514 0.3793 . MedGen:C2678483,OMIM:611820|MedGen:CN169374 Long_QT_syndrome_11|not_specified Benign . . . 0.4013 . intronic . 0.388947 . . . . . . . . 0.4031 . 1 +7 91691601 AKAP9 C T 86 0.359824 0.3787 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4006 synonymous_SNV exonic . 0.3694 . . . . . . . . 0.4031 Name\x3d99.418209 1 +7 91706252 AKAP9 A G 1 0.000998403 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0004 synonymous_SNV exonic . 0.0007115 . . Name\x3dOREG1655784|N/A|FOXA1|PAZAR,OREG1597448|N/A|FOXA1|PAZAR,OREG1689838|N/A|GATA3|PAZAR . . . . . 0.0002 Name\x3d99.223680 4 +7 91707197 AKAP9 C T 86 0.36242 0.3795 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.4315 . intronic . 0.0001746 . . . . . . . 0.006 0.4004 Name\x3d98.037291 1 +7 91708722 AKAP9 G A 1 0.00159744 0.0043 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0039 synonymous_SNV exonic . 0.0029236 . . . . . . . . 0.0047 Name\x3d98.807394 3 +7 91708898 AKAP9 A G 31 0.0654952 0.1519 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1349 nonsynonymous_SNV exonic . 0.109035 T . . . B T . . 0.1273 Name\x3d98.258596 2.5 +7 91708935 AKAP9 T G 1 0.000199681 0.0005 -0.178 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0002911 T . . . B T . . 0.0002 Name\x3d98.887135 4.5 +7 91711791 AKAP9 A AT,G 1 0.360623 0.3801 . . . . . . . 0.4056 . intronic . 0.0001035 . . . . . . . . 0.4042 . 0 +7 91712609 AKAP9 A C 2 0.000798722 0.0019 -0.507 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0013001 T . . . B D . . 0.0013 Name\x3d98.736401 3 +7 91712678 AKAP9 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.456065 5 +7 91712698 AKAP9 A G 85 0.295927 0.3777 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3996 nonsynonymous_SNV exonic . 0.353333 T . . . B T . . 0.4013 Name\x3d99.156142 2.5 +7 91713016 AKAP9 TA T 86 0.360623 0.3954 . . . . . . . 0.5129 . intronic . 0.0043596 . . . . . . . . . . 0 +7 91713017 AKAP9 A T 73 0.322085 0.0004 . . . . . . . 0.0083 . intronic . 0.0309634 . . . . . . . . . . 0 +7 91713018 AKAP9 A T 86 0.360623 0.3775 . . . . . . . 0.4950 . intronic . 0.287849 . . . . . . . . . . 0 +7 91713972 AKAP9 C T 86 0.373802 0.3793 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4004 synonymous_SNV exonic . 0.373947 . . . . . . . . 0.4027 Name\x3d98.200976 1 +7 91714911 AKAP9 C T 214 0.998802 0.9941 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.9965 nonsynonymous_SNV exonic . 0.0001035 T . . . B T . . 0.9962 Name\x3d98.818023 2.5 +7 91714998 AKAP9 G A 1 0.000199681 . 0.726 . . . . . . 2.281e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.993761 6.5 +7 91715662 AKAP9 C T 85 0.295727 0.3779 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3994 synonymous_SNV exonic . 0.345701 . . . . . . . . 0.4013 Name\x3d99.049498 1 +7 91718874 AKAP9 A G 1 0.0125799 0.0217 0.526 . . . . . . 0.0194 . intronic . 0.0196375 . . . . . . . . 0.0203 Name\x3d97.308932 1 +7 91726280 AKAP9 G A 1 0.000199681 . 0.447 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d98.708410 6.5 +7 91726470 AKAP9 T C 1 0.000998403 0.0021 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0018 synonymous_SNV exonic . 0.0014942 . . . . . . . . 0.0030 Name\x3d99.231276 3 +7 91726927 AKAP9 A C 86 0.377396 0.3788 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4004 synonymous_SNV exonic . 0.379795 . . . . . . . . 0.4036 Name\x3d98.643307 1 +7 91727018 AKAP9 C A 1 0.000199681 . 0.054 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.437901 6.5 +7 91727385 AKAP9 G A 86 0.362021 0.3789 . . . . . . . 0.4175 . intronic . 0.365532 . . . . . . . . 0.4027 . 0 +7 91727479 AKAP9 A T 1 0.000599042 0.0011 6.273 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0008926 T . . . D D . . 0.0013 Name\x3d98.791561 6 +7 91727487 AKAP9 A G 1 0.000998403 0.0006 3.059 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0008021 T . . . P D . . 0.0008 Name\x3d98.674099 3 +7 91729127 AKAP9 A G 2 0.00678914 0.0100 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0098 nonsynonymous_SNV exonic . 0.0073479 T . . . B T . . 0.0088 Name\x3d98.850297 4.5 +7 91730115 AKAP9 G C 1 0.00139776 0.0079 . . . . . . . . . intronic . 0.0007568 . . . . . . . . . Name\x3d98.519386 3 +7 91732083 AKAP9 G A 1 0.00159744 0.0019 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0023 nonsynonymous_SNV exonic . 0.0015524 T . . . B T . . 0.0021 Name\x3d99.047890 4.5 +7 91734904 AKAP9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91734913 AKAP9 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91735104 AKAP9 A C 2 0.00139776 0.0005 . . . . . . . 0.0007 . intronic . 0.0008279 . . . . . . . . 0.0001 Name\x3d95.534004 3 +7 91735110 AKAP9 A G 1 0.000199681 6.487e-05 . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.534004 5 +7 91736794 AKAP9 T A 88 0.428315 0.3769 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +7 91736803 AKAP9 AT A 1 0.000599042 0.0033 . . . . . . . . . intronic . 0.0008068 . . . . . . . . . . 2 +7 91739498 AKAP9 G A 1 0.000399361 0.0002 . . . . . . . 0.0002 . UTR3 . 7.76e-05 . . . . . . . . . Name\x3d99.121816 5 +7 92077202 GATAD1 G A 1 0.000199681 . . . . . Name\x3dENSR00000215088|Promoter . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1193989|N/A|TFAP2C|PAZAR,OREG1516294|N/A|EGR1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR,OREG1907246|N/A|STAT1|PAZAR . . . . . . Name\x3d99.289036 7 +7 92077203 GATAD1 G A 25 0.0816693 0.1303 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign Name\x3dENSR00000215088|Promoter . . 0.3 nonsynonymous_SNV exonic . 0.0222572 T . Name\x3dOREG1516294|N/A|EGR1|PAZAR,OREG1193989|N/A|TFAP2C|PAZAR,OREG1907246|N/A|STAT1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.289036 5.5 +7 92084022 GATAD1 G GT 12 0.0179712 0.0342 . . . . . . . 0.0368 . intronic . 0.0011319 . . . . . . . . 0.0412 . 0 +7 92085763 GATAD1 C T 5 0.00698882 0.0139 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign . . . 0.0166 nonsynonymous_SNV exonic . 0.0117786 T . . . D D . . 0.0155 Name\x3d99.546593 4 +7 128470838 FLNC C T 21 0.110024 0.0926 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000217783|Promoter . . 0.0844 synonymous_SNV exonic . 0.091907 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0851 Name\x3d99.926054 1 +7 128471084 FLNC G A 1 0.000599042 0.0018 . . . . Name\x3dENSR00000217783|Promoter . . 0.0015 . intronic . 0.0008926 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0021 Name\x3d98.617837 3 +7 128475583 FLNC C A 1 0.000199681 . 2.790 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.925415 6 +7 128475624 FLNC C T 2 0.00119808 0.0018 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0026 synonymous_SNV exonic . 0.0017335 . . . . . . . . 0.0021 Name\x3d99.904921 1 +7 128475627 FLNC C T 1 0.000199681 0.0004 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0002523 . . . . . . 0.0001 0.074 0.0001 Name\x3d99.904921 3 +7 128477472 FLNC T C 26 0.121805 0.1202 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.108304 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1110 Name\x3d99.885324 0 +7 128477547 FLNC T C 26 0.121006 0.1201 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.107023 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1108 Name\x3d99.871093 0 +7 128477620 FLNC G A 24 0.076877 0.0897 . MedGen:CN169374 not_specified Benign . . . 0.0882 . intronic . 0.0807363 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0864 Name\x3d98.350675 0 +7 128477865 FLNC G A 8 0.197484 0.0396 . . . . . . . . . intronic . 0.0165522 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . . Name\x3d96.449430 0 +7 128478103 FLNC C T 8 0.196486 0.0397 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0430 synonymous_SNV exonic . 0.0938798 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0409 Name\x3d99.811704 0 +7 128478605 FLNC C T 1 0.0191693 0.0002 . . . . . . . . . intronic . 0.0052251 . . . . . . . . 0.0005 . -2 +7 128480099 FLNC C T 1 0.000199681 0.0003 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001164 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.837926 2 +7 128480123 FLNC C A 3 0.196086 0.0192 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0208 synonymous_SNV exonic . 0.0789058 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0179 Name\x3d99.845743 0 +7 128480229 FLNC C A 1 0.00139776 0.0062 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0065 . intronic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.189887 2 +7 128480620 FLNC T C 1 0.000199681 0.0003 4.290 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.0001682 D . Name\x3dOREG1511285|N/A|EGR1|PAZAR . D D . . 0.0001 Name\x3d99.843246 7 +7 128480666 FLNC C T 4 0.0159744 0.0445 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0400 synonymous_SNV exonic . 0.0309698 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0347 Name\x3d99.853672 0 +7 128480791 FLNC C G 27 0.298123 0.0914 . . . . . . . . . intronic . 0.0002689 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . . -1 +7 128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 4 0.019369 0.0442 . . . . . . . . . intronic . 0.0085677 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . Name\x3d97.612602 0 +7 128481035 FLNC G T 2 0.00239617 0.0004 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 . intronic . 0.0008409 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0005 Name\x3d99.198328 2 +7 128481060 FLNC G A 6 0.00459265 0.0078 . MedGen:CN169374 not_specified Likely_benign . . . 0.0101 . intronic . 0.0052069 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0075 Name\x3d99.235678 0 +7 128481196 FLNC T C 8 0.264976 0.0428 . MedGen:CN169374 not_specified Benign . . . 0.0456 . intronic . 0.117418 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0434 Name\x3d95.552168 0 +7 128481312 FLNC G A 1 0.00159744 0.0064 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0065 synonymous_SNV exonic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0054 Name\x3d99.917557 2 +7 128481386 FLNC T G 1 0.000399361 . 0.903 MedGen:CN169374 not_specified Likely_benign . . . 7.361e-05 nonsynonymous_SNV exonic . 0.0003428 T . Name\x3dOREG1511285|N/A|EGR1|PAZAR . P T . . . Name\x3d99.909324 5.5 +7 128481578 FLNC A C 1 0.00199681 0.0040 6.252 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0059 nonsynonymous_SNV exonic . 0.0033699 D . Name\x3dOREG1414129|N/A|E2F1|PAZAR,OREG1511285|N/A|EGR1|PAZAR . D D . . 0.0054 Name\x3d99.911369 8 +7 128482258 FLNC T C 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Likely_benign . . . 0.0058 . intronic . 0.0036028 . . Name\x3dOREG1807084|N/A|RBL2|PAZAR,OREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0058 Name\x3d97.682487 2 +7 128482440 FLNC C G 9 0.267372 0.0539 . MedGen:CN169374 not_specified Benign . . . 0.0541 . intronic . 0.124352 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0515 Name\x3d99.717984 0 +7 128482806 FLNC G T 4 0.0147764 0.0447 . . . . . . . 0.0691 . intronic . 0.0295727 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0348 . -1 +7 128482834 FLNC C T 5 0.00339457 0.0104 . MedGen:CN169374 not_specified Benign . . . 0.0176 . intronic . 0.0096635 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0114 Name\x3d97.784910 0 +7 128482835 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0454 . intronic . 0.0304265 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0352 Name\x3d97.784910 0 +7 128483227 FLNC T C 34 0.361821 0.1734 . . . . . . . . . intronic . 0.223336 . . . . . . . . 0.1647 . -2 +7 128483635 FLNC C T 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . 0.0012 0.008 . Name\x3d99.811524 4 +7 128484373 FLNC T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . . . . Name\x3d95.841478 4 +7 128484816 FLNC A G 34 0.379992 0.1725 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1635 synonymous_SNV exonic . 0.227856 . . . . . . . . 0.1648 Name\x3d99.911154 -1 +7 128484977 FLNC T G 1 0.000399361 0.0001 3.089 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided Uncertain_significance . . . 7.361e-05 nonsynonymous_SNV exonic . 7.76e-05 D . . . D T . . . Name\x3d99.903659 6 +7 128485240 FLNC C T 2 0.00199681 0.0116 5.769 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0092 nonsynonymous_SNV exonic . 0.0064035 D . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D D . . 0.0095 Name\x3d99.927642 6 +7 128486091 FLNC C T 4 0.0197684 0.0451 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0403 synonymous_SNV exonic . 0.0322117 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0345 Name\x3d99.724262 0 +7 128486252 FLNC T TGGGCAGGTGGGCAGGGCC 8 0.158147 0.0410 . . . . . . . 0.0427 . intronic . 0.0023286 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0411 . -1 +7 128486363 FLNC C T 35 0.346046 0.1723 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1718 synonymous_SNV exonic . 0.221077 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.1622 Name\x3d99.817214 1 +7 128486412 FLNC G A 1 0.000798722 0.0001 5.915 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.000925 T . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D T . . 0.0018 Name\x3d99.869129 5 +7 128486446 FLNC C T 8 0.160543 0.0395 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0428 synonymous_SNV exonic . 0.0846626 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0401 Name\x3d99.751165 0 +7 128486579 FLNC C T 2 0.0091853 0.0191 . . . . . . . . . intronic . 0.0028784 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . . Name\x3d95.382266 0 +7 128487866 FLNC T C 214 0.990615 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.942122 . . . . . . . . 1 Name\x3d99.845580 -1 +7 128487893 FLNC G A 8 0.257788 0.0426 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0455 synonymous_SNV exonic . 0.115917 . . . . . . . . 0.0433 Name\x3d99.841626 -1 +7 128488072 FLNC C T 1 0.000199681 . . . . . . . . 2.886e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.796056 3 +7 128488734 FLNC G A 21 0.0625 0.0889 4.924 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0871 nonsynonymous_SNV exonic . 0.0760145 T . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . D T . . 0.0850 Name\x3d99.753541 0 +7 128488800 FLNC G A 4 0.0147764 0.0449 . . . . . . . 0.0402 . intronic . 0.0306206 . . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . . . . . 0.0352 Name\x3d96.458778 0 +7 128490012 FLNC C T 1 0.000798722 . . MedGen:CN169374 not_specified Likely_benign . . . 4.969e-05 . intronic . 0.0002199 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR,OREG1948233|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629189 2 +7 128490553 FLNC T C 37 0.403355 0.2066 . MedGen:CN169374 not_specified Benign . . . 0.1952 . intronic . 0.25347 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR . . . . . 0.1900 . 0 +7 128490926 FLNC C T 1 0.000599042 0.0002 5.676 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.47e-05 D . Name\x3dOREG1511286|N/A|EGR1|PAZAR . D D . . . Name\x3d99.911903 8 +7 128491497 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0402 . intronic . 0.0308534 . . . . . . 0.0004 0.03 0.0352 Name\x3d96.588695 -1 +7 128491603 FLNC T C 8 0.288938 0.0430 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0458 synonymous_SNV exonic . 0.126001 . . . . . . . . 0.0448 Name\x3d99.571013 -1 +7 128492817 FLNC G A 1 0.00399361 0.0103 . MedGen:CN169374 not_specified Benign . . . 0.0107 . intronic . 0.0075096 . . . . . . . . 0.0128 Name\x3d98.608845 -1 +7 128492825 FLNC G A 1 0.00479233 0.0180 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0127295 . . . . . . . . 0.0172 Name\x3d97.784642 -1 +7 128495338 FLNC C T 9 0.258786 0.0424 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0454 synonymous_SNV exonic . 0.117101 . . . . . . . . 0.0436 Name\x3d99.788221 -1 +7 128497040 FLNC C T 1 0.00638978 0.0082 . . . . . . . . . intronic . 0.0014489 . . . . . . . . . Name\x3d95.648942 1 +7 128498228 FLNC C T 1 0.000399361 0.0014 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0010 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0004 Name\x3d99.884349 1 +7 128498630 FLNC TACACAC TACAC,T 1 0.0890575 0.1095 . . . . . . . . . UTR3 . 0.0001537 . . . . . . . . . Name\x3d99.391891 -1 +7 136699781 CHRM2 G A 1 0.000199681 6.494e-05 4.382 . . . . . . 7.369e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D T . . . Name\x3d99.221010 5 +7 136700303 CHRM2 G A 1 0.000998403 0.0066 2.077 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0031694 T . . . B T . . 0.0049 Name\x3d98.373524 4.5 +7 136700385 CHRM2 A G 1 0.000998403 0.0008 -1.074 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0014165 T . . . B T . . 0.0017 Name\x3d98.345054 4.5 +7 136700726 CHRM2 C G 1 0.000399361 0.0014 0.481 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0011707 T . . . B T . . 0.0016 Name\x3d99.064361 4.5 +7 150644388 KCNH2 C G 1 0.000399361 0.0004 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . Name\x3d95.455739 5 +7 150644394 KCNH2 C T 50 0.385583 0.2218 . . . . . . . 0.3438 . intronic . 0.119759 . . . . . . . . 0.1625 Name\x3d97.052835 1 +7 150644428 KCNH2 C A 3 0.00898562 0.0355 5.379 EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.015 nonsynonymous_SNV exonic . 0.0071927 T . . . B T . . 0.0178 Name\x3d99.914344 1 +7 150644755 KCNH2 C T 1 0.000199681 6.494e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 6.178e-05 synonymous_SNV exonic . 3.88e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.875936 6 +7 150644866 KCNH2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.931807 6 +7 150644890 KCNH2 C G 1 0.000199681 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.891142 6 +7 150645015 KCNH2 G A 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.463811 4 +7 150645023 KCNH2 G A 20 0.174121 0.1144 . . . . . . . . . intronic . 0.0226776 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.088842 2 +7 150645534 KCNH2 T G 63 0.136182 0.2613 2.039 EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0005110,MedGen:C0004238|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Atrial_fibrillation|Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2327 nonsynonymous_SNV exonic rs1805123|Body-mass-index||3E-13|PMID:30595370 0.181039 T . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . P T . 0.024 0.2326 Name\x3d99.935937 3.5 +7 150645682 KCNH2 G A 134 0.709465 0.5611 . . . . . . . 0.5609 . intronic . 0.002749 . . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5610 Name\x3d98.570218 2 +7 150647569 KCNH2 T C 138 0.754992 0.5999 . . . . . . . . . intronic . 0.0199785 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.442207 2 +7 150647969 KCNH2 C T 67 0.273762 0.2588 . . . . . . . 0.2644 . intronic rs2072413|QT-interval|1.534928|3E-10|PMID:31217584 0.233302 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2281 Name\x3d97.922226 2 +7 150647970 KCNH2 C G 67 0.273762 0.2591 . . . . . . . 0.2650 . intronic . 0.233516 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2324 Name\x3d97.922226 2 +7 150648198 KCNH2 A G 138 0.772165 0.6011 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.5985 synonymous_SNV exonic . 0.652417 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5898 Name\x3d99.928297 2 +7 150648229 KCNH2 G A 1 0.00239617 6.495e-05 . . . . . . . 5.934e-05 . intronic . 0.0004269 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.854819 4 +7 150648789 KCNH2 T C 76 0.608427 0.3831 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00001133220|Enhancer . . 0.3749 synonymous_SNV exonic . 0.464567 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.3601 Name\x3d99.937504 3 +7 150648986 KCNH2 G C 78 0.431709 0.3306 . . . . Name\x3dENSR00001133220|Enhancer . . . . intronic . 0.0001153 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.811896 3 +7 150649531 KCNH2 G A 50 0.341653 0.2216 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2205 synonymous_SNV exonic . 0.281769 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.2133 Name\x3d99.935941 2 +7 150649542 KCNH2 G A 1 0.000599042 0.0014 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.0013842 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0017 Name\x3d99.937377 4 +7 150649603 KCNH2 G A 51 0.342652 0.2227 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2197 synonymous_SNV exonic . 0.281238 . . Name\x3dOREG1518326|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2135 Name\x3d99.936884 2 +7 150649984 KCNH2 G C 1 0.000199681 0.0001 . . . . . . . 9.612e-05 . intronic . 5.17e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0003 Name\x3d98.858473 6 +7 150652419 KCNH2 T C 20 0.133786 0.1128 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0205172 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . . Name\x3d99.455927 3 +7 150652420 KCNH2 G A 1 0.000199681 0.0005 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0001537 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.455927 5 +7 150654622 KCNH2 A AG 214 1 1 . . . . . . . 1 . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.9988 Name\x3d99.133938 2 +7 150655624 KCNH2 T C 70 0.501797 0.3342 . . . . . Name\x3dTEAD4::MAX|ENSPFM0565|ENSM00196668572|11.0508198118 . 0.3456 . intronic . 0.146311 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.2406 Name\x3d98.995433 4 +7 150655643 KCNH2 G A 70 0.4998 0.3343 . . . . . . . . . intronic . 0.0660535 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.114841 3 +7 150656690 KCNH2 G A 1 0.000599042 0.0006 4.974 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0009702 D . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . B D . . 0.0019 Name\x3d99.909359 7 +7 150671769 KCNH2 G A 1 0.0215655 0.0028 . . . . Name\x3dENSR00000843782|Promoter . . 0.0094 . intronic . 0.0047865 . . Name\x3dOREG1195931|N/A|TFAP2C|PAZAR,OREG1518323|N/A|EGR1|PAZAR . . . . . 0.0025 Name\x3d99.825010 3 +7 150671772 KCNH2 C G 1 0.00219649 0.0034 . . . . Name\x3dENSR00000843782|Promoter . . 0.0047 . intronic . 0.0008667 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.580146 5 +7 150671793 KCNH2 T C 1 0.000199681 . . . . . Name\x3dENSR00000843782|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . 0.064 . Name\x3d99.886612 7 +7 150675078 KCNH2 C G 1 0.000199681 . . . . . Name\x3dENSR00000219763|Promoter . . . . UTR5 . 3.84e-05 . . . . . . . . . Name\x3d99.855006 6 +7 151254175 PRKAG2 T C 139 0.554313 0.6412 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign . . . . . UTR3 . 0.120975 . . . . . . . . . Name\x3d99.634026 -1 +7 151254231 PRKAG2 C T 3 0.00519169 0.0069 . . . . . . . . . UTR3 . 0.0014036 . . . . . . . . 0.0082 Name\x3d99.779129 5 +7 151254443 PRKAG2 G A 8 0.0131789 0.0439 . . . . . . . . . intronic . 0.0040038 . . . . . . . . . Name\x3d96.862168 -1 +7 151254445 PRKAG2 T C 139 0.540136 0.6415 . . . . . . . . . intronic . 0.0066851 . . . . . . . . . Name\x3d96.862168 -1 +7 151262385 PRKAG2 T C 8 0.0171725 0.0331 . . . . . . . 0.0427 . intronic . 0.0240165 . . . . . . . . 0.0316 Name\x3d98.515273 -1 +7 151262528 PRKAG2 A C 1 0.00239617 0.0008 . . . . . . . . . intronic . 0.001191 . . . . . . . . . Name\x3d96.112605 1 +7 151267237 PRKAG2 GA GAA 2 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d99.488128 5 +7 151267292 PRKAG2 T A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 3.699e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.871140 3 +7 151267353 PRKAG2 G A 23 0.144169 0.1206 . MedGen:CN169374 not_specified Benign . . . 0.1170 . intronic . 0.136803 . . . . . . . . 0.1105 Name\x3d99.186830 -1 +7 151267397 PRKAG2 G A 40 0.242412 0.2441 . . . . . . . . . intronic . 0.0458597 . . . . . . . . . Name\x3d98.575774 -1 +7 151269890 PRKAG2 T A 23 0.147764 0.1203 . . . . . . . . . intronic . 0.0247668 . . . . . . . . . Name\x3d97.272002 -1 +7 151269916 PRKAG2 C T 23 0.147764 0.1206 . . . . . . . . . intronic . 0.13182 . . . . . . . . . Name\x3d97.077991 -1 +7 151292395 PRKAG2 A AT 156 0.804712 0.7260 . MedGen:CN169374 not_specified Likely_benign . . . 0.7366 . intronic . 0.0997335 . . . . . . . . 0.7284 . -2 +7 151292609 PRKAG2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 151292614 PRKAG2 C T 1 0.000199681 0.0002 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 151329345 PRKAG2 G A 2 0.0547125 0.0044 . . . . Name\x3dENSR00000219874|Promoter . . . . intronic . 0.0203627 . . Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.612887 1 +7 151372472 PRKAG2 C T 1 0.000399361 0.0016 . . . . . . . 0.0011 . intronic . 0.0008926 . . . . . . . . 0.0008 Name\x3d97.049855 1 +7 151372744 PRKAG2 A G 1 0.061901 0.0138 . MedGen:CN517202 not_provided Benign . . . 0.0152 . intronic . 0.025653 . . . . . . . . 0.0120 Name\x3d96.103704 -1 +7 151478187 PRKAG2 A G 10 0.0157748 0.0502 . . . . . . . 0.0487 . intronic . 0.0338288 . . . . . . . . 0.0491 Name\x3d96.281282 -1 +7 151478227 PRKAG2 C G 1 0.000199681 . . . . . . . . 5.537e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d99.718785 3 +7 151483608 PRKAG2 A T 1 0.000199681 . 3.373 . . . . . . 4.448e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.857256 6 +7 151573549 PRKAG2 G A 7 0.0587061 0.0408 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000219921|Promoter . . 0.0451 . intronic . 0.0548052 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0434 Name\x3d99.804895 1 +7 151573580 PRKAG2 G A 7 0.0277556 0.0809 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.0701 . intronic . 0.0508338 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0769 Name\x3d99.665623 1 +7 151573731 PRKAG2 G A 26 0.188898 0.1319 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.1273 . UTR5 . 0.162378 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.1259 Name\x3d99.865855 1 +8 11566168 GATA4 C T 1 0.000199681 . 3.029 . . . Name\x3dENSR00000847833|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1490706|N/A|EGR1|PAZAR . P T . . . Name\x3d99.929428 5 +8 11606364 GATA4 G C 23 0.0493211 0.1876 . MedGen:C0152021,SNOMED_CT:13213009 Congenital_heart_disease Pathogenic . . . . . intronic . 0.0242494 . . Name\x3dOREG1490707|N/A|EGR1|PAZAR . . . . . . . -1 +8 11607658 GATA4 C T 1 0.00179712 0.0040 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0030 synonymous_SNV exonic . 0.0025226 . . . . . . . . 0.0040 Name\x3d99.937562 1 +8 11607693 GATA4 C T 1 0.000599042 . 6.411 . . . . . . 7.391e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.900424 4 +8 11612512 GATA4 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 7.12e-05 . . . . . . . . . Name\x3d96.931764 3 +8 11612519 GATA4 A C 1 0.000199681 . . . . . . . . 2.242e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.931764 3 +8 11612665 GATA4 A T 1 0.0233626 0.0003 . . . . Name\x3dENSR00000847839|TF_binding_site . . 0.0005 . intronic . 0.0062936 . . . . . . . . 0.0003 Name\x3d98.612892 0 +8 11612698 GATA4 C A 119 0.734425 0.5737 . MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202 Congenital_heart_disease|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000847839|TF_binding_site . . . . intronic rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560 0.123737 . . . . . . . . 0.5839 Name\x3d97.533169 2 +8 11614575 GATA4 A G 21 0.0429313 0.1589 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000847840|TF_binding_site . . 0.1328 nonsynonymous_SNV exonic . 0.0944554 T . . . B T . . 0.14 Name\x3d99.865437 1.5 +8 11616015 GATA4 C T 1 0.000199681 0.0006 . . . . . . . 0.0001 . UTR3 . 0.0001294 . . . . . . . . 0.0001 Name\x3d99.602493 1 +8 74888494 TMEM70 C T 61 0.216653 0.2985 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign Name\x3dENSR00000225937|Promoter . . 0.3696 . UTR5 . 0.254518 . . Name\x3dOREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR,OREG1483664|N/A|E2F4|PAZAR . . . . . 0.2945 Name\x3d98.505951 1 +8 74888616 TMEM70 G C 42 0.176118 0.1276 2.230 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign Name\x3dENSR00000225937|Promoter . . 0.1656 nonsynonymous_SNV exonic . 0.0007309 T . Name\x3dOREG1483664|N/A|E2F4|PAZAR,OREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR . D T . . 0.1301 Name\x3d99.798051 1 +8 74890961 TMEM70 A G 106 0.477835 0.4486 . . . . Name\x3dENSR00000225937|Promoter . . 0.4595 . intronic . 0.0025679 . . . . . . . . 0.4551 . -1 +8 74890985 TMEM70 C T 2 0.000599042 0.0035 . MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000225937|Promoter . . 0.0042 . intronic . 0.002859 . . . . . . . 0.008 0.0040 Name\x3d98.973845 2 +8 74891164 TMEM70 A G 42 0.186102 0.1276 . . . . Name\x3dENSR00000225937|Promoter . . . . intronic . 0.0274964 . . . . . . . . . . -1 +8 74893419 TMEM70 C G 3 0.0227636 0.0215 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign/Likely_benign . . . 0.0206 nonsynonymous_SNV exonic . 0.0223218 T . . . B T . . 0.0177 Name\x3d99.302981 0.5 +8 74893653 TMEM70 G A 5 0.0071885 0.0172 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided Benign . . Name\x3dMIMAT0000432|hsa-miR-141-3p|Experimental,MIMAT0002816|hsa-miR-494-3p|Experimental,MIMAT0000682|hsa-miR-200a-3p|Experimental 0.0174 nonsynonymous_SNV exonic . 0.0122896 T . . . P D . . 0.0156 Name\x3d99.338101 0 +8 74893727 TMEM70 A G 1 0.000199681 0.0003 . . . . . . Name\x3dMIMAT0000426|hsa-miR-132-3p|Experimental 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d99.245887 4 +8 74893821 TMEM70 A G 45 0.258986 0.1503 -3.329 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1586 nonsynonymous_SNV exonic . 0.195114 T . . . B T . . 0.1556 Name\x3d98.679883 0.5 +8 74893839 TMEM70 C T 1 0.000199681 . -1.050 . . . . . . 5.561e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.653535 4.5 +8 74893850 TMEM70 C G 45 0.258986 0.1503 -1.736 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1589 nonsynonymous_SNV exonic . 0.192999 T . . . B T . . 0.1556 Name\x3d98.677492 0.5 +8 74893880 TMEM70 C T 106 0.47504 0.4498 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign . . Name\x3dMIMAT0000418|hsa-miR-23b-3p|Experimental,MIMAT0000078|hsa-miR-23a-3p|Experimental 0.4710 . UTR3 . 0.459774 . . . . . . . . 0.4513 Name\x3d95.799980 0 +9 7161999 KDM4C A C 6 0.00599042 0.0156 . . . . . . . . . intronic . 0.0121024 . . . . . . . . . . -2 +9 7162001 KDM4C CT C 2 0.000798722 0.0011 . . . . . . . . . intronic . 0.0003074 . . . . . . . . . . 0 +9 7162074 KDM4C A C 5 0.0061901 0.0123 . . . . . . . . . intronic . 0.0112571 . . . . . . . . . . -2 +9 7162249 KDM4C C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +9 7162351 KDM4C G A 73 0.126797 0.1884 . . . . . . . . . intronic . 0.167704 . . . . . . . . . . -2 +9 7162437 KDM4C G A 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 0 +9 71650692 FXN G A 9 0.00758786 0.0292 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000235547|Promoter . . 0.0262 . UTR5 . 0.0045601 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.411050 3 +9 71650752 FXN A G 214 0.984824 0.9999 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000235547|Promoter . . 1 synonymous_SNV exonic . 0.273865 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.530374 3 +9 71650878 FXN C T 1 0.00119808 . . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0001164 . . Name\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1481069|N/A|E2F4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1551842|N/A|ETS1|PAZAR . . . . . . Name\x3d99.574388 5 +9 71650906 FXN G GGCCGCAC 4 0.00339457 0.0096 . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0004722 . . Name\x3dOREG1551842|N/A|ETS1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.638668 9 +9 71661314 FXN G A 1 0.00179712 . -0.060 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 1.865e-05 nonsynonymous_SNV exonic . 0.0002975 T . . . B T . . . Name\x3d98.940842 4.5 +9 71667986 FXN G A 86 0.349241 0.4445 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.008776 1 +9 71668197 FXN T C 120 0.501597 0.5127 . . . . . . . 0.5329 . intronic . 0.513253 . . . . . . . . 0.5149 Name\x3d97.951041 1 +9 71680034 FXN C T 1 0.000998403 0.0016 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 +9 71687440 FXN C T 91 0.467053 0.3999 . . . . . . . . . intronic . 0.0843585 . . . . . . . . . . 0 +9 71687451 FXN G A 1 0.000998403 0.0033 . . . . . . . . . intronic . 0.0003622 . . . . . . . . . Name\x3d95.314843 3 +9 103340369 CAVIN4 G A 84 0.302915 0.4305 . . . . Name\x3dENSR00000888957|Promoter . . . . UTR5 . 0.0763574 . . . . . . . . . . 0 +9 103340875 CAVIN4 T C 65 0.210663 0.3442 . . . . Name\x3dENSR00000888957|Promoter . . 0.3237 . intronic . 0.281607 . . . . . . . . 0.3068 . 0 +9 103348157 CAVIN4 G C 1 0.000199681 0.0006 . MedGen:CN169374 not_specified Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0003687 . . . . . . . . 0.0005 Name\x3d98.166246 1 +9 103348208 CAVIN4 A T 4 0.117812 0.0216 . MedGen:CN169374 not_specified Benign . . . 0.0244 synonymous_SNV exonic . 0.0598957 . . . . . . . . 0.0236 Name\x3d98.394332 -1 +9 103348340 CAVIN4 A G 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0003752 . . . . . . . . . Name\x3d98.012559 1 +9 103348343 CAVIN4 G A 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0002846 . . . . . . . . . Name\x3d98.325290 1 +9 103348352 CAVIN4 A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 0.0002523 . . . . . . . . . Name\x3d98.428835 1 +9 103348538 CAVIN4 C T 1 0.000199681 0.0002 . . . . . . . 0.0003 synonymous_SNV exonic . 0.0002005 . . . . . . . . 0.0005 Name\x3d95.576170 1 +9 103348634 CAVIN4 G A 84 0.293331 0.4275 . MedGen:CN169374 not_specified Benign . . . 0.4021 synonymous_SNV exonic . 0.370396 . . . . . . . . 0.4166 Name\x3d95.267874 1 +9 108363426 FKTN C T 8 0.0103834 0.0245 5.704 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0389 nonsynonymous_SNV exonic . 0.0183503 D . . . D D 0.9959 0.826 0.0283 Name\x3d99.186017 8 +9 108366499 FKTN G A 1 0.0371406 0.0107 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0106 nonsynonymous_SNV exonic . 0.015569 T . . . P T . . 0.0114 Name\x3d99.128450 2.5 +9 108366734 FKTN G A 55 0.158147 0.3227 3.672 MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign . . . 0.3049 nonsynonymous_SNV exonic . 0.248975 T . . . P T . . 0.3190 Name\x3d99.339457 3.5 +9 108370163 FKTN C G 1 0.000199681 . 2.079 . . . . . Name\x3dMIMAT0000093|hsa-miR-93-5p|Experimental . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.048201 7.5 +9 108380223 FKTN T A 2 0.000399361 . . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . . . 4 +9 108380355 FKTN C A 55 0.178315 0.3218 . MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222|MedGen:CN517202 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive|not_provided Benign/Likely_benign . . . 0.3055 synonymous_SNV exonic . 0.0016688 . . . . . . . . 0.3177 Name\x3d98.998867 1 +9 108380417 FKTN A G 4 0.0113818 0.0384 . MedGen:CN169374 not_specified Benign . . . 0.0406 . intronic . 0.0275288 . . . . . . . . 0.0375 . 0 +9 108397426 FKTN T C 1 0.000199681 . 6.116 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.295213 11 +9 131707989 DOLK G A 1 0.000199681 . 1.384 . . . . . Name\x3dMIMAT0000414|hsa-let-7g-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000065|hsa-let-7d-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d97.807201 9 +9 131708145 DOLK T C 1 0.000199681 0.0001 0.079 MedGen:CN517202 not_provided Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . 0.0001 Name\x3d98.425746 6.5 +9 131708504 DOLK T C 1 0.000798722 0.0005 3.446 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Likely_benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0013325 T . . . D D . . 0.0009 Name\x3d98.593310 6 +9 131708883 DOLK T C 1 0.000998403 0.0018 -0.828 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Uncertain_significance Name\x3dENSR00000241930|Promoter . . 0.0020 nonsynonymous_SNV exonic . 0.0011643 T . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR . B T . . 0.0014 Name\x3d97.681988 6.5 +9 131709581 DOLK A AT 1 0.00259585 0.0097 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000241930|Promoter . . 0.0139 frameshift_insertion exonic . 0.0001552 . . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1223386|N/A|SMARCA4|PAZAR,OREG1798525|N/A|RBL2|PAZAR . . . . . 0.0092 Name\x3d98.197933 11
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/VINYL_output2_test.vcf Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,4120 @@ +##fileformat=VCFv4.1 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20150218 +##reference=ftp://ftp.1000genomes.ebi.ac.uk//vol1/ftp/technical/reference/phase2_reference_assembly_sequence/hs37d5.fa.gz +##source=1000GenomesPhase3Pipeline +##contig=<ID=1,assembly=b37,length=249250621> +##contig=<ID=2,assembly=b37,length=243199373> +##contig=<ID=3,assembly=b37,length=198022430> +##contig=<ID=4,assembly=b37,length=191154276> +##contig=<ID=5,assembly=b37,length=180915260> +##contig=<ID=6,assembly=b37,length=171115067> +##contig=<ID=7,assembly=b37,length=159138663> +##contig=<ID=8,assembly=b37,length=146364022> +##contig=<ID=9,assembly=b37,length=141213431> +##contig=<ID=10,assembly=b37,length=135534747> +##contig=<ID=11,assembly=b37,length=135006516> +##contig=<ID=12,assembly=b37,length=133851895> 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+##contig=<ID=GL000239.1,assembly=b37,length=33824> +##contig=<ID=GL000240.1,assembly=b37,length=41933> +##contig=<ID=GL000241.1,assembly=b37,length=42152> +##contig=<ID=GL000242.1,assembly=b37,length=43523> +##contig=<ID=GL000243.1,assembly=b37,length=43341> +##contig=<ID=GL000244.1,assembly=b37,length=39929> +##contig=<ID=GL000245.1,assembly=b37,length=36651> +##contig=<ID=GL000246.1,assembly=b37,length=38154> +##contig=<ID=GL000247.1,assembly=b37,length=36422> +##contig=<ID=GL000248.1,assembly=b37,length=39786> +##contig=<ID=GL000249.1,assembly=b37,length=38502> +##contig=<ID=MT,assembly=b37,length=16569> +##contig=<ID=NC_007605,assembly=b37,length=171823> +##contig=<ID=X,assembly=b37,length=155270560> +##contig=<ID=Y,assembly=b37,length=59373566> +##contig=<ID=hs37d5,assembly=b37,length=35477943> +##ALT=<ID=CNV,Description="Copy Number Polymorphism"> +##ALT=<ID=DEL,Description="Deletion"> +##ALT=<ID=DUP,Description="Duplication"> +##ALT=<ID=INS:ME:ALU,Description="Insertion of ALU element"> +##ALT=<ID=INS:ME:LINE1,Description="Insertion of LINE1 element"> +##ALT=<ID=INS:ME:SVA,Description="Insertion of SVA element"> +##ALT=<ID=INS:MT,Description="Nuclear Mitochondrial Insertion"> +##ALT=<ID=INV,Description="Inversion"> +##ALT=<ID=CN0,Description="Copy number allele: 0 copies"> +##ALT=<ID=CN1,Description="Copy number allele: 1 copy"> +##ALT=<ID=CN2,Description="Copy number allele: 2 copies"> +##ALT=<ID=CN3,Description="Copy number allele: 3 copies"> +##ALT=<ID=CN4,Description="Copy number allele: 4 copies"> +##ALT=<ID=CN5,Description="Copy number allele: 5 copies"> +##ALT=<ID=CN6,Description="Copy number allele: 6 copies"> +##ALT=<ID=CN7,Description="Copy number allele: 7 copies"> +##ALT=<ID=CN8,Description="Copy number allele: 8 copies"> +##ALT=<ID=CN9,Description="Copy number allele: 9 copies"> +##ALT=<ID=CN10,Description="Copy number allele: 10 copies"> +##ALT=<ID=CN11,Description="Copy number allele: 11 copies"> +##ALT=<ID=CN12,Description="Copy number allele: 12 copies"> +##ALT=<ID=CN13,Description="Copy number allele: 13 copies"> +##ALT=<ID=CN14,Description="Copy number allele: 14 copies"> +##ALT=<ID=CN15,Description="Copy number allele: 15 copies"> +##ALT=<ID=CN16,Description="Copy number allele: 16 copies"> +##ALT=<ID=CN17,Description="Copy number allele: 17 copies"> +##ALT=<ID=CN18,Description="Copy number allele: 18 copies"> +##ALT=<ID=CN19,Description="Copy number allele: 19 copies"> +##ALT=<ID=CN20,Description="Copy number allele: 20 copies"> +##ALT=<ID=CN21,Description="Copy number allele: 21 copies"> +##ALT=<ID=CN22,Description="Copy number allele: 22 copies"> +##ALT=<ID=CN23,Description="Copy number allele: 23 copies"> +##ALT=<ID=CN24,Description="Copy number allele: 24 copies"> +##ALT=<ID=CN25,Description="Copy number allele: 25 copies"> +##ALT=<ID=CN26,Description="Copy number allele: 26 copies"> +##ALT=<ID=CN27,Description="Copy number allele: 27 copies"> +##ALT=<ID=CN28,Description="Copy number allele: 28 copies"> +##ALT=<ID=CN29,Description="Copy number allele: 29 copies"> +##ALT=<ID=CN30,Description="Copy number allele: 30 copies"> +##ALT=<ID=CN31,Description="Copy number allele: 31 copies"> +##ALT=<ID=CN32,Description="Copy number allele: 32 copies"> +##ALT=<ID=CN33,Description="Copy number allele: 33 copies"> +##ALT=<ID=CN34,Description="Copy number allele: 34 copies"> +##ALT=<ID=CN35,Description="Copy number allele: 35 copies"> +##ALT=<ID=CN36,Description="Copy number allele: 36 copies"> +##ALT=<ID=CN37,Description="Copy number allele: 37 copies"> +##ALT=<ID=CN38,Description="Copy number allele: 38 copies"> +##ALT=<ID=CN39,Description="Copy number allele: 39 copies"> +##ALT=<ID=CN40,Description="Copy number allele: 40 copies"> +##ALT=<ID=CN41,Description="Copy number allele: 41 copies"> +##ALT=<ID=CN42,Description="Copy number allele: 42 copies"> +##ALT=<ID=CN43,Description="Copy number allele: 43 copies"> +##ALT=<ID=CN44,Description="Copy number allele: 44 copies"> +##ALT=<ID=CN45,Description="Copy number allele: 45 copies"> +##ALT=<ID=CN46,Description="Copy number allele: 46 copies"> +##ALT=<ID=CN47,Description="Copy number allele: 47 copies"> +##ALT=<ID=CN48,Description="Copy number allele: 48 copies"> +##ALT=<ID=CN49,Description="Copy number allele: 49 copies"> +##ALT=<ID=CN50,Description="Copy number allele: 50 copies"> +##ALT=<ID=CN51,Description="Copy number allele: 51 copies"> +##ALT=<ID=CN52,Description="Copy number allele: 52 copies"> +##ALT=<ID=CN53,Description="Copy number allele: 53 copies"> +##ALT=<ID=CN54,Description="Copy number allele: 54 copies"> +##ALT=<ID=CN55,Description="Copy number allele: 55 copies"> +##ALT=<ID=CN56,Description="Copy number allele: 56 copies"> +##ALT=<ID=CN57,Description="Copy number allele: 57 copies"> +##ALT=<ID=CN58,Description="Copy number allele: 58 copies"> +##ALT=<ID=CN59,Description="Copy number allele: 59 copies"> +##ALT=<ID=CN60,Description="Copy number allele: 60 copies"> +##ALT=<ID=CN61,Description="Copy number allele: 61 copies"> +##ALT=<ID=CN62,Description="Copy number allele: 62 copies"> +##ALT=<ID=CN63,Description="Copy number allele: 63 copies"> +##ALT=<ID=CN64,Description="Copy number allele: 64 copies"> +##ALT=<ID=CN65,Description="Copy number allele: 65 copies"> +##ALT=<ID=CN66,Description="Copy number allele: 66 copies"> +##ALT=<ID=CN67,Description="Copy number allele: 67 copies"> +##ALT=<ID=CN68,Description="Copy number allele: 68 copies"> +##ALT=<ID=CN69,Description="Copy number allele: 69 copies"> +##ALT=<ID=CN70,Description="Copy number allele: 70 copies"> +##ALT=<ID=CN71,Description="Copy number allele: 71 copies"> +##ALT=<ID=CN72,Description="Copy number allele: 72 copies"> +##ALT=<ID=CN73,Description="Copy number allele: 73 copies"> +##ALT=<ID=CN74,Description="Copy number allele: 74 copies"> +##ALT=<ID=CN75,Description="Copy number allele: 75 copies"> +##ALT=<ID=CN76,Description="Copy number allele: 76 copies"> +##ALT=<ID=CN77,Description="Copy number allele: 77 copies"> +##ALT=<ID=CN78,Description="Copy number allele: 78 copies"> +##ALT=<ID=CN79,Description="Copy number allele: 79 copies"> +##ALT=<ID=CN80,Description="Copy number allele: 80 copies"> +##ALT=<ID=CN81,Description="Copy number allele: 81 copies"> +##ALT=<ID=CN82,Description="Copy number allele: 82 copies"> +##ALT=<ID=CN83,Description="Copy number allele: 83 copies"> +##ALT=<ID=CN84,Description="Copy number allele: 84 copies"> +##ALT=<ID=CN85,Description="Copy number allele: 85 copies"> +##ALT=<ID=CN86,Description="Copy number allele: 86 copies"> +##ALT=<ID=CN87,Description="Copy number allele: 87 copies"> +##ALT=<ID=CN88,Description="Copy number allele: 88 copies"> +##ALT=<ID=CN89,Description="Copy number allele: 89 copies"> +##ALT=<ID=CN90,Description="Copy number allele: 90 copies"> +##ALT=<ID=CN91,Description="Copy number allele: 91 copies"> +##ALT=<ID=CN92,Description="Copy number allele: 92 copies"> +##ALT=<ID=CN93,Description="Copy number allele: 93 copies"> +##ALT=<ID=CN94,Description="Copy number allele: 94 copies"> +##ALT=<ID=CN95,Description="Copy number allele: 95 copies"> +##ALT=<ID=CN96,Description="Copy number allele: 96 copies"> +##ALT=<ID=CN97,Description="Copy number allele: 97 copies"> +##ALT=<ID=CN98,Description="Copy number allele: 98 copies"> +##ALT=<ID=CN99,Description="Copy number allele: 99 copies"> +##ALT=<ID=CN100,Description="Copy number allele: 100 copies"> +##ALT=<ID=CN101,Description="Copy number allele: 101 copies"> +##ALT=<ID=CN102,Description="Copy number allele: 102 copies"> +##ALT=<ID=CN103,Description="Copy number allele: 103 copies"> +##ALT=<ID=CN104,Description="Copy number allele: 104 copies"> +##ALT=<ID=CN105,Description="Copy number allele: 105 copies"> +##ALT=<ID=CN106,Description="Copy number allele: 106 copies"> +##ALT=<ID=CN107,Description="Copy number allele: 107 copies"> +##ALT=<ID=CN108,Description="Copy number allele: 108 copies"> +##ALT=<ID=CN109,Description="Copy number allele: 109 copies"> +##ALT=<ID=CN110,Description="Copy number allele: 110 copies"> +##ALT=<ID=CN111,Description="Copy number allele: 111 copies"> +##ALT=<ID=CN112,Description="Copy number allele: 112 copies"> +##ALT=<ID=CN113,Description="Copy number allele: 113 copies"> +##ALT=<ID=CN114,Description="Copy number allele: 114 copies"> +##ALT=<ID=CN115,Description="Copy number allele: 115 copies"> +##ALT=<ID=CN116,Description="Copy number allele: 116 copies"> +##ALT=<ID=CN117,Description="Copy number allele: 117 copies"> +##ALT=<ID=CN118,Description="Copy number allele: 118 copies"> +##ALT=<ID=CN119,Description="Copy number allele: 119 copies"> +##ALT=<ID=CN120,Description="Copy number allele: 120 copies"> +##ALT=<ID=CN121,Description="Copy number allele: 121 copies"> +##ALT=<ID=CN122,Description="Copy number allele: 122 copies"> +##ALT=<ID=CN123,Description="Copy number allele: 123 copies"> +##ALT=<ID=CN124,Description="Copy number allele: 124 copies"> +##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> +##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> +##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> +##INFO=<ID=CS,Number=1,Type=String,Description="Source call set."> +##INFO=<ID=END,Number=1,Type=Integer,Description="End coordinate of this variant"> +##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> +##INFO=<ID=MC,Number=.,Type=String,Description="Merged calls."> +##INFO=<ID=MEINFO,Number=4,Type=String,Description="Mobile element info of the form NAME,START,END<POLARITY; If there is only 5' OR 3' support for this call, will be NULL NULL for START and END"> +##INFO=<ID=MEND,Number=1,Type=Integer,Description="Mitochondrial end coordinate of inserted sequence"> +##INFO=<ID=MLEN,Number=1,Type=Integer,Description="Estimated length of mitochondrial insert"> +##INFO=<ID=MSTART,Number=1,Type=Integer,Description="Mitochondrial start coordinate of inserted sequence"> +##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="SV length. It is only calculated for structural variation MEIs. For other types of SVs; one may calculate the SV length by INFO:END-START+1, or by finding the difference between lengthes of REF and ALT alleles"> +##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> +##INFO=<ID=TSD,Number=1,Type=String,Description="Precise Target Site Duplication for bases, if unknown, value will be NULL"> +##INFO=<ID=AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> +##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1)"> +##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##INFO=<ID=EAS_AF,Number=A,Type=Float,Description="Allele frequency in the EAS populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=EUR_AF,Number=A,Type=Float,Description="Allele frequency in the EUR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=AFR_AF,Number=A,Type=Float,Description="Allele frequency in the AFR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=AMR_AF,Number=A,Type=Float,Description="Allele frequency in the AMR populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=SAS_AF,Number=A,Type=Float,Description="Allele frequency in the SAS populations calculated from AC and AN, in the range (0,1)"> +##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth; only low coverage data were counted towards the DP, exome data were not used"> +##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele. Format: AA|REF|ALT|IndelType. AA: Ancestral allele, REF:Reference Allele, ALT:Alternate Allele, IndelType:Type of Indel (REF, ALT and IndelType are only defined for indels)"> +##INFO=<ID=VT,Number=.,Type=String,Description="indicates what type of variant the line represents"> +##INFO=<ID=EX_TARGET,Number=0,Type=Flag,Description="indicates whether a variant is within the exon pull down target boundaries"> +##INFO=<ID=MULTI_ALLELIC,Number=0,Type=Flag,Description="indicates whether a site is multi-allelic"> +##bcftools_viewVersion=1.9-219-ge560580+htslib-1.9-292-g997872e +##bcftools_viewCommand=view -O v -c 1 -a -S TSI genome.vcf.gz; Date=Thu Aug 8 12:42:16 2019 +##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele"> +##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR"> +##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR"> +##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR"> +##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR"> +##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR"> +##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR"> +##INFO=<ID=GWAS,Number=.,Type=String,Description="GWAS annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_P,Number=.,Type=String,Description="ORegAnno_REGULATORY_P annotation provided by ANNOVAR"> +##INFO=<ID=avsnp150,Number=.,Type=String,Description="avsnp150 annotation provided by ANNOVAR"> +##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR"> +##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR"> +##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR"> +##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR"> +##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_converted_rankscore,Number=.,Type=String,Description="SIFT_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_rankscore,Number=.,Type=String,Description="Polyphen2_HDIV_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_rankscore,Number=.,Type=String,Description="Polyphen2_HVAR_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR"> +##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR"> +##INFO=<ID=LRT_converted_rankscore,Number=.,Type=String,Description="LRT_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_converted_rankscore,Number=.,Type=String,Description="MutationTaster_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_score_rankscore,Number=.,Type=String,Description="MutationAssessor_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_converted_rankscore,Number=.,Type=String,Description="FATHMM_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_converted_rankscore,Number=.,Type=String,Description="PROVEAN_converted_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR"> +##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR"> +##INFO=<ID=VEST3_rankscore,Number=.,Type=String,Description="VEST3_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_rankscore,Number=.,Type=String,Description="MetaSVM_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_rankscore,Number=.,Type=String,Description="MetaLR_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_score,Number=.,Type=String,Description="M-CAP_score annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_rankscore,Number=.,Type=String,Description="M-CAP_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=M-CAP_pred,Number=.,Type=String,Description="M-CAP_pred annotation provided by ANNOVAR"> +##INFO=<ID=REVEL_score,Number=.,Type=String,Description="REVEL_score annotation provided by ANNOVAR"> +##INFO=<ID=REVEL_rankscore,Number=.,Type=String,Description="REVEL_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=MutPred_score,Number=.,Type=String,Description="MutPred_score annotation provided by ANNOVAR"> +##INFO=<ID=MutPred_rankscore,Number=.,Type=String,Description="MutPred_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR"> +##INFO=<ID=CADD_raw_rankscore,Number=.,Type=String,Description="CADD_raw_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR"> +##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR"> +##INFO=<ID=DANN_rankscore,Number=.,Type=String,Description="DANN_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_rankscore,Number=.,Type=String,Description="fathmm-MKL_coding_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR"> +##INFO=<ID=Eigen_coding_or_noncoding,Number=.,Type=String,Description="Eigen_coding_or_noncoding annotation provided by ANNOVAR"> +##INFO=<ID=Eigen-raw,Number=.,Type=String,Description="Eigen-raw annotation provided by ANNOVAR"> +##INFO=<ID=Eigen-PC-raw,Number=.,Type=String,Description="Eigen-PC-raw annotation provided by ANNOVAR"> +##INFO=<ID=GenoCanyon_score,Number=.,Type=String,Description="GenoCanyon_score annotation provided by ANNOVAR"> +##INFO=<ID=GenoCanyon_score_rankscore,Number=.,Type=String,Description="GenoCanyon_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR"> +##INFO=<ID=integrated_fitCons_score_rankscore,Number=.,Type=String,Description="integrated_fitCons_score_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR"> +##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR"> +##INFO=<ID=GERP++_RS_rankscore,Number=.,Type=String,Description="GERP++_RS_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phyloP100way_vertebrate,Number=.,Type=String,Description="phyloP100way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phyloP100way_vertebrate_rankscore,Number=.,Type=String,Description="phyloP100way_vertebrate_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=phyloP20way_mammalian_rankscore,Number=.,Type=String,Description="phyloP20way_mammalian_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phastCons100way_vertebrate,Number=.,Type=String,Description="phastCons100way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phastCons100way_vertebrate_rankscore,Number=.,Type=String,Description="phastCons100way_vertebrate_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=phastCons20way_mammalian_rankscore,Number=.,Type=String,Description="phastCons20way_mammalian_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR"> +##INFO=<ID=SiPhy_29way_logOdds_rankscore,Number=.,Type=String,Description="SiPhy_29way_logOdds_rankscore annotation provided by ANNOVAR"> +##INFO=<ID=Interpro_domain,Number=.,Type=String,Description="Interpro_domain annotation provided by ANNOVAR"> +##INFO=<ID=GTEx_V6p_gene,Number=.,Type=String,Description="GTEx_V6p_gene annotation provided by ANNOVAR"> +##INFO=<ID=GTEx_V6p_tissue,Number=.,Type=String,Description="GTEx_V6p_tissue annotation provided by ANNOVAR"> +##INFO=<ID=dbscSNV_ADA_SCORE,Number=.,Type=String,Description="dbscSNV_ADA_SCORE annotation provided by ANNOVAR"> +##INFO=<ID=dbscSNV_RF_SCORE,Number=.,Type=String,Description="dbscSNV_RF_SCORE annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_ALL,Number=.,Type=String,Description="ExAC_nontcga_ALL annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_AFR,Number=.,Type=String,Description="ExAC_nontcga_AFR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_AMR,Number=.,Type=String,Description="ExAC_nontcga_AMR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_EAS,Number=.,Type=String,Description="ExAC_nontcga_EAS annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_FIN,Number=.,Type=String,Description="ExAC_nontcga_FIN annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_NFE,Number=.,Type=String,Description="ExAC_nontcga_NFE annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_OTH,Number=.,Type=String,Description="ExAC_nontcga_OTH annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_nontcga_SAS,Number=.,Type=String,Description="ExAC_nontcga_SAS annotation provided by ANNOVAR"> +##INFO=<ID=AF,Number=.,Type=String,Description="AF annotation provided by ANNOVAR"> +##INFO=<ID=AF_popmax,Number=.,Type=String,Description="AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=AF_male,Number=.,Type=String,Description="AF_male annotation provided by ANNOVAR"> +##INFO=<ID=AF_female,Number=.,Type=String,Description="AF_female annotation provided by ANNOVAR"> +##INFO=<ID=AF_raw,Number=.,Type=String,Description="AF_raw annotation provided by ANNOVAR"> +##INFO=<ID=AF_afr,Number=.,Type=String,Description="AF_afr annotation provided by ANNOVAR"> +##INFO=<ID=AF_sas,Number=.,Type=String,Description="AF_sas annotation provided by ANNOVAR"> +##INFO=<ID=AF_amr,Number=.,Type=String,Description="AF_amr annotation provided by ANNOVAR"> +##INFO=<ID=AF_eas,Number=.,Type=String,Description="AF_eas annotation provided by ANNOVAR"> +##INFO=<ID=AF_nfe,Number=.,Type=String,Description="AF_nfe annotation provided by ANNOVAR"> +##INFO=<ID=AF_fin,Number=.,Type=String,Description="AF_fin annotation provided by ANNOVAR"> +##INFO=<ID=AF_asj,Number=.,Type=String,Description="AF_asj annotation provided by ANNOVAR"> +##INFO=<ID=AF_oth,Number=.,Type=String,Description="AF_oth annotation provided by ANNOVAR"> +##INFO=<ID=non_topmed_AF_popmax,Number=.,Type=String,Description="non_topmed_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=non_neuro_AF_popmax,Number=.,Type=String,Description="non_neuro_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=non_cancer_AF_popmax,Number=.,Type=String,Description="non_cancer_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=controls_AF_popmax,Number=.,Type=String,Description="controls_AF_popmax annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Atrial_Appendage,Number=.,Type=String,Description="Heart_Atrial_Appendage annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Left_Ventricle,Number=.,Type=String,Description="Heart_Left_Ventricle annotation provided by ANNOVAR"> +##INFO=<ID=ENSEMBLReg,Number=.,Type=String,Description="ENSEMBLReg annotation provided by ANNOVAR"> +##INFO=<ID=ENSTFBS,Number=.,Type=String,Description="ENSTFBS annotation provided by ANNOVAR"> +##INFO=<ID=ENSmiRNA,Number=.,Type=String,Description="ENSmiRNA annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_R,Number=.,Type=String,Description="ORegAnno_REGULATORY_R annotation provided by ANNOVAR"> +##INFO=<ID=ORegAnno_REGULATORY_TFBS,Number=.,Type=String,Description="ORegAnno_REGULATORY_TFBS annotation provided by ANNOVAR"> +##INFO=<ID=ORegmiRNA,Number=.,Type=String,Description="ORegmiRNA annotation provided by ANNOVAR"> +##INFO=<ID=nCER95,Number=.,Type=String,Description="nCER95 annotation provided by ANNOVAR"> +##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele"> +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA20502 NA20503 NA20504 NA20505 NA20506 NA20507 NA20508 NA20509 NA20510 NA20511 NA20512 NA20513 NA20514 NA20515 NA20516 NA20517 NA20518 NA20519 NA20520 NA20521 NA20522 NA20524 NA20525 NA20527 NA20528 NA20529 NA20530 NA20531 NA20532 NA20533 NA20534 NA20535 NA20536 NA20538 NA20539 NA20540 NA20541 NA20542 NA20543 NA20544 NA20581 NA20582 NA20585 NA20586 NA20587 NA20588 NA20589 NA20752 NA20753 NA20754 NA20755 NA20756 NA20757 NA20758 NA20759 NA20760 NA20761 NA20762 NA20763 NA20764 NA20765 NA20766 NA20767 NA20768 NA20769 NA20770 NA20771 NA20772 NA20773 NA20774 NA20775 NA20778 NA20783 NA20785 NA20786 NA20787 NA20790 NA20792 NA20795 NA20796 NA20797 NA20798 NA20799 NA20800 NA20801 NA20802 NA20803 NA20804 NA20805 NA20806 NA20807 NA20808 NA20809 NA20810 NA20811 NA20812 NA20813 NA20814 NA20815 NA20818 NA20819 NA20821 NA20822 NA20826 NA20827 NA20828 NA20832 +10 18429624 rs138094231 C A 100 PASS AC=11;AF=0.0301518;AN=214;NS=2504;DP=8057;EAS_AF=0.001;AMR_AF=0.0202;AFR_AF=0.0567;EUR_AF=0.0388;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.-42C>A\x3bNM_201593:c.-42C>A\x3bNM_201596:c.-42C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138094231;CLNALLELEID=188466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0423;ExAC_nontcga_AFR=0.0803;ExAC_nontcga_AMR=0.0313;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0699;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0630;ExAC_nontcga_SAS=0.0384;AF=0.0429;AF_popmax=0.0626;AF_male=0.0435;AF_female=0.0421;AF_raw=0.0431;AF_afr=0.0626;AF_sas=.;AF_amr=0.0179;AF_eas=0;AF_nfe=0.0379;AF_fin=0.0442;AF_asj=0.0207;AF_oth=0.0389;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0602;non_cancer_AF_popmax=.;controls_AF_popmax=0.0606;Kaviar_AF=0.026261;Kaviar_AC=4060;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338950;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 18429627 rs558264472 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8348;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.-39C>T\x3bNM_201593:c.-39C>T\x3bNM_201596:c.-39C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558264472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.221e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.08e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338950;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18429839 rs559931446 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNB2;GeneDetail.refGene=NM_001167945:c.-270C>T\x3bNM_201571:c.-270C>T\x3bNM_201572:c.-270C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559931446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0027;AF_popmax=0.0022;AF_male=0.0021;AF_female=0.0035;AF_raw=0.0027;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0121;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0010758;Kaviar_AC=28;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.266735;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430167 rs150534429 G C 100 PASS AC=9;AF=0.00798722;AN=214;NS=2504;DP=6978;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0288;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150534429;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0274;ExAC_nontcga_ALL=0.0130;ExAC_nontcga_AFR=0.0115;ExAC_nontcga_AMR=0.0288;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0339;ExAC_nontcga_OTH=0.0167;ExAC_nontcga_SAS=0.0053;AF=0.0105;AF_popmax=0.0135;AF_male=0.0100;AF_female=0.0112;AF_raw=0.0106;AF_afr=0.0024;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0222;AF_asj=0;AF_oth=0.0185;non_topmed_AF_popmax=0.0125;non_neuro_AF_popmax=0.0136;non_cancer_AF_popmax=.;controls_AF_popmax=0.0115;Kaviar_AF=0.0074967;Kaviar_AC=1159;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.128546;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430169 rs200606264 G T 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=7050;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0333;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200606264;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0308;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0085;AF_popmax=0.0305;AF_male=0.0093;AF_female=0.0075;AF_raw=0.0087;AF_afr=0.0305;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0304;non_neuro_AF_popmax=0.0270;non_cancer_AF_popmax=.;controls_AF_popmax=0.0304;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.128546;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18430220 rs12572321 G A 100 PASS AC=34;AF=0.107628;AN=214;NS=2504;DP=9662;EAS_AF=0.0506;AMR_AF=0.2522;AFR_AF=0.0454;EUR_AF=0.1441;SAS_AF=0.1104;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.107628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12572321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0995;AF_popmax=0.2050;AF_male=0.0975;AF_female=0.1021;AF_raw=0.0996;AF_afr=0.0587;AF_sas=.;AF_amr=0.2050;AF_eas=0.0468;AF_nfe=0.1136;AF_fin=0.1218;AF_asj=0.1;AF_oth=0.1504;non_topmed_AF_popmax=0.1968;non_neuro_AF_popmax=0.2;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0210799;Kaviar_AC=3259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025190|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511604|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.519956;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 +10 18439747 rs61545603 C T 100 PASS AC=31;AF=0.0970447;AN=214;NS=2504;DP=14502;EAS_AF=0.1091;AMR_AF=0.0548;AFR_AF=0.1051;EUR_AF=0.1173;SAS_AF=0.0828;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61545603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1121;AF_popmax=0.1245;AF_male=0.1109;AF_female=0.1136;AF_raw=0.1105;AF_afr=0.0940;AF_sas=.;AF_amr=0.0596;AF_eas=0.1245;AF_nfe=0.1121;AF_fin=0.1746;AF_asj=0.1111;AF_oth=0.107;non_topmed_AF_popmax=0.125;non_neuro_AF_popmax=0.1245;non_cancer_AF_popmax=.;controls_AF_popmax=0.1403;Kaviar_AF=0.0184862;Kaviar_AC=2858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 +10 18439784 rs537328775 CTTTTTTT C 100 PASS AC=7;AF=0.0900559;AN=214;NS=2504;DP=15767;EAS_AF=0.0476;AMR_AF=0.0663;AFR_AF=0.1944;EUR_AF=0.0348;SAS_AF=0.0665;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537328775;CLNALLELEID=512838;CLNDN=Brugada_syndrome_4;CLNDISDB=MedGen:C2678477,OMIM:611876;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0147;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0060;ExAC_nontcga_SAS=0.0010;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18439900 rs150722502 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14586;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_001167945:exon2:c.G125A:p.R42H,CACNB2:NM_201571:exon2:c.G125A:p.R42H,CACNB2:NM_201572:exon2:c.G125A:p.R42H,CACNB2:NM_201593:exon2:c.G209A:p.R70H,CACNB2:NM_201596:exon2:c.G209A:p.R70H,CACNB2:NM_201597:exon2:c.G209A:p.R70H;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150722502;CLNALLELEID=188474;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.255;Polyphen2_HVAR_rankscore=0.598;Polyphen2_HVAR_pred=B;LRT_score=0.105;LRT_converted_rankscore=0.196;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-1.79;FATHMM_converted_rankscore=0.842;FATHMM_pred=D;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.629;VEST3_rankscore=0.648;MetaSVM_score=0.310;MetaSVM_rankscore=0.877;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_rankscore=0.872;MetaLR_pred=D;M-CAP_score=0.026;M-CAP_rankscore=0.494;M-CAP_pred=D;REVEL_score=0.457;REVEL_rankscore=0.758;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.628;CADD_raw_rankscore=0.910;CADD_phred=32;DANN_score=0.998;DANN_rankscore=0.878;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.773;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.577;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=7.142;phyloP100way_vertebrate_rankscore=0.768;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=19.125;SiPhy_29way_logOdds_rankscore=0.933;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0013;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007956;Kaviar_AC=123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.971007;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18439926 rs79819217 T C 100 PASS AC=27;AF=0.0632987;AN=214;NS=2504;DP=13477;EAS_AF=0.0169;AMR_AF=0.0706;AFR_AF=0.0091;EUR_AF=0.1342;SAS_AF=0.1063;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0632987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79819217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1213;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.0250;ExAC_nontcga_AMR=0.0556;ExAC_nontcga_EAS=0.0198;ExAC_nontcga_FIN=0.0561;ExAC_nontcga_NFE=0.1308;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0874;AF=0.0724;AF_popmax=0.1094;AF_male=0.0699;AF_female=0.0756;AF_raw=0.0729;AF_afr=0.0231;AF_sas=.;AF_amr=0.0620;AF_eas=0.0263;AF_nfe=0.1094;AF_fin=0.0433;AF_asj=0.1713;AF_oth=0.0797;non_topmed_AF_popmax=0.1055;non_neuro_AF_popmax=0.1083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0926;Kaviar_AF=0.0965641;Kaviar_AC=14929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +10 18439993 rs142218357 A C 100 PASS AC=3;AF=0.00179712;AN=214;NS=2504;DP=16050;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142218357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0055;AF_male=0.0045;AF_female=0.0059;AF_raw=0.0051;AF_afr=0.0012;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0116;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18691018 rs3750592 G A 100 PASS AC=116;AF=0.391973;AN=214;NS=2504;DP=17455;EAS_AF=0.373;AMR_AF=0.389;AFR_AF=0.2322;EUR_AF=0.5219;SAS_AF=0.4959;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.391973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5115;ExAC_nontcga_ALL=0.4518;ExAC_nontcga_AFR=0.2670;ExAC_nontcga_AMR=0.3054;ExAC_nontcga_EAS=0.3479;ExAC_nontcga_FIN=0.5100;ExAC_nontcga_NFE=0.5044;ExAC_nontcga_OTH=0.4957;ExAC_nontcga_SAS=0.5015;AF=0.4339;AF_popmax=0.5037;AF_male=0.4310;AF_female=0.4376;AF_raw=0.4340;AF_afr=0.2746;AF_sas=.;AF_amr=0.3691;AF_eas=0.3502;AF_nfe=0.5037;AF_fin=0.5438;AF_asj=0.6310;AF_oth=0.4862;non_topmed_AF_popmax=0.4995;non_neuro_AF_popmax=0.5036;non_cancer_AF_popmax=.;controls_AF_popmax=0.4967;Kaviar_AF=0.0029819;Kaviar_AC=461;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.003371;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|1 1|0 0|1 0|1 0|0 1|1 0|1 1|1 0|1 1|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|0 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 1|1 1|0 1|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|0 +10 18691019 rs148465194 C A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=17506;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148465194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0044;AF_popmax=0.0073;AF_male=0.0050;AF_female=0.0035;AF_raw=0.0044;AF_afr=0.0016;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0074;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0057891;Kaviar_AC=895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.003371;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18787308 rs541253552 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19359;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon3:c.C193T:p.R65W,CACNB2:NM_001330060:exon3:c.C193T:p.R65W,CACNB2:NM_201570:exon3:c.C214T:p.R72W,CACNB2:NM_201590:exon3:c.C196T:p.R66W,CACNB2:NM_001167945:exon4:c.C274T:p.R92W,CACNB2:NM_201571:exon4:c.C274T:p.R92W,CACNB2:NM_201572:exon4:c.C274T:p.R92W,CACNB2:NM_201593:exon4:c.C358T:p.R120W,CACNB2:NM_201596:exon4:c.C358T:p.R120W,CACNB2:NM_201597:exon4:c.C358T:p.R120W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541253552;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.185;MutationAssessor_score_rankscore=0.891;MutationAssessor_pred=M;FATHMM_score=-2.05;FATHMM_converted_rankscore=0.858;FATHMM_pred=D;PROVEAN_score=-7.27;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST3_score=0.972;VEST3_rankscore=0.973;MetaSVM_score=0.920;MetaSVM_rankscore=0.960;MetaSVM_pred=D;MetaLR_score=0.849;MetaLR_rankscore=0.950;MetaLR_pred=D;M-CAP_score=0.223;M-CAP_rankscore=0.879;M-CAP_pred=D;REVEL_score=0.804;REVEL_rankscore=0.937;MutPred_score=0.536;MutPred_rankscore=0.646;CADD_raw=8.208;CADD_raw_rankscore=0.958;CADD_phred=35;DANN_score=0.997;DANN_rankscore=0.838;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.729;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.961;Eigen-PC-raw=0.884;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=4.906;phyloP100way_vertebrate_rankscore=0.628;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=CACNB2,_SH3_domain|SH3_domain\x3bSH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.771e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.101e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.512539;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +10 18787448 rs12257065 C G 100 PASS AC=1;AF=0.0792732;AN=214;NS=2504;DP=19602;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.2799;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12257065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0235;ExAC_nontcga_AFR=0.2388;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0018;AF=0.0680;AF_popmax=0.2357;AF_male=0.0706;AF_female=0.0647;AF_raw=0.0681;AF_afr=0.2357;AF_sas=.;AF_amr=0.0213;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0009;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.2347;non_neuro_AF_popmax=0.2363;non_cancer_AF_popmax=.;controls_AF_popmax=0.2282;Kaviar_AF=0.0226905;Kaviar_AC=3508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.867050;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18787485 rs143915127 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19857;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143915127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.556e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.017672;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18789724 rs4485000 T G 100 PASS AC=79;AF=0.229832;AN=214;NS=2504;DP=21130;EAS_AF=0.0377;AMR_AF=0.2464;AFR_AF=0.3699;EUR_AF=0.329;SAS_AF=0.1247;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229832;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4485000;CLNALLELEID=253715;CLNDN=Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3157;ExAC_nontcga_ALL=0.2730;ExAC_nontcga_AFR=0.3538;ExAC_nontcga_AMR=0.2782;ExAC_nontcga_EAS=0.0360;ExAC_nontcga_FIN=0.3671;ExAC_nontcga_NFE=0.3254;ExAC_nontcga_OTH=0.2565;ExAC_nontcga_SAS=0.1261;AF=0.3197;AF_popmax=0.3567;AF_male=0.3155;AF_female=0.3249;AF_raw=0.3197;AF_afr=0.3567;AF_sas=.;AF_amr=0.3050;AF_eas=0.0334;AF_nfe=0.3182;AF_fin=0.3693;AF_asj=0.2690;AF_oth=0.3208;non_topmed_AF_popmax=0.3564;non_neuro_AF_popmax=0.3626;non_cancer_AF_popmax=.;controls_AF_popmax=0.3518;Kaviar_AF=0.275165;Kaviar_AC=42541;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.425850;ALLELE_END;VINYL_score=-1 GT 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 1|0 1|1 1|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 +10 18789924 rs185330033 C G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19628;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185330033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0004;AF_popmax=0.0024;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005175;Kaviar_AC=80;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795351 rs201550574 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18293;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201550574;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.797939;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795447 rs149253719 G C 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=15889;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_001330060:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149253719;CLNALLELEID=171120;CLNDN=Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.425;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.424;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.67;FATHMM_converted_rankscore=0.828;FATHMM_pred=D;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.688;VEST3_rankscore=0.730;MetaSVM_score=-0.161;MetaSVM_rankscore=0.787;MetaSVM_pred=T;MetaLR_score=0.389;MetaLR_rankscore=0.744;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.675;M-CAP_pred=D;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.683;CADD_raw_rankscore=0.384;CADD_phred=20.7;DANN_score=0.977;DANN_rankscore=0.348;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.574;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.191;Eigen-PC-raw=0.392;GenoCanyon_score=0.607;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=7.026;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.263;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=CACNB2,_SH3_domain|SH3_domain\x3bSH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0014;AF=0.0006;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.033629;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795555 rs189773039 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189773039;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0021;AF_popmax=0.0036;AF_male=0.0021;AF_female=0.0021;AF_raw=0.0021;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.470435;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18795596 rs10741088 G A 100 PASS AC=82;AF=0.503395;AN=214;NS=2504;DP=15961;EAS_AF=0.6042;AMR_AF=0.5821;AFR_AF=0.4909;EUR_AF=0.3807;SAS_AF=0.4867;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503395;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10741088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4186;AF_popmax=0.5825;AF_male=0.4224;AF_female=0.4137;AF_raw=0.4191;AF_afr=0.4941;AF_sas=.;AF_amr=0.5071;AF_eas=0.5825;AF_nfe=0.3746;AF_fin=0.3394;AF_asj=0.3931;AF_oth=0.3948;non_topmed_AF_popmax=0.5866;non_neuro_AF_popmax=0.5825;non_cancer_AF_popmax=.;controls_AF_popmax=0.5889;Kaviar_AF=0.0555491;Kaviar_AC=8588;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.352273::0.377072;Heart_Left_Ventricle=Heart_Left_Ventricle::0.376838::0.291945;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.458555;ALLELE_END;VINYL_score=1 GT 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|0 0|0 1|0 1|1 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 +10 18803338 rs12357063 A G 100 PASS AC=4;AF=0.014377;AN=214;NS=2504;DP=21589;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0527;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12357063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0767;ExAC_nontcga_ALL=0.0454;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0634;ExAC_nontcga_NFE=0.0725;ExAC_nontcga_OTH=0.0360;ExAC_nontcga_SAS=0.0038;AF=0.0522;AF_popmax=0.0777;AF_male=0.0503;AF_female=0.0547;AF_raw=0.0523;AF_afr=0.0134;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0777;AF_fin=0.0650;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0779;non_cancer_AF_popmax=.;controls_AF_popmax=0.0788;Kaviar_AF=0.0491391;Kaviar_AC=7597;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.402466;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12357063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0767;ExAC_nontcga_ALL=0.0454;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0634;ExAC_nontcga_NFE=0.0725;ExAC_nontcga_OTH=0.0360;ExAC_nontcga_SAS=0.0038;AF=0.0522;AF_popmax=0.0777;AF_male=0.0503;AF_female=0.0547;AF_raw=0.0523;AF_afr=0.0134;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0777;AF_fin=0.0650;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0779;non_cancer_AF_popmax=.;controls_AF_popmax=0.0788;Kaviar_AF=0.0491391;Kaviar_AC=7597;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.402466;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 18804094 rs7088091 T C 100 PASS AC=86;AF=0.409545;AN=214;NS=2504;DP=18102;EAS_AF=0.7083;AMR_AF=0.304;AFR_AF=0.2874;EUR_AF=0.3718;SAS_AF=0.3804;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7088091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3616;AF_popmax=0.7219;AF_male=0.3680;AF_female=0.3536;AF_raw=0.3618;AF_afr=0.317;AF_sas=.;AF_amr=0.2866;AF_eas=0.7219;AF_nfe=0.3633;AF_fin=0.3215;AF_asj=0.3897;AF_oth=0.3610;non_topmed_AF_popmax=0.7195;non_neuro_AF_popmax=0.7219;non_cancer_AF_popmax=.;controls_AF_popmax=0.7137;Kaviar_AF=0.0725023;Kaviar_AC=11209;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325758::0.507624;Heart_Left_Ventricle=Heart_Left_Ventricle::0.321691::0.326121;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.013621;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 0|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +10 18807246 rs141915289 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21158;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141915289;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.772116;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18816565 rs76956014 G A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19201;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon9:c.G828A:p.S276S,CACNB2:NM_001330060:exon9:c.G714A:p.S238S,CACNB2:NM_201570:exon9:c.G849A:p.S283S,CACNB2:NM_201590:exon9:c.G831A:p.S277S,CACNB2:NM_001167945:exon10:c.G795A:p.S265S,CACNB2:NM_201571:exon10:c.G909A:p.S303S,CACNB2:NM_201572:exon10:c.G837A:p.S279S,CACNB2:NM_201593:exon10:c.G879A:p.S293S,CACNB2:NM_201596:exon10:c.G993A:p.S331S,CACNB2:NM_201597:exon10:c.G921A:p.S307S;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76956014;CLNALLELEID=240754;CLNDN=Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0110;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0021;AF=0.0079;AF_popmax=0.0113;AF_male=0.0079;AF_female=0.0080;AF_raw=0.0079;AF_afr=0.0053;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0113;AF_fin=0.0023;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.0107;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.182161;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18816633 rs4314963 C T 100 PASS AC=27;AF=0.239417;AN=214;NS=2504;DP=20549;EAS_AF=0.251;AMR_AF=0.3372;AFR_AF=0.1891;EUR_AF=0.16;SAS_AF=0.3078;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239417;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4314963;CLNALLELEID=253716;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.1603;ExAC_nontcga_ALL=0.2200;ExAC_nontcga_AFR=0.1940;ExAC_nontcga_AMR=0.4196;ExAC_nontcga_EAS=0.2697;ExAC_nontcga_FIN=0.1910;ExAC_nontcga_NFE=0.1575;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.2930;AF=0.1905;AF_popmax=0.3243;AF_male=0.1903;AF_female=0.1907;AF_raw=0.1905;AF_afr=0.1934;AF_sas=.;AF_amr=0.3243;AF_eas=0.2494;AF_nfe=0.1794;AF_fin=0.1770;AF_asj=0.1586;AF_oth=0.1863;non_topmed_AF_popmax=0.3296;non_neuro_AF_popmax=0.3051;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.206647;Kaviar_AC=31948;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.079948;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18822993 rs376222853 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17938;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376222853;CLNALLELEID=309978;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.771182;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18825201 rs141978206 T G 100 PASS AC=4;AF=0.0103834;AN=214;NS=2504;DP=25046;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0358;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141978206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0050715;Kaviar_AC=132;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 18825202 rs147375257;rs150214686 TGG GGG,T 100 PASS AC=4,130;AF=0.0103834,0.607827;AN=214;NS=2504;DP=24908;EAS_AF=0.001,0.6964;AMR_AF=0.0159,0.572;AFR_AF=0.0015,0.6029;EUR_AF=0.0358,0.5517;SAS_AF=0.002,0.6063;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147375257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0019978;Kaviar_AC=52;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.607827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150214686;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3220;AF_popmax=0.4945;AF_male=0.3265;AF_female=0.3160;AF_raw=0.2862;AF_afr=0.4458;AF_sas=.;AF_amr=0.3613;AF_eas=0.4945;AF_nfe=0.2460;AF_fin=0.1423;AF_asj=0.2536;AF_oth=0.2486;non_topmed_AF_popmax=0.4977;non_neuro_AF_popmax=0.4945;non_cancer_AF_popmax=.;controls_AF_popmax=0.4870;Kaviar_AF=0.0389196;Kaviar_AC=1013;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 2|2 2|2 0|0 2|2 2|2 2|2 2|2 0|0 2|0 2|0 2|2 2|0 2|2 2|2 0|2 2|2 0|2 2|0 2|0 0|0 2|2 0|0 2|0 2|2 2|2 0|0 2|2 2|0 2|2 2|2 0|2 0|2 2|2 2|0 0|2 2|2 0|2 2|0 2|2 0|2 0|2 2|2 2|0 2|2 2|2 0|2 2|0 2|2 0|2 0|2 0|0 2|2 2|0 2|0 0|2 0|0 2|0 2|0 2|0 2|0 2|2 2|2 0|0 2|0 2|2 2|2 2|2 2|0 1|2 0|2 0|0 2|2 0|0 2|2 0|0 0|2 2|2 2|0 0|0 1|2 2|2 0|0 2|2 0|2 2|2 0|2 2|0 2|2 2|0 2|2 2|0 2|2 2|0 1|2 2|0 0|0 2|0 2|0 2|0 0|0 2|0 2|2 2|0 2|0 1|2 0|0 0|2 +10 18825203 rs7098625 G T 100 PASS AC=12;AF=0.0642971;AN=214;NS=2504;DP=22691;EAS_AF=0.0744;AMR_AF=0.0807;AFR_AF=0.0643;EUR_AF=0.0616;SAS_AF=0.045;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0642971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7098625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0160;AF_popmax=0.0221;AF_male=0.0171;AF_female=0.0145;AF_raw=0.0210;AF_afr=0.0221;AF_sas=.;AF_amr=0.0185;AF_eas=0.0212;AF_nfe=0.0119;AF_fin=0.0083;AF_asj=0.025;AF_oth=0.0075;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0488704;Kaviar_AC=1272;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18825204 rs60959154 G T 100 PASS AC=12;AF=0.0642971;AN=214;NS=2504;DP=22517;EAS_AF=0.0744;AMR_AF=0.0807;AFR_AF=0.0643;EUR_AF=0.0616;SAS_AF=0.045;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0642971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60959154;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0489089;Kaviar_AC=1273;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18827336 rs186919216 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17149;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186919216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.602e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.872e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.492e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.492e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.04e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828191 rs143060134 C T 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=17451;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1356T:p.S452S,CACNB2:NM_001330060:exon13:c.C1242T:p.S414S,CACNB2:NM_201570:exon13:c.C1377T:p.S459S,CACNB2:NM_201590:exon13:c.C1359T:p.S453S,CACNB2:NM_001167945:exon14:c.C1323T:p.S441S,CACNB2:NM_201571:exon14:c.C1437T:p.S479S,CACNB2:NM_201572:exon14:c.C1365T:p.S455S,CACNB2:NM_201593:exon14:c.C1407T:p.S469S,CACNB2:NM_201596:exon14:c.C1521T:p.S507S,CACNB2:NM_201597:exon14:c.C1449T:p.S483S;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143060134;CLNALLELEID=240757;CLNDN=Brugada_syndrome_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.546;CADD_raw_rankscore=0.367;CADD_phred=19.76;DANN_score=0.795;DANN_rankscore=0.123;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.035;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.846;Eigen-PC-raw=-0.039;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-3.76;GERP++_RS_rankscore=0.041;phyloP100way_vertebrate=-0.383;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=0.125;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=1.833;SiPhy_29way_logOdds_rankscore=0.029;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0019;AF=0.0054;AF_popmax=0.0083;AF_male=0.0052;AF_female=0.0055;AF_raw=0.0054;AF_afr=0.0026;AF_sas=.;AF_amr=0.0012;AF_eas=0.0013;AF_nfe=0.0083;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0088;Kaviar_AF=0.0047994;Kaviar_AC=742;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.895652;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828230 rs150280879 T C 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18465;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1395C:p.P465P,CACNB2:NM_001330060:exon13:c.T1281C:p.P427P,CACNB2:NM_201570:exon13:c.T1416C:p.P472P,CACNB2:NM_201590:exon13:c.T1398C:p.P466P,CACNB2:NM_001167945:exon14:c.T1362C:p.P454P,CACNB2:NM_201571:exon14:c.T1476C:p.P492P,CACNB2:NM_201572:exon14:c.T1404C:p.P468P,CACNB2:NM_201593:exon14:c.T1446C:p.P482P,CACNB2:NM_201596:exon14:c.T1560C:p.P520P,CACNB2:NM_201597:exon14:c.T1488C:p.P496P;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150280879;CLNALLELEID=140350;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0016;AF_male=0.0007;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0010737;Kaviar_AC=166;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.006497;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828371 rs2228645 C T 100 PASS AC=26;AF=0.23722;AN=214;NS=2504;DP=19055;EAS_AF=0.2381;AMR_AF=0.3314;AFR_AF=0.1899;EUR_AF=0.161;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_001330060:exon13:c.C1422T:p.Y474Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y;1000g2015aug_all=0.23722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228645;CLNALLELEID=253717;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.2178;ExAC_nontcga_AFR=0.1986;ExAC_nontcga_AMR=0.4143;ExAC_nontcga_EAS=0.2380;ExAC_nontcga_FIN=0.1931;ExAC_nontcga_NFE=0.1573;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.2947;AF=0.1898;AF_popmax=0.3152;AF_male=0.1890;AF_female=0.1907;AF_raw=0.1901;AF_afr=0.1982;AF_sas=.;AF_amr=0.3152;AF_eas=0.2114;AF_nfe=0.1791;AF_fin=0.1794;AF_asj=0.1621;AF_oth=0.1863;non_topmed_AF_popmax=0.3201;non_neuro_AF_popmax=0.2982;non_cancer_AF_popmax=.;controls_AF_popmax=0.2886;Kaviar_AF=0.207184;Kaviar_AC=32031;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.755494;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828455 rs61733967 C T 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=19147;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0272;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1620T:p.H540H,CACNB2:NM_001330060:exon13:c.C1506T:p.H502H,CACNB2:NM_201570:exon13:c.C1641T:p.H547H,CACNB2:NM_201590:exon13:c.C1623T:p.H541H,CACNB2:NM_001167945:exon14:c.C1587T:p.H529H,CACNB2:NM_201571:exon14:c.C1701T:p.H567H,CACNB2:NM_201572:exon14:c.C1629T:p.H543H,CACNB2:NM_201593:exon14:c.C1671T:p.H557H,CACNB2:NM_201596:exon14:c.C1785T:p.H595H,CACNB2:NM_201597:exon14:c.C1713T:p.H571H;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61733967;CLNALLELEID=140351;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0278;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0077;AF_popmax=0.0271;AF_male=0.0080;AF_female=0.0073;AF_raw=0.0077;AF_afr=0.0271;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0293;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.214967;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828486 rs61733968 C G 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=17929;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1651G:p.R551G,CACNB2:NM_001330060:exon13:c.C1537G:p.R513G,CACNB2:NM_201570:exon13:c.C1672G:p.R558G,CACNB2:NM_201590:exon13:c.C1654G:p.R552G,CACNB2:NM_001167945:exon14:c.C1618G:p.R540G,CACNB2:NM_201571:exon14:c.C1732G:p.R578G,CACNB2:NM_201572:exon14:c.C1660G:p.R554G,CACNB2:NM_201593:exon14:c.C1702G:p.R568G,CACNB2:NM_201596:exon14:c.C1816G:p.R606G,CACNB2:NM_201597:exon14:c.C1744G:p.R582G;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61733968;CLNALLELEID=189319;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.253;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_rankscore=0.692;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.413;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_score_rankscore=0.656;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_converted_rankscore=0.828;FATHMM_pred=D;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.433;VEST3_rankscore=0.488;MetaSVM_score=0.105;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.473;MetaLR_rankscore=0.798;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.279;REVEL_rankscore=0.600;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.555;CADD_raw_rankscore=0.610;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.930;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.832;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.471;Eigen-PC-raw=0.540;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=5.051;phyloP100way_vertebrate_rankscore=0.638;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.978;phastCons20way_mammalian_rankscore=0.483;SiPhy_29way_logOdds=15.647;SiPhy_29way_logOdds_rankscore=0.767;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0170;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0018;AF=0.0100;AF_popmax=0.0162;AF_male=0.0108;AF_female=0.0089;AF_raw=0.0100;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0162;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0.0111;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0165;non_cancer_AF_popmax=.;controls_AF_popmax=0.0147;Kaviar_AF=0.0099028;Kaviar_AC=1531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.178975;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828561 rs200613235 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18527;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.A1726G:p.K576E,CACNB2:NM_001330060:exon13:c.A1612G:p.K538E,CACNB2:NM_201570:exon13:c.A1747G:p.K583E,CACNB2:NM_201590:exon13:c.A1729G:p.K577E,CACNB2:NM_001167945:exon14:c.A1693G:p.K565E,CACNB2:NM_201571:exon14:c.A1807G:p.K603E,CACNB2:NM_201572:exon14:c.A1735G:p.K579E,CACNB2:NM_201593:exon14:c.A1777G:p.K593E,CACNB2:NM_201596:exon14:c.A1891G:p.K631E,CACNB2:NM_201597:exon14:c.A1819G:p.K607E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200613235;CLNALLELEID=407845;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_converted_rankscore=0.260;LRT_pred=N;MutationTaster_score=0.604;MutationTaster_converted_rankscore=0.309;MutationTaster_pred=N;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-1.71;FATHMM_converted_rankscore=0.838;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.39;VEST3_rankscore=0.450;MetaSVM_score=0.185;MetaSVM_rankscore=0.857;MetaSVM_pred=D;MetaLR_score=0.512;MetaLR_rankscore=0.817;MetaLR_pred=D;M-CAP_score=0.053;M-CAP_rankscore=0.654;M-CAP_pred=D;REVEL_score=0.253;REVEL_rankscore=0.567;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.389;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.998;DANN_rankscore=0.874;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.616;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.086;Eigen-PC-raw=0.251;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=5.404;phyloP100way_vertebrate_rankscore=0.659;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.970;SiPhy_29way_logOdds_rankscore=0.797;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.446e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.848e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.355753;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828635 rs58225473 T G 100 PASS AC=53;AF=0.0970447;AN=214;NS=2504;DP=16792;EAS_AF=0;AMR_AF=0.1138;AFR_AF=0.0953;EUR_AF=0.1978;SAS_AF=0.0838;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1800G:p.D600E,CACNB2:NM_001330060:exon13:c.T1686G:p.D562E,CACNB2:NM_201570:exon13:c.T1821G:p.D607E,CACNB2:NM_201590:exon13:c.T1803G:p.D601E,CACNB2:NM_001167945:exon14:c.T1767G:p.D589E,CACNB2:NM_201571:exon14:c.T1881G:p.D627E,CACNB2:NM_201572:exon14:c.T1809G:p.D603E,CACNB2:NM_201593:exon14:c.T1851G:p.D617E,CACNB2:NM_201596:exon14:c.T1965G:p.D655E,CACNB2:NM_201597:exon14:c.T1893G:p.D631E;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58225473;CLNALLELEID=140352;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.460;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-1.84;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.192;VEST3_rankscore=0.235;MetaSVM_score=-0.989;MetaSVM_rankscore=0.328;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.791;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.992;DANN_rankscore=0.542;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.004;Eigen-PC-raw=0.050;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.046;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=2.76;GERP++_RS_rankscore=0.314;phyloP100way_vertebrate=1.314;phyloP100way_vertebrate_rankscore=0.330;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.057;SiPhy_29way_logOdds_rankscore=0.527;Interpro_domain=.;GTEx_V6p_gene=ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000241058.1|ENSG00000241058.1|ENSG00000240291.1|ENSG00000225527.1|ENSG00000152487.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1729;ExAC_nontcga_ALL=0.1352;ExAC_nontcga_AFR=0.1096;ExAC_nontcga_AMR=0.0741;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.1935;ExAC_nontcga_NFE=0.1832;ExAC_nontcga_OTH=0.1546;ExAC_nontcga_SAS=0.0734;AF=0.1491;AF_popmax=0.1784;AF_male=0.1468;AF_female=0.1519;AF_raw=0.1498;AF_afr=0.1056;AF_sas=.;AF_amr=0.1149;AF_eas=0.0006;AF_nfe=0.1784;AF_fin=0.2036;AF_asj=0.1424;AF_oth=0.1629;non_topmed_AF_popmax=0.1758;non_neuro_AF_popmax=0.1779;non_cancer_AF_popmax=.;controls_AF_popmax=0.1701;Kaviar_AF=0.136467;Kaviar_AC=21098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.331345;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|1 +10 18828645 rs77141223 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16461;EAS_AF=0;AMR_AF=0;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1810T:p.R604C,CACNB2:NM_001330060:exon13:c.C1696T:p.R566C,CACNB2:NM_201570:exon13:c.C1831T:p.R611C,CACNB2:NM_201590:exon13:c.C1813T:p.R605C,CACNB2:NM_001167945:exon14:c.C1777T:p.R593C,CACNB2:NM_201571:exon14:c.C1891T:p.R631C,CACNB2:NM_201572:exon14:c.C1819T:p.R607C,CACNB2:NM_201593:exon14:c.C1861T:p.R621C,CACNB2:NM_201596:exon14:c.C1975T:p.R659C,CACNB2:NM_201597:exon14:c.C1903T:p.R635C;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77141223;CLNALLELEID=188492;CLNDN=Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.333;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.339;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=-1.89;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.31;PROVEAN_converted_rankscore=0.513;PROVEAN_pred=N;VEST3_score=0.668;VEST3_rankscore=0.678;MetaSVM_score=0.412;MetaSVM_rankscore=0.893;MetaSVM_pred=D;MetaLR_score=0.656;MetaLR_rankscore=0.880;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.701;M-CAP_pred=D;REVEL_score=0.638;REVEL_rankscore=0.864;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.542;CADD_raw_rankscore=0.901;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.975;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.763;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.535;Eigen-PC-raw=0.585;GenoCanyon_score=0.428;GenoCanyon_score_rankscore=0.203;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=5.456;phyloP100way_vertebrate_rankscore=0.662;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.874;SiPhy_29way_logOdds_rankscore=0.923;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=8.951e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.749e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0032;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0032;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.267915;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 18828663 rs4747352 G T 100 PASS AC=173;AF=0.774361;AN=214;NS=2504;DP=17596;EAS_AF=0.9613;AMR_AF=0.7752;AFR_AF=0.612;EUR_AF=0.7903;SAS_AF=0.7843;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*10G>T\x3bNM_201593:c.*10G>T\x3bNM_201596:c.*10G>T\x3bNM_001167945:c.*10G>T\x3bNM_201571:c.*10G>T\x3bNM_201572:c.*10G>T\x3bNM_001330060:c.*10G>T\x3bNM_000724:c.*10G>T\x3bNM_201590:c.*10G>T\x3bNM_201570:c.*10G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.774361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4747352;CLNALLELEID=212763;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7888;ExAC_nontcga_AFR=0.6708;ExAC_nontcga_AMR=0.7680;ExAC_nontcga_EAS=0.9723;ExAC_nontcga_FIN=0.7810;ExAC_nontcga_NFE=0.7884;ExAC_nontcga_OTH=0.7953;ExAC_nontcga_SAS=0.7738;AF=0.7619;AF_popmax=0.9722;AF_male=0.7631;AF_female=0.7603;AF_raw=0.7581;AF_afr=0.6684;AF_sas=.;AF_amr=0.7556;AF_eas=0.9722;AF_nfe=0.7944;AF_fin=0.7512;AF_asj=0.7234;AF_oth=0.7734;non_topmed_AF_popmax=0.9721;non_neuro_AF_popmax=0.9722;non_cancer_AF_popmax=.;controls_AF_popmax=0.9635;Kaviar_AF=0.706356;Kaviar_AC=109204;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.244898::0.358742;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 +10 18828670 rs58830289 T C 100 PASS AC=47;AF=0.0756789;AN=214;NS=2504;DP=17609;EAS_AF=0;AMR_AF=0.1009;AFR_AF=0.0303;EUR_AF=0.1869;SAS_AF=0.0828;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17T>C\x3bNM_201593:c.*17T>C\x3bNM_201596:c.*17T>C\x3bNM_001167945:c.*17T>C\x3bNM_201571:c.*17T>C\x3bNM_201572:c.*17T>C\x3bNM_001330060:c.*17T>C\x3bNM_000724:c.*17T>C\x3bNM_201590:c.*17T>C\x3bNM_201570:c.*17T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58830289;CLNALLELEID=321059;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2565;ExAC_nontcga_AFR=0.1865;ExAC_nontcga_AMR=0.1974;ExAC_nontcga_EAS=0.0417;ExAC_nontcga_FIN=0.1985;ExAC_nontcga_NFE=0.2703;ExAC_nontcga_OTH=0.2391;ExAC_nontcga_SAS=0.2688;AF=0.1525;AF_popmax=0.1966;AF_male=0.1501;AF_female=0.1556;AF_raw=0.1110;AF_afr=0.0681;AF_sas=.;AF_amr=0.1290;AF_eas=0;AF_nfe=0.1966;AF_fin=0.2420;AF_asj=0.1667;AF_oth=0.1957;non_topmed_AF_popmax=0.1979;non_neuro_AF_popmax=0.1959;non_cancer_AF_popmax=.;controls_AF_popmax=0.1993;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 0|1 +10 21074724 rs2296614 T C 100 PASS AC=12;AF=0.0666933;AN=214;NS=2504;DP=19591;EAS_AF=0;AMR_AF=0.1052;AFR_AF=0.121;EUR_AF=0.0527;SAS_AF=0.0491;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296614;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0762;ExAC_nontcga_ALL=0.0787;ExAC_nontcga_AFR=0.1216;ExAC_nontcga_AMR=0.1645;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0569;ExAC_nontcga_NFE=0.0738;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0584;AF=0.0832;AF_popmax=0.1403;AF_male=0.0851;AF_female=0.0807;AF_raw=0.0831;AF_afr=0.1157;AF_sas=.;AF_amr=0.1403;AF_eas=0;AF_nfe=0.0777;AF_fin=0.0501;AF_asj=0.0897;AF_oth=0.0781;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.000609;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296614;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0762;ExAC_nontcga_ALL=0.0787;ExAC_nontcga_AFR=0.1216;ExAC_nontcga_AMR=0.1645;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0569;ExAC_nontcga_NFE=0.0738;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0584;AF=0.0832;AF_popmax=0.1403;AF_male=0.0851;AF_female=0.0807;AF_raw=0.0831;AF_afr=0.1157;AF_sas=.;AF_amr=0.1403;AF_eas=0;AF_nfe=0.0777;AF_fin=0.0501;AF_asj=0.0897;AF_oth=0.0781;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.000609;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 21076080 rs528583035 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22232;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528583035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.4e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.936e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076100 rs2296606 C A 100 PASS AC=12;AF=0.221845;AN=214;NS=2504;DP=21954;EAS_AF=0.2222;AMR_AF=0.1268;AFR_AF=0.4902;EUR_AF=0.0288;SAS_AF=0.1247;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0238;ExAC_nontcga_ALL=0.1213;ExAC_nontcga_AFR=0.4320;ExAC_nontcga_AMR=0.1480;ExAC_nontcga_EAS=0.2638;ExAC_nontcga_FIN=0.0299;ExAC_nontcga_NFE=0.0314;ExAC_nontcga_OTH=0.0966;ExAC_nontcga_SAS=0.1285;AF=0.1383;AF_popmax=0.4002;AF_male=0.1452;AF_female=0.1296;AF_raw=0.1387;AF_afr=0.4002;AF_sas=.;AF_amr=0.1050;AF_eas=0.2197;AF_nfe=0.0173;AF_fin=0.0256;AF_asj=0.0172;AF_oth=0.0653;non_topmed_AF_popmax=0.4004;non_neuro_AF_popmax=0.4057;non_cancer_AF_popmax=.;controls_AF_popmax=0.4064;Kaviar_AF=0.0824698;Kaviar_AC=12750;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076285 rs2697027 C G 100 PASS AC=22;AF=0.0251597;AN=214;NS=2504;DP=19811;EAS_AF=0;AMR_AF=0.0375;AFR_AF=0.0038;EUR_AF=0.0815;SAS_AF=0.0133;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0251597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2697027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0705;ExAC_nontcga_ALL=0.0482;ExAC_nontcga_AFR=0.0150;ExAC_nontcga_AMR=0.0337;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0231;ExAC_nontcga_NFE=0.0774;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0213;AF=0.0407;AF_popmax=0.0662;AF_male=0.0423;AF_female=0.0387;AF_raw=0.0407;AF_afr=0.0129;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0662;AF_fin=0.0187;AF_asj=0.0517;AF_oth=0.0358;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0667;non_cancer_AF_popmax=.;controls_AF_popmax=0.0442;Kaviar_AF=0.0441197;Kaviar_AC=6821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21076307 rs2296607 C T 100 PASS AC=64;AF=0.299521;AN=214;NS=2504;DP=20781;EAS_AF=0.4544;AMR_AF=0.2147;AFR_AF=0.0862;EUR_AF=0.3191;SAS_AF=0.4683;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2770;AF_popmax=0.4303;AF_male=0.2776;AF_female=0.2761;AF_raw=0.2771;AF_afr=0.1247;AF_sas=.;AF_amr=0.2583;AF_eas=0.4303;AF_nfe=0.3433;AF_fin=0.2703;AF_asj=0.4310;AF_oth=0.3330;non_topmed_AF_popmax=0.4332;non_neuro_AF_popmax=0.4303;non_cancer_AF_popmax=.;controls_AF_popmax=0.4278;Kaviar_AF=0.0658012;Kaviar_AC=10173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21097556 rs151012132 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16466;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon26:c.C2644T:p.R882X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151012132;CLNALLELEID=198241;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.096;LRT_converted_rankscore=0.201;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=14.964;CADD_raw_rankscore=0.998;CADD_phred=48;DANN_score=0.998;DANN_rankscore=0.901;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.780;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.971;Eigen-PC-raw=0.854;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=7.418;phyloP100way_vertebrate_rankscore=0.792;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.813;phastCons20way_mammalian_rankscore=0.340;SiPhy_29way_logOdds=20.186;SiPhy_29way_logOdds_rankscore=0.982;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.83e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.48e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.303046;ALLELE_END;VINYL_score=13 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21098878 rs372054285 G A 100 PASS AC=17;AF=0.0834665;AN=214;NS=2504;DP=16485;EAS_AF=0.1448;AMR_AF=0.0749;AFR_AF=0.0363;EUR_AF=0.0915;SAS_AF=0.0818;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0834665;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372054285;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0151;ExAC_nontcga_AMR=0.0486;ExAC_nontcga_EAS=0.0281;ExAC_nontcga_FIN=0.0210;ExAC_nontcga_NFE=0.0167;ExAC_nontcga_OTH=0.0256;ExAC_nontcga_SAS=0.0164;AF=0.0014;AF_popmax=0.0015;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0025;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0086;AF_asj=0;AF_oth=0.0058;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0027425;Kaviar_AC=424;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 21098879 rs200612536 G A 100 PASS AC=43;AF=0.226637;AN=214;NS=2504;DP=16111;EAS_AF=0.3244;AMR_AF=0.1859;AFR_AF=0.1467;EUR_AF=0.2217;SAS_AF=0.2679;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.226637;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200612536;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0073867;Kaviar_AC=1142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 +10 21101734 rs143930021 T C 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=15817;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_001173484:exon5:c.A493G:p.I165V,NEBL:NM_213569:exon5:c.A493G:p.I165V,NEBL:NM_006393:exon24:c.A2482G:p.I828V;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143930021;CLNALLELEID=54660;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.253;MutationTaster_pred=N;MutationAssessor_score=-0.75;MutationAssessor_score_rankscore=0.017;MutationAssessor_pred=N;FATHMM_score=3.73;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=0.61;PROVEAN_converted_rankscore=0.046;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.065;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.051;M-CAP_pred=T;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.155;CADD_raw_rankscore=0.080;CADD_phred=1.358;DANN_score=0.764;DANN_rankscore=0.111;fathmm-MKL_coding_score=0.491;fathmm-MKL_coding_rankscore=0.281;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.759;Eigen-PC-raw=-0.541;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.071;integrated_fitCons_score=0.537;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=2.2;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=2.318;phyloP100way_vertebrate_rankscore=0.432;phyloP20way_mammalian=-0.342;phyloP20way_mammalian_rankscore=0.072;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=7.684;SiPhy_29way_logOdds_rankscore=0.275;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0022;AF_male=0.0015;AF_female=0.0010;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001119;Kaviar_AC=173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.894752;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +10 21104492 rs561378272 C T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=17457;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561378272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21104694 rs4748727 A T 100 PASS AC=90;AF=0.558906;AN=214;NS=2504;DP=17923;EAS_AF=0.6369;AMR_AF=0.3602;AFR_AF=0.7194;EUR_AF=0.3827;SAS_AF=0.5838;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558906;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748727;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3794;ExAC_nontcga_ALL=0.4485;ExAC_nontcga_AFR=0.6732;ExAC_nontcga_AMR=0.3761;ExAC_nontcga_EAS=0.6572;ExAC_nontcga_FIN=0.2854;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.4213;ExAC_nontcga_SAS=0.5646;AF=0.4616;AF_popmax=0.6794;AF_male=0.4710;AF_female=0.4497;AF_raw=0.4613;AF_afr=0.6794;AF_sas=.;AF_amr=0.3924;AF_eas=0.6587;AF_nfe=0.3636;AF_fin=0.2939;AF_asj=0.5483;AF_oth=0.3939;non_topmed_AF_popmax=0.6802;non_neuro_AF_popmax=0.6797;non_cancer_AF_popmax=.;controls_AF_popmax=0.6802;Kaviar_AF=0.432724;Kaviar_AC=66900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 +10 21108377 rs1006363 C T 100 PASS AC=57;AF=0.183706;AN=214;NS=2504;DP=17787;EAS_AF=0.252;AMR_AF=0.219;AFR_AF=0.0204;EUR_AF=0.2992;SAS_AF=0.1902;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon20:c.G2031A:p.R677R;1000g2015aug_all=0.183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1006363;CLNALLELEID=54655;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2952;ExAC_nontcga_ALL=0.2460;ExAC_nontcga_AFR=0.0622;ExAC_nontcga_AMR=0.1575;ExAC_nontcga_EAS=0.2333;ExAC_nontcga_FIN=0.3812;ExAC_nontcga_NFE=0.2985;ExAC_nontcga_OTH=0.2637;ExAC_nontcga_SAS=0.1848;AF=0.2387;AF_popmax=0.3082;AF_male=0.2306;AF_female=0.2488;AF_raw=0.2387;AF_afr=0.0626;AF_sas=.;AF_amr=0.1792;AF_eas=0.2210;AF_nfe=0.3082;AF_fin=0.3921;AF_asj=0.1690;AF_oth=0.2644;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3080;non_cancer_AF_popmax=.;controls_AF_popmax=0.3216;Kaviar_AF=0.237397;Kaviar_AC=36702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.290753;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 +10 21112068 rs41277366 G T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18391;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0034;AF_popmax=0.0055;AF_male=0.0034;AF_female=0.0034;AF_raw=0.0034;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0058;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21112111 rs11012353 A T 100 PASS AC=55;AF=0.302117;AN=214;NS=2504;DP=17272;EAS_AF=0.4613;AMR_AF=0.2219;AFR_AF=0.18;EUR_AF=0.2644;SAS_AF=0.3988;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302117;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11012353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2187;ExAC_nontcga_ALL=0.3238;ExAC_nontcga_AFR=0.2163;ExAC_nontcga_AMR=0.2641;ExAC_nontcga_EAS=0.5263;ExAC_nontcga_FIN=0.2365;ExAC_nontcga_NFE=0.3138;ExAC_nontcga_OTH=0.2827;ExAC_nontcga_SAS=0.3920;AF=0.2575;AF_popmax=0.5084;AF_male=0.2595;AF_female=0.2549;AF_raw=0.2581;AF_afr=0.1966;AF_sas=.;AF_amr=0.2488;AF_eas=0.5084;AF_nfe=0.2739;AF_fin=0.2173;AF_asj=0.3414;AF_oth=0.2662;non_topmed_AF_popmax=0.5126;non_neuro_AF_popmax=0.5084;non_cancer_AF_popmax=.;controls_AF_popmax=0.5088;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21112137 rs4748728 A T 100 PASS AC=11;AF=0.124601;AN=214;NS=2504;DP=17379;EAS_AF=0.122;AMR_AF=0.0692;AFR_AF=0.2337;EUR_AF=0.0288;SAS_AF=0.1176;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon19:c.T1962A:p.N654K;1000g2015aug_all=0.124601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748728;CLNALLELEID=54654;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_rankscore=0.189;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_converted_rankscore=0.280;LRT_pred=N;MutationTaster_score=0.070;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.715;MutationAssessor_score_rankscore=0.797;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.07;VEST3_rankscore=0.058;MetaSVM_score=-1.054;MetaSVM_rankscore=0.133;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.904;CADD_raw_rankscore=0.410;CADD_phred=21.9;DANN_score=0.993;DANN_rankscore=0.593;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.623;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.009;Eigen-PC-raw=0.128;GenoCanyon_score=0.012;GenoCanyon_score_rankscore=0.123;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.84;GERP++_RS_rankscore=0.620;phyloP100way_vertebrate=0.915;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.031;SiPhy_29way_logOdds_rankscore=0.352;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.6236;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0224;ExAC_nontcga_ALL=0.0630;ExAC_nontcga_AFR=0.2041;ExAC_nontcga_AMR=0.0718;ExAC_nontcga_EAS=0.1247;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0235;ExAC_nontcga_OTH=0.0543;ExAC_nontcga_SAS=0.0939;AF=0.0724;AF_popmax=0.1884;AF_male=0.0765;AF_female=0.0671;AF_raw=0.0725;AF_afr=0.1884;AF_sas=.;AF_amr=0.0625;AF_eas=0.0991;AF_nfe=0.0183;AF_fin=0.0279;AF_asj=0.0139;AF_oth=0.0387;non_topmed_AF_popmax=0.1877;non_neuro_AF_popmax=0.1842;non_cancer_AF_popmax=.;controls_AF_popmax=0.1871;Kaviar_AF=0.0565517;Kaviar_AC=8743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21112258 rs145229370 A C 100 PASS AC=1;AF=0.00459265;AN=214;NS=2504;DP=15206;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0151;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145229370;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.066e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0062;AF_male=0.0015;AF_female=0.0021;AF_raw=0.0018;AF_afr=0.0062;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21115332 rs1409348 T C 100 PASS AC=91;AF=0.558307;AN=214;NS=2504;DP=16413;EAS_AF=0.6438;AMR_AF=0.366;AFR_AF=0.6936;EUR_AF=0.3867;SAS_AF=0.6002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558307;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1409348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3815;ExAC_nontcga_ALL=0.4505;ExAC_nontcga_AFR=0.6405;ExAC_nontcga_AMR=0.3803;ExAC_nontcga_EAS=0.6668;ExAC_nontcga_FIN=0.2853;ExAC_nontcga_NFE=0.3832;ExAC_nontcga_OTH=0.4280;ExAC_nontcga_SAS=0.5803;AF=0.4529;AF_popmax=0.6667;AF_male=0.4619;AF_female=0.4415;AF_raw=0.4530;AF_afr=0.6420;AF_sas=.;AF_amr=0.3957;AF_eas=0.6667;AF_nfe=0.3660;AF_fin=0.2942;AF_asj=0.5414;AF_oth=0.3959;non_topmed_AF_popmax=0.6675;non_neuro_AF_popmax=0.6667;non_cancer_AF_popmax=.;controls_AF_popmax=0.6582;Kaviar_AF=0.437006;Kaviar_AC=67562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 +10 21115347 rs71578946 A G 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16005;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0112;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71578946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0108;AF=0.0080;AF_popmax=0.0095;AF_male=0.0084;AF_female=0.0075;AF_raw=0.0080;AF_afr=0.0024;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0161;AF_asj=0.0241;AF_oth=0.0138;non_topmed_AF_popmax=0.0084;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21115491 rs192163861 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16259;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192163861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.753e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.86e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=6.378e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21117573 rs538010888 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17195;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538010888;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21120116 rs10491056 A G 100 PASS AC=74;AF=0.46905;AN=214;NS=2504;DP=18304;EAS_AF=0.5278;AMR_AF=0.2911;AFR_AF=0.6354;EUR_AF=0.3489;SAS_AF=0.4335;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.46905;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10491056;CLNALLELEID=54650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3458;ExAC_nontcga_ALL=0.3876;ExAC_nontcga_AFR=0.6071;ExAC_nontcga_AMR=0.3070;ExAC_nontcga_EAS=0.5513;ExAC_nontcga_FIN=0.2668;ExAC_nontcga_NFE=0.3456;ExAC_nontcga_OTH=0.3559;ExAC_nontcga_SAS=0.4319;AF=0.4201;AF_popmax=0.6114;AF_male=0.4273;AF_female=0.4110;AF_raw=0.4200;AF_afr=0.6114;AF_sas=.;AF_amr=0.3305;AF_eas=0.5727;AF_nfe=0.3386;AF_fin=0.2741;AF_asj=0.4759;AF_oth=0.3490;non_topmed_AF_popmax=0.6115;non_neuro_AF_popmax=0.6155;non_cancer_AF_popmax=.;controls_AF_popmax=0.6101;Kaviar_AF=0.379342;Kaviar_AC=58647;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485482|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 0|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 0|0 1|1 +10 21129588 rs41277368 T C 100 PASS AC=19;AF=0.0449281;AN=214;NS=2504;DP=17396;EAS_AF=0.0258;AMR_AF=0.0461;AFR_AF=0.0287;EUR_AF=0.0855;SAS_AF=0.044;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0662;AF_popmax=0.0742;AF_male=0.0673;AF_female=0.0648;AF_raw=0.0661;AF_afr=0.0601;AF_sas=.;AF_amr=0.0567;AF_eas=0.0284;AF_nfe=0.0742;AF_fin=0.0524;AF_asj=0.1944;AF_oth=0.0717;non_topmed_AF_popmax=0.0717;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0598;Kaviar_AF=0.0135833;Kaviar_AC=2100;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21134282 rs41277370 C G 100 PASS AC=19;AF=0.0385383;AN=214;NS=2504;DP=16267;EAS_AF=0.0268;AMR_AF=0.0461;AFR_AF=0.0053;EUR_AF=0.0835;SAS_AF=0.044;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon12:c.G1132C:p.D378H;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277370;CLNALLELEID=54641;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.912;Polyphen2_HDIV_rankscore=0.484;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_rankscore=0.621;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.362;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.9;MutationAssessor_score_rankscore=0.842;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_converted_rankscore=0.540;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_converted_rankscore=0.870;PROVEAN_pred=D;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=-0.908;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.128;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.220;REVEL_rankscore=0.520;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.403;CADD_raw_rankscore=0.732;CADD_phred=26.0;DANN_score=0.994;DANN_rankscore=0.627;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.405;Eigen-PC-raw=0.354;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.118;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.24;GERP++_RS_rankscore=0.493;phyloP100way_vertebrate=4.209;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.023;SiPhy_29way_logOdds_rankscore=0.352;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0828;ExAC_nontcga_ALL=0.0636;ExAC_nontcga_AFR=0.0178;ExAC_nontcga_AMR=0.0410;ExAC_nontcga_EAS=0.0177;ExAC_nontcga_FIN=0.0439;ExAC_nontcga_NFE=0.0824;ExAC_nontcga_OTH=0.0838;ExAC_nontcga_SAS=0.0705;AF=0.0550;AF_popmax=0.0742;AF_male=0.0557;AF_female=0.0543;AF_raw=0.0550;AF_afr=0.0212;AF_sas=.;AF_amr=0.0531;AF_eas=0.0288;AF_nfe=0.0742;AF_fin=0.0521;AF_asj=0.1931;AF_oth=0.0664;non_topmed_AF_popmax=0.0714;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0596;Kaviar_AF=0.0651544;Kaviar_AC=10073;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000273|hsa-miR-216a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.362963;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21139389 rs4025981 T C 100 PASS AC=19;AF=0.038738;AN=214;NS=2504;DP=19089;EAS_AF=0.0268;AMR_AF=0.0461;AFR_AF=0.0053;EUR_AF=0.0835;SAS_AF=0.045;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon11:c.A1051G:p.M351V;1000g2015aug_all=0.038738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4025981;CLNALLELEID=54638;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.091;SIFT_converted_rankscore=0.318;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_rankscore=0.163;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.26;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.306;VEST3_rankscore=0.366;MetaSVM_score=-0.988;MetaSVM_rankscore=0.332;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.004;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.032;CADD_raw_rankscore=0.193;CADD_phred=10.84;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_rankscore=0.343;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.170;Eigen-PC-raw=-0.061;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.078;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=1.850;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.113;phyloP20way_mammalian_rankscore=0.207;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=9.009;SiPhy_29way_logOdds_rankscore=0.351;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0834;ExAC_nontcga_ALL=0.0634;ExAC_nontcga_AFR=0.0169;ExAC_nontcga_AMR=0.0408;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0434;ExAC_nontcga_NFE=0.0826;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.0703;AF=0.0553;AF_popmax=0.0741;AF_male=0.0560;AF_female=0.0544;AF_raw=0.0553;AF_afr=0.0217;AF_sas=.;AF_amr=0.0531;AF_eas=0.0289;AF_nfe=0.0741;AF_fin=0.0524;AF_asj=0.1931;AF_oth=0.0683;non_topmed_AF_popmax=0.0713;non_neuro_AF_popmax=0.0742;non_cancer_AF_popmax=.;controls_AF_popmax=0.0596;Kaviar_AF=0.0653226;Kaviar_AC=10099;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.175997;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +10 21141398 rs41277372 G A 100 PASS AC=5;AF=0.0119808;AN=214;NS=2504;DP=15334;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0358;SAS_AF=0.0133;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0301;AF_popmax=0.0428;AF_male=0.0289;AF_female=0.0317;AF_raw=0.0301;AF_afr=0.0091;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0428;AF_fin=0.0415;AF_asj=0.0034;AF_oth=0.0312;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0429;non_cancer_AF_popmax=.;controls_AF_popmax=0.0354;Kaviar_AF=0.0073414;Kaviar_AC=1135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 21141429 rs371793018 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371793018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0007;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0006;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007374;Kaviar_AC=114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21141440 rs3831100 AG A 100 PASS AC=53;AF=0.252796;AN=214;NS=2504;DP=15176;EAS_AF=0.4296;AMR_AF=0.1427;AFR_AF=0.0953;EUR_AF=0.2565;SAS_AF=0.3579;AA=GGG|GGG|GG|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3831100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2555;ExAC_nontcga_ALL=0.2565;ExAC_nontcga_AFR=0.1306;ExAC_nontcga_AMR=0.1447;ExAC_nontcga_EAS=0.4671;ExAC_nontcga_FIN=0.2157;ExAC_nontcga_NFE=0.2538;ExAC_nontcga_OTH=0.2384;ExAC_nontcga_SAS=0.3291;AF=0.2234;AF_popmax=0.4709;AF_male=0.2268;AF_female=0.2192;AF_raw=0.2242;AF_afr=0.1233;AF_sas=.;AF_amr=0.1655;AF_eas=0.4709;AF_nfe=0.2585;AF_fin=0.2134;AF_asj=0.2308;AF_oth=0.2514;non_topmed_AF_popmax=0.4742;non_neuro_AF_popmax=0.4709;non_cancer_AF_popmax=.;controls_AF_popmax=0.4592;Kaviar_AF=0.210573;Kaviar_AC=32555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 +10 21141469 rs703089 T C 100 PASS AC=214;AF=0.952476;AN=214;NS=2504;DP=14034;EAS_AF=0.9117;AMR_AF=0.8357;AFR_AF=0.9811;EUR_AF=0.998;SAS_AF=0.9918;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.952476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703089;CLNALLELEID=54637;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9683;ExAC_nontcga_AFR=0.9807;ExAC_nontcga_AMR=0.7922;ExAC_nontcga_EAS=0.9170;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9885;ExAC_nontcga_SAS=0.9893;AF=0.9844;AF_popmax=0.9997;AF_male=0.9842;AF_female=0.9846;AF_raw=0.9843;AF_afr=0.9823;AF_sas=.;AF_amr=0.8298;AF_eas=0.8907;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9835;non_topmed_AF_popmax=0.9996;non_neuro_AF_popmax=0.9997;non_cancer_AF_popmax=.;controls_AF_popmax=0.9998;Kaviar_AF=0.927161;Kaviar_AC=143341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 21147144 rs2281883 G A 100 PASS AC=2;AF=0.0543131;AN=214;NS=2504;DP=19599;EAS_AF=0.1151;AMR_AF=0.0447;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.1166;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2281883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0549;ExAC_nontcga_EAS=0.1177;ExAC_nontcga_FIN=0.0145;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0933;AF=0.0118;AF_popmax=0.0899;AF_male=0.0120;AF_female=0.0116;AF_raw=0.0118;AF_afr=0.0028;AF_sas=.;AF_amr=0.0413;AF_eas=0.0899;AF_nfe=0.0063;AF_fin=0.0150;AF_asj=0;AF_oth=0.0211;non_topmed_AF_popmax=0.0888;non_neuro_AF_popmax=0.0899;non_cancer_AF_popmax=.;controls_AF_popmax=0.0862;Kaviar_AF=0.0286413;Kaviar_AC=4428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247684|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +10 21148584 rs4748729 C A 100 PASS AC=141;AF=0.502995;AN=214;NS=2504;DP=14159;EAS_AF=0.3909;AMR_AF=0.5994;AFR_AF=0.3737;EUR_AF=0.6511;SAS_AF=0.5726;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.502995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4748729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5686;AF_popmax=0.6575;AF_male=0.5603;AF_female=0.5791;AF_raw=0.5677;AF_afr=0.3862;AF_sas=.;AF_amr=0.5607;AF_eas=0.3230;AF_nfe=0.6575;AF_fin=0.7265;AF_asj=0.5414;AF_oth=0.6308;non_topmed_AF_popmax=0.6620;non_neuro_AF_popmax=0.6583;non_cancer_AF_popmax=.;controls_AF_popmax=0.6764;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247684|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|0 +10 21157673 rs137973321 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15149;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon7:c.G604A:p.G202R;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137973321;CLNALLELEID=54665;CLNDN=Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.461;SIFT_converted_rankscore=0.223;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.381;LRT_pred=N;MutationTaster_score=0.512;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.6;MutationAssessor_score_rankscore=0.409;MutationAssessor_pred=L;FATHMM_score=3.61;FATHMM_converted_rankscore=0.164;FATHMM_pred=T;PROVEAN_score=-0.48;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.578;VEST3_rankscore=0.706;MetaSVM_score=-1.042;MetaSVM_rankscore=0.166;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.108;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.231;M-CAP_pred=T;REVEL_score=0.188;REVEL_rankscore=0.469;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.566;CADD_raw_rankscore=0.370;CADD_phred=19.89;DANN_score=0.813;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.778;fathmm-MKL_coding_rankscore=0.380;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.292;Eigen-PC-raw=-0.084;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.095;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=1.589;phyloP100way_vertebrate_rankscore=0.360;phyloP20way_mammalian=0.866;phyloP20way_mammalian_rankscore=0.377;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=8.948;SiPhy_29way_logOdds_rankscore=0.347;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0017;AF_popmax=0.0022;AF_male=0.0013;AF_female=0.0021;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0015;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.084069;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21157763 rs554481624;rs569692534 CAA CA,C 100 PASS AC=159,17;AF=0.624002,0.102835;AN=214;NS=2504;DP=18937;EAS_AF=0.624,0.1101;AMR_AF=0.6441,0.0908;AFR_AF=0.5136,0.0613;EUR_AF=0.7336,0.1213;SAS_AF=0.6462,0.1411;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569692534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0348;AF_male=0.0134;AF_female=0.0121;AF_raw=0.0239;AF_afr=0.0030;AF_sas=.;AF_amr=0.0348;AF_eas=0.0033;AF_nfe=0.0097;AF_fin=0.0704;AF_asj=0.0208;AF_oth=0.0221;non_topmed_AF_popmax=0.0349;non_neuro_AF_popmax=0.0276;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|2 1|1 1|1 1|1 1|1 1|0 2|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|2 1|0 1|0 1|1 2|1 1|0 1|0 2|1 1|0 1|2 2|1 1|0 1|2 1|0 0|1 1|0 1|1 0|1 0|1 1|0 1|1 0|1 1|2 2|1 1|1 1|1 1|1 1|1 2|1 1|0 1|1 1|1 1|0 1|2 2|1 0|1 1|1 1|1 1|2 1|0 1|0 2|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|2 1|0 1|1 1|2 1|0 1|0 1|1 +10 21157774 rs201628197 AAAAT A 100 PASS AC=1;AF=0.0517173;AN=214;NS=2504;DP=16795;EAS_AF=0.0308;AMR_AF=0.0173;AFR_AF=0.1604;EUR_AF=0.003;SAS_AF=0.001;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0517173;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201628197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0442;AF_popmax=0.1518;AF_male=0.0457;AF_female=0.0422;AF_raw=0.0450;AF_afr=0.1518;AF_sas=.;AF_amr=0.0119;AF_eas=0.0264;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0035;AF_oth=0.0129;non_topmed_AF_popmax=0.1514;non_neuro_AF_popmax=0.1637;non_cancer_AF_popmax=.;controls_AF_popmax=0.1589;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21158728 rs71541562 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16714;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon6:c.G523A:p.A175T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71541562;CLNALLELEID=459936;CLNDN=Primary_dilated_cardiomyopathy;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.877;SIFT_converted_rankscore=0.026;SIFT_pred=T;Polyphen2_HDIV_score=0.057;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.154;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.407;LRT_pred=D;MutationTaster_score=0.932;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=3.63;FATHMM_converted_rankscore=0.149;FATHMM_pred=T;PROVEAN_score=1.13;PROVEAN_converted_rankscore=0.013;PROVEAN_pred=N;VEST3_score=0.386;VEST3_rankscore=0.446;MetaSVM_score=-1.052;MetaSVM_rankscore=0.139;MetaSVM_pred=T;MetaLR_score=0.034;MetaLR_rankscore=0.145;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.316;M-CAP_pred=T;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.228;CADD_raw_rankscore=0.213;CADD_phred=11.89;DANN_score=0.101;DANN_rankscore=0.001;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.654;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.311;Eigen-PC-raw=-0.165;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=5.752;phyloP100way_vertebrate_rankscore=0.682;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.025;phastCons20way_mammalian_rankscore=0.141;SiPhy_29way_logOdds=20.439;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.962e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.313243;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21176945 rs703100 G A 100 PASS AC=196;AF=0.886981;AN=214;NS=2504;DP=17152;EAS_AF=0.8819;AMR_AF=0.7781;AFR_AF=0.8805;EUR_AF=0.9155;SAS_AF=0.9489;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.886981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9031;AF_popmax=0.9243;AF_male=0.9012;AF_female=0.9055;AF_raw=0.9030;AF_afr=0.8730;AF_sas=.;AF_amr=0.7630;AF_eas=0.8646;AF_nfe=0.9243;AF_fin=0.9467;AF_asj=0.7517;AF_oth=0.9098;non_topmed_AF_popmax=0.9271;non_neuro_AF_popmax=0.9242;non_cancer_AF_popmax=.;controls_AF_popmax=0.9387;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000942099|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +10 21177128 rs147622517 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=15480;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NEBL:NM_006393:exon4:c.C267G:p.Y89X;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147622517;CLNALLELEID=174916;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=9.147;CADD_raw_rankscore=0.961;CADD_phred=35;DANN_score=0.994;DANN_rankscore=0.608;fathmm-MKL_coding_score=0.795;fathmm-MKL_coding_rankscore=0.391;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.240;Eigen-PC-raw=0.112;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.311;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.08;GERP++_RS_rankscore=0.467;phyloP100way_vertebrate=1.777;phyloP100way_vertebrate_rankscore=0.380;phyloP20way_mammalian=-0.232;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.313;SiPhy_29way_logOdds_rankscore=0.597;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0036;AF_male=0.0020;AF_female=0.0010;AF_raw=0.0015;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0013066;Kaviar_AC=202;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000942099|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.406572;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21177143 rs560140738;rs71578979 GA GAA,G 100 PASS AC=1,2;AF=0.0670927,0.0111821;AN=214;NS=2504;DP=17882;EAS_AF=0.0288,0;AMR_AF=0.0144,0.0029;AFR_AF=0.2201,0.0356;EUR_AF=0.003,0.004;SAS_AF=0.0031,0.0031;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71578979;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0329;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0020;AF=0.0151;AF_popmax=0.0442;AF_male=0.0145;AF_female=0.0159;AF_raw=0.0106;AF_afr=0.0442;AF_sas=.;AF_amr=0.0066;AF_eas=0.0007;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0045;non_topmed_AF_popmax=0.0445;non_neuro_AF_popmax=0.0481;non_cancer_AF_popmax=.;controls_AF_popmax=0.0452;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21177156 rs67288319 GA G 100 PASS AC=141;AF=0.540535;AN=214;NS=2504;DP=15248;EAS_AF=0.3998;AMR_AF=0.6167;AFR_AF=0.4992;EUR_AF=0.6511;SAS_AF=0.5736;AA=AAAAAAA|AAAAAAA|AAAAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540535;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67288319;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6444;ExAC_nontcga_ALL=0.6135;ExAC_nontcga_AFR=0.5028;ExAC_nontcga_AMR=0.5965;ExAC_nontcga_EAS=0.4172;ExAC_nontcga_FIN=0.7378;ExAC_nontcga_NFE=0.6557;ExAC_nontcga_OTH=0.6460;ExAC_nontcga_SAS=0.5807;AF=0.5955;AF_popmax=0.6548;AF_male=0.5876;AF_female=0.6056;AF_raw=0.5943;AF_afr=0.4875;AF_sas=.;AF_amr=0.5632;AF_eas=0.3398;AF_nfe=0.6548;AF_fin=0.7248;AF_asj=0.4862;AF_oth=0.6332;non_topmed_AF_popmax=0.6599;non_neuro_AF_popmax=0.6557;non_cancer_AF_popmax=.;controls_AF_popmax=0.6747;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 0|0 +10 21178948 rs74123535 A T 100 PASS AC=1;AF=0.0181709;AN=214;NS=2504;DP=20388;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0643;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74123535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0162;AF_popmax=0.0568;AF_male=0.0160;AF_female=0.0164;AF_raw=0.0163;AF_afr=0.0568;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0591;non_cancer_AF_popmax=.;controls_AF_popmax=0.0580;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21185821 rs788971 A C 100 PASS AC=214;AF=0.923522;AN=214;NS=2504;DP=14142;EAS_AF=0.9067;AMR_AF=0.8256;AFR_AF=0.8835;EUR_AF=0.996;SAS_AF=0.9898;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.923522;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs788971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9600;AF_popmax=0.9957;AF_male=0.9594;AF_female=0.9608;AF_raw=0.9599;AF_afr=0.9035;AF_sas=.;AF_amr=0.8208;AF_eas=0.8900;AF_nfe=0.9957;AF_fin=0.9994;AF_asj=1;AF_oth=0.9787;non_topmed_AF_popmax=0.9949;non_neuro_AF_popmax=0.9960;non_cancer_AF_popmax=.;controls_AF_popmax=0.9971;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 21185931 rs140734883 A G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17526;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon2:c.T109C:p.L37L;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140734883;CLNALLELEID=54639;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0133;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0026;AF=0.0023;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0028;AF_raw=0.0023;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0121;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0017788;Kaviar_AC=275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.387050;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21185974 rs199531054 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17027;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199531054;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199531054;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21250698 rs201889441 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20623;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_001173484:exon4:c.A260G:p.K87R,NEBL:NM_213569:exon4:c.A260G:p.K87R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201889441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.424;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_rankscore=0.181;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.973;MutationTaster_converted_rankscore=0.255;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.05;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-1.0;PROVEAN_converted_rankscore=0.264;PROVEAN_pred=N;VEST3_score=0.104;VEST3_rankscore=0.120;MetaSVM_score=-0.970;MetaSVM_rankscore=0.372;MetaSVM_pred=T;MetaLR_score=0.182;MetaLR_rankscore=0.530;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.320;M-CAP_pred=T;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.461;CADD_raw_rankscore=0.357;CADD_phred=19.22;DANN_score=0.996;DANN_rankscore=0.716;fathmm-MKL_coding_score=0.838;fathmm-MKL_coding_rankscore=0.426;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.095;Eigen-PC-raw=0.105;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.644;integrated_fitCons_score_rankscore=0.439;integrated_confidence_value=0;GERP++_RS=5.42;GERP++_RS_rankscore=0.786;phyloP100way_vertebrate=4.222;phyloP100way_vertebrate_rankscore=0.581;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.761;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.241792;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21309211 rs144925755 C T 100 PASS AC=5;AF=0.00539137;AN=214;NS=2504;DP=21144;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0229;SAS_AF=0.002;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144925755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0138;AF_popmax=0.0163;AF_male=0.0136;AF_female=0.0142;AF_raw=0.0138;AF_afr=0.0024;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0362;AF_asj=0.0310;AF_oth=0.0166;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 21461232 rs35856892 G A 100 PASS AC=30;AF=0.230232;AN=214;NS=2504;DP=19542;EAS_AF=0.3562;AMR_AF=0.1484;AFR_AF=0.1936;EUR_AF=0.168;SAS_AF=0.272;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35856892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1833;AF_popmax=0.3628;AF_male=0.1877;AF_female=0.1777;AF_raw=0.1836;AF_afr=0.1896;AF_sas=.;AF_amr=0.1333;AF_eas=0.3628;AF_nfe=0.1573;AF_fin=0.2103;AF_asj=0.2257;AF_oth=0.1866;non_topmed_AF_popmax=0.3620;non_neuro_AF_popmax=0.3628;non_cancer_AF_popmax=.;controls_AF_popmax=0.3501;Kaviar_AF=0.0331173;Kaviar_AC=5120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 +10 21461237 rs145969390 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145969390;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21461410 rs11413698 G GA 100 PASS AC=53;AF=0.353634;AN=214;NS=2504;DP=24336;EAS_AF=0.4881;AMR_AF=0.2147;AFR_AF=0.4304;EUR_AF=0.2406;SAS_AF=0.3262;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.353634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11413698;CLNALLELEID=174922;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2569;ExAC_nontcga_AFR=0.3239;ExAC_nontcga_AMR=0.1913;ExAC_nontcga_EAS=0.3876;ExAC_nontcga_FIN=0.2419;ExAC_nontcga_NFE=0.2169;ExAC_nontcga_OTH=0.2927;ExAC_nontcga_SAS=0.3241;AF=0.3048;AF_popmax=0.5269;AF_male=0.3082;AF_female=0.3005;AF_raw=0.2575;AF_afr=0.4091;AF_sas=.;AF_amr=0.2367;AF_eas=0.5269;AF_nfe=0.2050;AF_fin=0.3898;AF_asj=0.2913;AF_oth=0.2639;non_topmed_AF_popmax=0.5283;non_neuro_AF_popmax=0.5269;non_cancer_AF_popmax=.;controls_AF_popmax=0.5137;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.993913;ALLELE_END;VINYL_score=3 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 +10 21462769 rs141707642 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=7578;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.005;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-7C>T\x3bNM_213569:c.-7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141707642;CLNALLELEID=57800;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0281;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0045;ExAC_nontcga_SAS=0.0237;AF=0.0097;AF_popmax=0.0267;AF_male=0.0100;AF_female=0.0093;AF_raw=0.0097;AF_afr=0.0267;AF_sas=.;AF_amr=0.0048;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0038;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0268;non_neuro_AF_popmax=0.0298;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0074902;Kaviar_AC=1158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485481|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.265883;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 21462878 rs369040992 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=6559;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.005;SAS_AF=0.0368;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_001173484:c.-116C>T\x3bNM_213569:c.-116C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369040992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0099;AF_popmax=0.0271;AF_male=0.0102;AF_female=0.0095;AF_raw=0.0098;AF_afr=0.0271;AF_sas=.;AF_amr=0.0051;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0037;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0273;non_neuro_AF_popmax=0.0303;non_cancer_AF_popmax=.;controls_AF_popmax=0.0294;Kaviar_AF=0.0009961;Kaviar_AC=154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485481|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 67726514 rs2105702 A C 100 PASS AC=56;AF=0.352636;AN=214;NS=2504;DP=18144;EAS_AF=0.3899;AMR_AF=0.4669;AFR_AF=0.3079;EUR_AF=0.2644;SAS_AF=0.3845;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2105702;CLNALLELEID=503660;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0057;dbscSNV_RF_SCORE=0.262;esp6500siv2_ea=0.3110;ExAC_nontcga_ALL=0.3479;ExAC_nontcga_AFR=0.3210;ExAC_nontcga_AMR=0.5110;ExAC_nontcga_EAS=0.4061;ExAC_nontcga_FIN=0.3695;ExAC_nontcga_NFE=0.3021;ExAC_nontcga_OTH=0.3107;ExAC_nontcga_SAS=0.3684;AF=0.3295;AF_popmax=0.4716;AF_male=0.3271;AF_female=0.3326;AF_raw=0.3296;AF_afr=0.3207;AF_sas=.;AF_amr=0.4716;AF_eas=0.4086;AF_nfe=0.3131;AF_fin=0.3675;AF_asj=0.2034;AF_oth=0.3210;non_topmed_AF_popmax=0.4777;non_neuro_AF_popmax=0.4291;non_cancer_AF_popmax=.;controls_AF_popmax=0.3952;Kaviar_AF=0.334142;Kaviar_AC=51659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 1|0 +10 67748412 rs188672725 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16624;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188672725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.768403;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68040240 rs10997034 G T 100 PASS AC=4;AF=0.0690895;AN=214;NS=2504;DP=17564;EAS_AF=0.0456;AMR_AF=0.0115;AFR_AF=0.1392;EUR_AF=0.0119;SAS_AF=0.0982;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.C1872A:p.V624V,CTNNA3:NM_013266:exon13:c.C1872A:p.V624V;1000g2015aug_all=0.0690895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997034;CLNALLELEID=397545;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified;CLNDISDB=MedGen:C3810138,OMIM:615616|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0391;ExAC_nontcga_AFR=0.1091;ExAC_nontcga_AMR=0.0105;ExAC_nontcga_EAS=0.0489;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0210;ExAC_nontcga_OTH=0.0318;ExAC_nontcga_SAS=0.0878;AF=0.0438;AF_popmax=0.1080;AF_male=0.0444;AF_female=0.0430;AF_raw=0.0438;AF_afr=0.1080;AF_sas=.;AF_amr=0.0236;AF_eas=0.0579;AF_nfe=0.0164;AF_fin=0.0060;AF_asj=0.0793;AF_oth=0.0239;non_topmed_AF_popmax=0.1079;non_neuro_AF_popmax=0.1132;non_cancer_AF_popmax=.;controls_AF_popmax=0.1128;Kaviar_AF=0.0360862;Kaviar_AC=5579;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.558760;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +10 68040325 rs4548513 C T 100 PASS AC=80;AF=0.485024;AN=214;NS=2504;DP=17605;EAS_AF=0.4187;AMR_AF=0.4121;AFR_AF=0.7269;EUR_AF=0.3748;SAS_AF=0.3916;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;1000g2015aug_all=0.485024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4548513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.421;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.095;MutationAssessor_score_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_converted_rankscore=0.361;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.935;MetaSVM_rankscore=0.434;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.030;REVEL_rankscore=0.073;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.202;CADD_raw_rankscore=0.113;CADD_phred=4.704;DANN_score=0.115;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.126;Eigen-PC-raw=-0.882;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=0.986;phyloP100way_vertebrate_rankscore=0.290;phyloP20way_mammalian=0.090;phyloP20way_mammalian_rankscore=0.195;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.295;phastCons20way_mammalian_rankscore=0.236;SiPhy_29way_logOdds=7.512;SiPhy_29way_logOdds_rankscore=0.266;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3621;ExAC_nontcga_ALL=0.4129;ExAC_nontcga_AFR=0.6803;ExAC_nontcga_AMR=0.4054;ExAC_nontcga_EAS=0.4347;ExAC_nontcga_FIN=0.4362;ExAC_nontcga_NFE=0.3745;ExAC_nontcga_OTH=0.3772;ExAC_nontcga_SAS=0.3790;AF=0.4818;AF_popmax=0.6832;AF_male=0.4813;AF_female=0.4824;AF_raw=0.4815;AF_afr=0.6832;AF_sas=.;AF_amr=0.4218;AF_eas=0.4567;AF_nfe=0.3875;AF_fin=0.4446;AF_asj=0.4310;AF_oth=0.4208;non_topmed_AF_popmax=0.6814;non_neuro_AF_popmax=0.6826;non_cancer_AF_popmax=.;controls_AF_popmax=0.6772;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.280767;ALLELE_END;VINYL_score=0.5 GT 0|1 0|1 0|0 1|0 1|0 1|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|1 +10 68139038 rs139378888 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon12:c.G1604A:p.R535H,CTNNA3:NM_013266:exon12:c.G1604A:p.R535H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139378888;CLNALLELEID=397546;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.35;MutationAssessor_score_rankscore=0.336;MutationAssessor_pred=L;FATHMM_score=1.19;FATHMM_converted_rankscore=0.376;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_converted_rankscore=0.540;PROVEAN_pred=N;VEST3_score=0.763;VEST3_rankscore=0.756;MetaSVM_score=-0.833;MetaSVM_rankscore=0.531;MetaSVM_pred=T;MetaLR_score=0.207;MetaLR_rankscore=0.566;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.375;M-CAP_pred=T;REVEL_score=0.207;REVEL_rankscore=0.500;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.955;CADD_raw_rankscore=0.532;CADD_phred=23.6;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.751;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.702;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=6.175;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=17.477;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.369e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.468039;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68139039 rs41274090 G A 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=18016;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0038;EUR_AF=0.006;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon12:c.C1603T:p.R535C,CTNNA3:NM_013266:exon12:c.C1603T:p.R535C;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274090;CLNALLELEID=240825;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.218;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.005;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=1.19;FATHMM_converted_rankscore=0.376;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.353;VEST3_rankscore=0.414;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.437;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.211;REVEL_rankscore=0.507;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.125;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.663;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.682;Eigen-PC-raw=0.656;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.311;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=4.753;phyloP100way_vertebrate_rankscore=0.616;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.984;phastCons20way_mammalian_rankscore=0.507;SiPhy_29way_logOdds=17.477;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0165;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0089;AF=0.0104;AF_popmax=0.0135;AF_male=0.0107;AF_female=0.0101;AF_raw=0.0104;AF_afr=0.0042;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0144;AF_asj=0.0621;AF_oth=0.0101;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0150;Kaviar_AF=0.0114552;Kaviar_AC=1771;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.468039;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68139142 rs12761828 G A 100 PASS AC=39;AF=0.0940495;AN=214;NS=2504;DP=17785;EAS_AF=0.0506;AMR_AF=0.1023;AFR_AF=0.0136;EUR_AF=0.1511;SAS_AF=0.183;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0940495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12761828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1845;ExAC_nontcga_ALL=0.1579;ExAC_nontcga_AFR=0.0325;ExAC_nontcga_AMR=0.1296;ExAC_nontcga_EAS=0.0765;ExAC_nontcga_FIN=0.1802;ExAC_nontcga_NFE=0.1771;ExAC_nontcga_OTH=0.2347;ExAC_nontcga_SAS=0.2083;AF=0.1304;AF_popmax=0.1746;AF_male=0.1289;AF_female=0.1324;AF_raw=0.1305;AF_afr=0.0379;AF_sas=.;AF_amr=0.1403;AF_eas=0.0615;AF_nfe=0.1746;AF_fin=0.1754;AF_asj=0.2724;AF_oth=0.1544;non_topmed_AF_popmax=0.1781;non_neuro_AF_popmax=0.1757;non_cancer_AF_popmax=.;controls_AF_popmax=0.1777;Kaviar_AF=0.15254;Kaviar_AC=23583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945668|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68381592 rs150747678 T C 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=16105;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150747678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0021;AF_popmax=0.0038;AF_male=0.0024;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0038;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0026002;Kaviar_AC=402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68381615 rs547658948 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16346;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547658948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68535233 rs201966934 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17416;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon8:c.T1097C:p.M366T,CTNNA3:NM_013266:exon8:c.T1097C:p.M366T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201966934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.546;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.917;Polyphen2_HVAR_rankscore=0.677;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1.76;MutationAssessor_score_rankscore=0.459;MutationAssessor_pred=L;FATHMM_score=1.22;FATHMM_converted_rankscore=0.370;FATHMM_pred=T;PROVEAN_score=-4.12;PROVEAN_converted_rankscore=0.750;PROVEAN_pred=D;VEST3_score=0.943;VEST3_rankscore=0.938;MetaSVM_score=-0.595;MetaSVM_rankscore=0.651;MetaSVM_pred=T;MetaLR_score=0.239;MetaLR_rankscore=0.607;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.608;M-CAP_pred=D;REVEL_score=0.600;REVEL_rankscore=0.844;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.979;CADD_raw_rankscore=0.418;CADD_phred=22.2;DANN_score=0.994;DANN_rankscore=0.641;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.922;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.896;Eigen-PC-raw=0.892;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.347;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=9.143;phyloP100way_vertebrate_rankscore=0.938;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.758;SiPhy_29way_logOdds_rankscore=0.691;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.426e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731773;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68979342 rs558216245 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17989;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558216245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 68979343 rs4745933 C G 100 PASS AC=14;AF=0.187899;AN=214;NS=2504;DP=18026;EAS_AF=0.1448;AMR_AF=0.1167;AFR_AF=0.3964;EUR_AF=0.1074;SAS_AF=0.0838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.187899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4745933;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1072;ExAC_nontcga_ALL=0.1285;ExAC_nontcga_AFR=0.3518;ExAC_nontcga_AMR=0.0673;ExAC_nontcga_EAS=0.1405;ExAC_nontcga_FIN=0.1188;ExAC_nontcga_NFE=0.1136;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.0851;AF=0.1862;AF_popmax=0.3610;AF_male=0.1850;AF_female=0.1876;AF_raw=0.1866;AF_afr=0.3610;AF_sas=.;AF_amr=0.0896;AF_eas=0.1506;AF_nfe=0.1162;AF_fin=0.1249;AF_asj=0.0724;AF_oth=0.1347;non_topmed_AF_popmax=0.3609;non_neuro_AF_popmax=0.3557;non_cancer_AF_popmax=.;controls_AF_popmax=0.3523;Kaviar_AF=0.12496;Kaviar_AC=19319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +10 68979636 rs141983252 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17519;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141983252;CLNALLELEID=240827;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0035;AF_male=0.0012;AF_female=0.0018;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015071;Kaviar_AC=233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.575495;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281585 rs10997691 A C 100 PASS AC=18;AF=0.187101;AN=214;NS=2504;DP=20396;EAS_AF=0.2996;AMR_AF=0.1513;AFR_AF=0.0809;EUR_AF=0.1243;SAS_AF=0.3047;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.187101;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1113;ExAC_nontcga_ALL=0.1702;ExAC_nontcga_AFR=0.0865;ExAC_nontcga_AMR=0.1815;ExAC_nontcga_EAS=0.2931;ExAC_nontcga_FIN=0.2297;ExAC_nontcga_NFE=0.1131;ExAC_nontcga_OTH=0.1802;ExAC_nontcga_SAS=0.3173;AF=0.1423;AF_popmax=0.3108;AF_male=0.1415;AF_female=0.1433;AF_raw=0.1422;AF_afr=0.0889;AF_sas=.;AF_amr=0.1851;AF_eas=0.3108;AF_nfe=0.1358;AF_fin=0.2163;AF_asj=0.1207;AF_oth=0.1562;non_topmed_AF_popmax=0.3133;non_neuro_AF_popmax=0.3108;non_cancer_AF_popmax=.;controls_AF_popmax=0.3092;Kaviar_AF=0.156149;Kaviar_AC=24141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.330022;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281701 rs61749223 A T 100 PASS AC=7;AF=0.0113818;AN=214;NS=2504;DP=19674;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0229;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon5:c.T478A:p.S160T,CTNNA3:NM_013266:exon5:c.T478A:p.S160T,CTNNA3:NM_001291133:exon6:c.T514A:p.S172T;1000g2015aug_all=0.0113818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61749223;CLNALLELEID=240829;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.571;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_converted_rankscore=0.348;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_converted_rankscore=0.291;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.154;VEST3_rankscore=0.254;MetaSVM_score=-1.040;MetaSVM_rankscore=0.172;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.156;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.133;REVEL_rankscore=0.367;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.461;CADD_raw_rankscore=0.357;CADD_phred=19.22;DANN_score=0.957;DANN_rankscore=0.271;fathmm-MKL_coding_score=0.714;fathmm-MKL_coding_rankscore=0.347;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.182;Eigen-PC-raw=0.283;GenoCanyon_score=0.085;GenoCanyon_score_rankscore=0.160;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=4.087;phyloP100way_vertebrate_rankscore=0.572;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=11.439;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0253;ExAC_nontcga_ALL=0.0231;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0164;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0364;AF=0.0195;AF_popmax=0.0262;AF_male=0.0207;AF_female=0.0180;AF_raw=0.0196;AF_afr=0.0052;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0262;AF_fin=0.0331;AF_asj=0.0276;AF_oth=0.0239;non_topmed_AF_popmax=0.0265;non_neuro_AF_popmax=0.0262;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0220114;Kaviar_AC=3403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.260389;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69281732 rs7903421 A G 100 PASS AC=15;AF=0.0593051;AN=214;NS=2504;DP=19138;EAS_AF=0.006;AMR_AF=0.0447;AFR_AF=0.0703;EUR_AF=0.0487;SAS_AF=0.1207;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0593051;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7903421;CLNALLELEID=503661;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0592;ExAC_nontcga_ALL=0.0607;ExAC_nontcga_AFR=0.0662;ExAC_nontcga_AMR=0.0389;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0397;ExAC_nontcga_NFE=0.0530;ExAC_nontcga_OTH=0.0714;ExAC_nontcga_SAS=0.1368;AF=0.0508;AF_popmax=0.0612;AF_male=0.0519;AF_female=0.0493;AF_raw=0.0508;AF_afr=0.0612;AF_sas=.;AF_amr=0.0401;AF_eas=0.0038;AF_nfe=0.0525;AF_fin=0.0414;AF_asj=0.0483;AF_oth=0.0478;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0588;non_cancer_AF_popmax=.;controls_AF_popmax=0.0587;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.891749;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69299192 rs11815032 C T 100 PASS AC=5;AF=0.0179712;AN=214;NS=2504;DP=17021;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0547;SAS_AF=0.0153;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11815032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0427;AF_popmax=0.0640;AF_male=0.0407;AF_female=0.0454;AF_raw=0.0428;AF_afr=0.0092;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0640;AF_fin=0.0573;AF_asj=0.0345;AF_oth=0.0551;non_topmed_AF_popmax=0.0681;non_neuro_AF_popmax=0.0640;non_cancer_AF_popmax=.;controls_AF_popmax=0.0810;Kaviar_AF=0.0082017;Kaviar_AC=1268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69299372 rs61749224 T G 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=18191;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0053;EUR_AF=0.0129;SAS_AF=0.047;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon4:c.A348C:p.P116P,CTNNA3:NM_013266:exon4:c.A348C:p.P116P,CTNNA3:NM_001291133:exon5:c.A384C:p.P128P;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61749224;CLNALLELEID=221985;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0172;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0118;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0367;AF=0.0123;AF_popmax=0.0170;AF_male=0.0114;AF_female=0.0133;AF_raw=0.0123;AF_afr=0.0094;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0170;AF_fin=0.0035;AF_asj=0.0207;AF_oth=0.0110;non_topmed_AF_popmax=0.0156;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0173154;Kaviar_AC=2677;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.183406;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69299446 rs1909654 T A 100 PASS AC=24;AF=0.195487;AN=214;NS=2504;DP=18420;EAS_AF=0.006;AMR_AF=0.0937;AFR_AF=0.5015;EUR_AF=0.0974;SAS_AF=0.1503;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1909654;CLNALLELEID=503373;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1024;ExAC_nontcga_ALL=0.1332;ExAC_nontcga_AFR=0.4681;ExAC_nontcga_AMR=0.0661;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0911;ExAC_nontcga_NFE=0.1056;ExAC_nontcga_OTH=0.1228;ExAC_nontcga_SAS=0.1671;AF=0.1954;AF_popmax=0.4705;AF_male=0.1969;AF_female=0.1934;AF_raw=0.1956;AF_afr=0.4705;AF_sas=.;AF_amr=0.0920;AF_eas=0.0038;AF_nfe=0.0957;AF_fin=0.0930;AF_asj=0.0729;AF_oth=0.1255;non_topmed_AF_popmax=0.4699;non_neuro_AF_popmax=0.4653;non_cancer_AF_popmax=.;controls_AF_popmax=0.4672;Kaviar_AF=0.128957;Kaviar_AC=19937;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.936138;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +10 69366602 rs3750863 T C 100 PASS AC=58;AF=0.529952;AN=214;NS=2504;DP=19010;EAS_AF=0.5149;AMR_AF=0.3818;AFR_AF=0.888;EUR_AF=0.2942;SAS_AF=0.409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750863;CLNALLELEID=502840;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2893;ExAC_nontcga_ALL=0.3865;ExAC_nontcga_AFR=0.8064;ExAC_nontcga_AMR=0.3844;ExAC_nontcga_EAS=0.5388;ExAC_nontcga_FIN=0.3173;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.3798;ExAC_nontcga_SAS=0.4286;AF=0.4511;AF_popmax=0.8115;AF_male=0.4574;AF_female=0.4432;AF_raw=0.4513;AF_afr=0.8115;AF_sas=.;AF_amr=0.3632;AF_eas=0.5129;AF_nfe=0.2882;AF_fin=0.3117;AF_asj=0.2812;AF_oth=0.3465;non_topmed_AF_popmax=0.8114;non_neuro_AF_popmax=0.8026;non_cancer_AF_popmax=.;controls_AF_popmax=0.8012;Kaviar_AF=0.367052;Kaviar_AC=56747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.839083;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 +10 69407239 rs61735044 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13604;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon2:c.C33T:p.I11I,CTNNA3:NM_013266:exon2:c.C33T:p.I11I,CTNNA3:NM_001291133:exon3:c.C69T:p.I23I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735044;CLNALLELEID=240832;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0012;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0009;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248734;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69407254 rs138580439 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13936;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon2:c.A18T:p.P6P,CTNNA3:NM_013266:exon2:c.A18T:p.P6P,CTNNA3:NM_001291133:exon3:c.A54T:p.P18P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138580439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=6.482e-05;AF_male=5.723e-05;AF_female=7.182e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.482270;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69882040 rs146336815 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18758;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon2:c.A845G:p.E282G,MYPN:NM_001256267:exon3:c.A845G:p.E282G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146336815;CLNALLELEID=198262;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.92;MutationAssessor_score_rankscore=0.846;MutationAssessor_pred=M;FATHMM_score=-0.49;FATHMM_converted_rankscore=0.704;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.872;PROVEAN_pred=D;VEST3_score=0.902;VEST3_rankscore=0.900;MetaSVM_score=0.576;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.658;MetaLR_rankscore=0.881;MetaLR_pred=D;M-CAP_score=0.186;M-CAP_rankscore=0.859;M-CAP_pred=D;REVEL_score=0.784;REVEL_rankscore=0.929;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.735;CADD_raw_rankscore=0.783;CADD_phred=26.9;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.592;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.883;Eigen-PC-raw=0.820;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=6.712;phyloP100way_vertebrate_rankscore=0.743;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.105;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.776413;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69902919 rs28429181 T C 100 PASS AC=4;AF=0.114217;AN=214;NS=2504;DP=15579;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.3722;EUR_AF=0.0408;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28429181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0477;ExAC_nontcga_ALL=0.0578;ExAC_nontcga_AFR=0.3507;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0265;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0281;ExAC_nontcga_SAS=0.0057;AF=0.1217;AF_popmax=0.3369;AF_male=0.1249;AF_female=0.1178;AF_raw=0.1218;AF_afr=0.3369;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0469;AF_fin=0.0230;AF_asj=0.0034;AF_oth=0.0487;non_topmed_AF_popmax=0.3375;non_neuro_AF_popmax=0.3381;non_cancer_AF_popmax=.;controls_AF_popmax=0.3525;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000945768|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.540898;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69905300 rs2817760 G A 100 PASS AC=28;AF=0.295927;AN=214;NS=2504;DP=16337;EAS_AF=0.1607;AMR_AF=0.2017;AFR_AF=0.7436;EUR_AF=0.0845;SAS_AF=0.1145;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.295927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2817760;CLNALLELEID=142117;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0807;ExAC_nontcga_ALL=0.1591;ExAC_nontcga_AFR=0.6511;ExAC_nontcga_AMR=0.1984;ExAC_nontcga_EAS=0.1795;ExAC_nontcga_FIN=0.1095;ExAC_nontcga_NFE=0.0777;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.1420;AF=0.2476;AF_popmax=0.6435;AF_male=0.2552;AF_female=0.2379;AF_raw=0.2477;AF_afr=0.6435;AF_sas=.;AF_amr=0.1757;AF_eas=0.1727;AF_nfe=0.0749;AF_fin=0.1202;AF_asj=0.1414;AF_oth=0.1308;non_topmed_AF_popmax=0.6432;non_neuro_AF_popmax=0.6401;non_cancer_AF_popmax=.;controls_AF_popmax=0.6425;Kaviar_AF=0.150645;Kaviar_AC=23290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.096456;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 +10 69905411 rs542597145 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17865;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542597145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908063 rs11598744 A T 100 PASS AC=6;AF=0.0577077;AN=214;NS=2504;DP=18945;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.1793;EUR_AF=0.0159;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0577077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11598744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.1457;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0370;ExAC_nontcga_SAS=0.0372;AF=0.0477;AF_popmax=0.1302;AF_male=0.0484;AF_female=0.0468;AF_raw=0.0479;AF_afr=0.1302;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0167;AF_asj=0.0034;AF_oth=0.0257;non_topmed_AF_popmax=0.1299;non_neuro_AF_popmax=0.1377;non_cancer_AF_popmax=.;controls_AF_popmax=0.1371;Kaviar_AF=0.0247862;Kaviar_AC=3832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908157 rs11596653 T C 100 PASS AC=6;AF=0.120607;AN=214;NS=2504;DP=19266;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.4077;EUR_AF=0.0159;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.T1178C:p.V393A,MYPN:NM_001256267:exon6:c.T1178C:p.V393A,MYPN:NM_001256268:exon9:c.T296C:p.V99A;1000g2015aug_all=0.120607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11596653;CLNALLELEID=40453;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.454;SIFT_converted_rankscore=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.140;LRT_converted_rankscore=0.183;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.231;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_converted_rankscore=0.600;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.117;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.023;MetaSVM_score=-0.932;MetaSVM_rankscore=0.439;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.535;CADD_raw_rankscore=0.145;CADD_phred=7.694;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.046;fathmm-MKL_coding_rankscore=0.101;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.703;Eigen-PC-raw=-0.477;GenoCanyon_score=0.879;GenoCanyon_score_rankscore=0.255;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.330;integrated_confidence_value=0;GERP++_RS=2.55;GERP++_RS_rankscore=0.296;phyloP100way_vertebrate=0.416;phyloP100way_vertebrate_rankscore=0.208;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.811;SiPhy_29way_logOdds_rankscore=0.176;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0147;ExAC_nontcga_ALL=0.0455;ExAC_nontcga_AFR=0.3348;ExAC_nontcga_AMR=0.0270;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0101;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0447;ExAC_nontcga_SAS=0.0355;AF=0.1025;AF_popmax=0.3237;AF_male=0.1044;AF_female=0.1002;AF_raw=0.1026;AF_afr=0.3237;AF_sas=.;AF_amr=0.0295;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0167;AF_asj=0.0034;AF_oth=0.0423;non_topmed_AF_popmax=0.3227;non_neuro_AF_popmax=0.3334;non_cancer_AF_popmax=.;controls_AF_popmax=0.3348;Kaviar_AF=0.043861;Kaviar_AC=6781;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.271525;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69908241 rs2200897 G A 100 PASS AC=22;AF=0.121605;AN=214;NS=2504;DP=18457;EAS_AF=0.1577;AMR_AF=0.1297;AFR_AF=0.1528;EUR_AF=0.0676;SAS_AF=0.092;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.121605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2200897;CLNALLELEID=142119;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0643;ExAC_nontcga_ALL=0.0951;ExAC_nontcga_AFR=0.1281;ExAC_nontcga_AMR=0.1627;ExAC_nontcga_EAS=0.1790;ExAC_nontcga_FIN=0.0994;ExAC_nontcga_NFE=0.0616;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1011;AF=0.0901;AF_popmax=0.1727;AF_male=0.0925;AF_female=0.0870;AF_raw=0.0903;AF_afr=0.1257;AF_sas=.;AF_amr=0.1371;AF_eas=0.1727;AF_nfe=0.0560;AF_fin=0.1039;AF_asj=0.1379;AF_oth=0.0773;non_topmed_AF_popmax=0.1704;non_neuro_AF_popmax=0.1727;non_cancer_AF_popmax=.;controls_AF_popmax=0.2;Kaviar_AF=0.0893714;Kaviar_AC=13817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1522046|N/A|ESR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 +10 69909756 rs2817759 T C 100 PASS AC=4;AF=0.0946486;AN=214;NS=2504;DP=17641;EAS_AF=0.002;AMR_AF=0.0346;AFR_AF=0.2224;EUR_AF=0.0278;SAS_AF=0.1288;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0946486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2817759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0344;ExAC_nontcga_ALL=0.0572;ExAC_nontcga_AFR=0.1993;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0146;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0535;ExAC_nontcga_SAS=0.1324;AF=0.0762;AF_popmax=0.2008;AF_male=0.0799;AF_female=0.0716;AF_raw=0.0764;AF_afr=0.2008;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0327;AF_fin=0.0201;AF_asj=0.0138;AF_oth=0.0460;non_topmed_AF_popmax=0.2012;non_neuro_AF_popmax=0.1981;non_cancer_AF_popmax=.;controls_AF_popmax=0.2025;Kaviar_AF=0.0528518;Kaviar_AC=8171;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.779753;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69909802 rs10997948 G A 100 PASS AC=14;AF=0.0842652;AN=214;NS=2504;DP=19456;EAS_AF=0.002;AMR_AF=0.0706;AFR_AF=0.1717;EUR_AF=0.0686;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.G1251A:p.Q417Q,MYPN:NM_001256267:exon7:c.G1251A:p.Q417Q,MYPN:NM_001256268:exon10:c.G369A:p.Q123Q;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997948;CLNALLELEID=40454;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0826;ExAC_nontcga_ALL=0.0844;ExAC_nontcga_AFR=0.1558;ExAC_nontcga_AMR=0.0475;ExAC_nontcga_EAS=0.0065;ExAC_nontcga_FIN=0.0501;ExAC_nontcga_NFE=0.0888;ExAC_nontcga_OTH=0.1037;ExAC_nontcga_SAS=0.1057;AF=0.0936;AF_popmax=0.1544;AF_male=0.0939;AF_female=0.0933;AF_raw=0.0938;AF_afr=0.1544;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.0792;AF_fin=0.0617;AF_asj=0.0862;AF_oth=0.0671;non_topmed_AF_popmax=0.1534;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1486;Kaviar_AF=0.0840093;Kaviar_AC=12988;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.405156;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69909844 rs147184158 C A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19035;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.C1293A:p.I431I,MYPN:NM_001256267:exon7:c.C1293A:p.I431I,MYPN:NM_001256268:exon10:c.C411A:p.I137I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147184158;CLNALLELEID=195434;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0005;AF_popmax=0.0059;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.385616;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69909899 rs7096613 G A 100 PASS AC=15;AF=0.14996;AN=214;NS=2504;DP=18402;EAS_AF=0.002;AMR_AF=0.0879;AFR_AF=0.4092;EUR_AF=0.0706;SAS_AF=0.0777;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7096613;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0826;ExAC_nontcga_ALL=0.1045;ExAC_nontcga_AFR=0.3603;ExAC_nontcga_AMR=0.0597;ExAC_nontcga_EAS=0.0067;ExAC_nontcga_FIN=0.0506;ExAC_nontcga_NFE=0.0902;ExAC_nontcga_OTH=0.1111;ExAC_nontcga_SAS=0.1078;AF=0.1487;AF_popmax=0.3485;AF_male=0.1521;AF_female=0.1443;AF_raw=0.1487;AF_afr=0.3485;AF_sas=.;AF_amr=0.0719;AF_eas=0.0096;AF_nfe=0.0799;AF_fin=0.0619;AF_asj=0.0862;AF_oth=0.0784;non_topmed_AF_popmax=0.3475;non_neuro_AF_popmax=0.3378;non_cancer_AF_popmax=.;controls_AF_popmax=0.3403;Kaviar_AF=0.100943;Kaviar_AC=15606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669119;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +10 69918442 rs138631064 CACTT C 100 PASS AC=4;AF=0.0379393;AN=214;NS=2504;DP=15405;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.115;EUR_AF=0.0119;SAS_AF=0.0164;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138631064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0428;AF_popmax=0.1142;AF_male=0.0426;AF_female=0.0431;AF_raw=0.0428;AF_afr=0.1142;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0167;AF_fin=0.0148;AF_asj=0.0103;AF_oth=0.0221;non_topmed_AF_popmax=0.1142;non_neuro_AF_popmax=0.1137;non_cancer_AF_popmax=.;controls_AF_popmax=0.1143;Kaviar_AF=0.003381;Kaviar_AC=88;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.509998;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69925596 rs41278498 G C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=18072;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41278498;CLNALLELEID=512841;CLNDN=Dilated_cardiomyopathy_1KK;CLNDISDB=MedGen:C3714995,OMIM:615248;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0017;AF=0.0074;AF_popmax=0.0115;AF_male=0.0074;AF_female=0.0073;AF_raw=0.0074;AF_afr=0.0024;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0055;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0074773;Kaviar_AC=1156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.725426;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69926097 rs2673794 T C 100 PASS AC=140;AF=0.482628;AN=214;NS=2504;DP=14543;EAS_AF=0.3125;AMR_AF=0.6844;AFR_AF=0.2769;EUR_AF=0.6859;SAS_AF=0.5838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;1000g2015aug_all=0.482628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2673794;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6960;ExAC_nontcga_ALL=0.6198;ExAC_nontcga_AFR=0.3384;ExAC_nontcga_AMR=0.6887;ExAC_nontcga_EAS=0.2892;ExAC_nontcga_FIN=0.7417;ExAC_nontcga_NFE=0.6848;ExAC_nontcga_OTH=0.6556;ExAC_nontcga_SAS=0.6198;AF=0.5884;AF_popmax=0.7086;AF_male=0.5745;AF_female=0.6059;AF_raw=0.5881;AF_afr=0.3462;AF_sas=.;AF_amr=0.6521;AF_eas=0.2851;AF_nfe=0.7086;AF_fin=0.7444;AF_asj=0.6771;AF_oth=0.6823;non_topmed_AF_popmax=0.7159;non_neuro_AF_popmax=0.7089;non_cancer_AF_popmax=.;controls_AF_popmax=0.7418;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.444903;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 1|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69926319 rs61854624 C A 100 PASS AC=49;AF=0.116613;AN=214;NS=2504;DP=16743;EAS_AF=0.0962;AMR_AF=0.2622;AFR_AF=0.0091;EUR_AF=0.164;SAS_AF=0.1309;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1869A:p.T623T,MYPN:NM_001256267:exon11:c.C1869A:p.T623T,MYPN:NM_001256268:exon14:c.C987A:p.T329T;1000g2015aug_all=0.116613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61854624;CLNALLELEID=40463;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1735;ExAC_nontcga_ALL=0.1566;ExAC_nontcga_AFR=0.0302;ExAC_nontcga_AMR=0.2487;ExAC_nontcga_EAS=0.0860;ExAC_nontcga_FIN=0.1783;ExAC_nontcga_NFE=0.1672;ExAC_nontcga_OTH=0.1657;ExAC_nontcga_SAS=0.1532;AF=0.1266;AF_popmax=0.2087;AF_male=0.1233;AF_female=0.1307;AF_raw=0.1266;AF_afr=0.0276;AF_sas=.;AF_amr=0.2087;AF_eas=0.0954;AF_nfe=0.1619;AF_fin=0.1883;AF_asj=0.3069;AF_oth=0.1543;non_topmed_AF_popmax=0.2086;non_neuro_AF_popmax=0.1913;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.155037;Kaviar_AC=23969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.867298;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69926325 rs2673793 C T 100 PASS AC=53;AF=0.157748;AN=214;NS=2504;DP=16669;EAS_AF=0.0962;AMR_AF=0.2767;AFR_AF=0.1362;EUR_AF=0.1759;SAS_AF=0.1472;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1875T:p.P625P,MYPN:NM_001256267:exon11:c.C1875T:p.P625P,MYPN:NM_001256268:exon14:c.C993T:p.P331P;1000g2015aug_all=0.157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2673793;CLNALLELEID=40456;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1866;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.1491;ExAC_nontcga_AMR=0.2600;ExAC_nontcga_EAS=0.0861;ExAC_nontcga_FIN=0.1873;ExAC_nontcga_NFE=0.1813;ExAC_nontcga_OTH=0.2003;ExAC_nontcga_SAS=0.1861;AF=0.1731;AF_popmax=0.2252;AF_male=0.1695;AF_female=0.1777;AF_raw=0.1734;AF_afr=0.1553;AF_sas=.;AF_amr=0.2252;AF_eas=0.0950;AF_nfe=0.1787;AF_fin=0.2029;AF_asj=0.3125;AF_oth=0.1765;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2154;Kaviar_AF=0.176531;Kaviar_AC=27292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.063706;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69926334 rs10823148 C G 100 PASS AC=87;AF=0.316494;AN=214;NS=2504;DP=16523;EAS_AF=0.2163;AMR_AF=0.4049;AFR_AF=0.1104;EUR_AF=0.5099;SAS_AF=0.4366;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;1000g2015aug_all=0.316494;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10823148;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.557;SIFT_converted_rankscore=0.165;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=0.060;MutationTaster_converted_rankscore=0.373;MutationTaster_pred=P;MutationAssessor_score=0.835;MutationAssessor_score_rankscore=0.211;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.555;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.267;MetaSVM_score=-0.929;MetaSVM_rankscore=0.444;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.756;CADD_raw_rankscore=0.166;CADD_phred=9.186;DANN_score=0.646;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_rankscore=0.450;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.280;Eigen-PC-raw=-0.131;GenoCanyon_score=0.502;GenoCanyon_score_rankscore=0.209;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.3;GERP++_RS_rankscore=0.504;phyloP100way_vertebrate=1.709;phyloP100way_vertebrate_rankscore=0.373;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.595;phastCons20way_mammalian_rankscore=0.288;SiPhy_29way_logOdds=7.614;SiPhy_29way_logOdds_rankscore=0.271;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000138347.11;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5095;ExAC_nontcga_ALL=0.4349;ExAC_nontcga_AFR=0.1592;ExAC_nontcga_AMR=0.4244;ExAC_nontcga_EAS=0.2018;ExAC_nontcga_FIN=0.5534;ExAC_nontcga_NFE=0.5025;ExAC_nontcga_OTH=0.4553;ExAC_nontcga_SAS=0.4334;AF=0.4062;AF_popmax=0.5293;AF_male=0.3954;AF_female=0.4197;AF_raw=0.4064;AF_afr=0.1606;AF_sas=.;AF_amr=0.4222;AF_eas=0.1893;AF_nfe=0.5293;AF_fin=0.5417;AF_asj=0.3586;AF_oth=0.5037;non_topmed_AF_popmax=0.5374;non_neuro_AF_popmax=0.5287;non_cancer_AF_popmax=.;controls_AF_popmax=0.5582;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.204429;ALLELE_END;VINYL_score=2.5 GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69933921 rs10997975 G A 100 PASS AC=85;AF=0.335863;AN=214;NS=2504;DP=17477;EAS_AF=0.2649;AMR_AF=0.4035;AFR_AF=0.1762;EUR_AF=0.4851;SAS_AF=0.4233;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;1000g2015aug_all=0.335863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10997975;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_converted_rankscore=0.220;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.75;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_converted_rankscore=0.031;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-0.916;MetaSVM_rankscore=0.462;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.042;REVEL_rankscore=0.116;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.657;CADD_raw_rankscore=0.157;CADD_phred=8.543;DANN_score=0.184;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_rankscore=0.120;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.980;Eigen-PC-raw=-0.796;GenoCanyon_score=0.348;GenoCanyon_score_rankscore=0.196;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.21;GERP++_RS_rankscore=0.358;phyloP100way_vertebrate=0.447;phyloP100way_vertebrate_rankscore=0.213;phyloP20way_mammalian=0.168;phyloP20way_mammalian_rankscore=0.246;phastCons100way_vertebrate=0.094;phastCons100way_vertebrate_rankscore=0.225;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=8.094;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=.;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.48;ExAC_nontcga_ALL=0.4288;ExAC_nontcga_AFR=0.2071;ExAC_nontcga_AMR=0.4168;ExAC_nontcga_EAS=0.2611;ExAC_nontcga_FIN=0.5402;ExAC_nontcga_NFE=0.4796;ExAC_nontcga_OTH=0.4568;ExAC_nontcga_SAS=0.4251;AF=0.4046;AF_popmax=0.4997;AF_male=0.3952;AF_female=0.4164;AF_raw=0.4043;AF_afr=0.2074;AF_sas=.;AF_amr=0.4216;AF_eas=0.2323;AF_nfe=0.4997;AF_fin=0.5259;AF_asj=0.3621;AF_oth=0.4917;non_topmed_AF_popmax=0.5089;non_neuro_AF_popmax=0.4988;non_cancer_AF_popmax=.;controls_AF_popmax=0.5313;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.388223;ALLELE_END;VINYL_score=2.5 GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69933969 rs7916821 G A 100 PASS AC=85;AF=0.32508;AN=214;NS=2504;DP=18267;EAS_AF=0.2163;AMR_AF=0.4035;AFR_AF=0.1762;EUR_AF=0.4851;SAS_AF=0.4182;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;1000g2015aug_all=0.32508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7916821;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_converted_rankscore=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.045;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_converted_rankscore=0.205;LRT_pred=N;MutationTaster_score=0.971;MutationTaster_converted_rankscore=0.256;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_converted_rankscore=0.123;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.109;MetaSVM_score=-0.933;MetaSVM_rankscore=0.437;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.097;REVEL_rankscore=0.284;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.882;CADD_raw_rankscore=0.287;CADD_phred=15.48;DANN_score=0.987;DANN_rankscore=0.445;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_rankscore=0.260;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.199;Eigen-PC-raw=-0.052;GenoCanyon_score=0.081;GenoCanyon_score_rankscore=0.159;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.68;GERP++_RS_rankscore=0.582;phyloP100way_vertebrate=0.843;phyloP100way_vertebrate_rankscore=0.271;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.845;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.852;phastCons20way_mammalian_rankscore=0.355;SiPhy_29way_logOdds=8.752;SiPhy_29way_logOdds_rankscore=0.336;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4798;ExAC_nontcga_ALL=0.4236;ExAC_nontcga_AFR=0.2073;ExAC_nontcga_AMR=0.4145;ExAC_nontcga_EAS=0.2050;ExAC_nontcga_FIN=0.5380;ExAC_nontcga_NFE=0.4790;ExAC_nontcga_OTH=0.4510;ExAC_nontcga_SAS=0.4231;AF=0.4013;AF_popmax=0.4990;AF_male=0.3916;AF_female=0.4135;AF_raw=0.4015;AF_afr=0.2064;AF_sas=.;AF_amr=0.4133;AF_eas=0.1916;AF_nfe=0.4990;AF_fin=0.5242;AF_asj=0.3621;AF_oth=0.4871;non_topmed_AF_popmax=0.5083;non_neuro_AF_popmax=0.4982;non_cancer_AF_popmax=.;controls_AF_popmax=0.5310;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.151452;ALLELE_END;VINYL_score=2.5 GT 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69934012 rs71584491 C A 100 PASS AC=4;AF=0.0429313;AN=214;NS=2504;DP=18309;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.1331;EUR_AF=0.0109;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2163A:p.A721A,MYPN:NM_001256267:exon12:c.C2163A:p.A721A,MYPN:NM_001256268:exon15:c.C1281A:p.A427A;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71584491;CLNALLELEID=40466;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0123;ExAC_nontcga_ALL=0.0238;ExAC_nontcga_AFR=0.1125;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0325;AF=0.0414;AF_popmax=0.1101;AF_male=0.0426;AF_female=0.0398;AF_raw=0.0416;AF_afr=0.1101;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0144;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.1102;non_neuro_AF_popmax=0.1046;non_cancer_AF_popmax=.;controls_AF_popmax=0.1069;Kaviar_AF=0.0226258;Kaviar_AC=3498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.701038;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69934258 rs3814182 C G 100 PASS AC=108;AF=0.471446;AN=214;NS=2504;DP=18659;EAS_AF=0.3512;AMR_AF=0.4597;AFR_AF=0.447;EUR_AF=0.5666;SAS_AF=0.5389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;1000g2015aug_all=0.471446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3814182;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_rankscore=0.464;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.397;Polyphen2_HVAR_rankscore=0.432;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.416;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_converted_rankscore=0.297;MutationTaster_pred=P;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=0.36;FATHMM_converted_rankscore=0.583;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.173;VEST3_rankscore=0.446;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.170;REVEL_rankscore=0.438;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.029;CADD_raw_rankscore=0.305;CADD_phred=16.40;DANN_score=0.968;DANN_rankscore=0.307;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.027;Eigen-PC-raw=-1.206;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.328;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-9.63;GERP++_RS_rankscore=0.005;phyloP100way_vertebrate=-3.220;phyloP100way_vertebrate_rankscore=0.006;phyloP20way_mammalian=-0.330;phyloP20way_mammalian_rankscore=0.074;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.913;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=19.595;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000233590.1|ENSG00000233590.1;GTEx_V6p_tissue=Colon_Transverse|Colon_Transverse|Liver;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5509;ExAC_nontcga_ALL=0.5186;ExAC_nontcga_AFR=0.4592;ExAC_nontcga_AMR=0.4525;ExAC_nontcga_EAS=0.3630;ExAC_nontcga_FIN=0.6409;ExAC_nontcga_NFE=0.5518;ExAC_nontcga_OTH=0.5389;ExAC_nontcga_SAS=0.5107;AF=0.5272;AF_popmax=0.5668;AF_male=0.5245;AF_female=0.5306;AF_raw=0.5268;AF_afr=0.4512;AF_sas=.;AF_amr=0.4525;AF_eas=0.3779;AF_nfe=0.5668;AF_fin=0.6191;AF_asj=0.4862;AF_oth=0.5610;non_topmed_AF_popmax=0.5729;non_neuro_AF_popmax=0.5650;non_cancer_AF_popmax=.;controls_AF_popmax=0.5882;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421069;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 1|1 0|0 0|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|1 1|1 1|0 1|0 1|1 0|1 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|1 0|0 1|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|1 1|0 0|0 +10 69934259 rs62620248 G A 100 PASS AC=4;AF=0.0103834;AN=214;NS=2504;DP=18616;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0023;EUR_AF=0.0288;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2410A:p.G804R,MYPN:NM_001256267:exon12:c.G2410A:p.G804R,MYPN:NM_001256268:exon15:c.G1528A:p.G510R;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62620248;CLNALLELEID=40469;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.042;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.520;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.384;Polyphen2_HVAR_rankscore=0.422;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.880;MutationTaster_converted_rankscore=0.280;MutationTaster_pred=N;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.57;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_converted_rankscore=0.046;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.137;MetaSVM_score=-0.998;MetaSVM_rankscore=0.305;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_rankscore=0.163;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.875;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.997;DANN_rankscore=0.798;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_rankscore=0.425;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.307;Eigen-PC-raw=0.396;GenoCanyon_score=0.284;GenoCanyon_score_rankscore=0.190;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=2.147;phyloP100way_vertebrate_rankscore=0.416;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.990;phastCons100way_vertebrate_rankscore=0.367;phastCons20way_mammalian=0.959;phastCons20way_mammalian_rankscore=0.439;SiPhy_29way_logOdds=12.540;SiPhy_29way_logOdds_rankscore=0.553;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.035;ExAC_nontcga_ALL=0.0177;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0101;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0045;AF=0.0156;AF_popmax=0.0247;AF_male=0.0155;AF_female=0.0157;AF_raw=0.0156;AF_afr=0.0039;AF_sas=.;AF_amr=0.0201;AF_eas=0;AF_nfe=0.0247;AF_fin=0.0107;AF_asj=0.0276;AF_oth=0.0110;non_topmed_AF_popmax=0.0217;non_neuro_AF_popmax=0.0254;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.0191589;Kaviar_AC=2962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421069;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69934467 rs3814183 A G 100 PASS AC=164;AF=0.817093;AN=214;NS=2504;DP=20456;EAS_AF=0.8948;AMR_AF=0.7161;AFR_AF=0.7829;EUR_AF=0.8111;SAS_AF=0.8609;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.817093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3814183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8081;AF_popmax=0.9107;AF_male=0.8089;AF_female=0.8072;AF_raw=0.8076;AF_afr=0.7886;AF_sas=.;AF_amr=0.7630;AF_eas=0.9107;AF_nfe=0.8178;AF_fin=0.7900;AF_asj=0.6897;AF_oth=0.8057;non_topmed_AF_popmax=0.9084;non_neuro_AF_popmax=0.9107;non_cancer_AF_popmax=.;controls_AF_popmax=0.8982;Kaviar_AF=0.157818;Kaviar_AC=24399;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|0 +10 69935059 rs7097776 A G 100 PASS AC=139;AF=0.547524;AN=214;NS=2504;DP=15055;EAS_AF=0.3294;AMR_AF=0.7133;AFR_AF=0.4955;EUR_AF=0.7097;SAS_AF=0.5583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.547524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7097776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7103;ExAC_nontcga_ALL=0.6495;ExAC_nontcga_AFR=0.5171;ExAC_nontcga_AMR=0.7067;ExAC_nontcga_EAS=0.2982;ExAC_nontcga_FIN=0.7665;ExAC_nontcga_NFE=0.7117;ExAC_nontcga_OTH=0.6957;ExAC_nontcga_SAS=0.5952;AF=0.6463;AF_popmax=0.7210;AF_male=0.6354;AF_female=0.6599;AF_raw=0.6460;AF_afr=0.5152;AF_sas=.;AF_amr=0.6848;AF_eas=0.2832;AF_nfe=0.7210;AF_fin=0.7690;AF_asj=0.7103;AF_oth=0.7123;non_topmed_AF_popmax=0.7270;non_neuro_AF_popmax=0.7193;non_cancer_AF_popmax=.;controls_AF_popmax=0.7437;Kaviar_AF=0.641706;Kaviar_AC=99209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.698597;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69935062 rs560312633 T G 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14790;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0119;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560312633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0099;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128106;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69935235 rs6480306 T C 100 PASS AC=214;AF=0.982428;AN=214;NS=2504;DP=16786;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9342;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6480306;CLNALLELEID=142122;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9990;ExAC_nontcga_ALL=0.9939;ExAC_nontcga_AFR=0.9414;ExAC_nontcga_AMR=0.9973;ExAC_nontcga_EAS=0.9999;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9996;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9962;AF=0.9817;AF_popmax=1;AF_male=0.9814;AF_female=0.9820;AF_raw=0.9816;AF_afr=0.9358;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9936;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.951864;Kaviar_AC=147160;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.211278;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 69948844 rs10733838 T C 100 PASS AC=214;AF=0.984625;AN=214;NS=2504;DP=17218;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9425;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V;1000g2015aug_all=0.984625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10733838;CLNALLELEID=40459;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9957;ExAC_nontcga_AFR=0.9531;ExAC_nontcga_AMR=0.9983;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9852;AF_popmax=1;AF_male=0.9850;AF_female=0.9855;AF_raw=0.9852;AF_afr=0.9481;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.948526;Kaviar_AC=146644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.672016;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 69948892 rs12241644 G C 100 PASS AC=2;AF=0.0141773;AN=214;NS=2504;DP=18323;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0446;EUR_AF=0.005;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0141773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12241644;CLNALLELEID=142125;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0060;ExAC_nontcga_AFR=0.0417;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0056;AF=0.0127;AF_popmax=0.0410;AF_male=0.0140;AF_female=0.0112;AF_raw=0.0127;AF_afr=0.0410;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0411;non_neuro_AF_popmax=0.0381;non_cancer_AF_popmax=.;controls_AF_popmax=0.0381;Kaviar_AF=0.0055497;Kaviar_AC=858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.871692;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69954090 rs71584497 A G 100 PASS AC=4;AF=0.00678914;AN=214;NS=2504;DP=17060;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71584497;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0199;ExAC_nontcga_ALL=0.0169;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0099;ExAC_nontcga_NFE=0.0208;ExAC_nontcga_OTH=0.0269;ExAC_nontcga_SAS=0.0282;AF=0.0157;AF_popmax=0.0230;AF_male=0.0159;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0046;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0230;AF_fin=0.0176;AF_asj=0.0414;AF_oth=0.0175;non_topmed_AF_popmax=0.0245;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0162546;Kaviar_AC=2513;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69954290 rs7081213 G A 100 PASS AC=85;AF=0.35603;AN=214;NS=2504;DP=19205;EAS_AF=0.2401;AMR_AF=0.4078;AFR_AF=0.2738;EUR_AF=0.4821;SAS_AF=0.4202;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7081213;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4774;ExAC_nontcga_ALL=0.4389;ExAC_nontcga_AFR=0.3030;ExAC_nontcga_AMR=0.4201;ExAC_nontcga_EAS=0.2358;ExAC_nontcga_FIN=0.5423;ExAC_nontcga_NFE=0.4839;ExAC_nontcga_OTH=0.475;ExAC_nontcga_SAS=0.4299;AF=0.4291;AF_popmax=0.4992;AF_male=0.4215;AF_female=0.4386;AF_raw=0.4290;AF_afr=0.3003;AF_sas=.;AF_amr=0.4301;AF_eas=0.2155;AF_nfe=0.4992;AF_fin=0.5225;AF_asj=0.3621;AF_oth=0.4899;non_topmed_AF_popmax=0.5083;non_neuro_AF_popmax=0.4988;non_cancer_AF_popmax=.;controls_AF_popmax=0.5325;Kaviar_AF=0.431812;Kaviar_AC=66759;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979848;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69954301 rs11815154 C T 100 PASS AC=42;AF=0.117812;AN=214;NS=2504;DP=19845;EAS_AF=0.1181;AMR_AF=0.2507;AFR_AF=0.0098;EUR_AF=0.167;SAS_AF=0.1186;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11815154;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1633;ExAC_nontcga_ALL=0.1521;ExAC_nontcga_AFR=0.0306;ExAC_nontcga_AMR=0.2531;ExAC_nontcga_EAS=0.0971;ExAC_nontcga_FIN=0.1857;ExAC_nontcga_NFE=0.1608;ExAC_nontcga_OTH=0.1590;ExAC_nontcga_SAS=0.1371;AF=0.1211;AF_popmax=0.2057;AF_male=0.1183;AF_female=0.1246;AF_raw=0.1212;AF_afr=0.0261;AF_sas=.;AF_amr=0.2057;AF_eas=0.0959;AF_nfe=0.1527;AF_fin=0.1881;AF_asj=0.2465;AF_oth=0.1562;non_topmed_AF_popmax=0.2079;non_neuro_AF_popmax=0.1848;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.144739;Kaviar_AC=22377;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.138258::0.219998;Heart_Left_Ventricle=Heart_Left_Ventricle::0.137868::-0.303189;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.137292;ALLELE_END;VINYL_score=3 GT 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 +10 69955140 rs7069569 T A 100 PASS AC=131;AF=0.48143;AN=214;NS=2504;DP=17932;EAS_AF=0.3591;AMR_AF=0.6628;AFR_AF=0.2874;EUR_AF=0.663;SAS_AF=0.5542;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.48143;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7069569;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5667;AF_popmax=0.6754;AF_male=0.5568;AF_female=0.5792;AF_raw=0.5667;AF_afr=0.3326;AF_sas=.;AF_amr=0.6450;AF_eas=0.3090;AF_nfe=0.6754;AF_fin=0.7282;AF_asj=0.6552;AF_oth=0.6651;non_topmed_AF_popmax=0.6816;non_neuro_AF_popmax=0.6759;non_cancer_AF_popmax=.;controls_AF_popmax=0.7057;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 0|0 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69957279 rs182989437 T G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14610;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182989437;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.616e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.981e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.238e-05;AF_popmax=6.579e-05;AF_male=5.807e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.579e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.198e-05;non_neuro_AF_popmax=7.468e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1412240|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.261007;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +10 69959097 rs7079549 G T 100 PASS AC=145;AF=0.538139;AN=214;NS=2504;DP=17909;EAS_AF=0.3581;AMR_AF=0.7233;AFR_AF=0.3896;EUR_AF=0.7455;SAS_AF=0.5798;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7473;ExAC_nontcga_ALL=0.6702;ExAC_nontcga_AFR=0.4485;ExAC_nontcga_AMR=0.7097;ExAC_nontcga_EAS=0.3287;ExAC_nontcga_FIN=0.7960;ExAC_nontcga_NFE=0.7452;ExAC_nontcga_OTH=0.7338;ExAC_nontcga_SAS=0.6272;AF=0.6502;AF_popmax=0.7553;AF_male=0.6414;AF_female=0.6613;AF_raw=0.6497;AF_afr=0.4471;AF_sas=.;AF_amr=0.7021;AF_eas=0.3123;AF_nfe=0.7553;AF_fin=0.7951;AF_asj=0.7361;AF_oth=0.7362;non_topmed_AF_popmax=0.7579;non_neuro_AF_popmax=0.7543;non_cancer_AF_popmax=.;controls_AF_popmax=0.7654;Kaviar_AF=0.663543;Kaviar_AC=102585;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.134722;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 1|1 0|1 0|1 +10 69959174 rs71534278 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18012;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3335T:p.P1112L,MYPN:NM_001256267:exon18:c.C3335T:p.P1112L,MYPN:NM_001256268:exon21:c.C2453T:p.P818L;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71534278;CLNALLELEID=40451;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:C3714998|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.053;SIFT_converted_rankscore=0.388;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-5.4;PROVEAN_converted_rankscore=0.851;PROVEAN_pred=D;VEST3_score=0.761;VEST3_rankscore=0.797;MetaSVM_score=-0.646;MetaSVM_rankscore=0.629;MetaSVM_pred=T;MetaLR_score=0.240;MetaLR_rankscore=0.608;MetaLR_pred=T;M-CAP_score=0.045;M-CAP_rankscore=0.620;M-CAP_pred=D;REVEL_score=0.445;REVEL_rankscore=0.750;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.849;CADD_raw_rankscore=0.801;CADD_phred=27.3;DANN_score=0.999;DANN_rankscore=0.980;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.721;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.578;Eigen-PC-raw=0.627;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=6.010;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.201;SiPhy_29way_logOdds_rankscore=0.651;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0055;AF=0.0021;AF_popmax=0.0094;AF_male=0.0022;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0016;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.002846;Kaviar_AC=440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.608949;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69959242 rs7079481 C A 100 PASS AC=85;AF=0.340256;AN=214;NS=2504;DP=19149;EAS_AF=0.2391;AMR_AF=0.402;AFR_AF=0.2163;EUR_AF=0.4841;SAS_AF=0.4202;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;1000g2015aug_all=0.340256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079481;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_converted_rankscore=0.722;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.809;PROVEAN_pred=D;VEST3_score=0.494;VEST3_rankscore=0.594;MetaSVM_score=-0.935;MetaSVM_rankscore=0.434;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.439;REVEL_rankscore=0.746;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.536;CADD_raw_rankscore=0.900;CADD_phred=31;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.864;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.666;Eigen-PC-raw=0.686;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.869;phastCons20way_mammalian_rankscore=0.363;SiPhy_29way_logOdds=19.331;SiPhy_29way_logOdds_rankscore=0.943;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000179774.7|ENSG00000233590.1|ENSG00000138347.11;GTEx_V6p_tissue=Colon_Transverse|Colon_Transverse|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4786;ExAC_nontcga_ALL=0.4305;ExAC_nontcga_AFR=0.2525;ExAC_nontcga_AMR=0.4157;ExAC_nontcga_EAS=0.2269;ExAC_nontcga_FIN=0.5374;ExAC_nontcga_NFE=0.4803;ExAC_nontcga_OTH=0.4697;ExAC_nontcga_SAS=0.4264;AF=0.4170;AF_popmax=0.5001;AF_male=0.4096;AF_female=0.4263;AF_raw=0.4169;AF_afr=0.2570;AF_sas=.;AF_amr=0.4222;AF_eas=0.2093;AF_nfe=0.5001;AF_fin=0.5224;AF_asj=0.3611;AF_oth=0.4870;non_topmed_AF_popmax=0.5089;non_neuro_AF_popmax=0.4998;non_cancer_AF_popmax=.;controls_AF_popmax=0.5331;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.605475;ALLELE_END;VINYL_score=4 GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69959281 rs200390297 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19260;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.G3442C:p.A1148P,MYPN:NM_001256267:exon18:c.G3442C:p.A1148P,MYPN:NM_001256268:exon21:c.G2560C:p.A854P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200390297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.01;MutationAssessor_score_rankscore=0.969;MutationAssessor_pred=H;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-4.5;PROVEAN_converted_rankscore=0.781;PROVEAN_pred=D;VEST3_score=0.958;VEST3_rankscore=0.957;MetaSVM_score=0.939;MetaSVM_rankscore=0.962;MetaSVM_pred=D;MetaLR_score=0.814;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=0.266;M-CAP_rankscore=0.897;M-CAP_pred=D;REVEL_score=0.891;REVEL_rankscore=0.969;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.922;CADD_raw_rankscore=0.933;CADD_phred=33;DANN_score=0.998;DANN_rankscore=0.850;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.942;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.134;Eigen-PC-raw=1.021;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=19.331;SiPhy_29way_logOdds_rankscore=0.943;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.635210;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69959345 rs11279655 GCTGGGA G 100 PASS AC=85;AF=0.358227;AN=214;NS=2504;DP=19940;EAS_AF=0.2391;AMR_AF=0.4092;AFR_AF=0.2806;EUR_AF=0.4841;SAS_AF=0.4202;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.358227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11279655;CLNALLELEID=198282;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4553;ExAC_nontcga_ALL=0.4266;ExAC_nontcga_AFR=0.3014;ExAC_nontcga_AMR=0.4068;ExAC_nontcga_EAS=0.2228;ExAC_nontcga_FIN=0.5238;ExAC_nontcga_NFE=0.4697;ExAC_nontcga_OTH=0.4577;ExAC_nontcga_SAS=0.4248;AF=0.4259;AF_popmax=0.4937;AF_male=0.4181;AF_female=0.4358;AF_raw=0.4281;AF_afr=0.3011;AF_sas=.;AF_amr=0.4323;AF_eas=0.2089;AF_nfe=0.4937;AF_fin=0.5211;AF_asj=0.3627;AF_oth=0.4879;non_topmed_AF_popmax=0.5027;non_neuro_AF_popmax=0.4928;non_cancer_AF_popmax=.;controls_AF_popmax=0.5286;Kaviar_AF=0.012613;Kaviar_AC=1950;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.130942,98.994558;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69959397 rs7079974 G A 100 PASS AC=85;AF=0.358227;AN=214;NS=2504;DP=19286;EAS_AF=0.2391;AMR_AF=0.4092;AFR_AF=0.2806;EUR_AF=0.4841;SAS_AF=0.4202;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.358227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7079974;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4311;AF_popmax=0.5003;AF_male=0.4238;AF_female=0.4401;AF_raw=0.4309;AF_afr=0.3058;AF_sas=.;AF_amr=0.4336;AF_eas=0.2104;AF_nfe=0.5003;AF_fin=0.5222;AF_asj=0.3646;AF_oth=0.4926;non_topmed_AF_popmax=0.5091;non_neuro_AF_popmax=0.5;non_cancer_AF_popmax=.;controls_AF_popmax=0.5329;Kaviar_AF=0.0865966;Kaviar_AC=13388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.735011;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 +10 69961805 rs71541553 G A 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=19003;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0045;EUR_AF=0.008;SAS_AF=0.0153;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71541553;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0110;AF_popmax=0.0138;AF_male=0.0118;AF_female=0.0101;AF_raw=0.0111;AF_afr=0.0087;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0138;AF_fin=0.0075;AF_asj=0.0414;AF_oth=0.0120;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0141;non_cancer_AF_popmax=.;controls_AF_popmax=0.0115;Kaviar_AF=0.0127939;Kaviar_AC=333;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0549335|N/A|CEBPB|JASPAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69966602 rs184347775 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon19:c.G3735A:p.T1245T,MYPN:NM_001256267:exon20:c.G3735A:p.T1245T,MYPN:NM_001256268:exon23:c.G2853A:p.T951T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184347775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.367e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.610949;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 69969986 rs10998022 C T 100 PASS AC=77;AF=0.285743;AN=214;NS=2504;DP=20761;EAS_AF=0.4692;AMR_AF=0.2594;AFR_AF=0.0961;EUR_AF=0.3201;SAS_AF=0.3364;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10998022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2596;AF_popmax=0.4737;AF_male=0.2626;AF_female=0.2560;AF_raw=0.2597;AF_afr=0.1215;AF_sas=.;AF_amr=0.2866;AF_eas=0.4737;AF_nfe=0.3130;AF_fin=0.2501;AF_asj=0.3759;AF_oth=0.2836;non_topmed_AF_popmax=0.4723;non_neuro_AF_popmax=0.4737;non_cancer_AF_popmax=.;controls_AF_popmax=0.4705;Kaviar_AF=0.0597146;Kaviar_AC=9232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 1|0 1|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 +10 69969987 rs147880642 G A 100 PASS AC=2;AF=0.00898562;AN=214;NS=2504;DP=20764;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0234;EUR_AF=0.007;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147880642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0165;AF_male=0.0058;AF_female=0.0059;AF_raw=0.0058;AF_afr=0.0165;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0132;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75834538 rs56264452 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17595;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon6:c.C660T:p.N220N,VCL:NM_014000:exon6:c.C660T:p.N220N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56264452;CLNALLELEID=54785;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0014;AF_male=0.0008;AF_female=0.0014;AF_raw=0.0011;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004515|hsa-miR-29b-2-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.114408;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75842152 rs2270548 G A 100 PASS AC=71;AF=0.511182;AN=214;NS=2504;DP=21733;EAS_AF=0.7748;AMR_AF=0.3674;AFR_AF=0.4523;EUR_AF=0.3648;SAS_AF=0.5716;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4189;AF_popmax=0.7751;AF_male=0.4216;AF_female=0.4154;AF_raw=0.4192;AF_afr=0.4478;AF_sas=.;AF_amr=0.3759;AF_eas=0.7751;AF_nfe=0.3762;AF_fin=0.3983;AF_asj=0.2655;AF_oth=0.4237;non_topmed_AF_popmax=0.7774;non_neuro_AF_popmax=0.7751;non_cancer_AF_popmax=.;controls_AF_popmax=0.7978;Kaviar_AF=0.080704;Kaviar_AC=12477;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.537528;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 1|0 0|1 0|0 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 +10 75843100 rs1908339 T A 100 PASS AC=108;AF=0.780751;AN=214;NS=2504;DP=19597;EAS_AF=0.9802;AMR_AF=0.598;AFR_AF=0.9175;EUR_AF=0.5239;SAS_AF=0.7843;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1908339;CLNALLELEID=489881;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5227;ExAC_nontcga_ALL=0.6534;ExAC_nontcga_AFR=0.8724;ExAC_nontcga_AMR=0.6562;ExAC_nontcga_EAS=0.9836;ExAC_nontcga_FIN=0.6452;ExAC_nontcga_NFE=0.5349;ExAC_nontcga_OTH=0.6081;ExAC_nontcga_SAS=0.7696;AF=0.6717;AF_popmax=0.9814;AF_male=0.6734;AF_female=0.6694;AF_raw=0.6710;AF_afr=0.8607;AF_sas=.;AF_amr=0.6057;AF_eas=0.9814;AF_nfe=0.5464;AF_fin=0.6539;AF_asj=0.5172;AF_oth=0.6369;non_topmed_AF_popmax=0.9816;non_neuro_AF_popmax=0.9814;non_cancer_AF_popmax=.;controls_AF_popmax=0.9825;Kaviar_AF=0.628439;Kaviar_AC=97158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.094034;ALLELE_END;VINYL_score=1 GT 0|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 +10 75849921 rs71579355 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21992;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.T1317C:p.S439S,VCL:NM_014000:exon10:c.T1317C:p.S439S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579355;CLNALLELEID=54743;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0016;AF=0.0029;AF_popmax=0.0047;AF_male=0.0028;AF_female=0.0030;AF_raw=0.0029;AF_afr=0.0015;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0044825;Kaviar_AC=693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392980;ALLELE_END;VINYL_score=3 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75849991 rs73280468 C A 100 PASS AC=1;AF=0.0249601;AN=214;NS=2504;DP=20764;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0862;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73280468;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0721;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0010;AF=0.0243;AF_popmax=0.0770;AF_male=0.0255;AF_female=0.0229;AF_raw=0.0244;AF_afr=0.0770;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0771;non_cancer_AF_popmax=.;controls_AF_popmax=0.0793;Kaviar_AF=0.0093078;Kaviar_AC=1439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75855541 rs137877092 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=17797;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0123;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon12:c.C1671T:p.D557D,VCL:NM_014000:exon12:c.C1671T:p.D557D;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137877092;CLNALLELEID=54753;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0159;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0187;AF=0.0034;AF_popmax=0.0023;AF_male=0.0029;AF_female=0.0041;AF_raw=0.0034;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0173;AF_asj=0.0103;AF_oth=0.0064;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0044178;Kaviar_AC=683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.561477;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75863750 rs2270552 C T 100 PASS AC=167;AF=0.500998;AN=214;NS=2504;DP=19695;EAS_AF=0.3423;AMR_AF=0.6282;AFR_AF=0.3986;EUR_AF=0.7286;SAS_AF=0.4785;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.500998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270552;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6227;AF_popmax=0.7184;AF_male=0.6183;AF_female=0.6281;AF_raw=0.6221;AF_afr=0.4854;AF_sas=.;AF_amr=0.6140;AF_eas=0.3417;AF_nfe=0.7184;AF_fin=0.6491;AF_asj=0.8414;AF_oth=0.6278;non_topmed_AF_popmax=0.7113;non_neuro_AF_popmax=0.7201;non_cancer_AF_popmax=.;controls_AF_popmax=0.7034;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.852024;ALLELE_END;VINYL_score=1 GT 1|0 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|0 1|0 +10 75865065 rs767809 G A 100 PASS AC=132;AF=0.324681;AN=214;NS=2504;DP=19604;EAS_AF=0.254;AMR_AF=0.4568;AFR_AF=0.0598;EUR_AF=0.5915;SAS_AF=0.3875;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;1000g2015aug_all=0.324681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs767809;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5895;ExAC_nontcga_ALL=0.4687;ExAC_nontcga_AFR=0.1237;ExAC_nontcga_AMR=0.3711;ExAC_nontcga_EAS=0.2632;ExAC_nontcga_FIN=0.5442;ExAC_nontcga_NFE=0.5837;ExAC_nontcga_OTH=0.5434;ExAC_nontcga_SAS=0.4097;AF=0.4315;AF_popmax=0.5805;AF_male=0.4258;AF_female=0.4386;AF_raw=0.4311;AF_afr=0.1344;AF_sas=.;AF_amr=0.4575;AF_eas=0.2817;AF_nfe=0.5805;AF_fin=0.5369;AF_asj=0.6840;AF_oth=0.4844;non_topmed_AF_popmax=0.5703;non_neuro_AF_popmax=0.5818;non_cancer_AF_popmax=.;controls_AF_popmax=0.5663;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004559|hsa-miR-181c-3p|Experimental,MIMAT0000761|hsa-miR-324-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805936;ALLELE_END;VINYL_score=2 GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75865095 rs538142998 A G 100 PASS AC=7;AF=0.0365415;AN=214;NS=2504;DP=19707;EAS_AF=0.0466;AMR_AF=0.062;AFR_AF=0.0287;EUR_AF=0.0537;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.A2418G:p.G806G,VCL:NM_014000:exon16:c.A2418G:p.G806G;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538142998;CLNALLELEID=258657;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.546e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0003;AF_male=0.0001;AF_female=7.181e-05;AF_raw=9.549e-05;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809405;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75865159 rs55984079 C T 100 PASS AC=16;AF=0.0157748;AN=214;NS=2504;DP=20937;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.0023;EUR_AF=0.0467;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55984079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0610;ExAC_nontcga_ALL=0.0378;ExAC_nontcga_AFR=0.0086;ExAC_nontcga_AMR=0.0336;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0566;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0145;AF=0.0365;AF_popmax=0.0545;AF_male=0.0374;AF_female=0.0353;AF_raw=0.0365;AF_afr=0.0108;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.0545;AF_fin=0.0282;AF_asj=0.0828;AF_oth=0.0414;non_topmed_AF_popmax=0.0510;non_neuro_AF_popmax=0.0632;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0391974;Kaviar_AC=6060;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.066364;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +10 75866929 rs2131957 C A 100 PASS AC=133;AF=0.400958;AN=214;NS=2504;DP=22113;EAS_AF=0.254;AMR_AF=0.4914;AFR_AF=0.3253;EUR_AF=0.5984;SAS_AF=0.3875;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.400958;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2131957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5089;AF_popmax=0.5858;AF_male=0.5056;AF_female=0.5130;AF_raw=0.5089;AF_afr=0.3958;AF_sas=.;AF_amr=0.4858;AF_eas=0.2804;AF_nfe=0.5858;AF_fin=0.5423;AF_asj=0.6966;AF_oth=0.5111;non_topmed_AF_popmax=0.5760;non_neuro_AF_popmax=0.5865;non_cancer_AF_popmax=.;controls_AF_popmax=0.5704;Kaviar_AF=0.0208237;Kaviar_AC=542;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.185861;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1182812|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.346867;ALLELE_END;VINYL_score=3 GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75871735 rs2131956 C G 100 PASS AC=170;AF=0.623003;AN=214;NS=2504;DP=19638;EAS_AF=0.3819;AMR_AF=0.6744;AFR_AF=0.7753;EUR_AF=0.7485;SAS_AF=0.5;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;1000g2015aug_all=0.623003;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2131956;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7521;ExAC_nontcga_ALL=0.6646;ExAC_nontcga_AFR=0.7817;ExAC_nontcga_AMR=0.5656;ExAC_nontcga_EAS=0.3745;ExAC_nontcga_FIN=0.6739;ExAC_nontcga_NFE=0.7401;ExAC_nontcga_OTH=0.7133;ExAC_nontcga_SAS=0.5495;AF=0.7295;AF_popmax=0.7929;AF_male=0.7275;AF_female=0.7319;AF_raw=0.7290;AF_afr=0.7929;AF_sas=.;AF_amr=0.6525;AF_eas=0.3867;AF_nfe=0.7456;AF_fin=0.6762;AF_asj=0.8586;AF_oth=0.6759;non_topmed_AF_popmax=0.7931;non_neuro_AF_popmax=0.7919;non_cancer_AF_popmax=.;controls_AF_popmax=0.7950;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.730915;ALLELE_END;VINYL_score=1 GT 1|0 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|0 1|0 +10 75873892 rs10824072 C T 100 PASS AC=133;AF=0.400958;AN=214;NS=2504;DP=20238;EAS_AF=0.254;AMR_AF=0.4914;AFR_AF=0.3253;EUR_AF=0.5984;SAS_AF=0.3875;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.400958;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10824072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5953;ExAC_nontcga_ALL=0.4955;ExAC_nontcga_AFR=0.3791;ExAC_nontcga_AMR=0.3871;ExAC_nontcga_EAS=0.2643;ExAC_nontcga_FIN=0.5454;ExAC_nontcga_NFE=0.5897;ExAC_nontcga_OTH=0.5608;ExAC_nontcga_SAS=0.4115;AF=0.5096;AF_popmax=0.5865;AF_male=0.5061;AF_female=0.5138;AF_raw=0.5091;AF_afr=0.3966;AF_sas=.;AF_amr=0.4894;AF_eas=0.2804;AF_nfe=0.5865;AF_fin=0.5429;AF_asj=0.6966;AF_oth=0.5101;non_topmed_AF_popmax=0.5768;non_neuro_AF_popmax=0.5873;non_cancer_AF_popmax=.;controls_AF_popmax=0.5710;Kaviar_AF=0.495847;Kaviar_AC=76659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.185861;ENSEMBLReg=Name\x3dENSR00000946465|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.535256;ALLELE_END;VINYL_score=3 GT 1|0 1|1 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75873920 rs71579378 C G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19847;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579378;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0071;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0002;AF=0.0075;AF_popmax=0.0108;AF_male=0.0073;AF_female=0.0078;AF_raw=0.0075;AF_afr=0.0028;AF_sas=.;AF_amr=0.0094;AF_eas=0.0006;AF_nfe=0.0108;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0157;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000946465|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.493086;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75874190 rs561809089 T C 100 PASS AC=2;AF=0.0125799;AN=214;NS=2504;DP=16699;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0378;EUR_AF=0.006;SAS_AF=0.002;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561809089;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0023;ExAC_nontcga_SAS=0.0009;AF=0.0026;AF_popmax=0.0041;AF_male=0.0025;AF_female=0.0028;AF_raw=0.0026;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0021;AF_asj=0.0035;AF_oth=0.0019;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0008991;Kaviar_AC=139;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 75874192 rs2270550 T C 100 PASS AC=126;AF=0.382788;AN=214;NS=2504;DP=16676;EAS_AF=0.2639;AMR_AF=0.4625;AFR_AF=0.2806;EUR_AF=0.5696;SAS_AF=0.3947;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3936;ExAC_nontcga_AFR=0.1884;ExAC_nontcga_AMR=0.3039;ExAC_nontcga_EAS=0.2086;ExAC_nontcga_FIN=0.4278;ExAC_nontcga_NFE=0.4783;ExAC_nontcga_OTH=0.4623;ExAC_nontcga_SAS=0.3605;AF=0.4165;AF_popmax=0.5380;AF_male=0.4149;AF_female=0.4185;AF_raw=0.4064;AF_afr=0.1933;AF_sas=.;AF_amr=0.425;AF_eas=0.2787;AF_nfe=0.5380;AF_fin=0.4613;AF_asj=0.6679;AF_oth=0.4585;non_topmed_AF_popmax=0.5284;non_neuro_AF_popmax=0.5396;non_cancer_AF_popmax=.;controls_AF_popmax=0.5227;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.454468;ALLELE_END;VINYL_score=1 GT 1|0 1|0 1|0 0|1 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|1 1|0 1|0 +10 75874667 rs71579379 A T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19523;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71579379;CLNALLELEID=54775;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.005;ExAC_nontcga_SAS=0.0013;AF=0.0027;AF_popmax=0.0043;AF_male=0.0025;AF_female=0.0031;AF_raw=0.0027;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0026;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.871381;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439094 rs45481892 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19433;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45481892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0021;AF_popmax=0.0038;AF_male=0.0025;AF_female=0.0017;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0017141;Kaviar_AC=265;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1768642|N/A|MITF|PAZAR,OREG1861631|N/A|SPI1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.456162;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439175 rs200645175 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20362;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon2:c.G145C:p.V49L,LDB3:NM_001080115:exon2:c.G145C:p.V49L,LDB3:NM_001080116:exon2:c.G145C:p.V49L,LDB3:NM_001171611:exon2:c.G145C:p.V49L,LDB3:NM_007078:exon2:c.G145C:p.V49L,LDB3:NM_001171610:exon3:c.G145C:p.V49L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200645175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.017;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.851;Polyphen2_HVAR_rankscore=0.656;Polyphen2_HVAR_pred=P;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.2;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.538;VEST3_rankscore=0.601;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.151;MetaLR_rankscore=0.480;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.538;M-CAP_pred=D;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.907;CADD_raw_rankscore=0.810;CADD_phred=27.5;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.637;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.535;Eigen-PC-raw=0.615;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.391;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=7.323;phyloP100way_vertebrate_rankscore=0.782;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=19.726;SiPhy_29way_logOdds_rankscore=0.961;Interpro_domain=PDZ_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.485e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.816619;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88439866 rs45613039 G A 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=19534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0215;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon3:c.G273A:p.T91T,LDB3:NM_001080115:exon3:c.G273A:p.T91T,LDB3:NM_001080116:exon3:c.G273A:p.T91T,LDB3:NM_001171611:exon3:c.G273A:p.T91T,LDB3:NM_007078:exon3:c.G273A:p.T91T,LDB3:NM_001171610:exon4:c.G273A:p.T91T;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45613039;CLNALLELEID=54708;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0200;AF=6.373e-05;AF_popmax=6.487e-05;AF_male=0.0001;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0024644;Kaviar_AC=381;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.713696;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88440018 rs45598635 G A 100 PASS AC=9;AF=0.0726837;AN=214;NS=2504;DP=16539;EAS_AF=0.0268;AMR_AF=0.1585;AFR_AF=0.0666;EUR_AF=0.0358;SAS_AF=0.1053;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0726837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45598635;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0546;AF_popmax=0.1611;AF_male=0.0537;AF_female=0.0556;AF_raw=0.0548;AF_afr=0.0830;AF_sas=.;AF_amr=0.1611;AF_eas=0.0193;AF_nfe=0.0365;AF_fin=0.0567;AF_asj=0.0207;AF_oth=0.0525;non_topmed_AF_popmax=0.1650;non_neuro_AF_popmax=0.1418;non_cancer_AF_popmax=.;controls_AF_popmax=0.1463;Kaviar_AF=0.0571692;Kaviar_AC=1488;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441223 rs35507268 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=15087;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.G352A:p.V118M,LDB3:NM_001171611:exon4:c.G352A:p.V118M,LDB3:NM_007078:exon4:c.G352A:p.V118M,LDB3:NM_001171610:exon5:c.G352A:p.V118M;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35507268;CLNALLELEID=54710;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.171;SIFT_converted_rankscore=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.351;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.459;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.06;VEST3_rankscore=0.049;MetaSVM_score=-0.991;MetaSVM_rankscore=0.324;MetaSVM_pred=T;MetaLR_score=0.067;MetaLR_rankscore=0.275;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.651;M-CAP_pred=D;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.436;CADD_raw_rankscore=0.235;CADD_phred=12.98;DANN_score=0.997;DANN_rankscore=0.829;fathmm-MKL_coding_score=0.073;fathmm-MKL_coding_rankscore=0.132;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.607;Eigen-PC-raw=-0.570;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.405;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=0.298;GERP++_RS_rankscore=0.149;phyloP100way_vertebrate=0.090;phyloP100way_vertebrate_rankscore=0.147;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.026;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.309;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=5.423;SiPhy_29way_logOdds_rankscore=0.156;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0052;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0046;AF_popmax=0.0067;AF_male=0.0041;AF_female=0.0052;AF_raw=0.0046;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0060;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0081;non_neuro_AF_popmax=0.0067;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1176609|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.840456;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441269 rs200239096 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14772;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C398T:p.P133L,LDB3:NM_001171611:exon4:c.C398T:p.P133L,LDB3:NM_007078:exon4:c.C398T:p.P133L,LDB3:NM_001171610:exon5:c.C398T:p.P133L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200239096;CLNALLELEID=198313;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.198;SIFT_converted_rankscore=0.205;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.401;LRT_converted_rankscore=0.131;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.52;MutationAssessor_score_rankscore=0.136;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_converted_rankscore=0.542;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.026;MetaSVM_score=-1.025;MetaSVM_rankscore=0.222;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.334;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.612;M-CAP_pred=D;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.218;CADD_raw_rankscore=0.024;CADD_phred=0.006;DANN_score=0.644;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.131;Eigen-PC-raw=-1.189;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=-3.25;GERP++_RS_rankscore=0.047;phyloP100way_vertebrate=-0.714;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-0.598;phyloP20way_mammalian_rankscore=0.044;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=12.752;SiPhy_29way_logOdds_rankscore=0.565;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.869e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.588e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.375e-05;AF_popmax=0.0012;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1176609|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.519844;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441437 rs45487699 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=16024;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C566T:p.S189L,LDB3:NM_001171611:exon4:c.C566T:p.S189L,LDB3:NM_007078:exon4:c.C566T:p.S189L,LDB3:NM_001171610:exon5:c.C566T:p.S189L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45487699;CLNALLELEID=19770;CLNDN=Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.68;SIFT_converted_rankscore=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.439;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.355;Polyphen2_HVAR_pred=B;LRT_score=0.843;LRT_converted_rankscore=0.070;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.245;MutationTaster_pred=A;MutationAssessor_score=2.28;MutationAssessor_score_rankscore=0.651;MutationAssessor_pred=M;FATHMM_score=0.85;FATHMM_converted_rankscore=0.527;FATHMM_pred=T;PROVEAN_score=-0.91;PROVEAN_converted_rankscore=0.264;PROVEAN_pred=N;VEST3_score=0.558;VEST3_rankscore=0.763;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.113;MetaLR_rankscore=0.403;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.449;M-CAP_pred=T;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.083;CADD_raw_rankscore=0.198;CADD_phred=11.12;DANN_score=0.995;DANN_rankscore=0.700;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.409;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.295;Eigen-PC-raw=-0.298;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.82;GERP++_RS_rankscore=0.430;phyloP100way_vertebrate=3.324;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=-0.021;phyloP20way_mammalian_rankscore=0.129;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.486;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0007;AF=0.0004;AF_popmax=0.0005;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.723768;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88441527 rs530979771 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18774;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.G656A:p.R219Q,LDB3:NM_001171611:exon4:c.G656A:p.R219Q,LDB3:NM_007078:exon4:c.G656A:p.R219Q,LDB3:NM_001171610:exon5:c.G656A:p.R219Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530979771;CLNALLELEID=175034;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.265;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.945;Polyphen2_HVAR_rankscore=0.664;Polyphen2_HVAR_pred=D;LRT_score=0.239;LRT_converted_rankscore=0.157;LRT_pred=N;MutationTaster_score=0.586;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.415;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_converted_rankscore=0.505;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.287;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.225;MetaSVM_score=-0.844;MetaSVM_rankscore=0.524;MetaSVM_pred=T;MetaLR_score=0.158;MetaLR_rankscore=0.492;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.498;M-CAP_pred=D;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.708;CADD_raw_rankscore=0.631;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.818;fathmm-MKL_coding_rankscore=0.408;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.114;Eigen-PC-raw=0.006;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=2.370;phyloP100way_vertebrate_rankscore=0.436;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.485;SiPhy_29way_logOdds_rankscore=0.211;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.982e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.583e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898982;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88445385 rs3740345 G C 100 PASS AC=150;AF=0.624201;AN=214;NS=2504;DP=17390;EAS_AF=0.4702;AMR_AF=0.5144;AFR_AF=0.5885;EUR_AF=0.7406;SAS_AF=0.7894;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.624201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3740345;CLNALLELEID=253888;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7528;ExAC_nontcga_ALL=0.6830;ExAC_nontcga_AFR=0.5932;ExAC_nontcga_AMR=0.4728;ExAC_nontcga_EAS=0.4525;ExAC_nontcga_FIN=0.6472;ExAC_nontcga_NFE=0.7435;ExAC_nontcga_OTH=0.6971;ExAC_nontcga_SAS=0.7964;AF=0.6679;AF_popmax=0.7450;AF_male=0.6653;AF_female=0.6712;AF_raw=0.6673;AF_afr=0.5815;AF_sas=.;AF_amr=0.5354;AF_eas=0.4626;AF_nfe=0.7450;AF_fin=0.6506;AF_asj=0.7517;AF_oth=0.6946;non_topmed_AF_popmax=0.7438;non_neuro_AF_popmax=0.7461;non_cancer_AF_popmax=.;controls_AF_popmax=0.7476;Kaviar_AF=0.0040297;Kaviar_AC=623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.723784;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 1|0 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 1|0 +10 88446811 rs113445294 G A 100 PASS AC=9;AF=0.0613019;AN=214;NS=2504;DP=16776;EAS_AF=0.005;AMR_AF=0.0259;AFR_AF=0.1664;EUR_AF=0.0288;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0613019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113445294;CLNALLELEID=53044;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0396;ExAC_nontcga_ALL=0.0409;ExAC_nontcga_AFR=0.1550;ExAC_nontcga_AMR=0.0222;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0316;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0338;AF=0.0682;AF_popmax=0.1456;AF_male=0.0662;AF_female=0.0707;AF_raw=0.0682;AF_afr=0.1456;AF_sas=.;AF_amr=0.0271;AF_eas=0.0019;AF_nfe=0.0408;AF_fin=0.0395;AF_asj=0.0448;AF_oth=0.0616;non_topmed_AF_popmax=0.1451;non_neuro_AF_popmax=0.1473;non_cancer_AF_popmax=.;controls_AF_popmax=0.1483;Kaviar_AF=0.0407369;Kaviar_AC=6298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.516757;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88446830 rs121908338 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=17665;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0227;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.G349A:p.D117N,LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001171611:exon5:c.G694A:p.D232N,LDB3:NM_001171610:exon6:c.G694A:p.D232N;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121908338;CLNALLELEID=19772;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_rankscore=0.398;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_rankscore=0.340;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.031;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.89;FATHMM_converted_rankscore=0.889;FATHMM_pred=T;PROVEAN_score=-1.19;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.080;MetaSVM_score=-0.543;MetaSVM_rankscore=0.671;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_rankscore=0.583;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.272;REVEL_rankscore=0.592;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.591;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.855;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.987;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.143;Eigen-PC-raw=0.058;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=6.872;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=14.523;SiPhy_29way_logOdds_rankscore=0.673;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0154;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0031;AF=0.0058;AF_popmax=0.0136;AF_male=0.0064;AF_female=0.0052;AF_raw=0.0059;AF_afr=0.0136;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0064;non_topmed_AF_popmax=0.0135;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0042173;Kaviar_AC=652;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869135;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88446985 rs76615432 T C 100 PASS AC=9;AF=0.0567093;AN=214;NS=2504;DP=20082;EAS_AF=0.005;AMR_AF=0.0245;AFR_AF=0.1498;EUR_AF=0.0288;SAS_AF=0.0358;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T504C:p.D168D,LDB3:NM_001080116:exon5:c.T504C:p.D168D,LDB3:NM_001171611:exon5:c.T849C:p.D283D,LDB3:NM_001171610:exon6:c.T849C:p.D283D;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76615432;CLNALLELEID=53048;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0407;ExAC_nontcga_ALL=0.0398;ExAC_nontcga_AFR=0.1435;ExAC_nontcga_AMR=0.0210;ExAC_nontcga_EAS=0.0027;ExAC_nontcga_FIN=0.0316;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.0578;ExAC_nontcga_SAS=0.0336;AF=0.0694;AF_popmax=0.15;AF_male=0.0665;AF_female=0.0731;AF_raw=0.0695;AF_afr=0.15;AF_sas=.;AF_amr=0.0295;AF_eas=0.0019;AF_nfe=0.0410;AF_fin=0.0394;AF_asj=0.0448;AF_oth=0.0579;non_topmed_AF_popmax=0.1494;non_neuro_AF_popmax=0.1508;non_cancer_AF_popmax=.;controls_AF_popmax=0.1569;Kaviar_AF=0.0406657;Kaviar_AC=6287;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0568182::-0.478883;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.899103;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88447076 rs116080654 A T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=17933;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0098;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116080654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0026;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0041;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0021863;Kaviar_AC=338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.306648;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88447082 rs111941601 A C 100 PASS AC=9;AF=0.0439297;AN=214;NS=2504;DP=17744;EAS_AF=0.005;AMR_AF=0.0216;AFR_AF=0.1029;EUR_AF=0.0288;SAS_AF=0.0358;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111941601;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0527;AF_popmax=0.0908;AF_male=0.0498;AF_female=0.0564;AF_raw=0.0527;AF_afr=0.0908;AF_sas=.;AF_amr=0.0259;AF_eas=0.0019;AF_nfe=0.0407;AF_fin=0.0395;AF_asj=0.0448;AF_oth=0.0551;non_topmed_AF_popmax=0.0903;non_neuro_AF_popmax=0.0919;non_cancer_AF_popmax=.;controls_AF_popmax=0.0946;Kaviar_AF=0.0073026;Kaviar_AC=1129;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0435606::-0.553228;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534907;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88451649 rs45529531 A G 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=19643;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0151;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45529531;CLNALLELEID=45111;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0030;AF_popmax=0.0054;AF_male=0.0031;AF_female=0.0028;AF_raw=0.0030;AF_afr=0.0054;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0053;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0026002;Kaviar_AC=402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.150170;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88451715 rs34423165 A G 100 PASS AC=1;AF=0.0171725;AN=214;NS=2504;DP=19602;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.0484;EUR_AF=0.001;SAS_AF=0.0184;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon5:c.A752G:p.K251R,LDB3:NM_007078:exon5:c.A752G:p.K251R,LDB3:NM_001080114:exon6:c.A611G:p.K204R,LDB3:NM_001080116:exon6:c.A611G:p.K204R,LDB3:NM_001171611:exon6:c.A956G:p.K319R,LDB3:NM_001171610:exon7:c.A956G:p.K319R;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34423165;CLNALLELEID=45112;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.069;SIFT_converted_rankscore=0.355;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_converted_rankscore=0.338;LRT_pred=N;MutationTaster_score=0.963;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.03;MutationAssessor_score_rankscore=0.557;MutationAssessor_pred=M;FATHMM_score=-2.03;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-1.19;PROVEAN_converted_rankscore=0.320;PROVEAN_pred=N;VEST3_score=0.575;VEST3_rankscore=0.714;MetaSVM_score=-0.191;MetaSVM_rankscore=0.779;MetaSVM_pred=T;MetaLR_score=0.296;MetaLR_rankscore=0.667;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.392;REVEL_rankscore=0.711;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.610;CADD_raw_rankscore=0.491;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.925;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.553;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.487;Eigen-PC-raw=0.504;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=4.145;phyloP100way_vertebrate_rankscore=0.576;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=16.323;SiPhy_29way_logOdds_rankscore=0.827;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bDomain_of_unknown_function_DUF4749|Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0107;AF=0.0152;AF_popmax=0.0518;AF_male=0.0146;AF_female=0.0159;AF_raw=0.0152;AF_afr=0.0518;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0515;non_neuro_AF_popmax=0.0533;non_cancer_AF_popmax=.;controls_AF_popmax=0.0514;Kaviar_AF=0.0063195;Kaviar_AC=977;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835354;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +10 88451869 rs3740346 G C 100 PASS AC=34;AF=0.241214;AN=214;NS=2504;DP=18921;EAS_AF=0.6111;AMR_AF=0.2291;AFR_AF=0.0832;EUR_AF=0.1143;SAS_AF=0.2127;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.241214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3740346;CLNALLELEID=253890;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1154;ExAC_nontcga_ALL=0.1894;ExAC_nontcga_AFR=0.0873;ExAC_nontcga_AMR=0.2801;ExAC_nontcga_EAS=0.6384;ExAC_nontcga_FIN=0.1943;ExAC_nontcga_NFE=0.1311;ExAC_nontcga_OTH=0.1930;ExAC_nontcga_SAS=0.1629;AF=0.1561;AF_popmax=0.6559;AF_male=0.1590;AF_female=0.1523;AF_raw=0.1564;AF_afr=0.0954;AF_sas=.;AF_amr=0.2205;AF_eas=0.6559;AF_nfe=0.1274;AF_fin=0.1915;AF_asj=0.1552;AF_oth=0.1710;non_topmed_AF_popmax=0.6565;non_neuro_AF_popmax=0.6559;non_cancer_AF_popmax=.;controls_AF_popmax=0.6524;Kaviar_AF=0.174124;Kaviar_AC=26920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.097764;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 +10 88452190 rs45471403 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18014;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45471403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0032;AF_male=0.0025;AF_female=0.0033;AF_raw=0.0029;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0084;AF_asj=0.0034;AF_oth=0.0065;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88452258 rs45541241 G A 100 PASS AC=6;AF=0.00259585;AN=214;NS=2504;DP=18770;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45541241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0021;AF_popmax=0.0047;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0002;AF_sas=.;AF_amr=0.0047;AF_eas=0.0006;AF_nfe=0.0027;AF_fin=0.0029;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0036934;Kaviar_AC=571;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.713266;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +10 88458996 rs199946071;rs564999333;rs560832183;rs560183948;rs559013712;rs554580693 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 100 PASS AC=2,78,25,37,1;AF=0.0307508,0.252396,0.109824,0.36262,0.0501198;AN=214;NS=2504;DP=20061;EAS_AF=0.0744,0.2034,0.0248,0.5069,0.0575;AMR_AF=0.0216,0.3401,0.1081,0.3156,0.0288;AFR_AF=0.0378,0.1263,0.1823,0.5015,0.1067;EUR_AF=0.0099,0.3688,0.1312,0.171,0.003;SAS_AF=0.0041,0.2914,0.0787,0.2566,0.0297;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199946071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009961;Kaviar_AC=154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696200;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455,99.696200;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0501198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554580693;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0614;ExAC_nontcga_AFR=0.1655;ExAC_nontcga_AMR=0.0795;ExAC_nontcga_EAS=0.2163;ExAC_nontcga_FIN=0.0297;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0371;ExAC_nontcga_SAS=0.0429;AF=0.0022;AF_popmax=0.0098;AF_male=0.0018;AF_female=0.0028;AF_raw=0.0079;AF_afr=0.0036;AF_sas=.;AF_amr=0.0098;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0041;AF_asj=0.0036;AF_oth=0.0071;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0061;non_cancer_AF_popmax=.;controls_AF_popmax=0.0161;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455,99.696200;ALLELE_END;VINYL_score=1 GT 0|2 2|3 0|4 2|0 0|0 2|0 0|4 0|2 4|2 0|2 0|2 0|2 2|2 4|2 0|0 0|2 4|4 2|0 4|2 2|4 0|4 0|2 4|3 2|2 4|0 0|2 2|2 0|4 2|4 0|2 4|1 0|4 0|2 3|0 2|0 4|2 0|2 3|0 0|0 4|2 0|0 2|4 0|0 2|0 2|3 3|0 2|0 2|4 3|0 4|2 0|2 2|0 2|3 2|0 2|0 2|0 2|0 3|2 4|0 2|3 0|2 4|5 0|2 2|0 2|3 3|4 3|2 2|0 4|0 2|0 0|4 0|2 4|2 0|2 2|0 3|2 0|1 2|3 0|2 4|0 4|2 2|4 0|2 0|2 0|2 4|0 3|2 3|0 2|0 4|4 2|0 3|2 3|2 0|2 3|2 4|2 4|2 2|3 2|0 4|0 4|0 3|2 3|2 2|0 3|3 4|2 0|0 +10 88459000 rs200885020 C G 100 PASS AC=2;AF=0.0301518;AN=214;NS=2504;DP=18049;EAS_AF=0.0724;AMR_AF=0.0216;AFR_AF=0.0378;EUR_AF=0.0089;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200885020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696200;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459002 rs201929738 C T 100 PASS AC=2;AF=0.0301518;AN=214;NS=2504;DP=18098;EAS_AF=0.0724;AMR_AF=0.0216;AFR_AF=0.0378;EUR_AF=0.0089;SAS_AF=0.0041;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201929738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611455;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459050 rs144445130 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18854;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.G912A:p.T304T,LDB3:NM_001080116:exon8:c.G771A:p.T257T,LDB3:NM_001171611:exon8:c.G1116A:p.T372T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144445130;CLNALLELEID=53053;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0032;AF=0.0002;AF_popmax=0.0005;AF_male=0.0004;AF_female=0;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.910619;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459055 rs557033441 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18619;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.G917A:p.R306H,LDB3:NM_001080116:exon8:c.G776A:p.R259H,LDB3:NM_001171611:exon8:c.G1121A:p.R374H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557033441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.286;SIFT_converted_rankscore=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.385;Polyphen2_HDIV_rankscore=0.596;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.104;Polyphen2_HVAR_rankscore=0.514;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.13;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-0.7;PROVEAN_converted_rankscore=0.199;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.265;MetaSVM_score=-0.970;MetaSVM_rankscore=0.372;MetaSVM_pred=T;MetaLR_score=0.136;MetaLR_rankscore=0.453;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.278;M-CAP_pred=T;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=0.315;MutPred_rankscore=0.292;CADD_raw=2.444;CADD_raw_rankscore=0.355;CADD_phred=19.11;DANN_score=0.999;DANN_rankscore=0.972;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.202;Eigen-PC-raw=0.270;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=4.903;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.673;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.894e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.195e-05;AF_popmax=0.0001;AF_male=5.741e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.933432;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88459066 rs377201153 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18504;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon7:c.C928T:p.R310C,LDB3:NM_001080116:exon8:c.C787T:p.R263C,LDB3:NM_001171611:exon8:c.C1132T:p.R378C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377201153;CLNALLELEID=195922;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_provided;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.83;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.455;VEST3_rankscore=0.567;MetaSVM_score=-0.457;MetaSVM_rankscore=0.702;MetaSVM_pred=T;MetaLR_score=0.301;MetaLR_rankscore=0.673;MetaLR_pred=T;M-CAP_score=0.053;M-CAP_rankscore=0.654;M-CAP_pred=D;REVEL_score=0.227;REVEL_rankscore=0.531;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.712;CADD_raw_rankscore=0.387;CADD_phred=20.9;DANN_score=0.999;DANN_rankscore=0.984;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.725;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.789;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.06;GERP++_RS_rankscore=0.677;phyloP100way_vertebrate=7.196;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.629;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Domain_of_unknown_function_DUF4749;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=5.734e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1289486|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.888298;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88466465 rs45459491 C T 100 PASS AC=12;AF=0.0201677;AN=214;NS=2504;DP=18021;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0368;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_007078:exon7:c.C1074T:p.A358A;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45459491;CLNALLELEID=45106;CLNDN=Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0369;ExAC_nontcga_ALL=0.0398;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0141;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0319;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0280;ExAC_nontcga_SAS=0.0616;AF=0.0312;AF_popmax=0.0485;AF_male=0.0311;AF_female=0.0313;AF_raw=0.0313;AF_afr=0.0077;AF_sas=.;AF_amr=0.0189;AF_eas=0.0006;AF_nfe=0.0485;AF_fin=0.0265;AF_asj=0.0103;AF_oth=0.0479;non_topmed_AF_popmax=0.0531;non_neuro_AF_popmax=0.0477;non_cancer_AF_popmax=.;controls_AF_popmax=0.0577;Kaviar_AF=0.0339388;Kaviar_AC=5247;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.132953;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 +10 88469831 rs45477098 G A 100 PASS AC=2;AF=0.00698882;AN=214;NS=2504;DP=14801;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0166;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45477098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0154;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0035;AF=0.0107;AF_popmax=0.0127;AF_male=0.0110;AF_female=0.0103;AF_raw=0.0107;AF_afr=0.0114;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0127;AF_fin=0.0046;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0146;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0064747;Kaviar_AC=1001;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.207180;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88469837 rs11597201 C G 100 PASS AC=6;AF=0.0385383;AN=214;NS=2504;DP=14779;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0991;EUR_AF=0.0229;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11597201;CLNALLELEID=253891;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0357;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.1121;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0220;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.05;ExAC_nontcga_SAS=0.0278;AF=0.0537;AF_popmax=0.1041;AF_male=0.0536;AF_female=0.0538;AF_raw=0.0537;AF_afr=0.1041;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0399;AF_fin=0.0247;AF_asj=0.0483;AF_oth=0.0432;non_topmed_AF_popmax=0.1045;non_neuro_AF_popmax=0.0979;non_cancer_AF_popmax=.;controls_AF_popmax=0.0960;Kaviar_AF=0.0324575;Kaviar_AC=5018;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.207180;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88476105 rs141870580 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8283;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.C923G:p.P308R,LDB3:NM_007078:exon9:c.C1253G:p.P418R,LDB3:NM_001171610:exon10:c.C1268G:p.P423R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141870580;CLNALLELEID=397602;CLNDN=Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.126;SIFT_converted_rankscore=0.682;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.857;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.394;LRT_converted_rankscore=0.132;LRT_pred=N;MutationTaster_score=0.779;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=0.79;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-1.82;PROVEAN_converted_rankscore=0.466;PROVEAN_pred=N;VEST3_score=0.504;VEST3_rankscore=0.610;MetaSVM_score=-0.786;MetaSVM_rankscore=0.560;MetaSVM_pred=T;MetaLR_score=0.245;MetaLR_rankscore=0.614;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.279;M-CAP_pred=T;REVEL_score=0.160;REVEL_rankscore=0.420;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.244;CADD_raw_rankscore=0.569;CADD_phred=23.9;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.400;Eigen-PC-raw=0.362;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=1.343;phyloP100way_vertebrate_rankscore=0.333;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=11.058;SiPhy_29way_logOdds_rankscore=0.470;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.961e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.752876;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88477932 rs149127817 CAT C 100 PASS AC=1;AF=0.00798722;AN=214;NS=2504;DP=20872;EAS_AF=0.0278;AMR_AF=0;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0.0031;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149127817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0242;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0032;AF=0.0025;AF_popmax=0.0256;AF_male=0.0029;AF_female=0.0020;AF_raw=0.0025;AF_afr=0.0044;AF_sas=.;AF_amr=0;AF_eas=0.0256;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0263;non_neuro_AF_popmax=0.0256;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0024321;Kaviar_AC=376;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 88485858 rs45529243 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=18448;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0106;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45529243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0089;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0;AF=0.0031;AF_popmax=0.0077;AF_male=0.0035;AF_female=0.0025;AF_raw=0.0031;AF_afr=0.0077;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.002044;Kaviar_AC=316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92672564 rs3939 T C 100 PASS AC=92;AF=0.354233;AN=214;NS=2504;DP=18743;EAS_AF=0.373;AMR_AF=0.4813;AFR_AF=0.1581;EUR_AF=0.4573;SAS_AF=0.4039;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=ANKRD1;GeneDetail.refGene=NM_014391:c.*59A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.354233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3939;CLNALLELEID=323274;CLNDN=Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3920;AF_popmax=0.4846;AF_male=0.3847;AF_female=0.4010;AF_raw=0.3919;AF_afr=0.2072;AF_sas=.;AF_amr=0.4846;AF_eas=0.3243;AF_nfe=0.4788;AF_fin=0.4491;AF_asj=0.4690;AF_oth=0.4603;non_topmed_AF_popmax=0.4913;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.4827;Kaviar_AF=0.0868359;Kaviar_AC=13425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +10 92675649 rs3839929 GA G 100 PASS AC=39;AF=0.178714;AN=214;NS=2504;DP=13104;EAS_AF=0.1637;AMR_AF=0.1542;AFR_AF=0.2451;EUR_AF=0.1571;SAS_AF=0.1442;AA=AAAA|AAAA|AAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.178714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3839929;CLNALLELEID=198340;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1575;ExAC_nontcga_ALL=0.1628;ExAC_nontcga_AFR=0.2429;ExAC_nontcga_AMR=0.1148;ExAC_nontcga_EAS=0.1695;ExAC_nontcga_FIN=0.1637;ExAC_nontcga_NFE=0.1653;ExAC_nontcga_OTH=0.1440;ExAC_nontcga_SAS=0.1397;AF=0.1799;AF_popmax=0.2212;AF_male=0.1806;AF_female=0.1789;AF_raw=0.1802;AF_afr=0.2212;AF_sas=.;AF_amr=0.1274;AF_eas=0.1556;AF_nfe=0.1706;AF_fin=0.1563;AF_asj=0.0862;AF_oth=0.1565;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2268;non_cancer_AF_popmax=.;controls_AF_popmax=0.225;Kaviar_AF=0.0044243;Kaviar_AC=684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 +10 92675857 rs150275749 G A 100 PASS AC=16;AF=0.0621006;AN=214;NS=2504;DP=3548;EAS_AF=0.003;AMR_AF=0.036;AFR_AF=0.1203;EUR_AF=0.0477;SAS_AF=0.0777;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150275749;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0349;AF_popmax=0.0697;AF_male=0.0367;AF_female=0.0325;AF_raw=0.0491;AF_afr=0.0697;AF_sas=.;AF_amr=0.0349;AF_eas=0;AF_nfe=0.0270;AF_fin=0.0158;AF_asj=0.0701;AF_oth=0.0244;non_topmed_AF_popmax=0.0688;non_neuro_AF_popmax=0.0731;non_cancer_AF_popmax=.;controls_AF_popmax=0.0784;Kaviar_AF=0.005194;Kaviar_AC=803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +10 92678728 rs142354133 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=10544;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANKRD1:NM_014391:exon4:c.C347T:p.T116M;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142354133;CLNALLELEID=229953;CLNDN=ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119551|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.121;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.771;Polyphen2_HDIV_rankscore=0.420;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.507;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.400;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.495;MutationTaster_pred=D;MutationAssessor_score=1.64;MutationAssessor_score_rankscore=0.420;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.761;VEST3_rankscore=0.759;MetaSVM_score=-0.724;MetaSVM_rankscore=0.593;MetaSVM_pred=T;MetaLR_score=0.213;MetaLR_rankscore=0.574;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.468;M-CAP_pred=T;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.758;CADD_raw_rankscore=0.509;CADD_phred=23.3;DANN_score=0.995;DANN_rankscore=0.704;fathmm-MKL_coding_score=0.850;fathmm-MKL_coding_rankscore=0.438;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.314;Eigen-PC-raw=0.421;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.628;integrated_fitCons_score_rankscore=0.401;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=3.366;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=13.076;SiPhy_29way_logOdds_rankscore=0.583;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9791;dbscSNV_RF_SCORE=0.746;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=0;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0010;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0006;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.883274;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678744 rs11595794 A T 100 PASS AC=170;AF=0.810104;AN=214;NS=2504;DP=8091;EAS_AF=0.7857;AMR_AF=0.8746;AFR_AF=0.8555;EUR_AF=0.7614;SAS_AF=0.7781;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.810104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11595794;CLNALLELEID=140106;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.0187;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0.0090;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.0485;AF=0.0061;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0061;AF_raw=0.0096;AF_afr=0.0040;AF_sas=.;AF_amr=0.0032;AF_eas=0.0008;AF_nfe=0.0083;AF_fin=0.0020;AF_asj=0.0076;AF_oth=0.0068;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0436799;Kaviar_AC=6753;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 +10 92678747 rs200503746 A G 100 PASS AC=92;AF=0.357827;AN=214;NS=2504;DP=7562;EAS_AF=0.3681;AMR_AF=0.4885;AFR_AF=0.1604;EUR_AF=0.4622;SAS_AF=0.4141;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.357827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200503746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0116881;Kaviar_AC=1807;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +10 92678748 rs10881854 A T 100 PASS AC=169;AF=0.784545;AN=214;NS=2504;DP=7316;EAS_AF=0.7351;AMR_AF=0.8573;AFR_AF=0.8162;EUR_AF=0.7604;SAS_AF=0.7658;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.784545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10881854;CLNALLELEID=140105;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0586;ExAC_nontcga_AFR=0.0277;ExAC_nontcga_AMR=0.0167;ExAC_nontcga_EAS=0.0592;ExAC_nontcga_FIN=0.008;ExAC_nontcga_NFE=0.0446;ExAC_nontcga_OTH=0.1296;ExAC_nontcga_SAS=0.0982;AF=0.0552;AF_popmax=0.0736;AF_male=0.0561;AF_female=0.0540;AF_raw=0.0698;AF_afr=0.0736;AF_sas=.;AF_amr=0.0223;AF_eas=0.0350;AF_nfe=0.0602;AF_fin=0.0064;AF_asj=0.0365;AF_oth=0.0404;non_topmed_AF_popmax=0.0732;non_neuro_AF_popmax=0.0777;non_cancer_AF_popmax=.;controls_AF_popmax=0.0775;Kaviar_AF=0.0038874;Kaviar_AC=601;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 +10 92678761 rs571594500 A C 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7734;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571594500;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678762 rs534258222 T A 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7230;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534258222;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678764 rs199889145 T A 100 PASS AC=4;AF=0.00419329;AN=214;NS=2504;DP=7515;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0072;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199889145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92678765 rs56177217 A G 100 PASS AC=112;AF=0.441094;AN=214;NS=2504;DP=7755;EAS_AF=0.4355;AMR_AF=0.6124;AFR_AF=0.2247;EUR_AF=0.5408;SAS_AF=0.5153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.441094;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56177217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6451;ExAC_nontcga_AFR=0.4866;ExAC_nontcga_AMR=0.7004;ExAC_nontcga_EAS=0.6590;ExAC_nontcga_FIN=0.6581;ExAC_nontcga_NFE=0.6760;ExAC_nontcga_OTH=0.6310;ExAC_nontcga_SAS=0.5527;AF=0.4698;AF_popmax=0.6295;AF_male=0.4584;AF_female=0.4842;AF_raw=0.4337;AF_afr=0.2454;AF_sas=.;AF_amr=0.6295;AF_eas=0.3423;AF_nfe=0.5533;AF_fin=0.6573;AF_asj=0.5037;AF_oth=0.5563;non_topmed_AF_popmax=0.6465;non_neuro_AF_popmax=0.5893;non_cancer_AF_popmax=.;controls_AF_popmax=0.7143;Kaviar_AF=0.428274;Kaviar_AC=66212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 +10 92678789 rs191952911 T C 100 PASS AC=5;AF=0.00319489;AN=214;NS=2504;DP=10311;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191952911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0062;AF_popmax=0.0085;AF_male=0.0062;AF_female=0.0062;AF_raw=0.0061;AF_afr=0.0019;AF_sas=.;AF_amr=0.0039;AF_eas=0;AF_nfe=0.0085;AF_fin=0.0081;AF_asj=0.0070;AF_oth=0.0090;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0014036;Kaviar_AC=217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 92680886 rs549813663 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15864;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=ANKRD1;GeneDetail.refGene=NM_014391:c.-102C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549813663;CLNALLELEID=317252;CLNDN=Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0012;AF_male=0.0002;AF_female=7.179e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1645377|N/A|FOXA1|PAZAR,OREG1180501|N/A|TFAP2C|PAZAR,OREG1586947|N/A|FOXA1|PAZAR,OREG1670379|N/A|GATA2|PAZAR,OREG1891617|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.369042;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 101473218 rs2231687 A G 100 PASS AC=188;AF=0.827077;AN=214;NS=2504;DP=17799;EAS_AF=0.7817;AMR_AF=0.8746;AFR_AF=0.7542;EUR_AF=0.8787;SAS_AF=0.8855;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=COX15:NM_004376:exon9:c.T1120C:p.F374L;1000g2015aug_all=0.827077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231687;CLNALLELEID=134284;CLNDN=Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=0.62;PROVEAN_converted_rankscore=0.024;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-1.050;MetaSVM_rankscore=0.144;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.914;CADD_raw_rankscore=0.181;CADD_phred=10.16;DANN_score=0.868;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.076;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.860;Eigen-PC-raw=-0.946;GenoCanyon_score=0.983;GenoCanyon_score_rankscore=0.305;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.947;GERP++_RS_rankscore=0.186;phyloP100way_vertebrate=0.011;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=0.854;phyloP20way_mammalian_rankscore=0.373;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.252;phastCons20way_mammalian_rankscore=0.228;SiPhy_29way_logOdds=3.913;SiPhy_29way_logOdds_rankscore=0.086;Interpro_domain=.;GTEx_V6p_gene=ENSG00000155287.6|ENSG00000198018.6|ENSG00000198018.6;GTEx_V6p_tissue=Adrenal_Gland|Cells_Transformed_fibroblasts|Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8733;ExAC_nontcga_ALL=0.8610;ExAC_nontcga_AFR=0.7624;ExAC_nontcga_AMR=0.8994;ExAC_nontcga_EAS=0.7742;ExAC_nontcga_FIN=0.8872;ExAC_nontcga_NFE=0.8731;ExAC_nontcga_OTH=0.8642;ExAC_nontcga_SAS=0.8799;AF=0.8429;AF_popmax=0.8874;AF_male=0.8379;AF_female=0.8492;AF_raw=0.8423;AF_afr=0.7600;AF_sas=.;AF_amr=0.8874;AF_eas=0.7880;AF_nfe=0.8812;AF_fin=0.8857;AF_asj=0.8241;AF_oth=0.8748;non_topmed_AF_popmax=0.8871;non_neuro_AF_popmax=0.8825;non_cancer_AF_popmax=.;controls_AF_popmax=0.9065;Kaviar_AF=0.843488;Kaviar_AC=130405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 +10 101474499 rs11190255 T C 100 PASS AC=50;AF=0.233427;AN=214;NS=2504;DP=19160;EAS_AF=0.2956;AMR_AF=0.2147;AFR_AF=0.1853;EUR_AF=0.3022;SAS_AF=0.1769;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11190255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2957;ExAC_nontcga_ALL=0.2547;ExAC_nontcga_AFR=0.1859;ExAC_nontcga_AMR=0.2094;ExAC_nontcga_EAS=0.2942;ExAC_nontcga_FIN=0.3486;ExAC_nontcga_NFE=0.2825;ExAC_nontcga_OTH=0.2254;ExAC_nontcga_SAS=0.1762;AF=0.2816;AF_popmax=0.3223;AF_male=0.2754;AF_female=0.2893;AF_raw=0.2815;AF_afr=0.1890;AF_sas=.;AF_amr=0.2005;AF_eas=0.3185;AF_nfe=0.3223;AF_fin=0.3396;AF_asj=0.1538;AF_oth=0.3054;non_topmed_AF_popmax=0.3312;non_neuro_AF_popmax=0.3249;non_cancer_AF_popmax=.;controls_AF_popmax=0.3645;Kaviar_AF=0.256614;Kaviar_AC=39673;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.248106::0.387049;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 +10 101487354 rs78915941 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19790;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78915941;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0022;AF_male=0.0012;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0022;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112404302 rs35141404 G A 100 PASS AC=32;AF=0.222244;AN=214;NS=2504;DP=7996;EAS_AF=0.1617;AMR_AF=0.1354;AFR_AF=0.4206;EUR_AF=0.1392;SAS_AF=0.1636;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon1:c.G90A:p.R30R;1000g2015aug_all=0.222244;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35141404;CLNALLELEID=53197;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1482;ExAC_nontcga_AFR=0.4244;ExAC_nontcga_AMR=0.1695;ExAC_nontcga_EAS=0.1429;ExAC_nontcga_FIN=0.4;ExAC_nontcga_NFE=0.1268;ExAC_nontcga_OTH=0.1339;ExAC_nontcga_SAS=0.1378;AF=0.2004;AF_popmax=0.3740;AF_male=0.2022;AF_female=0.1981;AF_raw=0.2002;AF_afr=0.3740;AF_sas=.;AF_amr=0.1132;AF_eas=0.1568;AF_nfe=0.1405;AF_fin=0.1016;AF_asj=0.1181;AF_oth=0.1308;non_topmed_AF_popmax=0.3739;non_neuro_AF_popmax=0.3737;non_cancer_AF_popmax=.;controls_AF_popmax=0.3674;Kaviar_AF=0.0450188;Kaviar_AC=6960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000033358|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.728733;ALLELE_END;VINYL_score=2 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +10 112541062 rs61735268 G A 100 PASS AC=1;AF=0.0271565;AN=214;NS=2504;DP=20395;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0976;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.G695A:p.G232D;1000g2015aug_all=0.0271565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735268;CLNALLELEID=53193;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.972;Polyphen2_HDIV_rankscore=0.554;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.573;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.791;MutationTaster_converted_rankscore=0.344;MutationTaster_pred=D;MutationAssessor_score=2.555;MutationAssessor_score_rankscore=0.748;MutationAssessor_pred=M;FATHMM_score=-2.91;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-2.5;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=D;VEST3_score=0.158;VEST3_rankscore=0.189;MetaSVM_score=-0.242;MetaSVM_rankscore=0.766;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.408;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.311;REVEL_rankscore=0.637;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.048;CADD_raw_rankscore=0.680;CADD_phred=25.2;DANN_score=0.997;DANN_rankscore=0.795;fathmm-MKL_coding_score=0.836;fathmm-MKL_coding_rankscore=0.424;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.389;Eigen-PC-raw=0.451;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=2.971;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=12.738;SiPhy_29way_logOdds_rankscore=0.564;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0003;AF=0.0227;AF_popmax=0.0786;AF_male=0.0224;AF_female=0.0229;AF_raw=0.0228;AF_afr=0.0786;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0780;non_neuro_AF_popmax=0.0816;non_cancer_AF_popmax=.;controls_AF_popmax=0.0813;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.772611;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541073 rs143841298 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20308;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.T706C:p.S236P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143841298;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.167;SIFT_converted_rankscore=0.231;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-2.71;FATHMM_converted_rankscore=0.906;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.078;VEST3_rankscore=0.069;MetaSVM_score=-0.696;MetaSVM_rankscore=0.607;MetaSVM_pred=T;MetaLR_score=0.412;MetaLR_rankscore=0.760;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.546;M-CAP_pred=D;REVEL_score=0.176;REVEL_rankscore=0.449;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.375;CADD_raw_rankscore=0.063;CADD_phred=0.443;DANN_score=0.899;DANN_rankscore=0.186;fathmm-MKL_coding_score=0.165;fathmm-MKL_coding_rankscore=0.192;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.155;Eigen-PC-raw=-1.215;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-8.21;GERP++_RS_rankscore=0.009;phyloP100way_vertebrate=-1.043;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.094;phastCons20way_mammalian_rankscore=0.187;SiPhy_29way_logOdds=2.053;SiPhy_29way_logOdds_rankscore=0.033;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR,OREG1528648|N/A|ESR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.808133;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541335 rs568559249 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18364;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.A968G:p.H323R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568559249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.319;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.057;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.819;LRT_converted_rankscore=0.069;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.892;FATHMM_pred=D;PROVEAN_score=0.1;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.100;MetaSVM_score=-0.690;MetaSVM_rankscore=0.610;MetaSVM_pred=T;MetaLR_score=0.398;MetaLR_rankscore=0.750;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.648;M-CAP_pred=D;REVEL_score=0.173;REVEL_rankscore=0.443;MutPred_score=0.192;MutPred_rankscore=0.103;CADD_raw=-0.710;CADD_raw_rankscore=0.044;CADD_phred=0.068;DANN_score=0.332;DANN_rankscore=0.020;fathmm-MKL_coding_score=0.154;fathmm-MKL_coding_rankscore=0.187;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.763;Eigen-PC-raw=-0.628;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.352;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.52;GERP++_RS_rankscore=0.393;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.116;phyloP20way_mammalian_rankscore=0.208;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=7.789;SiPhy_29way_logOdds_rankscore=0.281;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1515382|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.868653;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112541676 rs61862866 T C 100 PASS AC=52;AF=0.132987;AN=214;NS=2504;DP=18214;EAS_AF=0.0298;AMR_AF=0.1816;AFR_AF=0.0295;EUR_AF=0.2565;SAS_AF=0.2178;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.132987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61862866;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2788;ExAC_nontcga_ALL=0.2371;ExAC_nontcga_AFR=0.0752;ExAC_nontcga_AMR=0.1973;ExAC_nontcga_EAS=0.0248;ExAC_nontcga_FIN=0.3194;ExAC_nontcga_NFE=0.2642;ExAC_nontcga_OTH=0.2584;ExAC_nontcga_SAS=0.2440;AF=0.2178;AF_popmax=0.2941;AF_male=0.2117;AF_female=0.2255;AF_raw=0.2192;AF_afr=0.0715;AF_sas=.;AF_amr=0.1710;AF_eas=0.0263;AF_nfe=0.2941;AF_fin=0.3303;AF_asj=0.1724;AF_oth=0.2772;non_topmed_AF_popmax=0.2956;non_neuro_AF_popmax=0.2910;non_cancer_AF_popmax=.;controls_AF_popmax=0.2876;Kaviar_AF=0.0663575;Kaviar_AC=10259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503030;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 +10 112541678 rs61862867 G A 100 PASS AC=52;AF=0.132987;AN=214;NS=2504;DP=18163;EAS_AF=0.0298;AMR_AF=0.1816;AFR_AF=0.0295;EUR_AF=0.2565;SAS_AF=0.2178;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.132987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61862867;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2370;ExAC_nontcga_AFR=0.0752;ExAC_nontcga_AMR=0.1973;ExAC_nontcga_EAS=0.0248;ExAC_nontcga_FIN=0.3194;ExAC_nontcga_NFE=0.2641;ExAC_nontcga_OTH=0.2584;ExAC_nontcga_SAS=0.2439;AF=0.2176;AF_popmax=0.2937;AF_male=0.2115;AF_female=0.2254;AF_raw=0.2190;AF_afr=0.0715;AF_sas=.;AF_amr=0.1710;AF_eas=0.0263;AF_nfe=0.2937;AF_fin=0.3305;AF_asj=0.1724;AF_oth=0.2772;non_topmed_AF_popmax=0.2953;non_neuro_AF_popmax=0.2907;non_cancer_AF_popmax=.;controls_AF_popmax=0.2873;Kaviar_AF=0.0656719;Kaviar_AC=10153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503030;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 +10 112543217 rs6585012 G A 100 PASS AC=153;AF=0.788139;AN=214;NS=2504;DP=20013;EAS_AF=0.9673;AMR_AF=0.8256;AFR_AF=0.584;EUR_AF=0.7575;SAS_AF=0.8845;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.788139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6585012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7879;ExAC_nontcga_ALL=0.8129;ExAC_nontcga_AFR=0.6064;ExAC_nontcga_AMR=0.8421;ExAC_nontcga_EAS=0.9720;ExAC_nontcga_FIN=0.8024;ExAC_nontcga_NFE=0.7941;ExAC_nontcga_OTH=0.8090;ExAC_nontcga_SAS=0.8638;AF=0.7643;AF_popmax=0.9659;AF_male=0.7655;AF_female=0.7626;AF_raw=0.7640;AF_afr=0.6224;AF_sas=.;AF_amr=0.8073;AF_eas=0.9659;AF_nfe=0.8054;AF_fin=0.8254;AF_asj=0.7690;AF_oth=0.7960;non_topmed_AF_popmax=0.9664;non_neuro_AF_popmax=0.9659;non_cancer_AF_popmax=.;controls_AF_popmax=0.9737;Kaviar_AF=0.263664;Kaviar_AC=40763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|0 0|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +10 112544042 rs528972311 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20499;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528972311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544063 rs7898438 A C 100 PASS AC=109;AF=0.633986;AN=214;NS=2504;DP=20444;EAS_AF=0.8899;AMR_AF=0.611;AFR_AF=0.4266;EUR_AF=0.5318;SAS_AF=0.772;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.633986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7898438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5698;ExAC_nontcga_ALL=0.6739;ExAC_nontcga_AFR=0.4379;ExAC_nontcga_AMR=0.6715;ExAC_nontcga_EAS=0.9062;ExAC_nontcga_FIN=0.6875;ExAC_nontcga_NFE=0.5832;ExAC_nontcga_OTH=0.6349;ExAC_nontcga_SAS=0.7638;AF=0.5572;AF_popmax=0.8659;AF_male=0.5589;AF_female=0.5551;AF_raw=0.5568;AF_afr=0.4322;AF_sas=.;AF_amr=0.6714;AF_eas=0.8659;AF_nfe=0.5766;AF_fin=0.5990;AF_asj=0.5931;AF_oth=0.6079;non_topmed_AF_popmax=0.8658;non_neuro_AF_popmax=0.8659;non_cancer_AF_popmax=.;controls_AF_popmax=0.8832;Kaviar_AF=0.189073;Kaviar_AC=29231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 1|1 1|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 +10 112544244 rs142795922 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=21592;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0358;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142795922;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0071;AF_male=0.0029;AF_female=0.0018;AF_raw=0.0024;AF_afr=0.0008;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0062241;Kaviar_AC=162;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.775845;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544505 rs150879743 G T 100 PASS AC=4;AF=0.00139776;AN=214;NS=2504;DP=22419;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150879743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0294;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0;AF=0.0033;AF_popmax=0.0033;AF_male=0.0028;AF_female=0.0039;AF_raw=0.0033;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0115;AF_asj=0.0207;AF_oth=0.0028;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009896;Kaviar_AC=153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112544655 rs7077757 C T 100 PASS AC=41;AF=0.164137;AN=214;NS=2504;DP=22461;EAS_AF=0.0784;AMR_AF=0.2147;AFR_AF=0.2042;EUR_AF=0.2217;SAS_AF=0.1033;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.164137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7077757;CLNALLELEID=53143;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.2200;ExAC_nontcga_ALL=0.1476;ExAC_nontcga_AFR=0.2259;ExAC_nontcga_AMR=0.1769;ExAC_nontcga_EAS=0.0652;ExAC_nontcga_FIN=0.2059;ExAC_nontcga_NFE=0.2057;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.0995;AF=0.2152;AF_popmax=0.2280;AF_male=0.2147;AF_female=0.2159;AF_raw=0.2154;AF_afr=0.2227;AF_sas=.;AF_amr=0.1427;AF_eas=0.0968;AF_nfe=0.2280;AF_fin=0.2249;AF_asj=0.1828;AF_oth=0.1774;non_topmed_AF_popmax=0.2296;non_neuro_AF_popmax=0.2295;non_cancer_AF_popmax=.;controls_AF_popmax=0.2351;Kaviar_AF=0.0562541;Kaviar_AC=8697;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.560524;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 +10 112559490 rs559309808 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23163;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559309808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112559652 rs530071637 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23354;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon7:c.G1776A:p.K592K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530071637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.842735;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570130 rs12572941 G C 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=19385;EAS_AF=0.0228;AMR_AF=0.013;AFR_AF=0.0272;EUR_AF=0.0199;SAS_AF=0.0971;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12572941;CLNALLELEID=53145;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.0245;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0310;ExAC_nontcga_AMR=0.0238;ExAC_nontcga_EAS=0.0311;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0268;ExAC_nontcga_OTH=0.0618;ExAC_nontcga_SAS=0.0898;AF=0.0259;AF_popmax=0.0327;AF_male=0.0259;AF_female=0.0259;AF_raw=0.0259;AF_afr=0.0263;AF_sas=.;AF_amr=0.0177;AF_eas=0.0327;AF_nfe=0.0222;AF_fin=0.0348;AF_asj=0.0172;AF_oth=0.0450;non_topmed_AF_popmax=0.0329;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0371;Kaviar_AF=0.0121538;Kaviar_AC=1879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.309749;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570147 rs558674954 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon8:c.G1807A:p.G603R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558674954;CLNALLELEID=258623;CLNDN=Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-3.13;FATHMM_converted_rankscore=0.928;FATHMM_pred=D;PROVEAN_score=-4.17;PROVEAN_converted_rankscore=0.754;PROVEAN_pred=D;VEST3_score=0.769;VEST3_rankscore=0.762;MetaSVM_score=0.739;MetaSVM_rankscore=0.937;MetaSVM_pred=D;MetaLR_score=0.802;MetaLR_rankscore=0.933;MetaLR_pred=D;M-CAP_score=0.409;M-CAP_rankscore=0.936;M-CAP_pred=D;REVEL_score=0.645;REVEL_rankscore=0.867;MutPred_score=0.438;MutPred_rankscore=0.492;CADD_raw=7.468;CADD_raw_rankscore=0.952;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.921;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.759;Eigen-PC-raw=0.811;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=8.704;phyloP100way_vertebrate_rankscore=0.910;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.907;phastCons20way_mammalian_rankscore=0.385;SiPhy_29way_logOdds=20.450;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.982e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.751411;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112570243 rs11195338 T C 100 PASS AC=91;AF=0.316494;AN=214;NS=2504;DP=18917;EAS_AF=0.5506;AMR_AF=0.2867;AFR_AF=0.1014;EUR_AF=0.3787;SAS_AF=0.3231;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.316494;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11195338;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3755;ExAC_nontcga_ALL=0.3499;ExAC_nontcga_AFR=0.1405;ExAC_nontcga_AMR=0.3483;ExAC_nontcga_EAS=0.5531;ExAC_nontcga_FIN=0.4163;ExAC_nontcga_NFE=0.3967;ExAC_nontcga_OTH=0.3837;ExAC_nontcga_SAS=0.3392;AF=0.3203;AF_popmax=0.5032;AF_male=0.3164;AF_female=0.3251;AF_raw=0.3203;AF_afr=0.1529;AF_sas=.;AF_amr=0.2818;AF_eas=0.5032;AF_nfe=0.3712;AF_fin=0.4122;AF_asj=0.4586;AF_oth=0.3775;non_topmed_AF_popmax=0.5033;non_neuro_AF_popmax=0.5032;non_cancer_AF_popmax=.;controls_AF_popmax=0.4802;Kaviar_AF=0.11276;Kaviar_AC=17433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000949941|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.073799;ALLELE_END;VINYL_score=2 GT 0|0 1|1 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 1|1 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|1 1|1 1|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|1 1|0 0|1 0|1 0|1 +10 112572147 rs41292592 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14922;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.C1992T:p.P664P;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292592;CLNALLELEID=53151;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0020;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.872771;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112572458 rs1417635 G C 100 PASS AC=214;AF=0.991014;AN=214;NS=2504;DP=17215;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.969;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;1000g2015aug_all=0.991014;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1417635;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9967;ExAC_nontcga_AFR=0.9664;ExAC_nontcga_AMR=0.9932;ExAC_nontcga_EAS=0.9969;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9920;AF_popmax=1;AF_male=0.9919;AF_female=0.9922;AF_raw=0.9920;AF_afr=0.9721;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000415671|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1416621|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.800262;ALLELE_END;VINYL_score=4.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 112579791 rs143080581 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20863;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143080581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0003;AF_popmax=0.0003;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.602422;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112583178 rs557837391 ATGTTGTATTTCTT A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=20687;EAS_AF=0.004;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.005;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557837391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193056|N/A|TFAP2C|PAZAR,OREG1601177|N/A|FOXA1|PAZAR,OREG1659450|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.877816,96.419048;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112583294 rs116908219 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17878;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon12:c.G3373A:p.E1125K;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116908219;CLNALLELEID=53177;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_rankscore=0.484;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.293;Polyphen2_HVAR_rankscore=0.390;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.416;MutationTaster_pred=D;MutationAssessor_score=1.78;MutationAssessor_score_rankscore=0.463;MutationAssessor_pred=L;FATHMM_score=-0.91;FATHMM_converted_rankscore=0.750;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.424;PROVEAN_pred=N;VEST3_score=0.834;VEST3_rankscore=0.821;MetaSVM_score=-0.499;MetaSVM_rankscore=0.687;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_rankscore=0.583;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.261;M-CAP_pred=T;REVEL_score=0.324;REVEL_rankscore=0.650;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.854;CADD_raw_rankscore=0.520;CADD_phred=23.4;DANN_score=0.997;DANN_rankscore=0.838;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_rankscore=0.293;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.448;Eigen-PC-raw=0.543;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=3.326;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=13.979;SiPhy_29way_logOdds_rankscore=0.636;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0027;AF_popmax=0.0043;AF_male=0.0025;AF_female=0.0030;AF_raw=0.0027;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0012;AF_asj=0.0241;AF_oth=0.0019;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0010349;Kaviar_AC=160;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1659450|N/A|FOXA1|PAZAR,OREG1601177|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.715618;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112590778 rs74407586 G C 100 PASS AC=1;AF=0.0407348;AN=214;NS=2504;DP=20260;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.146;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74407586;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0149;ExAC_nontcga_AFR=0.1230;ExAC_nontcga_AMR=0.0143;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0334;AF_popmax=0.1185;AF_male=0.0343;AF_female=0.0323;AF_raw=0.0336;AF_afr=0.1185;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.1182;non_neuro_AF_popmax=0.1336;non_cancer_AF_popmax=.;controls_AF_popmax=0.1257;Kaviar_AF=0.0041073;Kaviar_AC=635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.774143;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112590810 rs7070640 G C 100 PASS AC=214;AF=0.969649;AN=214;NS=2504;DP=21655;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7070640;CLNALLELEID=53180;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9887;ExAC_nontcga_AFR=0.8922;ExAC_nontcga_AMR=0.9966;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9996;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9723;AF_popmax=1;AF_male=0.9702;AF_female=0.9751;AF_raw=0.9723;AF_afr=0.9018;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.305209;Kaviar_AC=47186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +10 112590980 rs144120562 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20926;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144120562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.942e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 112595719 rs942077 G C 100 PASS AC=172;AF=0.697085;AN=214;NS=2504;DP=19393;EAS_AF=0.7956;AMR_AF=0.7983;AFR_AF=0.4334;EUR_AF=0.8688;SAS_AF=0.7035;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;1000g2015aug_all=0.697085;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs942077;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_rankscore=0.442;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_rankscore=0.400;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_converted_rankscore=0.390;MutationTaster_pred=P;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.99;FATHMM_converted_rankscore=0.921;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.204;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.083;MetaSVM_score=-0.917;MetaSVM_rankscore=0.460;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.504;CADD_raw_rankscore=0.748;CADD_phred=26.3;DANN_score=0.997;DANN_rankscore=0.781;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.814;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.260;Eigen-PC-raw=0.309;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=4.123;phyloP100way_vertebrate_rankscore=0.574;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.433;phastCons20way_mammalian_rankscore=0.260;SiPhy_29way_logOdds=17.448;SiPhy_29way_logOdds_rankscore=0.874;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8724;ExAC_nontcga_ALL=0.7475;ExAC_nontcga_AFR=0.4874;ExAC_nontcga_AMR=0.8194;ExAC_nontcga_EAS=0.7950;ExAC_nontcga_FIN=0.9118;ExAC_nontcga_NFE=0.8684;ExAC_nontcga_OTH=0.7917;ExAC_nontcga_SAS=0.7207;AF=0.7569;AF_popmax=0.8763;AF_male=0.7522;AF_female=0.7629;AF_raw=0.7563;AF_afr=0.4841;AF_sas=.;AF_amr=0.7842;AF_eas=0.7943;AF_nfe=0.8763;AF_fin=0.8579;AF_asj=0.8414;AF_oth=0.8238;non_topmed_AF_popmax=0.8840;non_neuro_AF_popmax=0.8755;non_cancer_AF_popmax=.;controls_AF_popmax=0.8931;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000415679|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609389;ALLELE_END;VINYL_score=5 GT 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 +10 121429394 rs35434411 G A 100 PASS AC=7;AF=0.00738818;AN=214;NS=2504;DP=16284;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G212A:p.R71Q;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35434411;CLNALLELEID=53947;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.49;SIFT_converted_rankscore=0.080;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_converted_rankscore=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.455;MutationAssessor_score_rankscore=0.369;MutationAssessor_pred=L;FATHMM_score=-0.81;FATHMM_converted_rankscore=0.740;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_converted_rankscore=0.036;PROVEAN_pred=N;VEST3_score=0.038;VEST3_rankscore=0.106;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.316;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.270;CADD_raw_rankscore=0.334;CADD_phred=17.97;DANN_score=0.987;DANN_rankscore=0.450;fathmm-MKL_coding_score=0.222;fathmm-MKL_coding_rankscore=0.215;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.410;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.432;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=3.12;GERP++_RS_rankscore=0.348;phyloP100way_vertebrate=1.128;phyloP100way_vertebrate_rankscore=0.308;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=0.118;phastCons100way_vertebrate_rankscore=0.229;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=10.329;SiPhy_29way_logOdds_rankscore=0.428;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0326;ExAC_nontcga_ALL=0.0193;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0089;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0355;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0031;AF=0.0245;AF_popmax=0.0354;AF_male=0.0228;AF_female=0.0267;AF_raw=0.0246;AF_afr=0.0053;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0354;AF_fin=0.0374;AF_asj=0.0034;AF_oth=0.0350;non_topmed_AF_popmax=0.0372;non_neuro_AF_popmax=0.0359;non_cancer_AF_popmax=.;controls_AF_popmax=0.0423;Kaviar_AF=0.0204525;Kaviar_AC=3162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.819489;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121429412 rs141355480 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16165;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.C230T:p.P77L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141355480;CLNALLELEID=174610;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.497;SIFT_converted_rankscore=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_converted_rankscore=0.275;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-2.44;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.753;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.294;MetaSVM_score=-0.924;MetaSVM_rankscore=0.451;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.327;MetaLR_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.341;M-CAP_pred=T;REVEL_score=0.127;REVEL_rankscore=0.354;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.270;CADD_raw_rankscore=0.120;CADD_phred=5.403;DANN_score=0.565;DANN_rankscore=0.054;fathmm-MKL_coding_score=0.019;fathmm-MKL_coding_rankscore=0.058;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.430;Eigen-PC-raw=-1.350;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.402;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=-1.64;GERP++_RS_rankscore=0.078;phyloP100way_vertebrate=-0.093;phyloP100way_vertebrate_rankscore=0.110;phyloP20way_mammalian=0.120;phyloP20way_mammalian_rankscore=0.210;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.109;phastCons20way_mammalian_rankscore=0.192;SiPhy_29way_logOdds=6.274;SiPhy_29way_logOdds_rankscore=0.201;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.281516;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121429633 rs2234962 T C 100 PASS AC=34;AF=0.0964457;AN=214;NS=2504;DP=16366;EAS_AF=0.002;AMR_AF=0.1037;AFR_AF=0.0106;EUR_AF=0.2187;SAS_AF=0.1789;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;1000g2015aug_all=0.0964457;GWAS=rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883;ORegAnno_REGULATORY_P=rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883;avsnp150=rs2234962;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_rankscore=0.391;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_rankscore=0.399;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_converted_rankscore=0.154;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-1.02;FATHMM_converted_rankscore=0.794;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.886;PROVEAN_pred=N;VEST3_score=0.177;VEST3_rankscore=0.348;MetaSVM_score=-1.099;MetaSVM_rankscore=0.042;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.280;REVEL_rankscore=0.602;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.176;CADD_raw_rankscore=0.560;CADD_phred=23.8;DANN_score=0.986;DANN_rankscore=0.434;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.515;Eigen-PC-raw=-0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=0.064;GERP++_RS_rankscore=0.136;phyloP100way_vertebrate=0.566;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=0.123;phyloP20way_mammalian_rankscore=0.211;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.413;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2073;ExAC_nontcga_ALL=0.1756;ExAC_nontcga_AFR=0.0369;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.2257;ExAC_nontcga_NFE=0.2235;ExAC_nontcga_OTH=0.1919;ExAC_nontcga_SAS=0.2109;AF=0.1479;AF_popmax=0.2060;AF_male=0.1433;AF_female=0.1537;AF_raw=0.1484;AF_afr=0.0363;AF_sas=.;AF_amr=0.1061;AF_eas=0.0032;AF_nfe=0.2060;AF_fin=0.2330;AF_asj=0.2049;AF_oth=0.1716;non_topmed_AF_popmax=0.2021;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.1948;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802511;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +10 121429645 rs61756328 G A 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=15597;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.G463A:p.A155T;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756328;CLNALLELEID=53951;CLNDN=Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.802;SIFT_converted_rankscore=0.036;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_converted_rankscore=0.222;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.755;MutationAssessor_score_rankscore=0.192;MutationAssessor_pred=N;FATHMM_score=-0.74;FATHMM_converted_rankscore=0.733;FATHMM_pred=T;PROVEAN_score=0.56;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.288;MetaSVM_score=-1.060;MetaSVM_rankscore=0.118;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.358;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.223;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.668;CADD_raw_rankscore=0.158;CADD_phred=8.614;DANN_score=0.774;DANN_rankscore=0.115;fathmm-MKL_coding_score=0.203;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.950;Eigen-PC-raw=-0.880;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.834;integrated_fitCons_score_rankscore=0.999;integrated_confidence_value=0;GERP++_RS=1.69;GERP++_RS_rankscore=0.232;phyloP100way_vertebrate=2.341;phyloP100way_vertebrate_rankscore=0.434;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.039;phastCons100way_vertebrate_rankscore=0.207;phastCons20way_mammalian=0.900;phastCons20way_mammalian_rankscore=0.381;SiPhy_29way_logOdds=0.918;SiPhy_29way_logOdds_rankscore=0.012;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0013;AF=0.0021;AF_popmax=0.0031;AF_male=0.0021;AF_female=0.0021;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0017;AF_asj=0.0172;AF_oth=0.0018;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0028525;Kaviar_AC=441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.637626;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121432040 rs548032105 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16049;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.C781T:p.R261W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548032105;CLNALLELEID=174891;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.085;SIFT_converted_rankscore=0.327;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.209;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.059;LRT_converted_rankscore=0.224;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.915;MutationAssessor_score_rankscore=0.234;MutationAssessor_pred=L;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-1.89;PROVEAN_converted_rankscore=0.723;PROVEAN_pred=N;VEST3_score=0.179;VEST3_rankscore=0.482;MetaSVM_score=-0.937;MetaSVM_rankscore=0.431;MetaSVM_pred=T;MetaLR_score=0.168;MetaLR_rankscore=0.507;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.496;M-CAP_pred=D;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=2.527;CADD_raw_rankscore=0.365;CADD_phred=19.64;DANN_score=0.981;DANN_rankscore=0.374;fathmm-MKL_coding_score=0.348;fathmm-MKL_coding_rankscore=0.249;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.911;Eigen-PC-raw=-0.881;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.488;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=1.374;phyloP100way_vertebrate_rankscore=0.337;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.272;phastCons100way_vertebrate_rankscore=0.248;phastCons20way_mammalian=0.027;phastCons20way_mammalian_rankscore=0.143;SiPhy_29way_logOdds=10.390;SiPhy_29way_logOdds_rankscore=0.432;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.833e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.846e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.185e-05;AF_popmax=0.0012;AF_male=0;AF_female=7.18e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688381;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +10 121435955 rs196294 A C 100 PASS AC=164;AF=0.635184;AN=214;NS=2504;DP=17134;EAS_AF=0.4633;AMR_AF=0.6931;AFR_AF=0.7216;EUR_AF=0.7485;SAS_AF=0.5378;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.635184;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs196294;CLNALLELEID=253698;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7245;ExAC_nontcga_ALL=0.6711;ExAC_nontcga_AFR=0.7189;ExAC_nontcga_AMR=0.6106;ExAC_nontcga_EAS=0.4999;ExAC_nontcga_FIN=0.6353;ExAC_nontcga_NFE=0.7296;ExAC_nontcga_OTH=0.7188;ExAC_nontcga_SAS=0.5881;AF=0.6949;AF_popmax=0.7204;AF_male=0.6963;AF_female=0.6932;AF_raw=0.6943;AF_afr=0.7099;AF_sas=.;AF_amr=0.6161;AF_eas=0.5065;AF_nfe=0.7204;AF_fin=0.6431;AF_asj=0.7759;AF_oth=0.6875;non_topmed_AF_popmax=0.7109;non_neuro_AF_popmax=0.7189;non_cancer_AF_popmax=.;controls_AF_popmax=0.7184;Kaviar_AF=0.666641;Kaviar_AC=103064;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.108166;ALLELE_END;VINYL_score=1 GT 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|1 +10 121436068 rs3858339 T G 100 PASS AC=23;AF=0.155751;AN=214;NS=2504;DP=16551;EAS_AF=0.254;AMR_AF=0.1744;AFR_AF=0.1664;EUR_AF=0.0964;SAS_AF=0.0879;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.T1002G:p.P334P;1000g2015aug_all=0.155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3858339;CLNALLELEID=53941;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0881;ExAC_nontcga_ALL=0.1153;ExAC_nontcga_AFR=0.1682;ExAC_nontcga_AMR=0.1802;ExAC_nontcga_EAS=0.2663;ExAC_nontcga_FIN=0.1030;ExAC_nontcga_NFE=0.0835;ExAC_nontcga_OTH=0.1354;ExAC_nontcga_SAS=0.0792;AF=0.1250;AF_popmax=0.2571;AF_male=0.1246;AF_female=0.1255;AF_raw=0.1253;AF_afr=0.1638;AF_sas=.;AF_amr=0.1596;AF_eas=0.2571;AF_nfe=0.0951;AF_fin=0.1005;AF_asj=0.0828;AF_oth=0.1123;non_topmed_AF_popmax=0.2550;non_neuro_AF_popmax=0.2571;non_cancer_AF_popmax=.;controls_AF_popmax=0.2626;Kaviar_AF=0.110755;Kaviar_AC=17123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.818653;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +10 121436100 rs189646603 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1034T:p.E345V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189646603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.964;Polyphen2_HDIV_rankscore=0.539;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.694;Polyphen2_HVAR_rankscore=0.521;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=-1.02;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.665;PROVEAN_pred=N;VEST3_score=0.604;VEST3_rankscore=0.628;MetaSVM_score=-0.179;MetaSVM_rankscore=0.782;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_rankscore=0.789;MetaLR_pred=T;M-CAP_score=0.075;M-CAP_rankscore=0.724;M-CAP_pred=D;REVEL_score=0.290;REVEL_rankscore=0.613;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.722;CADD_raw_rankscore=0.781;CADD_phred=26.9;DANN_score=0.995;DANN_rankscore=0.684;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.438;Eigen-PC-raw=0.493;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=4.812;phyloP100way_vertebrate_rankscore=0.621;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.302;SiPhy_29way_logOdds_rankscore=0.826;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835314;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +10 121436286 rs3858340 C T 100 PASS AC=23;AF=0.155551;AN=214;NS=2504;DP=16571;EAS_AF=0.253;AMR_AF=0.1744;AFR_AF=0.1664;EUR_AF=0.0964;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.C1220T:p.P407L;1000g2015aug_all=0.155551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3858340;CLNALLELEID=53943;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.191;Polyphen2_HDIV_rankscore=0.277;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_rankscore=0.291;Polyphen2_HVAR_pred=B;LRT_score=0.279;LRT_converted_rankscore=0.150;LRT_pred=N;MutationTaster_score=0.226;MutationTaster_converted_rankscore=0.342;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.068;VEST3_rankscore=0.055;MetaSVM_score=-1.093;MetaSVM_rankscore=0.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.244;CADD_raw_rankscore=0.449;CADD_phred=22.8;DANN_score=0.990;DANN_rankscore=0.490;fathmm-MKL_coding_score=0.738;fathmm-MKL_coding_rankscore=0.358;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.228;Eigen-PC-raw=-0.157;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=4.502;phyloP100way_vertebrate_rankscore=0.599;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.220;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.064;phastCons20way_mammalian_rankscore=0.173;SiPhy_29way_logOdds=20.260;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=BAG_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0877;ExAC_nontcga_ALL=0.1150;ExAC_nontcga_AFR=0.1679;ExAC_nontcga_AMR=0.1798;ExAC_nontcga_EAS=0.2650;ExAC_nontcga_FIN=0.1030;ExAC_nontcga_NFE=0.0833;ExAC_nontcga_OTH=0.1354;ExAC_nontcga_SAS=0.0785;AF=0.1254;AF_popmax=0.2597;AF_male=0.125;AF_female=0.1260;AF_raw=0.1254;AF_afr=0.1643;AF_sas=.;AF_amr=0.1616;AF_eas=0.2597;AF_nfe=0.0953;AF_fin=0.1005;AF_asj=0.0828;AF_oth=0.1121;non_topmed_AF_popmax=0.2576;non_neuro_AF_popmax=0.2597;non_cancer_AF_popmax=.;controls_AF_popmax=0.2637;Kaviar_AF=0.112547;Kaviar_AC=17400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.687790;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +10 121436362 rs196295 A G 100 PASS AC=176;AF=0.70647;AN=214;NS=2504;DP=19654;EAS_AF=0.4881;AMR_AF=0.7219;AFR_AF=0.7534;EUR_AF=0.8012;SAS_AF=0.7597;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;1000g2015aug_all=0.70647;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs196295;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7792;ExAC_nontcga_ALL=0.7370;ExAC_nontcga_AFR=0.7502;ExAC_nontcga_AMR=0.6299;ExAC_nontcga_EAS=0.5175;ExAC_nontcga_FIN=0.7299;ExAC_nontcga_NFE=0.7811;ExAC_nontcga_OTH=0.7695;ExAC_nontcga_SAS=0.7636;AF=0.7516;AF_popmax=0.7807;AF_male=0.7514;AF_female=0.7518;AF_raw=0.7514;AF_afr=0.7521;AF_sas=.;AF_amr=0.6445;AF_eas=0.5250;AF_nfe=0.7807;AF_fin=0.7415;AF_asj=0.8172;AF_oth=0.7574;non_topmed_AF_popmax=0.7726;non_neuro_AF_popmax=0.7805;non_cancer_AF_popmax=.;controls_AF_popmax=0.7607;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0003888|hsa-miR-766-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.820161;ALLELE_END;VINYL_score=2 GT 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|0 0|1 +11 533415 rs201986435 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.122e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0009;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.732043;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.122e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0009;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.732043;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533546 rs111352454 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=16077;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HRAS:NM_001318054:exon4:c.C38T:p.T13I;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111352454;CLNALLELEID=48911;CLNDN=Costello_syndrome|Rasopathy|not_specified;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0009;AF_popmax=0.0015;AF_male=0.0012;AF_female=0.0006;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR,OREG1848100|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.838963;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533664 rs143771550 T A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14291;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143771550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.653e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.375e-05;AF_popmax=0.0001;AF_male=5.729e-05;AF_female=7.185e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511148|N/A|EGR1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.071362;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 533821 rs193163027 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18297;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon3:c.C235G:p.L79V,HRAS:NM_005343:exon3:c.C235G:p.L79V,HRAS:NM_176795:exon3:c.C235G:p.L79V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193163027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.058;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=0.59;Polyphen2_HDIV_rankscore=0.472;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.232;Polyphen2_HVAR_rankscore=0.573;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.275;MutationAssessor_score_rankscore=0.100;MutationAssessor_pred=N;FATHMM_score=-1.52;FATHMM_converted_rankscore=0.815;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.614;PROVEAN_pred=D;VEST3_score=0.579;VEST3_rankscore=0.609;MetaSVM_score=-0.137;MetaSVM_rankscore=0.793;MetaSVM_pred=T;MetaLR_score=0.471;MetaLR_rankscore=0.796;MetaLR_pred=T;M-CAP_score=0.063;M-CAP_rankscore=0.689;M-CAP_pred=D;REVEL_score=0.527;REVEL_rankscore=0.803;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.510;CADD_raw_rankscore=0.363;CADD_phred=19.53;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.875;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.232;Eigen-PC-raw=0.236;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=3.64;GERP++_RS_rankscore=0.407;phyloP100way_vertebrate=7.979;phyloP100way_vertebrate_rankscore=0.876;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.913;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=14.843;SiPhy_29way_logOdds_rankscore=0.697;Interpro_domain=P-loop_containing_nucleoside_triphosphate_hydrolase|Small_GTP-binding_protein_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1848101|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.776664;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 534197 rs41258054 C T 100 PASS AC=14;AF=0.0766773;AN=214;NS=2504;DP=17121;EAS_AF=0.1528;AMR_AF=0.1369;AFR_AF=0.003;EUR_AF=0.0557;SAS_AF=0.0767;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41258054;CLNALLELEID=48902;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0431;ExAC_nontcga_ALL=0.0700;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.2058;ExAC_nontcga_EAS=0.1432;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0396;ExAC_nontcga_OTH=0.0630;ExAC_nontcga_SAS=0.0937;AF=0.0410;AF_popmax=0.1686;AF_male=0.0424;AF_female=0.0393;AF_raw=0.0410;AF_afr=0.0079;AF_sas=.;AF_amr=0.1686;AF_eas=0.1305;AF_nfe=0.0469;AF_fin=0.0250;AF_asj=0.0345;AF_oth=0.0488;non_topmed_AF_popmax=0.1691;non_neuro_AF_popmax=0.1462;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0639125;Kaviar_AC=9881;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.639245;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 534242 rs12628 A G 100 PASS AC=69;AF=0.297125;AN=214;NS=2504;DP=18347;EAS_AF=0.1726;AMR_AF=0.3646;AFR_AF=0.3729;EUR_AF=0.3121;SAS_AF=0.2597;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;1000g2015aug_all=0.297125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12628;CLNALLELEID=48901;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3441;ExAC_nontcga_ALL=0.3113;ExAC_nontcga_AFR=0.3786;ExAC_nontcga_AMR=0.3703;ExAC_nontcga_EAS=0.1903;ExAC_nontcga_FIN=0.2630;ExAC_nontcga_NFE=0.3275;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.2585;AF=0.3424;AF_popmax=0.3835;AF_male=0.3473;AF_female=0.3363;AF_raw=0.3424;AF_afr=0.3835;AF_sas=.;AF_amr=0.3582;AF_eas=0.2085;AF_nfe=0.3524;AF_fin=0.2685;AF_asj=0.2517;AF_oth=0.3133;non_topmed_AF_popmax=0.3830;non_neuro_AF_popmax=0.3777;non_cancer_AF_popmax=.;controls_AF_popmax=0.3671;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.356061::-0.197663;Heart_Left_Ventricle=Heart_Left_Ventricle::0.338235::0.323458;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.816824;ALLELE_END;VINYL_score=3 GT 1|1 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|1 +11 534332 rs41294870 G A 100 PASS AC=7;AF=0.0357428;AN=214;NS=2504;DP=15101;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.0113;EUR_AF=0.0457;SAS_AF=0.0982;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=HRAS;GeneDetail.refGene=NM_005343:c.-10C>T\x3bNM_176795:c.-10C>T\x3bNM_001318054:c.-749C>T\x3bNM_001130442:c.-10C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0357428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41294870;CLNALLELEID=141259;CLNDN=Costello_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0462;ExAC_nontcga_ALL=0.0474;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0326;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0337;ExAC_nontcga_NFE=0.0578;ExAC_nontcga_OTH=0.0446;ExAC_nontcga_SAS=0.0670;AF=0.0337;AF_popmax=0.0495;AF_male=0.0347;AF_female=0.0326;AF_raw=0.0338;AF_afr=0.0184;AF_sas=.;AF_amr=0.0495;AF_eas=0;AF_nfe=0.0435;AF_fin=0.0297;AF_asj=0.1172;AF_oth=0.0450;non_topmed_AF_popmax=0.0506;non_neuro_AF_popmax=0.0578;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0432983;Kaviar_AC=6694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035647|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.963820;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +11 2466274 rs562468879 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=2185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=KCNQ1;GeneDetail.refGene=NM_000218:c.-55G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562468879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0025;AF_male=7.001e-05;AF_female=0.0002;AF_raw=9.835e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0.0025;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035945|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500675|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.294939;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2466501 rs551422864 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=4502;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon1:c.C173T:p.A58V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551422864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.869;Polyphen2_HDIV_rankscore=0.458;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.456;Polyphen2_HVAR_rankscore=0.445;Polyphen2_HVAR_pred=P;LRT_score=0.389;LRT_converted_rankscore=0.133;LRT_pred=U;MutationTaster_score=0.964;MutationTaster_converted_rankscore=0.260;MutationTaster_pred=N;MutationAssessor_score=1.525;MutationAssessor_score_rankscore=0.387;MutationAssessor_pred=L;FATHMM_score=-5.74;FATHMM_converted_rankscore=0.993;FATHMM_pred=D;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=0.902;MetaSVM_rankscore=0.957;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.979;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.348;REVEL_rankscore=0.673;MutPred_score=0.24;MutPred_rankscore=0.173;CADD_raw=3.646;CADD_raw_rankscore=0.495;CADD_phred=23.2;DANN_score=0.995;DANN_rankscore=0.694;fathmm-MKL_coding_score=0.156;fathmm-MKL_coding_rankscore=0.188;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.511;Eigen-PC-raw=-0.608;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=2.41;GERP++_RS_rankscore=0.285;phyloP100way_vertebrate=2.343;phyloP100way_vertebrate_rankscore=0.434;phyloP20way_mammalian=0.690;phyloP20way_mammalian_rankscore=0.297;phastCons100way_vertebrate=0.081;phastCons100way_vertebrate_rankscore=0.222;phastCons20way_mammalian=0.409;phastCons20way_mammalian_rankscore=0.256;SiPhy_29way_logOdds=9.832;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000035945|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500675|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.919332;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549229 rs143709408 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21983;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon2:c.C458T:p.T153M,KCNQ1:NM_181798:exon2:c.C77T:p.T26M;1000g2015aug_all=0.000399361;GWAS=rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443;ORegAnno_REGULATORY_P=rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443;avsnp150=rs143709408;CLNALLELEID=77971;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.071;SIFT_converted_rankscore=0.450;SIFT_pred=T;Polyphen2_HDIV_score=0.397;Polyphen2_HDIV_rankscore=0.462;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.430;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.331;LRT_pred=N;MutationTaster_score=0.870;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_score_rankscore=0.430;MutationAssessor_pred=L;FATHMM_score=-4.64;FATHMM_converted_rankscore=0.979;FATHMM_pred=D;PROVEAN_score=-2.38;PROVEAN_converted_rankscore=0.524;PROVEAN_pred=N;VEST3_score=0.723;VEST3_rankscore=0.755;MetaSVM_score=0.847;MetaSVM_rankscore=0.950;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.241;M-CAP_rankscore=0.887;M-CAP_pred=D;REVEL_score=0.739;REVEL_rankscore=0.911;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.595;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.993;DANN_rankscore=0.585;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.091;Eigen-PC-raw=0.122;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.439;integrated_fitCons_score=0.515;integrated_fitCons_score_rankscore=0.199;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=2.194;phyloP100way_vertebrate_rankscore=0.421;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.962;phastCons100way_vertebrate_rankscore=0.335;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.135;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=0.0003;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933882;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549230 rs148121889 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon2:c.G459A:p.T153T,KCNQ1:NM_181798:exon2:c.G78A:p.T26T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148121889;CLNALLELEID=141715;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0018;AF_male=0.0016;AF_female=0.0010;AF_raw=0.0013;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.001216;Kaviar_AC=188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933882;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549257 rs28730664 C T 100 PASS AC=1;AF=0.0171725;AN=214;NS=2504;DP=21752;EAS_AF=0.005;AMR_AF=0.0014;AFR_AF=0.0348;EUR_AF=0.001;SAS_AF=0.0337;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730664;CLNALLELEID=175840;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0342;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0.0057;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0197;AF=0.0105;AF_popmax=0.0355;AF_male=0.0117;AF_female=0.0089;AF_raw=0.0105;AF_afr=0.0355;AF_sas=.;AF_amr=0;AF_eas=0.0071;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0358;non_neuro_AF_popmax=0.0316;non_cancer_AF_popmax=.;controls_AF_popmax=0.0323;Kaviar_AF=0.0060543;Kaviar_AC=936;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.111971;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2549329 rs145292450 TGG T 100 PASS AC=118;AF=0.593251;AN=214;NS=2504;DP=19211;EAS_AF=0.7103;AMR_AF=0.6614;AFR_AF=0.4728;EUR_AF=0.6163;SAS_AF=0.5634;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.593251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145292450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6205;AF_popmax=0.7081;AF_male=0.6200;AF_female=0.6210;AF_raw=0.6206;AF_afr=0.5249;AF_sas=.;AF_amr=0.6288;AF_eas=0.7081;AF_nfe=0.6613;AF_fin=0.6447;AF_asj=0.5207;AF_oth=0.6236;non_topmed_AF_popmax=0.7081;non_neuro_AF_popmax=0.7081;non_cancer_AF_popmax=.;controls_AF_popmax=0.7;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.602069,95.635312;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 1|0 0|1 1|1 1|0 1|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|1 0|1 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 0|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 +11 2591802 rs141367284 T G 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=15321;EAS_AF=0;AMR_AF=0;AFR_AF=0.0151;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141367284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0074;AF_male=0.0025;AF_female=0.0024;AF_raw=0.0024;AF_afr=0.0074;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.0016136;Kaviar_AC=42;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.064096;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2591893 rs139042529 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon3:c.C513T:p.Y171Y,KCNQ1:NM_181798:exon3:c.C132T:p.Y44Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139042529;CLNALLELEID=175700;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921392;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2592033 rs200068710 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17452;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200068710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0012;AF_popmax=0.0019;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.707256;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +11 2593185 rs7128407 C T 100 PASS AC=1;AF=0.00658946;AN=214;NS=2504;DP=17447;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0249;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7128407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0237;AF_popmax=0.0282;AF_male=0.0221;AF_female=0.0256;AF_raw=0.0239;AF_afr=0.0025;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0697;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0424;Kaviar_AF=0.0140234;Kaviar_AC=365;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.914149;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2593416 rs12786951 A G 100 PASS AC=58;AF=0.328874;AN=214;NS=2504;DP=14967;EAS_AF=0.5724;AMR_AF=0.4179;AFR_AF=0.1172;EUR_AF=0.2535;SAS_AF=0.3783;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.328874;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12786951;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2264;AF_popmax=0.5685;AF_male=0.2292;AF_female=0.2228;AF_raw=0.2264;AF_afr=0.1377;AF_sas=.;AF_amr=0.3986;AF_eas=0.5685;AF_nfe=0.2313;AF_fin=0.2223;AF_asj=0.2276;AF_oth=0.2546;non_topmed_AF_popmax=0.5695;non_neuro_AF_popmax=0.5685;non_cancer_AF_popmax=.;controls_AF_popmax=0.5694;Kaviar_AF=0.290303;Kaviar_AC=7556;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.111065;ALLELE_END;VINYL_score=1 GT 0|1 0|1 0|0 1|0 0|1 0|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594037 rs199621723 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199621723;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=5.826e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.247e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.526e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.009946;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594106 rs189991547 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18693;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon6:c.C811T:p.L271L,KCNQ1:NM_181798:exon6:c.C430T:p.L144L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189991547;CLNALLELEID=141704;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920096;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2594268 rs150132041 T G 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=17719;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150132041;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0039;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0005;AF=0.0031;AF_popmax=0.0052;AF_male=0.0034;AF_female=0.0028;AF_raw=0.0031;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0052;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0042108;Kaviar_AC=651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2606519 rs1805118 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19965;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon8:c.G1110A:p.A370A,KCNQ1:NM_181798:exon8:c.G729A:p.A243A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805118;CLNALLELEID=197473;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0042;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0006;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942483;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2606621 rs56413900 C T 100 PASS AC=8;AF=0.00678914;AN=214;NS=2504;DP=20838;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.0061;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56413900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0072;AF_popmax=0.0130;AF_male=0.0077;AF_female=0.0065;AF_raw=0.0072;AF_afr=0.0022;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0020;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.001837;Kaviar_AC=284;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.963998;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 +11 2609919 rs201207429 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14994;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201207429;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.535e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.857e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532182;ALLELE_END;VINYL_score=5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683152 rs739502 T G 100 PASS AC=38;AF=0.305112;AN=214;NS=2504;DP=17522;EAS_AF=0.2966;AMR_AF=0.2464;AFR_AF=0.4697;EUR_AF=0.2406;SAS_AF=0.1994;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305112;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs739502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0923;ExAC_nontcga_ALL=0.1246;ExAC_nontcga_AFR=0.3984;ExAC_nontcga_AMR=0.0730;ExAC_nontcga_EAS=0.0536;ExAC_nontcga_FIN=0.1119;ExAC_nontcga_NFE=0.0938;ExAC_nontcga_OTH=0.1291;ExAC_nontcga_SAS=0.1507;AF=0.1773;AF_popmax=0.3906;AF_male=0.1795;AF_female=0.1746;AF_raw=0.1775;AF_afr=0.3906;AF_sas=.;AF_amr=0.0884;AF_eas=0.0546;AF_nfe=0.0956;AF_fin=0.1014;AF_asj=0.0897;AF_oth=0.1433;non_topmed_AF_popmax=0.3911;non_neuro_AF_popmax=0.3886;non_cancer_AF_popmax=.;controls_AF_popmax=0.3861;Kaviar_AF=0.119449;Kaviar_AC=18467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.193237;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 +11 2683177 rs28730758 C T 100 PASS AC=4;AF=0.0129792;AN=214;NS=2504;DP=17370;EAS_AF=0.0347;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730758;CLNALLELEID=51655;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0138;ExAC_nontcga_ALL=0.0101;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.0439;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0027;AF=0.0105;AF_popmax=0.0429;AF_male=0.0112;AF_female=0.0097;AF_raw=0.0105;AF_afr=0.0029;AF_sas=.;AF_amr=0.0059;AF_eas=0.0429;AF_nfe=0.0136;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0427;non_neuro_AF_popmax=0.0429;non_cancer_AF_popmax=.;controls_AF_popmax=0.0404;Kaviar_AF=0.0113259;Kaviar_AC=1751;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940676;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683329 rs12577654 C T 100 PASS AC=2;AF=0.0191693;AN=214;NS=2504;DP=15130;EAS_AF=0.0268;AMR_AF=0;AFR_AF=0.0174;EUR_AF=0.002;SAS_AF=0.045;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12577654;CLNALLELEID=45098;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0104;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0379;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0446;AF=0.0051;AF_popmax=0.0404;AF_male=0.0056;AF_female=0.0045;AF_raw=0.0051;AF_afr=0.0096;AF_sas=.;AF_amr=0;AF_eas=0.0404;AF_nfe=6.483e-05;AF_fin=0.0023;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0408;non_neuro_AF_popmax=0.0404;non_cancer_AF_popmax=.;controls_AF_popmax=0.0361;Kaviar_AF=0.008952;Kaviar_AC=1384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.228112;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2683357 rs760419 A G 100 PASS AC=88;AF=0.519768;AN=214;NS=2504;DP=13767;EAS_AF=0.3313;AMR_AF=0.366;AFR_AF=0.8578;EUR_AF=0.4523;SAS_AF=0.4356;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs760419;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4637;ExAC_nontcga_ALL=0.4467;ExAC_nontcga_AFR=0.8051;ExAC_nontcga_AMR=0.2944;ExAC_nontcga_EAS=0.3186;ExAC_nontcga_FIN=0.4853;ExAC_nontcga_NFE=0.4504;ExAC_nontcga_OTH=0.4116;ExAC_nontcga_SAS=0.3874;AF=0.5533;AF_popmax=0.8096;AF_male=0.5536;AF_female=0.5530;AF_raw=0.5530;AF_afr=0.8096;AF_sas=.;AF_amr=0.3137;AF_eas=0.3085;AF_nfe=0.4665;AF_fin=0.4931;AF_asj=0.3785;AF_oth=0.5074;non_topmed_AF_popmax=0.8096;non_neuro_AF_popmax=0.8166;non_cancer_AF_popmax=.;controls_AF_popmax=0.8105;Kaviar_AF=0.441094;Kaviar_AC=68194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|1 1|0 1|1 1|0 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 0|1 0|1 1|1 1|1 0|0 0|1 0|0 1|1 1|1 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|0 1|1 1|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 1|0 0|0 0|1 0|1 1|1 0|0 0|0 +11 2683361 rs199948521 C G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13817;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=KCNQ1OT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199948521;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0017;AF_raw=0.0012;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0013195;Kaviar_AC=204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2790019 rs2075870 G A 100 PASS AC=8;AF=0.0908546;AN=214;NS=2504;DP=19866;EAS_AF=0.2073;AMR_AF=0.0331;AFR_AF=0.0855;EUR_AF=0.0229;SAS_AF=0.089;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0908546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2075870;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0305;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0543;AF_popmax=0.1946;AF_male=0.0572;AF_female=0.0506;AF_raw=0.0546;AF_afr=0.1027;AF_sas=.;AF_amr=0.0283;AF_eas=0.1946;AF_nfe=0.0256;AF_fin=0.0066;AF_asj=0.1034;AF_oth=0.0331;non_topmed_AF_popmax=0.1929;non_neuro_AF_popmax=0.1946;non_cancer_AF_popmax=.;controls_AF_popmax=0.2093;Kaviar_AF=0.0080788;Kaviar_AC=1249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2790163 rs11024034 T C 100 PASS AC=41;AF=0.0461262;AN=214;NS=2504;DP=20354;EAS_AF=0;AMR_AF=0.0461;AFR_AF=0.0113;EUR_AF=0.1282;SAS_AF=0.0562;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0461262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11024034;CLNALLELEID=45099;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1172;ExAC_nontcga_ALL=0.0846;ExAC_nontcga_AFR=0.0187;ExAC_nontcga_AMR=0.0415;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1065;ExAC_nontcga_NFE=0.1177;ExAC_nontcga_OTH=0.1061;ExAC_nontcga_SAS=0.0714;AF=0.0759;AF_popmax=0.1083;AF_male=0.0778;AF_female=0.0736;AF_raw=0.0761;AF_afr=0.0175;AF_sas=.;AF_amr=0.0566;AF_eas=0;AF_nfe=0.1083;AF_fin=0.1048;AF_asj=0.1345;AF_oth=0.1002;non_topmed_AF_popmax=0.1081;non_neuro_AF_popmax=0.1076;non_cancer_AF_popmax=.;controls_AF_popmax=0.1047;Kaviar_AF=0.0867712;Kaviar_AC=13415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 +11 2797197 rs574321120 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19277;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1598A:p.R533Q,KCNQ1:NM_181798:exon13:c.G1217A:p.R406Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574321120;CLNALLELEID=437883;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.042;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.815;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.22;Polyphen2_HVAR_rankscore=0.498;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.452;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.493;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-6.37;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-2.9;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=D;VEST3_score=0.545;VEST3_rankscore=0.706;MetaSVM_score=1.050;MetaSVM_rankscore=0.981;MetaSVM_pred=D;MetaLR_score=0.977;MetaLR_rankscore=0.993;MetaLR_pred=D;M-CAP_score=0.898;M-CAP_rankscore=0.992;M-CAP_pred=D;REVEL_score=0.758;REVEL_rankscore=0.919;MutPred_score=0.516;MutPred_rankscore=0.617;CADD_raw=5.912;CADD_raw_rankscore=0.811;CADD_phred=27.5;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.387;Eigen-PC-raw=0.363;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.78;GERP++_RS_rankscore=0.425;phyloP100way_vertebrate=4.394;phyloP100way_vertebrate_rankscore=0.592;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.952;phastCons20way_mammalian_rankscore=0.428;SiPhy_29way_logOdds=13.499;SiPhy_29way_logOdds_rankscore=0.607;Interpro_domain=Potassium_channel,_voltage_dependent,_KCNQ,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.737e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937482;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2797237 rs1057128 G A 100 PASS AC=35;AF=0.180911;AN=214;NS=2504;DP=18625;EAS_AF=0.2927;AMR_AF=0.33;AFR_AF=0.0106;EUR_AF=0.1978;SAS_AF=0.1728;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1638A:p.S546S,KCNQ1:NM_181798:exon13:c.G1257A:p.S419S;1000g2015aug_all=0.180911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1057128;CLNALLELEID=51658;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1932;ExAC_nontcga_ALL=0.2657;ExAC_nontcga_AFR=0.0604;ExAC_nontcga_AMR=0.4819;ExAC_nontcga_EAS=0.4032;ExAC_nontcga_FIN=0.3558;ExAC_nontcga_NFE=0.3016;ExAC_nontcga_OTH=0.2552;ExAC_nontcga_SAS=0.2042;AF=0.1658;AF_popmax=0.3384;AF_male=0.1657;AF_female=0.1658;AF_raw=0.1657;AF_afr=0.0459;AF_sas=.;AF_amr=0.3384;AF_eas=0.2927;AF_nfe=0.2038;AF_fin=0.1931;AF_asj=0.1414;AF_oth=0.1878;non_topmed_AF_popmax=0.3407;non_neuro_AF_popmax=0.3393;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.936874;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2797320 rs163150 A G 100 PASS AC=149;AF=0.668331;AN=214;NS=2504;DP=15900;EAS_AF=0.7073;AMR_AF=0.5663;AFR_AF=0.612;EUR_AF=0.6789;SAS_AF=0.7658;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.668331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs163150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6891;ExAC_nontcga_ALL=0.6951;ExAC_nontcga_AFR=0.6089;ExAC_nontcga_AMR=0.5851;ExAC_nontcga_EAS=0.7222;ExAC_nontcga_FIN=0.8023;ExAC_nontcga_NFE=0.6895;ExAC_nontcga_OTH=0.7213;ExAC_nontcga_SAS=0.7247;AF=0.6687;AF_popmax=0.7085;AF_male=0.6670;AF_female=0.6709;AF_raw=0.6684;AF_afr=0.6129;AF_sas=.;AF_amr=0.5767;AF_eas=0.7085;AF_nfe=0.6854;AF_fin=0.7335;AF_asj=0.6828;AF_oth=0.6823;non_topmed_AF_popmax=0.7111;non_neuro_AF_popmax=0.7085;non_cancer_AF_popmax=.;controls_AF_popmax=0.7097;Kaviar_AF=0.428591;Kaviar_AC=66261;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1500684|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.805043;ALLELE_END;VINYL_score=2 GT 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 0|1 0|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 2798305 rs81204 T C 100 PASS AC=54;AF=0.223842;AN=214;NS=2504;DP=16610;EAS_AF=0.2688;AMR_AF=0.2334;AFR_AF=0.1445;EUR_AF=0.2455;SAS_AF=0.2556;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.223842;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs81204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2302;ExAC_nontcga_ALL=0.2280;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1846;ExAC_nontcga_EAS=0.2671;ExAC_nontcga_FIN=0.2577;ExAC_nontcga_NFE=0.2408;ExAC_nontcga_OTH=0.2401;ExAC_nontcga_SAS=0.2267;AF=0.2182;AF_popmax=0.2713;AF_male=0.2126;AF_female=0.2252;AF_raw=0.2182;AF_afr=0.1427;AF_sas=.;AF_amr=0.2175;AF_eas=0.2713;AF_nfe=0.2473;AF_fin=0.2497;AF_asj=0.2;AF_oth=0.2376;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2713;non_cancer_AF_popmax=.;controls_AF_popmax=0.2717;Kaviar_AF=0.221019;Kaviar_AC=34170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000952519|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 +11 2798341 rs192106291 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17332;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192106291;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000952519|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799211 rs200476771 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon15:c.A1738G:p.S580G,KCNQ1:NM_181798:exon15:c.A1357G:p.S453G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200476771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.203;SIFT_converted_rankscore=0.201;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.302;LRT_pred=N;MutationTaster_score=0.573;MutationTaster_converted_rankscore=0.323;MutationTaster_pred=D;MutationAssessor_score=1.265;MutationAssessor_score_rankscore=0.321;MutationAssessor_pred=L;FATHMM_score=-6.44;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-0.01;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.607;VEST3_rankscore=0.631;MetaSVM_score=1.106;MetaSVM_rankscore=0.998;MetaSVM_pred=D;MetaLR_score=0.928;MetaLR_rankscore=0.976;MetaLR_pred=D;M-CAP_score=0.830;M-CAP_rankscore=0.987;M-CAP_pred=D;REVEL_score=0.649;REVEL_rankscore=0.869;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.782;CADD_raw_rankscore=0.169;CADD_phred=9.355;DANN_score=0.854;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.534;fathmm-MKL_coding_rankscore=0.291;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.471;Eigen-PC-raw=-0.380;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=3.11;GERP++_RS_rankscore=0.347;phyloP100way_vertebrate=2.904;phyloP100way_vertebrate_rankscore=0.482;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.957;phastCons20way_mammalian_rankscore=0.436;SiPhy_29way_logOdds=5.038;SiPhy_29way_logOdds_rankscore=0.137;Interpro_domain=Potassium_channel,_voltage_dependent,_KCNQ,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.902951;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799299 rs41282928 G T 100 PASS AC=9;AF=0.0133786;AN=214;NS=2504;DP=15642;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0015;EUR_AF=0.0398;SAS_AF=0.0072;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41282928;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0511;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0728;ExAC_nontcga_NFE=0.0475;ExAC_nontcga_OTH=0.0440;ExAC_nontcga_SAS=0.0100;AF=0.0429;AF_popmax=0.0613;AF_male=0.0416;AF_female=0.0446;AF_raw=0.0431;AF_afr=0.0074;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0613;AF_fin=0.0749;AF_asj=0.0069;AF_oth=0.0450;non_topmed_AF_popmax=0.0642;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0745;Kaviar_AF=0.0346373;Kaviar_AC=5355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.401843;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2799369 rs55771042 C G 100 PASS AC=7;AF=0.0155751;AN=214;NS=2504;DP=12967;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0258;SAS_AF=0.0409;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55771042;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0187;AF_popmax=0.0285;AF_male=0.0192;AF_female=0.0181;AF_raw=0.0186;AF_afr=0.0062;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0285;AF_fin=0.0147;AF_asj=0.0448;AF_oth=0.0147;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0288;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0214;Kaviar_AC=557;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.643325;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 2799380 rs150950451 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=13575;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150950451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0015;AF_male=0.0010;AF_female=0.0005;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1261171|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.577914;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 2869002 rs147091980 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16381;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.G1800A:p.T600T,KCNQ1:NM_181798:exon16:c.G1419A:p.T473T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147091980;CLNALLELEID=174724;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1493654|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.887308;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +11 2869188 rs11601907 C T 100 PASS AC=45;AF=0.0832668;AN=214;NS=2504;DP=13923;EAS_AF=0;AMR_AF=0.1081;AFR_AF=0.0242;EUR_AF=0.2386;SAS_AF=0.0716;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11601907;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2328;ExAC_nontcga_ALL=0.2572;ExAC_nontcga_AFR=0.0759;ExAC_nontcga_AMR=0.2060;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.4646;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.2340;ExAC_nontcga_SAS=0.1258;AF=0.1891;AF_popmax=0.2683;AF_male=0.1868;AF_female=0.1920;AF_raw=0.1896;AF_afr=0.05;AF_sas=.;AF_amr=0.1344;AF_eas=0.0006;AF_nfe=0.2683;AF_fin=0.2738;AF_asj=0.2034;AF_oth=0.2245;non_topmed_AF_popmax=0.2715;non_neuro_AF_popmax=0.2687;non_cancer_AF_popmax=.;controls_AF_popmax=0.2858;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1493654|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.891667;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 1|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +11 6625566 rs114115159 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon1:c.A65G:p.N22S,ILK:NM_001014794:exon2:c.A65G:p.N22S,ILK:NM_001278441:exon2:c.A65G:p.N22S,ILK:NM_004517:exon2:c.A65G:p.N22S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114115159;CLNALLELEID=198363;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.274;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.64;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.243;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.081;MetaSVM_score=-0.873;MetaSVM_rankscore=0.504;MetaSVM_pred=T;MetaLR_score=0.155;MetaLR_rankscore=0.486;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.470;M-CAP_pred=T;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.601;CADD_raw_rankscore=0.374;CADD_phred=20.2;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.202;Eigen-PC-raw=0.339;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=8.444;phyloP100way_vertebrate_rankscore=0.901;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.714;SiPhy_29way_logOdds_rankscore=0.563;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0013842;Kaviar_AC=214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000036315|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247960|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.674504;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6629332 rs201499797 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon2:c.T146C:p.V49A,ILK:NM_001014794:exon3:c.T146C:p.V49A,ILK:NM_001278441:exon3:c.T146C:p.V49A,ILK:NM_004517:exon3:c.T146C:p.V49A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201499797;CLNALLELEID=425940;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.64;Polyphen2_HDIV_rankscore=0.385;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.558;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.655;PROVEAN_pred=N;VEST3_score=0.693;VEST3_rankscore=0.768;MetaSVM_score=-0.390;MetaSVM_rankscore=0.724;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_rankscore=0.715;MetaLR_pred=T;M-CAP_score=0.056;M-CAP_rankscore=0.666;M-CAP_pred=D;REVEL_score=0.529;REVEL_rankscore=0.804;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.622;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.998;DANN_rankscore=0.887;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.865;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.490;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=7.523;phyloP100way_vertebrate_rankscore=0.806;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.351;SiPhy_29way_logOdds_rankscore=0.740;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.343153;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6629665 rs1043388 C T 100 PASS AC=58;AF=0.314696;AN=214;NS=2504;DP=24191;EAS_AF=0.3512;AMR_AF=0.2608;AFR_AF=0.4153;EUR_AF=0.2535;SAS_AF=0.2423;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H;1000g2015aug_all=0.314696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1043388;CLNALLELEID=141291;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.25;ExAC_nontcga_ALL=0.2662;ExAC_nontcga_AFR=0.3857;ExAC_nontcga_AMR=0.2048;ExAC_nontcga_EAS=0.3421;ExAC_nontcga_FIN=0.2525;ExAC_nontcga_NFE=0.2626;ExAC_nontcga_OTH=0.2363;ExAC_nontcga_SAS=0.2245;AF=0.2950;AF_popmax=0.3783;AF_male=0.2929;AF_female=0.2976;AF_raw=0.2951;AF_afr=0.3783;AF_sas=.;AF_amr=0.2052;AF_eas=0.3419;AF_nfe=0.2617;AF_fin=0.2425;AF_asj=0.3207;AF_oth=0.2638;non_topmed_AF_popmax=0.3791;non_neuro_AF_popmax=0.3783;non_cancer_AF_popmax=.;controls_AF_popmax=0.3759;Kaviar_AF=0.265527;Kaviar_AC=41051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 0|0 1|1 1|1 +11 6630028 rs11314683 TC T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=20388;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=CCCC|CCCCC|CCCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11314683;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11314683;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 6630043 rs543104710 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543104710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.079;CADD_raw_rankscore=0.086;CADD_phred=1.890;DANN_score=0.665;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.283;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.388;Eigen-PC-raw=0.308;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.406;integrated_fitCons_score_rankscore=0.055;integrated_confidence_value=1;GERP++_RS=1.31;GERP++_RS_rankscore=0.207;phyloP100way_vertebrate=-0.029;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.216;phyloP20way_mammalian_rankscore=0.099;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.558;SiPhy_29way_logOdds_rankscore=0.115;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543104710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.079;CADD_raw_rankscore=0.086;CADD_phred=1.890;DANN_score=0.665;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.283;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.388;Eigen-PC-raw=0.308;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.406;integrated_fitCons_score_rankscore=0.055;integrated_confidence_value=1;GERP++_RS=1.31;GERP++_RS_rankscore=0.207;phyloP100way_vertebrate=-0.029;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.216;phyloP20way_mammalian_rankscore=0.099;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.558;SiPhy_29way_logOdds_rankscore=0.115;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6630410 rs11826498 T C 100 PASS AC=51;AF=0.120807;AN=214;NS=2504;DP=21261;EAS_AF=0.0804;AMR_AF=0.183;AFR_AF=0.0204;EUR_AF=0.2565;SAS_AF=0.1145;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11826498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2548;ExAC_nontcga_ALL=0.2051;ExAC_nontcga_AFR=0.0543;ExAC_nontcga_AMR=0.2076;ExAC_nontcga_EAS=0.1065;ExAC_nontcga_FIN=0.2881;ExAC_nontcga_NFE=0.2550;ExAC_nontcga_OTH=0.2190;ExAC_nontcga_SAS=0.1339;AF=0.1955;AF_popmax=0.2600;AF_male=0.1904;AF_female=0.2018;AF_raw=0.1957;AF_afr=0.0573;AF_sas=.;AF_amr=0.1887;AF_eas=0.0974;AF_nfe=0.2600;AF_fin=0.2909;AF_asj=0.1931;AF_oth=0.2302;non_topmed_AF_popmax=0.2647;non_neuro_AF_popmax=0.2577;non_cancer_AF_popmax=.;controls_AF_popmax=0.2666;Kaviar_AF=0.205761;Kaviar_AC=31811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 6630524 rs149710421 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20951;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149710421;CLNALLELEID=241205;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0010;AF=0.0003;AF_popmax=0.0004;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.000705;Kaviar_AC=109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6630833 rs1043390 G A 100 PASS AC=59;AF=0.347444;AN=214;NS=2504;DP=22842;EAS_AF=0.3492;AMR_AF=0.2651;AFR_AF=0.5303;EUR_AF=0.2555;SAS_AF=0.2515;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P;1000g2015aug_all=0.347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1043390;CLNALLELEID=141293;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2514;ExAC_nontcga_ALL=0.2766;ExAC_nontcga_AFR=0.4806;ExAC_nontcga_AMR=0.2096;ExAC_nontcga_EAS=0.3440;ExAC_nontcga_FIN=0.2528;ExAC_nontcga_NFE=0.2634;ExAC_nontcga_OTH=0.2421;ExAC_nontcga_SAS=0.2326;AF=0.3218;AF_popmax=0.4732;AF_male=0.3213;AF_female=0.3225;AF_raw=0.3220;AF_afr=0.4732;AF_sas=.;AF_amr=0.2057;AF_eas=0.3426;AF_nfe=0.2621;AF_fin=0.2432;AF_asj=0.3207;AF_oth=0.2699;non_topmed_AF_popmax=0.4741;non_neuro_AF_popmax=0.4742;non_cancer_AF_popmax=.;controls_AF_popmax=0.4735;Kaviar_AF=0.275398;Kaviar_AC=42577;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 0|0 1|1 1|1 +11 6630962 rs147558204 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C681T:p.V227V,ILK:NM_001014795:exon9:c.C864T:p.V288V,ILK:NM_001278442:exon9:c.C462T:p.V154V,ILK:NM_001014794:exon10:c.C864T:p.V288V,ILK:NM_004517:exon10:c.C864T:p.V288V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147558204;CLNALLELEID=503360;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000419|hsa-miR-27b-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 6631016 rs2292195 C T 100 PASS AC=51;AF=0.160144;AN=214;NS=2504;DP=21063;EAS_AF=0.0833;AMR_AF=0.2219;AFR_AF=0.1256;EUR_AF=0.2575;SAS_AF=0.1421;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;1000g2015aug_all=0.160144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2292195;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2647;ExAC_nontcga_ALL=0.2251;ExAC_nontcga_AFR=0.1509;ExAC_nontcga_AMR=0.2449;ExAC_nontcga_EAS=0.1106;ExAC_nontcga_FIN=0.2913;ExAC_nontcga_NFE=0.2599;ExAC_nontcga_OTH=0.2277;ExAC_nontcga_SAS=0.1655;AF=0.2270;AF_popmax=0.2683;AF_male=0.2241;AF_female=0.2307;AF_raw=0.2272;AF_afr=0.1481;AF_sas=.;AF_amr=0.2276;AF_eas=0.1019;AF_nfe=0.2683;AF_fin=0.2942;AF_asj=0.2034;AF_oth=0.2422;non_topmed_AF_popmax=0.2727;non_neuro_AF_popmax=0.2667;non_cancer_AF_popmax=.;controls_AF_popmax=0.2757;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.230038::0.178556;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 6631300 rs41310330 G A 100 PASS AC=8;AF=0.00579073;AN=214;NS=2504;DP=20909;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0023;EUR_AF=0.0179;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41310330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0030;AF=0.0084;AF_popmax=0.0128;AF_male=0.0084;AF_female=0.0085;AF_raw=0.0084;AF_afr=0.0020;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0086;AF_asj=0.0241;AF_oth=0.0046;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0133;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0113647;Kaviar_AC=1757;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +11 6631561 rs145787931 A C 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=21196;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145787931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0047;AF_male=0.0021;AF_female=0.0008;AF_raw=0.0015;AF_afr=0.0007;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.002031;Kaviar_AC=314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1258265|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19204403 rs45549043 A G 100 PASS AC=43;AF=0.155152;AN=214;NS=2504;DP=18183;EAS_AF=0.0427;AMR_AF=0.1196;AFR_AF=0.2829;EUR_AF=0.2008;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45549043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2095;AF_popmax=0.2761;AF_male=0.2072;AF_female=0.2124;AF_raw=0.2097;AF_afr=0.2761;AF_sas=.;AF_amr=0.1014;AF_eas=0.0625;AF_nfe=0.1940;AF_fin=0.2121;AF_asj=0.1759;AF_oth=0.1924;non_topmed_AF_popmax=0.2769;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2808;Kaviar_AF=0.034204;Kaviar_AC=5288;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +11 19206426 rs2288251 A T 100 PASS AC=57;AF=0.300919;AN=214;NS=2504;DP=21351;EAS_AF=0.1022;AMR_AF=0.2176;AFR_AF=0.6082;EUR_AF=0.2416;SAS_AF=0.2106;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.300919;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3054;AF_popmax=0.5279;AF_male=0.3071;AF_female=0.3033;AF_raw=0.3055;AF_afr=0.5279;AF_sas=.;AF_amr=0.1809;AF_eas=0.1284;AF_nfe=0.2414;AF_fin=0.1623;AF_asj=0.2310;AF_oth=0.2606;non_topmed_AF_popmax=0.5275;non_neuro_AF_popmax=0.5118;non_cancer_AF_popmax=.;controls_AF_popmax=0.5137;Kaviar_AF=0.0516423;Kaviar_AC=7984;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.688190;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 +11 19207841 rs13451 C T 100 PASS AC=28;AF=0.0427316;AN=214;NS=2504;DP=22172;EAS_AF=0.0069;AMR_AF=0.0519;AFR_AF=0.0038;EUR_AF=0.1103;SAS_AF=0.0562;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon5:c.G336A:p.A112A;1000g2015aug_all=0.0427316;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13451;CLNALLELEID=53863;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1073;ExAC_nontcga_ALL=0.0808;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0382;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.1158;ExAC_nontcga_NFE=0.1143;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0588;AF=0.0702;AF_popmax=0.0982;AF_male=0.0693;AF_female=0.0713;AF_raw=0.0703;AF_afr=0.0178;AF_sas=.;AF_amr=0.0366;AF_eas=0.0013;AF_nfe=0.0982;AF_fin=0.1018;AF_asj=0.1138;AF_oth=0.1041;non_topmed_AF_popmax=0.0956;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.0927;Kaviar_AF=0.0830002;Kaviar_AC=12832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000070|hsa-miR-17-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546454;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19209640 rs45602431 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19853;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45602431;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0035;AF=0.0015;AF_popmax=0.0047;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0009;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000954250|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613307;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19209912 rs45599634 T A 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=18297;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45599634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0069;AF_male=0.0042;AF_female=0.0043;AF_raw=0.0043;AF_afr=0.0008;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0069;AF_fin=0.0020;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000954250|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 19213986 rs45550635 A G 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=19267;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon3:c.T10C:p.W4R;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45550635;CLNALLELEID=23815;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.888;Polyphen2_HDIV_rankscore=0.468;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.657;Polyphen2_HVAR_rankscore=0.509;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=A;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-3.25;PROVEAN_converted_rankscore=0.652;PROVEAN_pred=D;VEST3_score=0.859;VEST3_rankscore=0.847;MetaSVM_score=-0.440;MetaSVM_rankscore=0.708;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.548;M-CAP_pred=D;REVEL_score=0.474;REVEL_rankscore=0.770;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.529;CADD_raw_rankscore=0.751;CADD_phred=26.3;DANN_score=0.994;DANN_rankscore=0.629;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.861;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.617;Eigen-PC-raw=0.663;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=7.402;phyloP100way_vertebrate_rankscore=0.790;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=16.203;SiPhy_29way_logOdds_rankscore=0.818;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0007;AF=0.0028;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0029;AF_raw=0.0028;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0006;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.685021;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47353498 rs2290146 G A 100 PASS AC=24;AF=0.356629;AN=214;NS=2504;DP=18310;EAS_AF=0.623;AMR_AF=0.2637;AFR_AF=0.469;EUR_AF=0.162;SAS_AF=0.1963;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.356629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2290146;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1747;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2867;AF_popmax=0.6064;AF_male=0.2926;AF_female=0.2793;AF_raw=0.2870;AF_afr=0.4331;AF_sas=.;AF_amr=0.3558;AF_eas=0.6064;AF_nfe=0.1750;AF_fin=0.2789;AF_asj=0.1586;AF_oth=0.2468;non_topmed_AF_popmax=0.6090;non_neuro_AF_popmax=0.6064;non_cancer_AF_popmax=.;controls_AF_popmax=0.6004;Kaviar_AF=0.0454199;Kaviar_AC=7022;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.219697::-0.2135;Heart_Left_Ventricle=Heart_Left_Ventricle::0.222426::-0.208487;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.840870;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47354068 rs3729802 G A 100 PASS AC=24;AF=0.341454;AN=214;NS=2504;DP=16686;EAS_AF=0.622;AMR_AF=0.2579;AFR_AF=0.4153;EUR_AF=0.162;SAS_AF=0.1963;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729802;CLNALLELEID=254187;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1646;ExAC_nontcga_ALL=0.2582;ExAC_nontcga_AFR=0.3850;ExAC_nontcga_AMR=0.4036;ExAC_nontcga_EAS=0.6104;ExAC_nontcga_FIN=0.2855;ExAC_nontcga_NFE=0.1609;ExAC_nontcga_OTH=0.2127;ExAC_nontcga_SAS=0.2269;AF=0.2705;AF_popmax=0.6050;AF_male=0.2757;AF_female=0.2640;AF_raw=0.2709;AF_afr=0.3754;AF_sas=.;AF_amr=0.3519;AF_eas=0.6050;AF_nfe=0.1753;AF_fin=0.2786;AF_asj=0.1562;AF_oth=0.2445;non_topmed_AF_popmax=0.6077;non_neuro_AF_popmax=0.6050;non_cancer_AF_popmax=.;controls_AF_popmax=0.5985;Kaviar_AF=0.240197;Kaviar_AC=37135;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::-0.202006;Heart_Left_Ventricle=Heart_Left_Ventricle::0.21875::-0.20503;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.452619;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47354787 rs1052373 C T 100 PASS AC=49;AF=0.476238;AN=214;NS=2504;DP=19715;EAS_AF=0.7202;AMR_AF=0.3329;AFR_AF=0.5083;EUR_AF=0.3072;SAS_AF=0.4571;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1052373;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3039;ExAC_nontcga_ALL=0.4822;ExAC_nontcga_AFR=0.5487;ExAC_nontcga_AMR=0.5563;ExAC_nontcga_EAS=0.7283;ExAC_nontcga_FIN=0.5246;ExAC_nontcga_NFE=0.3972;ExAC_nontcga_OTH=0.3970;ExAC_nontcga_SAS=0.5001;AF=0.3983;AF_popmax=0.6987;AF_male=0.4034;AF_female=0.3920;AF_raw=0.3986;AF_afr=0.4867;AF_sas=.;AF_amr=0.4151;AF_eas=0.6987;AF_nfe=0.3168;AF_fin=0.4221;AF_asj=0.2552;AF_oth=0.3692;non_topmed_AF_popmax=0.7011;non_neuro_AF_popmax=0.6987;non_cancer_AF_popmax=.;controls_AF_popmax=0.6901;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.344697::-0.2176;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.156785;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.864445;ALLELE_END;VINYL_score=4 GT 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 +11 47354851 rs150786409 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.C3224G:p.T1075S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150786409;CLNALLELEID=444810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.586;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.167;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_rankscore=0.256;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=0.49;FATHMM_converted_rankscore=0.558;FATHMM_pred=T;PROVEAN_score=-0.97;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.049;MetaSVM_score=-0.989;MetaSVM_rankscore=0.328;MetaSVM_pred=T;MetaLR_score=0.105;MetaLR_rankscore=0.384;MetaLR_pred=T;M-CAP_score=0.109;M-CAP_rankscore=0.787;M-CAP_pred=D;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.231;CADD_raw_rankscore=0.213;CADD_phred=11.91;DANN_score=0.810;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.114;fathmm-MKL_coding_rankscore=0.164;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.868;Eigen-PC-raw=-0.850;GenoCanyon_score=0.079;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.811;GERP++_RS_rankscore=0.178;phyloP100way_vertebrate=-0.298;phyloP100way_vertebrate_rankscore=0.082;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.301;phastCons20way_mammalian_rankscore=0.237;SiPhy_29way_logOdds=8.069;SiPhy_29way_logOdds_rankscore=0.297;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.873147;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47354905 rs11570115 T C 100 PASS AC=24;AF=0.0329473;AN=214;NS=2504;DP=17996;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.0068;EUR_AF=0.1024;SAS_AF=0.0194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570115;CLNALLELEID=186356;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1060;ExAC_nontcga_ALL=0.1055;ExAC_nontcga_AFR=0.0275;ExAC_nontcga_AMR=0.0679;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1269;ExAC_nontcga_NFE=0.1594;ExAC_nontcga_OTH=0.1233;ExAC_nontcga_SAS=0.0431;AF=0.0798;AF_popmax=0.1183;AF_male=0.0773;AF_female=0.0830;AF_raw=0.0800;AF_afr=0.0176;AF_sas=.;AF_amr=0.0603;AF_eas=0;AF_nfe=0.1183;AF_fin=0.1003;AF_asj=0.0931;AF_oth=0.0938;non_topmed_AF_popmax=0.1217;non_neuro_AF_popmax=0.1181;non_cancer_AF_popmax=.;controls_AF_popmax=0.1326;Kaviar_AF=0.0585245;Kaviar_AC=9048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1504538|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.947408;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 +11 47355233 rs397516000 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18988;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon28:c.G3065C:p.R1022P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516000;CLNALLELEID=51852;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.86;MutationAssessor_score_rankscore=0.833;MutationAssessor_pred=M;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=-5.93;PROVEAN_converted_rankscore=0.890;PROVEAN_pred=D;VEST3_score=0.904;VEST3_rankscore=0.970;MetaSVM_score=0.502;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.617;MetaLR_rankscore=0.865;MetaLR_pred=D;M-CAP_score=0.885;M-CAP_rankscore=0.991;M-CAP_pred=D;REVEL_score=0.774;REVEL_rankscore=0.925;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.255;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.998;DANN_rankscore=0.883;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.935;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.923;Eigen-PC-raw=0.821;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=7.556;phyloP100way_vertebrate_rankscore=0.810;phyloP20way_mammalian=0.876;phyloP20way_mammalian_rankscore=0.383;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.899;phastCons20way_mammalian_rankscore=0.380;SiPhy_29way_logOdds=17.854;SiPhy_29way_logOdds_rankscore=0.886;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.921e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.719e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.726e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.863446;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47356644 rs554694434 G C 100 PASS AC=7;AF=0.0239617;AN=214;NS=2504;DP=13467;EAS_AF=0.0288;AMR_AF=0.0562;AFR_AF=0.0129;EUR_AF=0.0308;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon26:c.C2854G:p.P952A;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554694434;CLNALLELEID=314287;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.837;SIFT_converted_rankscore=0.029;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.863;MutationTaster_converted_rankscore=0.283;MutationTaster_pred=N;MutationAssessor_score=0.98;MutationAssessor_score_rankscore=0.250;MutationAssessor_pred=L;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.072;MetaSVM_score=-0.992;MetaSVM_rankscore=0.321;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_rankscore=0.220;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.099;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.619;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.063;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.328;Eigen-PC-raw=-1.281;GenoCanyon_score=0.672;GenoCanyon_score_rankscore=0.224;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=1.01;GERP++_RS_rankscore=0.190;phyloP100way_vertebrate=0.867;phyloP100way_vertebrate_rankscore=0.274;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.017;phastCons100way_vertebrate_rankscore=0.192;phastCons20way_mammalian=0.075;phastCons20way_mammalian_rankscore=0.178;SiPhy_29way_logOdds=4.223;SiPhy_29way_logOdds_rankscore=0.099;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.086e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.774432;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47357416 rs3729936 G A 100 PASS AC=4;AF=0.0547125;AN=214;NS=2504;DP=11315;EAS_AF=0.0496;AMR_AF=0.0029;AFR_AF=0.0522;EUR_AF=0.0249;SAS_AF=0.1309;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0547125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729936;CLNALLELEID=51823;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0257;ExAC_nontcga_ALL=0.1194;ExAC_nontcga_AFR=0.1421;ExAC_nontcga_AMR=0.0537;ExAC_nontcga_EAS=0.1243;ExAC_nontcga_FIN=0.0793;ExAC_nontcga_NFE=0.0619;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.1501;AF=0.0353;AF_popmax=0.0560;AF_male=0.0355;AF_female=0.0350;AF_raw=0.0357;AF_afr=0.0560;AF_sas=.;AF_amr=0.0153;AF_eas=0.0341;AF_nfe=0.0284;AF_fin=0.0222;AF_asj=0.0379;AF_oth=0.0258;non_topmed_AF_popmax=0.0552;non_neuro_AF_popmax=0.0577;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.0271342;Kaviar_AC=4195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.758324;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47357437 rs397515985 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11706;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon25:c.C2728A:p.P910T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397515985;CLNALLELEID=51826;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.444;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=N;MutationAssessor_score=0.385;MutationAssessor_score_rankscore=0.122;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=0.57;PROVEAN_converted_rankscore=0.026;PROVEAN_pred=N;VEST3_score=0.316;VEST3_rankscore=0.718;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.284;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.668;M-CAP_pred=D;REVEL_score=0.262;REVEL_rankscore=0.579;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.220;CADD_raw_rankscore=0.115;CADD_phred=4.891;DANN_score=0.835;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.845;Eigen-PC-raw=-0.741;GenoCanyon_score=0.979;GenoCanyon_score_rankscore=0.299;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.493;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=1.506;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.037;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.936;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.773;phastCons20way_mammalian_rankscore=0.328;SiPhy_29way_logOdds=3.261;SiPhy_29way_logOdds_rankscore=0.064;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.868602;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47358997 rs3729953 G A 100 PASS AC=4;AF=0.048123;AN=214;NS=2504;DP=18520;EAS_AF=0.0506;AMR_AF=0.0058;AFR_AF=0.0136;EUR_AF=0.0378;SAS_AF=0.1329;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon24:c.C2547T:p.V849V;1000g2015aug_all=0.048123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729953;CLNALLELEID=51808;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0351;ExAC_nontcga_ALL=0.0473;ExAC_nontcga_AFR=0.0233;ExAC_nontcga_AMR=0.0133;ExAC_nontcga_EAS=0.0382;ExAC_nontcga_FIN=0.0468;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.1219;AF=0.0357;AF_popmax=0.0413;AF_male=0.0351;AF_female=0.0364;AF_raw=0.0356;AF_afr=0.0211;AF_sas=.;AF_amr=0.0153;AF_eas=0.0359;AF_nfe=0.0413;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0341;non_topmed_AF_popmax=0.0423;non_neuro_AF_popmax=0.0419;non_cancer_AF_popmax=.;controls_AF_popmax=0.0515;Kaviar_AF=0.0437252;Kaviar_AC=6760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000430073|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915080;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47360053 rs3729948 G C 100 PASS AC=4;AF=0.0694888;AN=214;NS=2504;DP=17149;EAS_AF=0.0506;AMR_AF=0.0086;AFR_AF=0.0915;EUR_AF=0.0388;SAS_AF=0.1339;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0694888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729948;CLNALLELEID=186368;CLNDN=Familial_hypertrophic_cardiomyopathy_4|not_specified;CLNDISDB=MedGen:C1861862,OMIM:115197|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0363;ExAC_nontcga_ALL=0.0531;ExAC_nontcga_AFR=0.0877;ExAC_nontcga_AMR=0.0152;ExAC_nontcga_EAS=0.0386;ExAC_nontcga_FIN=0.0469;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0305;ExAC_nontcga_SAS=0.1196;AF=0.0538;AF_popmax=0.0833;AF_male=0.0542;AF_female=0.0533;AF_raw=0.0538;AF_afr=0.0833;AF_sas=.;AF_amr=0.0200;AF_eas=0.0359;AF_nfe=0.0424;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0396;non_topmed_AF_popmax=0.0827;non_neuro_AF_popmax=0.0842;non_cancer_AF_popmax=.;controls_AF_popmax=0.0833;Kaviar_AF=0.0497212;Kaviar_AC=7687;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461397;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47361011 rs145934688 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18548;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145934688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0027;AF_popmax=0.0039;AF_male=0.0030;AF_female=0.0022;AF_raw=0.0027;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0035;AF_asj=0.0172;AF_oth=0.0009;non_topmed_AF_popmax=0.0039;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005175;Kaviar_AC=80;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.908623;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47361164 rs371297120 T A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19272;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371297120;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.015;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0097;ExAC_nontcga_SAS=0.0004;AF=0.0067;AF_popmax=0.0095;AF_male=0.0059;AF_female=0.0077;AF_raw=0.0067;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0150;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0119;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.785442;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47362465 rs10769254 G C 100 PASS AC=25;AF=0.340056;AN=214;NS=2504;DP=15356;EAS_AF=0.5952;AMR_AF=0.2695;AFR_AF=0.4107;EUR_AF=0.1819;SAS_AF=0.1943;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.340056;GWAS=rs10769254|Cardiovascular-disease||1E-15|PMID:30595370;ORegAnno_REGULATORY_P=rs10769254|Cardiovascular-disease||1E-15|PMID:30595370;avsnp150=rs10769254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2772;AF_popmax=0.5945;AF_male=0.2828;AF_female=0.2701;AF_raw=0.2772;AF_afr=0.3735;AF_sas=.;AF_amr=0.3561;AF_eas=0.5945;AF_nfe=0.1882;AF_fin=0.2879;AF_asj=0.1586;AF_oth=0.2486;non_topmed_AF_popmax=0.5975;non_neuro_AF_popmax=0.5945;non_cancer_AF_popmax=.;controls_AF_popmax=0.5910;Kaviar_AF=0.246158;Kaviar_AC=6407;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.229167::-0.192996;Heart_Left_Ventricle=Heart_Left_Ventricle::0.233456::-0.187645;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.364232;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 +11 47362642 rs11570086 C T 100 PASS AC=6;AF=0.00898562;AN=214;NS=2504;DP=16137;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0318;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0192;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0127;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0216;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0265;ExAC_nontcga_SAS=0.0028;AF=0.0157;AF_popmax=0.0229;AF_male=0.0155;AF_female=0.0159;AF_raw=0.0157;AF_afr=0.0031;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0229;AF_fin=0.0219;AF_asj=0.0103;AF_oth=0.0248;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0122508;Kaviar_AC=1894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.026346;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0192;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0127;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0216;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0265;ExAC_nontcga_SAS=0.0028;AF=0.0157;AF_popmax=0.0229;AF_male=0.0155;AF_female=0.0159;AF_raw=0.0157;AF_afr=0.0031;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0229;AF_fin=0.0219;AF_asj=0.0103;AF_oth=0.0248;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0122508;Kaviar_AC=1894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.026346;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47364187 rs376041792 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19971;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.G1566A:p.A522A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376041792;CLNALLELEID=51716;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.750641;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47364762 rs896818 A G 100 PASS AC=214;AF=0.964058;AN=214;NS=2504;DP=13289;EAS_AF=1;AMR_AF=0.9827;AFR_AF=0.8729;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.964058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs896818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9982;ExAC_nontcga_ALL=0.9904;ExAC_nontcga_AFR=0.8918;ExAC_nontcga_AMR=0.9929;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9989;ExAC_nontcga_OTH=0.9948;ExAC_nontcga_SAS=0.9994;AF=0.9707;AF_popmax=1;AF_male=0.9688;AF_female=0.9732;AF_raw=0.9707;AF_afr=0.8980;AF_sas=.;AF_amr=0.9882;AF_eas=1;AF_nfe=0.9992;AF_fin=1;AF_asj=0.9966;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941696;Kaviar_AC=145588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.831149;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 47365014 rs11570078 C T 100 PASS AC=27;AF=0.0782748;AN=214;NS=2504;DP=9073;EAS_AF=0.0496;AMR_AF=0.085;AFR_AF=0.0212;EUR_AF=0.1382;SAS_AF=0.1186;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570078;CLNALLELEID=186391;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1174;ExAC_nontcga_ALL=0.1501;ExAC_nontcga_AFR=0.0448;ExAC_nontcga_AMR=0.0870;ExAC_nontcga_EAS=0.0643;ExAC_nontcga_FIN=0.1905;ExAC_nontcga_NFE=0.1836;ExAC_nontcga_OTH=0.1582;ExAC_nontcga_SAS=0.1473;AF=0.0895;AF_popmax=0.1177;AF_male=0.0879;AF_female=0.0914;AF_raw=0.0895;AF_afr=0.0318;AF_sas=.;AF_amr=0.0519;AF_eas=0.0540;AF_nfe=0.1177;AF_fin=0.1264;AF_asj=0.0799;AF_oth=0.1157;non_topmed_AF_popmax=0.1157;non_neuro_AF_popmax=0.1159;non_cancer_AF_popmax=.;controls_AF_popmax=0.1082;Kaviar_AF=0.0767972;Kaviar_AC=11873;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.066008;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47365199 rs2856650 G A 100 PASS AC=68;AF=0.249601;AN=214;NS=2504;DP=8560;EAS_AF=0.2778;AMR_AF=0.415;AFR_AF=0.0477;EUR_AF=0.2913;SAS_AF=0.3333;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2856650;CLNALLELEID=186392;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3084;ExAC_nontcga_ALL=0.3165;ExAC_nontcga_AFR=0.0908;ExAC_nontcga_AMR=0.3889;ExAC_nontcga_EAS=0.3081;ExAC_nontcga_FIN=0.2819;ExAC_nontcga_NFE=0.3315;ExAC_nontcga_OTH=0.3891;ExAC_nontcga_SAS=0.3369;AF=0.2286;AF_popmax=0.3325;AF_male=0.2286;AF_female=0.2286;AF_raw=0.2318;AF_afr=0.0844;AF_sas=.;AF_amr=0.3325;AF_eas=0.2774;AF_nfe=0.2912;AF_fin=0.2464;AF_asj=0.3287;AF_oth=0.2690;non_topmed_AF_popmax=0.3258;non_neuro_AF_popmax=0.3469;non_cancer_AF_popmax=.;controls_AF_popmax=0.3333;Kaviar_AF=0.261911;Kaviar_AC=40492;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.264259::0.190381;Heart_Left_Ventricle=Heart_Left_Ventricle::0.273897::-0.252559;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.405246;ALLELE_END;VINYL_score=3 GT 0|0 1|0 1|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 +11 47365214 rs11570075 G A 100 PASS AC=14;AF=0.0147764;AN=214;NS=2504;DP=8655;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.0008;EUR_AF=0.0437;SAS_AF=0.0041;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0368;ExAC_nontcga_ALL=0.0283;ExAC_nontcga_AFR=0.0069;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0162;ExAC_nontcga_NFE=0.0419;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0064;AF=0.0286;AF_popmax=0.0434;AF_male=0.0278;AF_female=0.0297;AF_raw=0.0223;AF_afr=0.0110;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0434;AF_fin=0.0181;AF_asj=0.0179;AF_oth=0.0357;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0441;non_cancer_AF_popmax=.;controls_AF_popmax=0.0397;Kaviar_AF=0.0221019;Kaviar_AC=3417;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.053271;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +11 47367738 rs148006583 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19789;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148006583;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.810661;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47367848 rs573916965 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18296;EAS_AF=0.004;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G1000A:p.E334K;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573916965;CLNALLELEID=175197;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.874;Polyphen2_HDIV_rankscore=0.461;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.334;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.115;MutationAssessor_score_rankscore=0.881;MutationAssessor_pred=M;FATHMM_score=-0.56;FATHMM_converted_rankscore=0.724;FATHMM_pred=T;PROVEAN_score=-3.56;PROVEAN_converted_rankscore=0.688;PROVEAN_pred=D;VEST3_score=0.901;VEST3_rankscore=0.958;MetaSVM_score=-0.027;MetaSVM_rankscore=0.817;MetaSVM_pred=T;MetaLR_score=0.385;MetaLR_rankscore=0.741;MetaLR_pred=T;M-CAP_score=0.768;M-CAP_rankscore=0.982;M-CAP_pred=D;REVEL_score=0.757;REVEL_rankscore=0.918;MutPred_score=0.912;MutPred_rankscore=0.983;CADD_raw=4.875;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.999;DANN_rankscore=0.982;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.920;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.577;Eigen-PC-raw=0.581;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.570;integrated_fitCons_score_rankscore=0.322;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=7.532;phyloP100way_vertebrate_rankscore=0.807;phyloP20way_mammalian=0.934;phyloP20way_mammalian_rankscore=0.450;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=17.827;SiPhy_29way_logOdds_rankscore=0.885;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0050;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.066e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0026;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0026;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932637;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +11 47367871 rs34580776 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18729;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G977A:p.R326Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34580776;CLNALLELEID=51983;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.026;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.205;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.785;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.583;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.235;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.407;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.274;CADD_raw_rankscore=0.572;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.951;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_rankscore=0.487;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.054;Eigen-PC-raw=0.095;GenoCanyon_score=0.978;GenoCanyon_score_rankscore=0.298;integrated_fitCons_score=0.570;integrated_fitCons_score_rankscore=0.322;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=1.164;phyloP100way_vertebrate_rankscore=0.312;phyloP20way_mammalian=0.934;phyloP20way_mammalian_rankscore=0.450;phastCons100way_vertebrate=0.305;phastCons100way_vertebrate_rankscore=0.251;phastCons20way_mammalian=0.841;phastCons20way_mammalian_rankscore=0.351;SiPhy_29way_logOdds=11.343;SiPhy_29way_logOdds_rankscore=0.486;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0155;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0.0009;AF=0.0067;AF_popmax=0.0095;AF_male=0.0058;AF_female=0.0077;AF_raw=0.0067;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0150;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0194;Kaviar_AF=0.0039068;Kaviar_AC=604;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905358;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47368153 rs3729991 G T 100 PASS AC=2;AF=0.00838658;AN=214;NS=2504;DP=16131;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729991;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0242;ExAC_nontcga_ALL=0.0186;ExAC_nontcga_AFR=0.0055;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0116;AF=0.0183;AF_popmax=0.0247;AF_male=0.0175;AF_female=0.0192;AF_raw=0.0186;AF_afr=0.0056;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0247;AF_fin=0.0332;AF_asj=0.0103;AF_oth=0.0167;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0249;non_cancer_AF_popmax=.;controls_AF_popmax=0.0236;Kaviar_AF=0.0174771;Kaviar_AC=2702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.235897;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47368860 rs542981010 AAACC A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542981010;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0011;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.366485;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47369443 rs11570058 G A 100 PASS AC=26;AF=0.0611022;AN=214;NS=2504;DP=16010;EAS_AF=0.0169;AMR_AF=0.0807;AFR_AF=0.034;EUR_AF=0.1352;SAS_AF=0.0532;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570058;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1184;ExAC_nontcga_ALL=0.1594;ExAC_nontcga_AFR=0.0775;ExAC_nontcga_AMR=0.1349;ExAC_nontcga_EAS=0.0476;ExAC_nontcga_FIN=0.3043;ExAC_nontcga_NFE=0.2346;ExAC_nontcga_OTH=0.1474;ExAC_nontcga_SAS=0.0823;AF=0.0898;AF_popmax=0.1180;AF_male=0.0878;AF_female=0.0922;AF_raw=0.0900;AF_afr=0.0397;AF_sas=.;AF_amr=0.0542;AF_eas=0.0206;AF_nfe=0.1180;AF_fin=0.1247;AF_asj=0.0793;AF_oth=0.1087;non_topmed_AF_popmax=0.1158;non_neuro_AF_popmax=0.1161;non_cancer_AF_popmax=.;controls_AF_popmax=0.1081;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.777187;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47369453 rs187455402 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15846;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C776T:p.A259V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187455402;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.273;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.399;PROVEAN_pred=N;VEST3_score=0.291;VEST3_rankscore=0.387;MetaSVM_score=-0.940;MetaSVM_rankscore=0.426;MetaSVM_pred=T;MetaLR_score=0.158;MetaLR_rankscore=0.491;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.716;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.955;CADD_raw_rankscore=0.296;CADD_phred=15.93;DANN_score=0.996;DANN_rankscore=0.717;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.737;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.171;Eigen-PC-raw=-0.034;GenoCanyon_score=0.972;GenoCanyon_score_rankscore=0.293;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.64;GERP++_RS_rankscore=0.572;phyloP100way_vertebrate=5.990;phyloP100way_vertebrate_rankscore=0.701;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.563;phastCons20way_mammalian_rankscore=0.282;SiPhy_29way_logOdds=12.778;SiPhy_29way_logOdds_rankscore=0.567;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.854016;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47370041 rs3729989 T C 100 PASS AC=27;AF=0.0670927;AN=214;NS=2504;DP=18193;EAS_AF=0.0268;AMR_AF=0.0836;AFR_AF=0.0431;EUR_AF=0.1412;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon6:c.A706G:p.S236G;1000g2015aug_all=0.0670927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729989;CLNALLELEID=51956;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.211;MutationTaster_pred=P;MutationAssessor_score=-1.67;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=-1.055;MetaSVM_rankscore=0.130;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.173;REVEL_rankscore=0.443;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.243;CADD_raw_rankscore=0.117;CADD_phred=5.127;DANN_score=0.220;DANN_rankscore=0.009;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_rankscore=0.079;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.027;Eigen-PC-raw=-0.775;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=3.187;phyloP100way_vertebrate_rankscore=0.504;phyloP20way_mammalian=-0.420;phyloP20way_mammalian_rankscore=0.060;phastCons100way_vertebrate=0.934;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.448;phastCons20way_mammalian_rankscore=0.262;SiPhy_29way_logOdds=13.832;SiPhy_29way_logOdds_rankscore=0.627;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000165916.4|ENSG00000165912.11|ENSG00000110514.14|ENSG00000165912.11|ENSG00000110514.14|ENSG00000110514.14|ENSG00000165916.4|ENSG00000165916.4|ENSG00000134575.5|ENSG00000165916.4|ENSG00000165912.11|ENSG00000110514.14;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1263;ExAC_nontcga_ALL=0.1066;ExAC_nontcga_AFR=0.0624;ExAC_nontcga_AMR=0.0473;ExAC_nontcga_EAS=0.0307;ExAC_nontcga_FIN=0.1390;ExAC_nontcga_NFE=0.1411;ExAC_nontcga_OTH=0.1149;ExAC_nontcga_SAS=0.0754;AF=0.0965;AF_popmax=0.1217;AF_male=0.0952;AF_female=0.0982;AF_raw=0.0967;AF_afr=0.0534;AF_sas=.;AF_amr=0.0554;AF_eas=0.0334;AF_nfe=0.1217;AF_fin=0.1286;AF_asj=0.0833;AF_oth=0.1105;non_topmed_AF_popmax=0.1194;non_neuro_AF_popmax=0.1202;non_cancer_AF_popmax=.;controls_AF_popmax=0.1132;Kaviar_AF=0.100898;Kaviar_AC=15599;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.100379::-0.215729;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.574377;ALLELE_END;VINYL_score=3.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +11 47370107 rs188327777 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15047;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188327777;CLNALLELEID=371465;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.788e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.354e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.555180;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47370150 rs576812684 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=12857;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576812684;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.349997;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371261 rs11570053 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=16499;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570053;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0016;AF_popmax=0.0035;AF_male=0.0018;AF_female=0.0014;AF_raw=0.0016;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.566781;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371330 rs138753870 T C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=15949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.A649G:p.S217G;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138753870;CLNALLELEID=51950;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.907;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.905;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.697;FATHMM_pred=T;PROVEAN_score=-2.69;PROVEAN_converted_rankscore=0.574;PROVEAN_pred=D;VEST3_score=0.124;VEST3_rankscore=0.234;MetaSVM_score=-0.445;MetaSVM_rankscore=0.706;MetaSVM_pred=T;MetaLR_score=0.280;MetaLR_rankscore=0.652;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.321;REVEL_rankscore=0.647;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.738;CADD_raw_rankscore=0.270;CADD_phred=14.62;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.693;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.018;Eigen-PC-raw=-0.017;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=4.162;phyloP100way_vertebrate_rankscore=0.577;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.935;phastCons20way_mammalian_rankscore=0.408;SiPhy_29way_logOdds=10.479;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0122;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0017852;Kaviar_AC=276;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.807663;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371414 rs11570052 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=16221;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.G565A:p.V189I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570052;CLNALLELEID=45276;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.399;SIFT_converted_rankscore=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.199;Polyphen2_HDIV_rankscore=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.366;Polyphen2_HVAR_rankscore=0.416;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_score_rankscore=0.294;MutationAssessor_pred=L;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.142;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.059;MetaSVM_score=-0.782;MetaSVM_rankscore=0.562;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_rankscore=0.643;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.648;M-CAP_pred=D;REVEL_score=0.157;REVEL_rankscore=0.414;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.583;CADD_raw_rankscore=0.372;CADD_phred=20.0;DANN_score=0.995;DANN_rankscore=0.686;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.500;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.022;Eigen-PC-raw=0.112;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.8;GERP++_RS_rankscore=0.610;phyloP100way_vertebrate=3.210;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.654;phastCons20way_mammalian_rankscore=0.299;SiPhy_29way_logOdds=11.703;SiPhy_29way_logOdds_rankscore=0.507;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0007;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0042;AF=0.0014;AF_popmax=0.0025;AF_male=0.0012;AF_female=0.0016;AF_raw=0.0014;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0024191;Kaviar_AC=374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.756327;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371442 rs11570051 G A 100 PASS AC=7;AF=0.0249601;AN=214;NS=2504;DP=14880;EAS_AF=0.005;AMR_AF=0.0764;AFR_AF=0.0015;EUR_AF=0.0408;SAS_AF=0.0245;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.C537T:p.A179A;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570051;CLNALLELEID=51938;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.0102;ExAC_nontcga_AMR=0.0925;ExAC_nontcga_EAS=0.0029;ExAC_nontcga_FIN=0.0657;ExAC_nontcga_NFE=0.0495;ExAC_nontcga_OTH=0.0486;ExAC_nontcga_SAS=0.0284;AF=0.0353;AF_popmax=0.0731;AF_male=0.0363;AF_female=0.0339;AF_raw=0.0352;AF_afr=0.0089;AF_sas=.;AF_amr=0.0731;AF_eas=0.0013;AF_nfe=0.0466;AF_fin=0.0493;AF_asj=0.0655;AF_oth=0.0524;non_topmed_AF_popmax=0.0728;non_neuro_AF_popmax=0.0668;non_cancer_AF_popmax=.;controls_AF_popmax=0.0610;Kaviar_AF=0.0392039;Kaviar_AC=6061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788302;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 47371484 rs11570050 AG A 100 PASS AC=164;AF=0.610823;AN=214;NS=2504;DP=15205;EAS_AF=0.6607;AMR_AF=0.6643;AFR_AF=0.3555;EUR_AF=0.7058;SAS_AF=0.7689;AA=GGG|GGGG|GGG|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570050;CLNALLELEID=51933;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6856;ExAC_nontcga_AFR=0.4282;ExAC_nontcga_AMR=0.6001;ExAC_nontcga_EAS=0.6354;ExAC_nontcga_FIN=0.6219;ExAC_nontcga_NFE=0.7338;ExAC_nontcga_OTH=0.7225;ExAC_nontcga_SAS=0.7156;AF=0.6108;AF_popmax=0.7227;AF_male=0.6067;AF_female=0.6160;AF_raw=0.6108;AF_afr=0.3905;AF_sas=.;AF_amr=0.6285;AF_eas=0.6621;AF_nfe=0.7227;AF_fin=0.6205;AF_asj=0.7483;AF_oth=0.6317;non_topmed_AF_popmax=0.7239;non_neuro_AF_popmax=0.7239;non_cancer_AF_popmax=.;controls_AF_popmax=0.7230;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588193;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11570050;CLNALLELEID=51933;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6856;ExAC_nontcga_AFR=0.4282;ExAC_nontcga_AMR=0.6001;ExAC_nontcga_EAS=0.6354;ExAC_nontcga_FIN=0.6219;ExAC_nontcga_NFE=0.7338;ExAC_nontcga_OTH=0.7225;ExAC_nontcga_SAS=0.7156;AF=0.6108;AF_popmax=0.7227;AF_male=0.6067;AF_female=0.6160;AF_raw=0.6108;AF_afr=0.3905;AF_sas=.;AF_amr=0.6285;AF_eas=0.6621;AF_nfe=0.7227;AF_fin=0.6205;AF_asj=0.7483;AF_oth=0.6317;non_topmed_AF_popmax=0.7239;non_neuro_AF_popmax=0.7239;non_cancer_AF_popmax=.;controls_AF_popmax=0.7230;Kaviar_AF=0.0186738;Kaviar_AC=2887;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588193;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 +11 47371578 rs3218719 G A 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=14881;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.C492T:p.G164G;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3218719;CLNALLELEID=51930;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0307;ExAC_nontcga_ALL=0.0277;ExAC_nontcga_AFR=0.0075;ExAC_nontcga_AMR=0.05;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0545;ExAC_nontcga_NFE=0.0539;ExAC_nontcga_OTH=0.0069;ExAC_nontcga_SAS=0.0070;AF=0.0209;AF_popmax=0.0301;AF_male=0.0199;AF_female=0.0221;AF_raw=0.0209;AF_afr=0.0054;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0301;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0259;non_topmed_AF_popmax=0.0294;non_neuro_AF_popmax=0.0302;non_cancer_AF_popmax=.;controls_AF_popmax=0.0220;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855628;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47371598 rs3729986 C T 100 PASS AC=21;AF=0.0329473;AN=214;NS=2504;DP=16449;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.003;EUR_AF=0.1064;SAS_AF=0.0256;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.G472A:p.V158M;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729986;CLNALLELEID=51928;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.816;Polyphen2_HDIV_rankscore=0.436;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_rankscore=0.443;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.853;MutationTaster_converted_rankscore=0.284;MutationTaster_pred=N;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=-0.56;FATHMM_converted_rankscore=0.712;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.065;MetaSVM_score=-1.023;MetaSVM_rankscore=0.227;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.040;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.228;REVEL_rankscore=0.532;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.662;CADD_raw_rankscore=0.625;CADD_phred=24.5;DANN_score=0.996;DANN_rankscore=0.745;fathmm-MKL_coding_score=0.789;fathmm-MKL_coding_rankscore=0.387;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.245;Eigen-PC-raw=-0.308;GenoCanyon_score=0.833;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.742;phyloP100way_vertebrate_rankscore=0.257;phyloP20way_mammalian=-0.437;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.954;phastCons20way_mammalian_rankscore=0.431;SiPhy_29way_logOdds=13.427;SiPhy_29way_logOdds_rankscore=0.603;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0892;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0901;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1634;ExAC_nontcga_NFE=0.1541;ExAC_nontcga_OTH=0.075;ExAC_nontcga_SAS=0.0369;AF=0.0709;AF_popmax=0.1015;AF_male=0.0683;AF_female=0.0741;AF_raw=0.0711;AF_afr=0.0188;AF_sas=.;AF_amr=0.0557;AF_eas=0;AF_nfe=0.1015;AF_fin=0.0964;AF_asj=0.0828;AF_oth=0.0827;non_topmed_AF_popmax=0.1036;non_neuro_AF_popmax=0.1020;non_cancer_AF_popmax=.;controls_AF_popmax=0.1005;Kaviar_AF=0.0469787;Kaviar_AC=7263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.787283;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 +11 47371664 rs185449721 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17219;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYBPC3;GeneDetail.refGene=NM_000256:exon4:c.407-1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185449721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.139;CADD_raw_rankscore=0.437;CADD_phred=22.6;DANN_score=0.980;DANN_rankscore=0.368;fathmm-MKL_coding_score=0.071;fathmm-MKL_coding_rankscore=0.129;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.378;Eigen-PC-raw=0.022;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.370;integrated_fitCons_score=0.057;integrated_fitCons_score_rankscore=0.007;integrated_confidence_value=0;GERP++_RS=2.18;GERP++_RS_rankscore=0.267;phyloP100way_vertebrate=0.397;phyloP100way_vertebrate_rankscore=0.205;phyloP20way_mammalian=0.698;phyloP20way_mammalian_rankscore=0.298;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.864;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=10.053;SiPhy_29way_logOdds_rankscore=0.412;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.948;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.057e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.189846;ALLELE_END;VINYL_score=14 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47372741 rs138484124 C A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18689;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138484124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313923;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 47372749 rs3729985 C G 100 PASS AC=1;AF=0.0607029;AN=214;NS=2504;DP=19339;EAS_AF=0.0516;AMR_AF=0.0375;AFR_AF=0.0053;EUR_AF=0.0268;SAS_AF=0.1963;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0607029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0217;ExAC_nontcga_ALL=0.0584;ExAC_nontcga_AFR=0.0153;ExAC_nontcga_AMR=0.0510;ExAC_nontcga_EAS=0.0633;ExAC_nontcga_FIN=0.0478;ExAC_nontcga_NFE=0.0365;ExAC_nontcga_OTH=0.0455;ExAC_nontcga_SAS=0.2291;AF=0.0287;AF_popmax=0.0648;AF_male=0.0284;AF_female=0.0291;AF_raw=0.0287;AF_afr=0.0214;AF_sas=.;AF_amr=0.0531;AF_eas=0.0648;AF_nfe=0.0261;AF_fin=0.0383;AF_asj=0.0103;AF_oth=0.0276;non_topmed_AF_popmax=0.0651;non_neuro_AF_popmax=0.0648;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0236025;Kaviar_AC=3649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313923;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168330 rs199972628 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19608;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T279C:p.H93H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199972628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.874e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.598e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=.;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.824776;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168361 rs17215437 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20945;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.G248A:p.R83H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215437;CLNALLELEID=20580;CLNDN=Ventricular_fibrillation|Syncope|Periodic_paralysis|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0003768,MedGen:C1279412|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.044;SIFT_converted_rankscore=0.410;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=N;MutationTaster_score=0.518;MutationTaster_converted_rankscore=0.319;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-4.39;PROVEAN_converted_rankscore=0.772;PROVEAN_pred=D;VEST3_score=0.677;VEST3_rankscore=0.685;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.548;MetaLR_rankscore=0.834;MetaLR_pred=D;M-CAP_score=0.035;M-CAP_rankscore=0.560;M-CAP_pred=D;REVEL_score=0.584;REVEL_rankscore=0.835;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.265;CADD_raw_rankscore=0.333;CADD_phred=17.94;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.692;fathmm-MKL_coding_rankscore=0.338;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.488;Eigen-PC-raw=-0.400;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.37;GERP++_RS_rankscore=0.375;phyloP100way_vertebrate=1.997;phyloP100way_vertebrate_rankscore=0.402;phyloP20way_mammalian=-0.436;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.971;phastCons20way_mammalian_rankscore=0.463;SiPhy_29way_logOdds=7.208;SiPhy_29way_logOdds_rankscore=0.249;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0034;AF_popmax=0.0050;AF_male=0.0033;AF_female=0.0035;AF_raw=0.0034;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0026;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0045;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0034;Kaviar_AF=0.0030595;Kaviar_AC=473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.553020;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 74168411 rs2270676 A G 100 PASS AC=25;AF=0.141174;AN=214;NS=2504;DP=19189;EAS_AF=0.1627;AMR_AF=0.0879;AFR_AF=0.1241;EUR_AF=0.1103;SAS_AF=0.2117;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T198C:p.F66F;1000g2015aug_all=0.141174;GWAS=rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915;ORegAnno_REGULATORY_P=rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915;avsnp150=rs2270676;CLNALLELEID=254321;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1084;ExAC_nontcga_ALL=0.1367;ExAC_nontcga_AFR=0.1322;ExAC_nontcga_AMR=0.0869;ExAC_nontcga_EAS=0.1257;ExAC_nontcga_FIN=0.2147;ExAC_nontcga_NFE=0.1168;ExAC_nontcga_OTH=0.1571;ExAC_nontcga_SAS=0.2119;AF=0.1385;AF_popmax=0.1412;AF_male=0.1366;AF_female=0.1409;AF_raw=0.1387;AF_afr=0.1188;AF_sas=.;AF_amr=0.0861;AF_eas=0.1412;AF_nfe=0.1309;AF_fin=0.2313;AF_asj=0.0897;AF_oth=0.1581;non_topmed_AF_popmax=0.1401;non_neuro_AF_popmax=0.1412;non_cancer_AF_popmax=.;controls_AF_popmax=0.1653;Kaviar_AF=0.128297;Kaviar_AC=19835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.003009;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 +11 111781003 rs185795480 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20799;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185795480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.517e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.86e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1496730|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.450023;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 111781047 rs11603779 A C 100 PASS AC=75;AF=0.239816;AN=214;NS=2504;DP=22006;EAS_AF=0.1905;AMR_AF=0.3069;AFR_AF=0.1952;EUR_AF=0.3231;SAS_AF=0.2178;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11603779;CLNALLELEID=53401;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.433;SIFT_converted_rankscore=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.68;FATHMM_converted_rankscore=0.904;FATHMM_pred=D;PROVEAN_score=2.13;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.083;VEST3_rankscore=0.077;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.150;REVEL_rankscore=0.401;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.652;CADD_raw_rankscore=0.047;CADD_phred=0.094;DANN_score=0.508;DANN_rankscore=0.044;fathmm-MKL_coding_score=0.039;fathmm-MKL_coding_rankscore=0.092;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.988;Eigen-PC-raw=-1.238;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=-6.74;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.714;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-0.136;phyloP20way_mammalian_rankscore=0.110;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.074;phastCons20way_mammalian_rankscore=0.178;SiPhy_29way_logOdds=2.709;SiPhy_29way_logOdds_rankscore=0.048;Interpro_domain=HSP20-like_chaperone;GTEx_V6p_gene=ENSG00000109846.3|ENSG00000170145.4|ENSG00000086848.10|ENSG00000255561.2|ENSG00000137720.3|ENSG00000137720.3|ENSG00000137720.3|ENSG00000109846.3|ENSG00000109846.3|ENSG00000137713.11;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3000;ExAC_nontcga_ALL=0.2685;ExAC_nontcga_AFR=0.2113;ExAC_nontcga_AMR=0.2920;ExAC_nontcga_EAS=0.1819;ExAC_nontcga_FIN=0.2519;ExAC_nontcga_NFE=0.2925;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.2507;AF=0.2571;AF_popmax=0.3038;AF_male=0.2574;AF_female=0.2568;AF_raw=0.2573;AF_afr=0.2254;AF_sas=.;AF_amr=0.3038;AF_eas=0.1754;AF_nfe=0.2796;AF_fin=0.2496;AF_asj=0.3483;AF_oth=0.2726;non_topmed_AF_popmax=0.3;non_neuro_AF_popmax=0.3152;non_cancer_AF_popmax=.;controls_AF_popmax=0.3211;Kaviar_AF=0.26968;Kaviar_AC=41693;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.285985::-0.224279;Heart_Left_Ventricle=Heart_Left_Ventricle::0.299632::-0.23434;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1496730|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.411629;ALLELE_END;VINYL_score=5 GT 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|1 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|1 1|0 0|1 1|1 0|1 1|1 +11 111782284 rs2228387 C T 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=18032;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CRYAB:NM_001289808:exon1:c.G165A:p.L55L,CRYAB:NM_001289807:exon2:c.G165A:p.L55L,CRYAB:NM_001885:exon2:c.G165A:p.L55L;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228387;CLNALLELEID=53400;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0209;ExAC_nontcga_NFE=0.0238;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0316;AF=0.0136;AF_popmax=0.0212;AF_male=0.0126;AF_female=0.0148;AF_raw=0.0136;AF_afr=0.0038;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0212;AF_fin=0.0135;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.0211;non_neuro_AF_popmax=0.0209;non_cancer_AF_popmax=.;controls_AF_popmax=0.0227;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000044928|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.834016;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +11 118011860 rs12804550 G A 100 PASS AC=43;AF=0.141973;AN=214;NS=2504;DP=15085;EAS_AF=0.1062;AMR_AF=0.1369;AFR_AF=0.1407;EUR_AF=0.1928;SAS_AF=0.1319;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12804550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1600;AF_popmax=0.1833;AF_male=0.1597;AF_female=0.1602;AF_raw=0.1607;AF_afr=0.1354;AF_sas=.;AF_amr=0.1552;AF_eas=0.0999;AF_nfe=0.1833;AF_fin=0.1445;AF_asj=0.2172;AF_oth=0.1479;non_topmed_AF_popmax=0.1753;non_neuro_AF_popmax=0.1842;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0361121;Kaviar_AC=5583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485369|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +11 118015832 rs45539032 G A 100 PASS AC=8;AF=0.0349441;AN=214;NS=2504;DP=20023;EAS_AF=0.0248;AMR_AF=0.0288;AFR_AF=0.0431;EUR_AF=0.0378;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN4B:NM_174934:exon2:c.C174T:p.C58C;1000g2015aug_all=0.0349441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45539032;CLNALLELEID=142740;CLNDN=Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0374;ExAC_nontcga_ALL=0.0345;ExAC_nontcga_AFR=0.0406;ExAC_nontcga_AMR=0.0268;ExAC_nontcga_EAS=0.0109;ExAC_nontcga_FIN=0.0133;ExAC_nontcga_NFE=0.0400;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0373;AF=0.0336;AF_popmax=0.0382;AF_male=0.0334;AF_female=0.0337;AF_raw=0.0336;AF_afr=0.0382;AF_sas=.;AF_amr=0.0248;AF_eas=0.0141;AF_nfe=0.0373;AF_fin=0.0144;AF_asj=0.0483;AF_oth=0.0349;non_topmed_AF_popmax=0.0379;non_neuro_AF_popmax=0.0373;non_cancer_AF_popmax=.;controls_AF_popmax=0.0374;Kaviar_AF=0.0353876;Kaviar_AC=5471;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485365|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.865055;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +11 118015959 rs143136332 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17802;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SCN4B;GeneDetail.refGene=NM_001142349:c.-1279G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143136332;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.755e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.28e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000045588|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485365|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.139305;ALLELE_END;VINYL_score=5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118023424 rs144902867 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12790;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SCN4B;GeneDetail.refGene=NM_174934:c.-36C>G\x3bNM_001142348:c.-36C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144902867;CLNALLELEID=372202;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.056e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.876e-05;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0;AF=9.56e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000443850|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1943539|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.629526;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118037564 rs8192614 G A 100 PASS AC=23;AF=0.0780751;AN=214;NS=2504;DP=15578;EAS_AF=0.0139;AMR_AF=0.0605;AFR_AF=0.112;EUR_AF=0.1054;SAS_AF=0.0828;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SCN2B;GeneDetail.refGene=NM_004588:c.*38C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0928;ExAC_nontcga_ALL=0.0905;ExAC_nontcga_AFR=0.1046;ExAC_nontcga_AMR=0.0391;ExAC_nontcga_EAS=0.0191;ExAC_nontcga_FIN=0.1300;ExAC_nontcga_NFE=0.1062;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.0830;AF=0.1007;AF_popmax=0.1038;AF_male=0.0994;AF_female=0.1022;AF_raw=0.1009;AF_afr=0.1033;AF_sas=.;AF_amr=0.0567;AF_eas=0.0219;AF_nfe=0.1038;AF_fin=0.1260;AF_asj=0.1138;AF_oth=0.0970;non_topmed_AF_popmax=0.1032;non_neuro_AF_popmax=0.1045;non_cancer_AF_popmax=.;controls_AF_popmax=0.1029;Kaviar_AF=0.0890674;Kaviar_AC=13770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.015659;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 +11 118037569 rs202025244 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15495;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SCN2B;GeneDetail.refGene=NM_004588:c.*33G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202025244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.769e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.015659;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118037813 rs8192613 G T 100 PASS AC=110;AF=0.514377;AN=214;NS=2504;DP=16173;EAS_AF=0.7758;AMR_AF=0.5202;AFR_AF=0.3381;EUR_AF=0.4811;SAS_AF=0.5133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.514377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192613;CLNALLELEID=254012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.034;esp6500siv2_ea=0.4707;ExAC_nontcga_ALL=0.5050;ExAC_nontcga_AFR=0.3633;ExAC_nontcga_AMR=0.4803;ExAC_nontcga_EAS=0.7728;ExAC_nontcga_FIN=0.5623;ExAC_nontcga_NFE=0.4746;ExAC_nontcga_OTH=0.5232;ExAC_nontcga_SAS=0.5485;AF=0.4615;AF_popmax=0.7713;AF_male=0.4668;AF_female=0.4548;AF_raw=0.4619;AF_afr=0.3490;AF_sas=.;AF_amr=0.4669;AF_eas=0.7713;AF_nfe=0.4682;AF_fin=0.5584;AF_asj=0.5655;AF_oth=0.4815;non_topmed_AF_popmax=0.7728;non_neuro_AF_popmax=0.7713;non_cancer_AF_popmax=.;controls_AF_popmax=0.7665;Kaviar_AF=0.489121;Kaviar_AC=75619;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.479087::0.162783;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1502562|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|1 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 0|0 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|1 1|1 0|1 0|0 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|1 1|1 0|0 +11 118038741 rs647975 C T 100 PASS AC=3;AF=0.251797;AN=214;NS=2504;DP=19239;EAS_AF=0.0933;AMR_AF=0.0836;AFR_AF=0.73;EUR_AF=0.0159;SAS_AF=0.1309;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs647975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1952;AF_popmax=0.6337;AF_male=0.2014;AF_female=0.1873;AF_raw=0.1955;AF_afr=0.6337;AF_sas=.;AF_amr=0.0390;AF_eas=0.0782;AF_nfe=0.0211;AF_fin=0.0155;AF_asj=0.0034;AF_oth=0.0726;non_topmed_AF_popmax=0.6334;non_neuro_AF_popmax=0.6218;non_cancer_AF_popmax=.;controls_AF_popmax=0.6187;Kaviar_AF=0.0152521;Kaviar_AC=2358;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +11 118039016 rs200842493 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21060;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200842493;CLNALLELEID=461723;CLNDN=Atrial_fibrillation,_familial,_14;CLNDISDB=MedGen:C3809312,OMIM:615378;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.01;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.133619;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 118039273 rs645675 T C 100 PASS AC=8;AF=0.249601;AN=214;NS=2504;DP=19370;EAS_AF=0.2083;AMR_AF=0.0951;AFR_AF=0.6672;EUR_AF=0.0179;SAS_AF=0.0757;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs645675;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0163;ExAC_nontcga_ALL=0.0884;ExAC_nontcga_AFR=0.5700;ExAC_nontcga_AMR=0.0630;ExAC_nontcga_EAS=0.1904;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0655;AF=0.1762;AF_popmax=0.5566;AF_male=0.1830;AF_female=0.1677;AF_raw=0.1764;AF_afr=0.5566;AF_sas=.;AF_amr=0.0684;AF_eas=0.2018;AF_nfe=0.0106;AF_fin=0.0155;AF_asj=0.0517;AF_oth=0.0767;non_topmed_AF_popmax=0.5562;non_neuro_AF_popmax=0.5444;non_cancer_AF_popmax=.;controls_AF_popmax=0.5393;Kaviar_AF=0.0828903;Kaviar_AC=12815;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +11 123504959 rs1148110 C G 100 PASS AC=126;AF=0.750599;AN=214;NS=2504;DP=20485;EAS_AF=0.7222;AMR_AF=0.6225;AFR_AF=0.972;EUR_AF=0.5467;SAS_AF=0.7812;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.750599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1148110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5523;ExAC_nontcga_ALL=0.6317;ExAC_nontcga_AFR=0.9114;ExAC_nontcga_AMR=0.5888;ExAC_nontcga_EAS=0.7547;ExAC_nontcga_FIN=0.4958;ExAC_nontcga_NFE=0.5547;ExAC_nontcga_OTH=0.6039;ExAC_nontcga_SAS=0.7540;AF=0.6537;AF_popmax=0.9099;AF_male=0.6614;AF_female=0.6440;AF_raw=0.6534;AF_afr=0.9099;AF_sas=.;AF_amr=0.6167;AF_eas=0.7448;AF_nfe=0.5417;AF_fin=0.4965;AF_asj=0.5979;AF_oth=0.6029;non_topmed_AF_popmax=0.9104;non_neuro_AF_popmax=0.9066;non_cancer_AF_popmax=.;controls_AF_popmax=0.9089;Kaviar_AF=0.605458;Kaviar_AC=93605;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|0 1|0 1|1 1|0 1|0 1|0 1|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 1|0 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 0|0 1|1 +11 123508842 rs7112258 A G 100 PASS AC=3;AF=0.0958466;AN=214;NS=2504;DP=20325;EAS_AF=0.0228;AMR_AF=0.0965;AFR_AF=0.236;EUR_AF=0.0159;SAS_AF=0.0634;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7112258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0113;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0715;AF_popmax=0.2081;AF_male=0.0711;AF_female=0.0721;AF_raw=0.0715;AF_afr=0.2081;AF_sas=.;AF_amr=0.0861;AF_eas=0.0251;AF_nfe=0.0143;AF_fin=0.0175;AF_asj=0.0034;AF_oth=0.0359;non_topmed_AF_popmax=0.2076;non_neuro_AF_popmax=0.2066;non_cancer_AF_popmax=.;controls_AF_popmax=0.2101;Kaviar_AF=0.0072832;Kaviar_AC=1126;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123513161 rs1275085 G A 100 PASS AC=25;AF=0.0820687;AN=214;NS=2504;DP=18757;EAS_AF=0.004;AMR_AF=0.0634;AFR_AF=0.0953;EUR_AF=0.0984;SAS_AF=0.1411;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C438T:p.T146T,SCN3B:NM_001040151:exon4:c.C438T:p.T146T;1000g2015aug_all=0.0820687;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1275085;CLNALLELEID=254022;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0896;ExAC_nontcga_ALL=0.0900;ExAC_nontcga_AFR=0.0940;ExAC_nontcga_AMR=0.0386;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0927;ExAC_nontcga_NFE=0.0911;ExAC_nontcga_OTH=0.1026;ExAC_nontcga_SAS=0.1599;AF=0.0851;AF_popmax=0.0958;AF_male=0.0843;AF_female=0.0860;AF_raw=0.0851;AF_afr=0.0958;AF_sas=.;AF_amr=0.0343;AF_eas=0.0013;AF_nfe=0.0878;AF_fin=0.0892;AF_asj=0.1181;AF_oth=0.0974;non_topmed_AF_popmax=0.0960;non_neuro_AF_popmax=0.0973;non_cancer_AF_popmax=.;controls_AF_popmax=0.0981;Kaviar_AF=0.0865254;Kaviar_AC=13377;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804817;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +11 123513341 rs201799741 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18351;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C258T:p.S86S,SCN3B:NM_001040151:exon4:c.C258T:p.S86S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201799741;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=3.804e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.425e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.379e-05;AF_popmax=0.0001;AF_male=5.733e-05;AF_female=7.19e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869310;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123524389 rs8192616 A G 100 PASS AC=1;AF=0.0443291;AN=214;NS=2504;DP=18224;EAS_AF=0.0486;AMR_AF=0.1239;AFR_AF=0.0166;EUR_AF=0.005;SAS_AF=0.0613;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0139;AF_popmax=0.1667;AF_male=0.0135;AF_female=0.0145;AF_raw=0.0139;AF_afr=0.0156;AF_sas=.;AF_amr=0.1667;AF_eas=0.0385;AF_nfe=0.0022;AF_fin=0.0107;AF_asj=0;AF_oth=0.0267;non_topmed_AF_popmax=0.1720;non_neuro_AF_popmax=0.1467;non_cancer_AF_popmax=.;controls_AF_popmax=0.1475;Kaviar_AF=0.0043596;Kaviar_AC=674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000445310|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510012|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.903517;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 123524411 rs3851102 G A 100 PASS AC=32;AF=0.142173;AN=214;NS=2504;DP=18197;EAS_AF=0.127;AMR_AF=0.2406;AFR_AF=0.1399;EUR_AF=0.161;SAS_AF=0.0716;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.142173;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3851102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1395;ExAC_nontcga_ALL=0.1470;ExAC_nontcga_AFR=0.1377;ExAC_nontcga_AMR=0.2457;ExAC_nontcga_EAS=0.1714;ExAC_nontcga_FIN=0.1822;ExAC_nontcga_NFE=0.1413;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0786;AF=0.1462;AF_popmax=0.2335;AF_male=0.1451;AF_female=0.1477;AF_raw=0.1466;AF_afr=0.1363;AF_sas=.;AF_amr=0.2335;AF_eas=0.1639;AF_nfe=0.1371;AF_fin=0.1837;AF_asj=0.1034;AF_oth=0.1538;non_topmed_AF_popmax=0.2321;non_neuro_AF_popmax=0.2437;non_cancer_AF_popmax=.;controls_AF_popmax=0.2358;Kaviar_AF=0.143814;Kaviar_AC=22234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000445310|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510012|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.921114;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 +11 128781287 rs185412918 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19305;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C119T:p.T40M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185412918;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.577;Polyphen2_HVAR_pred=P;LRT_score=0.080;LRT_converted_rankscore=0.210;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.235;VEST3_rankscore=0.665;MetaSVM_score=0.521;MetaSVM_rankscore=0.908;MetaSVM_pred=D;MetaLR_score=0.761;MetaLR_rankscore=0.919;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.702;M-CAP_pred=D;REVEL_score=0.535;REVEL_rankscore=0.807;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.122;CADD_raw_rankscore=0.691;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.959;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.941;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.745;Eigen-PC-raw=0.759;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.79;GERP++_RS_rankscore=0.917;phyloP100way_vertebrate=7.568;phyloP100way_vertebrate_rankscore=0.814;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.925;phastCons20way_mammalian_rankscore=0.399;SiPhy_29way_logOdds=20.044;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920523;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781339 rs6590357 T C 100 PASS AC=188;AF=0.869808;AN=214;NS=2504;DP=20998;EAS_AF=0.877;AMR_AF=0.8026;AFR_AF=0.8918;EUR_AF=0.8499;SAS_AF=0.9008;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;1000g2015aug_all=0.869808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6590357;CLNALLELEID=141693;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8250;ExAC_nontcga_ALL=0.8439;ExAC_nontcga_AFR=0.8975;ExAC_nontcga_AMR=0.8055;ExAC_nontcga_EAS=0.8779;ExAC_nontcga_FIN=0.7900;ExAC_nontcga_NFE=0.8289;ExAC_nontcga_OTH=0.8353;ExAC_nontcga_SAS=0.8958;AF=0.8472;AF_popmax=0.9062;AF_male=0.8453;AF_female=0.8494;AF_raw=0.8468;AF_afr=0.9062;AF_sas=.;AF_amr=0.8172;AF_eas=0.8923;AF_nfe=0.8248;AF_fin=0.7949;AF_asj=0.8103;AF_oth=0.8263;non_topmed_AF_popmax=0.9066;non_neuro_AF_popmax=0.9073;non_cancer_AF_popmax=.;controls_AF_popmax=0.9075;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914987;ALLELE_END;VINYL_score=-1 GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128781441 rs146853795 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C273T:p.L91L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146853795;CLNALLELEID=326536;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0003;AF_popmax=0.0004;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911585;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781606 rs140697732 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21813;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C438T:p.T146T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140697732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.726e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.889317;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128781978 rs7118824 T G 100 PASS AC=188;AF=0.866214;AN=214;NS=2504;DP=21865;EAS_AF=0.876;AMR_AF=0.7997;AFR_AF=0.8805;EUR_AF=0.8479;SAS_AF=0.9029;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;1000g2015aug_all=0.866214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7118824;CLNALLELEID=141694;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8216;ExAC_nontcga_ALL=0.8417;ExAC_nontcga_AFR=0.8882;ExAC_nontcga_AMR=0.8043;ExAC_nontcga_EAS=0.8780;ExAC_nontcga_FIN=0.7893;ExAC_nontcga_NFE=0.8270;ExAC_nontcga_OTH=0.8314;ExAC_nontcga_SAS=0.8944;AF=0.8419;AF_popmax=0.8944;AF_male=0.8401;AF_female=0.8441;AF_raw=0.8413;AF_afr=0.8944;AF_sas=.;AF_amr=0.8160;AF_eas=0.8920;AF_nfe=0.8211;AF_fin=0.7948;AF_asj=0.8090;AF_oth=0.8231;non_topmed_AF_popmax=0.8952;non_neuro_AF_popmax=0.8944;non_cancer_AF_popmax=.;controls_AF_popmax=0.8980;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.275185;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918617;ALLELE_END;VINYL_score=0 GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128782002 rs7118833 T C 100 PASS AC=188;AF=0.867013;AN=214;NS=2504;DP=22091;EAS_AF=0.876;AMR_AF=0.8026;AFR_AF=0.882;EUR_AF=0.8479;SAS_AF=0.9029;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;1000g2015aug_all=0.867013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7118833;CLNALLELEID=141695;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8216;ExAC_nontcga_ALL=0.8419;ExAC_nontcga_AFR=0.8914;ExAC_nontcga_AMR=0.8044;ExAC_nontcga_EAS=0.8781;ExAC_nontcga_FIN=0.7895;ExAC_nontcga_NFE=0.8269;ExAC_nontcga_OTH=0.8314;ExAC_nontcga_SAS=0.8946;AF=0.8430;AF_popmax=0.8984;AF_male=0.8410;AF_female=0.8454;AF_raw=0.8421;AF_afr=0.8984;AF_sas=.;AF_amr=0.8191;AF_eas=0.8920;AF_nfe=0.8210;AF_fin=0.7948;AF_asj=0.8090;AF_oth=0.8226;non_topmed_AF_popmax=0.8989;non_neuro_AF_popmax=0.8991;non_cancer_AF_popmax=.;controls_AF_popmax=0.9;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.176471::-0.277257;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923949;ALLELE_END;VINYL_score=0 GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +11 128782012 rs7102584 C G 100 PASS AC=213;AF=0.995008;AN=214;NS=2504;DP=22366;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9977;EUR_AF=0.9841;SAS_AF=0.998;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;1000g2015aug_all=0.995008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7102584;CLNALLELEID=141696;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.229;MutationTaster_pred=P;MutationAssessor_score=-1.455;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_converted_rankscore=0.012;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.005;MetaSVM_score=-0.907;MetaSVM_rankscore=0.473;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.323;REVEL_rankscore=0.649;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.157;CADD_raw_rankscore=0.109;CADD_phred=4.219;DANN_score=0.396;DANN_rankscore=0.027;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.705;Eigen-PC-raw=-0.377;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=5.895;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=0.136;phyloP20way_mammalian_rankscore=0.221;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=16.452;SiPhy_29way_logOdds_rankscore=0.838;Interpro_domain=Immunoglobulin_E-set|Potassium_channel,_inwardly_rectifying,_Kir,_cytoplasmic;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9820;ExAC_nontcga_ALL=0.9868;ExAC_nontcga_AFR=0.9975;ExAC_nontcga_AMR=0.9977;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9761;ExAC_nontcga_NFE=0.9786;ExAC_nontcga_OTH=0.9899;ExAC_nontcga_SAS=0.9986;AF=0.9848;AF_popmax=1;AF_male=0.9861;AF_female=0.9832;AF_raw=0.9844;AF_afr=0.9986;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9777;AF_fin=0.9741;AF_asj=1;AF_oth=0.9769;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.837086;ALLELE_END;VINYL_score=0.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +11 128782112 rs45516097 C T 100 PASS AC=3;AF=0.076278;AN=214;NS=2504;DP=20539;EAS_AF=0.0863;AMR_AF=0.0432;AFR_AF=0.1891;EUR_AF=0.0089;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45516097;CLNALLELEID=141697;CLNDN=Long_QT_syndrome|Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.1793;ExAC_nontcga_AMR=0.0197;ExAC_nontcga_EAS=0.0827;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0060;AF=0.0610;AF_popmax=0.1780;AF_male=0.0631;AF_female=0.0583;AF_raw=0.0610;AF_afr=0.1780;AF_sas=.;AF_amr=0.0271;AF_eas=0.0982;AF_nfe=0.0079;AF_fin=0.0072;AF_asj=0.0276;AF_oth=0.0303;non_topmed_AF_popmax=0.1801;non_neuro_AF_popmax=0.1678;non_cancer_AF_popmax=.;controls_AF_popmax=0.1699;Kaviar_AF=0.0296827;Kaviar_AC=4589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000963232|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.830285;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +11 128786294 rs4937391 G A 100 PASS AC=179;AF=0.735823;AN=214;NS=2504;DP=22146;EAS_AF=0.6538;AMR_AF=0.6945;AFR_AF=0.7821;EUR_AF=0.7535;SAS_AF=0.7689;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.735823;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4937391;CLNALLELEID=141698;CLNDN=Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified;CLNDISDB=MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.7279;ExAC_nontcga_ALL=0.7339;ExAC_nontcga_AFR=0.7902;ExAC_nontcga_AMR=0.6977;ExAC_nontcga_EAS=0.6654;ExAC_nontcga_FIN=0.6839;ExAC_nontcga_NFE=0.7328;ExAC_nontcga_OTH=0.7406;ExAC_nontcga_SAS=0.7835;AF=0.7391;AF_popmax=0.7980;AF_male=0.7369;AF_female=0.7418;AF_raw=0.7383;AF_afr=0.7980;AF_sas=.;AF_amr=0.7069;AF_eas=0.6731;AF_nfe=0.7279;AF_fin=0.6881;AF_asj=0.7138;AF_oth=0.7157;non_topmed_AF_popmax=0.7987;non_neuro_AF_popmax=0.8002;non_cancer_AF_popmax=.;controls_AF_popmax=0.7997;Kaviar_AF=0.724635;Kaviar_AC=112030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 +12 2224511 rs34419050 C T 100 PASS AC=5;AF=0.0117812;AN=214;NS=2504;DP=13235;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.C171T:p.D57D,CACNA1C:NM_001129827:exon2:c.C171T:p.D57D,CACNA1C:NM_001129829:exon2:c.C171T:p.D57D,CACNA1C:NM_001129830:exon2:c.C171T:p.D57D,CACNA1C:NM_001129831:exon2:c.C171T:p.D57D,CACNA1C:NM_001129832:exon2:c.C171T:p.D57D,CACNA1C:NM_001129833:exon2:c.C171T:p.D57D,CACNA1C:NM_001129834:exon2:c.C171T:p.D57D,CACNA1C:NM_001129835:exon2:c.C171T:p.D57D,CACNA1C:NM_001129836:exon2:c.C171T:p.D57D,CACNA1C:NM_001129837:exon2:c.C171T:p.D57D,CACNA1C:NM_001129838:exon2:c.C171T:p.D57D,CACNA1C:NM_001129839:exon2:c.C171T:p.D57D,CACNA1C:NM_001129840:exon2:c.C171T:p.D57D,CACNA1C:NM_001129841:exon2:c.C171T:p.D57D,CACNA1C:NM_001129842:exon2:c.C171T:p.D57D,CACNA1C:NM_001129843:exon2:c.C171T:p.D57D,CACNA1C:NM_001129844:exon2:c.C171T:p.D57D,CACNA1C:NM_001129846:exon2:c.C171T:p.D57D,CACNA1C:NM_001167623:exon2:c.C171T:p.D57D,CACNA1C:NM_001167624:exon2:c.C171T:p.D57D,CACNA1C:NM_001167625:exon2:c.C171T:p.D57D,CACNA1C:NM_199460:exon2:c.C171T:p.D57D;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34419050;CLNALLELEID=44431;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0322;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.0142;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0156;ExAC_nontcga_NFE=0.0380;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0431;AF=0.0138;AF_popmax=0.0219;AF_male=0.0132;AF_female=0.0146;AF_raw=0.0138;AF_afr=0.0039;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0104;AF_asj=0.0174;AF_oth=0.0119;non_topmed_AF_popmax=0.0204;non_neuro_AF_popmax=0.0209;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0177165;Kaviar_AC=2739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.624601;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2224553 rs113869350 G A 100 PASS AC=1;AF=0.013778;AN=214;NS=2504;DP=14535;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0469;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.G213A:p.A71A,CACNA1C:NM_001129827:exon2:c.G213A:p.A71A,CACNA1C:NM_001129829:exon2:c.G213A:p.A71A,CACNA1C:NM_001129830:exon2:c.G213A:p.A71A,CACNA1C:NM_001129831:exon2:c.G213A:p.A71A,CACNA1C:NM_001129832:exon2:c.G213A:p.A71A,CACNA1C:NM_001129833:exon2:c.G213A:p.A71A,CACNA1C:NM_001129834:exon2:c.G213A:p.A71A,CACNA1C:NM_001129835:exon2:c.G213A:p.A71A,CACNA1C:NM_001129836:exon2:c.G213A:p.A71A,CACNA1C:NM_001129837:exon2:c.G213A:p.A71A,CACNA1C:NM_001129838:exon2:c.G213A:p.A71A,CACNA1C:NM_001129839:exon2:c.G213A:p.A71A,CACNA1C:NM_001129840:exon2:c.G213A:p.A71A,CACNA1C:NM_001129841:exon2:c.G213A:p.A71A,CACNA1C:NM_001129842:exon2:c.G213A:p.A71A,CACNA1C:NM_001129843:exon2:c.G213A:p.A71A,CACNA1C:NM_001129844:exon2:c.G213A:p.A71A,CACNA1C:NM_001129846:exon2:c.G213A:p.A71A,CACNA1C:NM_001167623:exon2:c.G213A:p.A71A,CACNA1C:NM_001167624:exon2:c.G213A:p.A71A,CACNA1C:NM_001167625:exon2:c.G213A:p.A71A,CACNA1C:NM_199460:exon2:c.G213A:p.A71A;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113869350;CLNALLELEID=241530;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0582;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0127;AF_popmax=0.0449;AF_male=0.0136;AF_female=0.0115;AF_raw=0.0127;AF_afr=0.0449;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0443;non_neuro_AF_popmax=0.0475;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.337287;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2229476 rs55792866 G A 100 PASS AC=6;AF=0.0253594;AN=214;NS=2504;DP=19172;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.0461;EUR_AF=0.0249;SAS_AF=0.0307;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55792866;CLNALLELEID=44432;CLNDN=Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0265;ExAC_nontcga_ALL=0.0253;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0124;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0265;ExAC_nontcga_OTH=0.0246;ExAC_nontcga_SAS=0.0363;AF=0.0265;AF_popmax=0.0491;AF_male=0.0268;AF_female=0.0261;AF_raw=0.0265;AF_afr=0.0491;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0104;AF_asj=0.0172;AF_oth=0.0138;non_topmed_AF_popmax=0.0483;non_neuro_AF_popmax=0.0517;non_cancer_AF_popmax=.;controls_AF_popmax=0.0495;Kaviar_AF=0.0250061;Kaviar_AC=3866;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.279141;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2558186 rs1544514 G A 100 PASS AC=54;AF=0.120407;AN=214;NS=2504;DP=17828;EAS_AF=0.0655;AMR_AF=0.147;AFR_AF=0.0756;EUR_AF=0.1928;SAS_AF=0.1442;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A;1000g2015aug_all=0.120407;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544514;CLNALLELEID=99319;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2146;ExAC_nontcga_ALL=0.2058;ExAC_nontcga_AFR=0.1073;ExAC_nontcga_AMR=0.2058;ExAC_nontcga_EAS=0.0842;ExAC_nontcga_FIN=0.1936;ExAC_nontcga_NFE=0.2520;ExAC_nontcga_OTH=0.2384;ExAC_nontcga_SAS=0.1691;AF=0.1685;AF_popmax=0.2137;AF_male=0.1660;AF_female=0.1718;AF_raw=0.1685;AF_afr=0.1002;AF_sas=.;AF_amr=0.1879;AF_eas=0.0546;AF_nfe=0.2137;AF_fin=0.1676;AF_asj=0.3241;AF_oth=0.1842;non_topmed_AF_popmax=0.2091;non_neuro_AF_popmax=0.2155;non_cancer_AF_popmax=.;controls_AF_popmax=0.2186;Kaviar_AF=0.171744;Kaviar_AC=26552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668478;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2558292 rs550267364 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550267364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2558298 rs1544515 G A 100 PASS AC=63;AF=0.260184;AN=214;NS=2504;DP=18820;EAS_AF=0.1746;AMR_AF=0.1873;AFR_AF=0.3298;EUR_AF=0.2396;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.260184;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544515;CLNALLELEID=99327;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2386;ExAC_nontcga_ALL=0.2935;ExAC_nontcga_AFR=0.3450;ExAC_nontcga_AMR=0.2402;ExAC_nontcga_EAS=0.1904;ExAC_nontcga_FIN=0.2543;ExAC_nontcga_NFE=0.2776;ExAC_nontcga_OTH=0.3021;ExAC_nontcga_SAS=0.3133;AF=0.2702;AF_popmax=0.3246;AF_male=0.2699;AF_female=0.2705;AF_raw=0.2715;AF_afr=0.3246;AF_sas=.;AF_amr=0.2241;AF_eas=0.1658;AF_nfe=0.2575;AF_fin=0.2461;AF_asj=0.3287;AF_oth=0.2625;non_topmed_AF_popmax=0.3256;non_neuro_AF_popmax=0.3289;non_cancer_AF_popmax=.;controls_AF_popmax=0.3218;Kaviar_AF=0.139623;Kaviar_AC=21586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2558300 rs1544516 T C 100 PASS AC=63;AF=0.26258;AN=214;NS=2504;DP=18806;EAS_AF=0.1746;AMR_AF=0.1873;AFR_AF=0.3366;EUR_AF=0.2396;SAS_AF=0.3303;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.26258;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1544516;CLNALLELEID=99328;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2332;ExAC_nontcga_ALL=0.2954;ExAC_nontcga_AFR=0.3496;ExAC_nontcga_AMR=0.2335;ExAC_nontcga_EAS=0.1941;ExAC_nontcga_FIN=0.2535;ExAC_nontcga_NFE=0.2776;ExAC_nontcga_OTH=0.3105;ExAC_nontcga_SAS=0.3163;AF=0.2713;AF_popmax=0.3288;AF_male=0.2713;AF_female=0.2713;AF_raw=0.2727;AF_afr=0.3288;AF_sas=.;AF_amr=0.2241;AF_eas=0.1658;AF_nfe=0.2574;AF_fin=0.2461;AF_asj=0.3287;AF_oth=0.2635;non_topmed_AF_popmax=0.3297;non_neuro_AF_popmax=0.3320;non_cancer_AF_popmax=.;controls_AF_popmax=0.3238;Kaviar_AF=0.140063;Kaviar_AC=21654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.895333;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 +12 2602288 rs145943642 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21145;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145943642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.583121;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2602307 rs56412831 C G 100 PASS AC=11;AF=0.0876597;AN=214;NS=2504;DP=20719;EAS_AF=0.002;AMR_AF=0.0533;AFR_AF=0.2398;EUR_AF=0.0417;SAS_AF=0.0419;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56412831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.1974;ExAC_nontcga_AMR=0.0264;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0526;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0319;AF=0.0852;AF_popmax=0.1984;AF_male=0.0871;AF_female=0.0827;AF_raw=0.0853;AF_afr=0.1984;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0489;AF_fin=0.0273;AF_asj=0.0690;AF_oth=0.0450;non_topmed_AF_popmax=0.1976;non_neuro_AF_popmax=0.1941;non_cancer_AF_popmax=.;controls_AF_popmax=0.1990;Kaviar_AF=0.052412;Kaviar_AC=8103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.577165;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56412831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.1974;ExAC_nontcga_AMR=0.0264;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0526;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0319;AF=0.0852;AF_popmax=0.1984;AF_male=0.0871;AF_female=0.0827;AF_raw=0.0853;AF_afr=0.1984;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0489;AF_fin=0.0273;AF_asj=0.0690;AF_oth=0.0450;non_topmed_AF_popmax=0.1976;non_neuro_AF_popmax=0.1941;non_cancer_AF_popmax=.;controls_AF_popmax=0.1990;Kaviar_AF=0.052412;Kaviar_AC=8103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.577165;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2613521 rs1008832 A G 100 PASS AC=96;AF=0.546326;AN=214;NS=2504;DP=18278;EAS_AF=0.5179;AMR_AF=0.4409;AFR_AF=0.8328;EUR_AF=0.3757;SAS_AF=0.4387;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.546326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1008832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4891;AF_popmax=0.7724;AF_male=0.4955;AF_female=0.4811;AF_raw=0.4895;AF_afr=0.7724;AF_sas=.;AF_amr=0.4169;AF_eas=0.5465;AF_nfe=0.3714;AF_fin=0.3300;AF_asj=0.4828;AF_oth=0.3736;non_topmed_AF_popmax=0.7727;non_neuro_AF_popmax=0.7726;non_cancer_AF_popmax=.;controls_AF_popmax=0.7753;Kaviar_AF=0.0817842;Kaviar_AC=12644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231293|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.410224;ALLELE_END;VINYL_score=2 GT 0|1 1|0 1|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 1|1 1|1 0|1 0|0 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|0 0|1 1|1 1|0 1|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 +12 2613716 rs2238087 C T 100 PASS AC=26;AF=0.0782748;AN=214;NS=2504;DP=21473;EAS_AF=0.1369;AMR_AF=0.0648;AFR_AF=0.0416;EUR_AF=0.0924;SAS_AF=0.0624;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2238087;CLNALLELEID=140317;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0868;ExAC_nontcga_ALL=0.0749;ExAC_nontcga_AFR=0.0456;ExAC_nontcga_AMR=0.0453;ExAC_nontcga_EAS=0.1387;ExAC_nontcga_FIN=0.0434;ExAC_nontcga_NFE=0.0806;ExAC_nontcga_OTH=0.0449;ExAC_nontcga_SAS=0.0749;AF=0.0633;AF_popmax=0.1485;AF_male=0.0635;AF_female=0.0630;AF_raw=0.0632;AF_afr=0.0405;AF_sas=.;AF_amr=0.0601;AF_eas=0.1485;AF_nfe=0.0718;AF_fin=0.0397;AF_asj=0.1241;AF_oth=0.0646;non_topmed_AF_popmax=0.1482;non_neuro_AF_popmax=0.1485;non_cancer_AF_popmax=.;controls_AF_popmax=0.1466;Kaviar_AF=0.0752836;Kaviar_AC=11639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.228769;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2614070 rs1051360 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129827:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129829:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129830:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129831:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129832:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129833:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129834:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129835:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129836:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129837:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129838:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129839:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129841:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129842:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129843:exon8:c.G1176T:p.G392G,CACNA1C:NM_001129844:exon8:c.G1167T:p.G389G,CACNA1C:NM_001129846:exon8:c.G1176T:p.G392G,CACNA1C:NM_199460:exon8:c.G1176T:p.G392G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1051360;CLNALLELEID=177533;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=6.742e-05;AF=0.0021;AF_popmax=0.0031;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0012;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805318;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2621912 rs2239098 G A 100 PASS AC=20;AF=0.0597045;AN=214;NS=2504;DP=18138;EAS_AF=0.1339;AMR_AF=0.0447;AFR_AF=0.0144;EUR_AF=0.0537;SAS_AF=0.0613;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0597045;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0384;AF_popmax=0.1433;AF_male=0.0385;AF_female=0.0382;AF_raw=0.0383;AF_afr=0.0115;AF_sas=.;AF_amr=0.0496;AF_eas=0.1433;AF_nfe=0.0448;AF_fin=0.0210;AF_asj=0.1103;AF_oth=0.0396;non_topmed_AF_popmax=0.1430;non_neuro_AF_popmax=0.1433;non_cancer_AF_popmax=.;controls_AF_popmax=0.1422;Kaviar_AF=0.0089456;Kaviar_AC=1383;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2622016 rs563266850 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17191;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129827:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129829:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129830:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129831:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129832:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129833:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129834:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129835:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129836:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129837:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129838:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129839:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129840:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129841:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129842:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129843:exon9:c.G1256C:p.G419A,CACNA1C:NM_001129844:exon9:c.G1247C:p.G416A,CACNA1C:NM_001129846:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167623:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167624:exon9:c.G1256C:p.G419A,CACNA1C:NM_001167625:exon9:c.G1256C:p.G419A,CACNA1C:NM_199460:exon9:c.G1256C:p.G419A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563266850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.853;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.85;MutationAssessor_score_rankscore=0.959;MutationAssessor_pred=H;FATHMM_score=-4.87;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-5.61;PROVEAN_converted_rankscore=0.872;PROVEAN_pred=D;VEST3_score=0.711;VEST3_rankscore=0.790;MetaSVM_score=1.076;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.974;MetaLR_rankscore=0.992;MetaLR_pred=D;M-CAP_score=0.894;M-CAP_rankscore=0.992;M-CAP_pred=D;REVEL_score=0.878;REVEL_rankscore=0.964;MutPred_score=0.333;MutPred_rankscore=0.321;CADD_raw=5.692;CADD_raw_rankscore=0.777;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.942;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.956;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.016;Eigen-PC-raw=0.920;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=9.994;phyloP100way_vertebrate_rankscore=0.993;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.129;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.021e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.952e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.619773;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2659082 rs11062272 G T 100 PASS AC=59;AF=0.294928;AN=214;NS=2504;DP=20309;EAS_AF=0.2202;AMR_AF=0.2939;AFR_AF=0.4546;EUR_AF=0.2266;SAS_AF=0.227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.294928;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11062272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2256;ExAC_nontcga_ALL=0.3241;ExAC_nontcga_AFR=0.4791;ExAC_nontcga_AMR=0.3901;ExAC_nontcga_EAS=0.3417;ExAC_nontcga_FIN=0.3470;ExAC_nontcga_NFE=0.3213;ExAC_nontcga_OTH=0.3101;ExAC_nontcga_SAS=0.2349;AF=0.2815;AF_popmax=0.4273;AF_male=0.2838;AF_female=0.2786;AF_raw=0.2820;AF_afr=0.4273;AF_sas=.;AF_amr=0.2323;AF_eas=0.2279;AF_nfe=0.2291;AF_fin=0.2083;AF_asj=0.2586;AF_oth=0.2145;non_topmed_AF_popmax=0.4276;non_neuro_AF_popmax=0.4264;non_cancer_AF_popmax=.;controls_AF_popmax=0.4258;Kaviar_AF=0.208788;Kaviar_AC=32279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.769595;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 +12 2666051 rs140192141 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140192141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2675802 rs2283325 G A 100 PASS AC=5;AF=0.0561102;AN=214;NS=2504;DP=15032;EAS_AF=0.1339;AMR_AF=0.1138;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0562;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0561102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2283325;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0164;AF_popmax=0.1244;AF_male=0.0172;AF_female=0.0154;AF_raw=0.0165;AF_afr=0.0034;AF_sas=.;AF_amr=0.0908;AF_eas=0.1244;AF_nfe=0.0117;AF_fin=0.0032;AF_asj=0.0207;AF_oth=0.0165;non_topmed_AF_popmax=0.1235;non_neuro_AF_popmax=0.1244;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0345781;Kaviar_AC=900;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501388|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.105736;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2676683 rs2370602 C T 100 PASS AC=166;AF=0.86222;AN=214;NS=2504;DP=20061;EAS_AF=0.995;AMR_AF=0.9006;AFR_AF=0.7489;EUR_AF=0.8499;SAS_AF=0.864;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.86222;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2370602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8291;AF_popmax=0.9904;AF_male=0.8317;AF_female=0.8258;AF_raw=0.8287;AF_afr=0.7635;AF_sas=.;AF_amr=0.8936;AF_eas=0.9904;AF_nfe=0.8408;AF_fin=0.8493;AF_asj=0.8034;AF_oth=0.8471;non_topmed_AF_popmax=0.9901;non_neuro_AF_popmax=0.9904;non_cancer_AF_popmax=.;controls_AF_popmax=0.9902;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501388|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.331030;ALLELE_END;VINYL_score=2 GT 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +12 2690702 rs11832738 G A 100 PASS AC=127;AF=0.586661;AN=214;NS=2504;DP=17591;EAS_AF=0.7252;AMR_AF=0.6427;AFR_AF=0.289;EUR_AF=0.7038;SAS_AF=0.6861;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.586661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11832738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6251;AF_popmax=0.7193;AF_male=0.6192;AF_female=0.6326;AF_raw=0.6245;AF_afr=0.3542;AF_sas=.;AF_amr=0.7151;AF_eas=0.7193;AF_nfe=0.7184;AF_fin=0.7999;AF_asj=0.5621;AF_oth=0.7269;non_topmed_AF_popmax=0.7238;non_neuro_AF_popmax=0.7193;non_cancer_AF_popmax=.;controls_AF_popmax=0.734;Kaviar_AF=0.118343;Kaviar_AC=18296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 0|1 0|1 1|1 0|0 1|1 0|0 0|1 1|0 0|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|0 1|0 1|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 1|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|0 1|1 1|1 0|1 0|1 +12 2692186 rs3751254 T G 100 PASS AC=153;AF=0.632588;AN=214;NS=2504;DP=7116;EAS_AF=0.744;AMR_AF=0.7248;AFR_AF=0.3389;EUR_AF=0.7744;SAS_AF=0.7035;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.632588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3751254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6752;AF_popmax=0.7738;AF_male=0.6726;AF_female=0.6783;AF_raw=0.6712;AF_afr=0.4240;AF_sas=.;AF_amr=0.7145;AF_eas=0.7255;AF_nfe=0.7738;AF_fin=0.8002;AF_asj=0.6154;AF_oth=0.7770;non_topmed_AF_popmax=0.7782;non_neuro_AF_popmax=0.7734;non_cancer_AF_popmax=.;controls_AF_popmax=0.7955;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000448446|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1180333|N/A|TFAP2C|PAZAR,OREG1837260|N/A|PRDM14|PAZAR,OREG1231295|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.994648;ALLELE_END;VINYL_score=3 GT 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|1 +12 2693848 rs545286577 G A 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=15759;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545286577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0010373;Kaviar_AC=27;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.799344;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2694470 rs11062281 G A 100 PASS AC=1;AF=0.0415335;AN=214;NS=2504;DP=19536;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.146;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0415335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11062281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0355;AF_popmax=0.1251;AF_male=0.0376;AF_female=0.0330;AF_raw=0.0356;AF_afr=0.1251;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.1257;non_neuro_AF_popmax=0.1231;non_cancer_AF_popmax=.;controls_AF_popmax=0.1227;Kaviar_AF=0.0122176;Kaviar_AC=318;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.765479;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2694638 rs215976 C T 100 PASS AC=25;AF=0.145567;AN=214;NS=2504;DP=14849;EAS_AF=0.2966;AMR_AF=0.0576;AFR_AF=0.0877;EUR_AF=0.0885;SAS_AF=0.1892;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129827:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129829:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129830:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129831:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129832:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129833:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129834:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129835:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129836:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129837:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129838:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129839:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129840:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129841:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129842:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129843:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129844:exon17:c.C2427T:p.D809D,CACNA1C:NM_001129846:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167623:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167624:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167625:exon17:c.C2436T:p.D812D,CACNA1C:NM_199460:exon17:c.C2436T:p.D812D;1000g2015aug_all=0.145567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs215976;CLNALLELEID=99305;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0786;ExAC_nontcga_ALL=0.1703;ExAC_nontcga_AFR=0.1183;ExAC_nontcga_AMR=0.1010;ExAC_nontcga_EAS=0.3473;ExAC_nontcga_FIN=0.1483;ExAC_nontcga_NFE=0.1356;ExAC_nontcga_OTH=0.1622;ExAC_nontcga_SAS=0.2096;AF=0.0913;AF_popmax=0.2918;AF_male=0.0919;AF_female=0.0906;AF_raw=0.0916;AF_afr=0.0789;AF_sas=.;AF_amr=0.0649;AF_eas=0.2918;AF_nfe=0.0772;AF_fin=0.1002;AF_asj=0.1310;AF_oth=0.0855;non_topmed_AF_popmax=0.2912;non_neuro_AF_popmax=0.2918;non_cancer_AF_popmax=.;controls_AF_popmax=0.3009;Kaviar_AF=0.0873727;Kaviar_AC=13508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.726858;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 2694651 rs112532048 C T 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=15691;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129827:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129829:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129830:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129831:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129832:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129833:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129834:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129835:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129836:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129837:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129838:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129839:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129840:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129841:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129842:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129843:exon17:c.C2449T:p.P817S,CACNA1C:NM_001129844:exon17:c.C2440T:p.P814S,CACNA1C:NM_001129846:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167623:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167624:exon17:c.C2449T:p.P817S,CACNA1C:NM_001167625:exon17:c.C2449T:p.P817S,CACNA1C:NM_199460:exon17:c.C2449T:p.P817S;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112532048;CLNALLELEID=99306;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.259;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.014;LRT_converted_rankscore=0.287;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.488;MutationTaster_pred=D;MutationAssessor_score=0.92;MutationAssessor_score_rankscore=0.235;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_converted_rankscore=0.958;FATHMM_pred=D;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.406;PROVEAN_pred=N;VEST3_score=0.239;VEST3_rankscore=0.293;MetaSVM_score=0.587;MetaSVM_rankscore=0.917;MetaSVM_pred=D;MetaLR_score=0.839;MetaLR_rankscore=0.946;MetaLR_pred=D;M-CAP_score=0.038;M-CAP_rankscore=0.582;M-CAP_pred=D;REVEL_score=0.341;REVEL_rankscore=0.667;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.997;CADD_raw_rankscore=0.672;CADD_phred=25.1;DANN_score=0.997;DANN_rankscore=0.829;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.909;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.294;Eigen-PC-raw=0.429;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=5.629;phyloP100way_vertebrate_rankscore=0.673;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=20.478;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0034;AF_popmax=0.0054;AF_male=0.0031;AF_female=0.0038;AF_raw=0.0034;AF_afr=0.0016;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0064;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.801019;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2695136 rs56291949 C T 100 PASS AC=2;AF=0.00638978;AN=214;NS=2504;DP=18414;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56291949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0189;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0227;AF_popmax=0.0206;AF_male=0.0216;AF_female=0.0240;AF_raw=0.0227;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0206;AF_fin=0.0930;AF_asj=0;AF_oth=0.0405;non_topmed_AF_popmax=0.0225;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0027167;Kaviar_AC=420;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.798291;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2706720 rs215983 G C 100 PASS AC=204;AF=0.951278;AN=214;NS=2504;DP=21251;EAS_AF=1;AMR_AF=0.9697;AFR_AF=0.8707;EUR_AF=0.9573;SAS_AF=0.9908;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.951278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs215983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9739;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9528;AF_popmax=1;AF_male=0.9520;AF_female=0.9537;AF_raw=0.9527;AF_afr=0.8850;AF_sas=.;AF_amr=0.9729;AF_eas=1;AF_nfe=0.9756;AF_fin=0.9879;AF_asj=0.9517;AF_oth=0.9761;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.186485;Kaviar_AC=28831;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.694135;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 2706781 rs148295373 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19844;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148295373;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.569e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.842218;ALLELE_END;VINYL_score=3 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2714835 rs186741807 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21244;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186741807;CLNALLELEID=177535;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0012;AF=0.0006;AF_popmax=0.0006;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501389|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.993995;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2715687 rs758560 A G 100 PASS AC=33;AF=0.0535144;AN=214;NS=2504;DP=23327;EAS_AF=0.005;AMR_AF=0.0706;AFR_AF=0.0159;EUR_AF=0.1173;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758560;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0747;AF_popmax=0.1081;AF_male=0.0721;AF_female=0.0780;AF_raw=0.0747;AF_afr=0.0281;AF_sas=.;AF_amr=0.0578;AF_eas=0.0058;AF_nfe=0.1081;AF_fin=0.0682;AF_asj=0.1103;AF_oth=0.0969;non_topmed_AF_popmax=0.1111;non_neuro_AF_popmax=0.1084;non_cancer_AF_popmax=.;controls_AF_popmax=0.1170;Kaviar_AF=0.0135703;Kaviar_AC=2098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.250824;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2715941 rs112353655 G A 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=21099;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0234;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112353655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0067;AF_popmax=0.0237;AF_male=0.0071;AF_female=0.0062;AF_raw=0.0068;AF_afr=0.0237;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0232;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0206;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.069674;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +12 2717661 rs201876309 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18410;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201876309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.748e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.811e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.787542;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2719934 rs55641425 C T 100 PASS AC=33;AF=0.052516;AN=214;NS=2504;DP=23122;EAS_AF=0.005;AMR_AF=0.0648;AFR_AF=0.0159;EUR_AF=0.1173;SAS_AF=0.0757;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.052516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55641425;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0745;AF_popmax=0.1079;AF_male=0.0718;AF_female=0.0780;AF_raw=0.0746;AF_afr=0.0281;AF_sas=.;AF_amr=0.0567;AF_eas=0.0058;AF_nfe=0.1079;AF_fin=0.0680;AF_asj=0.1103;AF_oth=0.0974;non_topmed_AF_popmax=0.1111;non_neuro_AF_popmax=0.1083;non_cancer_AF_popmax=.;controls_AF_popmax=0.1175;Kaviar_AF=0.0157242;Kaviar_AC=2431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2720988 rs216007 T C 100 PASS AC=60;AF=0.261781;AN=214;NS=2504;DP=18517;EAS_AF=0.3512;AMR_AF=0.2262;AFR_AF=0.2504;EUR_AF=0.2087;SAS_AF=0.2648;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.261781;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2080;AF_popmax=0.3669;AF_male=0.2084;AF_female=0.2076;AF_raw=0.2085;AF_afr=0.2356;AF_sas=.;AF_amr=0.1851;AF_eas=0.3669;AF_nfe=0.1898;AF_fin=0.1533;AF_asj=0.2690;AF_oth=0.1957;non_topmed_AF_popmax=0.3669;non_neuro_AF_popmax=0.3669;non_cancer_AF_popmax=.;controls_AF_popmax=0.3764;Kaviar_AF=0.0394756;Kaviar_AC=6103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +12 2721137 rs216008 C T 100 PASS AC=60;AF=0.259185;AN=214;NS=2504;DP=21995;EAS_AF=0.3512;AMR_AF=0.2262;AFR_AF=0.2413;EUR_AF=0.2087;SAS_AF=0.2638;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;1000g2015aug_all=0.259185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216008;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2105;ExAC_nontcga_AFR=0.2355;ExAC_nontcga_AMR=0.2128;ExAC_nontcga_EAS=0.3582;ExAC_nontcga_FIN=0.1621;ExAC_nontcga_NFE=0.1837;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.2337;AF=0.2077;AF_popmax=0.3700;AF_male=0.2078;AF_female=0.2075;AF_raw=0.2078;AF_afr=0.2338;AF_sas=.;AF_amr=0.1851;AF_eas=0.3700;AF_nfe=0.1903;AF_fin=0.1533;AF_asj=0.2483;AF_oth=0.1950;non_topmed_AF_popmax=0.3695;non_neuro_AF_popmax=0.3700;non_cancer_AF_popmax=.;controls_AF_popmax=0.3783;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.826561;ALLELE_END;VINYL_score=1 GT 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 +12 2743567 rs149125625 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16734;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149125625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.447e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.663284;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149125625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.447e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.663284;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2743650 rs572067452 A AT 100 PASS AC=48;AF=0.204273;AN=214;NS=2504;DP=18458;EAS_AF=0.2272;AMR_AF=0.1023;AFR_AF=0.2859;EUR_AF=0.173;SAS_AF=0.1748;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.204273;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397965444;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3119;AF_popmax=0.4158;AF_male=0.3093;AF_female=0.3155;AF_raw=0.1750;AF_afr=0.3780;AF_sas=.;AF_amr=0.2316;AF_eas=0.4158;AF_nfe=0.2752;AF_fin=0.1860;AF_asj=0.24;AF_oth=0.2614;non_topmed_AF_popmax=0.4154;non_neuro_AF_popmax=0.4158;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.0026126;Kaviar_AC=68;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.825804;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +12 2757756 rs2239127 T C 100 PASS AC=153;AF=0.666933;AN=214;NS=2504;DP=12311;EAS_AF=0.6766;AMR_AF=0.8588;AFR_AF=0.4455;EUR_AF=0.7903;SAS_AF=0.6933;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7187;AF_popmax=0.8361;AF_male=0.7128;AF_female=0.7260;AF_raw=0.7174;AF_afr=0.4900;AF_sas=.;AF_amr=0.8361;AF_eas=0.6339;AF_nfe=0.8153;AF_fin=0.8375;AF_asj=0.7793;AF_oth=0.7980;non_topmed_AF_popmax=0.8358;non_neuro_AF_popmax=0.8266;non_cancer_AF_popmax=.;controls_AF_popmax=0.8387;Kaviar_AF=0.659136;Kaviar_AC=17156;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.554267;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2757769 rs2239128 T C 100 PASS AC=154;AF=0.666534;AN=214;NS=2504;DP=12920;EAS_AF=0.6766;AMR_AF=0.8545;AFR_AF=0.4463;EUR_AF=0.7893;SAS_AF=0.6943;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.666534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239128;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7184;AF_popmax=0.8373;AF_male=0.7122;AF_female=0.7263;AF_raw=0.7182;AF_afr=0.4904;AF_sas=.;AF_amr=0.8373;AF_eas=0.6316;AF_nfe=0.8153;AF_fin=0.8374;AF_asj=0.7793;AF_oth=0.8002;non_topmed_AF_popmax=0.8387;non_neuro_AF_popmax=0.8285;non_cancer_AF_popmax=.;controls_AF_popmax=0.8392;Kaviar_AF=0.124015;Kaviar_AC=19173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534468;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2757782 rs2239129 C T 100 PASS AC=152;AF=0.652955;AN=214;NS=2504;DP=13528;EAS_AF=0.6746;AMR_AF=0.8516;AFR_AF=0.4085;EUR_AF=0.7773;SAS_AF=0.6922;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.652955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6997;AF_popmax=0.8365;AF_male=0.6941;AF_female=0.7068;AF_raw=0.6998;AF_afr=0.4581;AF_sas=.;AF_amr=0.8365;AF_eas=0.6297;AF_nfe=0.8011;AF_fin=0.8182;AF_asj=0.7743;AF_oth=0.7882;non_topmed_AF_popmax=0.8366;non_neuro_AF_popmax=0.8291;non_cancer_AF_popmax=.;controls_AF_popmax=0.8239;Kaviar_AF=0.141686;Kaviar_AC=21905;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.318145;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 +12 2760708 rs216045 G A 100 PASS AC=148;AF=0.670727;AN=214;NS=2504;DP=16334;EAS_AF=0.7123;AMR_AF=0.817;AFR_AF=0.3971;EUR_AF=0.7614;SAS_AF=0.8006;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.670727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs216045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7671;ExAC_nontcga_ALL=0.7541;ExAC_nontcga_AFR=0.4221;ExAC_nontcga_AMR=0.8774;ExAC_nontcga_EAS=0.7246;ExAC_nontcga_FIN=0.7856;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7971;ExAC_nontcga_SAS=0.8092;AF=0.6792;AF_popmax=0.8258;AF_male=0.6782;AF_female=0.6805;AF_raw=0.6788;AF_afr=0.4235;AF_sas=.;AF_amr=0.8258;AF_eas=0.6957;AF_nfe=0.7791;AF_fin=0.7989;AF_asj=0.7517;AF_oth=0.7692;non_topmed_AF_popmax=0.8243;non_neuro_AF_popmax=0.8127;non_cancer_AF_popmax=.;controls_AF_popmax=0.7853;Kaviar_AF=0.731414;Kaviar_AC=113078;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.468885;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 +12 2760898 rs56180838 C T 100 PASS AC=13;AF=0.023762;AN=214;NS=2504;DP=18107;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.003;EUR_AF=0.0825;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;1000g2015aug_all=0.023762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56180838;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0673;ExAC_nontcga_ALL=0.0478;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0259;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0867;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0173;AF=0.0484;AF_popmax=0.0682;AF_male=0.0464;AF_female=0.0509;AF_raw=0.0486;AF_afr=0.0097;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0682;AF_fin=0.0784;AF_asj=0.0552;AF_oth=0.0635;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0690;non_cancer_AF_popmax=.;controls_AF_popmax=0.0747;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830000;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;1000g2015aug_all=0.023762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56180838;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0673;ExAC_nontcga_ALL=0.0478;ExAC_nontcga_AFR=0.0119;ExAC_nontcga_AMR=0.0259;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0867;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0173;AF=0.0484;AF_popmax=0.0682;AF_male=0.0464;AF_female=0.0509;AF_raw=0.0486;AF_afr=0.0097;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0682;AF_fin=0.0784;AF_asj=0.0552;AF_oth=0.0635;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0690;non_cancer_AF_popmax=.;controls_AF_popmax=0.0747;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830000;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2760965 rs34428885 GA G 100 PASS AC=79;AF=0.382987;AN=214;NS=2504;DP=15910;EAS_AF=0.2817;AMR_AF=0.2277;AFR_AF=0.652;EUR_AF=0.2952;SAS_AF=0.3241;AA=A|AA|A|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34428885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2809;ExAC_nontcga_ALL=0.3012;ExAC_nontcga_AFR=0.5985;ExAC_nontcga_AMR=0.1626;ExAC_nontcga_EAS=0.2755;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.2519;ExAC_nontcga_SAS=0.3365;AF=0.3507;AF_popmax=0.6031;AF_male=0.3566;AF_female=0.3432;AF_raw=0.3519;AF_afr=0.6031;AF_sas=.;AF_amr=0.2168;AF_eas=0.2861;AF_nfe=0.2604;AF_fin=0.2079;AF_asj=0.3438;AF_oth=0.2675;non_topmed_AF_popmax=0.6023;non_neuro_AF_popmax=0.5946;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.382987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34428885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2809;ExAC_nontcga_ALL=0.3012;ExAC_nontcga_AFR=0.5985;ExAC_nontcga_AMR=0.1626;ExAC_nontcga_EAS=0.2755;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.2907;ExAC_nontcga_OTH=0.2519;ExAC_nontcga_SAS=0.3365;AF=0.3507;AF_popmax=0.6031;AF_male=0.3566;AF_female=0.3432;AF_raw=0.3519;AF_afr=0.6031;AF_sas=.;AF_amr=0.2168;AF_eas=0.2861;AF_nfe=0.2604;AF_fin=0.2079;AF_asj=0.3438;AF_oth=0.2675;non_topmed_AF_popmax=0.6023;non_neuro_AF_popmax=0.5946;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 1|1 1|1 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|0 +12 2760970 rs1990322 G A 100 PASS AC=132;AF=0.553914;AN=214;NS=2504;DP=15779;EAS_AF=0.7173;AMR_AF=0.7478;AFR_AF=0.1301;EUR_AF=0.7008;SAS_AF=0.6697;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1990322;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7204;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.2181;ExAC_nontcga_AMR=0.8376;ExAC_nontcga_EAS=0.7418;ExAC_nontcga_FIN=0.8007;ExAC_nontcga_NFE=0.7238;ExAC_nontcga_OTH=0.76;ExAC_nontcga_SAS=0.6768;AF=0.5918;AF_popmax=0.7708;AF_male=0.5853;AF_female=0.5999;AF_raw=0.5907;AF_afr=0.2010;AF_sas=.;AF_amr=0.7708;AF_eas=0.7153;AF_nfe=0.7353;AF_fin=0.7922;AF_asj=0.6517;AF_oth=0.7135;non_topmed_AF_popmax=0.7699;non_neuro_AF_popmax=0.7582;non_cancer_AF_popmax=.;controls_AF_popmax=0.7664;Kaviar_AF=0.652786;Kaviar_AC=100922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1990322;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7204;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.2181;ExAC_nontcga_AMR=0.8376;ExAC_nontcga_EAS=0.7418;ExAC_nontcga_FIN=0.8007;ExAC_nontcga_NFE=0.7238;ExAC_nontcga_OTH=0.76;ExAC_nontcga_SAS=0.6768;AF=0.5918;AF_popmax=0.7708;AF_male=0.5853;AF_female=0.5999;AF_raw=0.5907;AF_afr=0.2010;AF_sas=.;AF_amr=0.7708;AF_eas=0.7153;AF_nfe=0.7353;AF_fin=0.7922;AF_asj=0.6517;AF_oth=0.7135;non_topmed_AF_popmax=0.7699;non_neuro_AF_popmax=0.7582;non_cancer_AF_popmax=.;controls_AF_popmax=0.7664;Kaviar_AF=0.652786;Kaviar_AC=100922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 +12 2763143 rs114714957 G T 100 PASS AC=3;AF=0.0119808;AN=214;NS=2504;DP=18933;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0333;EUR_AF=0.005;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114714957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0094;AF_popmax=0.0289;AF_male=0.0094;AF_female=0.0094;AF_raw=0.0095;AF_afr=0.0289;AF_sas=.;AF_amr=0.0071;AF_eas=0.0006;AF_nfe=0.0022;AF_fin=0;AF_asj=0.0035;AF_oth=0.0018;non_topmed_AF_popmax=0.0287;non_neuro_AF_popmax=0.0287;non_cancer_AF_popmax=.;controls_AF_popmax=0.0312;Kaviar_AF=0.0009185;Kaviar_AC=142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.979367;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2774833 rs41276710 T C 100 PASS AC=3;AF=0.0385383;AN=214;NS=2504;DP=20770;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.1293;EUR_AF=0.005;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129838:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001129839:exon35:c.T4446C:p.D1482D,CACNA1C:NM_001129846:exon35:c.T4452C:p.D1484D,CACNA1C:NM_001167625:exon35:c.T4452C:p.D1484D,CACNA1C:NM_000719:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129829:exon36:c.T4551C:p.D1517D,CACNA1C:NM_001129830:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129833:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129834:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129835:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129836:exon36:c.T4536C:p.D1512D,CACNA1C:NM_001129840:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129841:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129842:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129843:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129844:exon36:c.T4476C:p.D1492D,CACNA1C:NM_001167623:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001167624:exon36:c.T4485C:p.D1495D,CACNA1C:NM_001129831:exon37:c.T4569C:p.D1523D,CACNA1C:NM_001129832:exon37:c.T4545C:p.D1515D,CACNA1C:NM_001129827:exon38:c.T4629C:p.D1543D,CACNA1C:NM_199460:exon38:c.T4629C:p.D1543D;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41276710;CLNALLELEID=99314;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.1347;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0082;AF=0.0373;AF_popmax=0.1267;AF_male=0.0373;AF_female=0.0373;AF_raw=0.0373;AF_afr=0.1267;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0030;AF_fin=0;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.1270;non_neuro_AF_popmax=0.1307;non_cancer_AF_popmax=.;controls_AF_popmax=0.1319;Kaviar_AF=0.0139067;Kaviar_AC=2150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.828309;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778044 rs189712469 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20085;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189712469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778061 rs58893912 C G 100 PASS AC=1;AF=0.0738818;AN=214;NS=2504;DP=21326;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.2632;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58893912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0222;ExAC_nontcga_AFR=0.2503;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0681;AF_popmax=0.2411;AF_male=0.0702;AF_female=0.0655;AF_raw=0.0682;AF_afr=0.2411;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.2417;non_neuro_AF_popmax=0.2467;non_cancer_AF_popmax=.;controls_AF_popmax=0.2510;Kaviar_AF=0.0217591;Kaviar_AC=3364;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2778272 rs3834937 G GC 100 PASS AC=11;AF=0.104633;AN=214;NS=2504;DP=18094;EAS_AF=0.131;AMR_AF=0.1585;AFR_AF=0.1619;EUR_AF=0.0437;SAS_AF=0.0245;AA=CC|CC|CCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.104633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35749666;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0813;AF_popmax=0.1702;AF_male=0.0814;AF_female=0.0812;AF_raw=0.0816;AF_afr=0.1702;AF_sas=.;AF_amr=0.1374;AF_eas=0.1091;AF_nfe=0.0394;AF_fin=0.0291;AF_asj=0.0310;AF_oth=0.0617;non_topmed_AF_popmax=0.1704;non_neuro_AF_popmax=0.1730;non_cancer_AF_popmax=.;controls_AF_popmax=0.1750;Kaviar_AF=0.0134855;Kaviar_AC=351;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2786193 rs538728204 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16405;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538728204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.193e-05;AF_popmax=6.495e-05;AF_male=5.739e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.495e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.047e-05;non_neuro_AF_popmax=7.361e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2787058 rs2302731 C T 100 PASS AC=9;AF=0.0802716;AN=214;NS=2504;DP=18590;EAS_AF=0.128;AMR_AF=0.1427;AFR_AF=0.0885;EUR_AF=0.0398;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0802716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0346;ExAC_nontcga_ALL=0.0563;ExAC_nontcga_AFR=0.0829;ExAC_nontcga_AMR=0.1459;ExAC_nontcga_EAS=0.1175;ExAC_nontcga_FIN=0.0377;ExAC_nontcga_NFE=0.0345;ExAC_nontcga_OTH=0.0407;ExAC_nontcga_SAS=0.0323;AF=0.0555;AF_popmax=0.1324;AF_male=0.0551;AF_female=0.0559;AF_raw=0.0556;AF_afr=0.0867;AF_sas=.;AF_amr=0.1324;AF_eas=0.1049;AF_nfe=0.0356;AF_fin=0.0285;AF_asj=0.0241;AF_oth=0.0516;non_topmed_AF_popmax=0.1346;non_neuro_AF_popmax=0.1286;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.0538738;Kaviar_AC=8329;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2788615 rs113595214 C T 100 PASS AC=3;AF=0.00299521;AN=214;NS=2504;DP=16763;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129838:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129839:exon41:c.C5115T:p.A1705A,CACNA1C:NM_001129846:exon41:c.C5064T:p.A1688A,CACNA1C:NM_001167625:exon41:c.C5064T:p.A1688A,CACNA1C:NM_000719:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129829:exon42:c.C5220T:p.A1740A,CACNA1C:NM_001129830:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129833:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129834:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129835:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129836:exon42:c.C5148T:p.A1716A,CACNA1C:NM_001129840:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129841:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129842:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129843:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129844:exon42:c.C5088T:p.A1696A,CACNA1C:NM_001167623:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001167624:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129831:exon43:c.C5181T:p.A1727A,CACNA1C:NM_001129832:exon43:c.C5157T:p.A1719A,CACNA1C:NM_001129827:exon44:c.C5241T:p.A1747A,CACNA1C:NM_199460:exon44:c.C5241T:p.A1747A;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113595214;CLNALLELEID=99316;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0243;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0651;ExAC_nontcga_NFE=0.0297;ExAC_nontcga_OTH=0.0658;ExAC_nontcga_SAS=0.0062;AF=0.0092;AF_popmax=0.0135;AF_male=0.0086;AF_female=0.0101;AF_raw=0.0094;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0155;AF_asj=0.0034;AF_oth=0.0147;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.0056403;Kaviar_AC=872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.792239;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788637 rs147896322 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129838:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129839:exon41:c.G5137A:p.V1713I,CACNA1C:NM_001129846:exon41:c.G5086A:p.V1696I,CACNA1C:NM_001167625:exon41:c.G5086A:p.V1696I,CACNA1C:NM_000719:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129829:exon42:c.G5242A:p.V1748I,CACNA1C:NM_001129830:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129833:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129834:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129835:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129836:exon42:c.G5170A:p.V1724I,CACNA1C:NM_001129840:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129841:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129842:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129843:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129844:exon42:c.G5110A:p.V1704I,CACNA1C:NM_001167623:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001167624:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129831:exon43:c.G5203A:p.V1735I,CACNA1C:NM_001129832:exon43:c.G5179A:p.V1727I,CACNA1C:NM_001129827:exon44:c.G5263A:p.V1755I,CACNA1C:NM_199460:exon44:c.G5263A:p.V1755I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147896322;CLNALLELEID=188609;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.152;SIFT_converted_rankscore=0.252;SIFT_pred=T;Polyphen2_HDIV_score=0.591;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.126;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.32;MutationAssessor_score_rankscore=0.666;MutationAssessor_pred=M;FATHMM_score=-3.92;FATHMM_converted_rankscore=0.963;FATHMM_pred=D;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.176;PROVEAN_pred=N;VEST3_score=0.407;VEST3_rankscore=0.543;MetaSVM_score=0.500;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.935;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.173;M-CAP_rankscore=0.851;M-CAP_pred=D;REVEL_score=0.502;REVEL_rankscore=0.787;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.307;CADD_raw_rankscore=0.577;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.928;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.505;Eigen-PC-raw=0.513;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.4;GERP++_RS_rankscore=0.522;phyloP100way_vertebrate=9.301;phyloP100way_vertebrate_rankscore=0.952;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=17.178;SiPhy_29way_logOdds_rankscore=0.867;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=0.0002;AF_popmax=0.0012;AF_male=0.0003;AF_female=7.185e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.762694;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788732 rs199538058 C A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=16621;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129838:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129839:exon41:c.C5232A:p.G1744G,CACNA1C:NM_001129846:exon41:c.C5181A:p.G1727G,CACNA1C:NM_001167625:exon41:c.C5181A:p.G1727G,CACNA1C:NM_000719:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129829:exon42:c.C5337A:p.G1779G,CACNA1C:NM_001129830:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129833:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129834:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129835:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129836:exon42:c.C5265A:p.G1755G,CACNA1C:NM_001129840:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129841:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129842:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129843:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129844:exon42:c.C5205A:p.G1735G,CACNA1C:NM_001167623:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001167624:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129831:exon43:c.C5298A:p.G1766G,CACNA1C:NM_001129832:exon43:c.C5274A:p.G1758G,CACNA1C:NM_001129827:exon44:c.C5358A:p.G1786G,CACNA1C:NM_199460:exon44:c.C5358A:p.G1786G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199538058;CLNALLELEID=140335;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0002;AF=0.0011;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0138;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012548;Kaviar_AC=194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694112;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788810 rs72552065 C T 100 PASS AC=11;AF=0.019369;AN=214;NS=2504;DP=16794;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0023;EUR_AF=0.0577;SAS_AF=0.0072;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72552065;CLNALLELEID=140336;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0613;ExAC_nontcga_ALL=0.0439;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0225;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0507;ExAC_nontcga_NFE=0.0681;ExAC_nontcga_OTH=0.0443;ExAC_nontcga_SAS=0.0134;AF=0.0445;AF_popmax=0.0678;AF_male=0.0445;AF_female=0.0445;AF_raw=0.0446;AF_afr=0.0105;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0678;AF_fin=0.0467;AF_asj=0.0690;AF_oth=0.0534;non_topmed_AF_popmax=0.0664;non_neuro_AF_popmax=0.0674;non_cancer_AF_popmax=.;controls_AF_popmax=0.0644;Kaviar_AF=0.044579;Kaviar_AC=6892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.722031;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2788879 rs1051375 G A 100 PASS AC=137;AF=0.526358;AN=214;NS=2504;DP=17117;EAS_AF=0.6062;AMR_AF=0.6542;AFR_AF=0.1717;EUR_AF=0.7038;SAS_AF=0.6503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;1000g2015aug_all=0.526358;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1051375;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7295;ExAC_nontcga_ALL=0.6964;ExAC_nontcga_AFR=0.2802;ExAC_nontcga_AMR=0.7427;ExAC_nontcga_EAS=0.6602;ExAC_nontcga_FIN=0.7857;ExAC_nontcga_NFE=0.7357;ExAC_nontcga_OTH=0.7202;ExAC_nontcga_SAS=0.6798;AF=0.5931;AF_popmax=0.7400;AF_male=0.5876;AF_female=0.5999;AF_raw=0.5928;AF_afr=0.2298;AF_sas=.;AF_amr=0.6828;AF_eas=0.6197;AF_nfe=0.7400;AF_fin=0.7745;AF_asj=0.6759;AF_oth=0.7069;non_topmed_AF_popmax=0.7456;non_neuro_AF_popmax=0.7413;non_cancer_AF_popmax=.;controls_AF_popmax=0.7630;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.549075;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|1 1|0 0|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 +12 2788925 rs113157354 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5431A:p.R1811R,CACNA1C:NM_001129838:exon41:c.C5431A:p.R1811R,CACNA1C:NM_001129839:exon41:c.C5425A:p.R1809R,CACNA1C:NM_001129846:exon41:c.C5374A:p.R1792R,CACNA1C:NM_001167625:exon41:c.C5374A:p.R1792R,CACNA1C:NM_000719:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129829:exon42:c.C5530A:p.R1844R,CACNA1C:NM_001129830:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129833:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129834:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129835:exon42:c.C5464A:p.R1822R,CACNA1C:NM_001129836:exon42:c.C5458A:p.R1820R,CACNA1C:NM_001129840:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129841:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129842:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129843:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129844:exon42:c.C5398A:p.R1800R,CACNA1C:NM_001167623:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001167624:exon42:c.C5407A:p.R1803R,CACNA1C:NM_001129831:exon43:c.C5491A:p.R1831R,CACNA1C:NM_001129832:exon43:c.C5467A:p.R1823R,CACNA1C:NM_001129827:exon44:c.C5551A:p.R1851R,CACNA1C:NM_199460:exon44:c.C5551A:p.R1851R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113157354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.777e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.595e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.646159;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2789787 rs12299577 A G 100 PASS AC=13;AF=0.189097;AN=214;NS=2504;DP=16860;EAS_AF=0.1617;AMR_AF=0.1859;AFR_AF=0.4365;EUR_AF=0.0517;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12299577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0338;ExAC_nontcga_ALL=0.0777;ExAC_nontcga_AFR=0.3585;ExAC_nontcga_AMR=0.175;ExAC_nontcga_EAS=0.1844;ExAC_nontcga_FIN=0.0550;ExAC_nontcga_NFE=0.0449;ExAC_nontcga_OTH=0.0431;ExAC_nontcga_SAS=0.0475;AF=0.1432;AF_popmax=0.3766;AF_male=0.1470;AF_female=0.1385;AF_raw=0.1445;AF_afr=0.3766;AF_sas=.;AF_amr=0.1733;AF_eas=0.1332;AF_nfe=0.0439;AF_fin=0.0302;AF_asj=0.0414;AF_oth=0.0763;non_topmed_AF_popmax=0.3765;non_neuro_AF_popmax=0.3800;non_cancer_AF_popmax=.;controls_AF_popmax=0.3786;Kaviar_AF=0.0354717;Kaviar_AC=5484;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2789789 rs12319450 C G 100 PASS AC=13;AF=0.189097;AN=214;NS=2504;DP=16872;EAS_AF=0.1617;AMR_AF=0.1859;AFR_AF=0.4365;EUR_AF=0.0517;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12319450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0340;ExAC_nontcga_ALL=0.0796;ExAC_nontcga_AFR=0.3616;ExAC_nontcga_AMR=0.1728;ExAC_nontcga_EAS=0.1835;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0466;ExAC_nontcga_OTH=0.0431;ExAC_nontcga_SAS=0.0484;AF=0.1433;AF_popmax=0.3766;AF_male=0.1470;AF_female=0.1386;AF_raw=0.1445;AF_afr=0.3766;AF_sas=.;AF_amr=0.1733;AF_eas=0.1332;AF_nfe=0.0439;AF_fin=0.0302;AF_asj=0.0414;AF_oth=0.0763;non_topmed_AF_popmax=0.3764;non_neuro_AF_popmax=0.3800;non_cancer_AF_popmax=.;controls_AF_popmax=0.3786;Kaviar_AF=0.0354394;Kaviar_AC=5479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 2791130 rs10848683 C T 100 PASS AC=170;AF=0.669129;AN=214;NS=2504;DP=21231;EAS_AF=0.5744;AMR_AF=0.7248;AFR_AF=0.4622;EUR_AF=0.8191;SAS_AF=0.8528;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.C5459T:p.P1820L,CACNA1C:NM_001167624:exon43:c.C5459T:p.P1820L,CACNA1C:NM_199460:exon45:c.C5603T:p.P1868L;1000g2015aug_all=0.669129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10848683;CLNALLELEID=140341;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.243;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-3.54;FATHMM_converted_rankscore=0.951;FATHMM_pred=D;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.032;VEST3_rankscore=0.022;MetaSVM_score=-0.945;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.086;CADD_raw_rankscore=0.102;CADD_phred=3.459;DANN_score=0.538;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.002;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.121;Eigen-PC-raw=-1.211;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.323;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.64;GERP++_RS_rankscore=0.228;phyloP100way_vertebrate=-1.473;phyloP100way_vertebrate_rankscore=0.024;phyloP20way_mammalian=-0.566;phyloP20way_mammalian_rankscore=0.046;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.422;SiPhy_29way_logOdds_rankscore=0.041;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8213;ExAC_nontcga_ALL=0.7714;ExAC_nontcga_AFR=0.4837;ExAC_nontcga_AMR=0.7754;ExAC_nontcga_EAS=0.5925;ExAC_nontcga_FIN=0.8493;ExAC_nontcga_NFE=0.8096;ExAC_nontcga_OTH=0.8217;ExAC_nontcga_SAS=0.8421;AF=0.7182;AF_popmax=0.8197;AF_male=0.7143;AF_female=0.7230;AF_raw=0.7175;AF_afr=0.4868;AF_sas=.;AF_amr=0.7382;AF_eas=0.5885;AF_nfe=0.8197;AF_fin=0.8636;AF_asj=0.8310;AF_oth=0.8022;non_topmed_AF_popmax=0.8178;non_neuro_AF_popmax=0.8206;non_cancer_AF_popmax=.;controls_AF_popmax=0.8225;Kaviar_AF=0.726103;Kaviar_AC=112257;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.816671;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 +12 2791132 rs10774053 A G 100 PASS AC=174;AF=0.770567;AN=214;NS=2504;DP=21122;EAS_AF=0.6081;AMR_AF=0.7651;AFR_AF=0.7844;EUR_AF=0.83;SAS_AF=0.862;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5461G:p.M1821V,CACNA1C:NM_001167624:exon43:c.A5461G:p.M1821V,CACNA1C:NM_199460:exon45:c.A5605G:p.M1869V;1000g2015aug_all=0.770567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10774053;CLNALLELEID=140342;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.564;SIFT_converted_rankscore=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.755;MutationAssessor_score_rankscore=0.192;MutationAssessor_pred=N;FATHMM_score=-3.57;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.052;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.001;MetaSVM_score=-0.971;MetaSVM_rankscore=0.371;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.237;REVEL_rankscore=0.545;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.106;CADD_raw_rankscore=0.104;CADD_phred=3.674;DANN_score=0.403;DANN_rankscore=0.028;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.002;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.642;Eigen-PC-raw=-1.618;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.316;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=0.908;GERP++_RS_rankscore=0.184;phyloP100way_vertebrate=-0.521;phyloP100way_vertebrate_rankscore=0.063;phyloP20way_mammalian=-0.616;phyloP20way_mammalian_rankscore=0.043;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.480;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=ENSG00000227081.4;GTEx_V6p_tissue=Esophagus_Muscularis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8310;ExAC_nontcga_ALL=0.8060;ExAC_nontcga_AFR=0.7837;ExAC_nontcga_AMR=0.7937;ExAC_nontcga_EAS=0.6208;ExAC_nontcga_FIN=0.8511;ExAC_nontcga_NFE=0.8186;ExAC_nontcga_OTH=0.8478;ExAC_nontcga_SAS=0.8530;AF=0.8033;AF_popmax=0.8267;AF_male=0.8041;AF_female=0.8023;AF_raw=0.8029;AF_afr=0.7684;AF_sas=.;AF_amr=0.7783;AF_eas=0.6184;AF_nfe=0.8267;AF_fin=0.8648;AF_asj=0.8448;AF_oth=0.8256;non_topmed_AF_popmax=0.8244;non_neuro_AF_popmax=0.8273;non_cancer_AF_popmax=.;controls_AF_popmax=0.8276;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.793459;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 +12 2791205 rs10774054 A G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=21405;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10774054;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9999;ExAC_nontcga_AFR=0.9987;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9996;AF_popmax=1;AF_male=0.9997;AF_female=0.9994;AF_raw=0.9996;AF_afr=0.9984;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.807959;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 2791722 rs113239186 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129838:exon42:c.C5475T:p.H1825H,CACNA1C:NM_001129839:exon42:c.C5469T:p.H1823H,CACNA1C:NM_001129846:exon42:c.C5418T:p.H1806H,CACNA1C:NM_000719:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129829:exon43:c.C5574T:p.H1858H,CACNA1C:NM_001129833:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129834:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129835:exon43:c.C5508T:p.H1836H,CACNA1C:NM_001129836:exon43:c.C5502T:p.H1834H,CACNA1C:NM_001129840:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129841:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129842:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129843:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001129844:exon43:c.C5442T:p.H1814H,CACNA1C:NM_001167623:exon43:c.C5451T:p.H1817H,CACNA1C:NM_001167625:exon43:c.C5631T:p.H1877H,CACNA1C:NM_001129830:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129831:exon44:c.C5535T:p.H1845H,CACNA1C:NM_001129832:exon44:c.C5511T:p.H1837H,CACNA1C:NM_001167624:exon44:c.C5556T:p.H1852H,CACNA1C:NM_001129827:exon45:c.C5595T:p.H1865H,CACNA1C:NM_199460:exon46:c.C5700T:p.H1900H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113239186;CLNALLELEID=99321;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0006;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1928344|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.719640;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2794977 rs56270948 G A 100 PASS AC=4;AF=0.0359425;AN=214;NS=2504;DP=20996;EAS_AF=0.0446;AMR_AF=0.0317;AFR_AF=0.0575;EUR_AF=0.0249;SAS_AF=0.0123;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129838:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129839:exon43:c.G5667A:p.P1889P,CACNA1C:NM_001129846:exon43:c.G5616A:p.P1872P,CACNA1C:NM_000719:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129829:exon44:c.G5772A:p.P1924P,CACNA1C:NM_001129833:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129834:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129835:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129836:exon44:c.G5700A:p.P1900P,CACNA1C:NM_001129840:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129841:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129842:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129843:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129844:exon44:c.G5640A:p.P1880P,CACNA1C:NM_001167623:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001167625:exon44:c.G5829A:p.P1943P,CACNA1C:NM_001129830:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129831:exon45:c.G5733A:p.P1911P,CACNA1C:NM_001129832:exon45:c.G5709A:p.P1903P,CACNA1C:NM_001167624:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129827:exon46:c.G5793A:p.P1931P,CACNA1C:NM_199460:exon47:c.G5898A:p.P1966P;1000g2015aug_all=0.0359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56270948;CLNALLELEID=99323;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0563;ExAC_nontcga_AMR=0.0104;ExAC_nontcga_EAS=0.0401;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0211;ExAC_nontcga_SAS=0.0072;AF=0.0180;AF_popmax=0.0394;AF_male=0.0179;AF_female=0.0182;AF_raw=0.0207;AF_afr=0.0094;AF_sas=.;AF_amr=0.0119;AF_eas=0.0394;AF_nfe=0.0202;AF_fin=0.0214;AF_asj=0.0315;AF_oth=0.0132;non_topmed_AF_popmax=0.0390;non_neuro_AF_popmax=0.0394;non_cancer_AF_popmax=.;controls_AF_popmax=0.0385;Kaviar_AF=0.0253748;Kaviar_AC=3923;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578635;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2795023 rs114036394 C T 100 PASS AC=1;AF=0.0159744;AN=214;NS=2504;DP=24249;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0582;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114036394;CLNALLELEID=44433;CLNDN=Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0595;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.813e-05;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0002;AF=0.0154;AF_popmax=0.0546;AF_male=0.0153;AF_female=0.0154;AF_raw=0.0155;AF_afr=0.0546;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0550;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.0045213;Kaviar_AC=699;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.196180;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2795255 rs2270373 C T 100 PASS AC=199;AF=0.770767;AN=214;NS=2504;DP=19682;EAS_AF=0.8363;AMR_AF=0.7997;AFR_AF=0.4251;EUR_AF=0.9473;SAS_AF=0.9683;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.770767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270373;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8153;AF_popmax=0.9554;AF_male=0.8111;AF_female=0.8205;AF_raw=0.8146;AF_afr=0.4791;AF_sas=.;AF_amr=0.8243;AF_eas=0.8631;AF_nfe=0.9554;AF_fin=0.9697;AF_asj=0.9621;AF_oth=0.9114;non_topmed_AF_popmax=0.9570;non_neuro_AF_popmax=0.9563;non_cancer_AF_popmax=.;controls_AF_popmax=0.9628;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.652066;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 +12 2797824 rs532551057 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14207;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon45:c.C6020T:p.T2007I,CACNA1C:NM_001129838:exon45:c.C6020T:p.T2007I,CACNA1C:NM_001129839:exon45:c.C6014T:p.T2005I,CACNA1C:NM_001129846:exon45:c.C5963T:p.T1988I,CACNA1C:NM_000719:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129829:exon46:c.C6119T:p.T2040I,CACNA1C:NM_001129833:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129834:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129835:exon46:c.C6053T:p.T2018I,CACNA1C:NM_001129836:exon46:c.C6047T:p.T2016I,CACNA1C:NM_001129840:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129841:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129842:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129843:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001129844:exon46:c.C5987T:p.T1996I,CACNA1C:NM_001167623:exon46:c.C5996T:p.T1999I,CACNA1C:NM_001167625:exon46:c.C6176T:p.T2059I,CACNA1C:NM_001129830:exon47:c.C6101T:p.T2034I,CACNA1C:NM_001129831:exon47:c.C6080T:p.T2027I,CACNA1C:NM_001129832:exon47:c.C6056T:p.T2019I,CACNA1C:NM_001167624:exon47:c.C6101T:p.T2034I,CACNA1C:NM_001129827:exon48:c.C6140T:p.T2047I,CACNA1C:NM_199460:exon49:c.C6245T:p.T2082I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532551057;CLNALLELEID=241543;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.08;SIFT_converted_rankscore=0.351;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.308;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.347;Polyphen2_HVAR_pred=B;LRT_score=0.573;LRT_converted_rankscore=0.112;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.128;VEST3_rankscore=0.198;MetaSVM_score=-0.988;MetaSVM_rankscore=0.332;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_rankscore=0.399;MetaLR_pred=T;M-CAP_score=0.100;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.065;REVEL_rankscore=0.193;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.108;CADD_raw_rankscore=0.104;CADD_phred=3.690;DANN_score=0.973;DANN_rankscore=0.326;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.081;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.927;Eigen-PC-raw=-0.933;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.17;GERP++_RS_rankscore=0.266;phyloP100way_vertebrate=0.348;phyloP100way_vertebrate_rankscore=0.196;phyloP20way_mammalian=-0.034;phyloP20way_mammalian_rankscore=0.126;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=14.291;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.868e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.644e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.124e-05;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.042e-05;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.294279;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 2798006 rs567697833 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567697833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0009;AF_raw=0.0007;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0013831;Kaviar_AC=36;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5153694 rs45504599 C T 100 PASS AC=5;AF=0.0147764;AN=214;NS=2504;DP=15255;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0038;EUR_AF=0.0398;SAS_AF=0.0102;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C381T:p.S127S;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45504599;CLNALLELEID=325381;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.0252;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0123;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0288;ExAC_nontcga_NFE=0.0376;ExAC_nontcga_OTH=0.0253;ExAC_nontcga_SAS=0.0128;AF=0.0272;AF_popmax=0.0416;AF_male=0.0274;AF_female=0.0268;AF_raw=0.0272;AF_afr=0.0079;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0416;AF_fin=0.0268;AF_asj=0.0139;AF_oth=0.0285;non_topmed_AF_popmax=0.0401;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0391;Kaviar_AF=0.0275029;Kaviar_AC=4252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.913473;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5153820 rs147984046 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14336;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G507T:p.R169R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147984046;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.478e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.855e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932107;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154064 rs12720442 G A 100 PASS AC=2;AF=0.0081869;AN=214;NS=2504;DP=15304;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G751A:p.A251T;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12720442;CLNALLELEID=189351;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.081;SIFT_converted_rankscore=0.334;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.343;LRT_pred=U;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.276;MutationTaster_pred=N;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.082;VEST3_rankscore=0.075;MetaSVM_score=-0.902;MetaSVM_rankscore=0.478;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_rankscore=0.383;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.589;CADD_raw_rankscore=0.253;CADD_phred=13.79;DANN_score=0.986;DANN_rankscore=0.432;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.552;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.011;Eigen-PC-raw=0.154;GenoCanyon_score=0.885;GenoCanyon_score_rankscore=0.257;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=4.670;phyloP100way_vertebrate_rankscore=0.610;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=0.906;phastCons100way_vertebrate_rankscore=0.313;phastCons20way_mammalian=0.481;phastCons20way_mammalian_rankscore=0.268;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0487;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0080;AF=0.0124;AF_popmax=0.0366;AF_male=0.0121;AF_female=0.0127;AF_raw=0.0125;AF_afr=0.0032;AF_sas=.;AF_amr=0.0366;AF_eas=0;AF_nfe=0.0181;AF_fin=0.0112;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0370;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0233;Kaviar_AF=0.0127036;Kaviar_AC=1964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914867;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154232 rs17215409 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13247;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C919T:p.P307S;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215409;CLNALLELEID=189353;CLNDN=Atrial_fibrillation,_familial,_7|altered_potassium_channel_function;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN231063;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.454;SIFT_converted_rankscore=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.007;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-4.32;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=0.02;PROVEAN_converted_rankscore=0.068;PROVEAN_pred=N;VEST3_score=0.101;VEST3_rankscore=0.104;MetaSVM_score=0.154;MetaSVM_rankscore=0.851;MetaSVM_pred=D;MetaLR_score=0.569;MetaLR_rankscore=0.844;MetaLR_pred=D;M-CAP_score=0.156;M-CAP_rankscore=0.838;M-CAP_pred=D;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.109;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.615;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_rankscore=0.178;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.403;Eigen-PC-raw=-1.349;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-0.862;GERP++_RS_rankscore=0.101;phyloP100way_vertebrate=0.293;phyloP100way_vertebrate_rankscore=0.186;phyloP20way_mammalian=-0.441;phyloP20way_mammalian_rankscore=0.057;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=2.667;SiPhy_29way_logOdds_rankscore=0.047;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0023;AF_popmax=0.0035;AF_male=0.0023;AF_female=0.0022;AF_raw=0.0023;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.823197;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154242 rs17215402 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=13529;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C929T:p.P310L;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215402;CLNALLELEID=189354;CLNDN=Atrial_fibrillation,_familial,_7|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.092;SIFT_converted_rankscore=0.316;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=0.969;MutationTaster_converted_rankscore=0.387;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-4.39;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.202;VEST3_rankscore=0.248;MetaSVM_score=-0.521;MetaSVM_rankscore=0.679;MetaSVM_pred=T;MetaLR_score=0.809;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.324;REVEL_rankscore=0.650;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.204;CADD_raw_rankscore=0.210;CADD_phred=11.77;DANN_score=0.990;DANN_rankscore=0.505;fathmm-MKL_coding_score=0.373;fathmm-MKL_coding_rankscore=0.255;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.494;Eigen-PC-raw=-0.421;GenoCanyon_score=0.553;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=1.166;phyloP100way_vertebrate_rankscore=0.312;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=0.0038;AF_popmax=0.0118;AF_male=0.0041;AF_female=0.0035;AF_raw=0.0038;AF_afr=0.0013;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0028;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0039974;Kaviar_AC=618;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836173;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154277 rs139614200 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14666;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G964T:p.D322Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139614200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.600;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.914;Polyphen2_HVAR_rankscore=0.632;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.735;MutationAssessor_score_rankscore=0.802;MutationAssessor_pred=M;FATHMM_score=-4.38;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=-8.03;PROVEAN_converted_rankscore=0.966;PROVEAN_pred=D;VEST3_score=0.972;VEST3_rankscore=0.973;MetaSVM_score=1.100;MetaSVM_rankscore=0.997;MetaSVM_pred=D;MetaLR_score=0.954;MetaLR_rankscore=0.985;MetaLR_pred=D;M-CAP_score=0.387;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.909;REVEL_rankscore=0.976;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.771;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.995;DANN_rankscore=0.670;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.897;Eigen-PC-raw=0.812;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=9.932;phyloP100way_vertebrate_rankscore=0.988;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.212;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=16.970;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.46e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.853e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.899245;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5154462 rs2359641 T C 100 PASS AC=214;AF=0.98103;AN=214;NS=2504;DP=17723;EAS_AF=0.996;AMR_AF=0.9885;AFR_AF=0.9372;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.T1149C:p.G383G;1000g2015aug_all=0.98103;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2359641;CLNALLELEID=254607;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9953;ExAC_nontcga_AFR=0.9529;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=0.9945;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9999;AF=0.9853;AF_popmax=0.9999;AF_male=0.9862;AF_female=0.9841;AF_raw=0.9852;AF_afr=0.9488;AF_sas=.;AF_amr=0.9906;AF_eas=0.9962;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9982;non_topmed_AF_popmax=0.9999;non_neuro_AF_popmax=0.9999;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.867730;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 5155046 rs12720445 G A 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=18223;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G1733A:p.R578K;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12720445;CLNALLELEID=189357;CLNDN=Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:C4551804,OMIM:601144|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.034;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.028;LRT_converted_rankscore=0.257;LRT_pred=U;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.222;MutationTaster_pred=N;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=-4.37;FATHMM_converted_rankscore=0.973;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.052;PROVEAN_pred=N;VEST3_score=0.2;VEST3_rankscore=0.245;MetaSVM_score=-0.173;MetaSVM_rankscore=0.784;MetaSVM_pred=T;MetaLR_score=0.720;MetaLR_rankscore=0.904;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.232;REVEL_rankscore=0.538;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.664;CADD_raw_rankscore=0.157;CADD_phred=8.590;DANN_score=0.966;DANN_rankscore=0.298;fathmm-MKL_coding_score=0.600;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.223;GenoCanyon_score=0.199;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=1.772;phyloP100way_vertebrate_rankscore=0.380;phyloP20way_mammalian=0.974;phyloP20way_mammalian_rankscore=0.594;phastCons100way_vertebrate=0.908;phastCons100way_vertebrate_rankscore=0.314;phastCons20way_mammalian=0.383;phastCons20way_mammalian_rankscore=0.251;SiPhy_29way_logOdds=8.84;SiPhy_29way_logOdds_rankscore=0.341;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0006;AF=0.0050;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0053;AF_raw=0.0050;AF_afr=0.0022;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0084;AF_fin=0.0009;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.856854;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 5155130 rs199616466 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19904;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.A1817G:p.D606G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199616466;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_rankscore=0.639;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_converted_rankscore=0.332;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.625;MutationAssessor_score_rankscore=0.771;MutationAssessor_pred=M;FATHMM_score=-4.88;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.461;VEST3_rankscore=0.513;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.188;M-CAP_rankscore=0.860;M-CAP_pred=D;REVEL_score=0.665;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.406;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.998;DANN_rankscore=0.895;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.993;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.744;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.583;integrated_fitCons_score_rankscore=0.331;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=8.699;phyloP100way_vertebrate_rankscore=0.910;phyloP20way_mammalian=1.112;phyloP20way_mammalian_rankscore=0.879;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=14.970;SiPhy_29way_logOdds_rankscore=0.707;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.656e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.895e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000449123|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918375;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21918616 rs199513950 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21764;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=KCNJ8;GeneDetail.refGene=NM_004982:c.*41C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199513950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=0.0001;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21918667 rs72554071 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21274;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ8;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ8:NM_004982:exon3:c.C1265T:p.S422L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72554071;CLNALLELEID=167406;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.21;SIFT_converted_rankscore=0.196;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_rankscore=0.154;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_converted_rankscore=0.157;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-1.12;FATHMM_converted_rankscore=0.776;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.249;VEST3_rankscore=0.310;MetaSVM_score=-0.952;MetaSVM_rankscore=0.406;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.555;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.419;M-CAP_pred=T;REVEL_score=0.187;REVEL_rankscore=0.468;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.046;CADD_raw_rankscore=0.307;CADD_phred=16.50;DANN_score=0.930;DANN_rankscore=0.220;fathmm-MKL_coding_score=0.447;fathmm-MKL_coding_rankscore=0.271;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.670;Eigen-PC-raw=-0.556;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.45;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=2.485;phyloP100way_vertebrate_rankscore=0.447;phyloP20way_mammalian=1.029;phyloP20way_mammalian_rankscore=0.652;phastCons100way_vertebrate=0.077;phastCons100way_vertebrate_rankscore=0.221;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=9.499;SiPhy_29way_logOdds_rankscore=0.380;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0010;AF=0.0008;AF_popmax=0.0005;AF_male=0.0011;AF_female=0.0004;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0006;AF_asj=0.0414;AF_oth=0.0018;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0014618;Kaviar_AC=226;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.098618;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21926614 rs556304562 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17630;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=KCNJ8;GeneDetail.refGene=NM_004982:c.-64G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556304562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000049646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1575939|N/A|FOXA1|PAZAR,OREG1634675|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21960458 rs149006200 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18655;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149006200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.457e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +12 21962721 rs149533136 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16734;EAS_AF=0;AMR_AF=0;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149533136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0033;AF_male=0.0008;AF_female=0.0013;AF_raw=0.0010;AF_afr=0.0033;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21965173 rs34690897 CTTAG C 100 PASS AC=4;AF=0.00638978;AN=214;NS=2504;DP=20157;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0092;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34690897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0118;AF_male=0.0061;AF_female=0.0054;AF_raw=0.0058;AF_afr=0.0024;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0065;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21971087 rs150303433 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=13081;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon30:c.T3768C:p.L1256L,ABCC9:NM_020297:exon30:c.T3768C:p.L1256L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150303433;CLNALLELEID=44298;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0020;AF_popmax=0.0035;AF_male=0.0022;AF_female=0.0017;AF_raw=0.0020;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019017;Kaviar_AC=294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.237309;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21981916 rs188944145 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16975;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon29:c.C3645T:p.A1215A,ABCC9:NM_020297:exon29:c.C3645T:p.A1215A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188944145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1574897|N/A|FOXA1|PAZAR,OREG1633616|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.451843;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21991197 rs61926066 T C 100 PASS AC=4;AF=0.0115815;AN=214;NS=2504;DP=18993;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0151;EUR_AF=0.0249;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61926066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0262;AF_popmax=0.0345;AF_male=0.0255;AF_female=0.0270;AF_raw=0.0262;AF_afr=0.0170;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0345;AF_fin=0.0273;AF_asj=0.0345;AF_oth=0.0230;non_topmed_AF_popmax=0.0325;non_neuro_AF_popmax=0.0340;non_cancer_AF_popmax=.;controls_AF_popmax=0.0268;Kaviar_AF=0.0057761;Kaviar_AC=893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21995253 rs201572736 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19020;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon27:c.C3468T:p.A1156A,ABCC9:NM_020297:exon27:c.C3468T:p.A1156A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201572736;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.285821;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21997678 rs187876084 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18156;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187876084;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21997874 rs11836934 C T 100 PASS AC=5;AF=0.0501198;AN=214;NS=2504;DP=18622;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1566;EUR_AF=0.0258;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0501198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11836934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0420;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.1380;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0287;ExAC_nontcga_NFE=0.0366;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0093;AF=0.0591;AF_popmax=0.1337;AF_male=0.0599;AF_female=0.0582;AF_raw=0.0592;AF_afr=0.1337;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0347;AF_fin=0.0273;AF_asj=0.0345;AF_oth=0.0340;non_topmed_AF_popmax=0.1333;non_neuro_AF_popmax=0.1330;non_cancer_AF_popmax=.;controls_AF_popmax=0.1248;Kaviar_AF=0.0356528;Kaviar_AC=5512;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 21998493 rs142498007 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=15320;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0076;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142498007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0051;ExAC_nontcga_SAS=6.898e-05;AF=0.0023;AF_popmax=0.0073;AF_male=0.0026;AF_female=0.0019;AF_raw=0.0023;AF_afr=0.0073;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0.0207;AF_oth=0.0009;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0101;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22001255 rs543809166 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543809166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22001272 rs117635387 C T 100 PASS AC=5;AF=0.0117812;AN=214;NS=2504;DP=19828;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.0038;EUR_AF=0.0288;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117635387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0122;AF_popmax=0.0224;AF_male=0.0112;AF_female=0.0134;AF_raw=0.0123;AF_afr=0.0046;AF_sas=.;AF_amr=0.0224;AF_eas=0.0006;AF_nfe=0.0158;AF_fin=0.0118;AF_asj=0.0586;AF_oth=0.0193;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0253;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22005003 rs2307024 T G 100 PASS AC=84;AF=0.334665;AN=214;NS=2504;DP=16099;EAS_AF=0.2649;AMR_AF=0.3271;AFR_AF=0.2322;EUR_AF=0.3867;SAS_AF=0.4969;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.334665;GWAS=rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758;ORegAnno_REGULATORY_P=rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758;avsnp150=rs2307024;CLNALLELEID=254488;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4124;ExAC_nontcga_ALL=0.3869;ExAC_nontcga_AFR=0.2481;ExAC_nontcga_AMR=0.3127;ExAC_nontcga_EAS=0.2790;ExAC_nontcga_FIN=0.3843;ExAC_nontcga_NFE=0.4102;ExAC_nontcga_OTH=0.4493;ExAC_nontcga_SAS=0.4871;AF=0.3516;AF_popmax=0.4031;AF_male=0.3488;AF_female=0.3551;AF_raw=0.3520;AF_afr=0.2559;AF_sas=.;AF_amr=0.3408;AF_eas=0.2763;AF_nfe=0.4031;AF_fin=0.3847;AF_asj=0.4545;AF_oth=0.3704;non_topmed_AF_popmax=0.4003;non_neuro_AF_popmax=0.4010;non_cancer_AF_popmax=.;controls_AF_popmax=0.3766;Kaviar_AF=0.382576;Kaviar_AC=59147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|0 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|0 0|0 1|0 1|0 1|0 1|1 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 0|1 0|1 +12 22005167 rs61926078 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17264;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61926078;CLNALLELEID=44296;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0130;ExAC_nontcga_NFE=0.0090;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0020;AF=0.0097;AF_popmax=0.0139;AF_male=0.0092;AF_female=0.0103;AF_raw=0.0097;AF_afr=0.0023;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0127;AF_asj=0.0069;AF_oth=0.0184;non_topmed_AF_popmax=0.0155;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0223;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879803;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22005258 rs117514003 G T 100 PASS AC=13;AF=0.0171725;AN=214;NS=2504;DP=16671;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.0076;EUR_AF=0.0447;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117514003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0512;ExAC_nontcga_ALL=0.0329;ExAC_nontcga_AFR=0.0124;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0209;ExAC_nontcga_NFE=0.0512;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0124;AF=0.0310;AF_popmax=0.0456;AF_male=0.0310;AF_female=0.0310;AF_raw=0.0310;AF_afr=0.0140;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0456;AF_fin=0.0196;AF_asj=0.0552;AF_oth=0.0294;non_topmed_AF_popmax=0.0436;non_neuro_AF_popmax=0.0454;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0345144;Kaviar_AC=5336;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 +12 22005510 rs704183 A G 100 PASS AC=214;AF=0.994609;AN=214;NS=2504;DP=15024;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9803;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.994609;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9954;AF_popmax=1;AF_male=0.9952;AF_female=0.9957;AF_raw=0.9954;AF_afr=0.9838;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22015858 rs199782480 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16690;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199782480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.011e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.008e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22016004 rs201144903;rs564004542;rs4148670 GA AA,GAA,G 100 PASS AC=2,4,71;AF=0.014377,0.0131789,0.360423;AN=214;NS=2504;DP=15488;EAS_AF=0.0079,0.0149,0.3938;AMR_AF=0.0115,0.0187,0.4121;AFR_AF=0.028,0.0151,0.3684;EUR_AF=0.005,0.0089,0.3101;SAS_AF=0.0143,0.0092,0.3303;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201144903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0037;AF_popmax=0.0033;AF_male=0.0037;AF_female=0.0037;AF_raw=0.0070;AF_afr=0.0027;AF_sas=.;AF_amr=0.0015;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0150;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0079;Kaviar_AF=0.0004657;Kaviar_AC=72;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148670;CLNALLELEID=330167;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4269;ExAC_nontcga_AFR=0.4564;ExAC_nontcga_AMR=0.5150;ExAC_nontcga_EAS=0.4756;ExAC_nontcga_FIN=0.3876;ExAC_nontcga_NFE=0.4118;ExAC_nontcga_OTH=0.3882;ExAC_nontcga_SAS=0.3929;AF=0.3458;AF_popmax=0.4566;AF_male=0.3444;AF_female=0.3476;AF_raw=0.3059;AF_afr=0.3584;AF_sas=.;AF_amr=0.4566;AF_eas=0.3911;AF_nfe=0.3192;AF_fin=0.3963;AF_asj=0.3268;AF_oth=0.3728;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4535;non_cancer_AF_popmax=.;controls_AF_popmax=0.5125;Kaviar_AF=0.0193076;Kaviar_AC=2985;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 3|0 0|0 0|0 0|3 3|3 0|0 0|0 0|0 0|3 3|3 0|3 0|3 0|0 3|0 0|0 3|3 0|0 0|0 0|0 3|3 3|3 3|0 3|0 0|3 3|0 3|0 3|0 0|0 0|0 0|0 0|0 0|0 0|0 3|0 3|3 0|0 0|3 0|1 2|0 0|0 3|0 0|3 0|2 0|0 0|0 0|0 0|0 0|0 0|0 3|0 0|0 0|3 0|0 0|0 3|3 0|3 0|1 0|3 0|3 0|0 0|0 0|0 0|0 0|0 0|0 3|3 0|3 3|3 0|3 3|3 3|3 0|0 0|3 3|0 0|0 0|3 0|0 3|3 3|0 0|2 0|3 3|3 3|0 0|3 0|3 3|3 0|2 0|3 0|3 0|0 0|0 0|0 0|3 0|3 3|0 0|0 0|3 3|0 0|0 0|3 0|0 3|0 3|3 3|0 0|0 0|0 0|0 +12 22017278 rs568078730 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16929;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568078730;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.997264;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017398 rs202054255 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon17:c.G2212A:p.E738K,ABCC9:NM_020297:exon17:c.G2212A:p.E738K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.136;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_rankscore=0.262;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.099;Polyphen2_HVAR_rankscore=0.290;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.291;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=0.29;MutationAssessor_score_rankscore=0.101;MutationAssessor_pred=N;FATHMM_score=-2.69;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-0.97;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.585;VEST3_rankscore=0.618;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.602;MetaLR_rankscore=0.858;MetaLR_pred=D;M-CAP_score=0.081;M-CAP_rankscore=0.737;M-CAP_pred=D;REVEL_score=0.440;REVEL_rankscore=0.747;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.625;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.995;DANN_rankscore=0.698;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.629;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.233;GenoCanyon_score=0.539;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.97;GERP++_RS_rankscore=0.653;phyloP100way_vertebrate=5.519;phyloP100way_vertebrate_rankscore=0.666;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.028;SiPhy_29way_logOdds_rankscore=0.891;Interpro_domain=AAA+_ATPase_domain|ABC_transporter-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.698e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.052726;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017410 rs61688134 C T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=18330;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon17:c.G2200A:p.V734I,ABCC9:NM_020297:exon17:c.G2200A:p.V734I;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61688134;CLNALLELEID=44292;CLNDN=Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.31;SIFT_converted_rankscore=0.140;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.019;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=D;MutationAssessor_score=0.78;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=-3.27;FATHMM_converted_rankscore=0.936;FATHMM_pred=D;PROVEAN_score=-0.1;PROVEAN_converted_rankscore=0.088;PROVEAN_pred=N;VEST3_score=0.459;VEST3_rankscore=0.511;MetaSVM_score=-0.808;MetaSVM_rankscore=0.547;MetaSVM_pred=T;MetaLR_score=0.642;MetaLR_rankscore=0.875;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.287;REVEL_rankscore=0.610;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.389;CADD_raw_rankscore=0.348;CADD_phred=18.75;DANN_score=0.986;DANN_rankscore=0.433;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_rankscore=0.392;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.150;Eigen-PC-raw=0.053;GenoCanyon_score=0.539;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.97;GERP++_RS_rankscore=0.653;phyloP100way_vertebrate=2.925;phyloP100way_vertebrate_rankscore=0.483;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.028;SiPhy_29way_logOdds_rankscore=0.891;Interpro_domain=AAA+_ATPase_domain|ABC_transporter-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0344;dbscSNV_RF_SCORE=0.194;esp6500siv2_ea=0.0132;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0084;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0001;AF=0.0058;AF_popmax=0.0089;AF_male=0.0062;AF_female=0.0052;AF_raw=0.0058;AF_afr=0.0022;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0077942;Kaviar_AC=1205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.147069;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017422 rs697250 A G 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=18450;EAS_AF=1;AMR_AF=1;AFR_AF=0.9932;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs697250;CLNALLELEID=54569;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7220;dbscSNV_RF_SCORE=0.39;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9942;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9987;AF_popmax=1;AF_male=0.9987;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9953;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941288;Kaviar_AC=145525;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030706;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22017428 rs191677545 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18459;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191677545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.698e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030706;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22017486 rs697251 C G 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=18218;EAS_AF=1;AMR_AF=1;AFR_AF=0.9932;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs697251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9987;AF_popmax=1;AF_male=0.9987;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9953;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22025671 rs185235724 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14307;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185235724;CLNALLELEID=54566;CLNDN=Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0006;AF=0.0026;AF_popmax=0.0045;AF_male=0.0029;AF_female=0.0023;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0028072;Kaviar_AC=434;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035615 rs4148663 A T 100 PASS AC=3;AF=0.0391374;AN=214;NS=2504;DP=17368;EAS_AF=0.1181;AMR_AF=0.0749;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148663;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0200;AF_popmax=0.1350;AF_male=0.0195;AF_female=0.0205;AF_raw=0.0200;AF_afr=0.0036;AF_sas=.;AF_amr=0.0507;AF_eas=0.1350;AF_nfe=0.0156;AF_fin=0.0239;AF_asj=0.0069;AF_oth=0.0156;non_topmed_AF_popmax=0.1344;non_neuro_AF_popmax=0.1350;non_cancer_AF_popmax=.;controls_AF_popmax=0.1338;Kaviar_AF=0.0044372;Kaviar_AC=686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035847 rs199512953 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199512953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.844e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.038e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.7e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.388e-05;AF_popmax=0.0012;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22035873 rs1356368 C T 100 PASS AC=150;AF=0.534744;AN=214;NS=2504;DP=16086;EAS_AF=0.5169;AMR_AF=0.6859;AFR_AF=0.1982;EUR_AF=0.7386;SAS_AF=0.6912;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.534744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1356368;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6337;AF_popmax=0.7825;AF_male=0.6230;AF_female=0.6472;AF_raw=0.6331;AF_afr=0.2877;AF_sas=.;AF_amr=0.6998;AF_eas=0.5136;AF_nfe=0.7825;AF_fin=0.8370;AF_asj=0.7345;AF_oth=0.7394;non_topmed_AF_popmax=0.7855;non_neuro_AF_popmax=0.7819;non_cancer_AF_popmax=.;controls_AF_popmax=0.7953;Kaviar_AF=0.135432;Kaviar_AC=20938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|0 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|0 0|1 0|1 1|1 0|1 +12 22035883 rs1283802 T G 100 PASS AC=53;AF=0.421925;AN=214;NS=2504;DP=16111;EAS_AF=0.4812;AMR_AF=0.2795;AFR_AF=0.6959;EUR_AF=0.2266;SAS_AF=0.2924;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.421925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1283802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3258;AF_popmax=0.6097;AF_male=0.3348;AF_female=0.3145;AF_raw=0.3260;AF_afr=0.6097;AF_sas=.;AF_amr=0.2742;AF_eas=0.4846;AF_nfe=0.2004;AF_fin=0.1525;AF_asj=0.2172;AF_oth=0.2311;non_topmed_AF_popmax=0.6091;non_neuro_AF_popmax=0.6038;non_cancer_AF_popmax=.;controls_AF_popmax=0.6099;Kaviar_AF=0.0519528;Kaviar_AC=8032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 1|0 +12 22040784 rs150036969 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19907;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.G1887T:p.E629D,ABCC9:NM_020297:exon13:c.G1887T:p.E629D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150036969;CLNALLELEID=54559;CLNDN=Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.466;SIFT_converted_rankscore=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.291;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-3.04;FATHMM_converted_rankscore=0.924;FATHMM_pred=D;PROVEAN_score=-0.79;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.661;VEST3_rankscore=0.673;MetaSVM_score=-0.410;MetaSVM_rankscore=0.717;MetaSVM_pred=T;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.532;REVEL_rankscore=0.806;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.197;CADD_raw_rankscore=0.325;CADD_phred=17.49;DANN_score=0.986;DANN_rankscore=0.431;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.500;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.425;Eigen-PC-raw=-0.263;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.24;GERP++_RS_rankscore=0.361;phyloP100way_vertebrate=0.136;phyloP100way_vertebrate_rankscore=0.157;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.091;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.309743;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 22040854 rs149229372 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.A1817C:p.N606T,ABCC9:NM_020297:exon13:c.A1817C:p.N606T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149229372;CLNALLELEID=399359;CLNDN=Dilated_cardiomyopathy_1O;CLNDISDB=MedGen:C1837839,OMIM:608569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.19;SIFT_converted_rankscore=0.403;SIFT_pred=T;Polyphen2_HDIV_score=0.036;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=0.933;MutationTaster_converted_rankscore=0.370;MutationTaster_pred=D;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=-3.45;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.336;PROVEAN_pred=N;VEST3_score=0.107;VEST3_rankscore=0.230;MetaSVM_score=-0.013;MetaSVM_rankscore=0.820;MetaSVM_pred=T;MetaLR_score=0.615;MetaLR_rankscore=0.864;MetaLR_pred=D;M-CAP_score=0.088;M-CAP_rankscore=0.752;M-CAP_pred=D;REVEL_score=0.233;REVEL_rankscore=0.540;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.400;CADD_raw_rankscore=0.350;CADD_phred=18.82;DANN_score=0.989;DANN_rankscore=0.486;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.582;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.269;Eigen-PC-raw=-0.086;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.041;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.503;phyloP100way_vertebrate_rankscore=0.529;phyloP20way_mammalian=1.042;phyloP20way_mammalian_rankscore=0.661;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.264;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=ABC_transporter_type_1,_transmembrane_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.889e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.478e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.478e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.339e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.208202;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22047151 rs704216 G T 100 PASS AC=214;AF=0.997804;AN=214;NS=2504;DP=18653;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704216;CLNALLELEID=254490;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9945;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9987;AF_popmax=1;AF_male=0.9989;AF_female=0.9986;AF_raw=0.9987;AF_afr=0.9954;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934878;Kaviar_AC=144534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22047174 rs704217 C T 100 PASS AC=166;AF=0.686302;AN=214;NS=2504;DP=19098;EAS_AF=0.8264;AMR_AF=0.621;AFR_AF=0.5847;EUR_AF=0.7227;SAS_AF=0.6881;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.686302;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs704217;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6610;AF_popmax=0.8273;AF_male=0.6567;AF_female=0.6664;AF_raw=0.6607;AF_afr=0.5791;AF_sas=.;AF_amr=0.6149;AF_eas=0.8273;AF_nfe=0.6842;AF_fin=0.6845;AF_asj=0.8138;AF_oth=0.6691;non_topmed_AF_popmax=0.8289;non_neuro_AF_popmax=0.8273;non_cancer_AF_popmax=.;controls_AF_popmax=0.8275;Kaviar_AF=0.131344;Kaviar_AC=20306;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|1 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +12 22059121 rs143346402 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=20034;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon10:c.G1557A:p.E519E,ABCC9:NM_020297:exon10:c.G1557A:p.E519E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143346402;CLNALLELEID=54555;CLNDN=Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.066e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.183e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1633617|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.613253;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22059244 rs556218427 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18060;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556218427;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.732e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.902e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.635949;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22063115 rs10770865 A G 100 PASS AC=214;AF=0.997204;AN=214;NS=2504;DP=15446;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9902;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;1000g2015aug_all=0.997204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10770865;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9989;ExAC_nontcga_AFR=0.9893;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9973;AF_popmax=1;AF_male=0.9976;AF_female=0.9970;AF_raw=0.9972;AF_afr=0.9904;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000965892|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.146457;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063251 rs35857705 CA C 100 PASS AC=72;AF=0.375799;AN=214;NS=2504;DP=14138;EAS_AF=0.3681;AMR_AF=0.3919;AFR_AF=0.3669;EUR_AF=0.3887;SAS_AF=0.3712;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.375799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35857705;CLNALLELEID=44291;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4411;ExAC_nontcga_AFR=0.4092;ExAC_nontcga_AMR=0.4605;ExAC_nontcga_EAS=0.3975;ExAC_nontcga_FIN=0.4598;ExAC_nontcga_NFE=0.4487;ExAC_nontcga_OTH=0.4110;ExAC_nontcga_SAS=0.4287;AF=0.4217;AF_popmax=0.5125;AF_male=0.4198;AF_female=0.4241;AF_raw=0.3245;AF_afr=0.3635;AF_sas=.;AF_amr=0.5125;AF_eas=0.2546;AF_nfe=0.4676;AF_fin=0.4554;AF_asj=0.3444;AF_oth=0.4408;non_topmed_AF_popmax=0.5106;non_neuro_AF_popmax=0.5096;non_cancer_AF_popmax=.;controls_AF_popmax=0.4559;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|1 0|1 1|0 0|0 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 +12 22063737 rs4762719 G T 100 PASS AC=214;AF=0.991613;AN=214;NS=2504;DP=14627;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9697;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.991613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4762719;CLNALLELEID=254491;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9969;ExAC_nontcga_AFR=0.9677;ExAC_nontcga_AMR=0.9975;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=1;AF=0.9913;AF_popmax=1;AF_male=0.9912;AF_female=0.9914;AF_raw=0.9913;AF_afr=0.9694;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063749 rs4762720 T C 100 PASS AC=214;AF=0.991613;AN=214;NS=2504;DP=14617;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9697;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.991613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4762720;CLNALLELEID=54551;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9969;ExAC_nontcga_AFR=0.9678;ExAC_nontcga_AMR=0.9975;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9998;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=1;AF=0.9913;AF_popmax=1;AF_male=0.9912;AF_female=0.9914;AF_raw=0.9913;AF_afr=0.9694;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 22063971 rs4148654 A G 100 PASS AC=154;AF=0.667332;AN=214;NS=2504;DP=14359;EAS_AF=0.8046;AMR_AF=0.572;AFR_AF=0.6127;EUR_AF=0.6571;SAS_AF=0.6779;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.667332;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6108;AF_popmax=0.8135;AF_male=0.6101;AF_female=0.6116;AF_raw=0.6104;AF_afr=0.5980;AF_sas=.;AF_amr=0.5738;AF_eas=0.8135;AF_nfe=0.6022;AF_fin=0.5912;AF_asj=0.7724;AF_oth=0.5909;non_topmed_AF_popmax=0.8160;non_neuro_AF_popmax=0.8135;non_cancer_AF_popmax=.;controls_AF_popmax=0.8177;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 +12 22068591 rs200986421 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9211;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200986421;CLNALLELEID=54588;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.197308;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 22068849 rs3759236 G T 100 PASS AC=148;AF=0.644768;AN=214;NS=2504;DP=15228;EAS_AF=0.8026;AMR_AF=0.549;AFR_AF=0.5893;EUR_AF=0.6402;SAS_AF=0.6299;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.644768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3759236;CLNALLELEID=54586;CLNDN=Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.5925;ExAC_nontcga_ALL=0.6129;ExAC_nontcga_AFR=0.5893;ExAC_nontcga_AMR=0.5382;ExAC_nontcga_EAS=0.7861;ExAC_nontcga_FIN=0.5943;ExAC_nontcga_NFE=0.6004;ExAC_nontcga_OTH=0.6429;ExAC_nontcga_SAS=0.6400;AF=0.5982;AF_popmax=0.8114;AF_male=0.5976;AF_female=0.5990;AF_raw=0.5975;AF_afr=0.5790;AF_sas=.;AF_amr=0.5603;AF_eas=0.8114;AF_nfe=0.5918;AF_fin=0.5852;AF_asj=0.7431;AF_oth=0.5712;non_topmed_AF_popmax=0.8139;non_neuro_AF_popmax=0.8114;non_cancer_AF_popmax=.;controls_AF_popmax=0.8154;Kaviar_AF=0.600891;Kaviar_AC=92899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.653107;ALLELE_END;VINYL_score=1 GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 0|1 1|0 1|1 1|1 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 +12 22078838 rs2277405 T G 100 PASS AC=155;AF=0.701677;AN=214;NS=2504;DP=17928;EAS_AF=0.8056;AMR_AF=0.5793;AFR_AF=0.736;EUR_AF=0.659;SAS_AF=0.6789;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.701677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277405;CLNALLELEID=254492;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6074;ExAC_nontcga_ALL=0.6410;ExAC_nontcga_AFR=0.7116;ExAC_nontcga_AMR=0.5542;ExAC_nontcga_EAS=0.7895;ExAC_nontcga_FIN=0.6017;ExAC_nontcga_NFE=0.6145;ExAC_nontcga_OTH=0.6696;ExAC_nontcga_SAS=0.6931;AF=0.6407;AF_popmax=0.8127;AF_male=0.6418;AF_female=0.6392;AF_raw=0.6399;AF_afr=0.7016;AF_sas=.;AF_amr=0.5782;AF_eas=0.8127;AF_nfe=0.6030;AF_fin=0.5936;AF_asj=0.7724;AF_oth=0.6032;non_topmed_AF_popmax=0.8153;non_neuro_AF_popmax=0.8127;non_cancer_AF_popmax=.;controls_AF_popmax=0.8158;Kaviar_AF=0.628918;Kaviar_AC=97232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|0 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 +12 22089425 rs182534835 A G 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19172;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182534835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0103;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=6.964e-05;AF=0.0058;AF_popmax=0.0078;AF_male=0.0049;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0078;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0073;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 25362777 rs1137282 A G 100 PASS AC=46;AF=0.175519;AN=214;NS=2504;DP=18305;EAS_AF=0.0923;AMR_AF=0.1931;AFR_AF=0.18;EUR_AF=0.2187;SAS_AF=0.1984;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_004985:exon5:c.T519C:p.D173D;1000g2015aug_all=0.175519;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1137282;CLNALLELEID=49887;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2160;ExAC_nontcga_ALL=0.1951;ExAC_nontcga_AFR=0.1865;ExAC_nontcga_AMR=0.1695;ExAC_nontcga_EAS=0.0977;ExAC_nontcga_FIN=0.1591;ExAC_nontcga_NFE=0.2221;ExAC_nontcga_OTH=0.1553;ExAC_nontcga_SAS=0.1911;AF=0.1888;AF_popmax=0.2146;AF_male=0.1869;AF_female=0.1911;AF_raw=0.1890;AF_afr=0.1734;AF_sas=.;AF_amr=0.2146;AF_eas=0.0873;AF_nfe=0.2130;AF_fin=0.1606;AF_asj=0.1966;AF_oth=0.1829;non_topmed_AF_popmax=0.2173;non_neuro_AF_popmax=0.2202;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.194758;Kaviar_AC=30110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.450857;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|0 +12 25362854 rs12313763 C T 100 PASS AC=1;AF=0.0836661;AN=214;NS=2504;DP=17844;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.2897;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0836661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12313763;CLNALLELEID=48934;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0009;dbscSNV_RF_SCORE=0.062;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0277;ExAC_nontcga_AFR=0.2649;ExAC_nontcga_AMR=0.0209;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0378;ExAC_nontcga_SAS=0.0014;AF=0.0790;AF_popmax=0.2704;AF_male=0.0823;AF_female=0.0748;AF_raw=0.0790;AF_afr=0.2704;AF_sas=.;AF_amr=0.0436;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0.0414;AF_oth=0.0211;non_topmed_AF_popmax=0.2703;non_neuro_AF_popmax=0.2641;non_cancer_AF_popmax=.;controls_AF_popmax=0.2672;Kaviar_AF=0.0269013;Kaviar_AC=4159;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.923621;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 25368462 rs4362222 C T 100 PASS AC=214;AF=0.997604;AN=214;NS=2504;DP=16952;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_033360:exon5:c.G483A:p.R161R;1000g2015aug_all=0.997604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4362222;CLNALLELEID=55703;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9995;ExAC_nontcga_AFR=0.9945;ExAC_nontcga_AMR=0.9997;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9985;AF_popmax=1;AF_male=0.9985;AF_female=0.9985;AF_raw=0.9985;AF_afr=0.9947;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.936689;Kaviar_AC=144814;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.523630;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +12 25398162 rs199716819 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19935;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199716819;CLNALLELEID=254495;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0026;AF=0.0012;AF_popmax=0.0019;AF_male=0.0014;AF_female=0.0010;AF_raw=0.0012;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0020;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040179;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32945486 rs113493546 G T 100 PASS AC=6;AF=0.0339457;AN=214;NS=2504;DP=20761;EAS_AF=0.0069;AMR_AF=0.0159;AFR_AF=0.0688;EUR_AF=0.0348;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113493546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0391;AF_popmax=0.0622;AF_male=0.0378;AF_female=0.0406;AF_raw=0.0391;AF_afr=0.0622;AF_sas=.;AF_amr=0.0224;AF_eas=0.0077;AF_nfe=0.0243;AF_fin=0.0627;AF_asj=0.0759;AF_oth=0.0359;non_topmed_AF_popmax=0.0625;non_neuro_AF_popmax=0.0657;non_cancer_AF_popmax=.;controls_AF_popmax=0.0673;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639552;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113493546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0391;AF_popmax=0.0622;AF_male=0.0378;AF_female=0.0406;AF_raw=0.0391;AF_afr=0.0622;AF_sas=.;AF_amr=0.0224;AF_eas=0.0077;AF_nfe=0.0243;AF_fin=0.0627;AF_asj=0.0759;AF_oth=0.0359;non_topmed_AF_popmax=0.0625;non_neuro_AF_popmax=0.0657;non_cancer_AF_popmax=.;controls_AF_popmax=0.0673;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639552;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +12 32945495 rs7956824 C T 100 PASS AC=143;AF=0.450479;AN=214;NS=2504;DP=20629;EAS_AF=0.1865;AMR_AF=0.4827;AFR_AF=0.5658;EUR_AF=0.6779;SAS_AF=0.3098;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.450479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7956824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6090;AF_popmax=0.6576;AF_male=0.6000;AF_female=0.6203;AF_raw=0.6080;AF_afr=0.5595;AF_sas=.;AF_amr=0.4846;AF_eas=0.2266;AF_nfe=0.6576;AF_fin=0.7187;AF_asj=0.5793;AF_oth=0.6112;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6584;non_cancer_AF_popmax=.;controls_AF_popmax=0.6607;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.122638;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.450479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7956824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6090;AF_popmax=0.6576;AF_male=0.6000;AF_female=0.6203;AF_raw=0.6080;AF_afr=0.5595;AF_sas=.;AF_amr=0.4846;AF_eas=0.2266;AF_nfe=0.6576;AF_fin=0.7187;AF_asj=0.5793;AF_oth=0.6112;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6584;non_cancer_AF_popmax=.;controls_AF_popmax=0.6607;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.122638;ALLELE_END;VINYL_score=1 GT 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|0 0|1 +12 32945721 rs6488091 G T 100 PASS AC=143;AF=0.45028;AN=214;NS=2504;DP=17677;EAS_AF=0.1865;AMR_AF=0.4827;AFR_AF=0.5658;EUR_AF=0.6779;SAS_AF=0.3088;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.45028;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6488091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6760;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6097;AF_popmax=0.6579;AF_male=0.6006;AF_female=0.6210;AF_raw=0.6090;AF_afr=0.5623;AF_sas=.;AF_amr=0.4894;AF_eas=0.2234;AF_nfe=0.6579;AF_fin=0.7185;AF_asj=0.5799;AF_oth=0.6123;non_topmed_AF_popmax=0.6568;non_neuro_AF_popmax=0.6589;non_cancer_AF_popmax=.;controls_AF_popmax=0.6612;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.798832;ALLELE_END;VINYL_score=1 GT 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|0 1|0 1|0 0|1 +12 32949029 rs149968852 A AG 100 PASS AC=23;AF=0.318291;AN=214;NS=2504;DP=19550;EAS_AF=0.5774;AMR_AF=0.2046;AFR_AF=0.2995;EUR_AF=0.1402;SAS_AF=0.3405;AA=G|-|G|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.318291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149968852;CLNALLELEID=54237;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1393;ExAC_nontcga_ALL=0.2157;ExAC_nontcga_AFR=0.2854;ExAC_nontcga_AMR=0.1568;ExAC_nontcga_EAS=0.5443;ExAC_nontcga_FIN=0.1839;ExAC_nontcga_NFE=0.1402;ExAC_nontcga_OTH=0.2003;ExAC_nontcga_SAS=0.3236;AF=0.2022;AF_popmax=0.5540;AF_male=0.2068;AF_female=0.1964;AF_raw=0.2025;AF_afr=0.2714;AF_sas=.;AF_amr=0.1663;AF_eas=0.5540;AF_nfe=0.1390;AF_fin=0.1665;AF_asj=0.1701;AF_oth=0.1976;non_topmed_AF_popmax=0.5519;non_neuro_AF_popmax=0.5540;non_cancer_AF_popmax=.;controls_AF_popmax=0.5535;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.767636;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 +12 32949101 rs139734328 G T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=19509;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon11:c.C2299A:p.R767S,PKP2:NM_004572:exon12:c.C2431A:p.R811S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139734328;CLNALLELEID=54235;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.267;Polyphen2_HDIV_rankscore=0.338;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_rankscore=0.360;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.344;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.499;MutationTaster_pred=D;MutationAssessor_score=2.98;MutationAssessor_score_rankscore=0.858;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_converted_rankscore=0.494;FATHMM_pred=T;PROVEAN_score=-3.22;PROVEAN_converted_rankscore=0.649;PROVEAN_pred=D;VEST3_score=0.768;VEST3_rankscore=0.837;MetaSVM_score=-0.636;MetaSVM_rankscore=0.634;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_rankscore=0.558;MetaLR_pred=T;M-CAP_score=0.099;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.211;CADD_raw_rankscore=0.946;CADD_phred=34;DANN_score=0.995;DANN_rankscore=0.697;fathmm-MKL_coding_score=0.816;fathmm-MKL_coding_rankscore=0.407;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.305;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.428;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.06;GERP++_RS_rankscore=0.677;phyloP100way_vertebrate=3.692;phyloP100way_vertebrate_rankscore=0.542;phyloP20way_mammalian=1.044;phyloP20way_mammalian_rankscore=0.665;phastCons100way_vertebrate=0.919;phastCons100way_vertebrate_rankscore=0.317;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=17.583;SiPhy_29way_logOdds_rankscore=0.878;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0104;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.868951;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32949252 rs57690055 AC A 100 PASS AC=23;AF=0.304912;AN=214;NS=2504;DP=18159;EAS_AF=0.5734;AMR_AF=0.196;AFR_AF=0.295;EUR_AF=0.1312;SAS_AF=0.2975;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57690055;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1207;ExAC_nontcga_ALL=0.1644;ExAC_nontcga_AFR=0.2221;ExAC_nontcga_AMR=0.1277;ExAC_nontcga_EAS=0.3910;ExAC_nontcga_FIN=0.1512;ExAC_nontcga_NFE=0.1114;ExAC_nontcga_OTH=0.1471;ExAC_nontcga_SAS=0.2423;AF=0.1765;AF_popmax=0.5336;AF_male=0.1821;AF_female=0.1693;AF_raw=0.1857;AF_afr=0.2462;AF_sas=.;AF_amr=0.1318;AF_eas=0.5336;AF_nfe=0.1195;AF_fin=0.1146;AF_asj=0.1469;AF_oth=0.1501;non_topmed_AF_popmax=0.5316;non_neuro_AF_popmax=0.5336;non_cancer_AF_popmax=.;controls_AF_popmax=0.5298;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.915329;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 +12 32974245 rs10772008 C T 100 PASS AC=177;AF=0.591653;AN=214;NS=2504;DP=20105;EAS_AF=0.3244;AMR_AF=0.5764;AFR_AF=0.652;EUR_AF=0.8091;SAS_AF=0.5726;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.591653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10772008;CLNALLELEID=254502;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8183;ExAC_nontcga_ALL=0.7041;ExAC_nontcga_AFR=0.6589;ExAC_nontcga_AMR=0.5068;ExAC_nontcga_EAS=0.3574;ExAC_nontcga_FIN=0.8121;ExAC_nontcga_NFE=0.8161;ExAC_nontcga_OTH=0.7442;ExAC_nontcga_SAS=0.6090;AF=0.7406;AF_popmax=0.8152;AF_male=0.7350;AF_female=0.7477;AF_raw=0.7402;AF_afr=0.6610;AF_sas=.;AF_amr=0.5912;AF_eas=0.3521;AF_nfe=0.8152;AF_fin=0.8134;AF_asj=0.7724;AF_oth=0.7482;non_topmed_AF_popmax=0.8117;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8083;Kaviar_AF=0.702416;Kaviar_AC=108595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.032486;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 +12 32974352 rs199583774 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16726;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon9:c.C1951T:p.R651C,PKP2:NM_004572:exon10:c.C2083T:p.R695C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199583774;CLNALLELEID=54223;CLNDN=Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_converted_rankscore=0.387;LRT_pred=N;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.434;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=-0.94;FATHMM_converted_rankscore=0.753;FATHMM_pred=T;PROVEAN_score=-5.0;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=D;VEST3_score=0.727;VEST3_rankscore=0.770;MetaSVM_score=0.032;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.506;MetaLR_rankscore=0.814;MetaLR_pred=D;M-CAP_score=0.336;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.588;REVEL_rankscore=0.837;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.044;CADD_raw_rankscore=0.939;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.386;fathmm-MKL_coding_rankscore=0.258;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.381;Eigen-PC-raw=0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.419;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.81;GERP++_RS_rankscore=0.318;phyloP100way_vertebrate=1.439;phyloP100way_vertebrate_rankscore=0.344;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.386;phastCons100way_vertebrate_rankscore=0.258;phastCons20way_mammalian=0.962;phastCons20way_mammalian_rankscore=0.444;SiPhy_29way_logOdds=11.102;SiPhy_29way_logOdds_rankscore=0.472;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=9.556e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909625;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32974523 rs73090746 C T 100 PASS AC=2;AF=0.00399361;AN=214;NS=2504;DP=18030;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73090746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0073;AF_popmax=0.0110;AF_male=0.0077;AF_female=0.0068;AF_raw=0.0073;AF_afr=0.0021;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0069;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019469;Kaviar_AC=301;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438194;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32977103 rs200009796 G GA 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=22610;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=AAAAAA|AAAAAA|AAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200009796;CLNALLELEID=54207;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0112;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0047;AF_popmax=0.0054;AF_male=0.0047;AF_female=0.0047;AF_raw=0.0046;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0137;AF_asj=0.0175;AF_oth=0.0066;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0053;non_cancer_AF_popmax=.;controls_AF_popmax=0.0050;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.227632;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32994144 rs189036647 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18273;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189036647;CLNALLELEID=373007;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0059;dbscSNV_RF_SCORE=0.038;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739357;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 32994180 rs186175440 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186175440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.465e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.547518;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33003918 rs183414126 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19799;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183414126;CLNALLELEID=54181;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.038;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0041;AF=0.0023;AF_popmax=0.0039;AF_male=0.0023;AF_female=0.0023;AF_raw=0.0023;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0006;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000454896|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.129710;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33021934 rs1046116 A G 100 PASS AC=37;AF=0.151358;AN=214;NS=2504;DP=17069;EAS_AF=0.0308;AMR_AF=0.1614;AFR_AF=0.2103;EUR_AF=0.2157;SAS_AF=0.1227;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;1000g2015aug_all=0.151358;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1046116;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_converted_rankscore=0.180;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.79;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_converted_rankscore=0.478;FATHMM_pred=T;PROVEAN_score=0.72;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.029;MetaSVM_rankscore=0.209;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.127;REVEL_rankscore=0.354;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.112;CADD_raw_rankscore=0.104;CADD_phred=3.732;DANN_score=0.241;DANN_rankscore=0.011;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.029;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.186;Eigen-PC-raw=-1.049;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.108;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.19;GERP++_RS_rankscore=0.485;phyloP100way_vertebrate=1.970;phyloP100way_vertebrate_rankscore=0.399;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.130;phastCons100way_vertebrate_rankscore=0.231;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.800;SiPhy_29way_logOdds_rankscore=0.126;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2301;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.1988;ExAC_nontcga_AMR=0.1173;ExAC_nontcga_EAS=0.0302;ExAC_nontcga_FIN=0.1921;ExAC_nontcga_NFE=0.2072;ExAC_nontcga_OTH=0.2104;ExAC_nontcga_SAS=0.1630;AF=0.1977;AF_popmax=0.2195;AF_male=0.1961;AF_female=0.1998;AF_raw=0.1980;AF_afr=0.1974;AF_sas=.;AF_amr=0.1616;AF_eas=0.0295;AF_nfe=0.2195;AF_fin=0.1818;AF_asj=0.2;AF_oth=0.2109;non_topmed_AF_popmax=0.2189;non_neuro_AF_popmax=0.2172;non_cancer_AF_popmax=.;controls_AF_popmax=0.2082;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.695445;ALLELE_END;VINYL_score=2.5 GT 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33030802 rs139851304 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20147;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A1012G:p.T338A,PKP2:NM_004572:exon3:c.A1012G:p.T338A;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139851304;CLNALLELEID=54170;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.444;SIFT_converted_rankscore=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-0.38;PROVEAN_converted_rankscore=0.134;PROVEAN_pred=N;VEST3_score=0.018;VEST3_rankscore=0.020;MetaSVM_score=-0.823;MetaSVM_rankscore=0.538;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_rankscore=0.691;MetaLR_pred=T;M-CAP_score=0.083;M-CAP_rankscore=0.742;M-CAP_pred=D;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.051;CADD_raw_rankscore=0.030;CADD_phred=0.012;DANN_score=0.873;DANN_rankscore=0.166;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.319;Eigen-PC-raw=-1.424;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-8.09;GERP++_RS_rankscore=0.010;phyloP100way_vertebrate=-2.041;phyloP100way_vertebrate_rankscore=0.015;phyloP20way_mammalian=-0.700;phyloP20way_mammalian_rankscore=0.038;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=8.742;SiPhy_29way_logOdds_rankscore=0.335;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0010;AF=0.0009;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0005;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0517;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000454924|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.908348;ALLELE_END;VINYL_score=5.5 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33031309 rs139139859 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19061;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A505G:p.S169G,PKP2:NM_004572:exon3:c.A505G:p.S169G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139139859;CLNALLELEID=54248;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.297;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_converted_rankscore=0.019;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.6;MutationAssessor_score_rankscore=0.156;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_converted_rankscore=0.807;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.422;VEST3_rankscore=0.693;MetaSVM_score=-0.874;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_rankscore=0.618;MetaLR_pred=T;M-CAP_score=0.037;M-CAP_rankscore=0.572;M-CAP_pred=D;REVEL_score=0.521;REVEL_rankscore=0.799;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.338;CADD_raw_rankscore=0.127;CADD_phred=6.055;DANN_score=0.937;DANN_rankscore=0.231;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.037;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.236;Eigen-PC-raw=-1.199;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-1.54;GERP++_RS_rankscore=0.081;phyloP100way_vertebrate=-0.040;phyloP100way_vertebrate_rankscore=0.120;phyloP20way_mammalian=-0.592;phyloP20way_mammalian_rankscore=0.044;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.026;phastCons20way_mammalian_rankscore=0.142;SiPhy_29way_logOdds=8.679;SiPhy_29way_logOdds_rankscore=0.332;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0024;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000279|hsa-miR-222-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865158;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +12 33031799 rs190636501 A G 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=17941;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190636501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0050;AF_popmax=0.0072;AF_male=0.0050;AF_female=0.0050;AF_raw=0.0050;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0058;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0009767;Kaviar_AC=151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.016007;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 33049590 rs143004808 C T 100 PASS AC=2;AF=0.00299521;AN=214;NS=2504;DP=8671;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G76A:p.D26N,PKP2:NM_004572:exon1:c.G76A:p.D26N;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143004808;CLNALLELEID=54251;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.874;Polyphen2_HVAR_rankscore=0.603;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_converted_rankscore=0.346;LRT_pred=N;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-1.74;FATHMM_converted_rankscore=0.834;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.022;MetaSVM_score=0.033;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.451;MetaLR_rankscore=0.785;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.430;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.871;CADD_raw_rankscore=0.930;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.940;fathmm-MKL_coding_score=0.750;fathmm-MKL_coding_rankscore=0.364;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.389;Eigen-PC-raw=0.388;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=1.682;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=0.822;phyloP20way_mammalian_rankscore=0.336;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.410;SiPhy_29way_logOdds_rankscore=0.745;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0146;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0048;ExAC_nontcga_SAS=0.0047;AF=0.0058;AF_popmax=0.0106;AF_male=0.0064;AF_female=0.0050;AF_raw=0.0058;AF_afr=0.0017;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0026;AF_asj=0.0517;AF_oth=0.0083;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000050745|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1177020|N/A|TFAP2C|PAZAR,OREG1497724|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.954482;ALLELE_END;VINYL_score=9 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98909876 rs139576816 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7910;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMPO:NM_001032283:exon1:c.C231T:p.L77L,TMPO:NM_001032284:exon1:c.C231T:p.L77L,TMPO:NM_001307975:exon1:c.C231T:p.L77L,TMPO:NM_003276:exon1:c.C231T:p.L77L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139576816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.287e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.381e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000056128|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251609|N/A|SMARCA4|PAZAR,OREG1169900|N/A|TFAP2C|PAZAR,OREG1490154|N/A|EGR1|PAZAR,OREG1221463|N/A|SMARCA4|PAZAR,OREG1792011|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.774619;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98925650 rs3213901 G T 100 PASS AC=110;AF=0.530351;AN=214;NS=2504;DP=17490;EAS_AF=0.3601;AMR_AF=0.4481;AFR_AF=0.6339;EUR_AF=0.5527;SAS_AF=0.6012;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.530351;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3213901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5688;ExAC_nontcga_ALL=0.5389;ExAC_nontcga_AFR=0.6417;ExAC_nontcga_AMR=0.4026;ExAC_nontcga_EAS=0.3706;ExAC_nontcga_FIN=0.5824;ExAC_nontcga_NFE=0.5553;ExAC_nontcga_OTH=0.5380;ExAC_nontcga_SAS=0.5853;AF=0.5743;AF_popmax=0.6401;AF_male=0.5736;AF_female=0.5751;AF_raw=0.5738;AF_afr=0.6401;AF_sas=.;AF_amr=0.4314;AF_eas=0.3659;AF_nfe=0.5641;AF_fin=0.5919;AF_asj=0.4966;AF_oth=0.5627;non_topmed_AF_popmax=0.6399;non_neuro_AF_popmax=0.6389;non_cancer_AF_popmax=.;controls_AF_popmax=0.6373;Kaviar_AF=0.526552;Kaviar_AC=81406;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 0|1 0|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 0|1 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 0|0 1|1 1|0 +12 98926985 rs35969221 C G 100 PASS AC=1;AF=0.0299521;AN=214;NS=2504;DP=18745;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1051;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C950G:p.T317S;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35969221;CLNALLELEID=45538;CLNDN=Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674574,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.322;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=-1.087;MetaSVM_rankscore=0.060;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.088;REVEL_rankscore=0.260;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.863;CADD_raw_rankscore=0.521;CADD_phred=23.5;DANN_score=0.974;DANN_rankscore=0.334;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_rankscore=0.540;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.076;Eigen-PC-raw=0.147;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=3.531;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.309;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.1095;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0002;AF=0.0320;AF_popmax=0.1113;AF_male=0.0323;AF_female=0.0317;AF_raw=0.0321;AF_afr=0.1113;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.1101;non_neuro_AF_popmax=0.1125;non_cancer_AF_popmax=.;controls_AF_popmax=0.1088;Kaviar_AF=0.010168;Kaviar_AC=1572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251610|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.262299;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927147 rs199943517 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18621;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1112G:p.P371R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199943517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.443;LRT_pred=D;MutationTaster_score=0.978;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=0.92;FATHMM_converted_rankscore=0.445;FATHMM_pred=T;PROVEAN_score=0.73;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.815;VEST3_rankscore=0.803;MetaSVM_score=-0.830;MetaSVM_rankscore=0.534;MetaSVM_pred=T;MetaLR_score=0.166;MetaLR_rankscore=0.504;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.508;M-CAP_pred=D;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.570;CADD_raw_rankscore=0.758;CADD_phred=26.4;DANN_score=0.998;DANN_rankscore=0.892;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_rankscore=0.425;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.578;Eigen-PC-raw=0.609;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.43;GERP++_RS_rankscore=0.789;phyloP100way_vertebrate=3.531;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.110;SiPhy_29way_logOdds_rankscore=0.719;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.422e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.367424;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927278 rs200367787 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19394;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.T1243G:p.S415A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200367787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_rankscore=0.227;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=0.725;LRT_converted_rankscore=0.099;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=1.42;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.191;PROVEAN_pred=N;VEST3_score=0.259;VEST3_rankscore=0.315;MetaSVM_score=-1.016;MetaSVM_rankscore=0.250;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.213;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.171;M-CAP_pred=T;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.194;CADD_raw_rankscore=0.112;CADD_phred=4.612;DANN_score=0.990;DANN_rankscore=0.500;fathmm-MKL_coding_score=0.158;fathmm-MKL_coding_rankscore=0.189;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.605;Eigen-PC-raw=-0.561;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.344;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.13;GERP++_RS_rankscore=0.349;phyloP100way_vertebrate=1.302;phyloP100way_vertebrate_rankscore=0.328;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.177;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.097;phastCons20way_mammalian_rankscore=0.188;SiPhy_29way_logOdds=4.871;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=5.655e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.209e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.925601;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98927830 rs17459334 C G 100 PASS AC=29;AF=0.0589058;AN=214;NS=2504;DP=22302;EAS_AF=0.001;AMR_AF=0.0403;AFR_AF=0.003;EUR_AF=0.1093;SAS_AF=0.1554;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1795G:p.Q599E;1000g2015aug_all=0.0589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17459334;CLNALLELEID=53834;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.1;SIFT_converted_rankscore=0.305;SIFT_pred=T;Polyphen2_HDIV_score=0.919;Polyphen2_HDIV_rankscore=0.489;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_rankscore=0.443;Polyphen2_HVAR_pred=P;LRT_score=0.054;LRT_converted_rankscore=0.228;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-0.13;PROVEAN_converted_rankscore=0.090;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.267;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.146;REVEL_rankscore=0.393;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.914;CADD_raw_rankscore=0.291;CADD_phred=15.67;DANN_score=0.983;DANN_rankscore=0.397;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.410;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.470;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=2.191;phyloP100way_vertebrate_rankscore=0.420;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.922;SiPhy_29way_logOdds_rankscore=0.793;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227825.3|ENSG00000227825.3|ENSG00000120802.9;GTEx_V6p_tissue=Heart_Atrial_Appendage|Heart_Left_Ventricle|Pancreas;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0965;ExAC_nontcga_ALL=0.0875;ExAC_nontcga_AFR=0.0169;ExAC_nontcga_AMR=0.0400;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1034;ExAC_nontcga_NFE=0.0983;ExAC_nontcga_OTH=0.1006;ExAC_nontcga_SAS=0.1595;AF=0.0687;AF_popmax=0.0945;AF_male=0.0649;AF_female=0.0733;AF_raw=0.0687;AF_afr=0.0190;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.0945;AF_fin=0.1053;AF_asj=0.0833;AF_oth=0.0910;non_topmed_AF_popmax=0.0936;non_neuro_AF_popmax=0.0917;non_cancer_AF_popmax=.;controls_AF_popmax=0.0876;Kaviar_AF=0.0845397;Kaviar_AC=13070;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0890151::0.668379;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0900735::0.61514;ENSEMBLReg=Name\x3dENSR00000972255|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1734232|N/A|HNF4A|PAZAR,OREG1709425|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.334910;ALLELE_END;VINYL_score=6.5 GT 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 +12 98938894 rs572058041 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15068;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572058041;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=7.183e-05;AF_male=0.0002;AF_female=8.427e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=7.183e-05;AF_fin=0;AF_asj=0.0106;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=8.213e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98938907 rs577612551;rs577612551;rs577612551;rs60129149 G T 100 PASS AC=99;AF=0.444089;AN=214;NS=2504;DP=17030;EAS_AF=0.4554;AMR_AF=0.451;AFR_AF=0.41;EUR_AF=0.4483;SAS_AF=0.4693;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.444089;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60129149;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0227;AF_popmax=0.0452;AF_male=0.0244;AF_female=0.0205;AF_raw=0.0188;AF_afr=0.0452;AF_sas=.;AF_amr=0.0066;AF_eas=0.001;AF_nfe=0.0115;AF_fin=0.0253;AF_asj=0.0060;AF_oth=0.0154;non_topmed_AF_popmax=0.0450;non_neuro_AF_popmax=0.0494;non_cancer_AF_popmax=.;controls_AF_popmax=0.0525;Kaviar_AF=0.0879822;Kaviar_AC=2290;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 0|1 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|0 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|0 +12 98938911 rs201498123 T TG 100 PASS AC=4;AF=0.0425319;AN=214;NS=2504;DP=17121;EAS_AF=0.0069;AMR_AF=0.0461;AFR_AF=0.1195;EUR_AF=0.0139;SAS_AF=0.002;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201498123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0507;AF_popmax=0.1402;AF_male=0.0511;AF_female=0.0501;AF_raw=0.0483;AF_afr=0.1402;AF_sas=.;AF_amr=0.0268;AF_eas=0.0077;AF_nfe=0.0142;AF_fin=0.0016;AF_asj=0.0615;AF_oth=0.0316;non_topmed_AF_popmax=0.1408;non_neuro_AF_popmax=0.1367;non_cancer_AF_popmax=.;controls_AF_popmax=0.1427;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98940228 rs34449077 A AT 100 PASS AC=23;AF=0.086262;AN=214;NS=2504;DP=18561;EAS_AF=0.2212;AMR_AF=0.0461;AFR_AF=0.003;EUR_AF=0.0944;SAS_AF=0.0798;AA=TT|TT|TTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.086262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34449077;CLNALLELEID=52860;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0840;ExAC_nontcga_ALL=0.0823;ExAC_nontcga_AFR=0.0131;ExAC_nontcga_AMR=0.0322;ExAC_nontcga_EAS=0.2491;ExAC_nontcga_FIN=0.1346;ExAC_nontcga_NFE=0.0731;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0840;AF=0.0779;AF_popmax=0.2455;AF_male=0.0789;AF_female=0.0767;AF_raw=0.0780;AF_afr=0.0147;AF_sas=.;AF_amr=0.0342;AF_eas=0.2455;AF_nfe=0.0844;AF_fin=0.1355;AF_asj=0.0690;AF_oth=0.1031;non_topmed_AF_popmax=0.2451;non_neuro_AF_popmax=0.2455;non_cancer_AF_popmax=.;controls_AF_popmax=0.2413;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.262833;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +12 98940250 rs376673871 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18668;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376673871;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98940289 rs139377405 T A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17906;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139377405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0039;AF_male=0.0026;AF_female=0.0024;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0.0414;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0007115;Kaviar_AC=110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 98941637 rs1058300 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111350807 rs61940351 G A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=17590;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61940351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0145;AF_popmax=0.0175;AF_male=0.0137;AF_female=0.0156;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0423;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0182;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0208;Kaviar_AF=0.0023868;Kaviar_AC=369;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111350999 rs2233260 G A,T 100 PASS AC=46,3;AF=0.14996,0.00439297;AN=214;NS=2504;DP=19195;EAS_AF=0.002,0;AMR_AF=0.3444,0.0058;AFR_AF=0.1286,0;EUR_AF=0.2515,0.0139;SAS_AF=0.089,0.0041;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1601;ExAC_nontcga_AMR=0.3363;ExAC_nontcga_EAS=0.0028;ExAC_nontcga_FIN=0.2741;ExAC_nontcga_NFE=0.2247;ExAC_nontcga_OTH=0.2399;ExAC_nontcga_SAS=0.1244;AF=0.2094;AF_popmax=0.2884;AF_male=0.2047;AF_female=0.2154;AF_raw=0.2091;AF_afr=0.1619;AF_sas=.;AF_amr=0.2884;AF_eas=0.0045;AF_nfe=0.2365;AF_fin=0.2717;AF_asj=0.1345;AF_oth=0.2518;non_topmed_AF_popmax=0.2946;non_neuro_AF_popmax=0.2645;non_cancer_AF_popmax=.;controls_AF_popmax=0.2350;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0065;AF=0.0147;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0158;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0109701;Kaviar_AC=1696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1601;ExAC_nontcga_AMR=0.3363;ExAC_nontcga_EAS=0.0028;ExAC_nontcga_FIN=0.2741;ExAC_nontcga_NFE=0.2247;ExAC_nontcga_OTH=0.2399;ExAC_nontcga_SAS=0.1244;AF=0.2094;AF_popmax=0.2884;AF_male=0.2047;AF_female=0.2154;AF_raw=0.2091;AF_afr=0.1619;AF_sas=.;AF_amr=0.2884;AF_eas=0.0045;AF_nfe=0.2365;AF_fin=0.2717;AF_asj=0.1345;AF_oth=0.2518;non_topmed_AF_popmax=0.2946;non_neuro_AF_popmax=0.2645;non_cancer_AF_popmax=.;controls_AF_popmax=0.2350;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0065;AF=0.0147;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0158;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0109701;Kaviar_AC=1696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.757976;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 2|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 2|2 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +12 111351002 rs369884745 CA C 100 PASS AC=1;AF=0.0449281;AN=214;NS=2504;DP=19458;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1626;EUR_AF=0.001;SAS_AF=0;AA=?|A|-|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369884745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1211;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0337;AF_popmax=0.1182;AF_male=0.0342;AF_female=0.0332;AF_raw=0.0331;AF_afr=0.1182;AF_sas=.;AF_amr=0.0096;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0075;non_topmed_AF_popmax=0.1188;non_neuro_AF_popmax=0.1157;non_cancer_AF_popmax=.;controls_AF_popmax=0.1152;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0449281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369884745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1211;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0337;AF_popmax=0.1182;AF_male=0.0342;AF_female=0.0332;AF_raw=0.0331;AF_afr=0.1182;AF_sas=.;AF_amr=0.0096;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0075;non_topmed_AF_popmax=0.1188;non_neuro_AF_popmax=0.1157;non_cancer_AF_popmax=.;controls_AF_popmax=0.1152;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351003 rs142220381 A AG 100 PASS AC=11;AF=0.10024;AN=214;NS=2504;DP=19077;EAS_AF=0.1954;AMR_AF=0.0259;AFR_AF=0.0507;EUR_AF=0.0746;SAS_AF=0.1483;AA=?|GGGGG|GGGGGG|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142220381;CLNALLELEID=40435;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0664;ExAC_nontcga_ALL=0.0894;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0272;ExAC_nontcga_EAS=0.2235;ExAC_nontcga_FIN=0.0732;ExAC_nontcga_NFE=0.0710;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1371;AF=0.0776;AF_popmax=0.2445;AF_male=0.0797;AF_female=0.0750;AF_raw=0.0770;AF_afr=0.0682;AF_sas=.;AF_amr=0.0422;AF_eas=0.2445;AF_nfe=0.0725;AF_fin=0.0631;AF_asj=0.0517;AF_oth=0.0631;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0071668;Kaviar_AC=1108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142220381;CLNALLELEID=40435;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0664;ExAC_nontcga_ALL=0.0894;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0272;ExAC_nontcga_EAS=0.2235;ExAC_nontcga_FIN=0.0732;ExAC_nontcga_NFE=0.0710;ExAC_nontcga_OTH=0.0735;ExAC_nontcga_SAS=0.1371;AF=0.0776;AF_popmax=0.2445;AF_male=0.0797;AF_female=0.0750;AF_raw=0.0770;AF_afr=0.0682;AF_sas=.;AF_amr=0.0422;AF_eas=0.2445;AF_nfe=0.0725;AF_fin=0.0631;AF_asj=0.0517;AF_oth=0.0631;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0071668;Kaviar_AC=1108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.532868;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351029 rs3833910 TC T 100 PASS AC=57;AF=0.252596;AN=214;NS=2504;DP=21351;EAS_AF=0.2044;AMR_AF=0.3703;AFR_AF=0.18;EUR_AF=0.326;SAS_AF=0.2413;AA=CCCC|CCCCC|CCCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833910;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3138;ExAC_nontcga_ALL=0.2889;ExAC_nontcga_AFR=0.2220;ExAC_nontcga_AMR=0.3626;ExAC_nontcga_EAS=0.2301;ExAC_nontcga_FIN=0.3468;ExAC_nontcga_NFE=0.2951;ExAC_nontcga_OTH=0.3136;ExAC_nontcga_SAS=0.2590;AF=0.2850;AF_popmax=0.3278;AF_male=0.2826;AF_female=0.2880;AF_raw=0.2855;AF_afr=0.2271;AF_sas=.;AF_amr=0.3278;AF_eas=0.2487;AF_nfe=0.3080;AF_fin=0.3335;AF_asj=0.1840;AF_oth=0.3137;non_topmed_AF_popmax=0.3308;non_neuro_AF_popmax=0.3157;non_cancer_AF_popmax=.;controls_AF_popmax=0.3032;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955156;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833910;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3138;ExAC_nontcga_ALL=0.2889;ExAC_nontcga_AFR=0.2220;ExAC_nontcga_AMR=0.3626;ExAC_nontcga_EAS=0.2301;ExAC_nontcga_FIN=0.3468;ExAC_nontcga_NFE=0.2951;ExAC_nontcga_OTH=0.3136;ExAC_nontcga_SAS=0.2590;AF=0.2850;AF_popmax=0.3278;AF_male=0.2826;AF_female=0.2880;AF_raw=0.2855;AF_afr=0.2271;AF_sas=.;AF_amr=0.3278;AF_eas=0.2487;AF_nfe=0.3080;AF_fin=0.3335;AF_asj=0.1840;AF_oth=0.3137;non_topmed_AF_popmax=0.3308;non_neuro_AF_popmax=0.3157;non_cancer_AF_popmax=.;controls_AF_popmax=0.3032;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955156;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 +12 111351186 rs2071629 C T 100 PASS AC=11;AF=0.102636;AN=214;NS=2504;DP=19242;EAS_AF=0.2024;AMR_AF=0.0259;AFR_AF=0.0514;EUR_AF=0.0746;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071629;CLNALLELEID=136733;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0644;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0771;AF_popmax=0.2461;AF_male=0.0795;AF_female=0.0741;AF_raw=0.0772;AF_afr=0.0675;AF_sas=.;AF_amr=0.0414;AF_eas=0.2461;AF_nfe=0.0723;AF_fin=0.0622;AF_asj=0.0517;AF_oth=0.0626;non_topmed_AF_popmax=0.2503;non_neuro_AF_popmax=0.2461;non_cancer_AF_popmax=.;controls_AF_popmax=0.2330;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.151560;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351204 rs146401175 T G 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=18614;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146401175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0146;AF_popmax=0.0175;AF_male=0.0137;AF_female=0.0157;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0182;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0023609;Kaviar_AC=365;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.665065;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351932 rs148639029 C A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=18473;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148639029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0146;AF_popmax=0.0176;AF_male=0.0138;AF_female=0.0156;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0107192;Kaviar_AC=279;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111351937 rs11065770 C T 100 PASS AC=11;AF=0.0982428;AN=214;NS=2504;DP=18761;EAS_AF=0.2024;AMR_AF=0.0216;AFR_AF=0.0068;EUR_AF=0.0755;SAS_AF=0.1922;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11065770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0644;AF_popmax=0.2448;AF_male=0.0651;AF_female=0.0635;AF_raw=0.0647;AF_afr=0.0198;AF_sas=.;AF_amr=0.0414;AF_eas=0.2448;AF_nfe=0.0726;AF_fin=0.0622;AF_asj=0.0966;AF_oth=0.0653;non_topmed_AF_popmax=0.2490;non_neuro_AF_popmax=0.2448;non_cancer_AF_popmax=.;controls_AF_popmax=0.2307;Kaviar_AF=0.0753419;Kaviar_AC=1961;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111351973 rs200007468 C CAG 100 PASS AC=3;AF=0.00539137;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0038;EUR_AF=0.0139;SAS_AF=0.0041;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200007468;CLNALLELEID=179427;CLNDN=Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0441;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0063;AF=0.0146;AF_popmax=0.0176;AF_male=0.0137;AF_female=0.0157;AF_raw=0.0146;AF_afr=0.0022;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0426;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0208;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.730780;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111353556 rs2301610 A G 100 PASS AC=15;AF=0.115216;AN=214;NS=2504;DP=19995;EAS_AF=0.2024;AMR_AF=0.0317;AFR_AF=0.0522;EUR_AF=0.0895;SAS_AF=0.1963;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL2:NM_000432:exon3:c.T132C:p.I44I;1000g2015aug_all=0.115216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2301610;CLNALLELEID=40431;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0801;ExAC_nontcga_ALL=0.1044;ExAC_nontcga_AFR=0.0694;ExAC_nontcga_AMR=0.0328;ExAC_nontcga_EAS=0.2285;ExAC_nontcga_FIN=0.1178;ExAC_nontcga_NFE=0.0854;ExAC_nontcga_OTH=0.0994;ExAC_nontcga_SAS=0.1713;AF=0.0918;AF_popmax=0.2445;AF_male=0.0934;AF_female=0.0899;AF_raw=0.0919;AF_afr=0.0699;AF_sas=.;AF_amr=0.0519;AF_eas=0.2445;AF_nfe=0.0900;AF_fin=0.1050;AF_asj=0.0517;AF_oth=0.0754;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2445;non_cancer_AF_popmax=.;controls_AF_popmax=0.2341;Kaviar_AF=0.099643;Kaviar_AC=15405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934138;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111357074 rs10849917 T A 100 PASS AC=15;AF=0.166134;AN=214;NS=2504;DP=17702;EAS_AF=0.2014;AMR_AF=0.0461;AFR_AF=0.236;EUR_AF=0.0905;SAS_AF=0.1984;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.166134;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10849917;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1353;AF_popmax=0.2468;AF_male=0.1395;AF_female=0.1300;AF_raw=0.1356;AF_afr=0.2234;AF_sas=.;AF_amr=0.0684;AF_eas=0.2468;AF_nfe=0.0901;AF_fin=0.1042;AF_asj=0.0517;AF_oth=0.0855;non_topmed_AF_popmax=0.2510;non_neuro_AF_popmax=0.2468;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0203296;Kaviar_AC=3143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.406044;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +12 111358234 rs2233258 G A 100 PASS AC=3;AF=0.0207668;AN=214;NS=2504;DP=14542;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.062;EUR_AF=0.0109;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0247;AF_popmax=0.0505;AF_male=0.0239;AF_female=0.0256;AF_raw=0.0247;AF_afr=0.0505;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0140;AF_fin=0.0291;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0503;non_neuro_AF_popmax=0.0488;non_cancer_AF_popmax=.;controls_AF_popmax=0.0530;Kaviar_AF=0.0022251;Kaviar_AC=344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.765627;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358252 rs145639951 C G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14847;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145639951;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.370126;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358266 rs76139625 C T 100 PASS AC=3;AF=0.0155751;AN=214;NS=2504;DP=15055;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0446;EUR_AF=0.0109;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76139625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0228;AF_popmax=0.0420;AF_male=0.0221;AF_female=0.0236;AF_raw=0.0228;AF_afr=0.0420;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0325;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0420;non_neuro_AF_popmax=0.0426;non_cancer_AF_popmax=.;controls_AF_popmax=0.0420;Kaviar_AF=0.0025291;Kaviar_AC=391;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000469763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.842829;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 111358423 rs143380163 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17657;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=MYL2;GeneDetail.refGene=dist\x3d19;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143380163;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.815549;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112856954 rs7972574 G C 100 PASS AC=2;AF=0.0632987;AN=214;NS=2504;DP=8072;EAS_AF=0.0089;AMR_AF=0.0259;AFR_AF=0.1974;EUR_AF=0.0129;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0632987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7972574;CLNALLELEID=48948;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0259;ExAC_nontcga_AFR=0.2149;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0152;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0197;AF=0.0546;AF_popmax=0.1517;AF_male=0.0563;AF_female=0.0524;AF_raw=0.0547;AF_afr=0.1517;AF_sas=.;AF_amr=0.0240;AF_eas=0.0097;AF_nfe=0.0177;AF_fin=0.0137;AF_asj=0;AF_oth=0.0370;non_topmed_AF_popmax=0.1520;non_neuro_AF_popmax=0.1451;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.0070956;Kaviar_AC=1097;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0340909::1.00307;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000057523|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1876458|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.618165;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112856983 rs7973432 C A 100 PASS AC=2;AF=0.0453275;AN=214;NS=2504;DP=8165;EAS_AF=0.0089;AMR_AF=0.0187;AFR_AF=0.1331;EUR_AF=0.0129;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0453275;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7973432;CLNALLELEID=48950;CLNDN=Noonan_syndrome;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0429;AF_popmax=0.1103;AF_male=0.0451;AF_female=0.0402;AF_raw=0.0431;AF_afr=0.1103;AF_sas=.;AF_amr=0.0203;AF_eas=0.0097;AF_nfe=0.0176;AF_fin=0.0137;AF_asj=0;AF_oth=0.0354;non_topmed_AF_popmax=0.1103;non_neuro_AF_popmax=0.1061;non_cancer_AF_popmax=.;controls_AF_popmax=0.1084;Kaviar_AF=0.0217458;Kaviar_AC=566;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.030303::1.00847;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000057523|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1876458|N/A|STAT1|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.767916;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112888140 rs147388185 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20594;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PTPN11:NM_001330437:exon3:c.C156T:p.T52T,PTPN11:NM_002834:exon3:c.C156T:p.T52T,PTPN11:NM_080601:exon3:c.C156T:p.T52T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147388185;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767811;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112891203 rs41304351 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=15124;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41304351;CLNALLELEID=48986;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0019;AF=0.0090;AF_popmax=0.0224;AF_male=0.0082;AF_female=0.0101;AF_raw=0.0090;AF_afr=0.0028;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0146;AF_fin=0.0023;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0235;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361145;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112893675 rs569070852;rs566654281 GTTT GTT 100 PASS AC=104;AF=0.477236;AN=214;NS=2504;DP=19199;EAS_AF=0.4752;AMR_AF=0.4914;AFR_AF=0.4697;EUR_AF=0.4901;SAS_AF=0.4663;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.537355;ALLELE_END;VINYL_score=13 GT 1|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 +12 112910723 rs200165689 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20452;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200165689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.957e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.735471;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112915434 rs41279090 C T 100 PASS AC=11;AF=0.0365415;AN=214;NS=2504;DP=19498;EAS_AF=0.001;AMR_AF=0.0663;AFR_AF=0.0197;EUR_AF=0.0716;SAS_AF=0.0389;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41279090;CLNALLELEID=49002;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0741;ExAC_nontcga_ALL=0.0575;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0483;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0375;ExAC_nontcga_NFE=0.0785;ExAC_nontcga_OTH=0.0650;ExAC_nontcga_SAS=0.0490;AF=0.0531;AF_popmax=0.0800;AF_male=0.0508;AF_female=0.0559;AF_raw=0.0530;AF_afr=0.0198;AF_sas=.;AF_amr=0.0579;AF_eas=0;AF_nfe=0.0800;AF_fin=0.0366;AF_asj=0.0586;AF_oth=0.0618;non_topmed_AF_popmax=0.0818;non_neuro_AF_popmax=0.0795;non_cancer_AF_popmax=.;controls_AF_popmax=0.0811;Kaviar_AF=0.0604003;Kaviar_AC=9338;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0776515::0.670168;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0716912::0.63378;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.940777;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 112919869 rs12301915 C A 100 PASS AC=1;AF=0.0429313;AN=214;NS=2504;DP=18256;EAS_AF=0.0089;AMR_AF=0.0187;AFR_AF=0.1339;EUR_AF=0.0099;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12301915;CLNALLELEID=49012;CLNDN=Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0068;dbscSNV_RF_SCORE=0.106;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.1201;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0.0074;ExAC_nontcga_FIN=0.0141;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0096;AF=0.0424;AF_popmax=0.1111;AF_male=0.0445;AF_female=0.0397;AF_raw=0.0422;AF_afr=0.1111;AF_sas=.;AF_amr=0.0200;AF_eas=0.0096;AF_nfe=0.0162;AF_fin=0.0136;AF_asj=0;AF_oth=0.0306;non_topmed_AF_popmax=0.1110;non_neuro_AF_popmax=0.1071;non_cancer_AF_popmax=.;controls_AF_popmax=0.1091;Kaviar_AF=0.0195793;Kaviar_AC=3027;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0284091::1.03976;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.002032;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114793297 rs10850326 T C 100 PASS AC=3;AF=0.0806709;AN=214;NS=2504;DP=19954;EAS_AF=0.3462;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0481;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TBX5;GeneDetail.refGene=NM_181486:c.*40A>G\x3bNM_000192:c.*40A>G\x3bNM_080717:c.*40A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0806709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10850326;CLNALLELEID=254419;CLNDN=Holt-Oram_syndrome|not_specified;CLNDISDB=MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0414;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0.3560;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0179;ExAC_nontcga_SAS=0.0555;AF=0.0222;AF_popmax=0.3663;AF_male=0.0262;AF_female=0.0172;AF_raw=0.0223;AF_afr=0.0026;AF_sas=.;AF_amr=0.0047;AF_eas=0.3663;AF_nfe=0.0046;AF_fin=0.0040;AF_asj=0.0172;AF_oth=0.0119;non_topmed_AF_popmax=0.3656;non_neuro_AF_popmax=0.3663;non_cancer_AF_popmax=.;controls_AF_popmax=0.3606;Kaviar_AF=0.0318042;Kaviar_AC=4917;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156487;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114803927 rs3741694 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16834;EAS_AF=0.003;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3741694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.64;FATHMM_converted_rankscore=0.902;FATHMM_pred=D;PROVEAN_score=1.04;PROVEAN_converted_rankscore=0.013;PROVEAN_pred=N;VEST3_score=0.17;VEST3_rankscore=0.206;MetaSVM_score=-0.655;MetaSVM_rankscore=0.625;MetaSVM_pred=T;MetaLR_score=0.434;MetaLR_rankscore=0.775;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.076;CADD_raw_rankscore=0.087;CADD_phred=1.914;DANN_score=0.596;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.051;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.463;Eigen-PC-raw=-1.618;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-9.48;GERP++_RS_rankscore=0.005;phyloP100way_vertebrate=-1.340;phyloP100way_vertebrate_rankscore=0.027;phyloP20way_mammalian=-0.743;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=0.487;SiPhy_29way_logOdds_rankscore=0.005;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.369e-05;AF_popmax=0.0013;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.566178;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114803954 rs28730762 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=17082;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730762;CLNALLELEID=254422;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.91;FATHMM_converted_rankscore=0.847;FATHMM_pred=D;PROVEAN_score=-1.48;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.238;VEST3_rankscore=0.291;MetaSVM_score=-0.494;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.473;MetaLR_rankscore=0.798;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.287;M-CAP_pred=T;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.054;CADD_raw_rankscore=0.089;CADD_phred=2.093;DANN_score=0.566;DANN_rankscore=0.055;fathmm-MKL_coding_score=0.234;fathmm-MKL_coding_rankscore=0.218;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.486;Eigen-PC-raw=-0.674;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.113;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.65;GERP++_RS_rankscore=0.305;phyloP100way_vertebrate=0.058;phyloP100way_vertebrate_rankscore=0.141;phyloP20way_mammalian=-0.442;phyloP20way_mammalian_rankscore=0.057;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=6.304;SiPhy_29way_logOdds_rankscore=0.202;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0097;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0009;AF=0.0060;AF_popmax=0.0094;AF_male=0.0064;AF_female=0.0054;AF_raw=0.0060;AF_afr=0.0031;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0020;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0056791;Kaviar_AC=878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.353174;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +12 114832510 rs2236017 C A 100 PASS AC=129;AF=0.528754;AN=214;NS=2504;DP=17155;EAS_AF=0.3502;AMR_AF=0.7032;AFR_AF=0.3933;EUR_AF=0.6054;SAS_AF=0.6933;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2236017;CLNALLELEID=143217;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6307;ExAC_nontcga_ALL=0.6119;ExAC_nontcga_AFR=0.4213;ExAC_nontcga_AMR=0.7992;ExAC_nontcga_EAS=0.3427;ExAC_nontcga_FIN=0.6172;ExAC_nontcga_NFE=0.6266;ExAC_nontcga_OTH=0.5821;ExAC_nontcga_SAS=0.6683;AF=0.5480;AF_popmax=0.7363;AF_male=0.5437;AF_female=0.5535;AF_raw=0.5474;AF_afr=0.4199;AF_sas=.;AF_amr=0.7363;AF_eas=0.3338;AF_nfe=0.6126;AF_fin=0.6082;AF_asj=0.5764;AF_oth=0.6153;non_topmed_AF_popmax=0.7413;non_neuro_AF_popmax=0.7135;non_cancer_AF_popmax=.;controls_AF_popmax=0.7114;Kaviar_AF=0.592625;Kaviar_AC=91621;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128885;ALLELE_END;VINYL_score=-1 GT 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 0|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|0 1|1 1|0 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|0 0|1 1|1 0|0 0|1 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 +12 114841589 rs145703644 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=12436;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX5:NM_000192:exon2:c.C115T:p.P39S,TBX5:NM_181486:exon2:c.C115T:p.P39S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145703644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.402;Polyphen2_HVAR_rankscore=0.486;Polyphen2_HVAR_pred=B;LRT_score=0.238;LRT_converted_rankscore=0.158;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-2.45;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.219;PROVEAN_pred=N;VEST3_score=0.406;VEST3_rankscore=0.505;MetaSVM_score=0.032;MetaSVM_rankscore=0.829;MetaSVM_pred=D;MetaLR_score=0.612;MetaLR_rankscore=0.863;MetaLR_pred=D;M-CAP_score=0.140;M-CAP_rankscore=0.823;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.798;CADD_raw_rankscore=0.793;CADD_phred=27.1;DANN_score=0.998;DANN_rankscore=0.892;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.319;Eigen-PC-raw=0.385;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.437;integrated_fitCons_score_rankscore=0.062;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=6.870;phyloP100way_vertebrate_rankscore=0.751;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.787;phastCons20way_mammalian_rankscore=0.332;SiPhy_29way_logOdds=19.204;SiPhy_29way_logOdds_rankscore=0.937;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.689e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.93e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.762e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000470627|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1820206|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.930310;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23851325 rs28488316 G A 100 PASS AC=1;AF=0.0485224;AN=214;NS=2504;DP=19074;EAS_AF=0.0159;AMR_AF=0.013;AFR_AF=0.1581;EUR_AF=0.004;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0485224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28488316;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0364;AF_popmax=0.1197;AF_male=0.0374;AF_female=0.0351;AF_raw=0.0364;AF_afr=0.1197;AF_sas=.;AF_amr=0.0083;AF_eas=0.0122;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.1197;non_neuro_AF_popmax=0.1165;non_cancer_AF_popmax=.;controls_AF_popmax=0.1222;Kaviar_AF=0.0029948;Kaviar_AC=463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23851400 rs453361 C T 100 PASS AC=30;AF=0.122005;AN=214;NS=2504;DP=16707;EAS_AF=0.0169;AMR_AF=0.0591;AFR_AF=0.3154;EUR_AF=0.1054;SAS_AF=0.0307;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs453361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1496;AF_popmax=0.2695;AF_male=0.1540;AF_female=0.1442;AF_raw=0.1500;AF_afr=0.2695;AF_sas=.;AF_amr=0.0686;AF_eas=0.0122;AF_nfe=0.1157;AF_fin=0.0911;AF_asj=0.1759;AF_oth=0.1153;non_topmed_AF_popmax=0.2687;non_neuro_AF_popmax=0.2588;non_cancer_AF_popmax=.;controls_AF_popmax=0.2608;Kaviar_AF=0.0221731;Kaviar_AC=3428;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.138258::0.365479;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23852497 rs17091278 T C 100 PASS AC=1;AF=0.0848642;AN=214;NS=2504;DP=8693;EAS_AF=0.0159;AMR_AF=0.0202;AFR_AF=0.292;EUR_AF=0.004;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon37:c.A5598G:p.L1866L;1000g2015aug_all=0.0848642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17091278;CLNALLELEID=254914;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0269;ExAC_nontcga_AFR=0.2482;ExAC_nontcga_AMR=0.0147;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0073;AF=0.0697;AF_popmax=0.2392;AF_male=0.0730;AF_female=0.0655;AF_raw=0.0705;AF_afr=0.2392;AF_sas=.;AF_amr=0.0190;AF_eas=0.0124;AF_nfe=0.0044;AF_fin=0;AF_asj=0;AF_oth=0.0233;non_topmed_AF_popmax=0.2386;non_neuro_AF_popmax=0.2279;non_cancer_AF_popmax=.;controls_AF_popmax=0.2282;Kaviar_AF=0.0258276;Kaviar_AC=3993;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.883800;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23852537 rs529785746 T G 100 PASS AC=19;AF=0.240415;AN=214;NS=2504;DP=9068;EAS_AF=0.1042;AMR_AF=0.1484;AFR_AF=0.3343;EUR_AF=0.0964;SAS_AF=0.4673;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529785746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.036;ExAC_nontcga_EAS=0.0085;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0185;ExAC_nontcga_SAS=0.0881;AF=0.0331;AF_popmax=0.0714;AF_male=0.0312;AF_female=0.0350;AF_raw=0.0013;AF_afr=0.0238;AF_sas=.;AF_amr=0.0714;AF_eas=0;AF_nfe=0.0265;AF_fin=0.0577;AF_asj=0.0556;AF_oth=0.0417;non_topmed_AF_popmax=0.0833;non_neuro_AF_popmax=0.0385;non_cancer_AF_popmax=.;controls_AF_popmax=0.0278;Kaviar_AF=0.0078071;Kaviar_AC=1207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.511401;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852541 rs546563498 A G 100 PASS AC=19;AF=0.241214;AN=214;NS=2504;DP=6884;EAS_AF=0.1062;AMR_AF=0.1499;AFR_AF=0.3351;EUR_AF=0.0964;SAS_AF=0.4673;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.241214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546563498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0041;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0.0047;ExAC_nontcga_FIN=0.0105;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0205;AF=0.0430;AF_popmax=0.0427;AF_male=0.0445;AF_female=0.0414;AF_raw=0.0016;AF_afr=0.0427;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0253;AF_fin=0.1;AF_asj=0;AF_oth=0.0714;non_topmed_AF_popmax=0.0443;non_neuro_AF_popmax=0.0257;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0078265;Kaviar_AC=1210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852545 rs566376459 T G 100 PASS AC=18;AF=0.240016;AN=214;NS=2504;DP=6871;EAS_AF=0.1042;AMR_AF=0.1499;AFR_AF=0.3336;EUR_AF=0.0924;SAS_AF=0.4693;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566376459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1058;ExAC_nontcga_AFR=0.0408;ExAC_nontcga_AMR=0.1642;ExAC_nontcga_EAS=0.1842;ExAC_nontcga_FIN=0.0399;ExAC_nontcga_NFE=0.0970;ExAC_nontcga_OTH=0.0769;ExAC_nontcga_SAS=0.25;AF=0.0355;AF_popmax=0.0556;AF_male=0.0324;AF_female=0.0391;AF_raw=0.0030;AF_afr=0.0328;AF_sas=.;AF_amr=0.0217;AF_eas=0.0556;AF_nfe=0.0224;AF_fin=0.0984;AF_asj=0;AF_oth=0.0263;non_topmed_AF_popmax=0.0556;non_neuro_AF_popmax=0.0556;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0077877;Kaviar_AC=1204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 +14 23852548 rs532816817 G A 100 PASS AC=3;AF=0.0523163;AN=214;NS=2504;DP=6879;EAS_AF=0.0179;AMR_AF=0.0403;AFR_AF=0.0809;EUR_AF=0.0149;SAS_AF=0.0961;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0523163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532816817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0016947;Kaviar_AC=262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 +14 23852550 rs552564291 G A 100 PASS AC=9;AF=0.141573;AN=214;NS=2504;DP=7418;EAS_AF=0.0823;AMR_AF=0.0879;AFR_AF=0.1876;EUR_AF=0.0527;SAS_AF=0.2699;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs552564291;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0156;ExAC_nontcga_AFR=0.0813;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.1047;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0189;ExAC_nontcga_SAS=0.0063;AF=6.561e-05;AF_popmax=0.0001;AF_male=5.916e-05;AF_female=7.365e-05;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.518e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0045989;Kaviar_AC=711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 +14 23853629 rs8006357 T C 100 PASS AC=75;AF=0.229633;AN=214;NS=2504;DP=15974;EAS_AF=0.1835;AMR_AF=0.2305;AFR_AF=0.1452;EUR_AF=0.2704;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8006357;CLNALLELEID=254915;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2644;ExAC_nontcga_ALL=0.2535;ExAC_nontcga_AFR=0.1649;ExAC_nontcga_AMR=0.1643;ExAC_nontcga_EAS=0.1857;ExAC_nontcga_FIN=0.2113;ExAC_nontcga_NFE=0.2694;ExAC_nontcga_OTH=0.2579;ExAC_nontcga_SAS=0.3594;AF=0.2137;AF_popmax=0.2396;AF_male=0.2132;AF_female=0.2142;AF_raw=0.2140;AF_afr=0.1641;AF_sas=.;AF_amr=0.2151;AF_eas=0.1848;AF_nfe=0.2396;AF_fin=0.2184;AF_asj=0.3379;AF_oth=0.2353;non_topmed_AF_popmax=0.2267;non_neuro_AF_popmax=0.2428;non_cancer_AF_popmax=.;controls_AF_popmax=0.2439;Kaviar_AF=0.2499;Kaviar_AC=38635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|1 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|0 +14 23853739 rs200260229 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17722;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon36:c.G5477A:p.G1826D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200260229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_rankscore=0.144;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_rankscore=0.212;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=-0.98;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.292;VEST3_rankscore=0.352;MetaSVM_score=-0.769;MetaSVM_rankscore=0.569;MetaSVM_pred=T;MetaLR_score=0.276;MetaLR_rankscore=0.648;MetaLR_pred=T;M-CAP_score=0.661;M-CAP_rankscore=0.972;M-CAP_pred=D;REVEL_score=0.134;REVEL_rankscore=0.369;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.468;CADD_raw_rankscore=0.239;CADD_phred=13.14;DANN_score=0.956;DANN_rankscore=0.267;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.034;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.963;Eigen-PC-raw=-0.904;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=-0.378;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=-1.375;phyloP20way_mammalian_rankscore=0.012;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.052;phastCons20way_mammalian_rankscore=0.166;SiPhy_29way_logOdds=9.578;SiPhy_29way_logOdds_rankscore=0.384;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.906427;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23853740 rs202141059 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon36:c.G5476A:p.G1826S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202141059;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.588;SIFT_converted_rankscore=0.058;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=0.03;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=-1.04;FATHMM_converted_rankscore=0.766;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.107;PROVEAN_pred=N;VEST3_score=0.217;VEST3_rankscore=0.266;MetaSVM_score=-0.979;MetaSVM_rankscore=0.352;MetaSVM_pred=T;MetaLR_score=0.194;MetaLR_rankscore=0.547;MetaLR_pred=T;M-CAP_score=0.450;M-CAP_rankscore=0.943;M-CAP_pred=D;REVEL_score=0.119;REVEL_rankscore=0.336;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.952;CADD_raw_rankscore=0.185;CADD_phred=10.38;DANN_score=0.922;DANN_rankscore=0.209;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.025;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.208;Eigen-PC-raw=-1.071;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.334;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=0.361;phyloP100way_vertebrate_rankscore=0.199;phyloP20way_mammalian=-1.375;phyloP20way_mammalian_rankscore=0.012;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.063;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=11.000;SiPhy_29way_logOdds_rankscore=0.466;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.906427;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23854155 rs8004990 G A 100 PASS AC=29;AF=0.0363419;AN=214;NS=2504;DP=18008;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0204;EUR_AF=0.1014;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon35:c.C5259T:p.A1753A;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8004990;CLNALLELEID=53699;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1158;ExAC_nontcga_ALL=0.0712;ExAC_nontcga_AFR=0.0303;ExAC_nontcga_AMR=0.0317;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0871;ExAC_nontcga_NFE=0.1045;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0372;AF=0.0794;AF_popmax=0.1116;AF_male=0.0802;AF_female=0.0783;AF_raw=0.0794;AF_afr=0.0297;AF_sas=.;AF_amr=0.0495;AF_eas=0;AF_nfe=0.1116;AF_fin=0.0915;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1047;non_neuro_AF_popmax=0.1105;non_cancer_AF_popmax=.;controls_AF_popmax=0.09;Kaviar_AF=0.0772823;Kaviar_AC=11948;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.826898;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23854272 rs178637 T C 100 PASS AC=19;AF=0.072484;AN=214;NS=2504;DP=18773;EAS_AF=0.0595;AMR_AF=0.0533;AFR_AF=0.0696;EUR_AF=0.0994;SAS_AF=0.0757;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.072484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178637;CLNALLELEID=254916;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0844;ExAC_nontcga_ALL=0.0824;ExAC_nontcga_AFR=0.0610;ExAC_nontcga_AMR=0.0273;ExAC_nontcga_EAS=0.0668;ExAC_nontcga_FIN=0.1682;ExAC_nontcga_NFE=0.0898;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0803;AF=0.0820;AF_popmax=0.0785;AF_male=0.0796;AF_female=0.0849;AF_raw=0.0822;AF_afr=0.0626;AF_sas=.;AF_amr=0.0390;AF_eas=0.0572;AF_nfe=0.0785;AF_fin=0.1647;AF_asj=0.0448;AF_oth=0.1011;non_topmed_AF_popmax=0.0792;non_neuro_AF_popmax=0.0777;non_cancer_AF_popmax=.;controls_AF_popmax=0.0806;Kaviar_AF=0.0795915;Kaviar_AC=12305;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::-0.473572;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 +14 23854324 rs178638 A G 100 PASS AC=124;AF=0.488019;AN=214;NS=2504;DP=18862;EAS_AF=0.254;AMR_AF=0.366;AFR_AF=0.7474;EUR_AF=0.4891;SAS_AF=0.4642;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.488019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178638;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5098;AF_popmax=0.6898;AF_male=0.5136;AF_female=0.5051;AF_raw=0.5099;AF_afr=0.6898;AF_sas=.;AF_amr=0.3400;AF_eas=0.2519;AF_nfe=0.4519;AF_fin=0.4778;AF_asj=0.5621;AF_oth=0.4805;non_topmed_AF_popmax=0.6897;non_neuro_AF_popmax=0.6819;non_cancer_AF_popmax=.;controls_AF_popmax=0.6854;Kaviar_AF=0.0920234;Kaviar_AC=14227;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.203124;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 +14 23855320 rs382872 G A 100 PASS AC=29;AF=0.0365415;AN=214;NS=2504;DP=21083;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0212;EUR_AF=0.1014;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.C4980T:p.D1660D;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs382872;CLNALLELEID=53695;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1159;ExAC_nontcga_ALL=0.0714;ExAC_nontcga_AFR=0.0308;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0876;ExAC_nontcga_NFE=0.1047;ExAC_nontcga_OTH=0.0879;ExAC_nontcga_SAS=0.0372;AF=0.0795;AF_popmax=0.1116;AF_male=0.0805;AF_female=0.0783;AF_raw=0.0797;AF_afr=0.0303;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.1116;AF_fin=0.0913;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1046;non_neuro_AF_popmax=0.1106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0900;Kaviar_AF=0.0777868;Kaviar_AC=12026;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.760304;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855357 rs28730764 T A 100 PASS AC=1;AF=0.0489217;AN=214;NS=2504;DP=20363;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1611;EUR_AF=0.004;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0489217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730764;CLNALLELEID=45294;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0160;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0.0175;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0070;AF=0.0356;AF_popmax=0.1165;AF_male=0.0371;AF_female=0.0337;AF_raw=0.0352;AF_afr=0.1165;AF_sas=.;AF_amr=0.0095;AF_eas=0.0124;AF_nfe=0.0042;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1117;non_cancer_AF_popmax=.;controls_AF_popmax=0.1137;Kaviar_AF=0.0153426;Kaviar_AC=2372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855478 rs396024 C G 100 PASS AC=29;AF=0.0365415;AN=214;NS=2504;DP=18091;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.0212;EUR_AF=0.1014;SAS_AF=0.0256;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs396024;CLNALLELEID=254917;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1149;ExAC_nontcga_ALL=0.0708;ExAC_nontcga_AFR=0.0309;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0864;ExAC_nontcga_NFE=0.1038;ExAC_nontcga_OTH=0.0872;ExAC_nontcga_SAS=0.0372;AF=0.0794;AF_popmax=0.1114;AF_male=0.0802;AF_female=0.0784;AF_raw=0.0795;AF_afr=0.0302;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.1114;AF_fin=0.0915;AF_asj=0.1759;AF_oth=0.0919;non_topmed_AF_popmax=0.1047;non_neuro_AF_popmax=0.1102;non_cancer_AF_popmax=.;controls_AF_popmax=0.0898;Kaviar_AF=0.0767778;Kaviar_AC=11870;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.102273::0.424886;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855511 rs28730765 C T 100 PASS AC=3;AF=0.00539137;AN=214;NS=2504;DP=18781;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.003;EUR_AF=0.0169;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730765;CLNALLELEID=45293;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0069;AF=0.0094;AF_popmax=0.0130;AF_male=0.0091;AF_female=0.0097;AF_raw=0.0094;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0130;AF_fin=0.0141;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.00967;Kaviar_AC=1495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.810167;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855569 rs178640 A G 100 PASS AC=124;AF=0.492812;AN=214;NS=2504;DP=18793;EAS_AF=0.2569;AMR_AF=0.3718;AFR_AF=0.7579;EUR_AF=0.4891;SAS_AF=0.4673;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;1000g2015aug_all=0.492812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178640;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4855;ExAC_nontcga_ALL=0.4629;ExAC_nontcga_AFR=0.7084;ExAC_nontcga_AMR=0.2596;ExAC_nontcga_EAS=0.2597;ExAC_nontcga_FIN=0.4705;ExAC_nontcga_NFE=0.4844;ExAC_nontcga_OTH=0.4438;ExAC_nontcga_SAS=0.4903;AF=0.5127;AF_popmax=0.6974;AF_male=0.5162;AF_female=0.5082;AF_raw=0.5124;AF_afr=0.6974;AF_sas=.;AF_amr=0.3472;AF_eas=0.2497;AF_nfe=0.4530;AF_fin=0.4781;AF_asj=0.5621;AF_oth=0.4806;non_topmed_AF_popmax=0.6977;non_neuro_AF_popmax=0.6916;non_cancer_AF_popmax=.;controls_AF_popmax=0.6958;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731303;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 +14 23855645 rs61742476 A G 100 PASS AC=1;AF=0.048722;AN=214;NS=2504;DP=19618;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1604;EUR_AF=0.004;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4838C:p.V1613A;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61742476;CLNALLELEID=53689;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=-2.26;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=-1.03;FATHMM_converted_rankscore=0.764;FATHMM_pred=T;PROVEAN_score=2.59;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-1.065;MetaSVM_rankscore=0.106;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.020;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.243;REVEL_rankscore=0.554;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.714;CADD_raw_rankscore=0.267;CADD_phred=14.49;DANN_score=0.872;DANN_rankscore=0.165;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.808;Eigen-PC-raw=-0.468;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.5;GERP++_RS_rankscore=0.542;phyloP100way_vertebrate=8.003;phyloP100way_vertebrate_rankscore=0.880;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=12.983;SiPhy_29way_logOdds_rankscore=0.578;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.1199;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0.0153;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0070;AF=0.0351;AF_popmax=0.1151;AF_male=0.0366;AF_female=0.0333;AF_raw=0.0353;AF_afr=0.1151;AF_sas=.;AF_amr=0.0095;AF_eas=0.0122;AF_nfe=0.0044;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1148;non_neuro_AF_popmax=0.1105;non_cancer_AF_popmax=.;controls_AF_popmax=0.1121;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.874320;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855705 rs45574136 T A 100 PASS AC=1;AF=0.0491214;AN=214;NS=2504;DP=19870;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.1604;EUR_AF=0.005;SAS_AF=0.0061;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.A4778T:p.Q1593L;1000g2015aug_all=0.0491214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45574136;CLNALLELEID=53687;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.816;SIFT_converted_rankscore=0.030;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.226;MutationTaster_pred=N;MutationAssessor_score=1.51;MutationAssessor_score_rankscore=0.383;MutationAssessor_pred=L;FATHMM_score=-1.26;FATHMM_converted_rankscore=0.792;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.061;VEST3_rankscore=0.045;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.142;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.421;CADD_raw_rankscore=0.234;CADD_phred=12.90;DANN_score=0.758;DANN_rankscore=0.108;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_rankscore=0.294;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.790;Eigen-PC-raw=-0.696;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.82;GERP++_RS_rankscore=0.241;phyloP100way_vertebrate=1.987;phyloP100way_vertebrate_rankscore=0.401;phyloP20way_mammalian=-0.763;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.914;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=10.179;SiPhy_29way_logOdds_rankscore=0.419;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0148;ExAC_nontcga_AFR=0.1176;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.0162;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0074;AF=0.0349;AF_popmax=0.1147;AF_male=0.0362;AF_female=0.0332;AF_raw=0.0351;AF_afr=0.1147;AF_sas=.;AF_amr=0.0094;AF_eas=0.0116;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.1144;non_neuro_AF_popmax=0.1100;non_cancer_AF_popmax=.;controls_AF_popmax=0.1117;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694755;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855711 rs200751434 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19588;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.A4772G:p.N1591S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200751434;CLNALLELEID=53686;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.029;SIFT_converted_rankscore=0.457;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.916;Polyphen2_HVAR_rankscore=0.634;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-1.22;FATHMM_converted_rankscore=0.788;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.640;PROVEAN_pred=D;VEST3_score=0.244;VEST3_rankscore=0.298;MetaSVM_score=0.143;MetaSVM_rankscore=0.849;MetaSVM_pred=D;MetaLR_score=0.539;MetaLR_rankscore=0.830;MetaLR_pred=D;M-CAP_score=0.067;M-CAP_rankscore=0.703;M-CAP_pred=D;REVEL_score=0.596;REVEL_rankscore=0.842;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.594;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.942;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.687;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.465;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.26;GERP++_RS_rankscore=0.497;phyloP100way_vertebrate=6.196;phyloP100way_vertebrate_rankscore=0.718;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=13.679;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.591e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.567e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896955;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23855849 rs2071634 C T 100 PASS AC=74;AF=0.235224;AN=214;NS=2504;DP=16038;EAS_AF=0.1756;AMR_AF=0.2334;AFR_AF=0.1679;EUR_AF=0.2684;SAS_AF=0.3548;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.235224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071634;CLNALLELEID=254918;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2634;ExAC_nontcga_ALL=0.2539;ExAC_nontcga_AFR=0.1859;ExAC_nontcga_AMR=0.1633;ExAC_nontcga_EAS=0.1738;ExAC_nontcga_FIN=0.2112;ExAC_nontcga_NFE=0.2698;ExAC_nontcga_OTH=0.2592;ExAC_nontcga_SAS=0.3763;AF=0.2190;AF_popmax=0.2390;AF_male=0.2182;AF_female=0.2201;AF_raw=0.2190;AF_afr=0.1850;AF_sas=.;AF_amr=0.2156;AF_eas=0.1795;AF_nfe=0.2390;AF_fin=0.2181;AF_asj=0.3379;AF_oth=0.2389;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.2418;non_cancer_AF_popmax=.;controls_AF_popmax=0.2398;Kaviar_AF=0.247021;Kaviar_AC=38190;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.350017;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|0 +14 23856714 rs45536340 G A 100 PASS AC=14;AF=0.019369;AN=214;NS=2504;DP=18261;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45536340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0417;ExAC_nontcga_ALL=0.0308;ExAC_nontcga_AFR=0.0061;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0214;ExAC_nontcga_NFE=0.0413;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0358;AF=0.0219;AF_popmax=0.0334;AF_male=0.0227;AF_female=0.0210;AF_raw=0.0220;AF_afr=0.0036;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0334;AF_fin=0.0196;AF_asj=0.0793;AF_oth=0.0230;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0303489;Kaviar_AC=4692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23856861 rs34855944 C T 100 PASS AC=1;AF=0.0325479;AN=214;NS=2504;DP=17349;EAS_AF=0.0149;AMR_AF=0.0058;AFR_AF=0.1029;EUR_AF=0.004;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon32:c.G4527A:p.E1509E;1000g2015aug_all=0.0325479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34855944;CLNALLELEID=53682;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0269;dbscSNV_RF_SCORE=0.166;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0807;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0059;AF=0.0239;AF_popmax=0.0749;AF_male=0.0245;AF_female=0.0230;AF_raw=0.0239;AF_afr=0.0749;AF_sas=.;AF_amr=0.0071;AF_eas=0.0116;AF_nfe=0.0043;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0748;non_neuro_AF_popmax=0.0726;non_cancer_AF_popmax=.;controls_AF_popmax=0.0742;Kaviar_AF=0.0112806;Kaviar_AC=1744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.643398;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23856896 rs178642 A G 100 PASS AC=96;AF=0.471645;AN=214;NS=2504;DP=17111;EAS_AF=0.6062;AMR_AF=0.536;AFR_AF=0.41;EUR_AF=0.4831;SAS_AF=0.3589;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs178642;CLNALLELEID=254919;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4965;ExAC_nontcga_ALL=0.4957;ExAC_nontcga_AFR=0.4148;ExAC_nontcga_AMR=0.5647;ExAC_nontcga_EAS=0.6298;ExAC_nontcga_FIN=0.5787;ExAC_nontcga_NFE=0.4970;ExAC_nontcga_OTH=0.5274;ExAC_nontcga_SAS=0.3904;AF=0.4918;AF_popmax=0.6273;AF_male=0.4936;AF_female=0.4896;AF_raw=0.4911;AF_afr=0.4168;AF_sas=.;AF_amr=0.5118;AF_eas=0.6273;AF_nfe=0.5002;AF_fin=0.5662;AF_asj=0.5451;AF_oth=0.5111;non_topmed_AF_popmax=0.6310;non_neuro_AF_popmax=0.6273;non_cancer_AF_popmax=.;controls_AF_popmax=0.6322;Kaviar_AF=0.490039;Kaviar_AC=75761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 1|1 1|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 +14 23857100 rs141811321 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17643;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon31:c.G4392A:p.E1464E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141811321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848252;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23857351 rs8022522 G A 100 PASS AC=95;AF=0.419728;AN=214;NS=2504;DP=18004;EAS_AF=0.1548;AMR_AF=0.2939;AFR_AF=0.7995;EUR_AF=0.3638;SAS_AF=0.3262;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.419728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8022522;CLNALLELEID=53677;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3660;ExAC_nontcga_ALL=0.3523;ExAC_nontcga_AFR=0.7403;ExAC_nontcga_AMR=0.2157;ExAC_nontcga_EAS=0.1614;ExAC_nontcga_FIN=0.2676;ExAC_nontcga_NFE=0.3588;ExAC_nontcga_OTH=0.3256;ExAC_nontcga_SAS=0.3365;AF=0.4347;AF_popmax=0.7281;AF_male=0.4431;AF_female=0.4241;AF_raw=0.4345;AF_afr=0.7281;AF_sas=.;AF_amr=0.2972;AF_eas=0.1532;AF_nfe=0.3462;AF_fin=0.2742;AF_asj=0.4621;AF_oth=0.3582;non_topmed_AF_popmax=0.7277;non_neuro_AF_popmax=0.7203;non_cancer_AF_popmax=.;controls_AF_popmax=0.7260;Kaviar_AF=0.346321;Kaviar_AC=53542;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.733952;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 0|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 0|1 1|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23858008 rs573774113 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573774113;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0017;AF_popmax=0.0035;AF_male=0.0014;AF_female=0.0019;AF_raw=0.0017;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.045804;ALLELE_END;VINYL_score=3 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23858232 rs451794 C T 100 PASS AC=30;AF=0.0347444;AN=214;NS=2504;DP=14843;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.0083;EUR_AF=0.1064;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.G4011A:p.S1337S;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs451794;CLNALLELEID=53668;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1172;ExAC_nontcga_ALL=0.0726;ExAC_nontcga_AFR=0.0219;ExAC_nontcga_AMR=0.0379;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0816;ExAC_nontcga_NFE=0.1078;ExAC_nontcga_OTH=0.0877;ExAC_nontcga_SAS=0.0382;AF=0.0795;AF_popmax=0.1168;AF_male=0.0808;AF_female=0.0779;AF_raw=0.0796;AF_afr=0.0228;AF_sas=.;AF_amr=0.0557;AF_eas=0;AF_nfe=0.1168;AF_fin=0.0858;AF_asj=0.1897;AF_oth=0.0911;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1161;non_cancer_AF_popmax=.;controls_AF_popmax=0.0966;Kaviar_AF=0.0789964;Kaviar_AC=12213;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.111742::0.430355;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902271;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23858275 rs200618133 G C 100 PASS AC=1;AF=0.0279553;AN=214;NS=2504;DP=14755;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.0953;EUR_AF=0.004;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200618133;CLNALLELEID=328943;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.026;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0862;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0015;AF=0.0268;AF_popmax=0.0798;AF_male=0.0272;AF_female=0.0264;AF_raw=0.0269;AF_afr=0.0798;AF_sas=.;AF_amr=0.0178;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.0797;non_neuro_AF_popmax=0.0813;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.011203;Kaviar_AC=1732;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.665719;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23858697 rs34935550 C G 100 PASS AC=3;AF=0.00419329;AN=214;NS=2504;DP=16922;EAS_AF=0.0139;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon28:c.G3883C:p.E1295Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34935550;CLNALLELEID=53659;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.952;Polyphen2_HVAR_rankscore=0.674;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.02;MutationAssessor_score_rankscore=0.865;MutationAssessor_pred=M;FATHMM_score=-1.55;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-2.12;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.355;VEST3_rankscore=0.417;MetaSVM_score=0.499;MetaSVM_rankscore=0.905;MetaSVM_pred=D;MetaLR_score=0.623;MetaLR_rankscore=0.867;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.768;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.301;CADD_raw_rankscore=0.870;CADD_phred=29.1;DANN_score=0.999;DANN_rankscore=0.936;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.863;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=7.764;phyloP100way_vertebrate_rankscore=0.840;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.902;phastCons20way_mammalian_rankscore=0.382;SiPhy_29way_logOdds=17.870;SiPhy_29way_logOdds_rankscore=0.887;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0173;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0024;AF=0.0022;AF_popmax=0.0128;AF_male=0.0021;AF_female=0.0022;AF_raw=0.0022;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0.0128;AF_nfe=0.0026;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0125;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898914;ALLELE_END;VINYL_score=13 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23859551 rs564367705 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17363;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.C3447G:p.S1149R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564367705;CLNALLELEID=497446;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-1.23;FATHMM_converted_rankscore=0.789;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.655;PROVEAN_pred=D;VEST3_score=0.73;VEST3_rankscore=0.728;MetaSVM_score=0.181;MetaSVM_rankscore=0.856;MetaSVM_pred=D;MetaLR_score=0.624;MetaLR_rankscore=0.868;MetaLR_pred=D;M-CAP_score=0.573;M-CAP_rankscore=0.962;M-CAP_pred=D;REVEL_score=0.666;REVEL_rankscore=0.877;MutPred_score=0.608;MutPred_rankscore=0.741;CADD_raw=5.232;CADD_raw_rankscore=0.707;CADD_phred=25.6;DANN_score=0.998;DANN_rankscore=0.843;fathmm-MKL_coding_score=0.446;fathmm-MKL_coding_rankscore=0.271;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.178;Eigen-PC-raw=-0.033;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.134;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-1.18;GERP++_RS_rankscore=0.091;phyloP100way_vertebrate=-0.486;phyloP100way_vertebrate_rankscore=0.065;phyloP20way_mammalian=-0.106;phyloP20way_mammalian_rankscore=0.116;phastCons100way_vertebrate=0.039;phastCons100way_vertebrate_rankscore=0.207;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=10.074;SiPhy_29way_logOdds_rankscore=0.413;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932802;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23859610 rs28730771 C T 100 PASS AC=35;AF=0.0728834;AN=214;NS=2504;DP=17242;EAS_AF=0.0605;AMR_AF=0.121;AFR_AF=0.0098;EUR_AF=0.1352;SAS_AF=0.0726;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.G3388A:p.A1130T;1000g2015aug_all=0.0728834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730771;CLNALLELEID=53650;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.713;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.004;MutationTaster_converted_rankscore=0.431;MutationTaster_pred=P;MutationAssessor_score=2.01;MutationAssessor_score_rankscore=0.549;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_converted_rankscore=0.827;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.275;VEST3_rankscore=0.333;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.036;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.402;REVEL_rankscore=0.719;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.149;CADD_raw_rankscore=0.695;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.959;fathmm-MKL_coding_score=0.644;fathmm-MKL_coding_rankscore=0.321;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.116;Eigen-PC-raw=0.050;GenoCanyon_score=0.544;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=0.899;phyloP100way_vertebrate_rankscore=0.279;phyloP20way_mammalian=0.013;phyloP20way_mammalian_rankscore=0.140;phastCons100way_vertebrate=0.230;phastCons100way_vertebrate_rankscore=0.244;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=9.869;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0982;ExAC_nontcga_AFR=0.0255;ExAC_nontcga_AMR=0.0992;ExAC_nontcga_EAS=0.0759;ExAC_nontcga_FIN=0.0931;ExAC_nontcga_NFE=0.1203;ExAC_nontcga_OTH=0.0987;ExAC_nontcga_SAS=0.0716;AF=0.0817;AF_popmax=0.1179;AF_male=0.0804;AF_female=0.0834;AF_raw=0.0826;AF_afr=0.0253;AF_sas=.;AF_amr=0.1179;AF_eas=0.0580;AF_nfe=0.1119;AF_fin=0.0893;AF_asj=0.0868;AF_oth=0.0875;non_topmed_AF_popmax=0.1169;non_neuro_AF_popmax=0.1314;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.091894;Kaviar_AC=14207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917217;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 +14 23859714 rs112405990 C T 100 PASS AC=10;AF=0.0992412;AN=214;NS=2504;DP=18759;EAS_AF=0;AMR_AF=0.0403;AFR_AF=0.2723;EUR_AF=0.0606;SAS_AF=0.0491;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0992412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112405990;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1149;AF_popmax=0.2483;AF_male=0.1172;AF_female=0.1121;AF_raw=0.1150;AF_afr=0.2483;AF_sas=.;AF_amr=0.0425;AF_eas=0;AF_nfe=0.0678;AF_fin=0.0706;AF_asj=0.0655;AF_oth=0.0930;non_topmed_AF_popmax=0.2496;non_neuro_AF_popmax=0.2470;non_cancer_AF_popmax=.;controls_AF_popmax=0.2564;Kaviar_AF=0.0139325;Kaviar_AC=2154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.029449;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23861811 rs365990 A G 100 PASS AC=87;AF=0.3748;AN=214;NS=2504;DP=19097;EAS_AF=0.1597;AMR_AF=0.2925;AFR_AF=0.6437;EUR_AF=0.3489;SAS_AF=0.318;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;1000g2015aug_all=0.3748;GWAS=rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201;ORegAnno_REGULATORY_P=rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201;avsnp150=rs365990;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.81;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_converted_rankscore=0.754;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.021;VEST3_rankscore=0.005;MetaSVM_score=-0.949;MetaSVM_rankscore=0.412;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.146;REVEL_rankscore=0.393;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.873;CADD_raw_rankscore=0.177;CADD_phred=9.908;DANN_score=0.808;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.023;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.022;Eigen-PC-raw=-0.808;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.328;integrated_fitCons_score=0.422;integrated_fitCons_score_rankscore=0.057;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=3.368;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.080;phyloP20way_mammalian_rankscore=0.190;phastCons100way_vertebrate=0.841;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=9.475;SiPhy_29way_logOdds_rankscore=0.378;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3737;ExAC_nontcga_ALL=0.3406;ExAC_nontcga_AFR=0.6295;ExAC_nontcga_AMR=0.2167;ExAC_nontcga_EAS=0.1643;ExAC_nontcga_FIN=0.2713;ExAC_nontcga_NFE=0.3613;ExAC_nontcga_OTH=0.3357;ExAC_nontcga_SAS=0.3096;AF=0.4183;AF_popmax=0.6317;AF_male=0.4239;AF_female=0.4114;AF_raw=0.4178;AF_afr=0.6317;AF_sas=.;AF_amr=0.2867;AF_eas=0.1596;AF_nfe=0.3666;AF_fin=0.2777;AF_asj=0.4861;AF_oth=0.3555;non_topmed_AF_popmax=0.6318;non_neuro_AF_popmax=0.6266;non_cancer_AF_popmax=.;controls_AF_popmax=0.6285;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907217;ALLELE_END;VINYL_score=2.5 GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 0|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|1 1|1 0|0 +14 23862710 rs145274612 C T 100 PASS AC=2;AF=0.00419329;AN=214;NS=2504;DP=22617;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon23:c.G2946A:p.E982E;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145274612;CLNALLELEID=53642;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0349;ExAC_nontcga_NFE=0.0131;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0020;AF=0.0124;AF_popmax=0.0147;AF_male=0.0106;AF_female=0.0147;AF_raw=0.0124;AF_afr=0.0021;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0316;AF_asj=0.0345;AF_oth=0.0193;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0096506;Kaviar_AC=1492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934523;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23862783 rs554381670 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21854;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554381670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23862785 rs574444606 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21745;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574444606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23863152 rs28730773 A G 100 PASS AC=4;AF=0.0585064;AN=214;NS=2504;DP=21056;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1846;EUR_AF=0.0139;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0585064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730773;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0270;ExAC_nontcga_AFR=0.1633;ExAC_nontcga_AMR=0.0230;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0299;AF=0.0483;AF_popmax=0.1562;AF_male=0.0502;AF_female=0.0459;AF_raw=0.0484;AF_afr=0.1562;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0006;AF_asj=0.0241;AF_oth=0.0203;non_topmed_AF_popmax=0.1562;non_neuro_AF_popmax=0.1496;non_cancer_AF_popmax=.;controls_AF_popmax=0.1519;Kaviar_AF=0.0257435;Kaviar_AC=3980;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.127534;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 +14 23863247 rs574632194 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19558;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574632194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23865885 rs452036 G A 100 PASS AC=84;AF=0.367812;AN=214;NS=2504;DP=21790;EAS_AF=0.1577;AMR_AF=0.2839;AFR_AF=0.6362;EUR_AF=0.336;SAS_AF=0.3139;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.367812;GWAS=rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448;ORegAnno_REGULATORY_P=rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448;avsnp150=rs452036;CLNALLELEID=254920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3628;ExAC_nontcga_ALL=0.3330;ExAC_nontcga_AFR=0.6229;ExAC_nontcga_AMR=0.2084;ExAC_nontcga_EAS=0.1607;ExAC_nontcga_FIN=0.2711;ExAC_nontcga_NFE=0.3525;ExAC_nontcga_OTH=0.3357;ExAC_nontcga_SAS=0.3005;AF=0.4126;AF_popmax=0.6288;AF_male=0.4178;AF_female=0.4062;AF_raw=0.4126;AF_afr=0.6288;AF_sas=.;AF_amr=0.2754;AF_eas=0.1532;AF_nfe=0.3590;AF_fin=0.2734;AF_asj=0.4793;AF_oth=0.3474;non_topmed_AF_popmax=0.6287;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6252;Kaviar_AF=0.339006;Kaviar_AC=52411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23866146 rs148225043 G C 100 PASS AC=11;AF=0.0325479;AN=214;NS=2504;DP=21261;EAS_AF=0.0685;AMR_AF=0.0303;AFR_AF=0.0038;EUR_AF=0.0179;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0325479;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148225043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0241;ExAC_nontcga_AFR=0.0041;ExAC_nontcga_AMR=0.0399;ExAC_nontcga_EAS=0.0846;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0339;AF=0.0121;AF_popmax=0.0776;AF_male=0.0132;AF_female=0.0107;AF_raw=0.0121;AF_afr=0.0032;AF_sas=.;AF_amr=0.0318;AF_eas=0.0776;AF_nfe=0.0099;AF_fin=0.0075;AF_asj=0.0345;AF_oth=0.0138;non_topmed_AF_popmax=0.0756;non_neuro_AF_popmax=0.0776;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.0213257;Kaviar_AC=3297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23866189 rs76202964 G A 100 PASS AC=11;AF=0.0339457;AN=214;NS=2504;DP=21958;EAS_AF=0.0694;AMR_AF=0.0303;AFR_AF=0.0076;EUR_AF=0.0189;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;1000g2015aug_all=0.0339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76202964;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0245;ExAC_nontcga_AFR=0.0076;ExAC_nontcga_AMR=0.0405;ExAC_nontcga_EAS=0.0846;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0339;AF=0.0130;AF_popmax=0.0769;AF_male=0.0140;AF_female=0.0118;AF_raw=0.0130;AF_afr=0.0063;AF_sas=.;AF_amr=0.0318;AF_eas=0.0769;AF_nfe=0.0100;AF_fin=0.0075;AF_asj=0.0345;AF_oth=0.0147;non_topmed_AF_popmax=0.0749;non_neuro_AF_popmax=0.0769;non_cancer_AF_popmax=.;controls_AF_popmax=0.0830;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914829;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23866713 rs412768 A G 100 PASS AC=73;AF=0.30651;AN=214;NS=2504;DP=19307;EAS_AF=0.1607;AMR_AF=0.2493;AFR_AF=0.4743;EUR_AF=0.2883;SAS_AF=0.2894;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.30651;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs412768;CLNALLELEID=254921;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3187;ExAC_nontcga_ALL=0.2925;ExAC_nontcga_AFR=0.4723;ExAC_nontcga_AMR=0.1757;ExAC_nontcga_EAS=0.1631;ExAC_nontcga_FIN=0.2627;ExAC_nontcga_NFE=0.3140;ExAC_nontcga_OTH=0.3055;ExAC_nontcga_SAS=0.2753;AF=0.3510;AF_popmax=0.4836;AF_male=0.3533;AF_female=0.3480;AF_raw=0.3511;AF_afr=0.4836;AF_sas=.;AF_amr=0.2335;AF_eas=0.1566;AF_nfe=0.3235;AF_fin=0.2641;AF_asj=0.4345;AF_oth=0.3076;non_topmed_AF_popmax=0.4832;non_neuro_AF_popmax=0.4849;non_cancer_AF_popmax=.;controls_AF_popmax=0.4828;Kaviar_AF=0.291173;Kaviar_AC=45016;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.363987;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 0|1 0|0 +14 23866872 rs201845555 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19704;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201845555;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0008;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0026;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23866925 rs28730775 G C 100 PASS AC=3;AF=0.0499201;AN=214;NS=2504;DP=18646;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1528;EUR_AF=0.0129;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0369;AF_popmax=0.1177;AF_male=0.0383;AF_female=0.0353;AF_raw=0.0371;AF_afr=0.1177;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0006;AF_asj=0.0241;AF_oth=0.0193;non_topmed_AF_popmax=0.1174;non_neuro_AF_popmax=0.1150;non_cancer_AF_popmax=.;controls_AF_popmax=0.1175;Kaviar_AF=0.0038098;Kaviar_AC=589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23868285 rs439735 G A 100 PASS AC=64;AF=0.16873;AN=214;NS=2504;DP=19054;EAS_AF=0.0734;AMR_AF=0.1614;AFR_AF=0.1778;EUR_AF=0.2485;SAS_AF=0.1779;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.16873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs439735;CLNALLELEID=254922;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2597;ExAC_nontcga_ALL=0.2098;ExAC_nontcga_AFR=0.1848;ExAC_nontcga_AMR=0.1133;ExAC_nontcga_EAS=0.0631;ExAC_nontcga_FIN=0.2207;ExAC_nontcga_NFE=0.2591;ExAC_nontcga_OTH=0.2108;ExAC_nontcga_SAS=0.1923;AF=0.2252;AF_popmax=0.2597;AF_male=0.2220;AF_female=0.2292;AF_raw=0.2255;AF_afr=0.1952;AF_sas=.;AF_amr=0.1604;AF_eas=0.0668;AF_nfe=0.2597;AF_fin=0.2221;AF_asj=0.3552;AF_oth=0.2306;non_topmed_AF_popmax=0.2485;non_neuro_AF_popmax=0.2571;non_cancer_AF_popmax=.;controls_AF_popmax=0.2330;Kaviar_AF=0.211808;Kaviar_AC=32746;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23869665 rs577792124 CA C 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21836;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0031;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577792124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0134;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0032;AF=0.0072;AF_popmax=0.0153;AF_male=0.0068;AF_female=0.0077;AF_raw=0.0072;AF_afr=0.0017;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0124;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.904842;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +14 23869993 rs61731179 G A 100 PASS AC=26;AF=0.0321486;AN=214;NS=2504;DP=21394;EAS_AF=0;AMR_AF=0.0403;AFR_AF=0.0023;EUR_AF=0.0755;SAS_AF=0.0552;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon13:c.C1335T:p.N445N;1000g2015aug_all=0.0321486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731179;CLNALLELEID=53618;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0620;ExAC_nontcga_ALL=0.0550;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.0309;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0404;ExAC_nontcga_NFE=0.0688;ExAC_nontcga_OTH=0.0476;ExAC_nontcga_SAS=0.0834;AF=0.0394;AF_popmax=0.0556;AF_male=0.0394;AF_female=0.0395;AF_raw=0.0394;AF_afr=0.0111;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0556;AF_fin=0.0455;AF_asj=0.0862;AF_oth=0.0691;non_topmed_AF_popmax=0.0547;non_neuro_AF_popmax=0.0556;non_cancer_AF_popmax=.;controls_AF_popmax=0.0519;Kaviar_AF=0.0529877;Kaviar_AC=8192;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865212;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 +14 23871753 rs201375441 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon12:c.C1061T:p.T354M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201375441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.881;Polyphen2_HVAR_rankscore=0.608;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_score_rankscore=0.304;MutationAssessor_pred=L;FATHMM_score=-2.24;FATHMM_converted_rankscore=0.872;FATHMM_pred=D;PROVEAN_score=-3.57;PROVEAN_converted_rankscore=0.690;PROVEAN_pred=D;VEST3_score=0.728;VEST3_rankscore=0.727;MetaSVM_score=0.615;MetaSVM_rankscore=0.921;MetaSVM_pred=D;MetaLR_score=0.738;MetaLR_rankscore=0.911;MetaLR_pred=D;M-CAP_score=0.165;M-CAP_rankscore=0.844;M-CAP_pred=D;REVEL_score=0.731;REVEL_rankscore=0.907;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.859;CADD_raw_rankscore=0.652;CADD_phred=24.9;DANN_score=0.998;DANN_rankscore=0.907;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.510;Eigen-PC-raw=0.453;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.82;GERP++_RS_rankscore=0.430;phyloP100way_vertebrate=6.535;phyloP100way_vertebrate_rankscore=0.736;phyloP20way_mammalian=0.982;phyloP20way_mammalian_rankscore=0.598;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=15.063;SiPhy_29way_logOdds_rankscore=0.715;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.894652;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23871840 rs45466392 G T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=14998;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45466392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0021;AF=0.0037;AF_popmax=0.0059;AF_male=0.0037;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45466392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0021;AF=0.0037;AF_popmax=0.0059;AF_male=0.0037;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0029;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0046248;Kaviar_AC=715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23871909 rs78107039 G A 100 PASS AC=3;AF=0.0423323;AN=214;NS=2504;DP=14970;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1256;EUR_AF=0.0129;SAS_AF=0.0266;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.C999T:p.T333T;1000g2015aug_all=0.0423323;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78107039;CLNALLELEID=45296;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0204;ExAC_nontcga_AFR=0.1054;ExAC_nontcga_AMR=0.0186;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0263;AF=0.0296;AF_popmax=0.0924;AF_male=0.0307;AF_female=0.0282;AF_raw=0.0300;AF_afr=0.0924;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0003;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0922;non_neuro_AF_popmax=0.0891;non_cancer_AF_popmax=.;controls_AF_popmax=0.0876;Kaviar_AF=0.0195728;Kaviar_AC=3026;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.812513;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +14 23871999 rs17091623 C T 100 PASS AC=2;AF=0.0311502;AN=214;NS=2504;DP=14917;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1021;EUR_AF=0.002;SAS_AF=0.0102;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.G909A:p.L303L;1000g2015aug_all=0.0311502;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17091623;CLNALLELEID=53713;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0932;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0081;AF=0.0249;AF_popmax=0.0869;AF_male=0.0256;AF_female=0.0240;AF_raw=0.0251;AF_afr=0.0869;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0035;AF_oth=0.0046;non_topmed_AF_popmax=0.0870;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0872;Kaviar_AF=0.0091137;Kaviar_AC=1409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875589;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23872666 rs434273 T C 100 PASS AC=159;AF=0.784944;AN=214;NS=2504;DP=17979;EAS_AF=0.6617;AMR_AF=0.7853;AFR_AF=0.9841;EUR_AF=0.7505;SAS_AF=0.6779;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.784944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs434273;CLNALLELEID=53711;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7680;ExAC_nontcga_ALL=0.7535;ExAC_nontcga_AFR=0.9519;ExAC_nontcga_AMR=0.7146;ExAC_nontcga_EAS=0.6830;ExAC_nontcga_FIN=0.7585;ExAC_nontcga_NFE=0.7616;ExAC_nontcga_OTH=0.7925;ExAC_nontcga_SAS=0.6740;AF=0.8067;AF_popmax=0.9513;AF_male=0.8095;AF_female=0.8032;AF_raw=0.8057;AF_afr=0.9513;AF_sas=.;AF_amr=0.7453;AF_eas=0.6432;AF_nfe=0.7590;AF_fin=0.7565;AF_asj=0.8517;AF_oth=0.7532;non_topmed_AF_popmax=0.9514;non_neuro_AF_popmax=0.9518;non_cancer_AF_popmax=.;controls_AF_popmax=0.9510;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.013707;ALLELE_END;VINYL_score=2 GT 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 +14 23873021 rs11850295 C T 100 PASS AC=9;AF=0.0455272;AN=214;NS=2504;DP=19448;EAS_AF=0.002;AMR_AF=0.036;AFR_AF=0.1188;EUR_AF=0.0368;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0455272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11850295;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0364;ExAC_nontcga_ALL=0.0369;ExAC_nontcga_AFR=0.1416;ExAC_nontcga_AMR=0.0251;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0105;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0075;AF=0.0484;AF_popmax=0.1124;AF_male=0.0497;AF_female=0.0467;AF_raw=0.0487;AF_afr=0.1124;AF_sas=.;AF_amr=0.0295;AF_eas=0.0006;AF_nfe=0.0299;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.1130;non_neuro_AF_popmax=0.1107;non_cancer_AF_popmax=.;controls_AF_popmax=0.1122;Kaviar_AF=0.0289194;Kaviar_AC=4471;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.029508;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23873056 rs191670514 A C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18830;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191670514;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0030;AF_popmax=0.0047;AF_male=0.0030;AF_female=0.0030;AF_raw=0.0030;AF_afr=0.0008;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0081;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.253559;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23873092 rs388914 G A 100 PASS AC=61;AF=0.159145;AN=214;NS=2504;DP=19989;EAS_AF=0.0655;AMR_AF=0.1527;AFR_AF=0.1611;EUR_AF=0.2455;SAS_AF=0.1687;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.159145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs388914;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2243;AF_popmax=0.2564;AF_male=0.2228;AF_female=0.2262;AF_raw=0.2244;AF_afr=0.2025;AF_sas=.;AF_amr=0.1533;AF_eas=0.0520;AF_nfe=0.2564;AF_fin=0.2184;AF_asj=0.3552;AF_oth=0.2302;non_topmed_AF_popmax=0.2469;non_neuro_AF_popmax=0.2536;non_cancer_AF_popmax=.;controls_AF_popmax=0.2337;Kaviar_AF=0.0366425;Kaviar_AC=5665;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23873940 rs142027794 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=21577;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon7:c.G622A:p.D208N;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142027794;CLNALLELEID=53708;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_rankscore=0.256;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.386;MutationTaster_pred=D;MutationAssessor_score=1.32;MutationAssessor_score_rankscore=0.331;MutationAssessor_pred=L;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.713;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_converted_rankscore=0.316;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.796;MetaSVM_rankscore=0.554;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_rankscore=0.481;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.529;M-CAP_pred=D;REVEL_score=0.076;REVEL_rankscore=0.227;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.478;CADD_raw_rankscore=0.476;CADD_phred=23.1;DANN_score=0.998;DANN_rankscore=0.904;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_rankscore=0.372;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.266;Eigen-PC-raw=-0.120;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=3.040;phyloP100way_vertebrate_rankscore=0.492;phyloP20way_mammalian=0.794;phyloP20way_mammalian_rankscore=0.322;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.909;SiPhy_29way_logOdds_rankscore=0.632;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0042;AF=0.0037;AF_popmax=0.0060;AF_male=0.0040;AF_female=0.0034;AF_raw=0.0037;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0053686;Kaviar_AC=830;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923043;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23874364 rs202054405 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19403;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.2e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202054405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.2e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23874507 rs2277473 G T 100 PASS AC=27;AF=0.0776757;AN=214;NS=2504;DP=18374;EAS_AF=0.0675;AMR_AF=0.085;AFR_AF=0.0129;EUR_AF=0.1044;SAS_AF=0.1431;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.C427A:p.R143R;1000g2015aug_all=0.0776757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277473;CLNALLELEID=53674;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1095;ExAC_nontcga_ALL=0.0949;ExAC_nontcga_AFR=0.0200;ExAC_nontcga_AMR=0.0607;ExAC_nontcga_EAS=0.0533;ExAC_nontcga_FIN=0.0920;ExAC_nontcga_NFE=0.1056;ExAC_nontcga_OTH=0.0865;ExAC_nontcga_SAS=0.1458;AF=0.0741;AF_popmax=0.0995;AF_male=0.0707;AF_female=0.0783;AF_raw=0.0741;AF_afr=0.0216;AF_sas=.;AF_amr=0.0767;AF_eas=0.0514;AF_nfe=0.0995;AF_fin=0.0910;AF_asj=0.1414;AF_oth=0.0928;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.0985;non_cancer_AF_popmax=.;controls_AF_popmax=0.0937;Kaviar_AF=0.0926443;Kaviar_AC=14323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918043;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23874523 rs2277474 C T 100 PASS AC=61;AF=0.154353;AN=214;NS=2504;DP=18207;EAS_AF=0.0675;AMR_AF=0.1513;AFR_AF=0.1384;EUR_AF=0.2485;SAS_AF=0.1708;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G411A:p.E137E;1000g2015aug_all=0.154353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277474;CLNALLELEID=53671;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2608;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.1596;ExAC_nontcga_AMR=0.1116;ExAC_nontcga_EAS=0.0533;ExAC_nontcga_FIN=0.2141;ExAC_nontcga_NFE=0.2609;ExAC_nontcga_OTH=0.2061;ExAC_nontcga_SAS=0.1859;AF=0.2180;AF_popmax=0.2605;AF_male=0.2158;AF_female=0.2209;AF_raw=0.2179;AF_afr=0.1723;AF_sas=.;AF_amr=0.1521;AF_eas=0.0515;AF_nfe=0.2605;AF_fin=0.2203;AF_asj=0.3576;AF_oth=0.2274;non_topmed_AF_popmax=0.2512;non_neuro_AF_popmax=0.2575;non_cancer_AF_popmax=.;controls_AF_popmax=0.2370;Kaviar_AF=0.209881;Kaviar_AC=32448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885635;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 +14 23874541 rs17277970 C T 100 PASS AC=9;AF=0.0571086;AN=214;NS=2504;DP=18562;EAS_AF=0.0179;AMR_AF=0.0562;AFR_AF=0.0552;EUR_AF=0.0696;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;1000g2015aug_all=0.0571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17277970;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0884;ExAC_nontcga_ALL=0.0679;ExAC_nontcga_AFR=0.0605;ExAC_nontcga_AMR=0.0389;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0.0487;ExAC_nontcga_NFE=0.0805;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0829;AF=0.0708;AF_popmax=0.0858;AF_male=0.0697;AF_female=0.0722;AF_raw=0.0709;AF_afr=0.0648;AF_sas=.;AF_amr=0.0578;AF_eas=0.0103;AF_nfe=0.0858;AF_fin=0.0480;AF_asj=0.0862;AF_oth=0.0726;non_topmed_AF_popmax=0.0860;non_neuro_AF_popmax=0.0857;non_cancer_AF_popmax=.;controls_AF_popmax=0.0843;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927291;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23874851 rs77679218 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19293;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon4:c.G330A:p.A110A;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77679218;CLNALLELEID=53648;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0001;AF=0.0048;AF_popmax=0.0072;AF_male=0.0045;AF_female=0.0052;AF_raw=0.0048;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900130;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23876216 rs7147244 G A 100 PASS AC=9;AF=0.0497204;AN=214;NS=2504;DP=18861;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.1369;EUR_AF=0.0368;SAS_AF=0.0061;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0497204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7147244;CLNALLELEID=254923;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0364;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.1391;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0289;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0062;AF=0.0546;AF_popmax=0.1343;AF_male=0.0565;AF_female=0.0522;AF_raw=0.0547;AF_afr=0.1343;AF_sas=.;AF_amr=0.0295;AF_eas=0.0006;AF_nfe=0.0301;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.1349;non_neuro_AF_popmax=0.1350;non_cancer_AF_popmax=.;controls_AF_popmax=0.1358;Kaviar_AF=0.0310992;Kaviar_AC=4808;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23876267 rs28711516 C T 100 PASS AC=9;AF=0.0567093;AN=214;NS=2504;DP=20347;EAS_AF=0.0179;AMR_AF=0.0562;AFR_AF=0.0545;EUR_AF=0.0696;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28711516;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_rankscore=0.666;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.504;MutationTaster_pred=D;MutationAssessor_score=3.905;MutationAssessor_score_rankscore=0.962;MutationAssessor_pred=H;FATHMM_score=-2.18;FATHMM_converted_rankscore=0.867;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_converted_rankscore=0.803;PROVEAN_pred=D;VEST3_score=0.158;VEST3_rankscore=0.189;MetaSVM_score=-0.339;MetaSVM_rankscore=0.739;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.560;REVEL_rankscore=0.822;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.156;CADD_raw_rankscore=0.696;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.978;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.662;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.561;Eigen-PC-raw=0.387;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=2.700;phyloP100way_vertebrate_rankscore=0.465;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.741;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.971;phastCons20way_mammalian_rankscore=0.463;SiPhy_29way_logOdds=10.491;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Myosin,_N-terminal,_SH3-like|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0883;ExAC_nontcga_ALL=0.0678;ExAC_nontcga_AFR=0.0604;ExAC_nontcga_AMR=0.0386;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0.0487;ExAC_nontcga_NFE=0.0805;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0828;AF=0.0705;AF_popmax=0.0854;AF_male=0.0696;AF_female=0.0716;AF_raw=0.0706;AF_afr=0.0647;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.0854;AF_fin=0.0480;AF_asj=0.0868;AF_oth=0.0709;non_topmed_AF_popmax=0.0856;non_neuro_AF_popmax=0.0855;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738408;ALLELE_END;VINYL_score=5 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23876347 rs150574114 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=17878;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0144;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G86A:p.R29Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150574114;CLNALLELEID=175581;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.404;SIFT_converted_rankscore=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.71;Polyphen2_HDIV_rankscore=0.401;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.182;Polyphen2_HVAR_rankscore=0.343;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=1.99;MutationAssessor_score_rankscore=0.540;MutationAssessor_pred=M;FATHMM_score=-1.94;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-0.659;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.194;MetaLR_rankscore=0.547;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.306;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=0.995;DANN_rankscore=0.671;fathmm-MKL_coding_score=0.838;fathmm-MKL_coding_rankscore=0.426;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.104;Eigen-PC-raw=-0.038;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.53;GERP++_RS_rankscore=0.394;phyloP100way_vertebrate=1.722;phyloP100way_vertebrate_rankscore=0.374;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.395;phastCons100way_vertebrate_rankscore=0.259;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.491;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0141;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0046;AF_popmax=0.0155;AF_male=0.0049;AF_female=0.0041;AF_raw=0.0046;AF_afr=0.0155;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0155;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492685|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869857;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23881950 rs17794387 C T 100 PASS AC=19;AF=0.0636981;AN=214;NS=2504;DP=17071;EAS_AF=0.0665;AMR_AF=0.0519;AFR_AF=0.0219;EUR_AF=0.0765;SAS_AF=0.1125;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:c.*113G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0636981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17794387;CLNALLELEID=335628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0627;AF_popmax=0.0759;AF_male=0.0590;AF_female=0.0673;AF_raw=0.0627;AF_afr=0.0293;AF_sas=.;AF_amr=0.0601;AF_eas=0.0533;AF_nfe=0.0759;AF_fin=0.0846;AF_asj=0.1069;AF_oth=0.0763;non_topmed_AF_popmax=0.0778;non_neuro_AF_popmax=0.0751;non_cancer_AF_popmax=.;controls_AF_popmax=0.0786;Kaviar_AF=0.0138226;Kaviar_AC=2137;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771126;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23882043 rs45548631 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:c.*20G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45548631;CLNALLELEID=186460;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0049;AF_popmax=0.0073;AF_male=0.0041;AF_female=0.0058;AF_raw=0.0049;AF_afr=0.0018;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.0053492;Kaviar_AC=827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.786623;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23882144 rs2284651 T C 100 PASS AC=81;AF=0.384385;AN=214;NS=2504;DP=17342;EAS_AF=0.1577;AMR_AF=0.2723;AFR_AF=0.7141;EUR_AF=0.3569;SAS_AF=0.2802;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.384385;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2284651;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3705;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4373;AF_popmax=0.6933;AF_male=0.4389;AF_female=0.4352;AF_raw=0.4369;AF_afr=0.6933;AF_sas=.;AF_amr=0.2830;AF_eas=0.1375;AF_nfe=0.3720;AF_fin=0.2820;AF_asj=0.4583;AF_oth=0.3540;non_topmed_AF_popmax=0.6938;non_neuro_AF_popmax=0.6916;non_cancer_AF_popmax=.;controls_AF_popmax=0.6937;Kaviar_AF=0.0711246;Kaviar_AC=10996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.876321;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23882186 rs7149517 T G 100 PASS AC=72;AF=0.351038;AN=214;NS=2504;DP=16207;EAS_AF=0.0843;AMR_AF=0.245;AFR_AF=0.7065;EUR_AF=0.3429;SAS_AF=0.229;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7149517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4242;AF_popmax=0.6841;AF_male=0.4244;AF_female=0.4239;AF_raw=0.4239;AF_afr=0.6841;AF_sas=.;AF_amr=0.2459;AF_eas=0.0591;AF_nfe=0.3639;AF_fin=0.2725;AF_asj=0.4310;AF_oth=0.3383;non_topmed_AF_popmax=0.6845;non_neuro_AF_popmax=0.6839;non_cancer_AF_popmax=.;controls_AF_popmax=0.6846;Kaviar_AF=0.066351;Kaviar_AC=10258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.461272;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23883184 rs3729833 C T 100 PASS AC=34;AF=0.134984;AN=214;NS=2504;DP=16963;EAS_AF=0.001;AMR_AF=0.0937;AFR_AF=0.3328;EUR_AF=0.1402;SAS_AF=0.0297;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.134984;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729833;CLNALLELEID=254924;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1524;ExAC_nontcga_ALL=0.1280;ExAC_nontcga_AFR=0.3193;ExAC_nontcga_AMR=0.0612;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1057;ExAC_nontcga_NFE=0.1566;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.0430;AF=0.1912;AF_popmax=0.3187;AF_male=0.1942;AF_female=0.1873;AF_raw=0.1914;AF_afr=0.3187;AF_sas=.;AF_amr=0.0851;AF_eas=0;AF_nfe=0.1652;AF_fin=0.1103;AF_asj=0.2172;AF_oth=0.1485;non_topmed_AF_popmax=0.3194;non_neuro_AF_popmax=0.3144;non_cancer_AF_popmax=.;controls_AF_popmax=0.3128;Kaviar_AF=0.133963;Kaviar_AC=20711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.414736;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23883374 rs147219976 C T 100 PASS AC=1;AF=0.00479233;AN=214;NS=2504;DP=19555;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0106;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147219976;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0048;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0048;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23883404 rs41285540 C G 100 PASS AC=19;AF=0.0617013;AN=214;NS=2504;DP=20716;EAS_AF=0.0655;AMR_AF=0.0432;AFR_AF=0.0212;EUR_AF=0.0755;SAS_AF=0.1115;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0617013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0616;AF_popmax=0.0751;AF_male=0.0579;AF_female=0.0661;AF_raw=0.0616;AF_afr=0.0291;AF_sas=.;AF_amr=0.0519;AF_eas=0.0468;AF_nfe=0.0751;AF_fin=0.0838;AF_asj=0.1076;AF_oth=0.0754;non_topmed_AF_popmax=0.0768;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0774;Kaviar_AF=0.0134604;Kaviar_AC=2081;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23884137 rs3729832 T A 100 PASS AC=19;AF=0.116813;AN=214;NS=2504;DP=20403;EAS_AF=0.0179;AMR_AF=0.1009;AFR_AF=0.2148;EUR_AF=0.1262;SAS_AF=0.0879;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.116813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1382;AF_popmax=0.2247;AF_male=0.1384;AF_female=0.1379;AF_raw=0.1384;AF_afr=0.2247;AF_sas=.;AF_amr=0.0936;AF_eas=0.0122;AF_nfe=0.1213;AF_fin=0.0775;AF_asj=0.1069;AF_oth=0.1033;non_topmed_AF_popmax=0.2251;non_neuro_AF_popmax=0.2318;non_cancer_AF_popmax=.;controls_AF_popmax=0.2377;Kaviar_AF=0.0227423;Kaviar_AC=3516;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23884174 rs45559133 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20743;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45559133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.501e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.561e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23884524 rs45468101 C A 100 PASS AC=9;AF=0.0309505;AN=214;NS=2504;DP=20826;EAS_AF=0.0625;AMR_AF=0.0274;AFR_AF=0.0091;EUR_AF=0.0139;SAS_AF=0.0481;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45468101;CLNALLELEID=186466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0220;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0394;ExAC_nontcga_EAS=0.0770;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0332;AF=0.0123;AF_popmax=0.0681;AF_male=0.0133;AF_female=0.0111;AF_raw=0.0124;AF_afr=0.0094;AF_sas=.;AF_amr=0.0354;AF_eas=0.0681;AF_nfe=0.0074;AF_fin=0.0086;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0681;non_cancer_AF_popmax=.;controls_AF_popmax=0.0746;Kaviar_AF=0.0195664;Kaviar_AC=3025;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.581077;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45468101;CLNALLELEID=186466;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0220;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0394;ExAC_nontcga_EAS=0.0770;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0332;AF=0.0123;AF_popmax=0.0681;AF_male=0.0133;AF_female=0.0111;AF_raw=0.0124;AF_afr=0.0094;AF_sas=.;AF_amr=0.0354;AF_eas=0.0681;AF_nfe=0.0074;AF_fin=0.0086;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0681;non_cancer_AF_popmax=.;controls_AF_popmax=0.0746;Kaviar_AF=0.0195664;Kaviar_AC=3025;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.581077;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23884889 rs3729830 C T 100 PASS AC=19;AF=0.117612;AN=214;NS=2504;DP=20562;EAS_AF=0.0188;AMR_AF=0.098;AFR_AF=0.2239;EUR_AF=0.1262;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729830;CLNALLELEID=52226;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1317;ExAC_nontcga_ALL=0.1035;ExAC_nontcga_AFR=0.2325;ExAC_nontcga_AMR=0.0572;ExAC_nontcga_EAS=0.0149;ExAC_nontcga_FIN=0.0745;ExAC_nontcga_NFE=0.1148;ExAC_nontcga_OTH=0.0965;ExAC_nontcga_SAS=0.0811;AF=0.1408;AF_popmax=0.2348;AF_male=0.1406;AF_female=0.1411;AF_raw=0.1409;AF_afr=0.2348;AF_sas=.;AF_amr=0.0920;AF_eas=0.0122;AF_nfe=0.1214;AF_fin=0.0771;AF_asj=0.0966;AF_oth=0.1031;non_topmed_AF_popmax=0.2356;non_neuro_AF_popmax=0.2411;non_cancer_AF_popmax=.;controls_AF_popmax=0.2479;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.956978;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23884981 rs550015662 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22840;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5014A:p.A1672T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550015662;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_rankscore=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.311;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.795;MutationAssessor_score_rankscore=0.818;MutationAssessor_pred=M;FATHMM_score=-1.68;FATHMM_converted_rankscore=0.829;FATHMM_pred=D;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.547;VEST3_rankscore=0.584;MetaSVM_score=0.038;MetaSVM_rankscore=0.830;MetaSVM_pred=D;MetaLR_score=0.574;MetaLR_rankscore=0.846;MetaLR_pred=D;M-CAP_score=0.796;M-CAP_rankscore=0.984;M-CAP_pred=D;REVEL_score=0.598;REVEL_rankscore=0.843;MutPred_score=0.565;MutPred_rankscore=0.687;CADD_raw=4.429;CADD_raw_rankscore=0.593;CADD_phred=24.2;DANN_score=0.999;DANN_rankscore=0.994;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.798;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.331;Eigen-PC-raw=0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=7.370;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=0.872;phyloP20way_mammalian_rankscore=0.381;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.163;SiPhy_29way_logOdds_rankscore=0.935;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961127;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886010 rs541315003 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18392;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541315003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886155 rs2754155 A G 100 PASS AC=3;AF=0.0111821;AN=214;NS=2504;DP=19940;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon33:c.T4566C:p.T1522T;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2754155;CLNALLELEID=52197;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0129;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0326;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0284;AF=0.0102;AF_popmax=0.0212;AF_male=0.0095;AF_female=0.0111;AF_raw=0.0102;AF_afr=0.0029;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0135;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0119339;Kaviar_AC=1845;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942853;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886264 rs3729825 C T 100 PASS AC=35;AF=0.136981;AN=214;NS=2504;DP=17407;EAS_AF=0.002;AMR_AF=0.0893;AFR_AF=0.3419;EUR_AF=0.1392;SAS_AF=0.0307;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136981;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729825;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1913;AF_popmax=0.3210;AF_male=0.1942;AF_female=0.1876;AF_raw=0.1912;AF_afr=0.3210;AF_sas=.;AF_amr=0.0837;AF_eas=0;AF_nfe=0.1640;AF_fin=0.1105;AF_asj=0.2172;AF_oth=0.1482;non_topmed_AF_popmax=0.3215;non_neuro_AF_popmax=0.3170;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.0289906;Kaviar_AC=4482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.574244;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23886409 rs3729823 G C 100 PASS AC=3;AF=0.00519169;AN=214;NS=2504;DP=17894;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4472G:p.S1491C;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729823;CLNALLELEID=52190;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_score_rankscore=0.754;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.221;VEST3_rankscore=0.271;MetaSVM_score=-0.285;MetaSVM_rankscore=0.754;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_rankscore=0.721;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.122;CADD_raw_rankscore=0.435;CADD_phred=22.6;DANN_score=0.993;DANN_rankscore=0.571;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.239;Eigen-PC-raw=0.390;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=7.788;phyloP100way_vertebrate_rankscore=0.842;phyloP20way_mammalian=0.887;phyloP20way_mammalian_rankscore=0.390;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=19.089;SiPhy_29way_logOdds_rankscore=0.932;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0115;ExAC_nontcga_ALL=0.0071;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0066;AF=0.0069;AF_popmax=0.0118;AF_male=0.0072;AF_female=0.0065;AF_raw=0.0068;AF_afr=0.0022;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0020;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.008137;Kaviar_AC=1258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951914;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886509 rs190577943 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4372G:p.Q1458E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190577943;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.215;MutationAssessor_score_rankscore=0.895;MutationAssessor_pred=M;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.435;PROVEAN_pred=N;VEST3_score=0.5;VEST3_rankscore=0.545;MetaSVM_score=0.369;MetaSVM_rankscore=0.886;MetaSVM_pred=D;MetaLR_score=0.666;MetaLR_rankscore=0.884;MetaLR_pred=D;M-CAP_score=0.555;M-CAP_rankscore=0.959;M-CAP_pred=D;REVEL_score=0.407;REVEL_rankscore=0.723;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.335;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.996;DANN_rankscore=0.760;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.901;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.873;Eigen-PC-raw=0.832;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=7.366;phyloP100way_vertebrate_rankscore=0.786;phyloP20way_mammalian=0.939;phyloP20way_mammalian_rankscore=0.529;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.465;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.421e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.940907;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23886597 rs528481295 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17028;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528481295;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.113237;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23887645 rs7159367 T C 100 PASS AC=73;AF=0.351238;AN=214;NS=2504;DP=18824;EAS_AF=0.0952;AMR_AF=0.2378;AFR_AF=0.7171;EUR_AF=0.3429;SAS_AF=0.2096;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7159367;CLNALLELEID=254926;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3634;ExAC_nontcga_ALL=0.3285;ExAC_nontcga_AFR=0.6983;ExAC_nontcga_AMR=0.1672;ExAC_nontcga_EAS=0.0807;ExAC_nontcga_FIN=0.2834;ExAC_nontcga_NFE=0.3636;ExAC_nontcga_OTH=0.3207;ExAC_nontcga_SAS=0.2431;AF=0.4247;AF_popmax=0.6899;AF_male=0.4255;AF_female=0.4237;AF_raw=0.4246;AF_afr=0.6899;AF_sas=.;AF_amr=0.2435;AF_eas=0.0734;AF_nfe=0.3611;AF_fin=0.2707;AF_asj=0.4276;AF_oth=0.3380;non_topmed_AF_popmax=0.6905;non_neuro_AF_popmax=0.6891;non_cancer_AF_popmax=.;controls_AF_popmax=0.6916;Kaviar_AF=0.315158;Kaviar_AC=48724;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.429998;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888323 rs34598192 T TG 100 PASS AC=73;AF=0.337061;AN=214;NS=2504;DP=21567;EAS_AF=0.0952;AMR_AF=0.2363;AFR_AF=0.6641;EUR_AF=0.3429;SAS_AF=0.2096;AA=G|-|G|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.337061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34598192;CLNALLELEID=45302;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4088;AF_popmax=0.6369;AF_male=0.4088;AF_female=0.4088;AF_raw=0.4095;AF_afr=0.6369;AF_sas=.;AF_amr=0.2441;AF_eas=0.0701;AF_nfe=0.3603;AF_fin=0.2693;AF_asj=0.4207;AF_oth=0.3287;non_topmed_AF_popmax=0.6374;non_neuro_AF_popmax=0.6352;non_cancer_AF_popmax=.;controls_AF_popmax=0.6400;Kaviar_AF=0.0472115;Kaviar_AC=7299;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.776626;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888368 rs199919578 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20810;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199919578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.115275;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23888371 rs3729820 G A 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=20893;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729820;CLNALLELEID=52153;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0135;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0343;ExAC_nontcga_NFE=0.0161;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0062;AF=0.0143;AF_popmax=0.0204;AF_male=0.0132;AF_female=0.0157;AF_raw=0.0143;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0204;AF_fin=0.0282;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.0114811;Kaviar_AC=1775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.287787;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23888665 rs2277475 A T 100 PASS AC=73;AF=0.336661;AN=214;NS=2504;DP=16249;EAS_AF=0.0952;AMR_AF=0.2363;AFR_AF=0.6626;EUR_AF=0.3429;SAS_AF=0.2096;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277475;CLNALLELEID=254927;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3628;ExAC_nontcga_ALL=0.3086;ExAC_nontcga_AFR=0.6390;ExAC_nontcga_AMR=0.1586;ExAC_nontcga_EAS=0.0742;ExAC_nontcga_FIN=0.2644;ExAC_nontcga_NFE=0.3504;ExAC_nontcga_OTH=0.2899;ExAC_nontcga_SAS=0.2213;AF=0.4097;AF_popmax=0.6384;AF_male=0.4100;AF_female=0.4092;AF_raw=0.4099;AF_afr=0.6384;AF_sas=.;AF_amr=0.2411;AF_eas=0.0728;AF_nfe=0.3608;AF_fin=0.2702;AF_asj=0.4167;AF_oth=0.3339;non_topmed_AF_popmax=0.6388;non_neuro_AF_popmax=0.6371;non_cancer_AF_popmax=.;controls_AF_popmax=0.6408;Kaviar_AF=0.314136;Kaviar_AC=48566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.431162;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 1|0 1|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 +14 23888671 rs45584435 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=16856;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45584435;CLNALLELEID=186480;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0018;AF=0.0055;AF_popmax=0.0055;AF_male=0.0054;AF_female=0.0055;AF_raw=0.0055;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0152;AF_asj=0.0103;AF_oth=0.0156;non_topmed_AF_popmax=0.0055;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0039909;Kaviar_AC=617;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.456038;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23889445 rs564923630 T TG 100 PASS AC=11;AF=0.0403355;AN=214;NS=2504;DP=15283;EAS_AF=0.0565;AMR_AF=0.0173;AFR_AF=0.0144;EUR_AF=0.0388;SAS_AF=0.0767;AA=GGG|GG|GGG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYH7;GeneDetail.refGene=NM_000257:exon27:c.3337-2->C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45504498;CLNALLELEID=52126;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0024;AF=0.0601;AF_popmax=0.0709;AF_male=0.0569;AF_female=0.0641;AF_raw=0.0611;AF_afr=0.0296;AF_sas=.;AF_amr=0.0544;AF_eas=0.0623;AF_nfe=0.0709;AF_fin=0.0821;AF_asj=0.0951;AF_oth=0.0731;non_topmed_AF_popmax=0.0711;non_neuro_AF_popmax=0.0717;non_cancer_AF_popmax=.;controls_AF_popmax=0.0730;Kaviar_AF=0.0021151;Kaviar_AC=327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911055;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23890074 rs148245126 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=20534;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148245126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0002;AF_raw=0.0005;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.334011;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23891481 rs45540831 C T 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=20060;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.G3153A:p.A1051A;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45540831;CLNALLELEID=52116;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0040;AF=0.0056;AF_popmax=0.0090;AF_male=0.0058;AF_female=0.0055;AF_raw=0.0056;AF_afr=0.0025;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0017;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0052522;Kaviar_AC=812;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944357;ALLELE_END;VINYL_score=3 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +14 23891496 rs201195256 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19610;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon25:c.G3138A:p.M1046I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201195256;CLNALLELEID=230500;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.964;Polyphen2_HDIV_rankscore=0.539;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.968;Polyphen2_HVAR_rankscore=0.701;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.875;MutationAssessor_score_rankscore=0.836;MutationAssessor_pred=M;FATHMM_score=-3.15;FATHMM_converted_rankscore=0.929;FATHMM_pred=D;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.590;PROVEAN_pred=D;VEST3_score=0.688;VEST3_rankscore=0.694;MetaSVM_score=0.941;MetaSVM_rankscore=0.963;MetaSVM_pred=D;MetaLR_score=0.890;MetaLR_rankscore=0.963;MetaLR_pred=D;M-CAP_score=0.901;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.635;REVEL_rankscore=0.862;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.877;CADD_raw_rankscore=0.523;CADD_phred=23.5;DANN_score=0.998;DANN_rankscore=0.865;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.681;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.759;Eigen-PC-raw=0.707;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.64;GERP++_RS_rankscore=0.572;phyloP100way_vertebrate=6.016;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=0.917;phyloP20way_mammalian_rankscore=0.428;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.045;SiPhy_29way_logOdds_rankscore=0.892;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961235;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892819 rs145379951 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18014;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.C3036T:p.A1012A;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145379951;CLNALLELEID=52115;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0083;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.001423;Kaviar_AC=220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.935932;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892879 rs368728770 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.G2976A:p.L992L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368728770;CLNALLELEID=230501;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.952616;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892888 rs7157716 A G 100 PASS AC=73;AF=0.376398;AN=214;NS=2504;DP=18292;EAS_AF=0.1667;AMR_AF=0.2334;AFR_AF=0.7458;EUR_AF=0.3111;SAS_AF=0.2618;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;1000g2015aug_all=0.376398;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7157716;CLNALLELEID=52112;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3288;ExAC_nontcga_ALL=0.3161;ExAC_nontcga_AFR=0.7186;ExAC_nontcga_AMR=0.1847;ExAC_nontcga_EAS=0.1553;ExAC_nontcga_FIN=0.2499;ExAC_nontcga_NFE=0.3256;ExAC_nontcga_OTH=0.2925;ExAC_nontcga_SAS=0.2568;AF=0.4172;AF_popmax=0.7188;AF_male=0.4202;AF_female=0.4136;AF_raw=0.4170;AF_afr=0.7188;AF_sas=.;AF_amr=0.2530;AF_eas=0.1386;AF_nfe=0.3260;AF_fin=0.2598;AF_asj=0.4271;AF_oth=0.3318;non_topmed_AF_popmax=0.7193;non_neuro_AF_popmax=0.7150;non_cancer_AF_popmax=.;controls_AF_popmax=0.7175;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0804994|N/A|JUND(var.2)|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.945404;ALLELE_END;VINYL_score=2 GT 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 1|1 1|1 0|0 +14 23892948 rs188634023 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20360;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188634023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721436|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.890238;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23892950 rs7157087 C T 100 PASS AC=1;AF=0.0507188;AN=214;NS=2504;DP=20435;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.1815;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7157087;CLNALLELEID=186489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0155;ExAC_nontcga_AFR=0.1667;ExAC_nontcga_AMR=0.0078;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0003;AF=0.0439;AF_popmax=0.1549;AF_male=0.0455;AF_female=0.0419;AF_raw=0.0441;AF_afr=0.1549;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.1547;non_neuro_AF_popmax=0.1563;non_cancer_AF_popmax=.;controls_AF_popmax=0.1553;Kaviar_AF=0.0145664;Kaviar_AC=2252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721436|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.890238;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23894051 rs202141173 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19428;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon22:c.G2606A:p.R869H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202141173;CLNALLELEID=175615;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=3.25;MutationAssessor_score_rankscore=0.900;MutationAssessor_pred=M;FATHMM_score=-1.74;FATHMM_converted_rankscore=0.834;FATHMM_pred=D;PROVEAN_score=-2.99;PROVEAN_converted_rankscore=0.621;PROVEAN_pred=D;VEST3_score=0.875;VEST3_rankscore=0.863;MetaSVM_score=0.590;MetaSVM_rankscore=0.918;MetaSVM_pred=D;MetaLR_score=0.738;MetaLR_rankscore=0.911;MetaLR_pred=D;M-CAP_score=0.906;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.675;REVEL_rankscore=0.882;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.365;CADD_raw_rankscore=0.950;CADD_phred=34;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.322;fathmm-MKL_coding_rankscore=0.243;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.527;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=0.918;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.673;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.767e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.956137;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23894291 rs45571436 C T 100 PASS AC=9;AF=0.0301518;AN=214;NS=2504;DP=18148;EAS_AF=0.0675;AMR_AF=0.0288;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0501;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45571436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0100;AF_popmax=0.0656;AF_male=0.0111;AF_female=0.0087;AF_raw=0.0100;AF_afr=0.0015;AF_sas=.;AF_amr=0.0354;AF_eas=0.0656;AF_nfe=0.0073;AF_fin=0.0092;AF_asj=0.0276;AF_oth=0.0156;non_topmed_AF_popmax=0.0632;non_neuro_AF_popmax=0.0656;non_cancer_AF_popmax=.;controls_AF_popmax=0.0731;Kaviar_AF=0.0030271;Kaviar_AC=468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.785330;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23895083 rs3729818 T C 100 PASS AC=29;AF=0.251997;AN=214;NS=2504;DP=20021;EAS_AF=0.0972;AMR_AF=0.1326;AFR_AF=0.5567;EUR_AF=0.1571;SAS_AF=0.182;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2500;AF_popmax=0.5188;AF_male=0.2501;AF_female=0.2498;AF_raw=0.2505;AF_afr=0.5188;AF_sas=.;AF_amr=0.1392;AF_eas=0.0751;AF_nfe=0.1542;AF_fin=0.1396;AF_asj=0.1828;AF_oth=0.1707;non_topmed_AF_popmax=0.5199;non_neuro_AF_popmax=0.5137;non_cancer_AF_popmax=.;controls_AF_popmax=0.5234;Kaviar_AF=0.0230463;Kaviar_AC=3563;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.594066;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 +14 23896823 rs199862338 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21962;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.T1859A:p.L620Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199862338;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.928;Polyphen2_HDIV_rankscore=0.496;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.935;MutationAssessor_score_rankscore=0.849;MutationAssessor_pred=M;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.965;FATHMM_pred=D;PROVEAN_score=-5.39;PROVEAN_converted_rankscore=0.850;PROVEAN_pred=D;VEST3_score=0.904;VEST3_rankscore=0.894;MetaSVM_score=1.097;MetaSVM_rankscore=0.996;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.985;MetaLR_pred=D;M-CAP_score=0.974;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.902;REVEL_rankscore=0.973;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.665;CADD_raw_rankscore=0.772;CADD_phred=26.7;DANN_score=0.996;DANN_rankscore=0.739;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.954;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.868;Eigen-PC-raw=0.782;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=8.958;phyloP100way_vertebrate_rankscore=0.929;phyloP20way_mammalian=1.192;phyloP20way_mammalian_rankscore=0.910;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.903;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=14.878;SiPhy_29way_logOdds_rankscore=0.700;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.443e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944014;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23897077 rs2069543 T C 100 PASS AC=1;AF=0.0329473;AN=214;NS=2504;DP=22600;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.115;EUR_AF=0.002;SAS_AF=0.002;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.A1605G:p.E535E;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069543;CLNALLELEID=52023;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.1131;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0303;AF_popmax=0.1075;AF_male=0.0317;AF_female=0.0286;AF_raw=0.0305;AF_afr=0.1075;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1079;non_neuro_AF_popmax=0.1064;non_cancer_AF_popmax=.;controls_AF_popmax=0.1081;Kaviar_AF=0.0099223;Kaviar_AC=1534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.953995;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23897156 rs45448096 G A 100 PASS AC=3;AF=0.00119808;AN=214;NS=2504;DP=22828;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45448096;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0019;AF_popmax=0.0047;AF_male=0.0020;AF_female=0.0017;AF_raw=0.0019;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0032;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.000414;Kaviar_AC=64;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.087525;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898105 rs555358506 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23518;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555358506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898122 rs45592847 G C 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=22663;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45592847;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0028;AF=0.0002;AF_popmax=0.0002;AF_male=0.0003;AF_female=7.183e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.095864;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898504 rs139506719 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22346;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon13:c.G1191A:p.K397K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139506719;CLNALLELEID=51999;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=3.186e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944366;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23898994 rs2231126 G A 100 PASS AC=9;AF=0.15615;AN=214;NS=2504;DP=18741;EAS_AF=0.0198;AMR_AF=0.0764;AFR_AF=0.4206;EUR_AF=0.0785;SAS_AF=0.0757;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;1000g2015aug_all=0.15615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231126;CLNALLELEID=51993;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0867;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.3836;ExAC_nontcga_AMR=0.0470;ExAC_nontcga_EAS=0.0145;ExAC_nontcga_FIN=0.0543;ExAC_nontcga_NFE=0.0777;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.0745;AF=0.1576;AF_popmax=0.3824;AF_male=0.1596;AF_female=0.1551;AF_raw=0.1579;AF_afr=0.3824;AF_sas=.;AF_amr=0.0778;AF_eas=0.0116;AF_nfe=0.0788;AF_fin=0.0574;AF_asj=0.0694;AF_oth=0.0904;non_topmed_AF_popmax=0.3830;non_neuro_AF_popmax=0.3812;non_cancer_AF_popmax=.;controls_AF_popmax=0.3889;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.861634;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23899027 rs735711 C T 100 PASS AC=35;AF=0.0796725;AN=214;NS=2504;DP=17780;EAS_AF=0.001;AMR_AF=0.0706;AFR_AF=0.1362;EUR_AF=0.1402;SAS_AF=0.0286;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.G1095A:p.K365K;1000g2015aug_all=0.0796725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs735711;CLNALLELEID=51991;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1121;ExAC_nontcga_AFR=0.1428;ExAC_nontcga_AMR=0.0542;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1049;ExAC_nontcga_NFE=0.1570;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.0424;AF=0.1402;AF_popmax=0.1631;AF_male=0.1414;AF_female=0.1387;AF_raw=0.1405;AF_afr=0.1413;AF_sas=.;AF_amr=0.0743;AF_eas=0;AF_nfe=0.1631;AF_fin=0.1109;AF_asj=0.2138;AF_oth=0.1340;non_topmed_AF_popmax=0.1559;non_neuro_AF_popmax=0.1610;non_cancer_AF_popmax=.;controls_AF_popmax=0.1476;Kaviar_AF=0.118517;Kaviar_AC=18323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.919528;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 +14 23899060 rs735712 G A 100 PASS AC=19;AF=0.0638978;AN=214;NS=2504;DP=18746;EAS_AF=0.0813;AMR_AF=0.0432;AFR_AF=0.0219;EUR_AF=0.0736;SAS_AF=0.1074;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1062T:p.G354G;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs735712;CLNALLELEID=51989;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0795;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.0263;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.0644;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0775;ExAC_nontcga_OTH=0.0634;ExAC_nontcga_SAS=0.0998;AF=0.0591;AF_popmax=0.0740;AF_male=0.0564;AF_female=0.0625;AF_raw=0.0592;AF_afr=0.0291;AF_sas=.;AF_amr=0.0578;AF_eas=0.0616;AF_nfe=0.0740;AF_fin=0.0611;AF_asj=0.1076;AF_oth=0.0665;non_topmed_AF_popmax=0.0750;non_neuro_AF_popmax=0.0734;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0701091;Kaviar_AC=10839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937441;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23899725 rs3729810 A G 100 PASS AC=9;AF=0.170527;AN=214;NS=2504;DP=21464;EAS_AF=0.0179;AMR_AF=0.0749;AFR_AF=0.4705;EUR_AF=0.0845;SAS_AF=0.0787;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729810;CLNALLELEID=254931;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0886;ExAC_nontcga_ALL=0.1096;ExAC_nontcga_AFR=0.4297;ExAC_nontcga_AMR=0.0620;ExAC_nontcga_EAS=0.0161;ExAC_nontcga_FIN=0.0631;ExAC_nontcga_NFE=0.0877;ExAC_nontcga_OTH=0.0956;ExAC_nontcga_SAS=0.0835;AF=0.1687;AF_popmax=0.4159;AF_male=0.1714;AF_female=0.1654;AF_raw=0.1688;AF_afr=0.4159;AF_sas=.;AF_amr=0.0861;AF_eas=0.0115;AF_nfe=0.0811;AF_fin=0.0599;AF_asj=0.0694;AF_oth=0.1002;non_topmed_AF_popmax=0.4165;non_neuro_AF_popmax=0.4137;non_cancer_AF_popmax=.;controls_AF_popmax=0.4200;Kaviar_AF=0.097088;Kaviar_AC=15010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 +14 23899793 rs2231124 G A 100 PASS AC=8;AF=0.0145767;AN=214;NS=2504;DP=22298;EAS_AF=0;AMR_AF=0.036;AFR_AF=0.003;EUR_AF=0.0348;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon11:c.C975T:p.D325D;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2231124;CLNALLELEID=52286;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0290;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0208;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0137;ExAC_nontcga_NFE=0.0291;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0099;AF=0.0159;AF_popmax=0.0237;AF_male=0.0157;AF_female=0.0162;AF_raw=0.0159;AF_afr=0.0041;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0237;AF_fin=0.0127;AF_asj=0.0621;AF_oth=0.0202;non_topmed_AF_popmax=0.0226;non_neuro_AF_popmax=0.0241;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0210541;Kaviar_AC=3255;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.923626;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23900093 rs45580436 C T 100 PASS AC=7;AF=0.0471246;AN=214;NS=2504;DP=20333;EAS_AF=0.0645;AMR_AF=0.0331;AFR_AF=0.0658;EUR_AF=0.0119;SAS_AF=0.0501;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45580436;CLNALLELEID=186506;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0526;ExAC_nontcga_AMR=0.0425;ExAC_nontcga_EAS=0.0760;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0349;AF=0.0220;AF_popmax=0.0635;AF_male=0.0235;AF_female=0.0201;AF_raw=0.0220;AF_afr=0.0465;AF_sas=.;AF_amr=0.0377;AF_eas=0.0635;AF_nfe=0.0066;AF_fin=0.0075;AF_asj=0.0207;AF_oth=0.0185;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0711;Kaviar_AF=0.0225288;Kaviar_AC=3483;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0132576::-0.719522;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.498820;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +14 23900794 rs2069542 G A 100 PASS AC=31;AF=0.263778;AN=214;NS=2504;DP=20722;EAS_AF=0.0903;AMR_AF=0.1311;AFR_AF=0.5976;EUR_AF=0.16;SAS_AF=0.1922;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;1000g2015aug_all=0.263778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069542;CLNALLELEID=52273;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.104;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.5474;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.0681;ExAC_nontcga_FIN=0.1112;ExAC_nontcga_NFE=0.1598;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1877;AF=0.2556;AF_popmax=0.5446;AF_male=0.2574;AF_female=0.2534;AF_raw=0.2557;AF_afr=0.5446;AF_sas=.;AF_amr=0.1489;AF_eas=0.0674;AF_nfe=0.1551;AF_fin=0.1207;AF_asj=0.2034;AF_oth=0.1670;non_topmed_AF_popmax=0.5459;non_neuro_AF_popmax=0.5370;non_cancer_AF_popmax=.;controls_AF_popmax=0.5440;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.958007;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;1000g2015aug_all=0.263778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069542;CLNALLELEID=52273;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0008;dbscSNV_RF_SCORE=0.104;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.1811;ExAC_nontcga_AFR=0.5474;ExAC_nontcga_AMR=0.1007;ExAC_nontcga_EAS=0.0681;ExAC_nontcga_FIN=0.1112;ExAC_nontcga_NFE=0.1598;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1877;AF=0.2556;AF_popmax=0.5446;AF_male=0.2574;AF_female=0.2534;AF_raw=0.2557;AF_afr=0.5446;AF_sas=.;AF_amr=0.1489;AF_eas=0.0674;AF_nfe=0.1551;AF_fin=0.1207;AF_asj=0.2034;AF_oth=0.1670;non_topmed_AF_popmax=0.5459;non_neuro_AF_popmax=0.5370;non_cancer_AF_popmax=.;controls_AF_popmax=0.5440;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.958007;ALLELE_END;VINYL_score=2 GT 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 +14 23901012 rs2069541 T C 100 PASS AC=7;AF=0.00579073;AN=214;NS=2504;DP=21374;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon7:c.A597G:p.A199A;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069541;CLNALLELEID=52262;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0147;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0112;AF=0.0080;AF_popmax=0.0128;AF_male=0.0087;AF_female=0.0072;AF_raw=0.0080;AF_afr=0.0026;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0120;non_topmed_AF_popmax=0.0116;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0110477;Kaviar_AC=1708;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929636;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +14 23901581 rs114763452 G T 100 PASS AC=1;AF=0.033147;AN=214;NS=2504;DP=18822;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1172;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.033147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114763452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0310;AF_popmax=0.1096;AF_male=0.0322;AF_female=0.0295;AF_raw=0.0310;AF_afr=0.1096;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1076;non_cancer_AF_popmax=.;controls_AF_popmax=0.1086;Kaviar_AF=0.0016623;Kaviar_AC=257;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23901582 rs2754165 G C 100 PASS AC=19;AF=0.061901;AN=214;NS=2504;DP=18834;EAS_AF=0.0724;AMR_AF=0.0418;AFR_AF=0.0227;EUR_AF=0.0736;SAS_AF=0.1063;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2754165;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0588;AF_popmax=0.0740;AF_male=0.0561;AF_female=0.0622;AF_raw=0.0590;AF_afr=0.0292;AF_sas=.;AF_amr=0.0590;AF_eas=0.0546;AF_nfe=0.0740;AF_fin=0.0608;AF_asj=0.1276;AF_oth=0.0610;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0734;non_cancer_AF_popmax=.;controls_AF_popmax=0.0753;Kaviar_AF=0.0017673;Kaviar_AC=46;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 23902269 rs146744056 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19551;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146744056;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0011;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0013;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013777;Kaviar_AC=213;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23902753 rs2069540 G A 100 PASS AC=103;AF=0.520367;AN=214;NS=2504;DP=22211;EAS_AF=0.4137;AMR_AF=0.4063;AFR_AF=0.6392;EUR_AF=0.4851;SAS_AF=0.5869;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2069540;CLNALLELEID=52039;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4841;ExAC_nontcga_ALL=0.4878;ExAC_nontcga_AFR=0.6271;ExAC_nontcga_AMR=0.4235;ExAC_nontcga_EAS=0.3669;ExAC_nontcga_FIN=0.3972;ExAC_nontcga_NFE=0.4760;ExAC_nontcga_OTH=0.4294;ExAC_nontcga_SAS=0.5906;AF=0.5084;AF_popmax=0.6307;AF_male=0.5070;AF_female=0.5102;AF_raw=0.5083;AF_afr=0.6307;AF_sas=.;AF_amr=0.4574;AF_eas=0.3935;AF_nfe=0.4776;AF_fin=0.4170;AF_asj=0.4448;AF_oth=0.4807;non_topmed_AF_popmax=0.6312;non_neuro_AF_popmax=0.6234;non_cancer_AF_popmax=.;controls_AF_popmax=0.6321;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951153;ALLELE_END;VINYL_score=2 GT 1|1 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|0 0|0 0|1 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 +14 23902966 rs183245129 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19529;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183245129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.539e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.384884;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 23902974 rs3729992 C A 100 PASS AC=19;AF=0.0615016;AN=214;NS=2504;DP=19315;EAS_AF=0.0724;AMR_AF=0.0418;AFR_AF=0.0227;EUR_AF=0.0726;SAS_AF=0.1053;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0615016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0778;ExAC_nontcga_ALL=0.0697;ExAC_nontcga_AFR=0.0263;ExAC_nontcga_AMR=0.0358;ExAC_nontcga_EAS=0.0544;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0787;ExAC_nontcga_OTH=0.0656;ExAC_nontcga_SAS=0.0997;AF=0.0590;AF_popmax=0.0742;AF_male=0.0564;AF_female=0.0622;AF_raw=0.0590;AF_afr=0.0292;AF_sas=.;AF_amr=0.0590;AF_eas=0.0546;AF_nfe=0.0742;AF_fin=0.0613;AF_asj=0.1276;AF_oth=0.0626;non_topmed_AF_popmax=0.0756;non_neuro_AF_popmax=0.0735;non_cancer_AF_popmax=.;controls_AF_popmax=0.0761;Kaviar_AF=0.06595;Kaviar_AC=10196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.614317;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 +14 73614748 rs116466962 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20801;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon3:c.G21A:p.P7P,PSEN1:NM_007318:exon3:c.G21A:p.P7P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116466962;CLNALLELEID=321078;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.59e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=9.25e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483541;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon3:c.G21A:p.P7P,PSEN1:NM_007318:exon3:c.G21A:p.P7P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116466962;CLNALLELEID=321078;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.59e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=9.25e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483541;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73637794 rs140089088 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20775;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140089088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0029;AF_popmax=0.0051;AF_male=0.0026;AF_female=0.0033;AF_raw=0.0029;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0047;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.323207;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73664718 rs3025786 T C 100 PASS AC=21;AF=0.0189696;AN=214;NS=2504;DP=19217;EAS_AF=0.001;AMR_AF=0.0288;AFR_AF=0.0038;EUR_AF=0.0596;SAS_AF=0.0092;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3025786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0523;ExAC_nontcga_ALL=0.0428;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0267;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0315;ExAC_nontcga_NFE=0.0727;ExAC_nontcga_OTH=0.0307;ExAC_nontcga_SAS=0.0137;AF=0.0338;AF_popmax=0.0520;AF_male=0.0333;AF_female=0.0345;AF_raw=0.0339;AF_afr=0.0098;AF_sas=.;AF_amr=0.0413;AF_eas=0.0013;AF_nfe=0.0520;AF_fin=0.0239;AF_asj=0.0414;AF_oth=0.0396;non_topmed_AF_popmax=0.0511;non_neuro_AF_popmax=0.0515;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0361444;Kaviar_AC=5588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000501807|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.422357;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 73664853 rs165932 G T 100 PASS AC=124;AF=0.671526;AN=214;NS=2504;DP=18663;EAS_AF=0.624;AMR_AF=0.6873;AFR_AF=0.7799;EUR_AF=0.5368;SAS_AF=0.7014;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.671526;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs165932;CLNALLELEID=255043;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5613;ExAC_nontcga_ALL=0.6325;ExAC_nontcga_AFR=0.7485;ExAC_nontcga_AMR=0.7147;ExAC_nontcga_EAS=0.6535;ExAC_nontcga_FIN=0.5072;ExAC_nontcga_NFE=0.5715;ExAC_nontcga_OTH=0.6107;ExAC_nontcga_SAS=0.7375;AF=0.5964;AF_popmax=0.7317;AF_male=0.6007;AF_female=0.5910;AF_raw=0.5959;AF_afr=0.7317;AF_sas=.;AF_amr=0.6958;AF_eas=0.6223;AF_nfe=0.5402;AF_fin=0.4859;AF_asj=0.5868;AF_oth=0.5498;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7293;non_cancer_AF_popmax=.;controls_AF_popmax=0.7241;Kaviar_AF=0.58791;Kaviar_AC=90892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000501807|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.910676;ALLELE_END;VINYL_score=2 GT 1|1 0|1 0|1 1|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 1|0 1|1 0|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 0|1 1|0 1|0 +14 73673178 rs17125721 A G 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19285;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN1:NM_000021:exon9:c.A953G:p.E318G,PSEN1:NM_007318:exon9:c.A941G:p.E314G;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17125721;CLNALLELEID=103986;CLNDN=Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.135;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.336;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.501;MutationTaster_pred=D;MutationAssessor_score=1.19;MutationAssessor_score_rankscore=0.302;MutationAssessor_pred=L;FATHMM_score=-6.11;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=N;VEST3_score=0.287;VEST3_rankscore=0.479;MetaSVM_score=0.747;MetaSVM_rankscore=0.938;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.956;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.476;REVEL_rankscore=0.771;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.110;CADD_raw_rankscore=0.315;CADD_phred=16.92;DANN_score=0.987;DANN_rankscore=0.438;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.917;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.170;Eigen-PC-raw=0.011;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=6.944;phyloP100way_vertebrate_rankscore=0.756;phyloP20way_mammalian=1.119;phyloP20way_mammalian_rankscore=0.881;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=15.311;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0688;dbscSNV_RF_SCORE=0.186;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0146;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0203;ExAC_nontcga_OTH=0.0210;ExAC_nontcga_SAS=0.0066;AF=0.0170;AF_popmax=0.0228;AF_male=0.0153;AF_female=0.0191;AF_raw=0.0171;AF_afr=0.0034;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0334;AF_asj=0.0069;AF_oth=0.0230;non_topmed_AF_popmax=0.0242;non_neuro_AF_popmax=0.0229;non_cancer_AF_popmax=.;controls_AF_popmax=0.0277;Kaviar_AF=0.0145406;Kaviar_AC=2248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705170;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76425507 rs199688471 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19396;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TGFB3;GeneDetail.refGene=NM_003239:c.*23G>C\x3bNM_001329939:c.*23G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199688471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000987039|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361607;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76429868 rs3917200 A G 100 PASS AC=25;AF=0.146166;AN=214;NS=2504;DP=18063;EAS_AF=0.0377;AMR_AF=0.0821;AFR_AF=0.3313;EUR_AF=0.0835;SAS_AF=0.1176;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.146166;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3917200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0766;ExAC_nontcga_ALL=0.0975;ExAC_nontcga_AFR=0.2953;ExAC_nontcga_AMR=0.0706;ExAC_nontcga_EAS=0.0327;ExAC_nontcga_FIN=0.0692;ExAC_nontcga_NFE=0.0774;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.1165;AF=0.1292;AF_popmax=0.2948;AF_male=0.1303;AF_female=0.1278;AF_raw=0.1294;AF_afr=0.2948;AF_sas=.;AF_amr=0.0825;AF_eas=0.0270;AF_nfe=0.0674;AF_fin=0.0587;AF_asj=0.1310;AF_oth=0.0904;non_topmed_AF_popmax=0.2948;non_neuro_AF_popmax=0.2917;non_cancer_AF_popmax=.;controls_AF_popmax=0.2914;Kaviar_AF=0.0936146;Kaviar_AC=14473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000987041|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76432117 rs4252338 GC G 100 PASS AC=25;AF=0.123203;AN=214;NS=2504;DP=21150;EAS_AF=0.0367;AMR_AF=0.0576;AFR_AF=0.2587;EUR_AF=0.0805;SAS_AF=0.1196;AA=CC|CC|C|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.123203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3917188;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1127;AF_popmax=0.2488;AF_male=0.1147;AF_female=0.1102;AF_raw=0.1133;AF_afr=0.2488;AF_sas=.;AF_amr=0.0626;AF_eas=0.0263;AF_nfe=0.0629;AF_fin=0.0556;AF_asj=0.1172;AF_oth=0.0766;non_topmed_AF_popmax=0.2487;non_neuro_AF_popmax=0.2438;non_cancer_AF_popmax=.;controls_AF_popmax=0.2461;Kaviar_AF=0.0127171;Kaviar_AC=331;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.988896;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 76446886 rs375232060 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17927;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TGFB3:NM_001329938:exon1:c.C351T:p.H117H,TGFB3:NM_003239:exon1:c.C351T:p.H117H,TGFB3:NM_001329939:exon2:c.C351T:p.H117H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375232060;CLNALLELEID=376215;CLNDN=Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0238;dbscSNV_RF_SCORE=0.124;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.481e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071002|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.495395;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +14 90863452 rs532682698 G T 100 PASS AC=2;AF=0.00519169;AN=214;NS=2504;DP=7680;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0166;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-123G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532682698;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0042;AF_popmax=0.0100;AF_male=0.0035;AF_female=0.0051;AF_raw=0.0042;AF_afr=0.0100;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0020;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0121;Kaviar_AF=0.0032273;Kaviar_AC=84;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1168103|N/A|TFAP2C|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.928977;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +14 90863488 rs557851193 C CA 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=7937;EAS_AF=0.002;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=?|-|A|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-87_-86insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557851193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0071;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0014;AF_afr=0.0012;AF_sas=.;AF_amr=0.0012;AF_eas=0.0071;AF_nfe=0.0010;AF_fin=0.0006;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90863489 rs12886342;rs533724156 G A,GCA 100 PASS AC=183,2;AF=0.716054,0.000998403;AN=214;NS=2504;DP=8019;EAS_AF=0.8046,0.002;AMR_AF=0.7536,0.0014;AFR_AF=0.4735,0;EUR_AF=0.8787,0.002;SAS_AF=0.7587,0;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.716054;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12886342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8852;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7799;AF_popmax=0.8786;AF_male=0.7789;AF_female=0.7813;AF_raw=0.7791;AF_afr=0.5547;AF_sas=.;AF_amr=0.7905;AF_eas=0.8178;AF_nfe=0.8786;AF_fin=0.8585;AF_asj=0.8379;AF_oth=0.8521;non_topmed_AF_popmax=0.8769;non_neuro_AF_popmax=0.8783;non_cancer_AF_popmax=.;controls_AF_popmax=0.8790;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86_-85insCA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533724156;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0071;AF_male=0.0011;AF_female=0.0007;AF_raw=0.0011;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0071;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0073;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END;VINYL_score=3 GT 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 2|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|2 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +14 90866346 rs2268433 C T 100 PASS AC=121;AF=0.484425;AN=214;NS=2504;DP=19036;EAS_AF=0.7748;AMR_AF=0.4726;AFR_AF=0.1392;EUR_AF=0.6471;SAS_AF=0.4928;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.484425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2268433;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6245;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5084;AF_popmax=0.7783;AF_male=0.5093;AF_female=0.5073;AF_raw=0.5082;AF_afr=0.2153;AF_sas=.;AF_amr=0.5284;AF_eas=0.7783;AF_nfe=0.6183;AF_fin=0.5949;AF_asj=0.6690;AF_oth=0.5746;non_topmed_AF_popmax=0.7787;non_neuro_AF_popmax=0.7783;non_cancer_AF_popmax=.;controls_AF_popmax=0.7851;Kaviar_AF=0.117618;Kaviar_AC=18184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|1 0|0 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|0 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 +14 90866350 rs186974653 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18964;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186974653;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.179e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870167 rs147717934 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=20214;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147717934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0.0014;AF=0.0021;AF_popmax=0.0033;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0006;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0030;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0023868;Kaviar_AC=369;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870689 rs148816119 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23112;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148816119;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.786e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.877e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870740 rs143503733 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=24033;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM1:NM_006888:exon5:c.C303T:p.I101I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143503733;CLNALLELEID=464422;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0008;AF_male=0.0002;AF_female=0.0011;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.773995;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +14 90870909 rs148018707 T G 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=20529;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148018707;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0067;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0035;AF_popmax=0.0058;AF_male=0.0031;AF_female=0.0040;AF_raw=0.0035;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0039327;Kaviar_AC=608;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35083378 rs2307493 A G 100 PASS AC=2;AF=0.0285543;AN=214;NS=2504;DP=17980;EAS_AF=0.002;AMR_AF=0.0115;AFR_AF=0.0976;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTC1:NM_005159:exon6:c.T927C:p.P309P;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2307493;CLNALLELEID=54361;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0758;ExAC_nontcga_AMR=0.0118;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0012;AF=0.0215;AF_popmax=0.0683;AF_male=0.0227;AF_female=0.0200;AF_raw=0.0215;AF_afr=0.0683;AF_sas=.;AF_amr=0.0142;AF_eas=0.0019;AF_nfe=0.0037;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0686;non_neuro_AF_popmax=0.0664;non_cancer_AF_popmax=.;controls_AF_popmax=0.0684;Kaviar_AF=0.0097088;Kaviar_AC=1501;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.720799;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35083508 rs572654192 TCACA T 100 PASS AC=65;AF=0.244808;AN=214;NS=2504;DP=15400;EAS_AF=0.0843;AMR_AF=0.2176;AFR_AF=0.3169;EUR_AF=0.326;SAS_AF=0.2485;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.244808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572654192;CLNALLELEID=322319;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1361;AF_popmax=0.1316;AF_male=0.1326;AF_female=0.1406;AF_raw=0.1295;AF_afr=0.1244;AF_sas=.;AF_amr=0.1126;AF_eas=0.0192;AF_nfe=0.1316;AF_fin=0.2297;AF_asj=0.1607;AF_oth=0.1621;non_topmed_AF_popmax=0.1351;non_neuro_AF_popmax=0.1319;non_cancer_AF_popmax=.;controls_AF_popmax=0.1399;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 +15 35084543 rs530841804 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530841804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530841804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 35084562 rs377217263 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22114;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377217263;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.184e-05;AF_popmax=6.482e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48703130 rs363849 T C 100 PASS AC=1;AF=0.019369;AN=214;NS=2504;DP=19310;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0628;EUR_AF=0.002;SAS_AF=0.0051;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FBN1;GeneDetail.refGene=NM_000138:c.*57A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363849;CLNALLELEID=339277;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0188;AF_popmax=0.0628;AF_male=0.0177;AF_female=0.0202;AF_raw=0.0188;AF_afr=0.0628;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0647;non_cancer_AF_popmax=.;controls_AF_popmax=0.0642;Kaviar_AF=0.001326;Kaviar_AC=205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000086|hsa-miR-29a-3p|Experimental,MIMAT0000100|hsa-miR-29b-3p|Experimental,MIMAT0000681|hsa-miR-29c-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.538168;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48703579 rs200822151 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20648;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200822151;CLNALLELEID=340726;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.046;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.589402;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48712876 rs363838 T G 100 PASS AC=2;AF=0.0491214;AN=214;NS=2504;DP=19503;EAS_AF=0.0962;AMR_AF=0.0173;AFR_AF=0.0416;EUR_AF=0.0099;SAS_AF=0.0736;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0491214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363838;CLNALLELEID=51603;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0281;ExAC_nontcga_AFR=0.0406;ExAC_nontcga_AMR=0.0599;ExAC_nontcga_EAS=0.0781;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0410;AF=0.0207;AF_popmax=0.0565;AF_male=0.0216;AF_female=0.0197;AF_raw=0.0207;AF_afr=0.0381;AF_sas=.;AF_amr=0.0436;AF_eas=0.0565;AF_nfe=0.0080;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0254719;Kaviar_AC=3938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.084991;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48713959 rs73390302 A T 100 PASS AC=1;AF=0.0253594;AN=214;NS=2504;DP=18766;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0855;EUR_AF=0.002;SAS_AF=0.0051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73390302;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0242;AF_popmax=0.0819;AF_male=0.0238;AF_female=0.0247;AF_raw=0.0242;AF_afr=0.0819;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0820;non_neuro_AF_popmax=0.0831;non_cancer_AF_popmax=.;controls_AF_popmax=0.0844;Kaviar_AF=0.0015977;Kaviar_AC=247;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000515046|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.310398;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718045 rs200805623 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16901;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon59:c.G7221A:p.K2407K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200805623;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.431e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.790785;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718098 rs139122925 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16604;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139122925;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=9.303e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.968503;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48718120 rs142509247 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142509247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.972348;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48719701 rs978558 G T 100 PASS AC=2;AF=0.0489217;AN=214;NS=2504;DP=18898;EAS_AF=0.0962;AMR_AF=0.0173;AFR_AF=0.0408;EUR_AF=0.0099;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0489217;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs978558;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0208;AF_popmax=0.0565;AF_male=0.0216;AF_female=0.0197;AF_raw=0.0207;AF_afr=0.0381;AF_sas=.;AF_amr=0.0436;AF_eas=0.0565;AF_nfe=0.0080;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0535;Kaviar_AF=0.0042496;Kaviar_AC=657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48720526 rs363832 G C 100 PASS AC=169;AF=0.65595;AN=214;NS=2504;DP=19629;EAS_AF=0.6508;AMR_AF=0.7363;AFR_AF=0.4221;EUR_AF=0.7584;SAS_AF=0.8149;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.65595;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363832;CLNALLELEID=141015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7771;ExAC_nontcga_ALL=0.7396;ExAC_nontcga_AFR=0.4695;ExAC_nontcga_AMR=0.7993;ExAC_nontcga_EAS=0.6451;ExAC_nontcga_FIN=0.7537;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7608;ExAC_nontcga_SAS=0.8063;AF=0.6721;AF_popmax=0.7889;AF_male=0.6729;AF_female=0.6712;AF_raw=0.6719;AF_afr=0.4765;AF_sas=.;AF_amr=0.7889;AF_eas=0.6287;AF_nfe=0.7602;AF_fin=0.7431;AF_asj=0.7621;AF_oth=0.7081;non_topmed_AF_popmax=0.7901;non_neuro_AF_popmax=0.7762;non_cancer_AF_popmax=.;controls_AF_popmax=0.8130;Kaviar_AF=0.731129;Kaviar_AC=113034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.687960;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 +15 48720652 rs363830 C T 100 PASS AC=2;AF=0.0509185;AN=214;NS=2504;DP=18550;EAS_AF=0.0962;AMR_AF=0.0231;AFR_AF=0.0416;EUR_AF=0.0149;SAS_AF=0.0736;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363830;CLNALLELEID=51583;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0414;ExAC_nontcga_AMR=0.0603;ExAC_nontcga_EAS=0.0781;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0412;AF=0.0242;AF_popmax=0.0558;AF_male=0.0252;AF_female=0.0228;AF_raw=0.0242;AF_afr=0.0394;AF_sas=.;AF_amr=0.0436;AF_eas=0.0558;AF_nfe=0.0135;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0221;non_topmed_AF_popmax=0.0559;non_neuro_AF_popmax=0.0558;non_cancer_AF_popmax=.;controls_AF_popmax=0.0525;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778812;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48722884 rs363836 A G 100 PASS AC=2;AF=0.0511182;AN=214;NS=2504;DP=20401;EAS_AF=0.0972;AMR_AF=0.0231;AFR_AF=0.0416;EUR_AF=0.0149;SAS_AF=0.0736;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;1000g2015aug_all=0.0511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363836;CLNALLELEID=51582;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0414;ExAC_nontcga_AMR=0.0605;ExAC_nontcga_EAS=0.0781;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0413;AF=0.0242;AF_popmax=0.0560;AF_male=0.0253;AF_female=0.0228;AF_raw=0.0243;AF_afr=0.0394;AF_sas=.;AF_amr=0.0436;AF_eas=0.0560;AF_nfe=0.0135;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0221;non_topmed_AF_popmax=0.0561;non_neuro_AF_popmax=0.0560;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.680571;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48722887 rs201226058 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20389;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6852C:p.P2284P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201226058;CLNALLELEID=374538;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.523e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.680571;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48725121 rs363824 T G 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=20744;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon55:c.A6681C:p.S2227S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363824;CLNALLELEID=51578;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0010;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765798;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48725206 rs363823 T A 100 PASS AC=2;AF=0.0507188;AN=214;NS=2504;DP=19812;EAS_AF=0.0972;AMR_AF=0.0231;AFR_AF=0.0401;EUR_AF=0.0149;SAS_AF=0.0736;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363823;CLNALLELEID=255253;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0306;ExAC_nontcga_AFR=0.0413;ExAC_nontcga_AMR=0.0604;ExAC_nontcga_EAS=0.0783;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0413;AF=0.0243;AF_popmax=0.0565;AF_male=0.0253;AF_female=0.0230;AF_raw=0.0242;AF_afr=0.0395;AF_sas=.;AF_amr=0.0436;AF_eas=0.0565;AF_nfe=0.0135;AF_fin=0.0171;AF_asj=0.0034;AF_oth=0.0222;non_topmed_AF_popmax=0.0566;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0285313;Kaviar_AC=4411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.551345;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48726805 rs151112569 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon54:c.T6602G:p.M2201R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151112569;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.267;SIFT_converted_rankscore=0.162;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_rankscore=0.546;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.978;Polyphen2_HVAR_rankscore=0.725;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-2.19;FATHMM_converted_rankscore=0.868;FATHMM_pred=D;PROVEAN_score=-3.58;PROVEAN_converted_rankscore=0.691;PROVEAN_pred=D;VEST3_score=0.93;VEST3_rankscore=0.923;MetaSVM_score=-0.035;MetaSVM_rankscore=0.815;MetaSVM_pred=T;MetaLR_score=0.520;MetaLR_rankscore=0.821;MetaLR_pred=D;M-CAP_score=0.378;M-CAP_rankscore=0.929;M-CAP_pred=D;REVEL_score=0.731;REVEL_rankscore=0.907;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.877;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.985;DANN_rankscore=0.423;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.971;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.451;Eigen-PC-raw=0.577;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.302;SiPhy_29way_logOdds_rankscore=0.826;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|EGF-like,_conserved_site|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.793973;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48729619 rs561714171 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17335;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561714171;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.58e-06;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.683528;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48729648 rs2042746 T C 100 PASS AC=200;AF=0.930112;AN=214;NS=2504;DP=18126;EAS_AF=0.9762;AMR_AF=0.9078;AFR_AF=0.9486;EUR_AF=0.8708;SAS_AF=0.9346;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.930112;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2042746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8866;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8838;AF_popmax=0.9628;AF_male=0.8884;AF_female=0.8779;AF_raw=0.8837;AF_afr=0.9384;AF_sas=.;AF_amr=0.9480;AF_eas=0.9628;AF_nfe=0.8595;AF_fin=0.8120;AF_asj=0.9414;AF_oth=0.8410;non_topmed_AF_popmax=0.9632;non_neuro_AF_popmax=0.9628;non_cancer_AF_popmax=.;controls_AF_popmax=0.9618;Kaviar_AF=0.173478;Kaviar_AC=26820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.276548;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 +15 48729950 rs527990744 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527990744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.557e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.050638;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48736684 rs2303502 A T 100 PASS AC=168;AF=0.620807;AN=214;NS=2504;DP=18150;EAS_AF=0.5982;AMR_AF=0.7233;AFR_AF=0.4002;EUR_AF=0.7455;SAS_AF=0.7413;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.620807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6569;AF_popmax=0.7442;AF_male=0.6569;AF_female=0.6569;AF_raw=0.6567;AF_afr=0.4664;AF_sas=.;AF_amr=0.7405;AF_eas=0.6143;AF_nfe=0.7442;AF_fin=0.7263;AF_asj=0.7586;AF_oth=0.6900;non_topmed_AF_popmax=0.7425;non_neuro_AF_popmax=0.7424;non_cancer_AF_popmax=.;controls_AF_popmax=0.7623;Kaviar_AF=0.141279;Kaviar_AC=21842;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 0|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 +15 48739082 rs363800 C A 100 PASS AC=2;AF=0.0425319;AN=214;NS=2504;DP=19271;EAS_AF=0.0982;AMR_AF=0.0216;AFR_AF=0.0076;EUR_AF=0.0159;SAS_AF=0.0746;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs363800;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0176;AF_popmax=0.0583;AF_male=0.0182;AF_female=0.0168;AF_raw=0.0176;AF_afr=0.0153;AF_sas=.;AF_amr=0.0425;AF_eas=0.0583;AF_nfe=0.0136;AF_fin=0.0170;AF_asj=0.0034;AF_oth=0.0203;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0583;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0047283;Kaviar_AC=731;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.058891;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48740907 rs571100874 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571100874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.439025;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48740936 rs55649234 G GA 100 PASS AC=2;AF=0.0425319;AN=214;NS=2504;DP=16513;EAS_AF=0.0982;AMR_AF=0.0216;AFR_AF=0.0076;EUR_AF=0.0159;SAS_AF=0.0746;AA=?|AAAAAAA|AAAAAAAA|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55649234;CLNALLELEID=255260;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.0158;ExAC_nontcga_AMR=0.0610;ExAC_nontcga_EAS=0.0833;ExAC_nontcga_FIN=0.0157;ExAC_nontcga_NFE=0.0157;ExAC_nontcga_OTH=0.0196;ExAC_nontcga_SAS=0.0426;AF=0.0177;AF_popmax=0.0584;AF_male=0.0183;AF_female=0.0168;AF_raw=0.0176;AF_afr=0.0154;AF_sas=.;AF_amr=0.0427;AF_eas=0.0584;AF_nfe=0.0136;AF_fin=0.0172;AF_asj=0.0034;AF_oth=0.0202;non_topmed_AF_popmax=0.0586;non_neuro_AF_popmax=0.0584;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48744726 rs189437505 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18365;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189437505;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0008;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006209;Kaviar_AC=96;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000515051|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.107235;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48744908 rs142758852 AAGG A 100 PASS AC=2;AF=0.0405351;AN=214;NS=2504;DP=19439;EAS_AF=0.0982;AMR_AF=0.0159;AFR_AF=0.0068;EUR_AF=0.0109;SAS_AF=0.0746;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0405351;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142758852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0102;ExAC_nontcga_ALL=0.0258;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0580;ExAC_nontcga_EAS=0.0806;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0412;AF=0.0141;AF_popmax=0.0584;AF_male=0.0145;AF_female=0.0135;AF_raw=0.0140;AF_afr=0.0137;AF_sas=.;AF_amr=0.0426;AF_eas=0.0584;AF_nfe=0.0082;AF_fin=0.0145;AF_asj=0.0034;AF_oth=0.0165;non_topmed_AF_popmax=0.0586;non_neuro_AF_popmax=0.0584;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000515051|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.568935,98.510825;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48748913 rs140649 C T 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17955;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon44:c.G5343A:p.V1781V;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140649;CLNALLELEID=51551;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0018;AF=0.0054;AF_popmax=0.0093;AF_male=0.0056;AF_female=0.0052;AF_raw=0.0054;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0020;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778744;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755434 rs199644881 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20266;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon42:c.T5069G:p.M1690R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199644881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.255;Polyphen2_HDIV_rankscore=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.243;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.615;MutationAssessor_score_rankscore=0.157;MutationAssessor_pred=N;FATHMM_score=-3.04;FATHMM_converted_rankscore=0.924;FATHMM_pred=D;PROVEAN_score=-5.2;PROVEAN_converted_rankscore=0.837;PROVEAN_pred=D;VEST3_score=0.958;VEST3_rankscore=0.956;MetaSVM_score=0.427;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.729;MetaLR_rankscore=0.907;MetaLR_pred=D;M-CAP_score=0.366;M-CAP_rankscore=0.927;M-CAP_pred=D;REVEL_score=0.734;REVEL_rankscore=0.908;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.356;CADD_raw_rankscore=0.583;CADD_phred=24.1;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.930;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.378;Eigen-PC-raw=0.517;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.084;SiPhy_29way_logOdds_rankscore=0.807;Interpro_domain=TB_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.763430;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755450 rs34816032 T TA 100 PASS AC=2;AF=0.0477236;AN=214;NS=2504;DP=20380;EAS_AF=0.0982;AMR_AF=0.0187;AFR_AF=0.0325;EUR_AF=0.0109;SAS_AF=0.0746;AA=?|AAAAAAAA|AAAAAAAAA|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3833018;CLNALLELEID=175984;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0274;ExAC_nontcga_AFR=0.0316;ExAC_nontcga_AMR=0.0589;ExAC_nontcga_EAS=0.0803;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0410;AF=0.0196;AF_popmax=0.0589;AF_male=0.0200;AF_female=0.0191;AF_raw=0.0195;AF_afr=0.0320;AF_sas=.;AF_amr=0.0474;AF_eas=0.0589;AF_nfe=0.0084;AF_fin=0.0148;AF_asj=0.0035;AF_oth=0.0206;non_topmed_AF_popmax=0.0590;non_neuro_AF_popmax=0.0589;non_cancer_AF_popmax=.;controls_AF_popmax=0.0574;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.977445;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48755472 rs77105137 G A 100 PASS AC=28;AF=0.0467252;AN=214;NS=2504;DP=20358;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.0386;EUR_AF=0.1014;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0467252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77105137;CLNALLELEID=255262;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0932;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0430;ExAC_nontcga_AMR=0.0456;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0599;ExAC_nontcga_NFE=0.0927;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0356;AF=0.0699;AF_popmax=0.0926;AF_male=0.0689;AF_female=0.0713;AF_raw=0.0699;AF_afr=0.0396;AF_sas=.;AF_amr=0.0696;AF_eas=0;AF_nfe=0.0926;AF_fin=0.0647;AF_asj=0.1690;AF_oth=0.0818;non_topmed_AF_popmax=0.0917;non_neuro_AF_popmax=0.0935;non_cancer_AF_popmax=.;controls_AF_popmax=0.0853;Kaviar_AF=0.0682074;Kaviar_AC=10545;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.104167::0.563362;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.955257;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48756163 rs141925790 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48756199 rs151180372 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20514;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon41:c.T4962C:p.T1654T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151180372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.848e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.554e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.705529;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48758132 rs55694948 A C 100 PASS AC=36;AF=0.207268;AN=214;NS=2504;DP=19256;EAS_AF=0.2123;AMR_AF=0.1527;AFR_AF=0.2776;EUR_AF=0.163;SAS_AF=0.1912;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207268;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55694948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1794;AF_popmax=0.2445;AF_male=0.1813;AF_female=0.1770;AF_raw=0.1796;AF_afr=0.2445;AF_sas=.;AF_amr=0.1592;AF_eas=0.1968;AF_nfe=0.1505;AF_fin=0.1448;AF_asj=0.2241;AF_oth=0.1572;non_topmed_AF_popmax=0.2448;non_neuro_AF_popmax=0.2429;non_cancer_AF_popmax=.;controls_AF_popmax=0.2434;Kaviar_AF=0.030323;Kaviar_AC=4688;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.181818::0.626048;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48760067 rs2279233 G A 100 PASS AC=2;AF=0.047524;AN=214;NS=2504;DP=19866;EAS_AF=0.0982;AMR_AF=0.0187;AFR_AF=0.0318;EUR_AF=0.0109;SAS_AF=0.0746;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.047524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2279233;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0193;AF_popmax=0.0580;AF_male=0.0197;AF_female=0.0189;AF_raw=0.0194;AF_afr=0.0318;AF_sas=.;AF_amr=0.0472;AF_eas=0.0580;AF_nfe=0.0082;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0202;non_topmed_AF_popmax=0.0581;non_neuro_AF_popmax=0.0580;non_cancer_AF_popmax=.;controls_AF_popmax=0.0569;Kaviar_AF=0.0042367;Kaviar_AC=655;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.051856;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760087 rs200806415 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19449;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200806415;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.437e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.605088;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760750 rs55840194 T C 100 PASS AC=2;AF=0.0405351;AN=214;NS=2504;DP=16884;EAS_AF=0.0982;AMR_AF=0.0159;AFR_AF=0.0068;EUR_AF=0.0109;SAS_AF=0.0746;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0405351;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55840194;CLNALLELEID=141011;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0101;ExAC_nontcga_ALL=0.0260;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0589;ExAC_nontcga_EAS=0.0813;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0189;ExAC_nontcga_SAS=0.0413;AF=0.0141;AF_popmax=0.0586;AF_male=0.0145;AF_female=0.0136;AF_raw=0.0141;AF_afr=0.0138;AF_sas=.;AF_amr=0.0425;AF_eas=0.0586;AF_nfe=0.0082;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0166;non_topmed_AF_popmax=0.0587;non_neuro_AF_popmax=0.0586;non_cancer_AF_popmax=.;controls_AF_popmax=0.0548;Kaviar_AF=0.0233826;Kaviar_AC=3615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1754562|N/A|IGF1R|PAZAR,OREG1755146|N/A|IGF1R|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.100079;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48760805 rs188752564 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18308;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188752564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0037;AF_male=0.0024;AF_female=0.0034;AF_raw=0.0029;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0037;AF_fin=0.0058;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.378979;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48763008 rs75227249 A T 100 PASS AC=15;AF=0.0682907;AN=214;NS=2504;DP=18129;EAS_AF=0.0248;AMR_AF=0.0951;AFR_AF=0.0416;EUR_AF=0.1302;SAS_AF=0.0665;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0682907;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75227249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1103;AF_popmax=0.1406;AF_male=0.1058;AF_female=0.1159;AF_raw=0.1102;AF_afr=0.0397;AF_sas=.;AF_amr=0.0531;AF_eas=0.0372;AF_nfe=0.1406;AF_fin=0.1885;AF_asj=0.0590;AF_oth=0.1572;non_topmed_AF_popmax=0.1482;non_neuro_AF_popmax=0.1415;non_cancer_AF_popmax=.;controls_AF_popmax=0.1718;Kaviar_AF=0.0169144;Kaviar_AC=2615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48764709 rs151321101 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17428;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151321101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.753779;ALLELE_END;VINYL_score=3 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48764942 rs16960981 A G 100 PASS AC=2;AF=0.110024;AN=214;NS=2504;DP=20511;EAS_AF=0.3323;AMR_AF=0.085;AFR_AF=0.0182;EUR_AF=0.0189;SAS_AF=0.1166;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.110024;GWAS=rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295;ORegAnno_REGULATORY_P=rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295;avsnp150=rs16960981;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0402;AF_popmax=0.3164;AF_male=0.0424;AF_female=0.0375;AF_raw=0.0403;AF_afr=0.0259;AF_sas=.;AF_amr=0.1191;AF_eas=0.3164;AF_nfe=0.0194;AF_fin=0.0282;AF_asj=0.0138;AF_oth=0.0395;non_topmed_AF_popmax=0.3157;non_neuro_AF_popmax=0.3164;non_cancer_AF_popmax=.;controls_AF_popmax=0.3279;Kaviar_AF=0.0099999;Kaviar_AC=1546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48766737 rs202192505 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon33:c.A4075G:p.I1359V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202192505;CLNALLELEID=510593;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.343;SIFT_converted_rankscore=0.126;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.292;LRT_pred=N;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=D;MutationAssessor_score=0.79;MutationAssessor_score_rankscore=0.196;MutationAssessor_pred=N;FATHMM_score=-2.21;FATHMM_converted_rankscore=0.870;FATHMM_pred=D;PROVEAN_score=-0.5;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=-0.912;MetaSVM_rankscore=0.467;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_rankscore=0.660;MetaLR_pred=T;M-CAP_score=0.034;M-CAP_rankscore=0.554;M-CAP_pred=D;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.242;CADD_raw_rankscore=0.117;CADD_phred=5.120;DANN_score=0.805;DANN_rankscore=0.128;fathmm-MKL_coding_score=0.763;fathmm-MKL_coding_rankscore=0.371;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.938;Eigen-PC-raw=-0.791;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.302;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-0.526;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=0.190;phyloP100way_vertebrate_rankscore=0.167;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=8.958;SiPhy_29way_logOdds_rankscore=0.348;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|EGF-like,_conserved_site|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=9.419e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1416737|N/A|E2F1|PAZAR,OREG1274672|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.724406;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779200 rs72132658 AATAAC A 100 PASS AC=47;AF=0.301318;AN=214;NS=2504;DP=17471;EAS_AF=0.3512;AMR_AF=0.255;AFR_AF=0.3729;EUR_AF=0.2525;SAS_AF=0.2362;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.301318;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138563627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2637;AF_popmax=0.3312;AF_male=0.2630;AF_female=0.2645;AF_raw=0.2673;AF_afr=0.2820;AF_sas=.;AF_amr=0.2311;AF_eas=0.3312;AF_nfe=0.2470;AF_fin=0.2655;AF_asj=0.2238;AF_oth=0.2877;non_topmed_AF_popmax=0.3296;non_neuro_AF_popmax=0.3312;non_cancer_AF_popmax=.;controls_AF_popmax=0.3462;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 +15 48779231 rs55651064;rs72158035 GTAAAA ATAAAA,G 100 PASS AC=1,16;AF=0.0235623,0.196685;AN=214;NS=2504;DP=17890;EAS_AF=0,0.3512;AMR_AF=0.0115,0.1787;AFR_AF=0.0764,0.1611;EUR_AF=0.002,0.1461;SAS_AF=0.0072,0.1503;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0235623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55651064;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0391;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0024;AF=0.0166;AF_popmax=0.0546;AF_male=0.0160;AF_female=0.0174;AF_raw=0.0182;AF_afr=0.0546;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0003;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0587;non_cancer_AF_popmax=.;controls_AF_popmax=0.0592;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.196685;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72158035;CLNALLELEID=255266;CLNDN=Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1656;ExAC_nontcga_ALL=0.1543;ExAC_nontcga_AFR=0.2119;ExAC_nontcga_AMR=0.2741;ExAC_nontcga_EAS=0.3802;ExAC_nontcga_FIN=0.3071;ExAC_nontcga_NFE=0.1299;ExAC_nontcga_OTH=0.1825;ExAC_nontcga_SAS=0.1404;AF=0.1719;AF_popmax=0.3279;AF_male=0.1710;AF_female=0.1730;AF_raw=0.1748;AF_afr=0.1698;AF_sas=.;AF_amr=0.1614;AF_eas=0.3279;AF_nfe=0.1535;AF_fin=0.1958;AF_asj=0.0625;AF_oth=0.1960;non_topmed_AF_popmax=0.3262;non_neuro_AF_popmax=0.3279;non_cancer_AF_popmax=.;controls_AF_popmax=0.3415;Kaviar_AF=0.0082017;Kaviar_AC=1268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 2|2 0|0 2|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 2|0 0|0 0|0 0|2 0|0 0|0 0|2 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|2 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779402 rs11853943 C T 100 PASS AC=16;AF=0.196486;AN=214;NS=2504;DP=15025;EAS_AF=0.3512;AMR_AF=0.1787;AFR_AF=0.1604;EUR_AF=0.1461;SAS_AF=0.1503;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11853943;CLNALLELEID=141008;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.1390;ExAC_nontcga_ALL=0.1741;ExAC_nontcga_AFR=0.1698;ExAC_nontcga_AMR=0.1956;ExAC_nontcga_EAS=0.3551;ExAC_nontcga_FIN=0.2033;ExAC_nontcga_NFE=0.1510;ExAC_nontcga_OTH=0.1744;ExAC_nontcga_SAS=0.1399;AF=0.1754;AF_popmax=0.3333;AF_male=0.1742;AF_female=0.1770;AF_raw=0.1758;AF_afr=0.1703;AF_sas=.;AF_amr=0.1647;AF_eas=0.3333;AF_nfe=0.1556;AF_fin=0.2089;AF_asj=0.0621;AF_oth=0.2044;non_topmed_AF_popmax=0.3318;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.3476;Kaviar_AF=0.166641;Kaviar_AC=25763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.442579;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779550 rs2228241 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18969;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon28:c.C3422T:p.P1141L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228241;CLNALLELEID=51504;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.575;MutationAssessor_score_rankscore=0.398;MutationAssessor_pred=L;FATHMM_score=-2.46;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-8.85;PROVEAN_converted_rankscore=0.979;PROVEAN_pred=D;VEST3_score=0.727;VEST3_rankscore=0.726;MetaSVM_score=0.580;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.790;MetaLR_rankscore=0.929;MetaLR_pred=D;M-CAP_score=0.105;M-CAP_rankscore=0.781;M-CAP_pred=D;REVEL_score=0.694;REVEL_rankscore=0.891;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.283;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.944;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.784;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=9.356;phyloP100way_vertebrate_rankscore=0.965;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.827;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=19.208;SiPhy_29way_logOdds_rankscore=0.937;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=6.48e-05;AF_male=0.0003;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0.0207;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.597762;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779604 rs201336778 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19423;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon28:c.T3368A:p.L1123Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201336778;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.165;MutationAssessor_score_rankscore=0.299;MutationAssessor_pred=L;FATHMM_score=-2.22;FATHMM_converted_rankscore=0.871;FATHMM_pred=D;PROVEAN_score=-5.07;PROVEAN_converted_rankscore=0.828;PROVEAN_pred=D;VEST3_score=0.855;VEST3_rankscore=0.842;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.745;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=0.300;M-CAP_rankscore=0.909;M-CAP_pred=D;REVEL_score=0.815;REVEL_rankscore=0.941;MutPred_score=0.618;MutPred_rankscore=0.753;CADD_raw=5.592;CADD_raw_rankscore=0.761;CADD_phred=26.5;DANN_score=0.995;DANN_rankscore=0.688;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.940;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.691;Eigen-PC-raw=0.662;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.928;phyloP100way_vertebrate_rankscore=0.755;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.448;phastCons20way_mammalian_rankscore=0.262;SiPhy_29way_logOdds=15.442;SiPhy_29way_logOdds_rankscore=0.748;Interpro_domain=EGF-like_calcium-binding_domain|EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.638421;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48779649 rs200496779 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200496779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.188e-05;AF_popmax=.;AF_male=0;AF_female=7.19e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.792642;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48780504 rs143836403 TTAAAGA T 100 PASS 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FBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.629521;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +15 48780551 rs532545840 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20408;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532545840;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.750919;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48782072 rs111801777 T C 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=18649;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.A3058G:p.T1020A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111801777;CLNALLELEID=51495;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.042;SIFT_converted_rankscore=0.416;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.382;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.208;MutationTaster_pred=N;MutationAssessor_score=0.335;MutationAssessor_score_rankscore=0.104;MutationAssessor_pred=N;FATHMM_score=-1.47;FATHMM_converted_rankscore=0.811;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_converted_rankscore=0.162;PROVEAN_pred=N;VEST3_score=0.657;VEST3_rankscore=0.670;MetaSVM_score=-0.690;MetaSVM_rankscore=0.610;MetaSVM_pred=T;MetaLR_score=0.273;MetaLR_rankscore=0.645;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.540;M-CAP_pred=D;REVEL_score=0.388;REVEL_rankscore=0.708;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.075;CADD_raw_rankscore=0.310;CADD_phred=16.70;DANN_score=0.990;DANN_rankscore=0.504;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_rankscore=0.507;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.181;Eigen-PC-raw=0.028;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.451;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=1.493;phyloP100way_vertebrate_rankscore=0.350;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.828;phastCons100way_vertebrate_rankscore=0.299;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=7.151;SiPhy_29way_logOdds_rankscore=0.246;Interpro_domain=TB_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0005;AF=0.0005;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0004;AF_raw=0.0005;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0012;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.682927;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48782151 rs150126098 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16948;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon25:c.C2979T:p.C993C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150126098;CLNALLELEID=339286;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=6.485e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.638291;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787360 rs202163602 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14811;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon22:c.C2637T:p.L879L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202163602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.946e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.538e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718617;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787523 rs140273313 T C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=17245;EAS_AF=0;AMR_AF=0;AFR_AF=0.0098;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140273313;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0014;AF_popmax=0.0048;AF_male=0.0015;AF_female=0.0013;AF_raw=0.0014;AF_afr=0.0048;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0005763;Kaviar_AC=15;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.606575;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48787842 rs149403312 TA T 100 PASS AC=2;AF=0.0197684;AN=214;NS=2504;DP=18238;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0635;EUR_AF=0.003;SAS_AF=0.0051;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149403312;CLNALLELEID=44712;CLNDN=Marfan_syndrome;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0170;AF_popmax=0.0564;AF_male=0.0161;AF_female=0.0182;AF_raw=0.0171;AF_afr=0.0564;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0563;non_neuro_AF_popmax=0.0617;non_cancer_AF_popmax=.;controls_AF_popmax=0.0626;Kaviar_AF=0.0009605;Kaviar_AC=25;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.169305;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48788436 rs201446948 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16601;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201446948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.555e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.182e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.104239;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48789634 rs140605 T C 100 PASS AC=49;AF=0.378594;AN=214;NS=2504;DP=19155;EAS_AF=0.3522;AMR_AF=0.268;AFR_AF=0.6536;EUR_AF=0.2555;SAS_AF=0.2393;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.378594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140605;CLNALLELEID=255271;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2427;ExAC_nontcga_ALL=0.2958;ExAC_nontcga_AFR=0.6062;ExAC_nontcga_AMR=0.2613;ExAC_nontcga_EAS=0.3787;ExAC_nontcga_FIN=0.2713;ExAC_nontcga_NFE=0.2643;ExAC_nontcga_OTH=0.2748;ExAC_nontcga_SAS=0.2306;AF=0.3505;AF_popmax=0.5778;AF_male=0.3517;AF_female=0.3490;AF_raw=0.3506;AF_afr=0.5778;AF_sas=.;AF_amr=0.2453;AF_eas=0.3329;AF_nfe=0.2528;AF_fin=0.2728;AF_asj=0.2276;AF_oth=0.3078;non_topmed_AF_popmax=0.5787;non_neuro_AF_popmax=0.5743;non_cancer_AF_popmax=.;controls_AF_popmax=0.5772;Kaviar_AF=0.276128;Kaviar_AC=42690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.045016;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 +15 48797146 rs17361868 C T 100 PASS AC=6;AF=0.0756789;AN=214;NS=2504;DP=20308;EAS_AF=0.1538;AMR_AF=0.0879;AFR_AF=0.0045;EUR_AF=0.0547;SAS_AF=0.1043;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17361868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0527;AF_popmax=0.1532;AF_male=0.0537;AF_female=0.0514;AF_raw=0.0526;AF_afr=0.0119;AF_sas=.;AF_amr=0.0837;AF_eas=0.1532;AF_nfe=0.0568;AF_fin=0.0800;AF_asj=0.0655;AF_oth=0.0607;non_topmed_AF_popmax=0.1537;non_neuro_AF_popmax=0.1532;non_cancer_AF_popmax=.;controls_AF_popmax=0.1430;Kaviar_AF=0.0100257;Kaviar_AC=1550;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0530303::0.739904;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797158 rs113577695 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20065;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113577695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.552e-05;AF_popmax=0.0006;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.144336;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797192 rs25459 C T 100 PASS AC=2;AF=0.0221645;AN=214;NS=2504;DP=18899;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0726;EUR_AF=0.003;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25459;CLNALLELEID=255273;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0073;ExAC_nontcga_AFR=0.0609;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0179;AF_popmax=0.0595;AF_male=0.0172;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0595;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0595;non_neuro_AF_popmax=0.0630;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0071733;Kaviar_AC=1109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48797307 rs25458 A G 100 PASS AC=18;AF=0.296925;AN=214;NS=2504;DP=19066;EAS_AF=0.3522;AMR_AF=0.2046;AFR_AF=0.5106;EUR_AF=0.1501;SAS_AF=0.1677;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25458;CLNALLELEID=51467;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1420;ExAC_nontcga_ALL=0.2043;ExAC_nontcga_AFR=0.4635;ExAC_nontcga_AMR=0.2080;ExAC_nontcga_EAS=0.3557;ExAC_nontcga_FIN=0.2031;ExAC_nontcga_NFE=0.1539;ExAC_nontcga_OTH=0.1859;ExAC_nontcga_SAS=0.1548;AF=0.2575;AF_popmax=0.4592;AF_male=0.2574;AF_female=0.2575;AF_raw=0.2578;AF_afr=0.4592;AF_sas=.;AF_amr=0.1706;AF_eas=0.3338;AF_nfe=0.1581;AF_fin=0.2098;AF_asj=0.0621;AF_oth=0.2188;non_topmed_AF_popmax=0.4593;non_neuro_AF_popmax=0.4679;non_cancer_AF_popmax=.;controls_AF_popmax=0.4715;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739965;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 48807637 rs4775765 C T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18317;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4775765;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000092|hsa-miR-92a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659792;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +15 48818303 rs201610317 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201610317;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48826356 rs113721547 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=15952;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon8:c.T783C:p.N261N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113721547;CLNALLELEID=242082;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.098e-05;AF=0.0012;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0017;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0038;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008538;Kaviar_AC=132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718571;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48826428 rs575688251 A G 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=16251;EAS_AF=0.005;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0082;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs575688251;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.987e-05;AF_raw=9.557e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0011;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0088032;Kaviar_AC=1361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.078443;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48888508 rs111671429 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22842;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon6:c.C510T:p.Y170Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111671429;CLNALLELEID=44750;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.929e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0013;AF_popmax=0.0025;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0013;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1274680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.698052;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48888610 rs116842662 T C 100 PASS AC=11;AF=0.0151757;AN=214;NS=2504;DP=22312;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0159;EUR_AF=0.0368;SAS_AF=0.0112;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0151757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116842662;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0158;ExAC_nontcga_AFR=0.0162;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0108;ExAC_nontcga_NFE=0.0218;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0118;AF=0.0167;AF_popmax=0.0194;AF_male=0.0169;AF_female=0.0166;AF_raw=0.0167;AF_afr=0.0172;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0194;AF_fin=0.0138;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0178;non_neuro_AF_popmax=0.0195;non_cancer_AF_popmax=.;controls_AF_popmax=0.0171;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1274680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.871569;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +15 48892427 rs201083095 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20948;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon5:c.A351T:p.Q117H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201083095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.501;MutationTaster_pred=D;MutationAssessor_score=2.77;MutationAssessor_score_rankscore=0.812;MutationAssessor_pred=M;FATHMM_score=-1.58;FATHMM_converted_rankscore=0.820;FATHMM_pred=D;PROVEAN_score=-2.71;PROVEAN_converted_rankscore=0.577;PROVEAN_pred=D;VEST3_score=0.837;VEST3_rankscore=0.824;MetaSVM_score=0.245;MetaSVM_rankscore=0.867;MetaSVM_pred=D;MetaLR_score=0.643;MetaLR_rankscore=0.875;MetaLR_pred=D;M-CAP_score=0.168;M-CAP_rankscore=0.847;M-CAP_pred=D;REVEL_score=0.505;REVEL_rankscore=0.789;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.225;CADD_raw_rankscore=0.566;CADD_phred=23.9;DANN_score=0.994;DANN_rankscore=0.637;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.553;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.511;Eigen-PC-raw=0.476;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.388;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=1.550;phyloP100way_vertebrate_rankscore=0.356;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=8.502;SiPhy_29way_logOdds_rankscore=0.321;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.685e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.646845;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48892504 rs28730799 T C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=22554;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0060;AF_popmax=0.0142;AF_male=0.0060;AF_female=0.0060;AF_raw=0.0060;AF_afr=0.0023;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0015136;Kaviar_AC=234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.646387;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 48902965 rs25388 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18663;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon4:c.C306T:p.C102C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs25388;CLNALLELEID=141017;CLNDN=Ectopia_lentis|Connective_tissue_disorder|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0009782|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0076;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0004;AF=0.0031;AF_popmax=0.0038;AF_male=0.0030;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0086;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0040232;Kaviar_AC=622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.720767;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63335907 rs201720832 C G 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=11658;EAS_AF=0.0069;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018007:exon2:c.C117G:p.L39L,TPM1:NM_001018020:exon2:c.C117G:p.L39L,TPM1:NM_001301244:exon2:c.C117G:p.L39L;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201720832;CLNALLELEID=52853;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0.0141;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0083;AF=0.0008;AF_popmax=0.0147;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0147;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0147;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896019;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63335910 rs397516491 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11686;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018007:exon2:c.G120A:p.E40E,TPM1:NM_001018020:exon2:c.G120A:p.E40E,TPM1:NM_001301244:exon2:c.G120A:p.E40E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516491;CLNALLELEID=52854;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0001;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896019;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63336099 rs62013181 C G 100 PASS AC=17;AF=0.028754;AN=214;NS=2504;DP=14796;EAS_AF=0.001;AMR_AF=0.0692;AFR_AF=0.0023;EUR_AF=0.0815;SAS_AF=0.0102;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62013181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0560;AF_popmax=0.0799;AF_male=0.0553;AF_female=0.0568;AF_raw=0.0561;AF_afr=0.0173;AF_sas=.;AF_amr=0.0625;AF_eas=0;AF_nfe=0.0799;AF_fin=0.0697;AF_asj=0.0552;AF_oth=0.0579;non_topmed_AF_popmax=0.0784;non_neuro_AF_popmax=0.0794;non_cancer_AF_popmax=.;controls_AF_popmax=0.0622;Kaviar_AF=0.0668895;Kaviar_AC=1741;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921063;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +15 63340705 rs111470259 C T 100 PASS AC=16;AF=0.210863;AN=214;NS=2504;DP=9430;EAS_AF=0.4345;AMR_AF=0.1715;AFR_AF=0.0537;EUR_AF=0.0954;SAS_AF=0.3395;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC100128979;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111470259;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3753;ExAC_nontcga_AFR=0.1875;ExAC_nontcga_AMR=0.3056;ExAC_nontcga_EAS=0.5256;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.2085;ExAC_nontcga_OTH=0.3182;ExAC_nontcga_SAS=0.4054;AF=0.1262;AF_popmax=0.4387;AF_male=0.1271;AF_female=0.125;AF_raw=0.1263;AF_afr=0.0790;AF_sas=.;AF_amr=0.1519;AF_eas=0.4387;AF_nfe=0.1184;AF_fin=0.1317;AF_asj=0.0621;AF_oth=0.1467;non_topmed_AF_popmax=0.4392;non_neuro_AF_popmax=0.4387;non_cancer_AF_popmax=.;controls_AF_popmax=0.4308;Kaviar_AF=0.0403552;Kaviar_AC=6239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000077719|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1725385|N/A|HNF4A|PAZAR,OREG1271416|N/A|SMARCA4|PAZAR,OREG1676422|N/A|GATA2|PAZAR,OREG1852947|N/A|RB1|PAZAR,OREG1902832|N/A|STAT1|PAZAR,OREG1190035|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.912126;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +15 63349132 rs28485524 T A 100 PASS AC=30;AF=0.126198;AN=214;NS=2504;DP=20040;EAS_AF=0.0456;AMR_AF=0.2939;AFR_AF=0.0998;EUR_AF=0.1064;SAS_AF=0.1462;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28485524;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1316;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1164;AF_popmax=0.2849;AF_male=0.1134;AF_female=0.1203;AF_raw=0.1166;AF_afr=0.1085;AF_sas=.;AF_amr=0.2849;AF_eas=0.0327;AF_nfe=0.1325;AF_fin=0.0659;AF_asj=0.1138;AF_oth=0.1029;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2518;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.0246827;Kaviar_AC=3816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.389911;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +15 63351687 rs4775614 A G 100 PASS AC=160;AF=0.861422;AN=214;NS=2504;DP=21310;EAS_AF=0.996;AMR_AF=0.8646;AFR_AF=0.8124;EUR_AF=0.7704;SAS_AF=0.8804;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.861422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4775614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8099;AF_popmax=0.9942;AF_male=0.8136;AF_female=0.8052;AF_raw=0.8097;AF_afr=0.8013;AF_sas=.;AF_amr=0.8608;AF_eas=0.9942;AF_nfe=0.8018;AF_fin=0.7781;AF_asj=0.7586;AF_oth=0.8039;non_topmed_AF_popmax=0.9941;non_neuro_AF_popmax=0.9942;non_cancer_AF_popmax=.;controls_AF_popmax=0.9912;Kaviar_AF=0.161246;Kaviar_AC=24929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.656370;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 +15 63351736 rs182734513 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21180;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182734513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0025;AF=9.553e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.215568;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63351840 rs1071646 C A 100 PASS AC=130;AF=0.705671;AN=214;NS=2504;DP=20013;EAS_AF=0.9504;AMR_AF=0.5591;AFR_AF=0.6112;EUR_AF=0.66;SAS_AF=0.7321;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;1000g2015aug_all=0.705671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1071646;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6458;ExAC_nontcga_ALL=0.6753;ExAC_nontcga_AFR=0.6158;ExAC_nontcga_AMR=0.5617;ExAC_nontcga_EAS=0.9593;ExAC_nontcga_FIN=0.6981;ExAC_nontcga_NFE=0.6555;ExAC_nontcga_OTH=0.6729;ExAC_nontcga_SAS=0.7059;AF=0.6602;AF_popmax=0.9602;AF_male=0.6648;AF_female=0.6544;AF_raw=0.6597;AF_afr=0.6109;AF_sas=.;AF_amr=0.5650;AF_eas=0.9602;AF_nfe=0.6539;AF_fin=0.6963;AF_asj=0.6379;AF_oth=0.6783;non_topmed_AF_popmax=0.9592;non_neuro_AF_popmax=0.9602;non_cancer_AF_popmax=.;controls_AF_popmax=0.9562;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739207;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 0|1 1|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 0|0 1|0 1|1 0|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 0|0 1|1 1|0 1|0 0|1 1|0 1|0 1|1 1|1 1|0 0|0 +15 63351873 rs11558747 T C 100 PASS AC=15;AF=0.0241613;AN=214;NS=2504;DP=19741;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0015;EUR_AF=0.0676;SAS_AF=0.0204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.T378C:p.Y126Y,TPM1:NM_001301289:exon3:c.T378C:p.Y126Y,TPM1:NM_001330344:exon3:c.T378C:p.Y126Y,TPM1:NM_001330346:exon3:c.T378C:p.Y126Y,TPM1:NM_001330351:exon3:c.T378C:p.Y126Y,TPM1:NM_000366:exon4:c.T486C:p.Y162Y,TPM1:NM_001018004:exon4:c.T486C:p.Y162Y,TPM1:NM_001018005:exon4:c.T486C:p.Y162Y,TPM1:NM_001018006:exon4:c.T486C:p.Y162Y,TPM1:NM_001018007:exon4:c.T486C:p.Y162Y,TPM1:NM_001018020:exon4:c.T486C:p.Y162Y,TPM1:NM_001301244:exon4:c.T486C:p.Y162Y;1000g2015aug_all=0.0241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558747;CLNALLELEID=40549;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0713;ExAC_nontcga_ALL=0.0523;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0225;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0957;ExAC_nontcga_NFE=0.0779;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0173;AF=0.0530;AF_popmax=0.0706;AF_male=0.0507;AF_female=0.0559;AF_raw=0.0529;AF_afr=0.0098;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.0706;AF_fin=0.0932;AF_asj=0.1172;AF_oth=0.0809;non_topmed_AF_popmax=0.0730;non_neuro_AF_popmax=0.0695;non_cancer_AF_popmax=.;controls_AF_popmax=0.0794;Kaviar_AF=0.0524314;Kaviar_AC=8106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.803976;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63353451 rs144700226 A G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=21327;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001330344:exon5:c.A510G:p.A170A,TPM1:NM_001330351:exon5:c.A510G:p.A170A,TPM1:NM_000366:exon6:c.A618G:p.A206A,TPM1:NM_001018006:exon6:c.A618G:p.A206A,TPM1:NM_001018020:exon6:c.A618G:p.A206A;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144700226;CLNALLELEID=52600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0057;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0010673;Kaviar_AC=165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993718|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.871204;ALLELE_END;VINYL_score=4 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63353565 rs150837663 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20176;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150837663;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993718|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.832509;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63354009 rs28730802 G C 100 PASS AC=4;AF=0.00898562;AN=214;NS=2504;DP=17999;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0129;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0163;ExAC_nontcga_SAS=0.0298;AF=0.0076;AF_popmax=0.0120;AF_male=0.0074;AF_female=0.0078;AF_raw=0.0076;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0120;AF_fin=0.0058;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0108;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0119727;Kaviar_AC=1851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993718|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.525360;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63356184 rs143717795 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18417;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143717795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0021;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0021;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271417|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.603191;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143717795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0021;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0021;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63356237 rs147200454 C T 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=19470;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147200454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271417|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.839659;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147200454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271417|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.839659;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63358033 rs534616208 T C 100 PASS AC=1;AF=0.0151757;AN=214;NS=2504;DP=18542;EAS_AF=0.0377;AMR_AF=0.0159;AFR_AF=0.0038;EUR_AF=0.008;SAS_AF=0.0143;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0151757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534616208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0012;AF_popmax=0.0017;AF_male=0.0013;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0042646;Kaviar_AC=111;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63362256 rs191417491 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17275;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001330351:c.*114A>G\x3bNM_001018008:c.*114A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191417491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000993720|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.998416;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 63363401 rs201620283 C CATTTT,CATTTTGTTTT 100 PASS AC=48,39;AF=0.32528,0.127396;AN=214;NS=2504;DP=25145;EAS_AF=0.3978,0.1141;AMR_AF=0.3357,0.1282;AFR_AF=0.3139,0.0893;EUR_AF=0.1928,0.2217;SAS_AF=0.3947,0.0951;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*30_*31insATTTT\x3bNM_001018020:c.*30_*31insATTTT\x3bNM_001018006:c.*30_*31insATTTT\x3bNM_001018004:c.*30_*31insATTTT\x3bNM_001330351:c.*1259_*1260insATTTT\x3bNM_001330344:c.*30_*31insATTTT\x3bNM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.32528;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201620283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3492;ExAC_nontcga_AFR=0.3744;ExAC_nontcga_AMR=0.5561;ExAC_nontcga_EAS=0.5571;ExAC_nontcga_FIN=0.2168;ExAC_nontcga_NFE=0.2493;ExAC_nontcga_OTH=0.2616;ExAC_nontcga_SAS=0.4816;AF=0.3133;AF_popmax=0.5515;AF_male=0.3126;AF_female=0.3141;AF_raw=0.3139;AF_afr=0.3677;AF_sas=.;AF_amr=0.4597;AF_eas=0.5515;AF_nfe=0.2733;AF_fin=0.2297;AF_asj=0.1944;AF_oth=0.2934;non_topmed_AF_popmax=0.5501;non_neuro_AF_popmax=0.5515;non_cancer_AF_popmax=.;controls_AF_popmax=0.5520;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*30_*31insATTTTGTTTT\x3bNM_001018020:c.*30_*31insATTTTGTTTT\x3bNM_001018006:c.*30_*31insATTTTGTTTT\x3bNM_001018004:c.*30_*31insATTTTGTTTT\x3bNM_001330351:c.*1259_*1260insATTTTGTTTT\x3bNM_001330344:c.*30_*31insATTTTGTTTT\x3bNM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4631;ExAC_nontcga_AFR=0.3227;ExAC_nontcga_AMR=0.3528;ExAC_nontcga_EAS=0.4391;ExAC_nontcga_FIN=0.5428;ExAC_nontcga_NFE=0.5274;ExAC_nontcga_OTH=0.5260;ExAC_nontcga_SAS=0.3805;AF=0.4543;AF_popmax=0.5105;AF_male=0.4561;AF_female=0.4521;AF_raw=0.4540;AF_afr=0.3231;AF_sas=.;AF_amr=0.3910;AF_eas=0.4407;AF_nfe=0.5105;AF_fin=0.5355;AF_asj=0.5521;AF_oth=0.4899;non_topmed_AF_popmax=0.5088;non_neuro_AF_popmax=0.5101;non_cancer_AF_popmax=.;controls_AF_popmax=0.4969;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END;VINYL_score=1 GT 1|0 1|0 0|2 1|0 0|0 0|1 0|1 0|0 0|2 2|0 0|0 1|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 2|0 0|2 0|1 0|0 1|0 0|2 0|1 0|1 0|0 0|2 1|2 2|0 0|1 2|0 0|0 1|0 0|1 0|2 1|0 0|1 0|1 1|0 0|0 2|0 0|2 0|2 2|0 1|0 2|0 2|0 0|2 0|2 0|0 0|2 2|0 0|0 2|0 0|1 0|1 1|0 2|0 1|0 0|2 0|1 1|0 2|0 1|0 0|2 0|1 0|1 2|1 0|1 0|1 0|0 0|0 0|0 0|2 0|0 0|0 0|1 0|0 1|0 0|1 0|2 2|0 0|0 0|0 0|1 1|0 0|2 0|1 2|0 1|0 1|2 0|1 0|0 2|1 0|1 2|0 0|1 0|1 0|2 0|1 1|0 0|2 0|1 2|0 1|0 +15 63363402 rs11558748 G A 100 PASS AC=72;AF=0.372005;AN=214;NS=2504;DP=29216;EAS_AF=0.4841;AMR_AF=0.3934;AFR_AF=0.2776;EUR_AF=0.3519;SAS_AF=0.3896;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018007:c.*31G>A\x3bNM_001018020:c.*31G>A\x3bNM_001018006:c.*31G>A\x3bNM_001018004:c.*31G>A\x3bNM_001330351:c.*1260G>A\x3bNM_001330344:c.*31G>A\x3bNM_001301289:c.*31G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.372005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558748;CLNALLELEID=255319;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0082;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.5;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0056;AF=0.0060;AF_popmax=0.3333;AF_male=0.0057;AF_female=0.0063;AF_raw=0.0013;AF_afr=0.0024;AF_sas=.;AF_amr=0;AF_eas=0.3333;AF_nfe=0.0097;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.3333;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.0210;Kaviar_AF=0.0122185;Kaviar_AC=1889;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.277992;ALLELE_END;VINYL_score=1 GT 0|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 +15 66679649 rs142027715 T TC 100 PASS AC=19;AF=0.147165;AN=214;NS=2504;DP=10040;EAS_AF=0.3214;AMR_AF=0.1326;AFR_AF=0.0938;EUR_AF=0.0835;SAS_AF=0.1155;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=MAP2K1;GeneDetail.refGene=NM_002755:c.-37_-36insC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs730880340;CLNALLELEID=49180;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0874;ExAC_nontcga_ALL=0.1082;ExAC_nontcga_AFR=0.1016;ExAC_nontcga_AMR=0.1136;ExAC_nontcga_EAS=0.3455;ExAC_nontcga_FIN=0.1429;ExAC_nontcga_NFE=0.1089;ExAC_nontcga_OTH=0.1462;ExAC_nontcga_SAS=0.0969;AF=0.0996;AF_popmax=0.3419;AF_male=0.1029;AF_female=0.0954;AF_raw=0.0992;AF_afr=0.0979;AF_sas=.;AF_amr=0.1312;AF_eas=0.3419;AF_nfe=0.0757;AF_fin=0.0898;AF_asj=0.1414;AF_oth=0.0994;non_topmed_AF_popmax=0.3446;non_neuro_AF_popmax=0.3419;non_cancer_AF_popmax=.;controls_AF_popmax=0.3377;Kaviar_AF=0.0004851;Kaviar_AC=75;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.371543;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679798 rs56149436 C G 100 PASS AC=2;AF=0.00758786;AN=214;NS=2504;DP=10342;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56149436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0179;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1176;ExAC_nontcga_NFE=0.0159;ExAC_nontcga_OTH=0.0082;ExAC_nontcga_SAS=0.0042;AF=0.0183;AF_popmax=0.0252;AF_male=0.0164;AF_female=0.0207;AF_raw=0.0185;AF_afr=0.0021;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0252;AF_fin=0.0403;AF_asj=0.0138;AF_oth=0.0138;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0048835;Kaviar_AC=755;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.844827;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679819 rs4483802 G C 100 PASS AC=21;AF=0.0361422;AN=214;NS=2504;DP=10499;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0106;EUR_AF=0.1064;SAS_AF=0.0358;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4483802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0613;AF_popmax=0.0862;AF_male=0.0602;AF_female=0.0627;AF_raw=0.0616;AF_afr=0.0222;AF_sas=.;AF_amr=0.0390;AF_eas=0;AF_nfe=0.0862;AF_fin=0.0774;AF_asj=0.0759;AF_oth=0.0720;non_topmed_AF_popmax=0.0871;non_neuro_AF_popmax=0.0868;non_cancer_AF_popmax=.;controls_AF_popmax=0.0946;Kaviar_AF=0.0581681;Kaviar_AC=1514;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0757576::-0.300821;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0808824::1.1802;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1231486|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.893784;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679850 rs71447901 TG T 100 PASS AC=21;AF=0.0361422;AN=214;NS=2504;DP=11380;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0106;EUR_AF=0.1064;SAS_AF=0.0358;AA=GG|GG|G|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71447901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0614;AF_popmax=0.0864;AF_male=0.0604;AF_female=0.0627;AF_raw=0.0615;AF_afr=0.0222;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0864;AF_fin=0.0779;AF_asj=0.0759;AF_oth=0.0704;non_topmed_AF_popmax=0.0873;non_neuro_AF_popmax=0.0869;non_cancer_AF_popmax=.;controls_AF_popmax=0.0953;Kaviar_AF=0.0107961;Kaviar_AC=281;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.859840;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66679867 rs540517860 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11783;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540517860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000078166|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.861026;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66727597 rs16949924 G C 100 PASS AC=69;AF=0.270767;AN=214;NS=2504;DP=19622;EAS_AF=0.3155;AMR_AF=0.3401;AFR_AF=0.0991;EUR_AF=0.3241;SAS_AF=0.3528;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.270767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16949924;CLNALLELEID=49254;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3353;ExAC_nontcga_ALL=0.3161;ExAC_nontcga_AFR=0.1441;ExAC_nontcga_AMR=0.3547;ExAC_nontcga_EAS=0.3207;ExAC_nontcga_FIN=0.2859;ExAC_nontcga_NFE=0.3226;ExAC_nontcga_OTH=0.2767;ExAC_nontcga_SAS=0.3748;AF=0.2651;AF_popmax=0.3432;AF_male=0.2653;AF_female=0.2650;AF_raw=0.2653;AF_afr=0.1396;AF_sas=.;AF_amr=0.3432;AF_eas=0.3127;AF_nfe=0.3215;AF_fin=0.2928;AF_asj=0.2113;AF_oth=0.2689;non_topmed_AF_popmax=0.3432;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.310293;Kaviar_AC=47972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.299632::-0.162793;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.091206;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 +15 66729250 rs16949939 C T 100 PASS AC=6;AF=0.0191693;AN=214;NS=2504;DP=20535;EAS_AF=0.0099;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0219;SAS_AF=0.0552;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16949939;CLNALLELEID=49219;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0279;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0.0139;ExAC_nontcga_FIN=0.0166;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0622;AF=0.0135;AF_popmax=0.0200;AF_male=0.0144;AF_female=0.0124;AF_raw=0.0135;AF_afr=0.0037;AF_sas=.;AF_amr=0.0094;AF_eas=0.0064;AF_nfe=0.0200;AF_fin=0.0127;AF_asj=0.0172;AF_oth=0.0147;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0200;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0263386;Kaviar_AC=4072;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +15 66735551 rs6494573 C T 100 PASS AC=193;AF=0.855232;AN=214;NS=2504;DP=14926;EAS_AF=0.999;AMR_AF=0.9352;AFR_AF=0.5946;EUR_AF=0.8926;SAS_AF=0.9642;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.855232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6494573;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8418;AF_popmax=1;AF_male=0.8412;AF_female=0.8425;AF_raw=0.8412;AF_afr=0.6358;AF_sas=.;AF_amr=0.9374;AF_eas=1;AF_nfe=0.9127;AF_fin=0.9217;AF_asj=0.9172;AF_oth=0.9084;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.177346;Kaviar_AC=27418;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.11553::-1.09836;Heart_Left_Ventricle=Heart_Left_Ventricle::0.121324::-0.857887;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.869498;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +15 66736922 rs189428720 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=17356;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189428720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0029;AF_popmax=0.0059;AF_male=0.0026;AF_female=0.0032;AF_raw=0.0029;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0009;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0004851;Kaviar_AC=75;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.245217;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66777345 rs17586159 G A 100 PASS AC=2;AF=0.00539137;AN=214;NS=2504;DP=21090;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon7:c.G711A:p.G237G;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17586159;CLNALLELEID=49224;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0107;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0165;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0054;AF=0.0117;AF_popmax=0.0182;AF_male=0.0123;AF_female=0.0111;AF_raw=0.0117;AF_afr=0.0044;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0182;AF_fin=0.0081;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0183;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.772167;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66779537 rs201809886 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18853;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201809886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.629e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.951e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.552630;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 66779698 rs41315964 C T 100 PASS AC=17;AF=0.0900559;AN=214;NS=2504;DP=16623;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.1233;EUR_AF=0.1064;SAS_AF=0.091;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0893;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0952;AF_popmax=0.1063;AF_male=0.0934;AF_female=0.0976;AF_raw=0.0952;AF_afr=0.1063;AF_sas=.;AF_amr=0.0579;AF_eas=0.0449;AF_nfe=0.0903;AF_fin=0.1172;AF_asj=0.0897;AF_oth=0.1089;non_topmed_AF_popmax=0.1070;non_neuro_AF_popmax=0.0960;non_cancer_AF_popmax=.;controls_AF_popmax=0.1028;Kaviar_AF=0.0164746;Kaviar_AC=2547;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.106061::-0.403587;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +15 66782048 rs41306345 C T 100 PASS AC=17;AF=0.0892572;AN=214;NS=2504;DP=21128;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.1203;EUR_AF=0.1064;SAS_AF=0.091;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0892572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41306345;CLNALLELEID=49230;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0854;ExAC_nontcga_ALL=0.0840;ExAC_nontcga_AFR=0.1090;ExAC_nontcga_AMR=0.0550;ExAC_nontcga_EAS=0.0467;ExAC_nontcga_FIN=0.1234;ExAC_nontcga_NFE=0.0860;ExAC_nontcga_OTH=0.1081;ExAC_nontcga_SAS=0.0846;AF=0.0949;AF_popmax=0.1057;AF_male=0.0931;AF_female=0.0972;AF_raw=0.0952;AF_afr=0.1057;AF_sas=.;AF_amr=0.0590;AF_eas=0.0449;AF_nfe=0.0899;AF_fin=0.1169;AF_asj=0.0897;AF_oth=0.1105;non_topmed_AF_popmax=0.1064;non_neuro_AF_popmax=0.0952;non_cancer_AF_popmax=.;controls_AF_popmax=0.1022;Kaviar_AF=0.0828838;Kaviar_AC=12814;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.104167::-0.407947;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.701726;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +15 66782108 rs545661620 CTATT C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21904;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SNAPC5;GeneDetail.refGene=NM_006049:c.*968_*965delAATA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516788;CLNALLELEID=53753;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0019;AF_raw=0.0018;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.356641,99.640818;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73614834 rs529004 T C 100 PASS AC=202;AF=0.859625;AN=214;NS=2504;DP=13076;EAS_AF=0.879;AMR_AF=0.9539;AFR_AF=0.7269;EUR_AF=0.9374;SAS_AF=0.8722;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3600G:p.P1200P;1000g2015aug_all=0.859625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529004;CLNALLELEID=101184;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9344;ExAC_nontcga_ALL=0.9014;ExAC_nontcga_AFR=0.7672;ExAC_nontcga_AMR=0.9645;ExAC_nontcga_EAS=0.8839;ExAC_nontcga_FIN=0.9437;ExAC_nontcga_NFE=0.9273;ExAC_nontcga_OTH=0.8857;ExAC_nontcga_SAS=0.8458;AF=0.8886;AF_popmax=0.9493;AF_male=0.8859;AF_female=0.8919;AF_raw=0.8880;AF_afr=0.7705;AF_sas=.;AF_amr=0.9493;AF_eas=0.8800;AF_nfe=0.9396;AF_fin=0.9375;AF_asj=0.8819;AF_oth=0.9216;non_topmed_AF_popmax=0.9481;non_neuro_AF_popmax=0.9422;non_cancer_AF_popmax=.;controls_AF_popmax=0.9446;Kaviar_AF=0.88158;Kaviar_AC=136294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917057;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +15 73614974 rs200896834 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11341;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3460T:p.R1154W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200896834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.924;Polyphen2_HVAR_rankscore=0.642;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.743;MutationTaster_converted_rankscore=0.338;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-4.61;FATHMM_converted_rankscore=0.979;FATHMM_pred=D;PROVEAN_score=-2.74;PROVEAN_converted_rankscore=0.582;PROVEAN_pred=D;VEST3_score=0.563;VEST3_rankscore=0.596;MetaSVM_score=1.031;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.913;MetaLR_rankscore=0.971;MetaLR_pred=D;M-CAP_score=0.480;M-CAP_rankscore=0.948;M-CAP_pred=D;REVEL_score=0.546;REVEL_rankscore=0.814;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.878;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_rankscore=0.527;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.017;Eigen-PC-raw=-0.127;GenoCanyon_score=0.946;GenoCanyon_score_rankscore=0.276;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.46;GERP++_RS_rankscore=0.289;phyloP100way_vertebrate=4.530;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=0.043;phyloP20way_mammalian_rankscore=0.157;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=10.178;SiPhy_29way_logOdds_rankscore=0.419;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.918e-05;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.729e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885622;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615084 rs140402087 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=11498;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3350T:p.P1117L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140402087;CLNALLELEID=195986;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.082;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=-4.42;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=0.254;MetaSVM_rankscore=0.868;MetaSVM_pred=D;MetaLR_score=0.812;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.293;REVEL_rankscore=0.617;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.325;CADD_raw_rankscore=0.458;CADD_phred=22.9;DANN_score=0.990;DANN_rankscore=0.499;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.781;Eigen-PC-raw=-0.798;GenoCanyon_score=0.986;GenoCanyon_score_rankscore=0.309;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=1.37;GERP++_RS_rankscore=0.211;phyloP100way_vertebrate=3.358;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.003;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.620;phastCons20way_mammalian_rankscore=0.292;SiPhy_29way_logOdds=11.282;SiPhy_29way_logOdds_rankscore=0.482;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0217;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0026;AF_popmax=0.0030;AF_male=0.0024;AF_female=0.0029;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0081;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.866784;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615097 rs142735148 T C 100 PASS AC=5;AF=0.0081869;AN=214;NS=2504;DP=11518;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0068;EUR_AF=0.0129;SAS_AF=0.0133;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3337G:p.M1113V;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142735148;CLNALLELEID=141246;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=-4.08;FATHMM_converted_rankscore=0.966;FATHMM_pred=D;PROVEAN_score=-0.02;PROVEAN_converted_rankscore=0.073;PROVEAN_pred=N;VEST3_score=0.038;VEST3_rankscore=0.018;MetaSVM_score=-0.310;MetaSVM_rankscore=0.747;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_rankscore=0.764;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.311;REVEL_rankscore=0.637;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-3.599;CADD_raw_rankscore=0.000;CADD_phred=0.001;DANN_score=0.364;DANN_rankscore=0.023;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.022;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.844;Eigen-PC-raw=-1.832;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.11;GERP++_RS_rankscore=0.027;phyloP100way_vertebrate=-0.425;phyloP100way_vertebrate_rankscore=0.070;phyloP20way_mammalian=-0.729;phyloP20way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.762;phastCons20way_mammalian_rankscore=0.325;SiPhy_29way_logOdds=10.555;SiPhy_29way_logOdds_rankscore=0.441;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0113;ExAC_nontcga_AMR=0.0355;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0322;ExAC_nontcga_OTH=0.0169;ExAC_nontcga_SAS=0.0279;AF=0.0085;AF_popmax=0.0119;AF_male=0.0075;AF_female=0.0098;AF_raw=0.0085;AF_afr=0.0063;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0092;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0123;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.008247;Kaviar_AC=1275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.847514;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +15 73615146 rs116042117 G A 100 PASS AC=1;AF=0.0071885;AN=214;NS=2504;DP=11125;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0219;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C3288T:p.D1096D;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116042117;CLNALLELEID=177764;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0267;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=0.0044;AF_popmax=0.0151;AF_male=0.0042;AF_female=0.0047;AF_raw=0.0044;AF_afr=0.0151;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0154;non_cancer_AF_popmax=.;controls_AF_popmax=0.0145;Kaviar_AF=0.0016106;Kaviar_AC=249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.872069;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615531 rs548194804 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=9540;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2903T:p.P968L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548194804;CLNALLELEID=374723;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.152;SIFT_converted_rankscore=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-6.2;FATHMM_converted_rankscore=0.996;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.41;VEST3_rankscore=0.468;MetaSVM_score=0.960;MetaSVM_rankscore=0.965;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.912;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.468;REVEL_rankscore=0.766;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.536;CADD_raw_rankscore=0.247;CADD_phred=13.51;DANN_score=0.983;DANN_rankscore=0.396;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_rankscore=0.419;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.661;Eigen-PC-raw=-0.616;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.335;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.93;GERP++_RS_rankscore=0.329;phyloP100way_vertebrate=5.082;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.828;phyloP20way_mammalian_rankscore=0.338;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.483;phastCons20way_mammalian_rankscore=0.268;SiPhy_29way_logOdds=9.545;SiPhy_29way_logOdds_rankscore=0.383;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.387e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.257e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.389e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.616832;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615786 rs148398509 G C 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=12064;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2648G:p.P883R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148398509;CLNALLELEID=141245;CLNDN=Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.1;FATHMM_converted_rankscore=0.773;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_converted_rankscore=0.212;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.097;MetaSVM_score=-0.973;MetaSVM_rankscore=0.366;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.186;CADD_raw_rankscore=0.112;CADD_phred=4.529;DANN_score=0.825;DANN_rankscore=0.137;fathmm-MKL_coding_score=0.381;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.687;Eigen-PC-raw=-0.632;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.6;GERP++_RS_rankscore=0.300;phyloP100way_vertebrate=2.858;phyloP100way_vertebrate_rankscore=0.478;phyloP20way_mammalian=0.751;phyloP20way_mammalian_rankscore=0.309;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.905;phastCons20way_mammalian_rankscore=0.384;SiPhy_29way_logOdds=8.988;SiPhy_29way_logOdds_rankscore=0.350;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0132;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0115;ExAC_nontcga_OTH=0.0237;ExAC_nontcga_SAS=0.0026;AF=0.0077;AF_popmax=0.0121;AF_male=0.0074;AF_female=0.0081;AF_raw=0.0077;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0043;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668182;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73615878 rs117819825 C T 100 PASS AC=8;AF=0.0275559;AN=214;NS=2504;DP=14196;EAS_AF=0;AMR_AF=0.0821;AFR_AF=0.0023;EUR_AF=0.0348;SAS_AF=0.044;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2556A:p.P852P;1000g2015aug_all=0.0275559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117819825;CLNALLELEID=101183;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0488;ExAC_nontcga_ALL=0.0451;ExAC_nontcga_AFR=0.0117;ExAC_nontcga_AMR=0.1085;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0215;ExAC_nontcga_NFE=0.0471;ExAC_nontcga_OTH=0.0408;ExAC_nontcga_SAS=0.0443;AF=0.0339;AF_popmax=0.0884;AF_male=0.0340;AF_female=0.0337;AF_raw=0.0339;AF_afr=0.0120;AF_sas=.;AF_amr=0.0884;AF_eas=0.0006;AF_nfe=0.0483;AF_fin=0.0228;AF_asj=0.0345;AF_oth=0.0441;non_topmed_AF_popmax=0.0877;non_neuro_AF_popmax=0.0866;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0447148;Kaviar_AC=6913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712799;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +15 73615940 rs200058167 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12521;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2494T:p.L832L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200058167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.943e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.76e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611743;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73616252 rs200468312 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12753;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2182A:p.D728N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200468312;CLNALLELEID=529037;CLNDN=Brugada_syndrome_8;CLNDISDB=MedGen:C2751083,OMIM:613123;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.033;SIFT_converted_rankscore=0.443;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.697;Polyphen2_HVAR_rankscore=0.522;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.463;MutationTaster_pred=D;MutationAssessor_score=1.96;MutationAssessor_score_rankscore=0.533;MutationAssessor_pred=M;FATHMM_score=-1.85;FATHMM_converted_rankscore=0.843;FATHMM_pred=D;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=0.267;MetaSVM_rankscore=0.870;MetaSVM_pred=D;MetaLR_score=0.605;MetaLR_rankscore=0.860;MetaLR_pred=D;M-CAP_score=0.154;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.400;REVEL_rankscore=0.717;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.312;CADD_raw_rankscore=0.457;CADD_phred=22.9;DANN_score=0.995;DANN_rankscore=0.669;fathmm-MKL_coding_score=0.892;fathmm-MKL_coding_rankscore=0.492;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.359;Eigen-PC-raw=0.307;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.46;GERP++_RS_rankscore=0.386;phyloP100way_vertebrate=4.903;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.803;phyloP20way_mammalian_rankscore=0.325;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.125;SiPhy_29way_logOdds_rankscore=0.720;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.637e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=0.0012;AF_male=5.735e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.919174;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73616635 rs481579 T C 100 PASS AC=202;AF=0.772963;AN=214;NS=2504;DP=12930;EAS_AF=0.8135;AMR_AF=0.9438;AFR_AF=0.469;EUR_AF=0.9314;SAS_AF=0.8579;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.772963;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs481579;CLNALLELEID=255358;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9314;ExAC_nontcga_ALL=0.8747;ExAC_nontcga_AFR=0.5441;ExAC_nontcga_AMR=0.9544;ExAC_nontcga_EAS=0.8232;ExAC_nontcga_FIN=0.9351;ExAC_nontcga_NFE=0.9241;ExAC_nontcga_OTH=0.8942;ExAC_nontcga_SAS=0.8374;AF=0.8193;AF_popmax=0.9348;AF_male=0.8140;AF_female=0.8259;AF_raw=0.8188;AF_afr=0.5484;AF_sas=.;AF_amr=0.9245;AF_eas=0.8224;AF_nfe=0.9348;AF_fin=0.9272;AF_asj=0.8621;AF_oth=0.8989;non_topmed_AF_popmax=0.9357;non_neuro_AF_popmax=0.9335;non_cancer_AF_popmax=.;controls_AF_popmax=0.9383;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 +15 73617239 rs117448777 C T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=17539;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117448777;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0088;AF_popmax=0.0131;AF_male=0.0082;AF_female=0.0095;AF_raw=0.0088;AF_afr=0.0028;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0075;AF_asj=0.0138;AF_oth=0.0175;non_topmed_AF_popmax=0.0137;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0020634;Kaviar_AC=319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.538347;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617250 rs41277728 C T 100 PASS AC=4;AF=0.00778754;AN=214;NS=2504;DP=17966;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0132;ExAC_nontcga_SAS=0.0102;AF=0.0134;AF_popmax=0.0218;AF_male=0.0130;AF_female=0.0140;AF_raw=0.0134;AF_afr=0.0045;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0218;AF_fin=0.0058;AF_asj=0.0103;AF_oth=0.0185;non_topmed_AF_popmax=0.0214;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0199;Kaviar_AF=0.0146052;Kaviar_AC=2258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617804 rs41279186 G T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=15747;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41279186;CLNALLELEID=141243;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0145;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0020;AF=0.0076;AF_popmax=0.0119;AF_male=0.0071;AF_female=0.0081;AF_raw=0.0076;AF_afr=0.0028;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0043;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0120;non_cancer_AF_popmax=.;controls_AF_popmax=0.0104;Kaviar_AF=0.0071539;Kaviar_AC=1106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527667;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73617851 rs150425796 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16057;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150425796;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=0.0012;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73621933 rs199852438 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.G1571A:p.R524Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199852438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.968;Polyphen2_HVAR_rankscore=0.701;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=-4.55;FATHMM_converted_rankscore=0.978;FATHMM_pred=D;PROVEAN_score=-3.82;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.53;VEST3_rankscore=0.570;MetaSVM_score=1.077;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.947;MetaLR_rankscore=0.983;MetaLR_pred=D;M-CAP_score=0.330;M-CAP_rankscore=0.918;M-CAP_pred=D;REVEL_score=0.815;REVEL_rankscore=0.941;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.335;CADD_raw_rankscore=0.875;CADD_phred=29.3;DANN_score=0.999;DANN_rankscore=0.955;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_rankscore=0.609;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.716;Eigen-PC-raw=0.655;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=7.813;phyloP100way_vertebrate_rankscore=0.845;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.532;SiPhy_29way_logOdds_rankscore=0.841;Interpro_domain=Cyclic_nucleotide-binding-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.938418;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73621946 rs12909882 G A 100 PASS AC=21;AF=0.053115;AN=214;NS=2504;DP=18042;EAS_AF=0.003;AMR_AF=0.0576;AFR_AF=0.0446;EUR_AF=0.0815;SAS_AF=0.0838;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1558T:p.L520L;1000g2015aug_all=0.053115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12909882;CLNALLELEID=141242;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0910;ExAC_nontcga_ALL=0.0854;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.0856;ExAC_nontcga_EAS=0.0017;ExAC_nontcga_FIN=0.1328;ExAC_nontcga_NFE=0.0928;ExAC_nontcga_OTH=0.1009;ExAC_nontcga_SAS=0.1048;AF=0.0861;AF_popmax=0.1063;AF_male=0.0822;AF_female=0.0910;AF_raw=0.0862;AF_afr=0.0455;AF_sas=.;AF_amr=0.0684;AF_eas=0.0019;AF_nfe=0.1063;AF_fin=0.1316;AF_asj=0.0897;AF_oth=0.1135;non_topmed_AF_popmax=0.1078;non_neuro_AF_popmax=0.1070;non_cancer_AF_popmax=.;controls_AF_popmax=0.1214;Kaviar_AF=0.0839058;Kaviar_AC=12972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933404;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 +15 73622049 rs148875639 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.G1455A:p.A485A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148875639;CLNALLELEID=510682;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.377e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925392;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73622061 rs200337785 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18023;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1443T:p.Y481Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200337785;CLNALLELEID=373684;CLNDN=Brugada_syndrome_8|not_specified;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.8e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.948e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.71e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905001;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73624463 rs200303699 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200303699;CLNALLELEID=101182;CLNDN=Brugada_syndrome_8|not_specified|not_provided;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0005;AF_popmax=0.0017;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.371777;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73660154 rs560874115 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5445;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.A458G:p.E153G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560874115;CLNALLELEID=178709;CLNDN=Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=-4.44;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=0.19;PROVEAN_converted_rankscore=0.050;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.100;MetaSVM_rankscore=0.801;MetaSVM_pred=T;MetaLR_score=0.727;MetaLR_rankscore=0.906;MetaLR_pred=D;M-CAP_score=0.983;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.187;REVEL_rankscore=0.468;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.242;CADD_raw_rankscore=0.117;CADD_phred=5.119;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.793;Eigen-PC-raw=-0.751;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.658;integrated_fitCons_score_rankscore=0.486;integrated_confidence_value=0;GERP++_RS=3.68;GERP++_RS_rankscore=0.412;phyloP100way_vertebrate=-0.098;phyloP100way_vertebrate_rankscore=0.109;phyloP20way_mammalian=-0.080;phyloP20way_mammalian_rankscore=0.119;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=3.176;SiPhy_29way_logOdds_rankscore=0.061;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0009;AF_raw=0.0011;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0037;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0010;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942508;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +15 73660505 rs143090627 C T 100 PASS AC=24;AF=0.0249601;AN=214;NS=2504;DP=7263;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0068;EUR_AF=0.0696;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G107A:p.G36E;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143090627;CLNALLELEID=141240;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-4.68;FATHMM_converted_rankscore=0.980;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.193;PROVEAN_pred=N;VEST3_score=0.124;VEST3_rankscore=0.140;MetaSVM_score=-0.316;MetaSVM_rankscore=0.745;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_rankscore=0.588;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.234;REVEL_rankscore=0.541;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.191;CADD_raw_rankscore=0.324;CADD_phred=17.45;DANN_score=0.976;DANN_rankscore=0.341;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.838;Eigen-PC-raw=-0.799;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.96;GERP++_RS_rankscore=0.251;phyloP100way_vertebrate=1.042;phyloP100way_vertebrate_rankscore=0.297;phyloP20way_mammalian=0.695;phyloP20way_mammalian_rankscore=0.298;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.954;phastCons20way_mammalian_rankscore=0.431;SiPhy_29way_logOdds=6.714;SiPhy_29way_logOdds_rankscore=0.223;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0508;ExAC_nontcga_ALL=0.0585;ExAC_nontcga_AFR=0.0335;ExAC_nontcga_AMR=0.1067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0833;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.0635;ExAC_nontcga_SAS=0.0264;AF=0.0385;AF_popmax=0.0593;AF_male=0.0355;AF_female=0.0423;AF_raw=0.0386;AF_afr=0.0110;AF_sas=.;AF_amr=0.0422;AF_eas=0;AF_nfe=0.0593;AF_fin=0.0255;AF_asj=0.0951;AF_oth=0.0428;non_topmed_AF_popmax=0.0577;non_neuro_AF_popmax=0.0588;non_cancer_AF_popmax=.;controls_AF_popmax=0.0452;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.766523;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +15 73660576 rs201193660 G C 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=8058;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C36G:p.L12L;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201193660;CLNALLELEID=101185;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0690;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0030;AF=0.0062;AF_popmax=0.0063;AF_male=0.0053;AF_female=0.0072;AF_raw=0.0063;AF_afr=0.0014;AF_sas=.;AF_amr=0.0025;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0211;AF_asj=0;AF_oth=0.0084;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0052;Kaviar_AF=0.0027684;Kaviar_AC=428;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000520949|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506778|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.852221;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +16 30913382 rs186725199 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7974;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186725199;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.437069;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +16 30913405 rs145280280 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7064;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTF1:NM_001142544:exon3:c.C148T:p.L50F,CTF1:NM_001330:exon3:c.C151T:p.L51F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145280280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.053;SIFT_converted_rankscore=0.388;SIFT_pred=T;Polyphen2_HDIV_score=0.167;Polyphen2_HDIV_rankscore=0.270;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.071;Polyphen2_HVAR_rankscore=0.265;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.371;LRT_pred=N;MutationTaster_score=0.705;MutationTaster_converted_rankscore=0.300;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-1.06;FATHMM_converted_rankscore=0.768;FATHMM_pred=T;PROVEAN_score=1.49;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.174;MetaSVM_score=-0.555;MetaSVM_rankscore=0.666;MetaSVM_pred=T;MetaLR_score=0.236;MetaLR_rankscore=0.603;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.727;M-CAP_pred=D;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.493;CADD_raw_rankscore=0.361;CADD_phred=19.42;DANN_score=0.985;DANN_rankscore=0.413;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.114;Eigen-PC-raw=0.091;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.564;integrated_fitCons_score_rankscore=0.319;integrated_confidence_value=0;GERP++_RS=5.24;GERP++_RS_rankscore=0.728;phyloP100way_vertebrate=0.926;phyloP100way_vertebrate_rankscore=0.282;phyloP20way_mammalian=0.890;phyloP20way_mammalian_rankscore=0.394;phastCons100way_vertebrate=0.967;phastCons100way_vertebrate_rankscore=0.338;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=14.336;SiPhy_29way_logOdds_rankscore=0.660;Interpro_domain=Four-helical_cytokine-like,_core;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1226096|N/A|SMARCA4|PAZAR,OREG1256361|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.573393;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +16 30913845 rs397516652 C G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=7895;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTF1:NM_001142544:exon3:c.C588G:p.P196P,CTF1:NM_001330:exon3:c.C591G:p.P197P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516652;CLNALLELEID=53349;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0357;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0091;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0011;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR,OREG0075153|N/A|TFAP2A|JASPAR,OREG1174768|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.544957;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 8192158 rs150856064 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14817;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RANGRF;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RANGRF:NM_001177801:exon1:c.C52T:p.L18F,RANGRF:NM_001177802:exon1:c.C52T:p.L18F,RANGRF:NM_001330127:exon1:c.C52T:p.L18F,RANGRF:NM_016492:exon1:c.C52T:p.L18F;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150856064;CLNALLELEID=188668;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.099;SIFT_converted_rankscore=0.313;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_rankscore=0.274;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.092;Polyphen2_HVAR_rankscore=0.285;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=0.959;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.06;MutationAssessor_score_rankscore=0.271;MutationAssessor_pred=L;FATHMM_score=-1.51;FATHMM_converted_rankscore=0.814;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.53;VEST3_rankscore=0.584;MetaSVM_score=-0.345;MetaSVM_rankscore=0.737;MetaSVM_pred=T;MetaLR_score=0.382;MetaLR_rankscore=0.738;MetaLR_pred=T;M-CAP_score=0.062;M-CAP_rankscore=0.687;M-CAP_pred=D;REVEL_score=0.474;REVEL_rankscore=0.770;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.830;CADD_raw_rankscore=0.281;CADD_phred=15.17;DANN_score=0.791;DANN_rankscore=0.122;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_rankscore=0.460;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.276;Eigen-PC-raw=-0.203;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=4.44;GERP++_RS_rankscore=0.530;phyloP100way_vertebrate=1.499;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.875;phastCons100way_vertebrate_rankscore=0.306;phastCons20way_mammalian=0.060;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=9.724;SiPhy_29way_logOdds_rankscore=0.393;Interpro_domain=Mog1/PsbP,_alpha/beta/alpha_sandwich;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0007;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1792302|N/A|RBL2|PAZAR,OREG1806025|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.632641;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 8192922 rs869773 C T 100 PASS AC=11;AF=0.141573;AN=214;NS=2504;DP=19205;EAS_AF=0.2887;AMR_AF=0.232;AFR_AF=0.0915;EUR_AF=0.0497;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF\x3bSLC25A35;GeneDetail.refGene=NM_001177802:c.*43C>T\x3bNM_001177801:c.*12C>T\x3bNM_001320871:c.*12G>A\x3bNM_201520:c.*12G>A\x3bNM_001320872:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869773;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1029;ExAC_nontcga_AFR=0.0995;ExAC_nontcga_AMR=0.3275;ExAC_nontcga_EAS=0.2682;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.0426;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.0744;AF=0.0807;AF_popmax=0.2530;AF_male=0.0829;AF_female=0.0781;AF_raw=0.0809;AF_afr=0.0977;AF_sas=.;AF_amr=0.2530;AF_eas=0.2484;AF_nfe=0.0430;AF_fin=0.0912;AF_asj=0.0897;AF_oth=0.0720;non_topmed_AF_popmax=0.2587;non_neuro_AF_popmax=0.2484;non_cancer_AF_popmax=.;controls_AF_popmax=0.2522;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF\x3bSLC25A35;GeneDetail.refGene=NM_001177802:c.*43C>T\x3bNM_001177801:c.*12C>T\x3bNM_001320871:c.*12G>A\x3bNM_201520:c.*12G>A\x3bNM_001320872:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869773;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1029;ExAC_nontcga_AFR=0.0995;ExAC_nontcga_AMR=0.3275;ExAC_nontcga_EAS=0.2682;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.0426;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.0744;AF=0.0807;AF_popmax=0.2530;AF_male=0.0829;AF_female=0.0781;AF_raw=0.0809;AF_afr=0.0977;AF_sas=.;AF_amr=0.2530;AF_eas=0.2484;AF_nfe=0.0430;AF_fin=0.0912;AF_asj=0.0897;AF_oth=0.0720;non_topmed_AF_popmax=0.2587;non_neuro_AF_popmax=0.2484;non_cancer_AF_popmax=.;controls_AF_popmax=0.2522;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +17 8192970 rs111417202 G A 100 PASS AC=2;AF=0.00778754;AN=214;NS=2504;DP=19136;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF;GeneDetail.refGene=NM_001177802:c.*91G>A\x3bNM_001177801:c.*60G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111417202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.036;esp6500siv2_ea=0.0197;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0218;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0223;ExAC_nontcga_SAS=0.0039;AF=0.0135;AF_popmax=0.0187;AF_male=0.0131;AF_female=0.0140;AF_raw=0.0135;AF_afr=0.0028;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0187;AF_fin=0.0219;AF_asj=0.0207;AF_oth=0.0166;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0176;Kaviar_AF=0.0131952;Kaviar_AC=2040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 8192987 rs140531156 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19069;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RANGRF;GeneDetail.refGene=NM_001177802:c.*108C>A\x3bNM_001177801:c.*77C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140531156;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.645e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.867e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37821770 rs2941510 C T 100 PASS AC=3;AF=0.0301518;AN=214;NS=2504;DP=16075;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0643;EUR_AF=0.0437;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2941510;CLNALLELEID=256159;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0561;ExAC_nontcga_ALL=0.0396;ExAC_nontcga_AFR=0.0692;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0515;ExAC_nontcga_NFE=0.0537;ExAC_nontcga_OTH=0.0185;ExAC_nontcga_SAS=0.0066;AF=0.0550;AF_popmax=0.0737;AF_male=0.0549;AF_female=0.0551;AF_raw=0.0550;AF_afr=0.0737;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0545;AF_fin=0.0513;AF_asj=0.0034;AF_oth=0.0386;non_topmed_AF_popmax=0.0736;non_neuro_AF_popmax=0.0688;non_cancer_AF_popmax=.;controls_AF_popmax=0.0683;Kaviar_AF=0.041112;Kaviar_AC=6356;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.546347;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37821927 rs45469691 G C 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=15929;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.006;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45469691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0077;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0076;AF=0.0016;AF_popmax=0.0020;AF_male=0.0018;AF_female=0.0014;AF_raw=0.0016;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386216;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37822174 rs45578741 C T 100 PASS AC=2;AF=0.00838658;AN=214;NS=2504;DP=16990;EAS_AF=0.002;AMR_AF=0.049;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.C316T:p.R106C;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45578741;CLNALLELEID=53873;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C4225408,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.949;Polyphen2_HVAR_rankscore=0.670;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.38;FATHMM_converted_rankscore=0.883;FATHMM_pred=D;PROVEAN_score=-5.52;PROVEAN_converted_rankscore=0.860;PROVEAN_pred=D;VEST3_score=0.881;VEST3_rankscore=0.869;MetaSVM_score=0.011;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.310;MetaLR_rankscore=0.681;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.776;REVEL_rankscore=0.926;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.733;CADD_raw_rankscore=0.919;CADD_phred=32;DANN_score=0.981;DANN_rankscore=0.379;fathmm-MKL_coding_score=0.821;fathmm-MKL_coding_rankscore=0.411;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.439;Eigen-PC-raw=0.442;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.495;integrated_fitCons_score_rankscore=0.175;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=1.289;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.912;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.757;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=17.338;SiPhy_29way_logOdds_rankscore=0.871;Interpro_domain=Titin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.1755;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0108;ExAC_nontcga_SAS=0.0018;AF=0.0060;AF_popmax=0.1285;AF_male=0.0060;AF_female=0.0061;AF_raw=0.0060;AF_afr=0.0015;AF_sas=.;AF_amr=0.1285;AF_eas=0;AF_nfe=0.0039;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1333;non_neuro_AF_popmax=0.1047;non_cancer_AF_popmax=.;controls_AF_popmax=0.1260;Kaviar_AF=0.0168885;Kaviar_AC=2611;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004804|hsa-miR-615-5p|Experimental,MIMAT0019737|hsa-miR-4664-5p|Experimental,MIMAT0004694|hsa-miR-342-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492801|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.323358;ALLELE_END;VINYL_score=10 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 37822311 rs1053651 A C 100 PASS AC=149;AF=0.54972;AN=214;NS=2504;DP=18573;EAS_AF=0.4167;AMR_AF=0.5591;AFR_AF=0.4191;EUR_AF=0.7217;SAS_AF=0.68;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;1000g2015aug_all=0.54972;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053651;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7122;ExAC_nontcga_ALL=0.6696;ExAC_nontcga_AFR=0.4362;ExAC_nontcga_AMR=0.6269;ExAC_nontcga_EAS=0.4;ExAC_nontcga_FIN=0.7367;ExAC_nontcga_NFE=0.7260;ExAC_nontcga_OTH=0.7118;ExAC_nontcga_SAS=0.7398;AF=0.6127;AF_popmax=0.7039;AF_male=0.6048;AF_female=0.6225;AF_raw=0.6123;AF_afr=0.4312;AF_sas=.;AF_amr=0.6156;AF_eas=0.3630;AF_nfe=0.7039;AF_fin=0.7429;AF_asj=0.6379;AF_oth=0.7044;non_topmed_AF_popmax=0.7055;non_neuro_AF_popmax=0.7058;non_cancer_AF_popmax=.;controls_AF_popmax=0.7006;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.331439::-0.295326;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.354663;ENSEMBLReg=Name\x3dENSR00000093970|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492801|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114223;ALLELE_END;VINYL_score=5 GT 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|0 1|0 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 0|1 +17 39911975 rs41275669 G T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16106;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JUP;GeneDetail.refGene=NM_002230:c.*21C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41275669;CLNALLELEID=141667;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0143;AF=0.0015;AF_popmax=0.0026;AF_male=0.0016;AF_female=0.0014;AF_raw=0.0015;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.265799;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39912145 rs1126821 T A 100 PASS AC=155;AF=0.58726;AN=214;NS=2504;DP=16521;EAS_AF=0.3452;AMR_AF=0.5231;AFR_AF=0.5719;EUR_AF=0.7435;SAS_AF=0.7423;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;1000g2015aug_all=0.58726;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126821;CLNALLELEID=34156;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_converted_rankscore=0.209;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.625;MutationAssessor_score_rankscore=0.021;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_converted_rankscore=0.082;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.112;MetaSVM_score=-0.959;MetaSVM_rankscore=0.394;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.242;CADD_raw_rankscore=0.214;CADD_phred=11.97;DANN_score=0.691;DANN_rankscore=0.086;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_rankscore=0.335;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.560;Eigen-PC-raw=-0.403;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.12;GERP++_RS_rankscore=0.196;phyloP100way_vertebrate=1.029;phyloP100way_vertebrate_rankscore=0.295;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=12.111;SiPhy_29way_logOdds_rankscore=0.530;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7391;ExAC_nontcga_ALL=0.6525;ExAC_nontcga_AFR=0.6048;ExAC_nontcga_AMR=0.4271;ExAC_nontcga_EAS=0.3406;ExAC_nontcga_FIN=0.6698;ExAC_nontcga_NFE=0.7257;ExAC_nontcga_OTH=0.6627;ExAC_nontcga_SAS=0.7357;AF=0.6648;AF_popmax=0.7420;AF_male=0.6612;AF_female=0.6693;AF_raw=0.6638;AF_afr=0.6008;AF_sas=.;AF_amr=0.4929;AF_eas=0.3175;AF_nfe=0.7420;AF_fin=0.6665;AF_asj=0.6724;AF_oth=0.7037;non_topmed_AF_popmax=0.7375;non_neuro_AF_popmax=0.7432;non_cancer_AF_popmax=.;controls_AF_popmax=0.7354;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.303397;ALLELE_END;VINYL_score=2.5 GT 1|1 0|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39912581 rs9890858 A G 100 PASS AC=160;AF=0.636581;AN=214;NS=2504;DP=15993;EAS_AF=0.3452;AMR_AF=0.549;AFR_AF=0.7247;EUR_AF=0.7724;SAS_AF=0.7403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.636581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9890858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7208;AF_popmax=0.7696;AF_male=0.7198;AF_female=0.7221;AF_raw=0.7205;AF_afr=0.7404;AF_sas=.;AF_amr=0.5047;AF_eas=0.3185;AF_nfe=0.7696;AF_fin=0.6885;AF_asj=0.6897;AF_oth=0.7289;non_topmed_AF_popmax=0.7652;non_neuro_AF_popmax=0.7703;non_cancer_AF_popmax=.;controls_AF_popmax=0.7579;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39912590 rs192142106 G A 100 PASS AC=3;AF=0.000798722;AN=214;NS=2504;DP=16335;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192142106;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0015;AF_male=0.0011;AF_female=0.0015;AF_raw=0.0013;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.00146;Kaviar_AC=38;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39913645 rs7216034 T C 100 PASS AC=155;AF=0.717252;AN=214;NS=2504;DP=18576;EAS_AF=0.5099;AMR_AF=0.5778;AFR_AF=0.9138;EUR_AF=0.7535;SAS_AF=0.727;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.717252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7216034;CLNALLELEID=256165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7456;ExAC_nontcga_ALL=0.7047;ExAC_nontcga_AFR=0.9008;ExAC_nontcga_AMR=0.4984;ExAC_nontcga_EAS=0.5040;ExAC_nontcga_FIN=0.7154;ExAC_nontcga_NFE=0.7367;ExAC_nontcga_OTH=0.6960;ExAC_nontcga_SAS=0.7233;AF=0.7692;AF_popmax=0.8948;AF_male=0.7700;AF_female=0.7682;AF_raw=0.7689;AF_afr=0.8948;AF_sas=.;AF_amr=0.5557;AF_eas=0.4903;AF_nfe=0.7529;AF_fin=0.7192;AF_asj=0.6828;AF_oth=0.7390;non_topmed_AF_popmax=0.8947;non_neuro_AF_popmax=0.8931;non_cancer_AF_popmax=.;controls_AF_popmax=0.8931;Kaviar_AF=0.705741;Kaviar_AC=109109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39913826 rs147482423 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17649;EAS_AF=0;AMR_AF=0;AFR_AF=0.0083;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147482423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0086;AF_male=0.0027;AF_female=0.0026;AF_raw=0.0027;AF_afr=0.0086;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147482423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0086;AF_male=0.0027;AF_female=0.0026;AF_raw=0.0027;AF_afr=0.0086;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0085;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39914070 rs8067890 G T 100 PASS AC=155;AF=0.638978;AN=214;NS=2504;DP=17904;EAS_AF=0.4653;AMR_AF=0.5432;AFR_AF=0.6974;EUR_AF=0.7525;SAS_AF=0.6902;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8067890;CLNALLELEID=256166;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7430;ExAC_nontcga_ALL=0.6713;ExAC_nontcga_AFR=0.7158;ExAC_nontcga_AMR=0.4374;ExAC_nontcga_EAS=0.4607;ExAC_nontcga_FIN=0.7110;ExAC_nontcga_NFE=0.7328;ExAC_nontcga_OTH=0.6812;ExAC_nontcga_SAS=0.7071;AF=0.7114;AF_popmax=0.7493;AF_male=0.7118;AF_female=0.7109;AF_raw=0.7117;AF_afr=0.7104;AF_sas=.;AF_amr=0.5071;AF_eas=0.4466;AF_nfe=0.7493;AF_fin=0.7119;AF_asj=0.6793;AF_oth=0.7255;non_topmed_AF_popmax=0.7463;non_neuro_AF_popmax=0.7496;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.662385;Kaviar_AC=102406;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39915057 rs149926974 T C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=14547;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon9:c.A1563G:p.A521A,JUP:NM_021991:exon9:c.A1563G:p.A521A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149926974;CLNALLELEID=55002;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0542;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0009;AF=0.0122;AF_popmax=0.0112;AF_male=0.0112;AF_female=0.0133;AF_raw=0.0123;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0494;AF_asj=0;AF_oth=0.0249;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0202;Kaviar_AF=0.0046118;Kaviar_AC=713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.242843;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39919367 rs77375949 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=20523;EAS_AF=0.003;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon8:c.C1365T:p.A455A,JUP:NM_021991:exon8:c.C1365T:p.A455A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77375949;CLNALLELEID=176821;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0046;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0002;AF_popmax=0.0039;AF_male=0.0004;AF_female=0;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.788548;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39923614 rs12942034 A G 100 PASS AC=177;AF=0.744209;AN=214;NS=2504;DP=14934;EAS_AF=0.5119;AMR_AF=0.6023;AFR_AF=0.9054;EUR_AF=0.8171;SAS_AF=0.7914;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.744209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12942034;CLNALLELEID=256168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8084;ExAC_nontcga_ALL=0.7580;ExAC_nontcga_AFR=0.8964;ExAC_nontcga_AMR=0.5040;ExAC_nontcga_EAS=0.4999;ExAC_nontcga_FIN=0.7981;ExAC_nontcga_NFE=0.8079;ExAC_nontcga_OTH=0.7595;ExAC_nontcga_SAS=0.7957;AF=0.8106;AF_popmax=0.8904;AF_male=0.8072;AF_female=0.8150;AF_raw=0.8102;AF_afr=0.8904;AF_sas=.;AF_amr=0.5696;AF_eas=0.4961;AF_nfe=0.8138;AF_fin=0.7991;AF_asj=0.7951;AF_oth=0.8050;non_topmed_AF_popmax=0.8902;non_neuro_AF_popmax=0.8852;non_cancer_AF_popmax=.;controls_AF_popmax=0.8850;Kaviar_AF=0.740928;Kaviar_AC=114549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 +17 39925713 rs41283425 C T 100 PASS AC=14;AF=0.0239617;AN=214;NS=2504;DP=18035;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0023;EUR_AF=0.0567;SAS_AF=0.0378;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.G425A:p.R142H,JUP:NM_021991:exon3:c.G425A:p.R142H;1000g2015aug_all=0.0239617;GWAS=rs41283425|Balding-type-1||8E-10|PMID:30595370;ORegAnno_REGULATORY_P=rs41283425|Balding-type-1||8E-10|PMID:30595370;avsnp150=rs41283425;CLNALLELEID=55016;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=-0.11;FATHMM_converted_rankscore=0.645;FATHMM_pred=T;PROVEAN_score=-3.95;PROVEAN_converted_rankscore=0.756;PROVEAN_pred=D;VEST3_score=0.415;VEST3_rankscore=0.765;MetaSVM_score=-0.562;MetaSVM_rankscore=0.663;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.359;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.504;REVEL_rankscore=0.789;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.586;CADD_raw_rankscore=0.953;CADD_phred=34;DANN_score=1.000;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.703;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.795;Eigen-PC-raw=0.768;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=7.896;phyloP100way_vertebrate_rankscore=0.858;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=18.433;SiPhy_29way_logOdds_rankscore=0.905;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold;GTEx_V6p_gene=ENSG00000173805.11;GTEx_V6p_tissue=Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0581;ExAC_nontcga_ALL=0.0485;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.0299;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0790;ExAC_nontcga_NFE=0.0620;ExAC_nontcga_OTH=0.0641;ExAC_nontcga_SAS=0.0499;AF=0.0453;AF_popmax=0.0675;AF_male=0.0449;AF_female=0.0458;AF_raw=0.0453;AF_afr=0.0070;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0675;AF_fin=0.0620;AF_asj=0.0724;AF_oth=0.0525;non_topmed_AF_popmax=0.0675;non_neuro_AF_popmax=0.0688;non_cancer_AF_popmax=.;controls_AF_popmax=0.0823;Kaviar_AF=0.0426062;Kaviar_AC=6587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.062306;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 39925925 rs7405731 A G 100 PASS AC=174;AF=0.715655;AN=214;NS=2504;DP=15883;EAS_AF=0.5238;AMR_AF=0.5706;AFR_AF=0.8933;EUR_AF=0.7525;SAS_AF=0.7382;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;1000g2015aug_all=0.715655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7405731;CLNALLELEID=55010;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7552;ExAC_nontcga_ALL=0.7315;ExAC_nontcga_AFR=0.8888;ExAC_nontcga_AMR=0.5431;ExAC_nontcga_EAS=0.5301;ExAC_nontcga_FIN=0.7068;ExAC_nontcga_NFE=0.7592;ExAC_nontcga_OTH=0.7371;ExAC_nontcga_SAS=0.7600;AF=0.7658;AF_popmax=0.8837;AF_male=0.7644;AF_female=0.7675;AF_raw=0.7653;AF_afr=0.8837;AF_sas=.;AF_amr=0.5660;AF_eas=0.5039;AF_nfe=0.7559;AF_fin=0.6818;AF_asj=0.8207;AF_oth=0.7426;non_topmed_AF_popmax=0.8836;non_neuro_AF_popmax=0.8828;non_cancer_AF_popmax=.;controls_AF_popmax=0.8821;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.243610;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|0 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 0|1 0|0 +17 48243312 rs75145501 C A 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=15276;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.002;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SGCA;GeneDetail.refGene=dist\x3d34;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75145501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0078;AF_popmax=0.0114;AF_male=0.0081;AF_female=0.0074;AF_raw=0.0078;AF_afr=0.0018;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0118;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0115;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0015653;Kaviar_AC=242;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.622953;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243323 rs539515085 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15434;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SGCA;GeneDetail.refGene=dist\x3d23;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539515085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=.;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.510978;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243461 rs79410682 G A 100 PASS AC=12;AF=0.0283546;AN=214;NS=2504;DP=16240;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0061;EUR_AF=0.0606;SAS_AF=0.0573;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79410682;CLNALLELEID=256266;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0627;ExAC_nontcga_ALL=0.0535;ExAC_nontcga_AFR=0.0094;ExAC_nontcga_AMR=0.0319;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0791;ExAC_nontcga_NFE=0.0692;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.0546;AF=0.0496;AF_popmax=0.0706;AF_male=0.0482;AF_female=0.0513;AF_raw=0.0497;AF_afr=0.0090;AF_sas=.;AF_amr=0.0331;AF_eas=0.0019;AF_nfe=0.0706;AF_fin=0.0783;AF_asj=0.0655;AF_oth=0.0616;non_topmed_AF_popmax=0.0715;non_neuro_AF_popmax=0.0704;non_cancer_AF_popmax=.;controls_AF_popmax=0.0695;Kaviar_AF=0.0529941;Kaviar_AC=8193;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541115;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48243504 rs9911548 C T 100 PASS AC=214;AF=0.988618;AN=214;NS=2504;DP=16321;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9599;EUR_AF=1;SAS_AF=1;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.988618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9911548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9997;ExAC_nontcga_ALL=0.9974;ExAC_nontcga_AFR=0.9712;ExAC_nontcga_AMR=0.9992;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=0.9999;AF=0.9917;AF_popmax=1;AF_male=0.9908;AF_female=0.9929;AF_raw=0.9917;AF_afr=0.9714;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.944212;Kaviar_AC=145977;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.967132;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +17 48244683 rs142537375 G C 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=14989;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.0099;SAS_AF=0.0225;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142537375;CLNALLELEID=488278;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0243;AF=0.0062;AF_popmax=0.0089;AF_male=0.0066;AF_female=0.0058;AF_raw=0.0062;AF_afr=0.0045;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0089;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0055;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0088615;Kaviar_AC=1370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000095614|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1505010|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114083;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48244932 rs140261054 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=14893;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140261054;CLNALLELEID=329103;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013713;Kaviar_AC=212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.298689;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48245269 rs59944537 C A 100 PASS AC=19;AF=0.122404;AN=214;NS=2504;DP=18938;EAS_AF=0.0337;AMR_AF=0.196;AFR_AF=0.143;EUR_AF=0.1292;SAS_AF=0.1268;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59944537;CLNALLELEID=256269;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1379;ExAC_nontcga_ALL=0.1416;ExAC_nontcga_AFR=0.1500;ExAC_nontcga_AMR=0.2271;ExAC_nontcga_EAS=0.0407;ExAC_nontcga_FIN=0.1585;ExAC_nontcga_NFE=0.1396;ExAC_nontcga_OTH=0.1556;ExAC_nontcga_SAS=0.1261;AF=0.1471;AF_popmax=0.2075;AF_male=0.1434;AF_female=0.1517;AF_raw=0.1472;AF_afr=0.1537;AF_sas=.;AF_amr=0.2075;AF_eas=0.0417;AF_nfe=0.1498;AF_fin=0.1532;AF_asj=0.1448;AF_oth=0.1400;non_topmed_AF_popmax=0.2099;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2439;Kaviar_AF=0.139222;Kaviar_AC=21524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000558161|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.568663;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +17 48245324 rs145697858 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17321;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon4:c.G329A:p.R110Q,SGCA:NM_001135697:exon4:c.G329A:p.R110Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145697858;CLNALLELEID=488615;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-4.96;FATHMM_converted_rankscore=0.985;FATHMM_pred=D;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.771;VEST3_rankscore=0.873;MetaSVM_score=1.061;MetaSVM_rankscore=0.984;MetaSVM_pred=D;MetaLR_score=0.948;MetaLR_rankscore=0.983;MetaLR_pred=D;M-CAP_score=0.195;M-CAP_rankscore=0.864;M-CAP_pred=D;REVEL_score=0.784;REVEL_rankscore=0.929;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.470;CADD_raw_rankscore=0.892;CADD_phred=29.9;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.670;Eigen-PC-raw=0.641;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.609;integrated_fitCons_score_rankscore=0.351;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=4.672;phyloP100way_vertebrate_rankscore=0.611;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.655;SiPhy_29way_logOdds_rankscore=0.616;Interpro_domain=Cadherin-like|Dystroglycan-type_cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0001;AF_male=0.0011;AF_female=0.0013;AF_raw=0.0012;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0101;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008861;Kaviar_AC=137;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000558161|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.886478;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 48245770 rs35130237 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=15504;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon5:c.C421A:p.R141S,SGCA:NM_001135697:exon5:c.C421A:p.R141S;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35130237;CLNALLELEID=194779;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.118;SIFT_converted_rankscore=0.481;SIFT_pred=T;Polyphen2_HDIV_score=0.584;Polyphen2_HDIV_rankscore=0.532;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.262;Polyphen2_HVAR_rankscore=0.448;Polyphen2_HVAR_pred=B;LRT_score=0.982;LRT_converted_rankscore=0.078;LRT_pred=N;MutationTaster_score=0.979;MutationTaster_converted_rankscore=0.263;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-4.45;FATHMM_converted_rankscore=0.975;FATHMM_pred=D;PROVEAN_score=-0.64;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.744;VEST3_rankscore=0.775;MetaSVM_score=0.252;MetaSVM_rankscore=0.868;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=0.288;M-CAP_rankscore=0.905;M-CAP_pred=D;REVEL_score=0.605;REVEL_rankscore=0.847;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.670;CADD_raw_rankscore=0.382;CADD_phred=20.6;DANN_score=0.990;DANN_rankscore=0.496;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.421;Eigen-PC-raw=-0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.29;GERP++_RS_rankscore=0.275;phyloP100way_vertebrate=0.159;phyloP100way_vertebrate_rankscore=0.161;phyloP20way_mammalian=-1.062;phyloP20way_mammalian_rankscore=0.020;phastCons100way_vertebrate=0.006;phastCons100way_vertebrate_rankscore=0.172;phastCons20way_mammalian=0.780;phastCons20way_mammalian_rankscore=0.330;SiPhy_29way_logOdds=3.664;SiPhy_29way_logOdds_rankscore=0.077;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0035;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.891253;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48247689 rs1801191 C T 100 PASS AC=7;AF=0.0786741;AN=214;NS=2504;DP=20676;EAS_AF=0.0079;AMR_AF=0.0288;AFR_AF=0.236;EUR_AF=0.0457;SAS_AF=0.0082;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon7:c.C933T:p.V311V;1000g2015aug_all=0.0786741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801191;CLNALLELEID=135741;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0416;ExAC_nontcga_ALL=0.0437;ExAC_nontcga_AFR=0.2094;ExAC_nontcga_AMR=0.0226;ExAC_nontcga_EAS=0.0080;ExAC_nontcga_FIN=0.0336;ExAC_nontcga_NFE=0.0370;ExAC_nontcga_OTH=0.0318;ExAC_nontcga_SAS=0.0105;AF=0.0840;AF_popmax=0.2058;AF_male=0.0860;AF_female=0.0815;AF_raw=0.0842;AF_afr=0.2058;AF_sas=.;AF_amr=0.0413;AF_eas=0.0090;AF_nfe=0.0399;AF_fin=0.0320;AF_asj=0.0552;AF_oth=0.0506;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.1943;non_cancer_AF_popmax=.;controls_AF_popmax=0.2023;Kaviar_AF=0.0452517;Kaviar_AC=6996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.783359;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +17 48247996 rs200098340 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17111;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200098340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668316;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48248083 rs147162020 C A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=17603;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147162020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0127;AF_popmax=0.0151;AF_male=0.0108;AF_female=0.0152;AF_raw=0.0128;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0151;AF_fin=0.0415;AF_asj=0.0034;AF_oth=0.0175;non_topmed_AF_popmax=0.0191;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0307;Kaviar_AF=0.0018442;Kaviar_AC=48;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 48252804 rs2696288 T C 100 PASS AC=207;AF=0.921925;AN=214;NS=2504;DP=18152;EAS_AF=1;AMR_AF=0.9697;AFR_AF=0.7617;EUR_AF=0.9543;SAS_AF=0.9908;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SGCA;GeneDetail.refGene=NM_000023:c.*6T>C\x3bNM_001135697:c.*6T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.921925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2696288;CLNALLELEID=178065;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9589;ExAC_nontcga_ALL=0.9580;ExAC_nontcga_AFR=0.7941;ExAC_nontcga_AMR=0.9775;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9661;ExAC_nontcga_NFE=0.9630;ExAC_nontcga_OTH=0.9659;ExAC_nontcga_SAS=0.9894;AF=0.9162;AF_popmax=1;AF_male=0.9147;AF_female=0.9179;AF_raw=0.9160;AF_afr=0.7943;AF_sas=.;AF_amr=0.9552;AF_eas=1;AF_nfe=0.9597;AF_fin=0.9680;AF_asj=0.9483;AF_oth=0.9475;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934264;Kaviar_AC=144439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248115;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 +17 68172326 rs173135 C T 100 PASS AC=24;AF=0.153954;AN=214;NS=2504;DP=20815;EAS_AF=0.131;AMR_AF=0.2392;AFR_AF=0.1551;EUR_AF=0.1203;SAS_AF=0.1503;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.C1146T:p.L382L;1000g2015aug_all=0.153954;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs173135;CLNALLELEID=141691;CLNDN=Andersen_Tawil_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1186;ExAC_nontcga_ALL=0.1354;ExAC_nontcga_AFR=0.1363;ExAC_nontcga_AMR=0.2438;ExAC_nontcga_EAS=0.1038;ExAC_nontcga_FIN=0.0918;ExAC_nontcga_NFE=0.1167;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.1552;AF=0.1184;AF_popmax=0.2182;AF_male=0.1207;AF_female=0.1155;AF_raw=0.1185;AF_afr=0.1352;AF_sas=.;AF_amr=0.2182;AF_eas=0.1023;AF_nfe=0.1121;AF_fin=0.0843;AF_asj=0.1138;AF_oth=0.1289;non_topmed_AF_popmax=0.2210;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.128841;Kaviar_AC=19919;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.932274;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 +17 78078341 rs386834236 T G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=15704;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386834236;CLNALLELEID=19066;CLNDN=Muscular_Diseases|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|Glycogen_storage_disease_II,_adult_form|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C4016981|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0049;ExAC_nontcga_OTH=0.0057;ExAC_nontcga_SAS=0.0020;AF=0.0031;AF_popmax=0.0053;AF_male=0.0032;AF_female=0.0030;AF_raw=0.0031;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0;AF_asj=0.0138;AF_oth=0.0019;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0035316;Kaviar_AC=546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.906401;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78078656 rs1800299 G A 100 PASS AC=1;AF=0.0115815;AN=214;NS=2504;DP=15176;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0053;EUR_AF=0.0278;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G271A:p.D91N,GAA:NM_001079804:exon2:c.G271A:p.D91N,GAA:NM_001079803:exon3:c.G271A:p.D91N;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800299;CLNALLELEID=19059;CLNDN=Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign,_other;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-4.31;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.165;VEST3_rankscore=0.199;MetaSVM_score=-0.791;MetaSVM_rankscore=0.557;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.414;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.396;REVEL_rankscore=0.714;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.921;CADD_raw_rankscore=0.661;CADD_phred=25.0;DANN_score=0.995;DANN_rankscore=0.650;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.814;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.618;Eigen-PC-raw=0.577;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.94;GERP++_RS_rankscore=0.645;phyloP100way_vertebrate=9.795;phyloP100way_vertebrate_rankscore=0.982;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.507;phastCons20way_mammalian_rankscore=0.272;SiPhy_29way_logOdds=16.922;SiPhy_29way_logOdds_rankscore=0.860;Interpro_domain=P-type_trefoil_domain|P-type_trefoil,_conserved_site;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0315;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0089;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0207;ExAC_nontcga_NFE=0.0309;ExAC_nontcga_OTH=0.0199;ExAC_nontcga_SAS=0.0078;AF=0.0217;AF_popmax=0.0348;AF_male=0.0215;AF_female=0.0221;AF_raw=0.0218;AF_afr=0.0060;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0164;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0358;non_neuro_AF_popmax=0.0342;non_cancer_AF_popmax=.;controls_AF_popmax=0.0355;Kaviar_AF=0.0213969;Kaviar_AC=3308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767635;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78078709 rs1800300 T C 100 PASS AC=166;AF=0.714457;AN=214;NS=2504;DP=15672;EAS_AF=0.6518;AMR_AF=0.562;AFR_AF=0.7186;EUR_AF=0.7634;SAS_AF=0.8313;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;1000g2015aug_all=0.714457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800300;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7490;ExAC_nontcga_ALL=0.7354;ExAC_nontcga_AFR=0.7095;ExAC_nontcga_AMR=0.5043;ExAC_nontcga_EAS=0.6333;ExAC_nontcga_FIN=0.8006;ExAC_nontcga_NFE=0.7670;ExAC_nontcga_OTH=0.7611;ExAC_nontcga_SAS=0.8215;AF=0.7279;AF_popmax=0.7537;AF_male=0.7221;AF_female=0.7352;AF_raw=0.7277;AF_afr=0.6914;AF_sas=.;AF_amr=0.5461;AF_eas=0.6162;AF_nfe=0.7537;AF_fin=0.7923;AF_asj=0.7690;AF_oth=0.7394;non_topmed_AF_popmax=0.7554;non_neuro_AF_popmax=0.7544;non_cancer_AF_popmax=.;controls_AF_popmax=0.7628;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591056;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78078832 rs2289536 G A 100 PASS AC=1;AF=0.00958466;AN=214;NS=2504;DP=15419;EAS_AF=0.0347;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G447A:p.T149T,GAA:NM_001079804:exon2:c.G447A:p.T149T,GAA:NM_001079803:exon3:c.G447A:p.T149T;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2289536;CLNALLELEID=134567;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0293;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0025;AF=0.0052;AF_popmax=0.0334;AF_male=0.0054;AF_female=0.0050;AF_raw=0.0053;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0.0334;AF_nfe=0.0060;AF_fin=0.0017;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0336;non_neuro_AF_popmax=0.0334;non_cancer_AF_popmax=.;controls_AF_popmax=0.0306;Kaviar_AF=0.0050129;Kaviar_AC=775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0405492|N/A|ESR2|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.651471;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78079481 rs8069491 C G 100 PASS AC=165;AF=0.602436;AN=214;NS=2504;DP=16438;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6605;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8069491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6687;AF_popmax=0.7403;AF_male=0.6615;AF_female=0.6777;AF_raw=0.6679;AF_afr=0.5354;AF_sas=.;AF_amr=0.5130;AF_eas=0.5382;AF_nfe=0.7403;AF_fin=0.7620;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7418;non_neuro_AF_popmax=0.7408;non_cancer_AF_popmax=.;controls_AF_popmax=0.7486;Kaviar_AF=0.131945;Kaviar_AC=20399;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079509 rs12452721 T G 100 PASS AC=165;AF=0.605631;AN=214;NS=2504;DP=16577;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5234;EUR_AF=0.7535;SAS_AF=0.6738;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.605631;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12452721;CLNALLELEID=256515;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7352;ExAC_nontcga_ALL=0.6719;ExAC_nontcga_AFR=0.5401;ExAC_nontcga_AMR=0.4536;ExAC_nontcga_EAS=0.5247;ExAC_nontcga_FIN=0.7626;ExAC_nontcga_NFE=0.7462;ExAC_nontcga_OTH=0.7246;ExAC_nontcga_SAS=0.6782;AF=0.6687;AF_popmax=0.7396;AF_male=0.6618;AF_female=0.6773;AF_raw=0.6683;AF_afr=0.5365;AF_sas=.;AF_amr=0.5130;AF_eas=0.5374;AF_nfe=0.7396;AF_fin=0.7621;AF_asj=0.7552;AF_oth=0.7068;non_topmed_AF_popmax=0.7408;non_neuro_AF_popmax=0.7398;non_cancer_AF_popmax=.;controls_AF_popmax=0.7476;Kaviar_AF=0.664513;Kaviar_AC=102735;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.713393;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079544 rs3816256 C G 100 PASS AC=165;AF=0.602835;AN=214;NS=2504;DP=17006;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6626;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816256;CLNALLELEID=98394;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7384;ExAC_nontcga_ALL=0.6714;ExAC_nontcga_AFR=0.5403;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5271;ExAC_nontcga_FIN=0.7639;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6702;AF=0.6687;AF_popmax=0.7403;AF_male=0.6617;AF_female=0.6776;AF_raw=0.6681;AF_afr=0.5352;AF_sas=.;AF_amr=0.5130;AF_eas=0.5402;AF_nfe=0.7403;AF_fin=0.7620;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7418;non_neuro_AF_popmax=0.7407;non_cancer_AF_popmax=.;controls_AF_popmax=0.7486;Kaviar_AF=0.664603;Kaviar_AC=102749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.486055;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079597 rs1042393 A G 100 PASS AC=165;AF=0.600839;AN=214;NS=2504;DP=17700;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6524;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;1000g2015aug_all=0.600839;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042393;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_converted_rankscore=0.153;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-3.41;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=-1.81;FATHMM_converted_rankscore=0.840;FATHMM_pred=D;PROVEAN_score=1.71;PROVEAN_converted_rankscore=0.006;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.211;MetaSVM_score=-0.892;MetaSVM_rankscore=0.487;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.974;CADD_raw_rankscore=0.008;CADD_phred=0.001;DANN_score=0.420;DANN_rankscore=0.030;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.901;Eigen-PC-raw=-1.780;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-2.36;GERP++_RS_rankscore=0.062;phyloP100way_vertebrate=-0.030;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.388;phyloP20way_mammalian_rankscore=0.064;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=12.466;SiPhy_29way_logOdds_rankscore=0.549;Interpro_domain=Galactose_mutarotase,_N-terminal_barrel|Galactose_mutarotase-like_domain;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7383;ExAC_nontcga_ALL=0.6701;ExAC_nontcga_AFR=0.5399;ExAC_nontcga_AMR=0.4559;ExAC_nontcga_EAS=0.5272;ExAC_nontcga_FIN=0.7637;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6620;AF=0.6686;AF_popmax=0.7401;AF_male=0.6617;AF_female=0.6773;AF_raw=0.6679;AF_afr=0.5349;AF_sas=.;AF_amr=0.5130;AF_eas=0.5394;AF_nfe=0.7401;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7089;non_topmed_AF_popmax=0.7416;non_neuro_AF_popmax=0.7404;non_cancer_AF_popmax=.;controls_AF_popmax=0.7483;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.528089;ALLELE_END;VINYL_score=1.5 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78079643 rs1800301 C T 100 PASS AC=52;AF=0.10603;AN=214;NS=2504;DP=17549;EAS_AF=0.002;AMR_AF=0.1138;AFR_AF=0.0582;EUR_AF=0.2276;SAS_AF=0.1472;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;1000g2015aug_all=0.10603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800301;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.22;ExAC_nontcga_ALL=0.1775;ExAC_nontcga_AFR=0.0768;ExAC_nontcga_AMR=0.0952;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.2508;ExAC_nontcga_NFE=0.2309;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.1671;AF=0.1661;AF_popmax=0.2145;AF_male=0.1645;AF_female=0.1682;AF_raw=0.1663;AF_afr=0.0736;AF_sas=.;AF_amr=0.1123;AF_eas=0;AF_nfe=0.2145;AF_fin=0.2545;AF_asj=0.2917;AF_oth=0.1851;non_topmed_AF_popmax=0.2121;non_neuro_AF_popmax=0.2168;non_cancer_AF_popmax=.;controls_AF_popmax=0.2080;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.623896;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 +17 78079669 rs1042395 G A 100 PASS AC=165;AF=0.602436;AN=214;NS=2504;DP=16963;EAS_AF=0.5437;AMR_AF=0.5418;AFR_AF=0.5212;EUR_AF=0.7535;SAS_AF=0.6605;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042395;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_rankscore=0.282;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_rankscore=0.184;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=3.27;MutationAssessor_score_rankscore=0.903;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_converted_rankscore=0.854;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.387;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.431;MetaSVM_score=-0.910;MetaSVM_rankscore=0.468;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.389;REVEL_rankscore=0.709;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.133;CADD_raw_rankscore=0.203;CADD_phred=11.39;DANN_score=0.799;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.567;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=1.76;GERP++_RS_rankscore=0.237;phyloP100way_vertebrate=-0.036;phyloP100way_vertebrate_rankscore=0.120;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.204;phastCons20way_mammalian_rankscore=0.218;SiPhy_29way_logOdds=10.855;SiPhy_29way_logOdds_rankscore=0.458;Interpro_domain=Galactose_mutarotase,_N-terminal_barrel|Galactose_mutarotase-like_domain;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7381;ExAC_nontcga_ALL=0.6717;ExAC_nontcga_AFR=0.5410;ExAC_nontcga_AMR=0.4559;ExAC_nontcga_EAS=0.5269;ExAC_nontcga_FIN=0.7654;ExAC_nontcga_NFE=0.7474;ExAC_nontcga_OTH=0.7203;ExAC_nontcga_SAS=0.6702;AF=0.6684;AF_popmax=0.7399;AF_male=0.6614;AF_female=0.6772;AF_raw=0.6680;AF_afr=0.5353;AF_sas=.;AF_amr=0.5118;AF_eas=0.5361;AF_nfe=0.7399;AF_fin=0.7617;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7414;non_neuro_AF_popmax=0.7405;non_cancer_AF_popmax=.;controls_AF_popmax=0.7485;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.557421;ALLELE_END;VINYL_score=1.5 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081307 rs78855075 C T 100 PASS AC=20;AF=0.0870607;AN=214;NS=2504;DP=13518;EAS_AF=0;AMR_AF=0.049;AFR_AF=0.1884;EUR_AF=0.0736;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0870607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78855075;CLNALLELEID=256518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0719;ExAC_nontcga_ALL=0.0694;ExAC_nontcga_AFR=0.1603;ExAC_nontcga_AMR=0.0416;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0582;ExAC_nontcga_NFE=0.0651;ExAC_nontcga_OTH=0.0994;ExAC_nontcga_SAS=0.0894;AF=0.0888;AF_popmax=0.1582;AF_male=0.0893;AF_female=0.0882;AF_raw=0.0891;AF_afr=0.1582;AF_sas=.;AF_amr=0.0436;AF_eas=0.0013;AF_nfe=0.0702;AF_fin=0.0588;AF_asj=0.0483;AF_oth=0.0671;non_topmed_AF_popmax=0.1581;non_neuro_AF_popmax=0.1600;non_cancer_AF_popmax=.;controls_AF_popmax=0.1580;Kaviar_AF=0.0680328;Kaviar_AC=10518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081515 rs142626724 G A 100 PASS AC=4;AF=0.00239617;AN=214;NS=2504;DP=13567;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142626724;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0027;AF=0.0060;AF_popmax=0.0093;AF_male=0.0071;AF_female=0.0046;AF_raw=0.0056;AF_afr=0.0017;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0030;AF_asj=0.0181;AF_oth=0.0091;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0094;non_cancer_AF_popmax=.;controls_AF_popmax=0.0066;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.375628;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142626724;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0027;AF=0.0060;AF_popmax=0.0093;AF_male=0.0071;AF_female=0.0046;AF_raw=0.0056;AF_afr=0.0017;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0030;AF_asj=0.0181;AF_oth=0.0091;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0094;non_cancer_AF_popmax=.;controls_AF_popmax=0.0066;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.375628;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081526 rs372331052;rs570717926 AGCGGCGG AGCAGCGGGCGGCGG 100 PASS AC=164;AF=0.592851;AN=214;NS=2504;DP=17040;EAS_AF=0.5337;AMR_AF=0.5288;AFR_AF=0.5083;EUR_AF=0.7495;SAS_AF=0.6524;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.592851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3071247;CLNALLELEID=98398;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6684;ExAC_nontcga_AFR=0.5336;ExAC_nontcga_AMR=0.4497;ExAC_nontcga_EAS=0.5240;ExAC_nontcga_FIN=0.7604;ExAC_nontcga_NFE=0.7455;ExAC_nontcga_OTH=0.7119;ExAC_nontcga_SAS=0.6659;AF=0.6590;AF_popmax=0.7305;AF_male=0.6520;AF_female=0.6679;AF_raw=0.6575;AF_afr=0.5212;AF_sas=.;AF_amr=0.5106;AF_eas=0.5281;AF_nfe=0.7305;AF_fin=0.7596;AF_asj=0.7535;AF_oth=0.7028;non_topmed_AF_popmax=0.7320;non_neuro_AF_popmax=0.7307;non_cancer_AF_popmax=.;controls_AF_popmax=0.7421;Kaviar_AF=0.0061254;Kaviar_AC=947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.919469;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.592851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3071247;CLNALLELEID=98398;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.6684;ExAC_nontcga_AFR=0.5336;ExAC_nontcga_AMR=0.4497;ExAC_nontcga_EAS=0.5240;ExAC_nontcga_FIN=0.7604;ExAC_nontcga_NFE=0.7455;ExAC_nontcga_OTH=0.7119;ExAC_nontcga_SAS=0.6659;AF=0.6590;AF_popmax=0.7305;AF_male=0.6520;AF_female=0.6679;AF_raw=0.6575;AF_afr=0.5212;AF_sas=.;AF_amr=0.5106;AF_eas=0.5281;AF_nfe=0.7305;AF_fin=0.7596;AF_asj=0.7535;AF_oth=0.7028;non_topmed_AF_popmax=0.7320;non_neuro_AF_popmax=0.7307;non_cancer_AF_popmax=.;controls_AF_popmax=0.7421;Kaviar_AF=0.0061254;Kaviar_AC=947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.919469;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081551 rs2304845 T C 100 PASS AC=164;AF=0.601038;AN=214;NS=2504;DP=10715;EAS_AF=0.5437;AMR_AF=0.5403;AFR_AF=0.5174;EUR_AF=0.7515;SAS_AF=0.6616;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.601038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304845;CLNALLELEID=177734;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7315;ExAC_nontcga_ALL=0.6708;ExAC_nontcga_AFR=0.5313;ExAC_nontcga_AMR=0.4586;ExAC_nontcga_EAS=0.5309;ExAC_nontcga_FIN=0.7624;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7114;ExAC_nontcga_SAS=0.6697;AF=0.6589;AF_popmax=0.7302;AF_male=0.6518;AF_female=0.6678;AF_raw=0.6579;AF_afr=0.5220;AF_sas=.;AF_amr=0.5106;AF_eas=0.5253;AF_nfe=0.7302;AF_fin=0.7598;AF_asj=0.7535;AF_oth=0.7019;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7305;non_cancer_AF_popmax=.;controls_AF_popmax=0.7429;Kaviar_AF=0.586629;Kaviar_AC=90694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.040998;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.601038;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304845;CLNALLELEID=177734;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7315;ExAC_nontcga_ALL=0.6708;ExAC_nontcga_AFR=0.5313;ExAC_nontcga_AMR=0.4586;ExAC_nontcga_EAS=0.5309;ExAC_nontcga_FIN=0.7624;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7114;ExAC_nontcga_SAS=0.6697;AF=0.6589;AF_popmax=0.7302;AF_male=0.6518;AF_female=0.6678;AF_raw=0.6579;AF_afr=0.5220;AF_sas=.;AF_amr=0.5106;AF_eas=0.5253;AF_nfe=0.7302;AF_fin=0.7598;AF_asj=0.7535;AF_oth=0.7019;non_topmed_AF_popmax=0.7315;non_neuro_AF_popmax=0.7305;non_cancer_AF_popmax=.;controls_AF_popmax=0.7429;Kaviar_AF=0.586629;Kaviar_AC=90694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.040998;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081655 rs150343359 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13298;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.G915A:p.G305G,GAA:NM_001079804:exon5:c.G915A:p.G305G,GAA:NM_001079803:exon6:c.G915A:p.G305G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150343359;CLNALLELEID=186555;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0004;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.505217;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081661 rs1800303 A T 100 PASS AC=20;AF=0.110224;AN=214;NS=2504;DP=12980;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.2716;EUR_AF=0.0736;SAS_AF=0.0808;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.A921T:p.A307A,GAA:NM_001079804:exon5:c.A921T:p.A307A,GAA:NM_001079803:exon6:c.A921T:p.A307A;1000g2015aug_all=0.110224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800303;CLNALLELEID=98399;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0719;ExAC_nontcga_ALL=0.0800;ExAC_nontcga_AFR=0.2456;ExAC_nontcga_AMR=0.0505;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0664;ExAC_nontcga_NFE=0.0680;ExAC_nontcga_OTH=0.1166;ExAC_nontcga_SAS=0.0926;AF=0.1110;AF_popmax=0.2374;AF_male=0.1126;AF_female=0.1090;AF_raw=0.1110;AF_afr=0.2374;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0702;AF_fin=0.0588;AF_asj=0.0483;AF_oth=0.0717;non_topmed_AF_popmax=0.2376;non_neuro_AF_popmax=0.2433;non_cancer_AF_popmax=.;controls_AF_popmax=0.2390;Kaviar_AF=0.0723212;Kaviar_AC=11181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.695166;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78081707 rs2252455 G A 100 PASS AC=165;AF=0.604433;AN=214;NS=2504;DP=13236;EAS_AF=0.5446;AMR_AF=0.5418;AFR_AF=0.5189;EUR_AF=0.7545;SAS_AF=0.6718;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.604433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252455;CLNALLELEID=98400;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7545;ExAC_nontcga_ALL=0.7479;ExAC_nontcga_AFR=0.6388;ExAC_nontcga_AMR=0.6274;ExAC_nontcga_EAS=0.6329;ExAC_nontcga_FIN=0.8270;ExAC_nontcga_NFE=0.7979;ExAC_nontcga_OTH=0.7768;ExAC_nontcga_SAS=0.7114;AF=0.6673;AF_popmax=0.7398;AF_male=0.6604;AF_female=0.6760;AF_raw=0.6665;AF_afr=0.5305;AF_sas=.;AF_amr=0.5142;AF_eas=0.5381;AF_nfe=0.7398;AF_fin=0.7623;AF_asj=0.7552;AF_oth=0.7072;non_topmed_AF_popmax=0.7411;non_neuro_AF_popmax=0.7401;non_cancer_AF_popmax=.;controls_AF_popmax=0.7479;Kaviar_AF=0.6232;Kaviar_AC=96348;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.689936;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78081786 rs533029286 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15292;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533029286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.352252;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78082221 rs41292402 C T 100 PASS AC=2;AF=0.00519169;AN=214;NS=2504;DP=15135;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292402;CLNALLELEID=98369;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0044;AF=0.0096;AF_popmax=0.0142;AF_male=0.0103;AF_female=0.0088;AF_raw=0.0096;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0107;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0107631;Kaviar_AC=1664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.017227;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292402;CLNALLELEID=98369;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0147;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0044;AF=0.0096;AF_popmax=0.0142;AF_male=0.0103;AF_female=0.0088;AF_raw=0.0096;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0107;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0107631;Kaviar_AC=1664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492584|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.017227;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78082504 rs1800304 G A 100 PASS AC=164;AF=0.602835;AN=214;NS=2504;DP=14982;EAS_AF=0.5427;AMR_AF=0.5418;AFR_AF=0.5166;EUR_AF=0.7515;SAS_AF=0.6718;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;1000g2015aug_all=0.602835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800304;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6747;ExAC_nontcga_AFR=0.5430;ExAC_nontcga_AMR=0.4590;ExAC_nontcga_EAS=0.5299;ExAC_nontcga_FIN=0.7669;ExAC_nontcga_NFE=0.7487;ExAC_nontcga_OTH=0.7294;ExAC_nontcga_SAS=0.6769;AF=0.6664;AF_popmax=0.7394;AF_male=0.6593;AF_female=0.6753;AF_raw=0.6662;AF_afr=0.5291;AF_sas=.;AF_amr=0.5142;AF_eas=0.5369;AF_nfe=0.7394;AF_fin=0.7627;AF_asj=0.7552;AF_oth=0.7057;non_topmed_AF_popmax=0.7405;non_neuro_AF_popmax=0.7397;non_cancer_AF_popmax=.;controls_AF_popmax=0.7477;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.416633;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78083726 rs2278619 A G 100 PASS AC=165;AF=0.711661;AN=214;NS=2504;DP=14987;EAS_AF=0.6488;AMR_AF=0.5634;AFR_AF=0.7118;EUR_AF=0.7604;SAS_AF=0.8313;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.711661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278619;CLNALLELEID=98371;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7486;ExAC_nontcga_ALL=0.7299;ExAC_nontcga_AFR=0.7010;ExAC_nontcga_AMR=0.4956;ExAC_nontcga_EAS=0.6234;ExAC_nontcga_FIN=0.7962;ExAC_nontcga_NFE=0.7638;ExAC_nontcga_OTH=0.7631;ExAC_nontcga_SAS=0.8173;AF=0.7262;AF_popmax=0.7527;AF_male=0.7207;AF_female=0.7331;AF_raw=0.7262;AF_afr=0.6873;AF_sas=.;AF_amr=0.5437;AF_eas=0.6147;AF_nfe=0.7527;AF_fin=0.7928;AF_asj=0.7759;AF_oth=0.7389;non_topmed_AF_popmax=0.7539;non_neuro_AF_popmax=0.7531;non_cancer_AF_popmax=.;controls_AF_popmax=0.7623;Kaviar_AF=0.720638;Kaviar_AC=111412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.262501;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1940686|N/A|TP53|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.719453;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78083791 rs1800305 C T 100 PASS AC=20;AF=0.0982428;AN=214;NS=2504;DP=15097;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.2284;EUR_AF=0.0736;SAS_AF=0.0808;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon9:c.C1374T:p.Y458Y,GAA:NM_001079804:exon9:c.C1374T:p.Y458Y,GAA:NM_001079803:exon10:c.C1374T:p.Y458Y;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800305;CLNALLELEID=98372;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0715;ExAC_nontcga_ALL=0.0729;ExAC_nontcga_AFR=0.1977;ExAC_nontcga_AMR=0.0440;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0583;ExAC_nontcga_NFE=0.0654;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.0897;AF=0.0987;AF_popmax=0.1930;AF_male=0.0997;AF_female=0.0974;AF_raw=0.0990;AF_afr=0.1930;AF_sas=.;AF_amr=0.0460;AF_eas=0.0026;AF_nfe=0.0701;AF_fin=0.0587;AF_asj=0.0483;AF_oth=0.0700;non_topmed_AF_popmax=0.1928;non_neuro_AF_popmax=0.1929;non_cancer_AF_popmax=.;controls_AF_popmax=0.1912;Kaviar_AF=0.0713251;Kaviar_AC=11027;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.727705;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78084459 rs572227225 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17463;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572227225;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.923924;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78084507 rs2304844 G C 100 PASS AC=164;AF=0.603035;AN=214;NS=2504;DP=15752;EAS_AF=0.5417;AMR_AF=0.5432;AFR_AF=0.5182;EUR_AF=0.7515;SAS_AF=0.6708;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.603035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304844;CLNALLELEID=98373;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7379;ExAC_nontcga_ALL=0.6719;ExAC_nontcga_AFR=0.5361;ExAC_nontcga_AMR=0.4567;ExAC_nontcga_EAS=0.5259;ExAC_nontcga_FIN=0.7638;ExAC_nontcga_NFE=0.7469;ExAC_nontcga_OTH=0.7289;ExAC_nontcga_SAS=0.6755;AF=0.6666;AF_popmax=0.7392;AF_male=0.6593;AF_female=0.6757;AF_raw=0.6663;AF_afr=0.5297;AF_sas=.;AF_amr=0.5154;AF_eas=0.5388;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7059;non_topmed_AF_popmax=0.7404;non_neuro_AF_popmax=0.7395;non_cancer_AF_popmax=.;controls_AF_popmax=0.7480;Kaviar_AF=0.661958;Kaviar_AC=102340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.704587;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78084688 rs2304843 C A 100 PASS AC=164;AF=0.599241;AN=214;NS=2504;DP=17049;EAS_AF=0.5427;AMR_AF=0.5432;AFR_AF=0.5113;EUR_AF=0.7515;SAS_AF=0.6595;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304843;CLNALLELEID=256521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6704;ExAC_nontcga_AFR=0.5325;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5284;ExAC_nontcga_FIN=0.7643;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6670;AF=0.6658;AF_popmax=0.7392;AF_male=0.6585;AF_female=0.6751;AF_raw=0.6656;AF_afr=0.5278;AF_sas=.;AF_amr=0.5142;AF_eas=0.5362;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7048;non_topmed_AF_popmax=0.7406;non_neuro_AF_popmax=0.7396;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.661828;Kaviar_AC=102320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.264075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.468177;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304843;CLNALLELEID=256521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7380;ExAC_nontcga_ALL=0.6704;ExAC_nontcga_AFR=0.5325;ExAC_nontcga_AMR=0.4561;ExAC_nontcga_EAS=0.5284;ExAC_nontcga_FIN=0.7643;ExAC_nontcga_NFE=0.7468;ExAC_nontcga_OTH=0.7240;ExAC_nontcga_SAS=0.6670;AF=0.6658;AF_popmax=0.7392;AF_male=0.6585;AF_female=0.6751;AF_raw=0.6656;AF_afr=0.5278;AF_sas=.;AF_amr=0.5142;AF_eas=0.5362;AF_nfe=0.7392;AF_fin=0.7618;AF_asj=0.7552;AF_oth=0.7048;non_topmed_AF_popmax=0.7406;non_neuro_AF_popmax=0.7396;non_cancer_AF_popmax=.;controls_AF_popmax=0.7471;Kaviar_AF=0.661828;Kaviar_AC=102320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.264075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.468177;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78084727 rs111261964 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17044;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111261964;CLNALLELEID=256522;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0035;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0037;AF_raw=0.0035;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0017;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0052;non_neuro_AF_popmax=0.0062;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0028913;Kaviar_AC=447;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1492585|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.076528;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78084769 rs1042396 G A 100 PASS AC=59;AF=0.159545;AN=214;NS=2504;DP=17055;EAS_AF=0.1091;AMR_AF=0.2579;AFR_AF=0.034;EUR_AF=0.2724;SAS_AF=0.1953;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R;1000g2015aug_all=0.159545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042396;CLNALLELEID=98375;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2816;ExAC_nontcga_ALL=0.2284;ExAC_nontcga_AFR=0.0627;ExAC_nontcga_AMR=0.2268;ExAC_nontcga_EAS=0.1220;ExAC_nontcga_FIN=0.2367;ExAC_nontcga_NFE=0.2746;ExAC_nontcga_OTH=0.2312;ExAC_nontcga_SAS=0.2156;AF=0.1982;AF_popmax=0.2710;AF_male=0.1942;AF_female=0.2031;AF_raw=0.1983;AF_afr=0.0620;AF_sas=.;AF_amr=0.2494;AF_eas=0.1175;AF_nfe=0.2710;AF_fin=0.2239;AF_asj=0.2292;AF_oth=0.2440;non_topmed_AF_popmax=0.2655;non_neuro_AF_popmax=0.2706;non_cancer_AF_popmax=.;controls_AF_popmax=0.2578;Kaviar_AF=0.232131;Kaviar_AC=35888;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.231061::-0.523644;Heart_Left_Ventricle=Heart_Left_Ventricle::0.239852::-0.469868;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.582472;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|1 +17 78084887 rs543529463 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15395;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543529463;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.953601;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78085710 rs2304841 T G 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=10923;EAS_AF=0.0099;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0039;AF_male=0.0003;AF_female=7.217e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0006531;Kaviar_AC=17;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.193653;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78085911 rs2304840 G A 100 PASS AC=5;AF=0.063099;AN=214;NS=2504;DP=14692;EAS_AF=0.0456;AMR_AF=0.0375;AFR_AF=0.0726;EUR_AF=0.0567;SAS_AF=0.093;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.063099;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304840;CLNALLELEID=98377;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0628;ExAC_nontcga_ALL=0.0571;ExAC_nontcga_AFR=0.0786;ExAC_nontcga_AMR=0.0234;ExAC_nontcga_EAS=0.0315;ExAC_nontcga_FIN=0.0504;ExAC_nontcga_NFE=0.0621;ExAC_nontcga_OTH=0.0564;ExAC_nontcga_SAS=0.0671;AF=0.0648;AF_popmax=0.0755;AF_male=0.0645;AF_female=0.0652;AF_raw=0.0649;AF_afr=0.0755;AF_sas=.;AF_amr=0.0236;AF_eas=0.0386;AF_nfe=0.0660;AF_fin=0.0571;AF_asj=0.0451;AF_oth=0.0627;non_topmed_AF_popmax=0.0746;non_neuro_AF_popmax=0.0670;non_cancer_AF_popmax=.;controls_AF_popmax=0.0728;Kaviar_AF=0.0576707;Kaviar_AC=8916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.074921;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086531 rs2304837 G A 100 PASS AC=9;AF=0.0778754;AN=214;NS=2504;DP=13847;EAS_AF=0.2391;AMR_AF=0.0331;AFR_AF=0.0098;EUR_AF=0.0378;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304837;CLNALLELEID=256526;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0313;ExAC_nontcga_ALL=0.0748;ExAC_nontcga_AFR=0.0264;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0.2832;ExAC_nontcga_FIN=0.0914;ExAC_nontcga_NFE=0.0557;ExAC_nontcga_OTH=0.0635;ExAC_nontcga_SAS=0.0727;AF=0.0528;AF_popmax=0.2458;AF_male=0.0519;AF_female=0.0538;AF_raw=0.0530;AF_afr=0.0203;AF_sas=.;AF_amr=0.0212;AF_eas=0.2458;AF_nfe=0.0471;AF_fin=0.0783;AF_asj=0.0517;AF_oth=0.0599;non_topmed_AF_popmax=0.2447;non_neuro_AF_popmax=0.2458;non_cancer_AF_popmax=.;controls_AF_popmax=0.2319;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.553209;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 78086846 rs2304836 A G 100 PASS AC=166;AF=0.715056;AN=214;NS=2504;DP=13277;EAS_AF=0.6508;AMR_AF=0.5677;AFR_AF=0.7179;EUR_AF=0.7634;SAS_AF=0.8323;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.715056;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304836;CLNALLELEID=98379;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7513;ExAC_nontcga_ALL=0.7437;ExAC_nontcga_AFR=0.7100;ExAC_nontcga_AMR=0.5354;ExAC_nontcga_EAS=0.6373;ExAC_nontcga_FIN=0.7884;ExAC_nontcga_NFE=0.7731;ExAC_nontcga_OTH=0.7702;ExAC_nontcga_SAS=0.8230;AF=0.7274;AF_popmax=0.7527;AF_male=0.7217;AF_female=0.7346;AF_raw=0.7273;AF_afr=0.6920;AF_sas=.;AF_amr=0.5448;AF_eas=0.6138;AF_nfe=0.7527;AF_fin=0.7923;AF_asj=0.7690;AF_oth=0.7389;non_topmed_AF_popmax=0.7540;non_neuro_AF_popmax=0.7533;non_cancer_AF_popmax=.;controls_AF_popmax=0.7611;Kaviar_AF=0.67818;Kaviar_AC=104848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.071406;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78086869 rs562914824 A C 100 PASS AC=4;AF=0.0463259;AN=214;NS=2504;DP=13149;EAS_AF=0.0813;AMR_AF=0.0591;AFR_AF=0.0295;EUR_AF=0.0437;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562914824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.199e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.308e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662183;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78086892 rs2304835 C T 100 PASS AC=6;AF=0.0638978;AN=214;NS=2504;DP=13599;EAS_AF=0.0536;AMR_AF=0.0389;AFR_AF=0.0681;EUR_AF=0.0586;SAS_AF=0.092;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0658;AF_popmax=0.0703;AF_male=0.0653;AF_female=0.0665;AF_raw=0.0660;AF_afr=0.0703;AF_sas=.;AF_amr=0.0236;AF_eas=0.0442;AF_nfe=0.0701;AF_fin=0.0582;AF_asj=0.0448;AF_oth=0.0638;non_topmed_AF_popmax=0.0730;non_neuro_AF_popmax=0.0692;non_cancer_AF_popmax=.;controls_AF_popmax=0.0760;Kaviar_AF=0.058975;Kaviar_AC=1535;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.195822;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086895 rs2304834 A G 100 PASS AC=6;AF=0.0621006;AN=214;NS=2504;DP=13747;EAS_AF=0.0536;AMR_AF=0.0389;AFR_AF=0.0613;EUR_AF=0.0586;SAS_AF=0.092;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304834;CLNALLELEID=549181;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0629;AF_popmax=0.0704;AF_male=0.0621;AF_female=0.0639;AF_raw=0.0630;AF_afr=0.0595;AF_sas=.;AF_amr=0.0224;AF_eas=0.0442;AF_nfe=0.0704;AF_fin=0.0584;AF_asj=0.0448;AF_oth=0.0612;non_topmed_AF_popmax=0.0734;non_neuro_AF_popmax=0.0695;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.0567466;Kaviar_AC=1477;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.195822;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +17 78086953 rs2304833 G A 100 PASS AC=67;AF=0.228035;AN=214;NS=2504;DP=13998;EAS_AF=0.1964;AMR_AF=0.1671;AFR_AF=0.1566;EUR_AF=0.3181;SAS_AF=0.3078;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2655;AF_popmax=0.3130;AF_male=0.2639;AF_female=0.2675;AF_raw=0.2655;AF_afr=0.1703;AF_sas=.;AF_amr=0.1592;AF_eas=0.1673;AF_nfe=0.3130;AF_fin=0.3504;AF_asj=0.3414;AF_oth=0.2874;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3141;non_cancer_AF_popmax=.;controls_AF_popmax=0.3207;Kaviar_AF=0.265868;Kaviar_AC=6920;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.287196;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 1|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 +17 78087041 rs1800309 G A 100 PASS AC=9;AF=0.0780751;AN=214;NS=2504;DP=15765;EAS_AF=0.2401;AMR_AF=0.0346;AFR_AF=0.0091;EUR_AF=0.0378;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.G2065A:p.E689K,GAA:NM_001079804:exon15:c.G2065A:p.E689K,GAA:NM_001079803:exon16:c.G2065A:p.E689K;1000g2015aug_all=0.0780751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800309;CLNALLELEID=19069;CLNDN=Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=.|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other;SIFT_score=0.35;SIFT_converted_rankscore=0.123;SIFT_pred=T;Polyphen2_HDIV_score=0.092;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_rankscore=0.266;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_converted_rankscore=0.284;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.208;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_score_rankscore=0.271;MutationAssessor_pred=L;FATHMM_score=-3.23;FATHMM_converted_rankscore=0.934;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_converted_rankscore=0.297;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.094;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.160;REVEL_rankscore=0.420;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.321;CADD_raw_rankscore=0.340;CADD_phred=18.31;DANN_score=0.933;DANN_rankscore=0.224;fathmm-MKL_coding_score=0.520;fathmm-MKL_coding_rankscore=0.288;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.513;Eigen-PC-raw=-0.455;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.731;integrated_fitCons_score_rankscore=0.878;integrated_confidence_value=0;GERP++_RS=1.49;GERP++_RS_rankscore=0.219;phyloP100way_vertebrate=2.049;phyloP100way_vertebrate_rankscore=0.407;phyloP20way_mammalian=0.072;phyloP20way_mammalian_rankscore=0.180;phastCons100way_vertebrate=0.669;phastCons100way_vertebrate_rankscore=0.281;phastCons20way_mammalian=0.911;phastCons20way_mammalian_rankscore=0.388;SiPhy_29way_logOdds=6.571;SiPhy_29way_logOdds_rankscore=0.216;Interpro_domain=Glycoside_hydrolase_superfamily;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0922;ExAC_nontcga_AFR=0.0296;ExAC_nontcga_AMR=0.0471;ExAC_nontcga_EAS=0.3176;ExAC_nontcga_FIN=0.1277;ExAC_nontcga_NFE=0.0714;ExAC_nontcga_OTH=0.0734;ExAC_nontcga_SAS=0.0810;AF=0.0530;AF_popmax=0.2462;AF_male=0.0521;AF_female=0.0541;AF_raw=0.0531;AF_afr=0.0206;AF_sas=.;AF_amr=0.0212;AF_eas=0.2462;AF_nfe=0.0473;AF_fin=0.0783;AF_asj=0.0517;AF_oth=0.0600;non_topmed_AF_popmax=0.2451;non_neuro_AF_popmax=0.2462;non_cancer_AF_popmax=.;controls_AF_popmax=0.2325;Kaviar_AF=0.0494172;Kaviar_AC=7640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.667593;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +17 78087109 rs1800310 A G 100 PASS AC=71;AF=0.241613;AN=214;NS=2504;DP=16100;EAS_AF=0.3819;AMR_AF=0.1643;AFR_AF=0.0877;EUR_AF=0.3052;SAS_AF=0.2945;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;1000g2015aug_all=0.241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800310;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2793;ExAC_nontcga_ALL=0.3459;ExAC_nontcga_AFR=0.1546;ExAC_nontcga_AMR=0.2339;ExAC_nontcga_EAS=0.4245;ExAC_nontcga_FIN=0.4765;ExAC_nontcga_NFE=0.3797;ExAC_nontcga_OTH=0.3466;ExAC_nontcga_SAS=0.3215;AF=0.2541;AF_popmax=0.3692;AF_male=0.2523;AF_female=0.2563;AF_raw=0.2539;AF_afr=0.1135;AF_sas=.;AF_amr=0.1616;AF_eas=0.3692;AF_nfe=0.2965;AF_fin=0.3718;AF_asj=0.3483;AF_oth=0.2870;non_topmed_AF_popmax=0.3699;non_neuro_AF_popmax=0.3692;non_cancer_AF_popmax=.;controls_AF_popmax=0.3435;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.724578;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 1|0 1|1 0|1 1|0 0|0 1|1 0|0 1|1 1|0 0|1 1|0 0|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 +17 78090928 rs2304832 G A 100 PASS AC=166;AF=0.789337;AN=214;NS=2504;DP=17134;EAS_AF=0.6498;AMR_AF=0.5965;AFR_AF=0.9834;EUR_AF=0.7654;SAS_AF=0.8323;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.789337;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304832;CLNALLELEID=98383;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7530;ExAC_nontcga_ALL=0.7551;ExAC_nontcga_AFR=0.9557;ExAC_nontcga_AMR=0.5116;ExAC_nontcga_EAS=0.6164;ExAC_nontcga_FIN=0.7973;ExAC_nontcga_NFE=0.7679;ExAC_nontcga_OTH=0.7657;ExAC_nontcga_SAS=0.8170;AF=0.8009;AF_popmax=0.9474;AF_male=0.7971;AF_female=0.8055;AF_raw=0.8003;AF_afr=0.9474;AF_sas=.;AF_amr=0.5615;AF_eas=0.6064;AF_nfe=0.7549;AF_fin=0.7930;AF_asj=0.7966;AF_oth=0.7671;non_topmed_AF_popmax=0.9472;non_neuro_AF_popmax=0.9442;non_cancer_AF_popmax=.;controls_AF_popmax=0.9407;Kaviar_AF=0.73446;Kaviar_AC=113549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.253676::-0.296557;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.377457;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78090932 rs2304831 T C 100 PASS AC=14;AF=0.207069;AN=214;NS=2504;DP=17311;EAS_AF=0.3611;AMR_AF=0.085;AFR_AF=0.1747;EUR_AF=0.0994;SAS_AF=0.2894;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207069;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2304831;CLNALLELEID=256528;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1056;ExAC_nontcga_ALL=0.1576;ExAC_nontcga_AFR=0.1693;ExAC_nontcga_AMR=0.0834;ExAC_nontcga_EAS=0.3393;ExAC_nontcga_FIN=0.1508;ExAC_nontcga_NFE=0.1188;ExAC_nontcga_OTH=0.1329;ExAC_nontcga_SAS=0.2458;AF=0.1499;AF_popmax=0.3329;AF_male=0.1473;AF_female=0.1532;AF_raw=0.1505;AF_afr=0.1653;AF_sas=.;AF_amr=0.0731;AF_eas=0.3329;AF_nfe=0.1240;AF_fin=0.1642;AF_asj=0.1103;AF_oth=0.1571;non_topmed_AF_popmax=0.3327;non_neuro_AF_popmax=0.3329;non_cancer_AF_popmax=.;controls_AF_popmax=0.3194;Kaviar_AF=0.146719;Kaviar_AC=22683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +17 78091359 rs201904830 C G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17257;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201904830;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0077;AF=0.0042;AF_popmax=0.0068;AF_male=0.0042;AF_female=0.0042;AF_raw=0.0042;AF_afr=0.0014;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0009;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0055433;Kaviar_AC=857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.061299;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78091405 rs1126690 G A 100 PASS AC=165;AF=0.711861;AN=214;NS=2504;DP=16814;EAS_AF=0.6498;AMR_AF=0.5519;AFR_AF=0.7156;EUR_AF=0.7624;SAS_AF=0.8323;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;1000g2015aug_all=0.711861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126690;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_converted_rankscore=0.051;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=-2.58;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.041;MetaSVM_score=-0.975;MetaSVM_rankscore=0.361;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.161;REVEL_rankscore=0.422;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.394;CADD_raw_rankscore=0.062;CADD_phred=0.400;DANN_score=0.651;DANN_rankscore=0.075;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.072;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.540;Eigen-PC-raw=-1.562;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.085;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-2.09;GERP++_RS_rankscore=0.068;phyloP100way_vertebrate=-1.089;phyloP100way_vertebrate_rankscore=0.035;phyloP20way_mammalian=-0.437;phyloP20way_mammalian_rankscore=0.058;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.213;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=5.965;SiPhy_29way_logOdds_rankscore=0.184;Interpro_domain=.;GTEx_V6p_gene=ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7499;ExAC_nontcga_ALL=0.7273;ExAC_nontcga_AFR=0.7002;ExAC_nontcga_AMR=0.4676;ExAC_nontcga_EAS=0.6170;ExAC_nontcga_FIN=0.7962;ExAC_nontcga_NFE=0.7655;ExAC_nontcga_OTH=0.7608;ExAC_nontcga_SAS=0.8168;AF=0.7268;AF_popmax=0.7531;AF_male=0.7205;AF_female=0.7349;AF_raw=0.7265;AF_afr=0.6929;AF_sas=.;AF_amr=0.5190;AF_eas=0.6060;AF_nfe=0.7531;AF_fin=0.7920;AF_asj=0.7674;AF_oth=0.7421;non_topmed_AF_popmax=0.7547;non_neuro_AF_popmax=0.7537;non_cancer_AF_popmax=.;controls_AF_popmax=0.7621;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.422464;ALLELE_END;VINYL_score=1.5 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 +17 78091929 rs139912452 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16605;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139912452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.384e-05;AF_popmax=.;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.729624;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78092063 rs1042397 G A 100 PASS AC=151;AF=0.509385;AN=214;NS=2504;DP=17182;EAS_AF=0.2887;AMR_AF=0.4942;AFR_AF=0.5439;EUR_AF=0.663;SAS_AF=0.5429;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;1000g2015aug_all=0.509385;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042397;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6427;ExAC_nontcga_ALL=0.5760;ExAC_nontcga_AFR=0.5402;ExAC_nontcga_AMR=0.4158;ExAC_nontcga_EAS=0.2765;ExAC_nontcga_FIN=0.6494;ExAC_nontcga_NFE=0.6470;ExAC_nontcga_OTH=0.6279;ExAC_nontcga_SAS=0.5827;AF=0.5787;AF_popmax=0.6282;AF_male=0.5754;AF_female=0.5829;AF_raw=0.5782;AF_afr=0.5338;AF_sas=.;AF_amr=0.4717;AF_eas=0.2728;AF_nfe=0.6282;AF_fin=0.6269;AF_asj=0.6586;AF_oth=0.5860;non_topmed_AF_popmax=0.6210;non_neuro_AF_popmax=0.6297;non_cancer_AF_popmax=.;controls_AF_popmax=0.6136;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.294693;Heart_Left_Ventricle=Heart_Left_Ventricle::0.395221::-0.26054;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688943;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|1 +17 78092195 rs41292410 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=15181;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292410;CLNALLELEID=487921;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0027;AF=0.0047;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0045;AF_raw=0.0047;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0116;Kaviar_AF=0.0033699;Kaviar_AC=521;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.359759;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78092211 rs141765552 G T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=14632;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141765552;CLNALLELEID=487924;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0052;AF_popmax=0.0077;AF_male=0.0052;AF_female=0.0052;AF_raw=0.0052;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0076;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.412140;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78093011 rs55662462 G A 100 PASS AC=1;AF=0.0145767;AN=214;NS=2504;DP=14362;EAS_AF=0.001;AMR_AF=0.0735;AFR_AF=0.003;EUR_AF=0.008;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55662462;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0075;AF_popmax=0.1179;AF_male=0.0068;AF_female=0.0083;AF_raw=0.0076;AF_afr=0.0027;AF_sas=.;AF_amr=0.1179;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0102;non_topmed_AF_popmax=0.1210;non_neuro_AF_popmax=0.1209;non_cancer_AF_popmax=.;controls_AF_popmax=0.1382;Kaviar_AF=0.0028137;Kaviar_AC=435;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.270375;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +17 78093221 rs2229221 G A 100 PASS AC=22;AF=0.120008;AN=214;NS=2504;DP=14747;EAS_AF=0;AMR_AF=0.0648;AFR_AF=0.292;EUR_AF=0.0875;SAS_AF=0.0838;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GAA;GeneDetail.refGene=NM_001079804:c.*91G>A\x3bNM_001079803:c.*91G>A\x3bNM_000152:c.*91G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229221;CLNALLELEID=347677;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1196;AF_popmax=0.2496;AF_male=0.1202;AF_female=0.1188;AF_raw=0.1197;AF_afr=0.2496;AF_sas=.;AF_amr=0.0542;AF_eas=0.0013;AF_nfe=0.0776;AF_fin=0.0699;AF_asj=0.0483;AF_oth=0.0772;non_topmed_AF_popmax=0.2501;non_neuro_AF_popmax=0.2552;non_cancer_AF_popmax=.;controls_AF_popmax=0.2496;Kaviar_AF=0.0159248;Kaviar_AC=2462;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0776515::-0.498686;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3067195 rs545359936 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18952;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYOM1;GeneDetail.refGene=NM_003803:c.*65G>A\x3bNM_019856:c.*65G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545359936;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3067278 rs2230164 A G 100 PASS AC=97;AF=0.594449;AN=214;NS=2504;DP=16407;EAS_AF=0.5308;AMR_AF=0.4207;AFR_AF=0.8533;EUR_AF=0.4652;SAS_AF=0.5665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G;1000g2015aug_all=0.594449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230164;CLNALLELEID=230806;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4664;ExAC_nontcga_ALL=0.5761;ExAC_nontcga_AFR=0.8047;ExAC_nontcga_AMR=0.4554;ExAC_nontcga_EAS=0.5871;ExAC_nontcga_FIN=0.6215;ExAC_nontcga_NFE=0.5434;ExAC_nontcga_OTH=0.5587;ExAC_nontcga_SAS=0.6016;AF=0.5761;AF_popmax=0.7949;AF_male=0.5771;AF_female=0.5747;AF_raw=0.5754;AF_afr=0.7949;AF_sas=.;AF_amr=0.375;AF_eas=0.5452;AF_nfe=0.4698;AF_fin=0.5803;AF_asj=0.4688;AF_oth=0.5424;non_topmed_AF_popmax=0.7956;non_neuro_AF_popmax=0.7958;non_cancer_AF_popmax=.;controls_AF_popmax=0.7947;Kaviar_AF=0.486417;Kaviar_AC=75201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|1 +18 3067599 rs7227886 A G 100 PASS AC=26;AF=0.0694888;AN=214;NS=2504;DP=19150;EAS_AF=0.001;AMR_AF=0.0548;AFR_AF=0.0961;EUR_AF=0.0875;SAS_AF=0.0961;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0694888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7227886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0816;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0992;ExAC_nontcga_AMR=0.0458;ExAC_nontcga_EAS=0.0012;ExAC_nontcga_FIN=0.0362;ExAC_nontcga_NFE=0.0808;ExAC_nontcga_OTH=0.0922;ExAC_nontcga_SAS=0.0936;AF=0.0722;AF_popmax=0.0970;AF_male=0.0737;AF_female=0.0704;AF_raw=0.0722;AF_afr=0.0970;AF_sas=.;AF_amr=0.0426;AF_eas=0;AF_nfe=0.0750;AF_fin=0.0337;AF_asj=0.1207;AF_oth=0.0726;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.0987;non_cancer_AF_popmax=.;controls_AF_popmax=0.0972;Kaviar_AF=0.0701737;Kaviar_AC=10849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +18 3075503 rs200055184;rs10667835 C CAAA 100 PASS AC=212;AF=0.992612;AN=214;NS=2504;DP=19011;EAS_AF=0.999;AMR_AF=0.9928;AFR_AF=0.9909;EUR_AF=0.9891;SAS_AF=0.9918;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.992612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10667835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9933;ExAC_nontcga_ALL=0.9964;ExAC_nontcga_AFR=0.9993;ExAC_nontcga_AMR=0.9977;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9930;ExAC_nontcga_NFE=0.9945;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=1;AF=0.9948;AF_popmax=1;AF_male=0.9951;AF_female=0.9944;AF_raw=0.9948;AF_afr=0.9989;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9925;AF_fin=0.9925;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 3075504 rs78687353 G A 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=18175;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78687353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075554 rs2298540 T C 100 PASS AC=21;AF=0.193291;AN=214;NS=2504;DP=19262;EAS_AF=0.3264;AMR_AF=0.1095;AFR_AF=0.1831;EUR_AF=0.1054;SAS_AF=0.2198;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.193291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1216;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1424;AF_popmax=0.3483;AF_male=0.1452;AF_female=0.1389;AF_raw=0.1428;AF_afr=0.1620;AF_sas=.;AF_amr=0.1108;AF_eas=0.3483;AF_nfe=0.1270;AF_fin=0.0857;AF_asj=0.0586;AF_oth=0.1381;non_topmed_AF_popmax=0.3478;non_neuro_AF_popmax=0.3483;non_cancer_AF_popmax=.;controls_AF_popmax=0.3403;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 +18 3075712 rs2298539 C A 100 PASS AC=98;AF=0.622804;AN=214;NS=2504;DP=19650;EAS_AF=0.5149;AMR_AF=0.4308;AFR_AF=0.9599;EUR_AF=0.4652;SAS_AF=0.5767;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.622804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298539;CLNALLELEID=230810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4632;ExAC_nontcga_ALL=0.5448;ExAC_nontcga_AFR=0.8834;ExAC_nontcga_AMR=0.3966;ExAC_nontcga_EAS=0.5255;ExAC_nontcga_FIN=0.5543;ExAC_nontcga_NFE=0.5032;ExAC_nontcga_OTH=0.4945;ExAC_nontcga_SAS=0.5858;AF=0.5915;AF_popmax=0.8783;AF_male=0.5924;AF_female=0.5903;AF_raw=0.5915;AF_afr=0.8783;AF_sas=.;AF_amr=0.375;AF_eas=0.5238;AF_nfe=0.4633;AF_fin=0.5484;AF_asj=0.4724;AF_oth=0.5450;non_topmed_AF_popmax=0.8790;non_neuro_AF_popmax=0.8800;non_cancer_AF_popmax=.;controls_AF_popmax=0.8802;Kaviar_AF=0.484994;Kaviar_AC=74981;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|1 0|1 0|0 0|1 0|0 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 0|1 0|0 0|0 0|1 +18 3075746 rs1143657 G A 100 PASS AC=31;AF=0.183506;AN=214;NS=2504;DP=18427;EAS_AF=0.1875;AMR_AF=0.183;AFR_AF=0.1747;EUR_AF=0.2008;SAS_AF=0.1738;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A;1000g2015aug_all=0.183506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1143657;CLNALLELEID=230812;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1697;ExAC_nontcga_ALL=0.2172;ExAC_nontcga_AFR=0.1868;ExAC_nontcga_AMR=0.1926;ExAC_nontcga_EAS=0.2106;ExAC_nontcga_FIN=0.3389;ExAC_nontcga_NFE=0.2221;ExAC_nontcga_OTH=0.2403;ExAC_nontcga_SAS=0.1824;AF=0.1977;AF_popmax=0.1955;AF_male=0.1898;AF_female=0.2077;AF_raw=0.1977;AF_afr=0.1501;AF_sas=.;AF_amr=0.1651;AF_eas=0.1752;AF_nfe=0.1955;AF_fin=0.3333;AF_asj=0.2310;AF_oth=0.2260;non_topmed_AF_popmax=0.2076;non_neuro_AF_popmax=0.1962;non_cancer_AF_popmax=.;controls_AF_popmax=0.2412;Kaviar_AF=0.157812;Kaviar_AC=24398;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.460710;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075778 rs2298537 A C 100 PASS AC=31;AF=0.183506;AN=214;NS=2504;DP=18184;EAS_AF=0.1875;AMR_AF=0.183;AFR_AF=0.1747;EUR_AF=0.2008;SAS_AF=0.1738;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.183506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1614;ExAC_nontcga_ALL=0.2032;ExAC_nontcga_AFR=0.1748;ExAC_nontcga_AMR=0.1621;ExAC_nontcga_EAS=0.2035;ExAC_nontcga_FIN=0.3267;ExAC_nontcga_NFE=0.2104;ExAC_nontcga_OTH=0.2441;ExAC_nontcga_SAS=0.1714;AF=0.1986;AF_popmax=0.1957;AF_male=0.1906;AF_female=0.2086;AF_raw=0.1988;AF_afr=0.1531;AF_sas=.;AF_amr=0.1651;AF_eas=0.175;AF_nfe=0.1957;AF_fin=0.3331;AF_asj=0.2310;AF_oth=0.2252;non_topmed_AF_popmax=0.2077;non_neuro_AF_popmax=0.1964;non_cancer_AF_popmax=.;controls_AF_popmax=0.2409;Kaviar_AF=0.132586;Kaviar_AC=20498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3075872 rs2298536 C G 100 PASS AC=31;AF=0.174121;AN=214;NS=2504;DP=18681;EAS_AF=0.1865;AMR_AF=0.183;AFR_AF=0.1392;EUR_AF=0.2018;SAS_AF=0.1738;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.174121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2298536;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1892;AF_popmax=0.1953;AF_male=0.1810;AF_female=0.1995;AF_raw=0.1896;AF_afr=0.1211;AF_sas=.;AF_amr=0.1616;AF_eas=0.1748;AF_nfe=0.1953;AF_fin=0.3323;AF_asj=0.2257;AF_oth=0.2243;non_topmed_AF_popmax=0.2070;non_neuro_AF_popmax=0.1962;non_cancer_AF_popmax=.;controls_AF_popmax=0.2404;Kaviar_AF=0.168396;Kaviar_AC=4383;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +18 3083922 rs141235627 A C 100 PASS AC=4;AF=0.00279553;AN=214;NS=2504;DP=18130;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141235627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0128;ExAC_nontcga_SAS=0.0033;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0027;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0006;AF_asj=0.0276;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0026649;Kaviar_AC=412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141235627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0128;ExAC_nontcga_SAS=0.0033;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0027;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0006;AF_asj=0.0276;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0026649;Kaviar_AC=412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3084152 rs8096747 C T 100 PASS AC=200;AF=0.863019;AN=214;NS=2504;DP=18917;EAS_AF=0.7411;AMR_AF=0.9712;AFR_AF=0.8464;EUR_AF=0.9254;SAS_AF=0.8701;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.863019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8096747;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9025;AF_popmax=0.9517;AF_male=0.8990;AF_female=0.9069;AF_raw=0.9022;AF_afr=0.8686;AF_sas=.;AF_amr=0.9517;AF_eas=0.7147;AF_nfe=0.9300;AF_fin=0.9318;AF_asj=0.9552;AF_oth=0.9072;non_topmed_AF_popmax=0.9531;non_neuro_AF_popmax=0.9422;non_cancer_AF_popmax=.;controls_AF_popmax=0.9403;Kaviar_AF=0.900607;Kaviar_AC=23441;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 +18 3085165 rs141988481 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17183;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141988481;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0004;AF_male=5.87e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.656e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3086065 rs3765623 C T 100 PASS AC=10;AF=0.0521166;AN=214;NS=2504;DP=19995;EAS_AF=0.0585;AMR_AF=0.0677;AFR_AF=0.0068;EUR_AF=0.0626;SAS_AF=0.0849;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon29:c.G3934A:p.D1312N,MYOM1:NM_003803:exon30:c.G4222A:p.D1408N;1000g2015aug_all=0.0521166;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3765623;CLNALLELEID=230818;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.581;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.809;Polyphen2_HVAR_rankscore=0.568;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_converted_rankscore=0.676;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_converted_rankscore=0.366;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.104;MetaSVM_score=-0.880;MetaSVM_rankscore=0.498;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.201;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.971;CADD_raw_rankscore=0.820;CADD_phred=27.7;DANN_score=0.999;DANN_rankscore=0.949;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.574;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.463;Eigen-PC-raw=0.514;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.877;phyloP100way_vertebrate_rankscore=0.855;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.535;SiPhy_29way_logOdds_rankscore=0.952;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0716;ExAC_nontcga_ALL=0.0737;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.0805;ExAC_nontcga_EAS=0.0463;ExAC_nontcga_FIN=0.0708;ExAC_nontcga_NFE=0.0794;ExAC_nontcga_OTH=0.0526;ExAC_nontcga_SAS=0.0974;AF=0.0582;AF_popmax=0.0806;AF_male=0.0577;AF_female=0.0588;AF_raw=0.0582;AF_afr=0.0140;AF_sas=.;AF_amr=0.0731;AF_eas=0.0558;AF_nfe=0.0806;AF_fin=0.0656;AF_asj=0.0241;AF_oth=0.0717;non_topmed_AF_popmax=0.0796;non_neuro_AF_popmax=0.0804;non_cancer_AF_popmax=.;controls_AF_popmax=0.0797;Kaviar_AF=0.0722306;Kaviar_AC=11167;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.549078;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3089123 rs5822736 CTATTT C 100 PASS AC=10;AF=0.0696885;AN=214;NS=2504;DP=16685;EAS_AF=0.0575;AMR_AF=0.072;AFR_AF=0.0719;EUR_AF=0.0626;SAS_AF=0.0849;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0696885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5822736;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0724;ExAC_nontcga_ALL=0.0838;ExAC_nontcga_AFR=0.0801;ExAC_nontcga_AMR=0.0898;ExAC_nontcga_EAS=0.0494;ExAC_nontcga_FIN=0.0723;ExAC_nontcga_NFE=0.0849;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.1002;AF=0.0754;AF_popmax=0.0804;AF_male=0.0755;AF_female=0.0752;AF_raw=0.0756;AF_afr=0.0749;AF_sas=.;AF_amr=0.0758;AF_eas=0.0559;AF_nfe=0.0804;AF_fin=0.0662;AF_asj=0.0241;AF_oth=0.0781;non_topmed_AF_popmax=0.0795;non_neuro_AF_popmax=0.0803;non_cancer_AF_popmax=.;controls_AF_popmax=0.0854;Kaviar_AF=0.0022574;Kaviar_AC=349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3089522 rs948298 G T 100 PASS AC=173;AF=0.800319;AN=214;NS=2504;DP=15249;EAS_AF=0.7411;AMR_AF=0.9092;AFR_AF=0.8222;EUR_AF=0.8082;SAS_AF=0.7464;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.800319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs948298;CLNALLELEID=230819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7970;ExAC_nontcga_ALL=0.8087;ExAC_nontcga_AFR=0.8332;ExAC_nontcga_AMR=0.9143;ExAC_nontcga_EAS=0.7209;ExAC_nontcga_FIN=0.8406;ExAC_nontcga_NFE=0.8034;ExAC_nontcga_OTH=0.8506;ExAC_nontcga_SAS=0.7685;AF=0.8195;AF_popmax=0.8998;AF_male=0.8159;AF_female=0.8239;AF_raw=0.8190;AF_afr=0.8304;AF_sas=.;AF_amr=0.8998;AF_eas=0.7134;AF_nfe=0.8161;AF_fin=0.8342;AF_asj=0.8517;AF_oth=0.8122;non_topmed_AF_popmax=0.9025;non_neuro_AF_popmax=0.8809;non_cancer_AF_popmax=.;controls_AF_popmax=0.8577;Kaviar_AF=0.0032535;Kaviar_AC=503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 0|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 +18 3089677 rs55715846 A G 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=16692;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55715846;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0058;AF_popmax=0.0068;AF_male=0.0057;AF_female=0.0059;AF_raw=0.0058;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0164;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3090661 rs201965862 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18562;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon26:c.G3716A:p.G1239E,MYOM1:NM_003803:exon27:c.G4004A:p.G1335E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201965862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.087;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.71;MutationAssessor_score_rankscore=0.795;MutationAssessor_pred=M;FATHMM_score=0.88;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-6.0;PROVEAN_converted_rankscore=0.895;PROVEAN_pred=D;VEST3_score=0.949;VEST3_rankscore=0.945;MetaSVM_score=-0.636;MetaSVM_rankscore=0.634;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_rankscore=0.688;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.670;M-CAP_pred=D;REVEL_score=0.519;REVEL_rankscore=0.798;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.060;CADD_raw_rankscore=0.834;CADD_phred=28.1;DANN_score=0.997;DANN_rankscore=0.819;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.783;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.685;Eigen-PC-raw=0.659;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=6.177;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=19.833;SiPhy_29way_logOdds_rankscore=0.966;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.895e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.503262;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3094131 rs116886106 A G 100 PASS AC=13;AF=0.01877;AN=214;NS=2504;DP=17391;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0179;SAS_AF=0.0654;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.01877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116886106;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0236;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0201;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.0744;AF=0.0116;AF_popmax=0.0181;AF_male=0.0116;AF_female=0.0116;AF_raw=0.0116;AF_afr=0.0041;AF_sas=.;AF_amr=0.0095;AF_eas=0.0006;AF_nfe=0.0181;AF_fin=0.0049;AF_asj=0.0310;AF_oth=0.0138;non_topmed_AF_popmax=0.0177;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0216039;Kaviar_AC=3340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +18 3100051 rs6506059 T C 100 PASS AC=205;AF=0.913339;AN=214;NS=2504;DP=20191;EAS_AF=0.9683;AMR_AF=0.9496;AFR_AF=0.8343;EUR_AF=0.9384;SAS_AF=0.9121;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.913339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6506059;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9013;AF_popmax=0.9692;AF_male=0.9012;AF_female=0.9015;AF_raw=0.9012;AF_afr=0.8364;AF_sas=.;AF_amr=0.9586;AF_eas=0.9692;AF_nfe=0.9178;AF_fin=0.9335;AF_asj=0.9759;AF_oth=0.9228;non_topmed_AF_popmax=0.9704;non_neuro_AF_popmax=0.9692;non_cancer_AF_popmax=.;controls_AF_popmax=0.9737;Kaviar_AF=0.0335024;Kaviar_AC=872;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +18 3100429 rs7232329 G A 100 PASS AC=109;AF=0.348043;AN=214;NS=2504;DP=20400;EAS_AF=0.3562;AMR_AF=0.5331;AFR_AF=0.1407;EUR_AF=0.4692;SAS_AF=0.364;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348043;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7232329;CLNALLELEID=230821;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.4470;ExAC_nontcga_ALL=0.4424;ExAC_nontcga_AFR=0.2047;ExAC_nontcga_AMR=0.6178;ExAC_nontcga_EAS=0.3833;ExAC_nontcga_FIN=0.3915;ExAC_nontcga_NFE=0.4727;ExAC_nontcga_OTH=0.4779;ExAC_nontcga_SAS=0.3913;AF=0.3547;AF_popmax=0.5721;AF_male=0.3547;AF_female=0.3546;AF_raw=0.3544;AF_afr=0.1815;AF_sas=.;AF_amr=0.5721;AF_eas=0.3488;AF_nfe=0.4369;AF_fin=0.3500;AF_asj=0.5069;AF_oth=0.3895;non_topmed_AF_popmax=0.5718;non_neuro_AF_popmax=0.5380;non_cancer_AF_popmax=.;controls_AF_popmax=0.5325;Kaviar_AF=0.407026;Kaviar_AC=62927;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1519899|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|1 0|1 0|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 0|0 0|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 0|0 0|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 +18 3102499 rs147050513 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19575;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon22:c.G3260A:p.R1087Q,MYOM1:NM_003803:exon23:c.G3548A:p.R1183Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147050513;CLNALLELEID=230822;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_score_rankscore=0.853;MutationAssessor_pred=M;FATHMM_score=-1.41;FATHMM_converted_rankscore=0.806;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.671;PROVEAN_pred=D;VEST3_score=0.788;VEST3_rankscore=0.779;MetaSVM_score=0.517;MetaSVM_rankscore=0.908;MetaSVM_pred=D;MetaLR_score=0.711;MetaLR_rankscore=0.901;MetaLR_pred=D;M-CAP_score=0.155;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.517;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.258;CADD_raw_rankscore=0.864;CADD_phred=28.9;DANN_score=0.999;DANN_rankscore=0.930;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.838;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.607;Eigen-PC-raw=0.482;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.799;phastCons20way_mammalian_rankscore=0.336;SiPhy_29way_logOdds=19.3;SiPhy_29way_logOdds_rankscore=0.941;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0003;AF_female=7.186e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3102674 rs150189542 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22131;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150189542;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.762e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.446e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.367e-05;AF_popmax=0.0001;AF_male=5.72e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3112230 rs547850629 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21373;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547850629;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3112231 rs8096379 G C 100 PASS AC=135;AF=0.596046;AN=214;NS=2504;DP=21362;EAS_AF=0.7738;AMR_AF=0.6686;AFR_AF=0.4516;EUR_AF=0.5994;SAS_AF=0.5532;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.596046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8096379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5538;AF_popmax=0.7968;AF_male=0.5592;AF_female=0.5470;AF_raw=0.5537;AF_afr=0.4680;AF_sas=.;AF_amr=0.7288;AF_eas=0.7968;AF_nfe=0.5835;AF_fin=0.4790;AF_asj=0.6138;AF_oth=0.5572;non_topmed_AF_popmax=0.7970;non_neuro_AF_popmax=0.7968;non_cancer_AF_popmax=.;controls_AF_popmax=0.7817;Kaviar_AF=0.117793;Kaviar_AC=18211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|1 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 +18 3112252 rs55779127 C A 100 PASS AC=39;AF=0.0810703;AN=214;NS=2504;DP=20503;EAS_AF=0;AMR_AF=0.1052;AFR_AF=0.0204;EUR_AF=0.2018;SAS_AF=0.1053;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55779127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1805;ExAC_nontcga_ALL=0.1385;ExAC_nontcga_AFR=0.0449;ExAC_nontcga_AMR=0.0734;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.2051;ExAC_nontcga_NFE=0.1865;ExAC_nontcga_OTH=0.1641;ExAC_nontcga_SAS=0.1071;AF=0.1352;AF_popmax=0.1792;AF_male=0.1297;AF_female=0.1422;AF_raw=0.1354;AF_afr=0.0467;AF_sas=.;AF_amr=0.0849;AF_eas=0.0006;AF_nfe=0.1792;AF_fin=0.2114;AF_asj=0.1897;AF_oth=0.1952;non_topmed_AF_popmax=0.1819;non_neuro_AF_popmax=0.1789;non_cancer_AF_popmax=.;controls_AF_popmax=0.1840;Kaviar_AF=0.135807;Kaviar_AC=20996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3120060 rs6506068 G A 100 PASS AC=178;AF=0.852436;AN=214;NS=2504;DP=18509;EAS_AF=0.9762;AMR_AF=0.8847;AFR_AF=0.7716;EUR_AF=0.8052;SAS_AF=0.8599;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.852436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6506068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8027;AF_popmax=0.9826;AF_male=0.8052;AF_female=0.7995;AF_raw=0.7997;AF_afr=0.7721;AF_sas=.;AF_amr=0.9087;AF_eas=0.9826;AF_nfe=0.7970;AF_fin=0.7955;AF_asj=0.8103;AF_oth=0.8023;non_topmed_AF_popmax=0.9829;non_neuro_AF_popmax=0.9826;non_cancer_AF_popmax=.;controls_AF_popmax=0.9836;Kaviar_AF=0.808552;Kaviar_AC=21045;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1684796|N/A|GATA3|PAZAR,OREG1628683|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 +18 3126632 rs7505167 C T 100 PASS AC=146;AF=0.813698;AN=214;NS=2504;DP=19354;EAS_AF=0.9494;AMR_AF=0.647;AFR_AF=0.8593;EUR_AF=0.6829;SAS_AF=0.865;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.813698;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7505167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7487;AF_popmax=0.9563;AF_male=0.7516;AF_female=0.7451;AF_raw=0.7483;AF_afr=0.8224;AF_sas=.;AF_amr=0.6194;AF_eas=0.9563;AF_nfe=0.6995;AF_fin=0.7370;AF_asj=0.6966;AF_oth=0.7094;non_topmed_AF_popmax=0.9559;non_neuro_AF_popmax=0.9563;non_cancer_AF_popmax=.;controls_AF_popmax=0.9531;Kaviar_AF=0.140567;Kaviar_AC=21732;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1107687|N/A|TP63|JASPAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|0 1|1 0|0 +18 3126811 rs1071600 A G 100 PASS AC=32;AF=0.254393;AN=214;NS=2504;DP=20132;EAS_AF=0.3204;AMR_AF=0.1988;AFR_AF=0.3177;EUR_AF=0.1571;SAS_AF=0.2403;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;1000g2015aug_all=0.254393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1071600;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.377;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.194;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=1.58;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.001;MetaSVM_score=-0.949;MetaSVM_rankscore=0.413;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.079;CADD_raw_rankscore=0.101;CADD_phred=3.381;DANN_score=0.599;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_rankscore=0.154;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.086;Eigen-PC-raw=-0.898;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.595;integrated_fitCons_score_rankscore=0.332;integrated_confidence_value=0;GERP++_RS=1.43;GERP++_RS_rankscore=0.215;phyloP100way_vertebrate=0.467;phyloP100way_vertebrate_rankscore=0.216;phyloP20way_mammalian=0.145;phyloP20way_mammalian_rankscore=0.233;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=7.397;SiPhy_29way_logOdds_rankscore=0.260;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1415;ExAC_nontcga_ALL=0.2037;ExAC_nontcga_AFR=0.2751;ExAC_nontcga_AMR=0.2451;ExAC_nontcga_EAS=0.3299;ExAC_nontcga_FIN=0.1835;ExAC_nontcga_NFE=0.1533;ExAC_nontcga_OTH=0.1973;ExAC_nontcga_SAS=0.2534;AF=0.1921;AF_popmax=0.3045;AF_male=0.1926;AF_female=0.1913;AF_raw=0.1919;AF_afr=0.2658;AF_sas=.;AF_amr=0.2288;AF_eas=0.3045;AF_nfe=0.1416;AF_fin=0.1848;AF_asj=0.1517;AF_oth=0.1627;non_topmed_AF_popmax=0.3042;non_neuro_AF_popmax=0.3045;non_cancer_AF_popmax=.;controls_AF_popmax=0.3238;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +18 3129535 rs182865142 C T 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=18238;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182865142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=8.063e-05;AF=0.0024;AF_popmax=0.0040;AF_male=0.0023;AF_female=0.0025;AF_raw=0.0024;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0030983;Kaviar_AC=479;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000567718|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1278593|N/A|SMARCA4|PAZAR,OREG1246787|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.658426;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3134610 rs17177458 A G 100 PASS AC=34;AF=0.238019;AN=214;NS=2504;DP=15780;EAS_AF=0.3175;AMR_AF=0.1916;AFR_AF=0.2617;EUR_AF=0.1581;SAS_AF=0.2393;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.238019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17177458;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1403;ExAC_nontcga_ALL=0.2017;ExAC_nontcga_AFR=0.2273;ExAC_nontcga_AMR=0.2304;ExAC_nontcga_EAS=0.3145;ExAC_nontcga_FIN=0.1990;ExAC_nontcga_NFE=0.1591;ExAC_nontcga_OTH=0.1980;ExAC_nontcga_SAS=0.2608;AF=0.1836;AF_popmax=0.2895;AF_male=0.1849;AF_female=0.1820;AF_raw=0.1838;AF_afr=0.2213;AF_sas=.;AF_amr=0.2175;AF_eas=0.2895;AF_nfe=0.1491;AF_fin=0.1942;AF_asj=0.1483;AF_oth=0.1682;non_topmed_AF_popmax=0.2888;non_neuro_AF_popmax=0.2895;non_cancer_AF_popmax=.;controls_AF_popmax=0.3013;Kaviar_AF=0.180418;Kaviar_AC=27893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +18 3134826 rs143030509 A C 100 PASS AC=3;AF=0.00599042;AN=214;NS=2504;DP=18203;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143030509;CLNALLELEID=230846;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0018;AF=0.0120;AF_popmax=0.0152;AF_male=0.0118;AF_female=0.0124;AF_raw=0.0121;AF_afr=0.0021;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0152;AF_fin=0.0279;AF_asj=0.0138;AF_oth=0.0175;non_topmed_AF_popmax=0.0161;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0103362;Kaviar_AC=1598;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3135644 rs149528866 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18049;EAS_AF=0.002;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon15:c.G2110A:p.E704K,MYOM1:NM_019856:exon15:c.G2110A:p.E704K;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149528866;CLNALLELEID=230849;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.84;MutationAssessor_score_rankscore=0.212;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-2.34;PROVEAN_converted_rankscore=0.518;PROVEAN_pred=N;VEST3_score=0.89;VEST3_rankscore=0.902;MetaSVM_score=-0.786;MetaSVM_rankscore=0.560;MetaSVM_pred=T;MetaLR_score=0.209;MetaLR_rankscore=0.569;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.909;CADD_raw_rankscore=0.956;CADD_phred=35;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.895;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.721;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.529;phastCons20way_mammalian_rankscore=0.276;SiPhy_29way_logOdds=20.381;SiPhy_29way_logOdds_rankscore=0.989;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0039;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.0345;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0001;AF=0.0113;AF_popmax=0.0126;AF_male=0.0101;AF_female=0.0129;AF_raw=0.0114;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0032;AF_nfe=0.0126;AF_fin=0.0380;AF_asj=0.0138;AF_oth=0.0138;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0225;Kaviar_AF=0.0052457;Kaviar_AC=811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3142040 rs138431527 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18302;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon14:c.C1922T:p.P641L,MYOM1:NM_019856:exon14:c.C1922T:p.P641L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138431527;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.465;MutationAssessor_score_rankscore=0.989;MutationAssessor_pred=H;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-8.97;PROVEAN_converted_rankscore=0.983;PROVEAN_pred=D;VEST3_score=0.892;VEST3_rankscore=0.881;MetaSVM_score=0.849;MetaSVM_rankscore=0.950;MetaSVM_pred=D;MetaLR_score=0.810;MetaLR_rankscore=0.936;MetaLR_pred=D;M-CAP_score=0.255;M-CAP_rankscore=0.893;M-CAP_pred=D;REVEL_score=0.785;REVEL_rankscore=0.930;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.299;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.932;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.135;Eigen-PC-raw=1.055;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.944;phastCons20way_mammalian_rankscore=0.418;SiPhy_29way_logOdds=20.279;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.851e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.692e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.118e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.579271;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3164385 rs11659820 C T 100 PASS AC=54;AF=0.16873;AN=214;NS=2504;DP=17303;EAS_AF=0.0079;AMR_AF=0.1744;AFR_AF=0.2549;EUR_AF=0.2366;SAS_AF=0.1442;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon10:c.G1392A:p.R464R,MYOM1:NM_019856:exon10:c.G1392A:p.R464R;1000g2015aug_all=0.16873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11659820;CLNALLELEID=230876;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2072;ExAC_nontcga_ALL=0.2151;ExAC_nontcga_AFR=0.2890;ExAC_nontcga_AMR=0.1948;ExAC_nontcga_EAS=0.0078;ExAC_nontcga_FIN=0.1741;ExAC_nontcga_NFE=0.2444;ExAC_nontcga_OTH=0.1947;ExAC_nontcga_SAS=0.2007;AF=0.1957;AF_popmax=0.2695;AF_male=0.1948;AF_female=0.1967;AF_raw=0.1958;AF_afr=0.2695;AF_sas=.;AF_amr=0.1643;AF_eas=0.0006;AF_nfe=0.1897;AF_fin=0.1378;AF_asj=0.1690;AF_oth=0.1867;non_topmed_AF_popmax=0.2689;non_neuro_AF_popmax=0.2653;non_cancer_AF_popmax=.;controls_AF_popmax=0.2590;Kaviar_AF=0.182617;Kaviar_AC=28233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|0 +18 3168816 rs2230167 G A 100 PASS AC=45;AF=0.282149;AN=214;NS=2504;DP=18941;EAS_AF=0.2798;AMR_AF=0.2061;AFR_AF=0.3313;EUR_AF=0.2356;SAS_AF=0.32;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N;1000g2015aug_all=0.282149;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230167;CLNALLELEID=230878;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.042;esp6500siv2_ea=0.2648;ExAC_nontcga_ALL=0.2611;ExAC_nontcga_AFR=0.3256;ExAC_nontcga_AMR=0.1867;ExAC_nontcga_EAS=0.2721;ExAC_nontcga_FIN=0.2263;ExAC_nontcga_NFE=0.2619;ExAC_nontcga_OTH=0.2289;ExAC_nontcga_SAS=0.2858;AF=0.2819;AF_popmax=0.3199;AF_male=0.2801;AF_female=0.2841;AF_raw=0.2820;AF_afr=0.3199;AF_sas=.;AF_amr=0.2182;AF_eas=0.2764;AF_nfe=0.2756;AF_fin=0.2440;AF_asj=0.2897;AF_oth=0.2440;non_topmed_AF_popmax=0.3206;non_neuro_AF_popmax=0.3123;non_cancer_AF_popmax=.;controls_AF_popmax=0.3131;Kaviar_AF=0.258082;Kaviar_AC=39900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3173873 rs10153407 G A 100 PASS AC=60;AF=0.315895;AN=214;NS=2504;DP=17358;EAS_AF=0.2669;AMR_AF=0.2248;AFR_AF=0.4002;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3391;AF_popmax=0.4146;AF_male=0.3373;AF_female=0.3413;AF_raw=0.3390;AF_afr=0.4146;AF_sas=.;AF_amr=0.2506;AF_eas=0.2416;AF_nfe=0.3229;AF_fin=0.3003;AF_asj=0.3448;AF_oth=0.2943;non_topmed_AF_popmax=0.4147;non_neuro_AF_popmax=0.4215;non_cancer_AF_popmax=.;controls_AF_popmax=0.4220;Kaviar_AF=0.0601674;Kaviar_AC=9302;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3173964 rs2230163 G A 100 PASS AC=60;AF=0.316094;AN=214;NS=2504;DP=16674;EAS_AF=0.2669;AMR_AF=0.2262;AFR_AF=0.4002;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H;1000g2015aug_all=0.316094;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230163;CLNALLELEID=230880;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3157;ExAC_nontcga_ALL=0.2995;ExAC_nontcga_AFR=0.4012;ExAC_nontcga_AMR=0.2008;ExAC_nontcga_EAS=0.2459;ExAC_nontcga_FIN=0.2929;ExAC_nontcga_NFE=0.3110;ExAC_nontcga_OTH=0.2551;ExAC_nontcga_SAS=0.3064;AF=0.3394;AF_popmax=0.4153;AF_male=0.3377;AF_female=0.3414;AF_raw=0.3391;AF_afr=0.4153;AF_sas=.;AF_amr=0.25;AF_eas=0.2410;AF_nfe=0.3235;AF_fin=0.2993;AF_asj=0.3448;AF_oth=0.2947;non_topmed_AF_popmax=0.4154;non_neuro_AF_popmax=0.4214;non_cancer_AF_popmax=.;controls_AF_popmax=0.4208;Kaviar_AF=0.29834;Kaviar_AC=46124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3174018 rs17183883 C T 100 PASS AC=40;AF=0.192292;AN=214;NS=2504;DP=17593;EAS_AF=0.2589;AMR_AF=0.147;AFR_AF=0.1097;EUR_AF=0.2177;SAS_AF=0.2413;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17183883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2582;ExAC_nontcga_ALL=0.2209;ExAC_nontcga_AFR=0.1183;ExAC_nontcga_AMR=0.1586;ExAC_nontcga_EAS=0.2390;ExAC_nontcga_FIN=0.2136;ExAC_nontcga_NFE=0.2474;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2252;AF=0.2179;AF_popmax=0.2670;AF_male=0.2145;AF_female=0.2221;AF_raw=0.2183;AF_afr=0.1263;AF_sas=.;AF_amr=0.1730;AF_eas=0.2301;AF_nfe=0.2670;AF_fin=0.2308;AF_asj=0.2674;AF_oth=0.2173;non_topmed_AF_popmax=0.2717;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2827;Kaviar_AF=0.221084;Kaviar_AC=34180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174056 rs10153428 C A 100 PASS AC=60;AF=0.315695;AN=214;NS=2504;DP=18787;EAS_AF=0.2669;AMR_AF=0.2248;AFR_AF=0.3994;EUR_AF=0.3062;SAS_AF=0.3272;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3384;AF_popmax=0.4142;AF_male=0.3373;AF_female=0.3397;AF_raw=0.3387;AF_afr=0.4142;AF_sas=.;AF_amr=0.25;AF_eas=0.24;AF_nfe=0.3220;AF_fin=0.3001;AF_asj=0.3448;AF_oth=0.2939;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4208;non_cancer_AF_popmax=.;controls_AF_popmax=0.4206;Kaviar_AF=0.0595529;Kaviar_AC=9207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.315695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10153428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3240;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3384;AF_popmax=0.4142;AF_male=0.3373;AF_female=0.3397;AF_raw=0.3387;AF_afr=0.4142;AF_sas=.;AF_amr=0.25;AF_eas=0.24;AF_nfe=0.3220;AF_fin=0.3001;AF_asj=0.3448;AF_oth=0.2939;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4208;non_cancer_AF_popmax=.;controls_AF_popmax=0.4206;Kaviar_AF=0.0595529;Kaviar_AC=9207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3174064 rs72860297 G T 100 PASS AC=40;AF=0.191893;AN=214;NS=2504;DP=19089;EAS_AF=0.2589;AMR_AF=0.147;AFR_AF=0.1082;EUR_AF=0.2177;SAS_AF=0.2413;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72860297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2652;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2216;AF_popmax=0.2671;AF_male=0.2183;AF_female=0.2257;AF_raw=0.2176;AF_afr=0.1334;AF_sas=.;AF_amr=0.1754;AF_eas=0.2300;AF_nfe=0.2671;AF_fin=0.2319;AF_asj=0.2674;AF_oth=0.2180;non_topmed_AF_popmax=0.2719;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2841;Kaviar_AF=0.0391198;Kaviar_AC=6048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72860297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2652;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2216;AF_popmax=0.2671;AF_male=0.2183;AF_female=0.2257;AF_raw=0.2176;AF_afr=0.1334;AF_sas=.;AF_amr=0.1754;AF_eas=0.2300;AF_nfe=0.2671;AF_fin=0.2319;AF_asj=0.2674;AF_oth=0.2180;non_topmed_AF_popmax=0.2719;non_neuro_AF_popmax=0.2664;non_cancer_AF_popmax=.;controls_AF_popmax=0.2841;Kaviar_AF=0.0391198;Kaviar_AC=6048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174076 rs35188311 A AAC 100 PASS AC=40;AF=0.233427;AN=214;NS=2504;DP=21870;EAS_AF=0.2599;AMR_AF=0.1556;AFR_AF=0.2625;EUR_AF=0.2177;SAS_AF=0.2382;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35188311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2591;ExAC_nontcga_ALL=0.2335;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.1639;ExAC_nontcga_EAS=0.2375;ExAC_nontcga_FIN=0.2144;ExAC_nontcga_NFE=0.2491;ExAC_nontcga_OTH=0.1789;ExAC_nontcga_SAS=0.2256;AF=0.2591;AF_popmax=0.2686;AF_male=0.2582;AF_female=0.2603;AF_raw=0.2577;AF_afr=0.2686;AF_sas=.;AF_amr=0.1912;AF_eas=0.2296;AF_nfe=0.2683;AF_fin=0.2319;AF_asj=0.2746;AF_oth=0.2332;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2775;non_cancer_AF_popmax=.;controls_AF_popmax=0.2832;Kaviar_AF=0.0141913;Kaviar_AC=2194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.233427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35188311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2591;ExAC_nontcga_ALL=0.2335;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.1639;ExAC_nontcga_EAS=0.2375;ExAC_nontcga_FIN=0.2144;ExAC_nontcga_NFE=0.2491;ExAC_nontcga_OTH=0.1789;ExAC_nontcga_SAS=0.2256;AF=0.2591;AF_popmax=0.2686;AF_male=0.2582;AF_female=0.2603;AF_raw=0.2577;AF_afr=0.2686;AF_sas=.;AF_amr=0.1912;AF_eas=0.2296;AF_nfe=0.2683;AF_fin=0.2319;AF_asj=0.2746;AF_oth=0.2332;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2775;non_cancer_AF_popmax=.;controls_AF_popmax=0.2832;Kaviar_AF=0.0141913;Kaviar_AC=2194;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3174084 rs150558788 C CAT 100 PASS AC=20;AF=0.0810703;AN=214;NS=2504;DP=20163;EAS_AF=0.0079;AMR_AF=0.0692;AFR_AF=0.1346;EUR_AF=0.0885;SAS_AF=0.0849;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150558788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0071;ExAC_nontcga_FIN=0.0798;ExAC_nontcga_NFE=0.0617;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.0794;AF=0.0821;AF_popmax=0.1539;AF_male=0.0816;AF_female=0.0828;AF_raw=0.0823;AF_afr=0.1539;AF_sas=.;AF_amr=0.0603;AF_eas=0.0116;AF_nfe=0.0548;AF_fin=0.0683;AF_asj=0.0690;AF_oth=0.0618;non_topmed_AF_popmax=0.1543;non_neuro_AF_popmax=0.1517;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0810703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150558788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0071;ExAC_nontcga_FIN=0.0798;ExAC_nontcga_NFE=0.0617;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.0794;AF=0.0821;AF_popmax=0.1539;AF_male=0.0816;AF_female=0.0828;AF_raw=0.0823;AF_afr=0.1539;AF_sas=.;AF_amr=0.0603;AF_eas=0.0116;AF_nfe=0.0548;AF_fin=0.0683;AF_asj=0.0690;AF_oth=0.0618;non_topmed_AF_popmax=0.1543;non_neuro_AF_popmax=0.1517;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0020051;Kaviar_AC=310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3174238 rs78567624 G A 100 PASS AC=7;AF=0.00958466;AN=214;NS=2504;DP=20328;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0308;SAS_AF=0.0123;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78567624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0269;ExAC_nontcga_ALL=0.0219;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0376;ExAC_nontcga_NFE=0.0321;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0108;AF=0.0188;AF_popmax=0.0248;AF_male=0.0183;AF_female=0.0195;AF_raw=0.0189;AF_afr=0.0044;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0248;AF_fin=0.0380;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.0249;non_neuro_AF_popmax=0.0251;non_cancer_AF_popmax=.;controls_AF_popmax=0.0216;Kaviar_AF=0.0211834;Kaviar_AC=3275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +18 3176017 rs17177479 C T 100 PASS AC=39;AF=0.191693;AN=214;NS=2504;DP=19845;EAS_AF=0.2579;AMR_AF=0.147;AFR_AF=0.1089;EUR_AF=0.2177;SAS_AF=0.2403;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17177479;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2556;ExAC_nontcga_ALL=0.2256;ExAC_nontcga_AFR=0.1220;ExAC_nontcga_AMR=0.1691;ExAC_nontcga_EAS=0.2425;ExAC_nontcga_FIN=0.2201;ExAC_nontcga_NFE=0.2505;ExAC_nontcga_OTH=0.1710;ExAC_nontcga_SAS=0.2296;AF=0.2177;AF_popmax=0.2668;AF_male=0.2139;AF_female=0.2224;AF_raw=0.2180;AF_afr=0.1254;AF_sas=.;AF_amr=0.1733;AF_eas=0.2314;AF_nfe=0.2668;AF_fin=0.2322;AF_asj=0.2655;AF_oth=0.2164;non_topmed_AF_popmax=0.2718;non_neuro_AF_popmax=0.2661;non_cancer_AF_popmax=.;controls_AF_popmax=0.2836;Kaviar_AF=0.212591;Kaviar_AC=32867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 +18 3176040 rs8099021 C G 100 PASS AC=138;AF=0.757188;AN=214;NS=2504;DP=21009;EAS_AF=0.7421;AMR_AF=0.7579;AFR_AF=0.7829;EUR_AF=0.7097;SAS_AF=0.7863;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;1000g2015aug_all=0.757188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8099021;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_converted_rankscore=0.083;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.62;MutationAssessor_score_rankscore=0.158;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=0.65;PROVEAN_converted_rankscore=0.023;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.916;MetaSVM_rankscore=0.462;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.156;REVEL_rankscore=0.412;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.049;CADD_raw_rankscore=0.030;CADD_phred=0.013;DANN_score=0.223;DANN_rankscore=0.009;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.891;Eigen-PC-raw=-0.788;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.601;integrated_fitCons_score_rankscore=0.348;integrated_confidence_value=0;GERP++_RS=1.97;GERP++_RS_rankscore=0.252;phyloP100way_vertebrate=0.168;phyloP100way_vertebrate_rankscore=0.163;phyloP20way_mammalian=-0.313;phyloP20way_mammalian_rankscore=0.078;phastCons100way_vertebrate=0.682;phastCons100way_vertebrate_rankscore=0.282;phastCons20way_mammalian=0.306;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=14.746;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9992;dbscSNV_RF_SCORE=0.75;esp6500siv2_ea=0.7156;ExAC_nontcga_ALL=0.7411;ExAC_nontcga_AFR=0.7998;ExAC_nontcga_AMR=0.7799;ExAC_nontcga_EAS=0.7499;ExAC_nontcga_FIN=0.7606;ExAC_nontcga_NFE=0.7034;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7962;AF=0.7582;AF_popmax=0.8092;AF_male=0.7566;AF_female=0.7601;AF_raw=0.7579;AF_afr=0.8092;AF_sas=.;AF_amr=0.7358;AF_eas=0.7342;AF_nfe=0.7317;AF_fin=0.7776;AF_asj=0.7069;AF_oth=0.7274;non_topmed_AF_popmax=0.8096;non_neuro_AF_popmax=0.8156;non_cancer_AF_popmax=.;controls_AF_popmax=0.8157;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0.5 GT 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 1|1 1|1 0|0 0|0 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|1 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|1 1|1 1|0 +18 3176063 rs2230162 C T 100 PASS AC=59;AF=0.273163;AN=214;NS=2504;DP=22191;EAS_AF=0.2659;AMR_AF=0.2161;AFR_AF=0.2436;EUR_AF=0.3062;SAS_AF=0.3272;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G;1000g2015aug_all=0.273163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230162;CLNALLELEID=230884;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3116;ExAC_nontcga_ALL=0.2845;ExAC_nontcga_AFR=0.2659;ExAC_nontcga_AMR=0.1936;ExAC_nontcga_EAS=0.2423;ExAC_nontcga_FIN=0.2904;ExAC_nontcga_NFE=0.3062;ExAC_nontcga_OTH=0.2485;ExAC_nontcga_SAS=0.3037;AF=0.3001;AF_popmax=0.3222;AF_male=0.2959;AF_female=0.3053;AF_raw=0.3003;AF_afr=0.2791;AF_sas=.;AF_amr=0.2335;AF_eas=0.2429;AF_nfe=0.3222;AF_fin=0.3003;AF_asj=0.3345;AF_oth=0.2791;non_topmed_AF_popmax=0.3242;non_neuro_AF_popmax=0.3221;non_cancer_AF_popmax=.;controls_AF_popmax=0.3267;Kaviar_AF=0.282008;Kaviar_AC=43599;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.189371;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|0 +18 3176190 rs202240743 A AACACACACAT 100 PASS AC=20;AF=0.0808706;AN=214;NS=2504;DP=23160;EAS_AF=0.0079;AMR_AF=0.0692;AFR_AF=0.1339;EUR_AF=0.0885;SAS_AF=0.0849;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0808706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0155602;Kaviar_AC=405;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 3188715 rs73375192 T C 100 PASS AC=16;AF=0.0898562;AN=214;NS=2504;DP=19638;EAS_AF=0.002;AMR_AF=0.072;AFR_AF=0.205;EUR_AF=0.0696;SAS_AF=0.0583;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73375192;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0573;ExAC_nontcga_ALL=0.1075;ExAC_nontcga_AFR=0.2565;ExAC_nontcga_AMR=0.0811;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0446;ExAC_nontcga_NFE=0.0944;ExAC_nontcga_OTH=0.0988;ExAC_nontcga_SAS=0.1161;AF=0.0818;AF_popmax=0.1868;AF_male=0.0842;AF_female=0.0787;AF_raw=0.0820;AF_afr=0.1868;AF_sas=.;AF_amr=0.0604;AF_eas=0;AF_nfe=0.0465;AF_fin=0.0291;AF_asj=0.0764;AF_oth=0.0470;non_topmed_AF_popmax=0.1865;non_neuro_AF_popmax=0.1882;non_cancer_AF_popmax=.;controls_AF_popmax=0.1872;Kaviar_AF=0.0493655;Kaviar_AC=7632;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188778 rs139422575 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18216;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.G739A:p.E247K,MYOM1:NM_019856:exon4:c.G739A:p.E247K;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139422575;CLNALLELEID=230886;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.939;Polyphen2_HDIV_rankscore=0.550;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.523;Polyphen2_HVAR_rankscore=0.529;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.411;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.499;MutationTaster_pred=D;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=0.87;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.81;VEST3_rankscore=0.799;MetaSVM_score=-1.028;MetaSVM_rankscore=0.212;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_rankscore=0.417;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.249;REVEL_rankscore=0.562;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.491;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.994;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.705;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.371;Eigen-PC-raw=0.460;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=3.350;phyloP100way_vertebrate_rankscore=0.517;phyloP20way_mammalian=0.914;phyloP20way_mammalian_rankscore=0.427;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.735;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0106;ExAC_nontcga_SAS=0.0018;AF=0.0035;AF_popmax=0.0083;AF_male=0.0036;AF_female=0.0034;AF_raw=0.0035;AF_afr=0.0008;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0049;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0040103;Kaviar_AC=620;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188857 rs2230166 A G 100 PASS AC=16;AF=0.0894569;AN=214;NS=2504;DP=15540;EAS_AF=0.001;AMR_AF=0.072;AFR_AF=0.2042;EUR_AF=0.0696;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T660C:p.S220S,MYOM1:NM_019856:exon4:c.T660C:p.S220S;1000g2015aug_all=0.0894569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230166;CLNALLELEID=230887;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0589;ExAC_nontcga_ALL=0.0609;ExAC_nontcga_AFR=0.1923;ExAC_nontcga_AMR=0.0346;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0310;ExAC_nontcga_NFE=0.0574;ExAC_nontcga_OTH=0.0466;ExAC_nontcga_SAS=0.0642;AF=0.0815;AF_popmax=0.1858;AF_male=0.0838;AF_female=0.0788;AF_raw=0.0818;AF_afr=0.1858;AF_sas=.;AF_amr=0.0601;AF_eas=0;AF_nfe=0.0466;AF_fin=0.0291;AF_asj=0.0793;AF_oth=0.0478;non_topmed_AF_popmax=0.1856;non_neuro_AF_popmax=0.1869;non_cancer_AF_popmax=.;controls_AF_popmax=0.1864;Kaviar_AF=0.0124901;Kaviar_AC=1931;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188873 rs2230165 G A 100 PASS AC=16;AF=0.0716853;AN=214;NS=2504;DP=15353;EAS_AF=0.002;AMR_AF=0.0504;AFR_AF=0.149;EUR_AF=0.0676;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C644T:p.T215M,MYOM1:NM_019856:exon4:c.C644T:p.T215M;1000g2015aug_all=0.0716853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230165;CLNALLELEID=230888;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.133;SIFT_converted_rankscore=0.282;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_rankscore=0.475;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.436;Polyphen2_HVAR_pred=B;LRT_score=0.654;LRT_converted_rankscore=0.059;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=0.1;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.095;MetaSVM_score=-1.107;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.500;CADD_raw_rankscore=0.142;CADD_phred=7.431;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.085;Eigen-PC-raw=-1.240;GenoCanyon_score=0.933;GenoCanyon_score_rankscore=0.271;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=-0.099;phyloP100way_vertebrate_rankscore=0.109;phyloP20way_mammalian=0.421;phyloP20way_mammalian_rankscore=0.276;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0586;ExAC_nontcga_ALL=0.0558;ExAC_nontcga_AFR=0.1404;ExAC_nontcga_AMR=0.0285;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0312;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0639;AF=0.0666;AF_popmax=0.1338;AF_male=0.0686;AF_female=0.0642;AF_raw=0.0669;AF_afr=0.1338;AF_sas=.;AF_amr=0.0521;AF_eas=0;AF_nfe=0.0463;AF_fin=0.0291;AF_asj=0.0793;AF_oth=0.0443;non_topmed_AF_popmax=0.1335;non_neuro_AF_popmax=0.1318;non_cancer_AF_popmax=.;controls_AF_popmax=0.1339;Kaviar_AF=0.055562;Kaviar_AC=8590;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188927 rs142735495 G A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=15415;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C590T:p.T197M,MYOM1:NM_019856:exon4:c.C590T:p.T197M;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142735495;CLNALLELEID=230889;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.251;SIFT_converted_rankscore=0.221;SIFT_pred=T;Polyphen2_HDIV_score=0.726;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.202;Polyphen2_HVAR_rankscore=0.353;Polyphen2_HVAR_pred=B;LRT_score=0.216;LRT_converted_rankscore=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.89;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.089;MetaSVM_score=-1.084;MetaSVM_rankscore=0.065;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_rankscore=0.183;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.419;CADD_raw_rankscore=0.060;CADD_phred=0.348;DANN_score=0.674;DANN_rankscore=0.081;fathmm-MKL_coding_score=0.008;fathmm-MKL_coding_rankscore=0.033;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.699;Eigen-PC-raw=-1.803;GenoCanyon_score=0.972;GenoCanyon_score_rankscore=0.293;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.56;GERP++_RS_rankscore=0.080;phyloP100way_vertebrate=-1.165;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=-2.873;phyloP20way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.442;SiPhy_29way_logOdds_rankscore=0.109;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0131;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0021669;Kaviar_AC=335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3188976 rs1962519 A G 100 PASS AC=67;AF=0.443291;AN=214;NS=2504;DP=17012;EAS_AF=0.8363;AMR_AF=0.402;AFR_AF=0.1641;EUR_AF=0.4026;SAS_AF=0.4867;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1962519;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.088;SIFT_converted_rankscore=0.323;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_rankscore=0.568;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_rankscore=0.530;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_score_rankscore=0.463;MutationAssessor_pred=L;FATHMM_score=0.73;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.167;VEST3_rankscore=0.204;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.095;CADD_raw_rankscore=0.313;CADD_phred=16.82;DANN_score=0.988;DANN_rankscore=0.456;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_rankscore=0.151;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.454;Eigen-PC-raw=-0.503;GenoCanyon_score=0.942;GenoCanyon_score_rankscore=0.275;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=0.196;phyloP100way_vertebrate_rankscore=0.169;phyloP20way_mammalian=1.171;phyloP20way_mammalian_rankscore=0.901;phastCons100way_vertebrate=0.440;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.092;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=7.638;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4153;ExAC_nontcga_ALL=0.4401;ExAC_nontcga_AFR=0.1931;ExAC_nontcga_AMR=0.3998;ExAC_nontcga_EAS=0.8176;ExAC_nontcga_FIN=0.4921;ExAC_nontcga_NFE=0.4159;ExAC_nontcga_OTH=0.4333;ExAC_nontcga_SAS=0.4743;AF=0.4027;AF_popmax=0.8216;AF_male=0.4022;AF_female=0.4033;AF_raw=0.4029;AF_afr=0.2078;AF_sas=.;AF_amr=0.3884;AF_eas=0.8216;AF_nfe=0.4435;AF_fin=0.5135;AF_asj=0.4371;AF_oth=0.4341;non_topmed_AF_popmax=0.8231;non_neuro_AF_popmax=0.8216;non_cancer_AF_popmax=.;controls_AF_popmax=0.8263;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 +18 3214918 rs7232679 G C 100 PASS AC=34;AF=0.286142;AN=214;NS=2504;DP=16037;EAS_AF=0.2252;AMR_AF=0.2478;AFR_AF=0.388;EUR_AF=0.2416;SAS_AF=0.2843;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.286142;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7232679;CLNALLELEID=230896;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2615;ExAC_nontcga_ALL=0.2852;ExAC_nontcga_AFR=0.3797;ExAC_nontcga_AMR=0.2093;ExAC_nontcga_EAS=0.2088;ExAC_nontcga_FIN=0.2986;ExAC_nontcga_NFE=0.2858;ExAC_nontcga_OTH=0.2821;ExAC_nontcga_SAS=0.3390;AF=0.3140;AF_popmax=0.3875;AF_male=0.3120;AF_female=0.3164;AF_raw=0.3143;AF_afr=0.3875;AF_sas=.;AF_amr=0.2239;AF_eas=0.2118;AF_nfe=0.2878;AF_fin=0.3222;AF_asj=0.2708;AF_oth=0.2987;non_topmed_AF_popmax=0.3880;non_neuro_AF_popmax=0.3735;non_cancer_AF_popmax=.;controls_AF_popmax=0.3780;Kaviar_AF=0.264169;Kaviar_AC=40841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +18 3215004 rs545000193 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15311;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.C218T:p.A73V,MYOM1:NM_019856:exon2:c.C218T:p.A73V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545000193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.493;Polyphen2_HDIV_rankscore=0.351;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_rankscore=0.267;Polyphen2_HVAR_pred=B;LRT_score=0.364;LRT_converted_rankscore=0.136;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=0.86;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.195;PROVEAN_pred=N;VEST3_score=0.337;VEST3_rankscore=0.398;MetaSVM_score=-1.085;MetaSVM_rankscore=0.063;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.270;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.163;M-CAP_pred=T;REVEL_score=0.027;REVEL_rankscore=0.062;MutPred_score=0.186;MutPred_rankscore=0.095;CADD_raw=1.311;CADD_raw_rankscore=0.222;CADD_phred=12.33;DANN_score=0.993;DANN_rankscore=0.582;fathmm-MKL_coding_score=0.613;fathmm-MKL_coding_rankscore=0.312;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.573;Eigen-PC-raw=-0.519;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.79;GERP++_RS_rankscore=0.426;phyloP100way_vertebrate=0.216;phyloP100way_vertebrate_rankscore=0.172;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.190;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=12.050;SiPhy_29way_logOdds_rankscore=0.526;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215030 rs9964300 C A 100 PASS AC=9;AF=0.0730831;AN=214;NS=2504;DP=14216;EAS_AF=0.0119;AMR_AF=0.0994;AFR_AF=0.1505;EUR_AF=0.0547;SAS_AF=0.0317;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G192T:p.A64A,MYOM1:NM_019856:exon2:c.G192T:p.A64A;1000g2015aug_all=0.0730831;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9964300;CLNALLELEID=230898;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0565;ExAC_nontcga_ALL=0.0649;ExAC_nontcga_AFR=0.1294;ExAC_nontcga_AMR=0.0819;ExAC_nontcga_EAS=0.0074;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0653;ExAC_nontcga_OTH=0.0716;ExAC_nontcga_SAS=0.0490;AF=0.0827;AF_popmax=0.1363;AF_male=0.0835;AF_female=0.0816;AF_raw=0.0829;AF_afr=0.1363;AF_sas=.;AF_amr=0.0768;AF_eas=0.0019;AF_nfe=0.0661;AF_fin=0.0678;AF_asj=0.0276;AF_oth=0.0710;non_topmed_AF_popmax=0.1363;non_neuro_AF_popmax=0.1263;non_cancer_AF_popmax=.;controls_AF_popmax=0.1263;Kaviar_AF=0.063311;Kaviar_AC=9788;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215083 rs202145133 T C 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=13177;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.A139G:p.S47G,MYOM1:NM_019856:exon2:c.A139G:p.S47G;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202145133;CLNALLELEID=230899;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_rankscore=0.305;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.074;Polyphen2_HVAR_rankscore=0.272;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=0.508;MutationTaster_converted_rankscore=0.318;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.455;VEST3_rankscore=0.507;MetaSVM_score=-0.874;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.284;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.576;CADD_raw_rankscore=0.371;CADD_phred=19.95;DANN_score=0.987;DANN_rankscore=0.441;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.018;Eigen-PC-raw=0.153;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=1.136;phyloP100way_vertebrate_rankscore=0.309;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.450;SiPhy_29way_logOdds_rankscore=0.605;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0354;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0;AF=0.0116;AF_popmax=0.0125;AF_male=0.0101;AF_female=0.0135;AF_raw=0.0116;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0125;AF_fin=0.0412;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0123;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0045924;Kaviar_AC=710;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.661735;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215131 rs76382984 G T 100 PASS AC=2;AF=0.013778;AN=214;NS=2504;DP=15479;EAS_AF=0.0337;AMR_AF=0.0231;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.C91A:p.R31R,MYOM1:NM_019856:exon2:c.C91A:p.R31R;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76382984;CLNALLELEID=230902;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0175;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0.0424;ExAC_nontcga_FIN=0.0395;ExAC_nontcga_NFE=0.0174;ExAC_nontcga_OTH=0.0229;ExAC_nontcga_SAS=0.0071;AF=0.0168;AF_popmax=0.0410;AF_male=0.0163;AF_female=0.0175;AF_raw=0.0168;AF_afr=0.0017;AF_sas=.;AF_amr=0.0189;AF_eas=0.0410;AF_nfe=0.0169;AF_fin=0.0391;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0371;Kaviar_AF=0.0162676;Kaviar_AC=2515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.172521;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215156 rs1662316 C G 100 PASS AC=11;AF=0.128994;AN=214;NS=2504;DP=16440;EAS_AF=0.1865;AMR_AF=0.0879;AFR_AF=0.1346;EUR_AF=0.0934;SAS_AF=0.1278;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G66C:p.V22V,MYOM1:NM_019856:exon2:c.G66C:p.V22V;1000g2015aug_all=0.128994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1662316;CLNALLELEID=230903;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0858;ExAC_nontcga_ALL=0.1069;ExAC_nontcga_AFR=0.1313;ExAC_nontcga_AMR=0.0757;ExAC_nontcga_EAS=0.1695;ExAC_nontcga_FIN=0.1004;ExAC_nontcga_NFE=0.0988;ExAC_nontcga_OTH=0.1092;ExAC_nontcga_SAS=0.1153;AF=0.1076;AF_popmax=0.18;AF_male=0.1078;AF_female=0.1073;AF_raw=0.1079;AF_afr=0.1265;AF_sas=.;AF_amr=0.0637;AF_eas=0.18;AF_nfe=0.0948;AF_fin=0.0944;AF_asj=0.1;AF_oth=0.1128;non_topmed_AF_popmax=0.1792;non_neuro_AF_popmax=0.18;non_cancer_AF_popmax=.;controls_AF_popmax=0.1784;Kaviar_AF=0.0951669;Kaviar_AC=14713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215158 rs1791085 C G 100 PASS AC=11;AF=0.127995;AN=214;NS=2504;DP=16535;EAS_AF=0.1845;AMR_AF=0.0879;AFR_AF=0.1339;EUR_AF=0.0915;SAS_AF=0.1278;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G64C:p.V22L,MYOM1:NM_019856:exon2:c.G64C:p.V22L;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1791085;CLNALLELEID=230905;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.308;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=-1.745;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.372;FATHMM_pred=T;PROVEAN_score=0.42;PROVEAN_converted_rankscore=0.034;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.047;MetaSVM_score=-1.046;MetaSVM_rankscore=0.156;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.149;CADD_raw_rankscore=0.205;CADD_phred=11.48;DANN_score=0.637;DANN_rankscore=0.071;fathmm-MKL_coding_score=0.119;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.728;Eigen-PC-raw=-0.459;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=3.117;phyloP100way_vertebrate_rankscore=0.499;phyloP20way_mammalian=0.073;phyloP20way_mammalian_rankscore=0.181;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=9.338;SiPhy_29way_logOdds_rankscore=0.370;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.1073;ExAC_nontcga_AFR=0.1318;ExAC_nontcga_AMR=0.0758;ExAC_nontcga_EAS=0.1698;ExAC_nontcga_FIN=0.1010;ExAC_nontcga_NFE=0.0993;ExAC_nontcga_OTH=0.1096;ExAC_nontcga_SAS=0.1154;AF=0.1074;AF_popmax=0.1795;AF_male=0.1076;AF_female=0.1071;AF_raw=0.1078;AF_afr=0.1259;AF_sas=.;AF_amr=0.0638;AF_eas=0.1795;AF_nfe=0.0948;AF_fin=0.0944;AF_asj=0.1;AF_oth=0.1123;non_topmed_AF_popmax=0.1788;non_neuro_AF_popmax=0.1795;non_cancer_AF_popmax=.;controls_AF_popmax=0.1769;Kaviar_AF=0.0956003;Kaviar_AC=14780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 3215230 rs1662315 C T 100 PASS AC=55;AF=0.335663;AN=214;NS=2504;DP=19403;EAS_AF=0.6131;AMR_AF=0.2248;AFR_AF=0.2958;EUR_AF=0.2465;SAS_AF=0.274;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=MYOM1;GeneDetail.refGene=NM_003803:c.-9G>A\x3bNM_019856:c.-9G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1662315;CLNALLELEID=230907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2245;ExAC_nontcga_ALL=0.3084;ExAC_nontcga_AFR=0.3294;ExAC_nontcga_AMR=0.2527;ExAC_nontcga_EAS=0.6391;ExAC_nontcga_FIN=0.3020;ExAC_nontcga_NFE=0.2693;ExAC_nontcga_OTH=0.2848;ExAC_nontcga_SAS=0.2923;AF=0.2699;AF_popmax=0.6261;AF_male=0.2745;AF_female=0.2641;AF_raw=0.2701;AF_afr=0.2900;AF_sas=.;AF_amr=0.2158;AF_eas=0.6261;AF_nfe=0.2311;AF_fin=0.2569;AF_asj=0.2310;AF_oth=0.2440;non_topmed_AF_popmax=0.6266;non_neuro_AF_popmax=0.6261;non_cancer_AF_popmax=.;controls_AF_popmax=0.6162;Kaviar_AF=0.251064;Kaviar_AC=38815;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 +18 9102713 rs563736832 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11235;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NDUFV2;GeneDetail.refGene=NM_021074:c.-29G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563736832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.194e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.759e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000100502|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1879398|N/A|STAT1|PAZAR,OREG1480278|N/A|E2F4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1543500|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.548319;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +18 9102738 rs201985522 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11282;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=NDUFV2;GeneDetail.refGene=NM_021074:c.-4C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201985522;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.982e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000100502|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0253837|N/A|YY1|JASPAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1879398|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.516286;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9117867 rs906807 T C 100 PASS AC=179;AF=0.778954;AN=214;NS=2504;DP=17344;EAS_AF=0.7063;AMR_AF=0.8026;AFR_AF=0.7368;EUR_AF=0.831;SAS_AF=0.8405;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;1000g2015aug_all=0.778954;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs906807;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.354;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.63;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_converted_rankscore=0.429;FATHMM_pred=T;PROVEAN_score=1.21;PROVEAN_converted_rankscore=0.011;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.022;MetaSVM_score=-0.966;MetaSVM_rankscore=0.380;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.112;REVEL_rankscore=0.321;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.840;CADD_raw_rankscore=0.174;CADD_phred=9.708;DANN_score=0.821;DANN_rankscore=0.135;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_rankscore=0.089;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.908;Eigen-PC-raw=-0.635;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.731;integrated_fitCons_score_rankscore=0.878;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=1.585;phyloP100way_vertebrate_rankscore=0.360;phyloP20way_mammalian=0.040;phyloP20way_mammalian_rankscore=0.155;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.747;phastCons20way_mammalian_rankscore=0.321;SiPhy_29way_logOdds=11.855;SiPhy_29way_logOdds_rankscore=0.515;Interpro_domain=.;GTEx_V6p_gene=ENSG00000178127.8;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8194;ExAC_nontcga_ALL=0.7980;ExAC_nontcga_AFR=0.7583;ExAC_nontcga_AMR=0.7602;ExAC_nontcga_EAS=0.7076;ExAC_nontcga_FIN=0.7420;ExAC_nontcga_NFE=0.8135;ExAC_nontcga_OTH=0.7882;ExAC_nontcga_SAS=0.8605;AF=0.7854;AF_popmax=0.8148;AF_male=0.7881;AF_female=0.7821;AF_raw=0.7850;AF_afr=0.7571;AF_sas=.;AF_amr=0.7748;AF_eas=0.7477;AF_nfe=0.8148;AF_fin=0.7330;AF_asj=0.8966;AF_oth=0.7965;non_topmed_AF_popmax=0.8107;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8130;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000568994|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1251555|N/A|SMARCA4|PAZAR,OREG1221377|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.503277;ALLELE_END;VINYL_score=2.5 GT 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 9119489 rs41274300 A T 100 PASS AC=19;AF=0.0750799;AN=214;NS=2504;DP=17893;EAS_AF=0.002;AMR_AF=0.0634;AFR_AF=0.1536;EUR_AF=0.0915;SAS_AF=0.0358;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274300;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.0817;ExAC_nontcga_AFR=0.1578;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0363;ExAC_nontcga_NFE=0.1014;ExAC_nontcga_OTH=0.0710;ExAC_nontcga_SAS=0.0602;AF=0.1044;AF_popmax=0.1596;AF_male=0.1061;AF_female=0.1023;AF_raw=0.1045;AF_afr=0.1596;AF_sas=.;AF_amr=0.0675;AF_eas=0.0006;AF_nfe=0.1004;AF_fin=0.0423;AF_asj=0.1724;AF_oth=0.0783;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1586;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.705047;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41274300;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified|not_provided;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.0817;ExAC_nontcga_AFR=0.1578;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0363;ExAC_nontcga_NFE=0.1014;ExAC_nontcga_OTH=0.0710;ExAC_nontcga_SAS=0.0602;AF=0.1044;AF_popmax=0.1596;AF_male=0.1061;AF_female=0.1023;AF_raw=0.1045;AF_afr=0.1596;AF_sas=.;AF_amr=0.0675;AF_eas=0.0006;AF_nfe=0.1004;AF_fin=0.0423;AF_asj=0.1724;AF_oth=0.0783;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1586;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.705047;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +18 9124799 rs35039643 CT C 100 PASS AC=142;AF=0.630391;AN=214;NS=2504;DP=13167;EAS_AF=0.6657;AMR_AF=0.6585;AFR_AF=0.4834;EUR_AF=0.6759;SAS_AF=0.726;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.630391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35039643;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5308;AF_popmax=0.7032;AF_male=0.5319;AF_female=0.5296;AF_raw=0.5244;AF_afr=0.3743;AF_sas=.;AF_amr=0.5802;AF_eas=0.7032;AF_nfe=0.5877;AF_fin=0.5758;AF_asj=0.5885;AF_oth=0.6121;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.7032;non_cancer_AF_popmax=.;controls_AF_popmax=0.7009;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.637622;ALLELE_END;VINYL_score=-1 GT 1|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|0 0|1 1|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 0|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 0|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 +18 9124909 rs201708711 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12944;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon6:c.C507G:p.F169L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201708711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.155;MutationAssessor_score_rankscore=0.887;MutationAssessor_pred=M;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.880;PROVEAN_pred=D;VEST3_score=0.917;VEST3_rankscore=0.908;MetaSVM_score=-0.455;MetaSVM_rankscore=0.703;MetaSVM_pred=T;MetaLR_score=0.331;MetaLR_rankscore=0.699;MetaLR_pred=T;M-CAP_score=0.082;M-CAP_rankscore=0.740;M-CAP_pred=D;REVEL_score=0.495;REVEL_rankscore=0.783;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.683;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.338;Eigen-PC-raw=0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=1.691;phyloP100way_vertebrate_rankscore=0.371;phyloP20way_mammalian=0.039;phyloP20way_mammalian_rankscore=0.154;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.438;SiPhy_29way_logOdds_rankscore=0.376;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.892e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.198e-05;AF_popmax=6.5e-05;AF_male=0;AF_female=7.216e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.5e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.367e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.724504;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +18 9126856 rs149217248 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15795;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=NDUFV2:NM_021074:exon7:c.G607T:p.E203X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149217248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=14.347;CADD_raw_rankscore=0.996;CADD_phred=45;DANN_score=0.996;DANN_rankscore=0.750;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.664;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.953;Eigen-PC-raw=0.817;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=2.730;phyloP100way_vertebrate_rankscore=0.468;phyloP20way_mammalian=1.047;phyloP20way_mammalian_rankscore=0.674;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.734;SiPhy_29way_logOdds_rankscore=0.882;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.464e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.694918;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9134344 rs62088771 T C 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=18179;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62088771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0068;AF_popmax=0.0104;AF_male=0.0070;AF_female=0.0064;AF_raw=0.0067;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0.0006;AF_nfe=0.0104;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0108;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0016559;Kaviar_AC=256;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.248345;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 9134354 rs12454908 C G 100 PASS AC=19;AF=0.0754792;AN=214;NS=2504;DP=18598;EAS_AF=0.002;AMR_AF=0.0634;AFR_AF=0.1543;EUR_AF=0.0924;SAS_AF=0.0358;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NDUFV2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12454908;CLNALLELEID=353482;CLNDN=Mitochondrial_complex_I_deficiency;CLNDISDB=MedGen:C2936907,Orphanet:ORPHA2609;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1044;AF_popmax=0.1596;AF_male=0.1063;AF_female=0.1020;AF_raw=0.1044;AF_afr=0.1596;AF_sas=.;AF_amr=0.0662;AF_eas=0.0006;AF_nfe=0.1003;AF_fin=0.0426;AF_asj=0.1724;AF_oth=0.0781;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1557;non_cancer_AF_popmax=.;controls_AF_popmax=0.1580;Kaviar_AF=0.0194693;Kaviar_AC=3010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +18 19358240 rs45552034 G C 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=16842;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0298;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45552034;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0228;AF_popmax=0.0341;AF_male=0.0230;AF_female=0.0225;AF_raw=0.0228;AF_afr=0.0085;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0341;AF_fin=0.0200;AF_asj=0.0138;AF_oth=0.0248;non_topmed_AF_popmax=0.0322;non_neuro_AF_popmax=0.0344;non_cancer_AF_popmax=.;controls_AF_popmax=0.0294;Kaviar_AF=0.005595;Kaviar_AC=865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1580803|N/A|FOXA1|PAZAR,OREG1639411|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.156903;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19418264 rs141130227 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17560;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141130227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0006;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19423003 rs2276157 T C 100 PASS AC=20;AF=0.0872604;AN=214;NS=2504;DP=18739;EAS_AF=0.0298;AMR_AF=0.0778;AFR_AF=0.1566;EUR_AF=0.0736;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0850;AF_popmax=0.1260;AF_male=0.0872;AF_female=0.0823;AF_raw=0.0852;AF_afr=0.1260;AF_sas=.;AF_amr=0.0731;AF_eas=0.0276;AF_nfe=0.0748;AF_fin=0.0581;AF_asj=0.0862;AF_oth=0.0795;non_topmed_AF_popmax=0.1251;non_neuro_AF_popmax=0.1299;non_cancer_AF_popmax=.;controls_AF_popmax=0.1264;Kaviar_AF=0.0152973;Kaviar_AC=2365;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 19427096 rs11877131 A G 100 PASS AC=20;AF=0.0878594;AN=214;NS=2504;DP=17637;EAS_AF=0.0298;AMR_AF=0.0778;AFR_AF=0.1566;EUR_AF=0.0755;SAS_AF=0.0746;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11877131;CLNALLELEID=376706;CLNDN=Left_ventricular_noncompaction_7|not_specified;CLNDISDB=MedGen:C3554496,OMIM:615092|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0848;ExAC_nontcga_ALL=0.0845;ExAC_nontcga_AFR=0.1482;ExAC_nontcga_AMR=0.0413;ExAC_nontcga_EAS=0.0359;ExAC_nontcga_FIN=0.0694;ExAC_nontcga_NFE=0.0932;ExAC_nontcga_OTH=0.0836;ExAC_nontcga_SAS=0.0797;AF=0.0862;AF_popmax=0.1276;AF_male=0.0882;AF_female=0.0838;AF_raw=0.0863;AF_afr=0.1276;AF_sas=.;AF_amr=0.0731;AF_eas=0.0276;AF_nfe=0.0754;AF_fin=0.0614;AF_asj=0.0862;AF_oth=0.0821;non_topmed_AF_popmax=0.1267;non_neuro_AF_popmax=0.1301;non_cancer_AF_popmax=.;controls_AF_popmax=0.1262;Kaviar_AF=0.0780779;Kaviar_AC=12071;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.554109;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 19429173 rs146823897 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15580;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon17:c.C2410T:p.R804W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146823897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.544;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_converted_rankscore=0.377;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.817;VEST3_rankscore=0.805;MetaSVM_score=-1.024;MetaSVM_rankscore=0.226;MetaSVM_pred=T;MetaLR_score=0.082;MetaLR_rankscore=0.322;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.522;M-CAP_pred=D;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.064;CADD_raw_rankscore=0.940;CADD_phred=33;DANN_score=0.995;DANN_rankscore=0.659;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.831;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.097;Eigen-PC-raw=0.172;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.45;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=4.709;phyloP100way_vertebrate_rankscore=0.613;phyloP20way_mammalian=0.013;phyloP20way_mammalian_rankscore=0.140;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.262;SiPhy_29way_logOdds_rankscore=0.732;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.524e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.852e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.031782;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 19444661 rs76056004 A C 100 PASS AC=20;AF=0.0856629;AN=214;NS=2504;DP=17140;EAS_AF=0.0298;AMR_AF=0.0749;AFR_AF=0.1513;EUR_AF=0.0726;SAS_AF=0.0757;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MIB1;GeneDetail.refGene=NM_020774:c.*34A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0856629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76056004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0815;ExAC_nontcga_ALL=0.0737;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0382;ExAC_nontcga_EAS=0.0314;ExAC_nontcga_FIN=0.0620;ExAC_nontcga_NFE=0.0795;ExAC_nontcga_OTH=0.0737;ExAC_nontcga_SAS=0.0730;AF=0.0825;AF_popmax=0.1207;AF_male=0.0847;AF_female=0.0798;AF_raw=0.0827;AF_afr=0.1207;AF_sas=.;AF_amr=0.0733;AF_eas=0.0276;AF_nfe=0.0730;AF_fin=0.0570;AF_asj=0.0828;AF_oth=0.0796;non_topmed_AF_popmax=0.1198;non_neuro_AF_popmax=0.1243;non_cancer_AF_popmax=.;controls_AF_popmax=0.1226;Kaviar_AF=0.0740159;Kaviar_AC=11443;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256525|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.699221;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 +18 28647935 rs77431927 T A 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14292;EAS_AF=0.0169;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DSC2;GeneDetail.refGene=NM_024422:c.*46A>T\x3bNM_004949:c.*254A>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77431927;CLNALLELEID=341345;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0.0230;ExAC_nontcga_FIN=0.0078;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0031;AF=0.0041;AF_popmax=0.0160;AF_male=0.0042;AF_female=0.0040;AF_raw=0.0042;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0160;AF_nfe=0.0042;AF_fin=0.0078;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0164;non_neuro_AF_popmax=0.0160;non_cancer_AF_popmax=.;controls_AF_popmax=0.0164;Kaviar_AF=0.0039197;Kaviar_AC=606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28647996 rs555492553 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14745;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_024422:exon16:c.A2691G:p.A897A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555492553;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.436e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004683|hsa-miR-362-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.850691;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28647999 rs200056085 T TTC 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=14699;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.002;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DSC2:NM_024422:exon16:c.2687_2688insGA:p.E896fs;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200056085;CLNALLELEID=55351;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0082;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0032;AF=0.0102;AF_popmax=0.0169;AF_male=0.0097;AF_female=0.0107;AF_raw=0.0102;AF_afr=0.0011;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0101;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0172;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.850691;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28648200 rs1790682 C T 100 PASS AC=18;AF=0.0199681;AN=214;NS=2504;DP=16558;EAS_AF=0;AMR_AF=0.0476;AFR_AF=0.0008;EUR_AF=0.0547;SAS_AF=0.0112;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1790682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0607;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0090;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0181;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0101;AF=0.0353;AF_popmax=0.0586;AF_male=0.0345;AF_female=0.0362;AF_raw=0.0353;AF_afr=0.0084;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0586;AF_fin=0.0181;AF_asj=0.0276;AF_oth=0.0369;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0513;Kaviar_AF=0.0369788;Kaviar_AC=5717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659321;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1790682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0607;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0090;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0181;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0101;AF=0.0353;AF_popmax=0.0586;AF_male=0.0345;AF_female=0.0362;AF_raw=0.0353;AF_afr=0.0084;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0586;AF_fin=0.0181;AF_asj=0.0276;AF_oth=0.0369;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0513;Kaviar_AF=0.0369788;Kaviar_AC=5717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659321;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28648975 rs61731921 C T 100 PASS AC=9;AF=0.0275559;AN=214;NS=2504;DP=13872;EAS_AF=0.002;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0646;SAS_AF=0.0613;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.G2393A:p.R798Q,DSC2:NM_024422:exon15:c.G2393A:p.R798Q;1000g2015aug_all=0.0275559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731921;CLNALLELEID=44670;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.159;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.79;MutationAssessor_score_rankscore=0.196;MutationAssessor_pred=N;FATHMM_score=-1.79;FATHMM_converted_rankscore=0.838;FATHMM_pred=D;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.022;MetaSVM_score=-0.977;MetaSVM_rankscore=0.356;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.217;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.324;CADD_raw_rankscore=0.125;CADD_phred=5.922;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_rankscore=0.050;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.661;Eigen-PC-raw=-1.741;GenoCanyon_score=0.824;GenoCanyon_score_rankscore=0.246;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-5.21;GERP++_RS_rankscore=0.026;phyloP100way_vertebrate=-1.216;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.160;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=15.866;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0452;ExAC_nontcga_ALL=0.0505;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0157;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1191;ExAC_nontcga_NFE=0.0551;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0781;AF=0.0441;AF_popmax=0.0525;AF_male=0.0400;AF_female=0.0492;AF_raw=0.0441;AF_afr=0.0078;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0525;AF_fin=0.1193;AF_asj=0.0276;AF_oth=0.0667;non_topmed_AF_popmax=0.0565;non_neuro_AF_popmax=0.0511;non_cancer_AF_popmax=.;controls_AF_popmax=0.06;Kaviar_AF=0.0472762;Kaviar_AC=7309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.720223;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28649042 rs1893963 T C 100 PASS AC=15;AF=0.196486;AN=214;NS=2504;DP=16138;EAS_AF=0.0784;AMR_AF=0.1787;AFR_AF=0.472;EUR_AF=0.0994;SAS_AF=0.0583;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893963;CLNALLELEID=55343;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.155;LRT_converted_rankscore=0.178;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.8;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=0.18;PROVEAN_converted_rankscore=0.054;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.001;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.683;CADD_raw_rankscore=0.013;CADD_phred=0.002;DANN_score=0.586;DANN_rankscore=0.059;fathmm-MKL_coding_score=0.002;fathmm-MKL_coding_rankscore=0.013;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.549;Eigen-PC-raw=-1.360;GenoCanyon_score=0.354;GenoCanyon_score_rankscore=0.197;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.69;GERP++_RS_rankscore=0.413;phyloP100way_vertebrate=0.060;phyloP100way_vertebrate_rankscore=0.141;phyloP20way_mammalian=-0.324;phyloP20way_mammalian_rankscore=0.076;phastCons100way_vertebrate=0.018;phastCons100way_vertebrate_rankscore=0.193;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=10.511;SiPhy_29way_logOdds_rankscore=0.439;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134762.12;GTEx_V6p_tissue=Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0837;ExAC_nontcga_ALL=0.1193;ExAC_nontcga_AFR=0.4226;ExAC_nontcga_AMR=0.1789;ExAC_nontcga_EAS=0.0987;ExAC_nontcga_FIN=0.0593;ExAC_nontcga_NFE=0.0834;ExAC_nontcga_OTH=0.0951;ExAC_nontcga_SAS=0.0652;AF=0.1705;AF_popmax=0.3996;AF_male=0.1788;AF_female=0.1600;AF_raw=0.1708;AF_afr=0.3996;AF_sas=.;AF_amr=0.1604;AF_eas=0.1012;AF_nfe=0.0801;AF_fin=0.0578;AF_asj=0.1103;AF_oth=0.1037;non_topmed_AF_popmax=0.4004;non_neuro_AF_popmax=0.3885;non_cancer_AF_popmax=.;controls_AF_popmax=0.4003;Kaviar_AF=0.118148;Kaviar_AC=18266;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0017982|hsa-miR-3605-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0004601|hsa-miR-145-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.813745;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +18 28649144 rs151289743 G T 100 PASS AC=2;AF=0.00579073;AN=214;NS=2504;DP=19909;EAS_AF=0.002;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151289743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0132;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0199;ExAC_nontcga_NFE=0.0187;ExAC_nontcga_OTH=0.0203;ExAC_nontcga_SAS=0.0085;AF=0.0148;AF_popmax=0.0232;AF_male=0.0138;AF_female=0.0159;AF_raw=0.0148;AF_afr=0.0025;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0232;AF_fin=0.0184;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0241;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.025;Kaviar_AF=0.0138873;Kaviar_AC=2147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28649166 rs1893962 A G 100 PASS AC=10;AF=0.0611022;AN=214;NS=2504;DP=20217;EAS_AF=0.0774;AMR_AF=0.1153;AFR_AF=0.0424;EUR_AF=0.0616;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893962;CLNALLELEID=256647;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0498;ExAC_nontcga_ALL=0.0642;ExAC_nontcga_AFR=0.0426;ExAC_nontcga_AMR=0.1536;ExAC_nontcga_EAS=0.0980;ExAC_nontcga_FIN=0.0370;ExAC_nontcga_NFE=0.0553;ExAC_nontcga_OTH=0.0512;ExAC_nontcga_SAS=0.0394;AF=0.0499;AF_popmax=0.1191;AF_male=0.0526;AF_female=0.0465;AF_raw=0.0499;AF_afr=0.0418;AF_sas=.;AF_amr=0.1191;AF_eas=0.1021;AF_nfe=0.0486;AF_fin=0.0354;AF_asj=0.0586;AF_oth=0.0478;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1021;non_cancer_AF_popmax=.;controls_AF_popmax=0.1007;Kaviar_AF=0.0619397;Kaviar_AC=9576;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.810692;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +18 28650748 rs151024019 A C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16161;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon14:c.T2194G:p.L732V,DSC2:NM_024422:exon14:c.T2194G:p.L732V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151024019;CLNALLELEID=44669;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.896;SIFT_converted_rankscore=0.024;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_converted_rankscore=0.265;LRT_pred=N;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.244;MutationTaster_pred=N;MutationAssessor_score=1.25;MutationAssessor_score_rankscore=0.319;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_converted_rankscore=0.202;PROVEAN_pred=N;VEST3_score=0.632;VEST3_rankscore=0.650;MetaSVM_score=-0.941;MetaSVM_rankscore=0.425;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.301;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.412;M-CAP_pred=T;REVEL_score=0.257;REVEL_rankscore=0.573;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.742;CADD_raw_rankscore=0.165;CADD_phred=9.099;DANN_score=0.682;DANN_rankscore=0.083;fathmm-MKL_coding_score=0.567;fathmm-MKL_coding_rankscore=0.299;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.755;Eigen-PC-raw=-0.672;GenoCanyon_score=0.652;GenoCanyon_score_rankscore=0.222;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-4.8;GERP++_RS_rankscore=0.029;phyloP100way_vertebrate=0.170;phyloP100way_vertebrate_rankscore=0.164;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.763;phastCons100way_vertebrate_rankscore=0.290;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.437;SiPhy_29way_logOdds_rankscore=0.157;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0024;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012678;Kaviar_AC=196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944164;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28654750 rs148185335 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=16267;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon12:c.C1787T:p.A596V,DSC2:NM_024422:exon12:c.C1787T:p.A596V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148185335;CLNALLELEID=55336;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.545;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.221;Polyphen2_HVAR_rankscore=0.408;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.46;MutationAssessor_score_rankscore=0.925;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.84;VEST3_rankscore=0.827;MetaSVM_score=-0.140;MetaSVM_rankscore=0.792;MetaSVM_pred=T;MetaLR_score=0.354;MetaLR_rankscore=0.718;MetaLR_pred=T;M-CAP_score=0.080;M-CAP_rankscore=0.734;M-CAP_pred=D;REVEL_score=0.427;REVEL_rankscore=0.738;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.177;CADD_raw_rankscore=0.560;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.860;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.649;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.413;Eigen-PC-raw=0.385;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=5.438;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.060;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=16.176;SiPhy_29way_logOdds_rankscore=0.816;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0030;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0011578;Kaviar_AC=179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0003339|hsa-miR-421|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.717268;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28660379 rs572632888 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22775;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572632888;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28666526 rs35717505 T TTAA 100 PASS AC=214;AF=0.996006;AN=214;NS=2504;DP=19674;EAS_AF=1;AMR_AF=1;AFR_AF=0.9849;EUR_AF=1;SAS_AF=1;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35717505;CLNALLELEID=55368;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9992;ExAC_nontcga_AFR=0.9913;ExAC_nontcga_AMR=0.9997;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9980;AF_popmax=1;AF_male=0.9982;AF_female=0.9977;AF_raw=0.9979;AF_afr=0.9928;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0292752;Kaviar_AC=4526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.856104;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +18 28666646 rs193922708 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon7:c.C835T:p.R279C,DSC2:NM_024422:exon7:c.C835T:p.R279C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193922708;CLNALLELEID=44671;CLNDN=Cardiomyopathy|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.969;Polyphen2_HVAR_rankscore=0.703;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.99;MutationAssessor_score_rankscore=0.860;MutationAssessor_pred=M;FATHMM_score=0.54;FATHMM_converted_rankscore=0.549;FATHMM_pred=T;PROVEAN_score=-5.29;PROVEAN_converted_rankscore=0.843;PROVEAN_pred=D;VEST3_score=0.586;VEST3_rankscore=0.614;MetaSVM_score=-0.491;MetaSVM_rankscore=0.690;MetaSVM_pred=T;MetaLR_score=0.402;MetaLR_rankscore=0.753;MetaLR_pred=T;M-CAP_score=0.393;M-CAP_rankscore=0.932;M-CAP_pred=D;REVEL_score=0.670;REVEL_rankscore=0.879;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.339;CADD_raw_rankscore=0.723;CADD_phred=25.8;DANN_score=0.999;DANN_rankscore=0.960;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_rankscore=0.155;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.232;Eigen-PC-raw=0.008;GenoCanyon_score=0.738;GenoCanyon_score_rankscore=0.231;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=1.691;phyloP100way_vertebrate_rankscore=0.371;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.012;phastCons100way_vertebrate_rankscore=0.185;phastCons20way_mammalian=0.574;phastCons20way_mammalian_rankscore=0.284;SiPhy_29way_logOdds=12.102;SiPhy_29way_logOdds_rankscore=0.529;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=7.54e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.366e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.782558;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28669387 rs201596999 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14487;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201596999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.065063;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28669470 rs146754448 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14033;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon5:c.G562T:p.V188L,DSC2:NM_024422:exon5:c.G562T:p.V188L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146754448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.184;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.095;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.757;LRT_converted_rankscore=0.096;LRT_pred=N;MutationTaster_score=0.547;MutationTaster_converted_rankscore=0.321;MutationTaster_pred=D;MutationAssessor_score=0.855;MutationAssessor_score_rankscore=0.214;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_converted_rankscore=0.216;PROVEAN_pred=N;VEST3_score=0.308;VEST3_rankscore=0.369;MetaSVM_score=-0.885;MetaSVM_rankscore=0.494;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_rankscore=0.388;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.982;CADD_raw_rankscore=0.419;CADD_phred=22.2;DANN_score=0.990;DANN_rankscore=0.505;fathmm-MKL_coding_score=0.558;fathmm-MKL_coding_rankscore=0.297;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.257;Eigen-PC-raw=-0.097;GenoCanyon_score=0.277;GenoCanyon_score_rankscore=0.190;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.04;GERP++_RS_rankscore=0.340;phyloP100way_vertebrate=0.600;phyloP100way_vertebrate_rankscore=0.236;phyloP20way_mammalian=0.876;phyloP20way_mammalian_rankscore=0.383;phastCons100way_vertebrate=0.961;phastCons100way_vertebrate_rankscore=0.334;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=5.774;SiPhy_29way_logOdds_rankscore=0.174;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933617;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 28670946 rs149188953 G C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=18946;EAS_AF=0.002;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149188953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0050;AF=0.0101;AF_popmax=0.0169;AF_male=0.0099;AF_female=0.0104;AF_raw=0.0101;AF_afr=0.0013;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0095;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0181;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0219;Kaviar_AF=0.0086868;Kaviar_AC=1343;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.264198;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28671068 rs200218585 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18150;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon4:c.G397A:p.A133T,DSC2:NM_024422:exon4:c.G397A:p.A133T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200218585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.356;SIFT_converted_rankscore=0.120;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.170;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.321;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=1.295;MutationAssessor_score_rankscore=0.326;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.176;VEST3_rankscore=0.214;MetaSVM_score=-1.039;MetaSVM_rankscore=0.175;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.377;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.510;M-CAP_pred=D;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.476;CADD_raw_rankscore=0.140;CADD_phred=7.243;DANN_score=0.785;DANN_rankscore=0.119;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.268;Eigen-PC-raw=-1.269;GenoCanyon_score=0.786;GenoCanyon_score_rankscore=0.239;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-0.722;GERP++_RS_rankscore=0.106;phyloP100way_vertebrate=-0.267;phyloP100way_vertebrate_rankscore=0.086;phyloP20way_mammalian=-1.181;phyloP20way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.054;phastCons20way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=6.171;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=Cadherin-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.605e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.027e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.582e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.371e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=7.183e-05;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.837421;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28671130 rs565437248 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18467;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565437248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.768e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.923e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.249109;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28672067 rs117812913 T C 100 PASS AC=3;AF=0.00379393;AN=214;NS=2504;DP=14523;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon3:c.A351G:p.T117T,DSC2:NM_024422:exon3:c.A351G:p.T117T;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117812913;CLNALLELEID=55353;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0117;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0187;ExAC_nontcga_NFE=0.0127;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0025;AF=0.0101;AF_popmax=0.0152;AF_male=0.0093;AF_female=0.0112;AF_raw=0.0101;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0152;AF_fin=0.0164;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0152;non_cancer_AF_popmax=.;controls_AF_popmax=0.0217;Kaviar_AF=0.0087386;Kaviar_AC=1351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904930;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 28673565 rs12954874 T C 100 PASS AC=25;AF=0.123602;AN=214;NS=2504;DP=13763;EAS_AF=0.1399;AMR_AF=0.1643;AFR_AF=0.084;EUR_AF=0.1014;SAS_AF=0.1544;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L;1000g2015aug_all=0.123602;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12954874;CLNALLELEID=55328;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1210;ExAC_nontcga_ALL=0.1115;ExAC_nontcga_AFR=0.0827;ExAC_nontcga_AMR=0.1657;ExAC_nontcga_EAS=0.1306;ExAC_nontcga_FIN=0.0425;ExAC_nontcga_NFE=0.1084;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.1207;AF=0.0992;AF_popmax=0.1487;AF_male=0.0970;AF_female=0.1019;AF_raw=0.0995;AF_afr=0.0822;AF_sas=.;AF_amr=0.1487;AF_eas=0.1161;AF_nfe=0.1166;AF_fin=0.0374;AF_asj=0.1552;AF_oth=0.1074;non_topmed_AF_popmax=0.1508;non_neuro_AF_popmax=0.1562;non_cancer_AF_popmax=.;controls_AF_popmax=0.1398;Kaviar_AF=0.113071;Kaviar_AC=17481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531283;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 +18 29078121 rs149048465 G C 100 PASS AC=1;AF=0.00738818;AN=214;NS=2504;DP=7448;EAS_AF=0.0298;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSG2;GeneDetail.refGene=NM_001943:c.-94G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149048465;CLNALLELEID=348176;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0061;AF_popmax=0.0495;AF_male=0.0066;AF_female=0.0054;AF_raw=0.0061;AF_afr=0.0003;AF_sas=.;AF_amr=0.0073;AF_eas=0.0495;AF_nfe=0.0042;AF_fin=0.0076;AF_asj=0.0070;AF_oth=0.0093;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0495;non_cancer_AF_popmax=.;controls_AF_popmax=0.0514;Kaviar_AF=0.0041494;Kaviar_AC=108;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000101963|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.573500;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29078160 rs551539015 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=7880;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSG2;GeneDetail.refGene=NM_001943:c.-55G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551539015;CLNALLELEID=348180;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0015;AF_popmax=0.0027;AF_male=0.0017;AF_female=0.0014;AF_raw=0.0015;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0027;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0074535;Kaviar_AC=194;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000101963|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.775761;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29078333 rs537762282 C G 100 PASS AC=7;AF=0.0189696;AN=214;NS=2504;DP=10494;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0371;EUR_AF=0.0268;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537762282;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0216;AF_popmax=0.0353;AF_male=0.0205;AF_female=0.0229;AF_raw=0.0217;AF_afr=0.0353;AF_sas=.;AF_amr=0.0190;AF_eas=0.0013;AF_nfe=0.0166;AF_fin=0.0182;AF_asj=0.0207;AF_oth=0.0241;non_topmed_AF_popmax=0.0355;non_neuro_AF_popmax=0.0374;non_cancer_AF_popmax=.;controls_AF_popmax=0.0376;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000101963|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.189136;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098253 rs529231700 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19275;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529231700;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.937025;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098254 rs547399759 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19227;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547399759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.937025;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29098323 rs2276149 G A 100 PASS AC=73;AF=0.369209;AN=214;NS=2504;DP=17295;EAS_AF=0.3294;AMR_AF=0.3372;AFR_AF=0.4546;EUR_AF=0.3777;SAS_AF=0.3088;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.369209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276149;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3994;AF_popmax=0.4326;AF_male=0.4005;AF_female=0.3981;AF_raw=0.3993;AF_afr=0.4326;AF_sas=.;AF_amr=0.3960;AF_eas=0.3206;AF_nfe=0.3890;AF_fin=0.4106;AF_asj=0.3427;AF_oth=0.3766;non_topmed_AF_popmax=0.4328;non_neuro_AF_popmax=0.4407;non_cancer_AF_popmax=.;controls_AF_popmax=0.4458;Kaviar_AF=0.0734855;Kaviar_AC=11361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669675;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29098345 rs9807377 C T 100 PASS AC=43;AF=0.219848;AN=214;NS=2504;DP=17699;EAS_AF=0.2867;AMR_AF=0.2738;AFR_AF=0.0946;EUR_AF=0.2694;SAS_AF=0.2311;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.219848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9807377;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2424;AF_popmax=0.3187;AF_male=0.2401;AF_female=0.2454;AF_raw=0.2422;AF_afr=0.1316;AF_sas=.;AF_amr=0.3187;AF_eas=0.2913;AF_nfe=0.2725;AF_fin=0.3411;AF_asj=0.1979;AF_oth=0.2698;non_topmed_AF_popmax=0.3238;non_neuro_AF_popmax=0.32;non_cancer_AF_popmax=.;controls_AF_popmax=0.3049;Kaviar_AF=0.0511766;Kaviar_AC=7912;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.295206;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29099850 rs121913013 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16402;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon3:c.G166A:p.V56M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121913013;CLNALLELEID=31857;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_risk_factor;SIFT_score=0.012;SIFT_converted_rankscore=0.546;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.788;Polyphen2_HVAR_rankscore=0.558;Polyphen2_HVAR_pred=P;LRT_score=0.059;LRT_converted_rankscore=0.224;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=A;MutationAssessor_score=1.47;MutationAssessor_score_rankscore=0.371;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST3_score=0.81;VEST3_rankscore=0.801;MetaSVM_score=-0.778;MetaSVM_rankscore=0.564;MetaSVM_pred=T;MetaLR_score=0.245;MetaLR_rankscore=0.614;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.774;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.962;DANN_rankscore=0.284;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.389;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.21;GERP++_RS_rankscore=0.719;phyloP100way_vertebrate=6.623;phyloP100way_vertebrate_rankscore=0.739;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.766;phastCons20way_mammalian_rankscore=0.326;SiPhy_29way_logOdds=17.299;SiPhy_29way_logOdds_rankscore=0.870;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0015;AF_popmax=0.0021;AF_male=0.0017;AF_female=0.0012;AF_raw=0.0015;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0021;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.897715;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29101010 rs150251421 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16545;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150251421;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.253135;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29101230 rs55657337 T A 100 PASS AC=31;AF=0.141374;AN=214;NS=2504;DP=14059;EAS_AF=0.0446;AMR_AF=0.062;AFR_AF=0.3321;EUR_AF=0.1083;SAS_AF=0.0736;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.141374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55657337;CLNALLELEID=186570;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0699;ExAC_nontcga_ALL=0.1021;ExAC_nontcga_AFR=0.2665;ExAC_nontcga_AMR=0.0521;ExAC_nontcga_EAS=0.0401;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.1141;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.0682;AF=0.1467;AF_popmax=0.2756;AF_male=0.1503;AF_female=0.1421;AF_raw=0.1469;AF_afr=0.2756;AF_sas=.;AF_amr=0.0775;AF_eas=0.0297;AF_nfe=0.1115;AF_fin=0.0598;AF_asj=0.1434;AF_oth=0.0990;non_topmed_AF_popmax=0.2764;non_neuro_AF_popmax=0.2831;non_cancer_AF_popmax=.;controls_AF_popmax=0.2913;Kaviar_AF=0.0143012;Kaviar_AC=2211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29104564 rs3737378 C A 100 PASS AC=44;AF=0.211462;AN=214;NS=2504;DP=17687;EAS_AF=0.2847;AMR_AF=0.2536;AFR_AF=0.0779;EUR_AF=0.2664;SAS_AF=0.2301;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211462;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3737378;CLNALLELEID=256649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2609;ExAC_nontcga_ALL=0.2512;ExAC_nontcga_AFR=0.1128;ExAC_nontcga_AMR=0.2942;ExAC_nontcga_EAS=0.2975;ExAC_nontcga_FIN=0.3388;ExAC_nontcga_NFE=0.2530;ExAC_nontcga_OTH=0.2669;ExAC_nontcga_SAS=0.2272;AF=0.2348;AF_popmax=0.3208;AF_male=0.2320;AF_female=0.2384;AF_raw=0.2348;AF_afr=0.1208;AF_sas=.;AF_amr=0.3208;AF_eas=0.2889;AF_nfe=0.265;AF_fin=0.3371;AF_asj=0.1931;AF_oth=0.2606;non_topmed_AF_popmax=0.3259;non_neuro_AF_popmax=0.3177;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.244977;Kaviar_AC=37874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.102655;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29104632 rs201953902 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18096;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201953902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.948e-05;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=8.98e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.648853;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29104698 rs2230233 C T 100 PASS AC=74;AF=0.526558;AN=214;NS=2504;DP=19611;EAS_AF=0.502;AMR_AF=0.415;AFR_AF=0.8578;EUR_AF=0.3757;SAS_AF=0.3384;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;1000g2015aug_all=0.526558;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230233;CLNALLELEID=53496;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3787;ExAC_nontcga_ALL=0.4110;ExAC_nontcga_AFR=0.8024;ExAC_nontcga_AMR=0.4023;ExAC_nontcga_EAS=0.4885;ExAC_nontcga_FIN=0.4107;ExAC_nontcga_NFE=0.3679;ExAC_nontcga_OTH=0.3696;ExAC_nontcga_SAS=0.3223;AF=0.5048;AF_popmax=0.7913;AF_male=0.5088;AF_female=0.4999;AF_raw=0.5044;AF_afr=0.7913;AF_sas=.;AF_amr=0.4504;AF_eas=0.4942;AF_nfe=0.3800;AF_fin=0.4039;AF_asj=0.3517;AF_oth=0.3987;non_topmed_AF_popmax=0.7918;non_neuro_AF_popmax=0.8003;non_cancer_AF_popmax=.;controls_AF_popmax=0.7983;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.858351;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|1 0|0 +18 29104714 rs2230234 A G 100 PASS AC=23;AF=0.0323482;AN=214;NS=2504;DP=19637;EAS_AF=0.001;AMR_AF=0.036;AFR_AF=0.003;EUR_AF=0.0954;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.A877G:p.I293V;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2230234;CLNALLELEID=53498;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.073;MutationTaster_converted_rankscore=0.368;MutationTaster_pred=P;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_converted_rankscore=0.421;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.081;MetaSVM_score=-1.048;MetaSVM_rankscore=0.149;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.997;CADD_raw_rankscore=0.537;CADD_phred=23.6;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_rankscore=0.583;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.274;Eigen-PC-raw=0.257;GenoCanyon_score=0.960;GenoCanyon_score_rankscore=0.284;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=2.196;phyloP100way_vertebrate_rankscore=0.421;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=12.080;SiPhy_29way_logOdds_rankscore=0.528;Interpro_domain=Cadherin|Cadherin-like;GTEx_V6p_gene=ENSG00000266521.1;GTEx_V6p_tissue=Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.0680;ExAC_nontcga_AFR=0.0142;ExAC_nontcga_AMR=0.0399;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1450;ExAC_nontcga_NFE=0.0895;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.0433;AF=0.0717;AF_popmax=0.0937;AF_male=0.0683;AF_female=0.0759;AF_raw=0.0717;AF_afr=0.0115;AF_sas=.;AF_amr=0.0578;AF_eas=0.0006;AF_nfe=0.0937;AF_fin=0.1545;AF_asj=0.0897;AF_oth=0.0847;non_topmed_AF_popmax=0.0966;non_neuro_AF_popmax=0.0934;non_cancer_AF_popmax=.;controls_AF_popmax=0.1036;Kaviar_AF=0.0683626;Kaviar_AC=10569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.893970;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +18 29104878 rs62095194 G A 100 PASS AC=44;AF=0.216254;AN=214;NS=2504;DP=19416;EAS_AF=0.2847;AMR_AF=0.2608;AFR_AF=0.0908;EUR_AF=0.2664;SAS_AF=0.2321;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62095194;CLNALLELEID=256650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2614;ExAC_nontcga_ALL=0.2542;ExAC_nontcga_AFR=0.1248;ExAC_nontcga_AMR=0.2983;ExAC_nontcga_EAS=0.2991;ExAC_nontcga_FIN=0.3400;ExAC_nontcga_NFE=0.2558;ExAC_nontcga_OTH=0.2718;ExAC_nontcga_SAS=0.2285;AF=0.2380;AF_popmax=0.3199;AF_male=0.2354;AF_female=0.2412;AF_raw=0.2382;AF_afr=0.1305;AF_sas=.;AF_amr=0.3199;AF_eas=0.2875;AF_nfe=0.2658;AF_fin=0.3377;AF_asj=0.1931;AF_oth=0.2624;non_topmed_AF_popmax=0.3251;non_neuro_AF_popmax=0.3164;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.247856;Kaviar_AC=38319;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.570463;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29116462 rs2276150 T C 100 PASS AC=33;AF=0.14357;AN=214;NS=2504;DP=19047;EAS_AF=0.0437;AMR_AF=0.0692;AFR_AF=0.3328;EUR_AF=0.1103;SAS_AF=0.0777;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2276150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1545;AF_popmax=0.2926;AF_male=0.1571;AF_female=0.1512;AF_raw=0.1547;AF_afr=0.2926;AF_sas=.;AF_amr=0.0849;AF_eas=0.0295;AF_nfe=0.1162;AF_fin=0.0671;AF_asj=0.1483;AF_oth=0.1075;non_topmed_AF_popmax=0.2937;non_neuro_AF_popmax=0.2951;non_cancer_AF_popmax=.;controls_AF_popmax=0.3008;Kaviar_AF=0.0221407;Kaviar_AC=3423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.719724;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29122618 rs79241126 G A 100 PASS AC=14;AF=0.0259585;AN=214;NS=2504;DP=20214;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.0015;EUR_AF=0.0885;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2137A:p.E713K;1000g2015aug_all=0.0259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79241126;CLNALLELEID=53462;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.109;SIFT_converted_rankscore=0.292;SIFT_pred=T;Polyphen2_HDIV_score=0.913;Polyphen2_HDIV_rankscore=0.485;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_converted_rankscore=0.231;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.21;FATHMM_converted_rankscore=0.600;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.283;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.129;MetaSVM_score=-1.097;MetaSVM_rankscore=0.044;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.194;CADD_raw_rankscore=0.209;CADD_phred=11.71;DANN_score=0.979;DANN_rankscore=0.362;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.099;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.428;Eigen-PC-raw=-0.485;GenoCanyon_score=0.881;GenoCanyon_score_rankscore=0.256;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=3.21;GERP++_RS_rankscore=0.358;phyloP100way_vertebrate=0.591;phyloP100way_vertebrate_rankscore=0.235;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.146;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=7.777;SiPhy_29way_logOdds_rankscore=0.280;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0777;ExAC_nontcga_ALL=0.0494;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.0263;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0953;ExAC_nontcga_NFE=0.0723;ExAC_nontcga_OTH=0.0551;ExAC_nontcga_SAS=0.0136;AF=0.0603;AF_popmax=0.0845;AF_male=0.0576;AF_female=0.0638;AF_raw=0.0604;AF_afr=0.0138;AF_sas=.;AF_amr=0.0426;AF_eas=0;AF_nfe=0.0845;AF_fin=0.1007;AF_asj=0.0590;AF_oth=0.0618;non_topmed_AF_popmax=0.0885;non_neuro_AF_popmax=0.0832;non_cancer_AF_popmax=.;controls_AF_popmax=0.0935;Kaviar_AF=0.0534728;Kaviar_AC=8267;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.730255;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +18 29122799 rs2278792 G A 100 PASS AC=41;AF=0.240016;AN=214;NS=2504;DP=17143;EAS_AF=0.4643;AMR_AF=0.2536;AFR_AF=0.0333;EUR_AF=0.2624;SAS_AF=0.2556;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2318A:p.R773K;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278792;CLNALLELEID=53467;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.383;SIFT_converted_rankscore=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_rankscore=0.198;Polyphen2_HVAR_pred=B;LRT_score=0.270;LRT_converted_rankscore=0.151;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=2.135;MutationAssessor_score_rankscore=0.597;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_converted_rankscore=0.129;PROVEAN_pred=N;VEST3_score=0.024;VEST3_rankscore=0.007;MetaSVM_score=-0.946;MetaSVM_rankscore=0.417;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.152;CADD_raw_rankscore=0.320;CADD_phred=17.19;DANN_score=0.940;DANN_rankscore=0.235;fathmm-MKL_coding_score=0.805;fathmm-MKL_coding_rankscore=0.398;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.690;Eigen-PC-raw=-0.554;GenoCanyon_score=0.836;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.2;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=1.828;phyloP100way_vertebrate_rankscore=0.385;phyloP20way_mammalian=0.133;phyloP20way_mammalian_rankscore=0.217;phastCons100way_vertebrate=0.924;phastCons100way_vertebrate_rankscore=0.318;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=10.588;SiPhy_29way_logOdds_rankscore=0.443;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2540;ExAC_nontcga_ALL=0.2692;ExAC_nontcga_AFR=0.0708;ExAC_nontcga_AMR=0.2941;ExAC_nontcga_EAS=0.4769;ExAC_nontcga_FIN=0.3425;ExAC_nontcga_NFE=0.2549;ExAC_nontcga_OTH=0.2780;ExAC_nontcga_SAS=0.2712;AF=0.2286;AF_popmax=0.4429;AF_male=0.2271;AF_female=0.2305;AF_raw=0.2293;AF_afr=0.0777;AF_sas=.;AF_amr=0.3101;AF_eas=0.4429;AF_nfe=0.2606;AF_fin=0.3417;AF_asj=0.1923;AF_oth=0.2547;non_topmed_AF_popmax=0.4406;non_neuro_AF_popmax=0.4429;non_cancer_AF_popmax=.;controls_AF_popmax=0.4330;Kaviar_AF=0.256601;Kaviar_AC=39671;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929106;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29125854 rs1042769 A G 100 PASS AC=29;AF=0.197484;AN=214;NS=2504;DP=16684;EAS_AF=0.2222;AMR_AF=0.1383;AFR_AF=0.3661;EUR_AF=0.1004;SAS_AF=0.0859;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;1000g2015aug_all=0.197484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1042769;CLNALLELEID=53469;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1076;ExAC_nontcga_ALL=0.1279;ExAC_nontcga_AFR=0.3562;ExAC_nontcga_AMR=0.1225;ExAC_nontcga_EAS=0.1898;ExAC_nontcga_FIN=0.0714;ExAC_nontcga_NFE=0.1085;ExAC_nontcga_OTH=0.0812;ExAC_nontcga_SAS=0.0736;AF=0.1765;AF_popmax=0.3496;AF_male=0.1819;AF_female=0.1698;AF_raw=0.1770;AF_afr=0.3496;AF_sas=.;AF_amr=0.1220;AF_eas=0.2046;AF_nfe=0.1089;AF_fin=0.0662;AF_asj=0.1517;AF_oth=0.1160;non_topmed_AF_popmax=0.3510;non_neuro_AF_popmax=0.3509;non_cancer_AF_popmax=.;controls_AF_popmax=0.3502;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.924682;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29126108 rs142841727 T G 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=21083;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T2759G:p.V920G;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142841727;CLNALLELEID=53474;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_converted_rankscore=0.421;SIFT_pred=D;Polyphen2_HDIV_score=0.666;Polyphen2_HDIV_rankscore=0.391;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_rankscore=0.327;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_converted_rankscore=0.243;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-1.13;FATHMM_converted_rankscore=0.777;FATHMM_pred=T;PROVEAN_score=-1.46;PROVEAN_converted_rankscore=0.358;PROVEAN_pred=N;VEST3_score=0.812;VEST3_rankscore=0.807;MetaSVM_score=-0.901;MetaSVM_rankscore=0.479;MetaSVM_pred=T;MetaLR_score=0.178;MetaLR_rankscore=0.523;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.522;REVEL_rankscore=0.800;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.890;CADD_raw_rankscore=0.524;CADD_phred=23.5;DANN_score=0.896;DANN_rankscore=0.184;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.699;Eigen-PC-raw=-0.750;GenoCanyon_score=0.802;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.5;GERP++_RS_rankscore=0.292;phyloP100way_vertebrate=0.145;phyloP100way_vertebrate_rankscore=0.159;phyloP20way_mammalian=0.084;phyloP20way_mammalian_rankscore=0.191;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.588;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=6.805;SiPhy_29way_logOdds_rankscore=0.228;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0050;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0003;AF=0.0031;AF_popmax=0.0083;AF_male=0.0038;AF_female=0.0023;AF_raw=0.0031;AF_afr=0.0022;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805216;ALLELE_END;VINYL_score=7 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +18 29126592 rs11542379 C T 100 PASS AC=1;AF=0.0103834;AN=214;NS=2504;DP=19584;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0287;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.C3243T:p.V1081V;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11542379;CLNALLELEID=53479;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0258;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0002;AF=0.0091;AF_popmax=0.0230;AF_male=0.0088;AF_female=0.0096;AF_raw=0.0091;AF_afr=0.0230;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0230;non_cancer_AF_popmax=.;controls_AF_popmax=0.0257;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000690|hsa-miR-296-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.707654;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 29126670 rs1791235 T C 100 PASS AC=74;AF=0.542931;AN=214;NS=2504;DP=21123;EAS_AF=0.7361;AMR_AF=0.428;AFR_AF=0.7315;EUR_AF=0.3748;SAS_AF=0.3436;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;1000g2015aug_all=0.542931;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1791235;CLNALLELEID=53482;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3777;ExAC_nontcga_ALL=0.4238;ExAC_nontcga_AFR=0.6972;ExAC_nontcga_AMR=0.4370;ExAC_nontcga_EAS=0.7061;ExAC_nontcga_FIN=0.4153;ExAC_nontcga_NFE=0.3694;ExAC_nontcga_OTH=0.3725;ExAC_nontcga_SAS=0.3245;AF=0.4888;AF_popmax=0.6981;AF_male=0.4934;AF_female=0.4831;AF_raw=0.4886;AF_afr=0.6909;AF_sas=.;AF_amr=0.4776;AF_eas=0.6981;AF_nfe=0.3816;AF_fin=0.4073;AF_asj=0.3517;AF_oth=0.3996;non_topmed_AF_popmax=0.6971;non_neuro_AF_popmax=0.6981;non_cancer_AF_popmax=.;controls_AF_popmax=0.6934;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.903203;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|1 0|0 +18 29171787 rs538940182 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18098;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TTR;GeneDetail.refGene=NM_000371:c.-79C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538940182;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001016941|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1631307|N/A|FOXA1|PAZAR,OREG1572593|N/A|FOXA1|PAZAR,OREG1167690|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855012;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +18 29172865 rs1800458 G A 100 PASS AC=9;AF=0.0233626;AN=214;NS=2504;DP=20339;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0015;EUR_AF=0.0785;SAS_AF=0.0092;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon2:c.G76A:p.G26S;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800458;CLNALLELEID=28491;CLNDN=TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=.|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=-3.64;FATHMM_converted_rankscore=0.951;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_converted_rankscore=0.057;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.103;MetaSVM_score=-0.841;MetaSVM_rankscore=0.526;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.088;CADD_raw_rankscore=0.086;CADD_phred=1.822;DANN_score=0.328;DANN_rankscore=0.019;fathmm-MKL_coding_score=0.253;fathmm-MKL_coding_rankscore=0.225;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.935;Eigen-PC-raw=-0.889;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=1.391;phyloP100way_vertebrate_rankscore=0.339;phyloP20way_mammalian=0.096;phyloP20way_mammalian_rankscore=0.197;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.012;phastCons20way_mammalian_rankscore=0.117;SiPhy_29way_logOdds=8.142;SiPhy_29way_logOdds_rankscore=0.301;Interpro_domain=Transthyretin/hydroxyisourate_hydrolase,_superfamily;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0474;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0227;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0939;ExAC_nontcga_NFE=0.0698;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0131;AF=0.0585;AF_popmax=0.0818;AF_male=0.0560;AF_female=0.0617;AF_raw=0.0586;AF_afr=0.0145;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0818;AF_fin=0.1004;AF_asj=0.0556;AF_oth=0.0561;non_topmed_AF_popmax=0.0834;non_neuro_AF_popmax=0.0810;non_cancer_AF_popmax=.;controls_AF_popmax=0.0849;Kaviar_AF=0.0509825;Kaviar_AC=7882;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.333449;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +18 29178513 rs36204272 G C 100 PASS AC=10;AF=0.0660942;AN=214;NS=2504;DP=15757;EAS_AF=0.0675;AMR_AF=0.1081;AFR_AF=0.0991;EUR_AF=0.0348;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36204272;CLNALLELEID=45553;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0383;ExAC_nontcga_ALL=0.0538;ExAC_nontcga_AFR=0.0998;ExAC_nontcga_AMR=0.1662;ExAC_nontcga_EAS=0.0706;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0347;ExAC_nontcga_OTH=0.0334;ExAC_nontcga_SAS=0.0216;AF=0.0586;AF_popmax=0.1120;AF_male=0.0591;AF_female=0.0580;AF_raw=0.0588;AF_afr=0.0958;AF_sas=.;AF_amr=0.1120;AF_eas=0.0759;AF_nfe=0.0441;AF_fin=0.0190;AF_asj=0.0208;AF_oth=0.0377;non_topmed_AF_popmax=0.1148;non_neuro_AF_popmax=0.1065;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.0510472;Kaviar_AC=7892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128424;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +18 32335915 rs6650658 A G 100 PASS AC=19;AF=0.0479233;AN=214;NS=2504;DP=18580;EAS_AF=0.001;AMR_AF=0.0432;AFR_AF=0.0915;EUR_AF=0.0805;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6650658;CLNALLELEID=190152;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0628;ExAC_nontcga_AFR=0.1060;ExAC_nontcga_AMR=0.0347;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0719;ExAC_nontcga_NFE=0.0846;ExAC_nontcga_OTH=0.0682;ExAC_nontcga_SAS=0.0121;AF=0.0832;AF_popmax=0.1027;AF_male=0.0837;AF_female=0.0825;AF_raw=0.0833;AF_afr=0.1027;AF_sas=.;AF_amr=0.0331;AF_eas=0.0006;AF_nfe=0.0868;AF_fin=0.0716;AF_asj=0.0517;AF_oth=0.0773;non_topmed_AF_popmax=0.1018;non_neuro_AF_popmax=0.1027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0987;Kaviar_AF=0.0624701;Kaviar_AC=9658;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.984495;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 +18 32374062 rs117571555 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19838;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon3:c.G210A:p.L70L,DTNA:NM_001391:exon3:c.G210A:p.L70L,DTNA:NM_001198941:exon4:c.G210A:p.L70L,DTNA:NM_032978:exon4:c.G210A:p.L70L,DTNA:NM_001128175:exon5:c.G210A:p.L70L,DTNA:NM_001198938:exon5:c.G210A:p.L70L,DTNA:NM_001198939:exon5:c.G210A:p.L70L,DTNA:NM_001198940:exon5:c.G210A:p.L70L,DTNA:NM_001198945:exon5:c.G210A:p.L70L,DTNA:NM_001392:exon5:c.G210A:p.L70L,DTNA:NM_032975:exon5:c.G210A:p.L70L,DTNA:NM_032979:exon5:c.G210A:p.L70L;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117571555;CLNALLELEID=44693;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0048;AF_popmax=0.0083;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0022;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0083;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.004793;Kaviar_AC=741;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731206;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32386101 rs11664472 C A 100 PASS AC=23;AF=0.152356;AN=214;NS=2504;DP=21196;EAS_AF=0.0119;AMR_AF=0.0821;AFR_AF=0.3812;EUR_AF=0.0954;SAS_AF=0.0961;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11664472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1843;AF_popmax=0.3512;AF_male=0.1836;AF_female=0.1853;AF_raw=0.1849;AF_afr=0.3512;AF_sas=.;AF_amr=0.0672;AF_eas=0.0090;AF_nfe=0.1279;AF_fin=0.1483;AF_asj=0.1;AF_oth=0.1342;non_topmed_AF_popmax=0.3522;non_neuro_AF_popmax=0.3493;non_cancer_AF_popmax=.;controls_AF_popmax=0.3527;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32386125 rs4458079 T C 100 PASS AC=35;AF=0.1248;AN=214;NS=2504;DP=20624;EAS_AF=0.2113;AMR_AF=0.1729;AFR_AF=0.0227;EUR_AF=0.1322;SAS_AF=0.1319;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4458079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1116;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1021;AF_popmax=0.2017;AF_male=0.1040;AF_female=0.0998;AF_raw=0.1022;AF_afr=0.0477;AF_sas=.;AF_amr=0.2017;AF_eas=0.1887;AF_nfe=0.1175;AF_fin=0.1079;AF_asj=0.1276;AF_oth=0.0919;non_topmed_AF_popmax=0.2049;non_neuro_AF_popmax=0.1887;non_cancer_AF_popmax=.;controls_AF_popmax=0.2154;Kaviar_AF=0.023305;Kaviar_AC=3603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.065509;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 +18 32386340 rs9952711 T C 100 PASS AC=23;AF=0.152356;AN=214;NS=2504;DP=20047;EAS_AF=0.0119;AMR_AF=0.0821;AFR_AF=0.3812;EUR_AF=0.0954;SAS_AF=0.0961;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9952711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1849;AF_popmax=0.3526;AF_male=0.1838;AF_female=0.1863;AF_raw=0.1851;AF_afr=0.3526;AF_sas=.;AF_amr=0.0674;AF_eas=0.0090;AF_nfe=0.1280;AF_fin=0.1485;AF_asj=0.1;AF_oth=0.1344;non_topmed_AF_popmax=0.3537;non_neuro_AF_popmax=0.3500;non_cancer_AF_popmax=.;controls_AF_popmax=0.3526;Kaviar_AF=0.0232274;Kaviar_AC=3591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32398330 rs139673882 G C 100 PASS 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1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001017152|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.354172;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32400909 rs3216115 AC A 100 PASS AC=22;AF=0.114617;AN=214;NS=2504;DP=16866;EAS_AF=0.0129;AMR_AF=0.0706;AFR_AF=0.239;EUR_AF=0.0954;SAS_AF=0.1022;AA=C|C|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.1094;ExAC_nontcga_AFR=0.2342;ExAC_nontcga_AMR=0.0427;ExAC_nontcga_EAS=0.0113;ExAC_nontcga_FIN=0.1536;ExAC_nontcga_NFE=0.1095;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.1140;AF=0.1526;AF_popmax=0.2363;AF_male=0.1504;AF_female=0.1554;AF_raw=0.1528;AF_afr=0.2363;AF_sas=.;AF_amr=0.0649;AF_eas=0.0096;AF_nfe=0.1284;AF_fin=0.1493;AF_asj=0.1;AF_oth=0.1238;non_topmed_AF_popmax=0.2361;non_neuro_AF_popmax=0.2356;non_cancer_AF_popmax=.;controls_AF_popmax=0.2373;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.1094;ExAC_nontcga_AFR=0.2342;ExAC_nontcga_AMR=0.0427;ExAC_nontcga_EAS=0.0113;ExAC_nontcga_FIN=0.1536;ExAC_nontcga_NFE=0.1095;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.1140;AF=0.1526;AF_popmax=0.2363;AF_male=0.1504;AF_female=0.1554;AF_raw=0.1528;AF_afr=0.2363;AF_sas=.;AF_amr=0.0649;AF_eas=0.0096;AF_nfe=0.1284;AF_fin=0.1493;AF_asj=0.1;AF_oth=0.1238;non_topmed_AF_popmax=0.2361;non_neuro_AF_popmax=0.2356;non_cancer_AF_popmax=.;controls_AF_popmax=0.2373;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32407495 rs542279061 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18458;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542279061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0010;AF_male=0.0004;AF_female=0.0009;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.909511;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32408892 rs117594057 A G 100 PASS AC=3;AF=0.00758786;AN=214;NS=2504;DP=18938;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0179;SAS_AF=0.0082;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117594057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0103;AF_popmax=0.0147;AF_male=0.0108;AF_female=0.0096;AF_raw=0.0102;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0184;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0146;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0019405;Kaviar_AC=300;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.448154;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32408900 rs9946576 T C 100 PASS AC=63;AF=0.229633;AN=214;NS=2504;DP=18892;EAS_AF=0.0446;AMR_AF=0.1614;AFR_AF=0.3555;EUR_AF=0.2664;SAS_AF=0.2607;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9946576;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2710;AF_popmax=0.3509;AF_male=0.2702;AF_female=0.2720;AF_raw=0.2712;AF_afr=0.3509;AF_sas=.;AF_amr=0.1501;AF_eas=0.0404;AF_nfe=0.2631;AF_fin=0.2480;AF_asj=0.2448;AF_oth=0.2486;non_topmed_AF_popmax=0.3520;non_neuro_AF_popmax=0.3534;non_cancer_AF_popmax=.;controls_AF_popmax=0.3511;Kaviar_AF=0.0092208;Kaviar_AC=240;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.448154;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 +18 32408968 rs200190237 C A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18539;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200190237;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0021;AF=0.0013;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0020;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013389;Kaviar_AC=207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.654894;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418186 rs17557695 T A 100 PASS AC=63;AF=0.204073;AN=214;NS=2504;DP=19635;EAS_AF=0.0446;AMR_AF=0.1499;AFR_AF=0.2648;EUR_AF=0.2664;SAS_AF=0.2607;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.204073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17557695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2615;ExAC_nontcga_ALL=0.2313;ExAC_nontcga_AFR=0.2756;ExAC_nontcga_AMR=0.1068;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.2624;ExAC_nontcga_NFE=0.2568;ExAC_nontcga_OTH=0.2697;ExAC_nontcga_SAS=0.2783;AF=0.2490;AF_popmax=0.2726;AF_male=0.2482;AF_female=0.2501;AF_raw=0.2488;AF_afr=0.2726;AF_sas=.;AF_amr=0.1454;AF_eas=0.0404;AF_nfe=0.2630;AF_fin=0.2484;AF_asj=0.2448;AF_oth=0.2449;non_topmed_AF_popmax=0.2735;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2715;Kaviar_AF=0.224053;Kaviar_AC=34639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1590898|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501621;ALLELE_END;VINYL_score=2 GT 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 +18 32418189 rs73949007 A G 100 PASS AC=2;AF=0.0361422;AN=214;NS=2504;DP=19618;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1324;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73949007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0283;AF_popmax=0.0994;AF_male=0.0293;AF_female=0.0270;AF_raw=0.0282;AF_afr=0.0994;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0994;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.0991;Kaviar_AF=0.001824;Kaviar_AC=282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1590898|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501621;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418634 rs1941753 T A 100 PASS AC=20;AF=0.0553115;AN=214;NS=2504;DP=20915;EAS_AF=0.0129;AMR_AF=0.0562;AFR_AF=0.0242;EUR_AF=0.0924;SAS_AF=0.1022;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0553115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1941753;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0998;AF_popmax=0.1276;AF_male=0.0952;AF_female=0.1055;AF_raw=0.0999;AF_afr=0.0496;AF_sas=.;AF_amr=0.0554;AF_eas=0.0096;AF_nfe=0.1276;AF_fin=0.1490;AF_asj=0.1;AF_oth=0.1142;non_topmed_AF_popmax=0.1318;non_neuro_AF_popmax=0.1278;non_cancer_AF_popmax=.;controls_AF_popmax=0.1471;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578210;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32418771 rs186573363 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20579;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198942:exon6:c.A362C:p.Y121S,DTNA:NM_001390:exon12:c.A1235C:p.Y412S,DTNA:NM_001391:exon12:c.A1235C:p.Y412S,DTNA:NM_032978:exon12:c.A1226C:p.Y409S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186573363;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.119;SIFT_converted_rankscore=0.912;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.27;MutationAssessor_score_rankscore=0.647;MutationAssessor_pred=M;FATHMM_score=1.57;FATHMM_converted_rankscore=0.344;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.941;VEST3_rankscore=0.939;MetaSVM_score=-0.698;MetaSVM_rankscore=0.606;MetaSVM_pred=T;MetaLR_score=0.217;MetaLR_rankscore=0.580;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.223;CADD_raw_rankscore=0.328;CADD_phred=17.66;DANN_score=0.990;DANN_rankscore=0.504;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.835;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.801;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=8.444;phyloP100way_vertebrate_rankscore=0.901;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.978;SiPhy_29way_logOdds_rankscore=0.708;Interpro_domain=EF-hand_domain_pair|EF-hand_domain,_type_1;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.652691;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32444040 rs1617318 G A 100 PASS AC=77;AF=0.29373;AN=214;NS=2504;DP=16689;EAS_AF=0.0466;AMR_AF=0.2233;AFR_AF=0.5212;EUR_AF=0.3439;SAS_AF=0.2393;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.29373;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1617318;CLNALLELEID=55581;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3304;ExAC_nontcga_ALL=0.3587;ExAC_nontcga_AFR=0.5467;ExAC_nontcga_AMR=0.1991;ExAC_nontcga_EAS=0.0651;ExAC_nontcga_FIN=0.4342;ExAC_nontcga_NFE=0.4047;ExAC_nontcga_OTH=0.4134;ExAC_nontcga_SAS=0.3032;AF=0.3754;AF_popmax=0.5085;AF_male=0.3737;AF_female=0.3776;AF_raw=0.3759;AF_afr=0.5085;AF_sas=.;AF_amr=0.2028;AF_eas=0.0418;AF_nfe=0.3523;AF_fin=0.3483;AF_asj=0.3241;AF_oth=0.3536;non_topmed_AF_popmax=0.5093;non_neuro_AF_popmax=0.5101;non_cancer_AF_popmax=.;controls_AF_popmax=0.5023;Kaviar_AF=0.28933;Kaviar_AC=44731;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.749129;ALLELE_END;VINYL_score=1 GT 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 1|1 +18 32455379 rs541157 T C 100 PASS AC=30;AF=0.128195;AN=214;NS=2504;DP=18721;EAS_AF=0.0129;AMR_AF=0.0663;AFR_AF=0.27;EUR_AF=0.1183;SAS_AF=0.1094;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.128195;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541157;CLNALLELEID=140881;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1264;ExAC_nontcga_ALL=0.1231;ExAC_nontcga_AFR=0.2714;ExAC_nontcga_AMR=0.0535;ExAC_nontcga_EAS=0.0116;ExAC_nontcga_FIN=0.1633;ExAC_nontcga_NFE=0.1214;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.1309;AF=0.1689;AF_popmax=0.2658;AF_male=0.1673;AF_female=0.1710;AF_raw=0.1691;AF_afr=0.2658;AF_sas=.;AF_amr=0.0755;AF_eas=0.0109;AF_nfe=0.1410;AF_fin=0.1542;AF_asj=0.1310;AF_oth=0.1461;non_topmed_AF_popmax=0.2663;non_neuro_AF_popmax=0.2611;non_cancer_AF_popmax=.;controls_AF_popmax=0.2580;Kaviar_AF=0.121732;Kaviar_AC=18820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000572779|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.035438;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 +18 32459584 rs201829681 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16550;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon10:c.C1052G:p.P351R,DTNA:NM_001198944:exon11:c.C938G:p.P313R,DTNA:NM_032980:exon11:c.C926G:p.P309R,DTNA:NM_001198942:exon13:c.C1109G:p.P370R,DTNA:NM_001198938:exon18:c.C1802G:p.P601R,DTNA:NM_001198940:exon18:c.C1802G:p.P601R,DTNA:NM_001198939:exon19:c.C1823G:p.P608R,DTNA:NM_001390:exon19:c.C1982G:p.P661R,DTNA:NM_032975:exon19:c.C1811G:p.P604R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201829681;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.432;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=2.31;FATHMM_converted_rankscore=0.173;FATHMM_pred=T;PROVEAN_score=-1.26;PROVEAN_converted_rankscore=0.318;PROVEAN_pred=N;VEST3_score=0.829;VEST3_rankscore=0.832;MetaSVM_score=-1.093;MetaSVM_rankscore=0.051;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.269;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.217;M-CAP_pred=T;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.167;CADD_raw_rankscore=0.440;CADD_phred=22.7;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.887;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.266;Eigen-PC-raw=0.378;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.693;integrated_fitCons_score_rankscore=0.558;integrated_confidence_value=0;GERP++_RS=5.22;GERP++_RS_rankscore=0.722;phyloP100way_vertebrate=6.362;phyloP100way_vertebrate_rankscore=0.728;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=17.390;SiPhy_29way_logOdds_rankscore=0.873;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609253;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32459697 rs76713874 G A 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19775;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0179;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76713874;CLNALLELEID=44692;CLNDN=Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0105;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0166;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0017;AF=0.0126;AF_popmax=0.0189;AF_male=0.0133;AF_female=0.0118;AF_raw=0.0126;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0189;AF_fin=0.0210;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0208;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0275;Kaviar_AF=0.0074255;Kaviar_AC=1148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.677582;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 32459704 rs2288085 A G 100 PASS AC=53;AF=0.262181;AN=214;NS=2504;DP=19838;EAS_AF=0.0625;AMR_AF=0.2493;AFR_AF=0.4864;EUR_AF=0.2425;SAS_AF=0.1943;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.262181;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2241;ExAC_nontcga_ALL=0.2247;ExAC_nontcga_AFR=0.4670;ExAC_nontcga_AMR=0.2048;ExAC_nontcga_EAS=0.0746;ExAC_nontcga_FIN=0.1886;ExAC_nontcga_NFE=0.2213;ExAC_nontcga_OTH=0.2067;ExAC_nontcga_SAS=0.2010;AF=0.2732;AF_popmax=0.4683;AF_male=0.2770;AF_female=0.2684;AF_raw=0.2733;AF_afr=0.4683;AF_sas=.;AF_amr=0.2276;AF_eas=0.0648;AF_nfe=0.2115;AF_fin=0.1843;AF_asj=0.2138;AF_oth=0.2228;non_topmed_AF_popmax=0.4678;non_neuro_AF_popmax=0.4763;non_cancer_AF_popmax=.;controls_AF_popmax=0.4685;Kaviar_AF=0.221679;Kaviar_AC=34272;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.039333;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 0|1 +18 32470291 rs9944927 G A 100 PASS AC=48;AF=0.266973;AN=214;NS=2504;DP=20934;EAS_AF=0.0139;AMR_AF=0.1873;AFR_AF=0.5946;EUR_AF=0.2187;SAS_AF=0.1912;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198938:exon20:c.G2062A:p.E688K;1000g2015aug_all=0.266973;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9944927;CLNALLELEID=140884;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.2;FATHMM_converted_rankscore=0.186;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.442;CADD_raw_rankscore=0.355;CADD_phred=19.09;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.198;fathmm-MKL_coding_rankscore=0.206;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.467;Eigen-PC-raw=0.078;GenoCanyon_score=0.988;GenoCanyon_score_rankscore=0.312;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.71;GERP++_RS_rankscore=0.589;phyloP100way_vertebrate=1.979;phyloP100way_vertebrate_rankscore=0.400;phyloP20way_mammalian=0.244;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.417;SiPhy_29way_logOdds_rankscore=0.208;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2347;ExAC_nontcga_AFR=0.564;ExAC_nontcga_AMR=0.2778;ExAC_nontcga_EAS=0.0282;ExAC_nontcga_FIN=0.5;ExAC_nontcga_NFE=0.2558;ExAC_nontcga_OTH=0.1864;ExAC_nontcga_SAS=0.2201;AF=0.2938;AF_popmax=0.5770;AF_male=0.2989;AF_female=0.2874;AF_raw=0.2941;AF_afr=0.5770;AF_sas=.;AF_amr=0.1403;AF_eas=0.0090;AF_nfe=0.1985;AF_fin=0.1881;AF_asj=0.2812;AF_oth=0.2477;non_topmed_AF_popmax=0.5778;non_neuro_AF_popmax=0.5787;non_cancer_AF_popmax=.;controls_AF_popmax=0.5740;Kaviar_AF=0.0590484;Kaviar_AC=9129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.706037;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 1|1 +18 32470459 rs7227051 C T 100 PASS AC=45;AF=0.155551;AN=214;NS=2504;DP=21810;EAS_AF=0.0099;AMR_AF=0.1542;AFR_AF=0.2118;EUR_AF=0.2127;SAS_AF=0.1718;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DTNA;GeneDetail.refGene=NM_032975:c.*2761C>T\x3bNM_001198938:c.*55C>T\x3bNM_001198939:c.*2761C>T\x3bNM_001198940:c.*2761C>T\x3bNM_001390:c.*2761C>T\x3bNM_001198943:c.*2761C>T\x3bNM_001198944:c.*2761C>T\x3bNM_001198942:c.*2761C>T\x3bNM_032980:c.*2761C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7227051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1914;AF_popmax=0.2262;AF_male=0.1953;AF_female=0.1865;AF_raw=0.1917;AF_afr=0.2262;AF_sas=.;AF_amr=0.1265;AF_eas=0.0077;AF_nfe=0.1925;AF_fin=0.1865;AF_asj=0.2361;AF_oth=0.2149;non_topmed_AF_popmax=0.2266;non_neuro_AF_popmax=0.2336;non_cancer_AF_popmax=.;controls_AF_popmax=0.2305;Kaviar_AF=0.0304136;Kaviar_AC=4702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.999299;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 0|1 1|1 +18 33935432 rs533467709 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=24367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533467709;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +18 33952806 rs137891314 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23936;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137891314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.369e-05;AF_popmax=6.482e-05;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34081849 rs17565834 A G 100 PASS AC=77;AF=0.225439;AN=214;NS=2504;DP=16409;EAS_AF=0.0446;AMR_AF=0.2666;AFR_AF=0.2141;EUR_AF=0.4165;SAS_AF=0.2014;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.225439;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17565834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4057;ExAC_nontcga_ALL=0.3207;ExAC_nontcga_AFR=0.2631;ExAC_nontcga_AMR=0.1961;ExAC_nontcga_EAS=0.0548;ExAC_nontcga_FIN=0.4421;ExAC_nontcga_NFE=0.4256;ExAC_nontcga_OTH=0.3636;ExAC_nontcga_SAS=0.2698;AF=0.3564;AF_popmax=0.4393;AF_male=0.3544;AF_female=0.3588;AF_raw=0.3565;AF_afr=0.2424;AF_sas=.;AF_amr=0.2618;AF_eas=0.0443;AF_nfe=0.4393;AF_fin=0.4326;AF_asj=0.2759;AF_oth=0.3921;non_topmed_AF_popmax=0.4427;non_neuro_AF_popmax=0.4397;non_cancer_AF_popmax=.;controls_AF_popmax=0.4612;Kaviar_AF=0.267855;Kaviar_AC=41411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 1|0 1|0 0|1 0|1 1|0 1|1 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|1 +18 34092327 rs12454451 G C 100 PASS AC=15;AF=0.0934505;AN=214;NS=2504;DP=21021;EAS_AF=0.0427;AMR_AF=0.1787;AFR_AF=0.0008;EUR_AF=0.0706;SAS_AF=0.2342;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12454451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0529;AF_popmax=0.2217;AF_male=0.0548;AF_female=0.0506;AF_raw=0.0530;AF_afr=0.0186;AF_sas=.;AF_amr=0.2217;AF_eas=0.0494;AF_nfe=0.0653;AF_fin=0.0414;AF_asj=0.0414;AF_oth=0.0662;non_topmed_AF_popmax=0.2259;non_neuro_AF_popmax=0.1877;non_cancer_AF_popmax=.;controls_AF_popmax=0.1911;Kaviar_AF=0.0167462;Kaviar_AC=2589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34156497 rs61735987 A G 100 PASS AC=1;AF=0.0660942;AN=214;NS=2504;DP=16900;EAS_AF=0.1567;AMR_AF=0.0072;AFR_AF=0.0113;EUR_AF=0.002;SAS_AF=0.1544;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon6:c.A595G:p.I199V,FHOD3:NM_001281740:exon6:c.A595G:p.I199V,FHOD3:NM_025135:exon6:c.A595G:p.I199V;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.31;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.214;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.337;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.065;MutationAssessor_score_rankscore=0.048;MutationAssessor_pred=N;FATHMM_score=2.2;FATHMM_converted_rankscore=0.186;FATHMM_pred=T;PROVEAN_score=-0.15;PROVEAN_converted_rankscore=0.093;PROVEAN_pred=N;VEST3_score=0.067;VEST3_rankscore=0.055;MetaSVM_score=-0.971;MetaSVM_rankscore=0.371;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.448;CADD_raw_rankscore=0.137;CADD_phred=7.022;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.699;fathmm-MKL_coding_rankscore=0.341;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.608;Eigen-PC-raw=-0.447;GenoCanyon_score=0.801;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.693;integrated_fitCons_score_rankscore=0.558;integrated_confidence_value=0;GERP++_RS=0.728;GERP++_RS_rankscore=0.173;phyloP100way_vertebrate=4.209;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=-0.200;phyloP20way_mammalian_rankscore=0.102;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.970;phastCons20way_mammalian_rankscore=0.461;SiPhy_29way_logOdds=8.472;SiPhy_29way_logOdds_rankscore=0.320;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold|Rho_GTPase-binding/formin_homology_3_(GBD/FH3)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0348;ExAC_nontcga_AFR=0.0220;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0.1434;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.1203;AF=0.0165;AF_popmax=0.1497;AF_male=0.0180;AF_female=0.0147;AF_raw=0.0166;AF_afr=0.0199;AF_sas=.;AF_amr=0.0059;AF_eas=0.1497;AF_nfe=0.0051;AF_fin=0.0023;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.1476;non_neuro_AF_popmax=0.1497;non_cancer_AF_popmax=.;controls_AF_popmax=0.1305;Kaviar_AF=0.0300449;Kaviar_AC=4645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34182800 rs34287129 A G 100 PASS AC=73;AF=0.257188;AN=214;NS=2504;DP=22270;EAS_AF=0.372;AMR_AF=0.3948;AFR_AF=0.0809;EUR_AF=0.3201;SAS_AF=0.2147;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34287129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2411;AF_popmax=0.3471;AF_male=0.2428;AF_female=0.2389;AF_raw=0.2416;AF_afr=0.1060;AF_sas=.;AF_amr=0.3420;AF_eas=0.3471;AF_nfe=0.3024;AF_fin=0.2196;AF_asj=0.2569;AF_oth=0.2906;non_topmed_AF_popmax=0.3512;non_neuro_AF_popmax=0.3471;non_cancer_AF_popmax=.;controls_AF_popmax=0.3764;Kaviar_AF=0.0562606;Kaviar_AC=8698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 +18 34191954 rs200811037 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon9:c.G853A:p.V285I,FHOD3:NM_001281740:exon9:c.G853A:p.V285I,FHOD3:NM_025135:exon9:c.G853A:p.V285I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200811037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.176;SIFT_converted_rankscore=0.240;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.250;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.912;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.115;MutationAssessor_score_rankscore=0.288;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_converted_rankscore=0.202;PROVEAN_pred=N;VEST3_score=0.147;VEST3_rankscore=0.174;MetaSVM_score=-0.720;MetaSVM_rankscore=0.595;MetaSVM_pred=T;MetaLR_score=0.222;MetaLR_rankscore=0.585;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.432;M-CAP_pred=T;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.056;CADD_raw_rankscore=0.427;CADD_phred=22.4;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.879;fathmm-MKL_coding_rankscore=0.474;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.254;Eigen-PC-raw=-0.045;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.356;integrated_fitCons_score=0.626;integrated_fitCons_score_rankscore=0.397;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=3.683;phyloP100way_vertebrate_rankscore=0.541;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.267;phastCons20way_mammalian_rankscore=0.231;SiPhy_29way_logOdds=9.785;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=Armadillo-like_helical|Armadillo-type_fold|Rho_GTPase-binding/formin_homology_3_(GBD/FH3)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.888e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34205415 rs59051454 T C 100 PASS AC=30;AF=0.128195;AN=214;NS=2504;DP=18188;EAS_AF=0.002;AMR_AF=0.1153;AFR_AF=0.2806;EUR_AF=0.1581;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.128195;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59051454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1577;AF_popmax=0.2259;AF_male=0.1571;AF_female=0.1584;AF_raw=0.1578;AF_afr=0.2259;AF_sas=.;AF_amr=0.0814;AF_eas=0.0026;AF_nfe=0.1407;AF_fin=0.1655;AF_asj=0.0828;AF_oth=0.1305;non_topmed_AF_popmax=0.2269;non_neuro_AF_popmax=0.2220;non_cancer_AF_popmax=.;controls_AF_popmax=0.2288;Kaviar_AF=0.0266491;Kaviar_AC=4120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34205551 rs60414347 C T 100 PASS AC=14;AF=0.0872604;AN=214;NS=2504;DP=14879;EAS_AF=0.2262;AMR_AF=0.0331;AFR_AF=0.0651;EUR_AF=0.0447;SAS_AF=0.0562;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.C1035T:p.S345S,FHOD3:NM_001281740:exon10:c.C1035T:p.S345S,FHOD3:NM_025135:exon10:c.C1035T:p.S345S;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60414347;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.410;CADD_raw_rankscore=0.351;CADD_phred=18.89;DANN_score=0.862;DANN_rankscore=0.158;fathmm-MKL_coding_score=0.312;fathmm-MKL_coding_rankscore=0.241;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.077;Eigen-PC-raw=-0.005;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.324;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=0.938;GERP++_RS_rankscore=0.185;phyloP100way_vertebrate=-0.338;phyloP100way_vertebrate_rankscore=0.078;phyloP20way_mammalian=-0.343;phyloP20way_mammalian_rankscore=0.071;phastCons100way_vertebrate=0.241;phastCons100way_vertebrate_rankscore=0.245;phastCons20way_mammalian=0.962;phastCons20way_mammalian_rankscore=0.444;SiPhy_29way_logOdds=9.548;SiPhy_29way_logOdds_rankscore=0.383;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0604;ExAC_nontcga_ALL=0.0663;ExAC_nontcga_AFR=0.0830;ExAC_nontcga_AMR=0.0231;ExAC_nontcga_EAS=0.2116;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0596;ExAC_nontcga_OTH=0.0450;ExAC_nontcga_SAS=0.0567;AF=0.0669;AF_popmax=0.2449;AF_male=0.0713;AF_female=0.0615;AF_raw=0.0670;AF_afr=0.0807;AF_sas=.;AF_amr=0.0259;AF_eas=0.2449;AF_nfe=0.0556;AF_fin=0.0187;AF_asj=0.0799;AF_oth=0.0451;non_topmed_AF_popmax=0.2424;non_neuro_AF_popmax=0.2449;non_cancer_AF_popmax=.;controls_AF_popmax=0.2473;Kaviar_AF=0.0643135;Kaviar_AC=9943;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.820949;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232543 rs62083981 G A 100 PASS AC=7;AF=0.0165735;AN=214;NS=2504;DP=18593;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0298;SAS_AF=0.0266;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1297A:p.A433T;1000g2015aug_all=0.0165735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62083981;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.58;FATHMM_converted_rankscore=0.291;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.091;CADD_raw_rankscore=0.085;CADD_phred=1.795;DANN_score=0.649;DANN_rankscore=0.074;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.129;Eigen-PC-raw=-0.152;GenoCanyon_score=0.111;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.197;GERP++_RS_rankscore=0.144;phyloP100way_vertebrate=-0.000;phyloP100way_vertebrate_rankscore=0.128;phyloP20way_mammalian=-1.170;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.929;SiPhy_29way_logOdds_rankscore=0.087;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0378;ExAC_nontcga_OTH=0.0408;ExAC_nontcga_SAS=0.0352;AF=0.0238;AF_popmax=0.0255;AF_male=0.0231;AF_female=0.0247;AF_raw=0.0239;AF_afr=0.0197;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0255;AF_fin=0.0392;AF_asj=0.0276;AF_oth=0.0249;non_topmed_AF_popmax=0.0266;non_neuro_AF_popmax=0.0257;non_cancer_AF_popmax=.;controls_AF_popmax=0.0293;Kaviar_AF=0.0063971;Kaviar_AC=989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232610 rs2848901 C T 100 PASS AC=57;AF=0.319489;AN=214;NS=2504;DP=16924;EAS_AF=0.1825;AMR_AF=0.4467;AFR_AF=0.2958;EUR_AF=0.2863;SAS_AF=0.4366;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;1000g2015aug_all=0.319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2848901;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_converted_rankscore=0.348;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.357;CADD_raw_rankscore=0.227;CADD_phred=12.57;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_rankscore=0.262;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.816;Eigen-PC-raw=-0.043;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=2.557;phyloP100way_vertebrate_rankscore=0.453;phyloP20way_mammalian=0.826;phyloP20way_mammalian_rankscore=0.337;phastCons100way_vertebrate=0.293;phastCons100way_vertebrate_rankscore=0.250;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=15.833;SiPhy_29way_logOdds_rankscore=0.785;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3922;ExAC_nontcga_AFR=0.3333;ExAC_nontcga_AMR=0.5069;ExAC_nontcga_EAS=0.1690;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.3151;ExAC_nontcga_OTH=0.2966;ExAC_nontcga_SAS=0.4251;AF=0.2702;AF_popmax=0.4717;AF_male=0.2712;AF_female=0.2689;AF_raw=0.2703;AF_afr=0.2814;AF_sas=.;AF_amr=0.4717;AF_eas=0.1695;AF_nfe=0.2828;AF_fin=0.1839;AF_asj=0.2586;AF_oth=0.2689;non_topmed_AF_popmax=0.4753;non_neuro_AF_popmax=0.4675;non_cancer_AF_popmax=.;controls_AF_popmax=0.4634;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.32197::-0.216564;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34232657 rs72895597 G A 100 PASS AC=38;AF=0.0702875;AN=214;NS=2504;DP=16173;EAS_AF=0.002;AMR_AF=0.111;AFR_AF=0.0091;EUR_AF=0.2028;SAS_AF=0.0583;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1411A:p.G471R;1000g2015aug_all=0.0702875;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72895597;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.55;FATHMM_converted_rankscore=0.299;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.089;CADD_raw_rankscore=0.085;CADD_phred=1.816;DANN_score=0.424;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.073;Eigen-PC-raw=-0.164;GenoCanyon_score=0.114;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-0.555;GERP++_RS_rankscore=0.112;phyloP100way_vertebrate=0.399;phyloP100way_vertebrate_rankscore=0.205;phyloP20way_mammalian=-3.821;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=0.637;SiPhy_29way_logOdds_rankscore=0.007;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0988;ExAC_nontcga_AFR=0.0238;ExAC_nontcga_AMR=0.0764;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.3333;ExAC_nontcga_NFE=0.1381;ExAC_nontcga_OTH=0.1525;ExAC_nontcga_SAS=0.0886;AF=0.1289;AF_popmax=0.1714;AF_male=0.1259;AF_female=0.1326;AF_raw=0.1293;AF_afr=0.0377;AF_sas=.;AF_amr=0.0802;AF_eas=0.0026;AF_nfe=0.1714;AF_fin=0.2311;AF_asj=0.1207;AF_oth=0.1524;non_topmed_AF_popmax=0.1689;non_neuro_AF_popmax=0.1701;non_cancer_AF_popmax=.;controls_AF_popmax=0.1619;Kaviar_AF=0.0329427;Kaviar_AC=5093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34232952 rs1893433 T C 100 PASS AC=56;AF=0.3125;AN=214;NS=2504;DP=19028;EAS_AF=0.1835;AMR_AF=0.4452;AFR_AF=0.2663;EUR_AF=0.2833;SAS_AF=0.4438;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893433;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2650;AF_popmax=0.4716;AF_male=0.2652;AF_female=0.2647;AF_raw=0.2652;AF_afr=0.2646;AF_sas=.;AF_amr=0.4716;AF_eas=0.1761;AF_nfe=0.2815;AF_fin=0.1816;AF_asj=0.2552;AF_oth=0.2703;non_topmed_AF_popmax=0.4752;non_neuro_AF_popmax=0.4638;non_cancer_AF_popmax=.;controls_AF_popmax=0.4553;Kaviar_AF=0.302021;Kaviar_AC=7861;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.320076::-0.21623;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34233231 rs1893434 C T 100 PASS AC=103;AF=0.571086;AN=214;NS=2504;DP=19417;EAS_AF=0.4256;AMR_AF=0.6066;AFR_AF=0.7247;EUR_AF=0.5139;SAS_AF=0.547;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1893434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5447;AF_popmax=0.6986;AF_male=0.5510;AF_female=0.5367;AF_raw=0.5445;AF_afr=0.6986;AF_sas=.;AF_amr=0.5829;AF_eas=0.4299;AF_nfe=0.4989;AF_fin=0.4329;AF_asj=0.4621;AF_oth=0.4760;non_topmed_AF_popmax=0.6998;non_neuro_AF_popmax=0.7037;non_cancer_AF_popmax=.;controls_AF_popmax=0.7016;Kaviar_AF=0.524474;Kaviar_AC=13651;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859776|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 1|0 1|0 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 1|0 0|1 0|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 1|1 1|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 +18 34233356 rs139122756 C G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=19416;EAS_AF=0;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon13:c.C1698G:p.H566Q;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139122756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.66;FATHMM_converted_rankscore=0.275;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.577;CADD_raw_rankscore=0.371;CADD_phred=19.96;DANN_score=0.693;DANN_rankscore=0.087;fathmm-MKL_coding_score=0.761;fathmm-MKL_coding_rankscore=0.370;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.442;Eigen-PC-raw=0.059;GenoCanyon_score=0.243;GenoCanyon_score_rankscore=0.186;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.53;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=0.757;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.871;phastCons20way_mammalian_rankscore=0.364;SiPhy_29way_logOdds=3.659;SiPhy_29way_logOdds_rankscore=0.077;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0010;AF_popmax=0.0034;AF_male=0.0011;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0034;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0023;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859776|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34238093 rs199885700 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15618;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon11:c.A1252C:p.S418R,FHOD3:NM_025135:exon11:c.A1252C:p.S418R,FHOD3:NM_001281740:exon14:c.A1777C:p.S593R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199885700;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.317;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_rankscore=0.270;Polyphen2_HVAR_pred=B;LRT_score=0.877;LRT_converted_rankscore=0.088;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=N;MutationAssessor_score=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=1.95;FATHMM_converted_rankscore=0.225;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.315;VEST3_rankscore=0.466;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.215;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.225;M-CAP_pred=T;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=0.237;MutPred_rankscore=0.168;CADD_raw=1.407;CADD_raw_rankscore=0.232;CADD_phred=12.83;DANN_score=0.991;DANN_rankscore=0.524;fathmm-MKL_coding_score=0.141;fathmm-MKL_coding_rankscore=0.180;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.568;Eigen-PC-raw=-0.603;GenoCanyon_score=0.764;GenoCanyon_score_rankscore=0.235;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.245;GERP++_RS_rankscore=0.147;phyloP100way_vertebrate=0.756;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=0.297;phastCons100way_vertebrate_rankscore=0.251;phastCons20way_mammalian=0.030;phastCons20way_mammalian_rankscore=0.147;SiPhy_29way_logOdds=8.127;SiPhy_29way_logOdds_rankscore=0.300;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34238217 rs146873252 G A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=17796;EAS_AF=0;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146873252;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0033;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0033;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0023;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34261559 rs542241 T A 100 PASS AC=100;AF=0.460264;AN=214;NS=2504;DP=19416;EAS_AF=0.6438;AMR_AF=0.4035;AFR_AF=0.3737;EUR_AF=0.4493;SAS_AF=0.4397;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.460264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4265;ExAC_nontcga_ALL=0.4876;ExAC_nontcga_AFR=0.4146;ExAC_nontcga_AMR=0.4054;ExAC_nontcga_EAS=0.6635;ExAC_nontcga_FIN=0.5268;ExAC_nontcga_NFE=0.5024;ExAC_nontcga_OTH=0.4388;ExAC_nontcga_SAS=0.4426;AF=0.4848;AF_popmax=0.6340;AF_male=0.4822;AF_female=0.4880;AF_raw=0.4707;AF_afr=0.4331;AF_sas=.;AF_amr=0.4083;AF_eas=0.6340;AF_nfe=0.4880;AF_fin=0.5280;AF_asj=0.5880;AF_oth=0.5104;non_topmed_AF_popmax=0.6375;non_neuro_AF_popmax=0.6340;non_cancer_AF_popmax=.;controls_AF_popmax=0.6494;Kaviar_AF=0.449315;Kaviar_AC=69465;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.467181::0.205223;Heart_Left_Ventricle=Heart_Left_Ventricle::0.473783::0.20155;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 +18 34261581 rs34100890 AG A 100 PASS AC=145;AF=0.63099;AN=214;NS=2504;DP=19413;EAS_AF=0.6448;AMR_AF=0.5303;AFR_AF=0.7436;EUR_AF=0.661;SAS_AF=0.5051;AA=G|GG|G|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.63099;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34100890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6421;ExAC_nontcga_ALL=0.6264;ExAC_nontcga_AFR=0.7215;ExAC_nontcga_AMR=0.4697;ExAC_nontcga_EAS=0.6462;ExAC_nontcga_FIN=0.7174;ExAC_nontcga_NFE=0.6622;ExAC_nontcga_OTH=0.6168;ExAC_nontcga_SAS=0.5261;AF=0.6783;AF_popmax=0.7325;AF_male=0.6769;AF_female=0.6800;AF_raw=0.6787;AF_afr=0.7325;AF_sas=.;AF_amr=0.5083;AF_eas=0.6319;AF_nfe=0.6529;AF_fin=0.7177;AF_asj=0.7083;AF_oth=0.6673;non_topmed_AF_popmax=0.7329;non_neuro_AF_popmax=0.7365;non_cancer_AF_popmax=.;controls_AF_popmax=0.7383;Kaviar_AF=0.0184344;Kaviar_AC=2850;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 0|1 0|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 0|0 0|0 +18 34273111 rs74480696 C G 100 PASS AC=12;AF=0.0107827;AN=214;NS=2504;DP=19144;EAS_AF=0.001;AMR_AF=0.0216;AFR_AF=0;EUR_AF=0.0308;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74480696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0233;AF_popmax=0.0340;AF_male=0.0239;AF_female=0.0225;AF_raw=0.0233;AF_afr=0.0063;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0340;AF_fin=0.0245;AF_asj=0.0315;AF_oth=0.0313;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0338;non_cancer_AF_popmax=.;controls_AF_popmax=0.0287;Kaviar_AF=0.0045989;Kaviar_AC=711;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.211657;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34273149 rs141536967 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141536967;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0108;ExAC_nontcga_SAS=0.0007;AF=0.0011;AF_popmax=0.0059;AF_male=0.0010;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0013389;Kaviar_AC=207;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.127833;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34273279 rs61735993 C G 100 PASS AC=44;AF=0.0902556;AN=214;NS=2504;DP=16667;EAS_AF=0.001;AMR_AF=0.1196;AFR_AF=0.0635;EUR_AF=0.2187;SAS_AF=0.0654;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1553G:p.A518G,FHOD3:NM_025135:exon14:c.C1604G:p.A535G,FHOD3:NM_001281740:exon17:c.C2129G:p.A710G;1000g2015aug_all=0.0902556;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.408;SIFT_pred=T;Polyphen2_HDIV_score=0.705;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_rankscore=0.706;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.322;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.34;MutationAssessor_score_rankscore=0.674;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_converted_rankscore=0.213;FATHMM_pred=T;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.028;MetaSVM_score=-1.099;MetaSVM_rankscore=0.042;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.318;CADD_raw_rankscore=0.223;CADD_phred=12.36;DANN_score=0.995;DANN_rankscore=0.678;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.589;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.265;Eigen-PC-raw=0.260;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=5.337;phyloP100way_vertebrate_rankscore=0.655;phyloP20way_mammalian=0.883;phyloP20way_mammalian_rankscore=0.387;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.073;phastCons20way_mammalian_rankscore=0.177;SiPhy_29way_logOdds=11.351;SiPhy_29way_logOdds_rankscore=0.486;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Brain_Frontal_Cortex_BA9;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1810;ExAC_nontcga_ALL=0.1332;ExAC_nontcga_AFR=0.0665;ExAC_nontcga_AMR=0.0715;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.2008;ExAC_nontcga_NFE=0.1792;ExAC_nontcga_OTH=0.1877;ExAC_nontcga_SAS=0.0938;AF=0.1387;AF_popmax=0.1758;AF_male=0.1371;AF_female=0.1408;AF_raw=0.1388;AF_afr=0.0765;AF_sas=.;AF_amr=0.0943;AF_eas=0;AF_nfe=0.1758;AF_fin=0.1978;AF_asj=0.1345;AF_oth=0.1577;non_topmed_AF_popmax=0.1699;non_neuro_AF_popmax=0.1749;non_cancer_AF_popmax=.;controls_AF_popmax=0.1591;Kaviar_AF=0.136745;Kaviar_AC=21141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34273440 rs483351 C T 100 PASS AC=103;AF=0.476238;AN=214;NS=2504;DP=18111;EAS_AF=0.6488;AMR_AF=0.402;AFR_AF=0.4206;EUR_AF=0.4602;SAS_AF=0.4427;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs483351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4851;AF_popmax=0.6544;AF_male=0.4834;AF_female=0.4873;AF_raw=0.4848;AF_afr=0.4365;AF_sas=.;AF_amr=0.4092;AF_eas=0.6544;AF_nfe=0.4874;AF_fin=0.5262;AF_asj=0.5828;AF_oth=0.5009;non_topmed_AF_popmax=0.6583;non_neuro_AF_popmax=0.6544;non_cancer_AF_popmax=.;controls_AF_popmax=0.6608;Kaviar_AF=0.0927543;Kaviar_AC=14340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000573257|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1510214|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|0 1|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 +18 34289142 rs61735994 A G 100 PASS AC=11;AF=0.014976;AN=214;NS=2504;DP=14614;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.003;EUR_AF=0.0368;SAS_AF=0.0215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.A1745G:p.Q582R,FHOD3:NM_025135:exon15:c.A1796G:p.Q599R,FHOD3:NM_001281740:exon18:c.A2321G:p.Q774R;1000g2015aug_all=0.014976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61735994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_converted_rankscore=0.049;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=1.51;FATHMM_converted_rankscore=0.312;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_converted_rankscore=0.307;PROVEAN_pred=N;VEST3_score=0.011;VEST3_rankscore=0.001;MetaSVM_score=-1.034;MetaSVM_rankscore=0.193;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.504;CADD_raw_rankscore=0.017;CADD_phred=0.003;DANN_score=0.379;DANN_rankscore=0.025;fathmm-MKL_coding_score=0.196;fathmm-MKL_coding_rankscore=0.205;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.382;Eigen-PC-raw=-1.441;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=-8.78;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=0.099;phyloP100way_vertebrate_rankscore=0.149;phyloP20way_mammalian=0.109;phyloP20way_mammalian_rankscore=0.204;phastCons100way_vertebrate=0.219;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.180;phastCons20way_mammalian_rankscore=0.213;SiPhy_29way_logOdds=8.720;SiPhy_29way_logOdds_rankscore=0.334;Interpro_domain=.;GTEx_V6p_gene=ENSG00000134779.10;GTEx_V6p_tissue=Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0335;ExAC_nontcga_ALL=0.0282;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0167;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0256;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0268;AF=0.0227;AF_popmax=0.0325;AF_male=0.0221;AF_female=0.0236;AF_raw=0.0228;AF_afr=0.0069;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0325;AF_fin=0.0248;AF_asj=0.0517;AF_oth=0.0341;non_topmed_AF_popmax=0.0313;non_neuro_AF_popmax=0.0324;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.027891;Kaviar_AC=4312;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289245 rs141915411 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20005;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.C1848T:p.N616N,FHOD3:NM_025135:exon15:c.C1899T:p.N633N,FHOD3:NM_001281740:exon18:c.C2424T:p.N808N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141915411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.843120;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289285 rs61735998 G T 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=20852;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0229;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.G1888T:p.V630F,FHOD3:NM_025135:exon15:c.G1939T:p.V647F,FHOD3:NM_001281740:exon18:c.G2464T:p.V822F;1000g2015aug_all=0.00579073;GWAS=rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521;ORegAnno_REGULATORY_P=rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521;avsnp150=rs61735998;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.107;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_rankscore=0.342;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.398;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.45;FATHMM_converted_rankscore=0.325;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.104;VEST3_rankscore=0.109;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_rankscore=0.066;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.122;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.592;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.401;Eigen-PC-raw=-0.271;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=1.65;GERP++_RS_rankscore=0.229;phyloP100way_vertebrate=2.802;phyloP100way_vertebrate_rankscore=0.474;phyloP20way_mammalian=0.130;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=4.403;SiPhy_29way_logOdds_rankscore=0.107;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0128;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0195;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0043;AF=0.0156;AF_popmax=0.0219;AF_male=0.0148;AF_female=0.0167;AF_raw=0.0156;AF_afr=0.0040;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0253;AF_asj=0;AF_oth=0.0221;non_topmed_AF_popmax=0.0216;non_neuro_AF_popmax=0.0221;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0141137;Kaviar_AC=2182;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.391942;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34289364 rs11661275 G A 100 PASS AC=44;AF=0.0760783;AN=214;NS=2504;DP=19176;EAS_AF=0.001;AMR_AF=0.1138;AFR_AF=0.0136;EUR_AF=0.2177;SAS_AF=0.0654;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11661275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1782;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.0352;ExAC_nontcga_AMR=0.0694;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.2039;ExAC_nontcga_NFE=0.1808;ExAC_nontcga_OTH=0.1931;ExAC_nontcga_SAS=0.1068;AF=0.1303;AF_popmax=0.1756;AF_male=0.1283;AF_female=0.1329;AF_raw=0.1305;AF_afr=0.0457;AF_sas=.;AF_amr=0.0896;AF_eas=0;AF_nfe=0.1756;AF_fin=0.2003;AF_asj=0.1345;AF_oth=0.1608;non_topmed_AF_popmax=0.1697;non_neuro_AF_popmax=0.1745;non_cancer_AF_popmax=.;controls_AF_popmax=0.1603;Kaviar_AF=0.12721;Kaviar_AC=19667;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 +18 34297753 rs3809994 C T 100 PASS AC=70;AF=0.419329;AN=214;NS=2504;DP=20197;EAS_AF=0.4355;AMR_AF=0.4813;AFR_AF=0.3495;EUR_AF=0.3479;SAS_AF=0.5266;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3809994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3933;ExAC_nontcga_ALL=0.3996;ExAC_nontcga_AFR=0.3692;ExAC_nontcga_AMR=0.5317;ExAC_nontcga_EAS=0.4335;ExAC_nontcga_FIN=0.2951;ExAC_nontcga_NFE=0.3667;ExAC_nontcga_OTH=0.4048;ExAC_nontcga_SAS=0.5028;AF=0.3655;AF_popmax=0.5024;AF_male=0.3685;AF_female=0.3618;AF_raw=0.3660;AF_afr=0.3448;AF_sas=.;AF_amr=0.5024;AF_eas=0.4369;AF_nfe=0.3785;AF_fin=0.2925;AF_asj=0.3897;AF_oth=0.3662;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4855;non_cancer_AF_popmax=.;controls_AF_popmax=0.5041;Kaviar_AF=0.377253;Kaviar_AC=58324;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34298542 rs78740177 G A 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=13061;EAS_AF=0;AMR_AF=0;AFR_AF=0.0129;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G2705A:p.R902Q,FHOD3:NM_025135:exon16:c.G2756A:p.R919Q,FHOD3:NM_001281740:exon19:c.G3281A:p.R1094Q;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78740177;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.132;SIFT_converted_rankscore=0.265;SIFT_pred=T;Polyphen2_HDIV_score=0.795;Polyphen2_HDIV_rankscore=0.441;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_rankscore=0.315;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.11;MutationAssessor_score_rankscore=0.085;MutationAssessor_pred=N;FATHMM_score=2.28;FATHMM_converted_rankscore=0.173;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.356;VEST3_rankscore=0.417;MetaSVM_score=-1.026;MetaSVM_rankscore=0.216;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.072;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.308;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.120;Eigen-PC-raw=0.244;GenoCanyon_score=0.987;GenoCanyon_score_rankscore=0.312;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.46;GERP++_RS_rankscore=0.534;phyloP100way_vertebrate=8.050;phyloP100way_vertebrate_rankscore=0.891;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=15.686;SiPhy_29way_logOdds_rankscore=0.771;Interpro_domain=Armadillo-like_helical|Formin,_FH2_domain\x3bFormin,_FH2_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0123;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0006;AF=0.0046;AF_popmax=0.0128;AF_male=0.0042;AF_female=0.0050;AF_raw=0.0046;AF_afr=0.0128;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0126;non_neuro_AF_popmax=0.0136;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.805976;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34298732 rs7240383 G C 100 PASS AC=65;AF=0.395367;AN=214;NS=2504;DP=17436;EAS_AF=0.3254;AMR_AF=0.4697;AFR_AF=0.4115;EUR_AF=0.3201;SAS_AF=0.4703;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.395367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7240383;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3517;AF_popmax=0.4847;AF_male=0.3540;AF_female=0.3488;AF_raw=0.3518;AF_afr=0.4029;AF_sas=.;AF_amr=0.4847;AF_eas=0.3103;AF_nfe=0.3393;AF_fin=0.2781;AF_asj=0.2793;AF_oth=0.3287;non_topmed_AF_popmax=0.4901;non_neuro_AF_popmax=0.4729;non_cancer_AF_popmax=.;controls_AF_popmax=0.4919;Kaviar_AF=0.068893;Kaviar_AC=10651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.382353::-0.207304;ENSEMBLReg=Name\x3dENSR00001017391|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34298737 rs551120330 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17776;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551120330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001017391|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269680|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34310668 rs3744903 C T 100 PASS AC=64;AF=0.319489;AN=214;NS=2504;DP=19189;EAS_AF=0.3194;AMR_AF=0.4452;AFR_AF=0.1505;EUR_AF=0.3161;SAS_AF=0.4622;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;1000g2015aug_all=0.319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3744903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3427;ExAC_nontcga_ALL=0.3437;ExAC_nontcga_AFR=0.1817;ExAC_nontcga_AMR=0.5035;ExAC_nontcga_EAS=0.3021;ExAC_nontcga_FIN=0.2770;ExAC_nontcga_NFE=0.3199;ExAC_nontcga_OTH=0.3718;ExAC_nontcga_SAS=0.4486;AF=0.2869;AF_popmax=0.4741;AF_male=0.2874;AF_female=0.2863;AF_raw=0.2873;AF_afr=0.1762;AF_sas=.;AF_amr=0.4741;AF_eas=0.3078;AF_nfe=0.3375;AF_fin=0.2766;AF_asj=0.2793;AF_oth=0.3177;non_topmed_AF_popmax=0.4790;non_neuro_AF_popmax=0.4603;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.21943;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34322621 rs143423311 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19601;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143423311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0007;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34322877 rs147978397 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=17521;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147978397;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0036;AF_male=0.0021;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0037;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0033;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34324091 rs2303510 G A 100 PASS AC=64;AF=0.376198;AN=214;NS=2504;DP=19762;EAS_AF=0.3204;AMR_AF=0.389;AFR_AF=0.41;EUR_AF=0.3042;SAS_AF=0.453;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;1000g2015aug_all=0.376198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.143;SIFT_converted_rankscore=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.496;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_score_rankscore=0.189;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_converted_rankscore=0.161;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.114;MetaSVM_score=-0.803;MetaSVM_rankscore=0.550;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.145;CADD_raw_rankscore=0.438;CADD_phred=22.6;DANN_score=0.998;DANN_rankscore=0.884;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.811;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.289;Eigen-PC-raw=0.426;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.505;SiPhy_29way_logOdds_rankscore=0.876;Interpro_domain=Armadillo-like_helical|Formin,_FH2_domain\x3bFormin,_FH2_domain;GTEx_V6p_gene=ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10|ENSG00000134779.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3263;ExAC_nontcga_ALL=0.3433;ExAC_nontcga_AFR=0.4159;ExAC_nontcga_AMR=0.4096;ExAC_nontcga_EAS=0.3025;ExAC_nontcga_FIN=0.2648;ExAC_nontcga_NFE=0.3022;ExAC_nontcga_OTH=0.3545;ExAC_nontcga_SAS=0.4447;AF=0.3355;AF_popmax=0.3999;AF_male=0.3387;AF_female=0.3315;AF_raw=0.3354;AF_afr=0.3999;AF_sas=.;AF_amr=0.3809;AF_eas=0.3125;AF_nfe=0.3175;AF_fin=0.2686;AF_asj=0.2552;AF_oth=0.3081;non_topmed_AF_popmax=0.3999;non_neuro_AF_popmax=0.3918;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.222653;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.058529;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34324190 rs2303509 C T 100 PASS AC=63;AF=0.302117;AN=214;NS=2504;DP=17629;EAS_AF=0.3214;AMR_AF=0.3646;AFR_AF=0.1407;EUR_AF=0.3032;SAS_AF=0.455;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302117;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303509;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3251;ExAC_nontcga_ALL=0.3209;ExAC_nontcga_AFR=0.1685;ExAC_nontcga_AMR=0.3990;ExAC_nontcga_EAS=0.3018;ExAC_nontcga_FIN=0.2651;ExAC_nontcga_NFE=0.3018;ExAC_nontcga_OTH=0.3504;ExAC_nontcga_SAS=0.4476;AF=0.2697;AF_popmax=0.3720;AF_male=0.2699;AF_female=0.2695;AF_raw=0.2699;AF_afr=0.1665;AF_sas=.;AF_amr=0.3720;AF_eas=0.3131;AF_nfe=0.3168;AF_fin=0.2689;AF_asj=0.2552;AF_oth=0.2948;non_topmed_AF_popmax=0.3759;non_neuro_AF_popmax=0.3764;non_cancer_AF_popmax=.;controls_AF_popmax=0.3893;Kaviar_AF=0.313269;Kaviar_AC=48432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.34375::-0.234893;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|1 1|1 +18 34335047 rs192513115 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=11047;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192513115;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0002;AF_popmax=0.0042;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0042;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269681|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34340773 rs374450746 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14179;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374450746;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.444e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +18 34349434 rs138272162 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20023;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138272162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0019;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16591464 rs9305079 G A 100 PASS AC=160;AF=0.650559;AN=214;NS=2504;DP=18662;EAS_AF=0.628;AMR_AF=0.7493;AFR_AF=0.5318;EUR_AF=0.6829;SAS_AF=0.7311;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;1000g2015aug_all=0.650559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9305079;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7043;ExAC_nontcga_ALL=0.6981;ExAC_nontcga_AFR=0.5458;ExAC_nontcga_AMR=0.7746;ExAC_nontcga_EAS=0.6371;ExAC_nontcga_FIN=0.6176;ExAC_nontcga_NFE=0.7092;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7540;AF=0.6493;AF_popmax=0.7293;AF_male=0.6496;AF_female=0.6490;AF_raw=0.6487;AF_afr=0.5491;AF_sas=.;AF_amr=0.7293;AF_eas=0.6298;AF_nfe=0.7046;AF_fin=0.6105;AF_asj=0.8414;AF_oth=0.7057;non_topmed_AF_popmax=0.7290;non_neuro_AF_popmax=0.7083;non_cancer_AF_popmax=.;controls_AF_popmax=0.7076;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.3125::0.259006;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478238;ALLELE_END;VINYL_score=2 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16593198 rs11670231 A G 100 PASS AC=55;AF=0.175319;AN=214;NS=2504;DP=15997;EAS_AF=0.1677;AMR_AF=0.17;AFR_AF=0.1233;EUR_AF=0.2028;SAS_AF=0.229;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11670231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0008;AF_raw=0.0003;AF_afr=0.0004;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0050;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0010;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 +19 16593203 rs75847259 A G 100 PASS AC=105;AF=0.43131;AN=214;NS=2504;DP=16499;EAS_AF=0.4296;AMR_AF=0.4438;AFR_AF=0.348;EUR_AF=0.4732;SAS_AF=0.4939;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.43131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75847259;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6213;AF_popmax=0.6979;AF_male=0.6207;AF_female=0.6221;AF_raw=0.6209;AF_afr=0.4904;AF_sas=.;AF_amr=0.5511;AF_eas=0.5913;AF_nfe=0.6979;AF_fin=0.6052;AF_asj=0.8322;AF_oth=0.6803;non_topmed_AF_popmax=0.6997;non_neuro_AF_popmax=0.6962;non_cancer_AF_popmax=.;controls_AF_popmax=0.7021;Kaviar_AF=0.238359;Kaviar_AC=6204;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|1 0|1 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|1 1|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 1|0 1|0 1|1 0|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|1 +19 16593213 rs545855935 AAAAC A 100 PASS AC=55;AF=0.175319;AN=214;NS=2504;DP=17523;EAS_AF=0.1677;AMR_AF=0.17;AFR_AF=0.1233;EUR_AF=0.2028;SAS_AF=0.229;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545855935;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0056791;Kaviar_AC=878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 +19 16593318 rs118131979 C T 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=21729;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon7:c.G861A:p.T287T;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118131979;CLNALLELEID=222802;CLNDN=Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0167;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0346;ExAC_nontcga_NFE=0.0159;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0097;AF=0.0158;AF_popmax=0.0203;AF_male=0.0151;AF_female=0.0167;AF_raw=0.0158;AF_afr=0.0026;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0203;AF_fin=0.0371;AF_asj=0.0138;AF_oth=0.0212;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0253;Kaviar_AF=0.0122637;Kaviar_AC=1896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.999780;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16593415 rs8100755 G A 100 PASS AC=160;AF=0.660144;AN=214;NS=2504;DP=18080;EAS_AF=0.627;AMR_AF=0.7507;AFR_AF=0.5681;EUR_AF=0.6829;SAS_AF=0.7311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8100755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7048;ExAC_nontcga_ALL=0.7018;ExAC_nontcga_AFR=0.5876;ExAC_nontcga_AMR=0.7753;ExAC_nontcga_EAS=0.6375;ExAC_nontcga_FIN=0.6175;ExAC_nontcga_NFE=0.7095;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7534;AF=0.6603;AF_popmax=0.7329;AF_male=0.6611;AF_female=0.6594;AF_raw=0.6598;AF_afr=0.5887;AF_sas=.;AF_amr=0.7329;AF_eas=0.6294;AF_nfe=0.7044;AF_fin=0.6111;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7327;non_neuro_AF_popmax=0.7120;non_cancer_AF_popmax=.;controls_AF_popmax=0.7082;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8100755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7048;ExAC_nontcga_ALL=0.7018;ExAC_nontcga_AFR=0.5876;ExAC_nontcga_AMR=0.7753;ExAC_nontcga_EAS=0.6375;ExAC_nontcga_FIN=0.6175;ExAC_nontcga_NFE=0.7095;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7534;AF=0.6603;AF_popmax=0.7329;AF_male=0.6611;AF_female=0.6594;AF_raw=0.6598;AF_afr=0.5887;AF_sas=.;AF_amr=0.7329;AF_eas=0.6294;AF_nfe=0.7044;AF_fin=0.6111;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7327;non_neuro_AF_popmax=0.7120;non_cancer_AF_popmax=.;controls_AF_popmax=0.7082;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16593573 rs10403020 G A 100 PASS AC=33;AF=0.144569;AN=214;NS=2504;DP=20082;EAS_AF=0.0992;AMR_AF=0.1182;AFR_AF=0.1868;EUR_AF=0.1581;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon6:c.C702T:p.D234D;1000g2015aug_all=0.144569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10403020;CLNALLELEID=488044;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1692;ExAC_nontcga_ALL=0.1482;ExAC_nontcga_AFR=0.1877;ExAC_nontcga_AMR=0.0867;ExAC_nontcga_EAS=0.0891;ExAC_nontcga_FIN=0.1797;ExAC_nontcga_NFE=0.1664;ExAC_nontcga_OTH=0.125;ExAC_nontcga_SAS=0.1247;AF=0.1635;AF_popmax=0.1772;AF_male=0.1635;AF_female=0.1636;AF_raw=0.1635;AF_afr=0.1772;AF_sas=.;AF_amr=0.1288;AF_eas=0.0790;AF_nfe=0.1677;AF_fin=0.1657;AF_asj=0.0621;AF_oth=0.1636;non_topmed_AF_popmax=0.1778;non_neuro_AF_popmax=0.1809;non_cancer_AF_popmax=.;controls_AF_popmax=0.1795;Kaviar_AF=0.146156;Kaviar_AC=22596;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802942;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 +19 16594967 rs10413787 A G 100 PASS AC=160;AF=0.659744;AN=214;NS=2504;DP=15866;EAS_AF=0.627;AMR_AF=0.7493;AFR_AF=0.5681;EUR_AF=0.6819;SAS_AF=0.7311;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.659744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10413787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7026;ExAC_nontcga_ALL=0.7023;ExAC_nontcga_AFR=0.5862;ExAC_nontcga_AMR=0.7761;ExAC_nontcga_EAS=0.6388;ExAC_nontcga_FIN=0.6179;ExAC_nontcga_NFE=0.7082;ExAC_nontcga_OTH=0.7202;ExAC_nontcga_SAS=0.7548;AF=0.6560;AF_popmax=0.7318;AF_male=0.6569;AF_female=0.6548;AF_raw=0.6554;AF_afr=0.5839;AF_sas=.;AF_amr=0.7318;AF_eas=0.6252;AF_nfe=0.6998;AF_fin=0.6058;AF_asj=0.8380;AF_oth=0.7103;non_topmed_AF_popmax=0.7316;non_neuro_AF_popmax=0.7116;non_cancer_AF_popmax=.;controls_AF_popmax=0.7009;Kaviar_AF=0.003758;Kaviar_AC=581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16594979 rs7252242 C T 100 PASS AC=162;AF=0.692492;AN=214;NS=2504;DP=16891;EAS_AF=0.6756;AMR_AF=0.7594;AFR_AF=0.618;EUR_AF=0.7018;SAS_AF=0.7536;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.692492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7252242;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6512;AF_popmax=0.7244;AF_male=0.6523;AF_female=0.6498;AF_raw=0.6460;AF_afr=0.5851;AF_sas=.;AF_amr=0.7244;AF_eas=0.5738;AF_nfe=0.6959;AF_fin=0.6059;AF_asj=0.8262;AF_oth=0.698;non_topmed_AF_popmax=0.7258;non_neuro_AF_popmax=0.7051;non_cancer_AF_popmax=.;controls_AF_popmax=0.6991;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16594989 rs577084803 C T 100 PASS AC=111;AF=0.510583;AN=214;NS=2504;DP=19616;EAS_AF=0.4861;AMR_AF=0.5144;AFR_AF=0.5174;EUR_AF=0.495;SAS_AF=0.5399;AA=-|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.510583;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577084803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0019;AF_raw=0.0050;AF_afr=0.0006;AF_sas=.;AF_amr=0.0046;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0100;AF_asj=0.0050;AF_oth=0;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0030;non_cancer_AF_popmax=.;controls_AF_popmax=0.0172;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|1 1|1 1|1 0|1 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|0 1|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|1 0|1 0|1 1|1 1|0 1|0 0|1 0|1 1|0 0|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 0|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|1 1|0 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 1|0 1|0 1|0 0|1 0|1 +19 16601154 rs3810196 T C 100 PASS AC=159;AF=0.603035;AN=214;NS=2504;DP=20512;EAS_AF=0.5972;AMR_AF=0.6095;AFR_AF=0.4637;EUR_AF=0.671;SAS_AF=0.7229;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.603035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810196;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6966;ExAC_nontcga_ALL=0.6640;ExAC_nontcga_AFR=0.4833;ExAC_nontcga_AMR=0.5573;ExAC_nontcga_EAS=0.6150;ExAC_nontcga_FIN=0.6150;ExAC_nontcga_NFE=0.7033;ExAC_nontcga_OTH=0.7032;ExAC_nontcga_SAS=0.7476;AF=0.6224;AF_popmax=0.6990;AF_male=0.6225;AF_female=0.6221;AF_raw=0.6219;AF_afr=0.4899;AF_sas=.;AF_amr=0.5508;AF_eas=0.5987;AF_nfe=0.6990;AF_fin=0.6054;AF_asj=0.8345;AF_oth=0.6832;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.6972;non_cancer_AF_popmax=.;controls_AF_popmax=0.7020;Kaviar_AF=0.651324;Kaviar_AC=100696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16601168 rs3810197 G A 100 PASS AC=29;AF=0.114018;AN=214;NS=2504;DP=19974;EAS_AF=0.1042;AMR_AF=0.0937;AFR_AF=0.1036;EUR_AF=0.1362;SAS_AF=0.1299;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114018;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810197;CLNALLELEID=487994;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1415;ExAC_nontcga_ALL=0.1217;ExAC_nontcga_AFR=0.1091;ExAC_nontcga_AMR=0.0677;ExAC_nontcga_EAS=0.0929;ExAC_nontcga_FIN=0.1574;ExAC_nontcga_NFE=0.1379;ExAC_nontcga_OTH=0.1037;ExAC_nontcga_SAS=0.1121;AF=0.1326;AF_popmax=0.1466;AF_male=0.1321;AF_female=0.1334;AF_raw=0.1327;AF_afr=0.1093;AF_sas=.;AF_amr=0.1132;AF_eas=0.0879;AF_nfe=0.1466;AF_fin=0.1559;AF_asj=0.0448;AF_oth=0.1492;non_topmed_AF_popmax=0.1463;non_neuro_AF_popmax=0.1480;non_cancer_AF_popmax=.;controls_AF_popmax=0.1505;Kaviar_AF=0.121493;Kaviar_AC=18783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 +19 16601194 rs3810198 C T 100 PASS AC=159;AF=0.658946;AN=214;NS=2504;DP=19492;EAS_AF=0.627;AMR_AF=0.7493;AFR_AF=0.5673;EUR_AF=0.6789;SAS_AF=0.7311;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;1000g2015aug_all=0.658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810198;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7038;ExAC_nontcga_ALL=0.7011;ExAC_nontcga_AFR=0.5874;ExAC_nontcga_AMR=0.7741;ExAC_nontcga_EAS=0.6377;ExAC_nontcga_FIN=0.6179;ExAC_nontcga_NFE=0.7085;ExAC_nontcga_OTH=0.7176;ExAC_nontcga_SAS=0.7529;AF=0.6599;AF_popmax=0.7288;AF_male=0.6610;AF_female=0.6586;AF_raw=0.6593;AF_afr=0.5904;AF_sas=.;AF_amr=0.7288;AF_eas=0.6287;AF_nfe=0.7032;AF_fin=0.6102;AF_asj=0.8414;AF_oth=0.7044;non_topmed_AF_popmax=0.7284;non_neuro_AF_popmax=0.7058;non_cancer_AF_popmax=.;controls_AF_popmax=0.7074;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.248025;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 +19 16601358 rs199561391 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19392;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.C217G:p.R73G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199561391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.872;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.415;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-5.17;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.833;VEST3_rankscore=0.821;MetaSVM_score=-0.133;MetaSVM_rankscore=0.794;MetaSVM_pred=T;MetaLR_score=0.328;MetaLR_rankscore=0.697;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.406;M-CAP_pred=T;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.383;CADD_raw_rankscore=0.881;CADD_phred=29.5;DANN_score=0.998;DANN_rankscore=0.871;fathmm-MKL_coding_score=0.862;fathmm-MKL_coding_rankscore=0.451;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.661;Eigen-PC-raw=0.609;GenoCanyon_score=0.562;GenoCanyon_score_rankscore=0.214;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=2.266;phyloP100way_vertebrate_rankscore=0.427;phyloP20way_mammalian=0.973;phyloP20way_mammalian_rankscore=0.593;phastCons100way_vertebrate=0.923;phastCons100way_vertebrate_rankscore=0.318;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.270;SiPhy_29way_logOdds_rankscore=0.594;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=.;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.778717;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16601411 rs79268770 A T 100 PASS AC=4;AF=0.0355431;AN=214;NS=2504;DP=19982;EAS_AF=0.005;AMR_AF=0.0216;AFR_AF=0.0242;EUR_AF=0.0517;SAS_AF=0.0757;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79268770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0564;ExAC_nontcga_ALL=0.0476;ExAC_nontcga_AFR=0.0234;ExAC_nontcga_AMR=0.0144;ExAC_nontcga_EAS=0.0060;ExAC_nontcga_FIN=0.0847;ExAC_nontcga_NFE=0.0534;ExAC_nontcga_OTH=0.0620;ExAC_nontcga_SAS=0.0689;AF=0.0463;AF_popmax=0.0558;AF_male=0.0435;AF_female=0.0499;AF_raw=0.0464;AF_afr=0.0241;AF_sas=.;AF_amr=0.0177;AF_eas=0.0071;AF_nfe=0.0558;AF_fin=0.0873;AF_asj=0.0278;AF_oth=0.0433;non_topmed_AF_popmax=0.0572;non_neuro_AF_popmax=0.0559;non_cancer_AF_popmax=.;controls_AF_popmax=0.0628;Kaviar_AF=0.047121;Kaviar_AC=7285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0588235::-0.52735;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.114091;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16606589 rs201808529 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon2:c.T166C:p.F56L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201808529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.921;Polyphen2_HDIV_rankscore=0.491;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.569;Polyphen2_HVAR_rankscore=0.480;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.837;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.145;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=0.77;FATHMM_converted_rankscore=0.496;FATHMM_pred=T;PROVEAN_score=-5.11;PROVEAN_converted_rankscore=0.831;PROVEAN_pred=D;VEST3_score=0.454;VEST3_rankscore=0.507;MetaSVM_score=-0.579;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.175;MetaLR_rankscore=0.519;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.279;REVEL_rankscore=0.600;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.072;CADD_raw_rankscore=0.836;CADD_phred=28.1;DANN_score=0.998;DANN_rankscore=0.898;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.556;Eigen-PC-raw=0.563;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.519;integrated_fitCons_score_rankscore=0.209;integrated_confidence_value=1;GERP++_RS=5.39;GERP++_RS_rankscore=0.775;phyloP100way_vertebrate=7.025;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=0.985;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.973;phastCons20way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=8.856;SiPhy_29way_logOdds_rankscore=0.342;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1787468|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.915669;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 16606727 rs140986966 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=16801;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140986966;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0039;AF_popmax=0.0067;AF_male=0.0049;AF_female=0.0027;AF_raw=0.0039;AF_afr=0.0009;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0067;AF_fin=0;AF_asj=0.0207;AF_oth=0.0028;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.508743;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +19 16606742 rs3810199 G C 100 PASS AC=193;AF=0.802316;AN=214;NS=2504;DP=16649;EAS_AF=0.6964;AMR_AF=0.8703;AFR_AF=0.7678;EUR_AF=0.8419;SAS_AF=0.8691;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.802316;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810199;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8290;AF_popmax=0.8724;AF_male=0.8303;AF_female=0.8273;AF_raw=0.8286;AF_afr=0.7889;AF_sas=.;AF_amr=0.8641;AF_eas=0.6825;AF_nfe=0.8724;AF_fin=0.7755;AF_asj=0.9034;AF_oth=0.8665;non_topmed_AF_popmax=0.8711;non_neuro_AF_popmax=0.8717;non_cancer_AF_popmax=.;controls_AF_popmax=0.8701;Kaviar_AF=0.163801;Kaviar_AC=25324;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.449069;Heart_Left_Ventricle=Heart_Left_Ventricle::0.152574::0.562087;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.373565;ALLELE_END;VINYL_score=4 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 +19 16606766 rs3810200 G C 100 PASS AC=193;AF=0.810104;AN=214;NS=2504;DP=16254;EAS_AF=0.6964;AMR_AF=0.8732;AFR_AF=0.7958;EUR_AF=0.8419;SAS_AF=0.8691;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.810104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8355;AF_popmax=0.8723;AF_male=0.8370;AF_female=0.8336;AF_raw=0.8352;AF_afr=0.8127;AF_sas=.;AF_amr=0.8644;AF_eas=0.6796;AF_nfe=0.8723;AF_fin=0.7759;AF_asj=0.9034;AF_oth=0.8676;non_topmed_AF_popmax=0.8710;non_neuro_AF_popmax=0.8715;non_cancer_AF_popmax=.;controls_AF_popmax=0.8699;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.449069;Heart_Left_Ventricle=Heart_Left_Ventricle::0.152574::0.562087;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.197480;ALLELE_END;VINYL_score=4 GT 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 +19 16606821 rs200779567 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15820;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200779567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0016;AF_popmax=0.0023;AF_male=0.0016;AF_female=0.0017;AF_raw=0.0016;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000107764|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1822681|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.794574;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35521779 rs72556351 G T 100 PASS AC=63;AF=0.148163;AN=214;NS=2504;DP=3658;EAS_AF=0.0546;AMR_AF=0.2205;AFR_AF=0.174;EUR_AF=0.2346;SAS_AF=0.0695;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.148163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72556351;CLNALLELEID=99386;CLNDN=Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.5;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.5;AF=0.1915;AF_popmax=0.2252;AF_male=0.1892;AF_female=0.1945;AF_raw=0.1920;AF_afr=0.1845;AF_sas=.;AF_amr=0.2252;AF_eas=0.0451;AF_nfe=0.2040;AF_fin=0.2204;AF_asj=0.1992;AF_oth=0.2124;non_topmed_AF_popmax=0.2237;non_neuro_AF_popmax=0.2239;non_cancer_AF_popmax=.;controls_AF_popmax=0.2792;Kaviar_AF=0.024534;Kaviar_AC=3793;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001023991|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1175688|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.241974;ALLELE_END;VINYL_score=1 GT 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 0|1 0|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 +19 35524558 rs104894718 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon3:c.C363T:p.C121C,SCN1B:NM_001321605:exon3:c.C264T:p.C88C,SCN1B:NM_199037:exon3:c.C363T:p.C121C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs104894718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.510107;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon3:c.C363T:p.C121C,SCN1B:NM_001321605:exon3:c.C264T:p.C88C,SCN1B:NM_199037:exon3:c.C363T:p.C121C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs104894718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.510107;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35524824 rs55742440 T C 100 PASS AC=112;AF=0.377596;AN=214;NS=2504;DP=17595;EAS_AF=0.2411;AMR_AF=0.389;AFR_AF=0.5378;EUR_AF=0.3897;SAS_AF=0.2812;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;1000g2015aug_all=0.377596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55742440;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_converted_rankscore=0.908;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-0.983;MetaSVM_rankscore=0.344;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.216;REVEL_rankscore=0.514;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.608;CADD_raw_rankscore=0.050;CADD_phred=0.120;DANN_score=0.596;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_rankscore=0.003;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.329;Eigen-PC-raw=-1.412;GenoCanyon_score=0.205;GenoCanyon_score_rankscore=0.182;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-1.91;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-0.013;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=-0.503;phyloP20way_mammalian_rankscore=0.051;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=8.821;SiPhy_29way_logOdds_rankscore=0.340;Interpro_domain=.;GTEx_V6p_gene=ENSG00000089351.10|ENSG00000105711.6|ENSG00000089351.10|ENSG00000179066.6|ENSG00000089351.10;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3721;ExAC_nontcga_ALL=0.4245;ExAC_nontcga_AFR=0.5838;ExAC_nontcga_AMR=0.4259;ExAC_nontcga_EAS=0.3600;ExAC_nontcga_FIN=0.5115;ExAC_nontcga_NFE=0.4642;ExAC_nontcga_OTH=0.4310;ExAC_nontcga_SAS=0.3122;AF=0.4232;AF_popmax=0.5246;AF_male=0.4215;AF_female=0.4253;AF_raw=0.4235;AF_afr=0.5246;AF_sas=.;AF_amr=0.3641;AF_eas=0.2668;AF_nfe=0.3890;AF_fin=0.4096;AF_asj=0.4759;AF_oth=0.3965;non_topmed_AF_popmax=0.5253;non_neuro_AF_popmax=0.5241;non_cancer_AF_popmax=.;controls_AF_popmax=0.5309;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.418747;ALLELE_END;VINYL_score=-1 GT 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 +19 35524836 rs66876876 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18012;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G641A:p.R214Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66876876;CLNALLELEID=188693;CLNDN=Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided;CLNDISDB=MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.335;SIFT_converted_rankscore=0.129;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_rankscore=0.163;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.59;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.31;PROVEAN_converted_rankscore=0.040;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.013;MetaSVM_score=-0.732;MetaSVM_rankscore=0.589;MetaSVM_pred=T;MetaLR_score=0.407;MetaLR_rankscore=0.757;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.067;CADD_raw_rankscore=0.196;CADD_phred=11.04;DANN_score=0.968;DANN_rankscore=0.304;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.052;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.953;Eigen-PC-raw=-1.042;GenoCanyon_score=0.131;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=0.783;GERP++_RS_rankscore=0.176;phyloP100way_vertebrate=-0.828;phyloP100way_vertebrate_rankscore=0.045;phyloP20way_mammalian=0.138;phyloP20way_mammalian_rankscore=0.222;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=4.305;SiPhy_29way_logOdds_rankscore=0.103;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0145;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0023;AF_popmax=0.0038;AF_male=0.0022;AF_female=0.0024;AF_raw=0.0024;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0023;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0022509;Kaviar_AC=348;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.498282;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35524939 rs67701503 C A 100 PASS AC=48;AF=0.127396;AN=214;NS=2504;DP=21003;EAS_AF=0.1825;AMR_AF=0.1311;AFR_AF=0.0885;EUR_AF=0.1461;SAS_AF=0.1012;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.C744A:p.S248R;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67701503;CLNALLELEID=142702;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.012;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.011;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.869;CADD_raw_rankscore=0.522;CADD_phred=23.5;DANN_score=0.991;DANN_rankscore=0.515;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.780;Eigen-PC-raw=-0.832;GenoCanyon_score=0.797;GenoCanyon_score_rankscore=0.241;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=1.88;GERP++_RS_rankscore=0.245;phyloP100way_vertebrate=0.294;phyloP100way_vertebrate_rankscore=0.187;phyloP20way_mammalian=0.032;phyloP20way_mammalian_rankscore=0.150;phastCons100way_vertebrate=0.604;phastCons100way_vertebrate_rankscore=0.275;phastCons20way_mammalian=0.698;phastCons20way_mammalian_rankscore=0.309;SiPhy_29way_logOdds=7.859;SiPhy_29way_logOdds_rankscore=0.285;Interpro_domain=.;GTEx_V6p_gene=ENSG00000271032.1|ENSG00000168661.10|ENSG00000105711.6|ENSG00000271032.1|ENSG00000271032.1|ENSG00000271032.1|ENSG00000105707.9|ENSG00000271032.1|ENSG00000089351.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1455;ExAC_nontcga_ALL=0.1424;ExAC_nontcga_AFR=0.1045;ExAC_nontcga_AMR=0.1419;ExAC_nontcga_EAS=0.1813;ExAC_nontcga_FIN=0.15;ExAC_nontcga_NFE=0.1928;ExAC_nontcga_OTH=0.1746;ExAC_nontcga_SAS=0.1149;AF=0.1500;AF_popmax=0.2054;AF_male=0.1471;AF_female=0.1536;AF_raw=0.1507;AF_afr=0.0898;AF_sas=.;AF_amr=0.1111;AF_eas=0.2054;AF_nfe=0.1679;AF_fin=0.1955;AF_asj=0.2690;AF_oth=0.1526;non_topmed_AF_popmax=0.2040;non_neuro_AF_popmax=0.2054;non_cancer_AF_popmax=.;controls_AF_popmax=0.2082;Kaviar_AF=0.0493008;Kaviar_AC=7622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.032540;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 +19 35524944 rs67486287 G C 100 PASS AC=48;AF=0.119209;AN=214;NS=2504;DP=21167;EAS_AF=0.1825;AMR_AF=0.1297;AFR_AF=0.0582;EUR_AF=0.1461;SAS_AF=0.1012;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G749C:p.R250T;1000g2015aug_all=0.119209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67486287;CLNALLELEID=45417;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.218;Polyphen2_HDIV_rankscore=0.285;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_rankscore=0.250;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.6;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.044;VEST3_rankscore=0.024;MetaSVM_score=-1.015;MetaSVM_rankscore=0.254;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.010;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.238;CADD_raw_rankscore=0.214;CADD_phred=11.94;DANN_score=0.931;DANN_rankscore=0.221;fathmm-MKL_coding_score=0.096;fathmm-MKL_coding_rankscore=0.151;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.771;Eigen-PC-raw=-0.871;GenoCanyon_score=0.618;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=1.84;GERP++_RS_rankscore=0.242;phyloP100way_vertebrate=0.409;phyloP100way_vertebrate_rankscore=0.207;phyloP20way_mammalian=0.147;phyloP20way_mammalian_rankscore=0.235;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.129;SiPhy_29way_logOdds_rankscore=0.141;Interpro_domain=.;GTEx_V6p_gene=ENSG00000271032.1|ENSG00000168661.10|ENSG00000271032.1|ENSG00000271032.1|ENSG00000271032.1|ENSG00000105707.9|ENSG00000271032.1|ENSG00000089351.10;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.1368;ExAC_nontcga_AFR=0.0753;ExAC_nontcga_AMR=0.1404;ExAC_nontcga_EAS=0.1824;ExAC_nontcga_FIN=0.15;ExAC_nontcga_NFE=0.1932;ExAC_nontcga_OTH=0.1746;ExAC_nontcga_SAS=0.1095;AF=0.1425;AF_popmax=0.2058;AF_male=0.1394;AF_female=0.1464;AF_raw=0.1432;AF_afr=0.0643;AF_sas=.;AF_amr=0.1097;AF_eas=0.2058;AF_nfe=0.1676;AF_fin=0.1946;AF_asj=0.2690;AF_oth=0.1489;non_topmed_AF_popmax=0.2044;non_neuro_AF_popmax=0.2058;non_cancer_AF_popmax=.;controls_AF_popmax=0.2083;Kaviar_AF=0.0480912;Kaviar_AC=7435;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.223272;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 +19 35530073 rs16969930 T C 100 PASS AC=7;AF=0.0155751;AN=214;NS=2504;DP=22965;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon4:c.T501C:p.I167I,SCN1B:NM_001321605:exon4:c.T402C:p.I134I;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16969930;CLNALLELEID=135657;CLNDN=Cardiac_conduction_defect,_nonspecific|Seizures|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0321;ExAC_nontcga_ALL=0.0232;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0305;ExAC_nontcga_OTH=0.0317;ExAC_nontcga_SAS=0.0331;AF=0.0193;AF_popmax=0.0294;AF_male=0.0188;AF_female=0.0200;AF_raw=0.0194;AF_afr=0.0073;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0294;AF_fin=0.0141;AF_asj=0.0207;AF_oth=0.0211;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0300;non_cancer_AF_popmax=.;controls_AF_popmax=0.0245;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483376;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +19 35530482 rs528950415 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528950415;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530514 rs28365107 T G 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=17101;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.015;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0175;ExAC_nontcga_SAS=0.0200;AF=0.0093;AF_popmax=0.0154;AF_male=0.0085;AF_female=0.0102;AF_raw=0.0093;AF_afr=0.0037;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0154;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0074;non_topmed_AF_popmax=0.0149;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0118692;Kaviar_AC=1835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.420194;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530525 rs28365109 C A 100 PASS AC=3;AF=0.00798722;AN=214;NS=2504;DP=17081;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0204;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365109;CLNALLELEID=256855;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0199;AF=0.0093;AF_popmax=0.0155;AF_male=0.0087;AF_female=0.0102;AF_raw=0.0094;AF_afr=0.0037;AF_sas=.;AF_amr=0.0024;AF_eas=0.0006;AF_nfe=0.0155;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0083;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0131;Kaviar_AF=0.0119145;Kaviar_AC=1842;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.185828;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530580 rs150721582 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=16333;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon5:c.G632A:p.C211Y,SCN1B:NM_001321605:exon5:c.G533A:p.C178Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150721582;CLNALLELEID=188707;CLNDN=Seizures|Brugada_syndrome_5|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.165;MutationAssessor_score_rankscore=0.608;MutationAssessor_pred=M;FATHMM_score=-4.78;FATHMM_converted_rankscore=0.981;FATHMM_pred=D;PROVEAN_score=-4.77;PROVEAN_converted_rankscore=0.804;PROVEAN_pred=D;VEST3_score=0.799;VEST3_rankscore=0.789;MetaSVM_score=1.027;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.944;MetaLR_rankscore=0.982;MetaLR_pred=D;M-CAP_score=0.279;M-CAP_rankscore=0.902;M-CAP_pred=D;REVEL_score=0.666;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.991;CADD_raw_rankscore=0.824;CADD_phred=27.8;DANN_score=0.997;DANN_rankscore=0.834;fathmm-MKL_coding_score=0.875;fathmm-MKL_coding_rankscore=0.468;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.716;Eigen-PC-raw=0.670;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=7.152;phyloP100way_vertebrate_rankscore=0.768;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=8.254;SiPhy_29way_logOdds_rankscore=0.307;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0004;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541412;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530586 rs201209882 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16084;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon5:c.G638A:p.G213D,SCN1B:NM_001321605:exon5:c.G539A:p.G180D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201209882;CLNALLELEID=188708;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.941;Polyphen2_HVAR_rankscore=0.659;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.795;MutationAssessor_score_rankscore=0.474;MutationAssessor_pred=L;FATHMM_score=-5.02;FATHMM_converted_rankscore=0.986;FATHMM_pred=D;PROVEAN_score=-2.95;PROVEAN_converted_rankscore=0.615;PROVEAN_pred=D;VEST3_score=0.562;VEST3_rankscore=0.596;MetaSVM_score=1.013;MetaSVM_rankscore=0.974;MetaSVM_pred=D;MetaLR_score=0.938;MetaLR_rankscore=0.980;MetaLR_pred=D;M-CAP_score=0.386;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.607;REVEL_rankscore=0.848;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.849;CADD_raw_rankscore=0.801;CADD_phred=27.3;DANN_score=0.998;DANN_rankscore=0.888;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.529;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.443;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.61;GERP++_RS_rankscore=0.301;phyloP100way_vertebrate=5.090;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=7.320;SiPhy_29way_logOdds_rankscore=0.255;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.49e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.682159;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 35530690 rs28365105 C G 100 PASS AC=16;AF=0.0383387;AN=214;NS=2504;DP=12003;EAS_AF=0.001;AMR_AF=0.0519;AFR_AF=0.0061;EUR_AF=0.0686;SAS_AF=0.0798;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0383387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365105;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0689;AF_popmax=0.0987;AF_male=0.0663;AF_female=0.0722;AF_raw=0.0691;AF_afr=0.0127;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0987;AF_fin=0.1060;AF_asj=0.125;AF_oth=0.0720;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.0981;non_cancer_AF_popmax=.;controls_AF_popmax=0.1235;Kaviar_AF=0.0119791;Kaviar_AC=1852;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.412912;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46273462 rs564296814 CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 100 PASS AC=181;AF=0.891573;AN=214;NS=2504;DP=12697;EAS_AF=0.8611;AMR_AF=0.8948;AFR_AF=0.9682;EUR_AF=0.8181;SAS_AF=0.8926;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.891573;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564296814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1511;AF_popmax=0.2225;AF_male=0.1513;AF_female=0.1507;AF_raw=0.1381;AF_afr=0.1436;AF_sas=.;AF_amr=0.2225;AF_eas=0.1143;AF_nfe=0.1490;AF_fin=0.1668;AF_asj=0.1435;AF_oth=0.1928;non_topmed_AF_popmax=0.2273;non_neuro_AF_popmax=0.2018;non_cancer_AF_popmax=.;controls_AF_popmax=0.2121;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 0|1 1|0 +19 46273522 rs573703971 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=8629;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573703971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=6.069e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.588e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.556010;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +19 46273627 rs576259794 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=12847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576259794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.773124;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274171 rs635299 A C 100 PASS AC=110;AF=0.608227;AN=214;NS=2504;DP=12073;EAS_AF=0.628;AMR_AF=0.6686;AFR_AF=0.6679;EUR_AF=0.4672;SAS_AF=0.6094;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.608227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs635299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5305;AF_popmax=0.6446;AF_male=0.5378;AF_female=0.5214;AF_raw=0.5304;AF_afr=0.6440;AF_sas=.;AF_amr=0.6427;AF_eas=0.6446;AF_nfe=0.4695;AF_fin=0.4632;AF_asj=0.3586;AF_oth=0.4963;non_topmed_AF_popmax=0.6481;non_neuro_AF_popmax=0.6485;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.641974;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.608227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs635299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5305;AF_popmax=0.6446;AF_male=0.5378;AF_female=0.5214;AF_raw=0.5304;AF_afr=0.6440;AF_sas=.;AF_amr=0.6427;AF_eas=0.6446;AF_nfe=0.4695;AF_fin=0.4632;AF_asj=0.3586;AF_oth=0.4963;non_topmed_AF_popmax=0.6481;non_neuro_AF_popmax=0.6485;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.641974;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46274357 rs183029748 G A 100 PASS AC=2;AF=0.00299521;AN=214;NS=2504;DP=14238;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.002;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183029748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0125;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0231;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0066;AF=0.0092;AF_popmax=0.0147;AF_male=0.0098;AF_female=0.0083;AF_raw=0.0092;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0140;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.318060;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183029748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0125;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0079;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0231;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0066;AF=0.0092;AF_popmax=0.0147;AF_male=0.0098;AF_female=0.0083;AF_raw=0.0092;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0140;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0034411;Kaviar_AC=532;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.318060;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274392 rs2854300 G C 100 PASS AC=14;AF=0.0543131;AN=214;NS=2504;DP=15289;EAS_AF=0.0873;AMR_AF=0.0259;AFR_AF=0.0257;EUR_AF=0.0497;SAS_AF=0.0838;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2854300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1415;ExAC_nontcga_AFR=0.0544;ExAC_nontcga_AMR=0.0686;ExAC_nontcga_EAS=0.2031;ExAC_nontcga_FIN=0.1;ExAC_nontcga_NFE=0.1435;ExAC_nontcga_OTH=0.1786;ExAC_nontcga_SAS=0.1558;AF=0.0489;AF_popmax=0.0738;AF_male=0.0482;AF_female=0.0498;AF_raw=0.0491;AF_afr=0.0337;AF_sas=.;AF_amr=0.0295;AF_eas=0.0738;AF_nfe=0.0550;AF_fin=0.0423;AF_asj=0.0972;AF_oth=0.0729;non_topmed_AF_popmax=0.0737;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0733;Kaviar_AF=0.0215974;Kaviar_AC=3339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.711432;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2854300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1415;ExAC_nontcga_AFR=0.0544;ExAC_nontcga_AMR=0.0686;ExAC_nontcga_EAS=0.2031;ExAC_nontcga_FIN=0.1;ExAC_nontcga_NFE=0.1435;ExAC_nontcga_OTH=0.1786;ExAC_nontcga_SAS=0.1558;AF=0.0489;AF_popmax=0.0738;AF_male=0.0482;AF_female=0.0498;AF_raw=0.0491;AF_afr=0.0337;AF_sas=.;AF_amr=0.0295;AF_eas=0.0738;AF_nfe=0.0550;AF_fin=0.0423;AF_asj=0.0972;AF_oth=0.0729;non_topmed_AF_popmax=0.0737;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0733;Kaviar_AF=0.0215974;Kaviar_AC=3339;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.711432;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274553 rs112693590 G A 100 PASS AC=11;AF=0.0177716;AN=214;NS=2504;DP=16091;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.0646;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112693590;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.223;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.279;CADD_raw_rankscore=0.121;CADD_phred=5.484;DANN_score=0.731;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=1.137;Eigen-PC-raw=5.898;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.742;integrated_fitCons_score_rankscore=0.980;integrated_confidence_value=0;GERP++_RS=0.764;GERP++_RS_rankscore=0.175;phyloP100way_vertebrate=-0.935;phyloP100way_vertebrate_rankscore=0.040;phyloP20way_mammalian=-0.059;phyloP20way_mammalian_rankscore=0.122;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=4.800;SiPhy_29way_logOdds_rankscore=0.126;Interpro_domain=.;GTEx_V6p_gene=ENSG00000181027.6;GTEx_V6p_tissue=Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0519;ExAC_nontcga_ALL=0.0415;ExAC_nontcga_AFR=0.0081;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1050;ExAC_nontcga_NFE=0.0595;ExAC_nontcga_OTH=0.0335;ExAC_nontcga_SAS=0.0068;AF=0.0404;AF_popmax=0.0525;AF_male=0.0389;AF_female=0.0423;AF_raw=0.0405;AF_afr=0.0087;AF_sas=.;AF_amr=0.0153;AF_eas=0.0006;AF_nfe=0.0525;AF_fin=0.0848;AF_asj=0.0414;AF_oth=0.0579;non_topmed_AF_popmax=0.0537;non_neuro_AF_popmax=0.0523;non_cancer_AF_popmax=.;controls_AF_popmax=0.0544;Kaviar_AF=0.03857;Kaviar_AC=5963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.860318;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 46274624 rs146680240 G A 100 PASS AC=1;AF=0.00559105;AN=214;NS=2504;DP=14359;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0169;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1364T:p.T455M,DMPK:NM_001081563:exon12:c.C1661T:p.T554M,DMPK:NM_001081560:exon13:c.C1616T:p.T539M,DMPK:NM_001081562:exon13:c.C1616T:p.T539M,DMPK:NM_004409:exon13:c.C1631T:p.T544M,DMPK:NM_001288764:exon14:c.C1709T:p.T570M;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146680240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.062;SIFT_converted_rankscore=0.416;SIFT_pred=T;Polyphen2_HDIV_score=0.777;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_rankscore=0.373;Polyphen2_HVAR_pred=B;LRT_score=0.055;LRT_converted_rankscore=0.227;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.35;MutationAssessor_score_rankscore=0.677;MutationAssessor_pred=M;FATHMM_score=-0.48;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-1.14;PROVEAN_converted_rankscore=0.293;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.055;MetaSVM_score=-0.978;MetaSVM_rankscore=0.355;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_rankscore=0.387;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.047;CADD_raw_rankscore=0.426;CADD_phred=22.4;DANN_score=0.991;DANN_rankscore=0.510;fathmm-MKL_coding_score=0.743;fathmm-MKL_coding_rankscore=0.361;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.334;Eigen-PC-raw=-0.217;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=0.524;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.057;SiPhy_29way_logOdds_rankscore=0.296;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0289;ExAC_nontcga_NFE=0.0160;ExAC_nontcga_OTH=0.0112;ExAC_nontcga_SAS=0.0063;AF=0.0130;AF_popmax=0.0168;AF_male=0.0142;AF_female=0.0115;AF_raw=0.0131;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0302;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0115134;Kaviar_AC=1780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.081705;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274650 rs140231303 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13894;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1338T:p.V446V,DMPK:NM_001081563:exon12:c.C1635T:p.V545V,DMPK:NM_001081560:exon13:c.C1590T:p.V530V,DMPK:NM_001081562:exon13:c.C1590T:p.V530V,DMPK:NM_004409:exon13:c.C1605T:p.V535V,DMPK:NM_001288764:exon14:c.C1683T:p.V561V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140231303;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.598e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.859e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000752|hsa-miR-328-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.142812;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274701 rs201338891 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14013;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201338891;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.654e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.875e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520271|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.172526;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46274972 rs915915 A C 100 PASS AC=110;AF=0.576078;AN=214;NS=2504;DP=14432;EAS_AF=0.629;AMR_AF=0.6556;AFR_AF=0.5545;EUR_AF=0.4652;SAS_AF=0.6084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.576078;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs915915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4529;ExAC_nontcga_ALL=0.5267;ExAC_nontcga_AFR=0.5292;ExAC_nontcga_AMR=0.7024;ExAC_nontcga_EAS=0.6557;ExAC_nontcga_FIN=0.4522;ExAC_nontcga_NFE=0.4603;ExAC_nontcga_OTH=0.4673;ExAC_nontcga_SAS=0.5929;AF=0.4936;AF_popmax=0.6467;AF_male=0.5007;AF_female=0.4848;AF_raw=0.4935;AF_afr=0.5212;AF_sas=.;AF_amr=0.6333;AF_eas=0.6467;AF_nfe=0.4674;AF_fin=0.4524;AF_asj=0.3552;AF_oth=0.4852;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.488474;Kaviar_AC=75519;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.522029;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=DM1-AS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.576078;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs915915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4529;ExAC_nontcga_ALL=0.5267;ExAC_nontcga_AFR=0.5292;ExAC_nontcga_AMR=0.7024;ExAC_nontcga_EAS=0.6557;ExAC_nontcga_FIN=0.4522;ExAC_nontcga_NFE=0.4603;ExAC_nontcga_OTH=0.4673;ExAC_nontcga_SAS=0.5929;AF=0.4936;AF_popmax=0.6467;AF_male=0.5007;AF_female=0.4848;AF_raw=0.4935;AF_afr=0.5212;AF_sas=.;AF_amr=0.6333;AF_eas=0.6467;AF_nfe=0.4674;AF_fin=0.4524;AF_asj=0.3552;AF_oth=0.4852;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.488474;Kaviar_AC=75519;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110263|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.522029;ALLELE_END;VINYL_score=0 GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46275976 rs527221 G C 100 PASS AC=22;AF=0.145168;AN=214;NS=2504;DP=18162;EAS_AF=0.1796;AMR_AF=0.1902;AFR_AF=0.053;EUR_AF=0.1113;SAS_AF=0.2372;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon8:c.C1000G:p.L334V,DMPK:NM_001081563:exon9:c.C1297G:p.L433V,DMPK:NM_001081560:exon10:c.C1252G:p.L418V,DMPK:NM_001081562:exon10:c.C1252G:p.L418V,DMPK:NM_001288766:exon10:c.C1252G:p.L418V,DMPK:NM_004409:exon10:c.C1267G:p.L423V,DMPK:NM_001288764:exon11:c.C1345G:p.L449V;1000g2015aug_all=0.145168;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527221;CLNALLELEID=134350;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.368;SIFT_converted_rankscore=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.34;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.108;Polyphen2_HVAR_rankscore=0.713;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.337;LRT_pred=N;MutationTaster_score=0.085;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=2.77;MutationAssessor_score_rankscore=0.812;MutationAssessor_pred=M;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.144;VEST3_rankscore=0.169;MetaSVM_score=-1.001;MetaSVM_rankscore=0.297;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.333;CADD_raw_rankscore=0.342;CADD_phred=18.38;DANN_score=0.997;DANN_rankscore=0.773;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_rankscore=0.395;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.360;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.110;phyloP100way_vertebrate_rankscore=0.498;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=11.524;SiPhy_29way_logOdds_rankscore=0.496;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1129;ExAC_nontcga_ALL=0.1499;ExAC_nontcga_AFR=0.0694;ExAC_nontcga_AMR=0.2329;ExAC_nontcga_EAS=0.1884;ExAC_nontcga_FIN=0.1425;ExAC_nontcga_NFE=0.1169;ExAC_nontcga_OTH=0.1266;ExAC_nontcga_SAS=0.2354;AF=0.1160;AF_popmax=0.1934;AF_male=0.1159;AF_female=0.1161;AF_raw=0.1162;AF_afr=0.0637;AF_sas=.;AF_amr=0.1934;AF_eas=0.1682;AF_nfe=0.1269;AF_fin=0.1392;AF_asj=0.1241;AF_oth=0.1682;non_topmed_AF_popmax=0.1988;non_neuro_AF_popmax=0.1751;non_cancer_AF_popmax=.;controls_AF_popmax=0.1870;Kaviar_AF=0.137463;Kaviar_AC=21252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809992;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46276056 rs16939 C A 100 PASS AC=110;AF=0.53754;AN=214;NS=2504;DP=17888;EAS_AF=0.627;AMR_AF=0.6499;AFR_AF=0.413;EUR_AF=0.4672;SAS_AF=0.6063;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.53754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4545;ExAC_nontcga_ALL=0.5126;ExAC_nontcga_AFR=0.4360;ExAC_nontcga_AMR=0.6821;ExAC_nontcga_EAS=0.6741;ExAC_nontcga_FIN=0.4721;ExAC_nontcga_NFE=0.4737;ExAC_nontcga_OTH=0.4542;ExAC_nontcga_SAS=0.5944;AF=0.4647;AF_popmax=0.6467;AF_male=0.4685;AF_female=0.4599;AF_raw=0.4645;AF_afr=0.4124;AF_sas=.;AF_amr=0.6309;AF_eas=0.6467;AF_nfe=0.4681;AF_fin=0.4634;AF_asj=0.3586;AF_oth=0.4787;non_topmed_AF_popmax=0.6484;non_neuro_AF_popmax=0.6467;non_cancer_AF_popmax=.;controls_AF_popmax=0.6477;Kaviar_AF=0.442232;Kaviar_AC=68370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 1|1 1|1 1|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|0 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 0|1 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 +19 46278189 rs112768469 G A 100 PASS AC=1;AF=0.00559105;AN=214;NS=2504;DP=15858;EAS_AF=0;AMR_AF=0;AFR_AF=0.0204;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112768469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0.0213;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0052;AF_popmax=0.0183;AF_male=0.0053;AF_female=0.0051;AF_raw=0.0052;AF_afr=0.0183;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0191;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001025154|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.839230;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46280783 rs146157132 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17015;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G681A:p.R227R,DMPK:NM_001081563:exon7:c.G978A:p.R326R,DMPK:NM_001081560:exon8:c.G948A:p.R316R,DMPK:NM_001081562:exon8:c.G948A:p.R316R,DMPK:NM_001288766:exon8:c.G948A:p.R316R,DMPK:NM_004409:exon8:c.G948A:p.R316R,DMPK:NM_001288764:exon9:c.G1026A:p.R342R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146157132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.469e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.853e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.673643;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon6:c.G681A:p.R227R,DMPK:NM_001081563:exon7:c.G978A:p.R326R,DMPK:NM_001081560:exon8:c.G948A:p.R316R,DMPK:NM_001081562:exon8:c.G948A:p.R316R,DMPK:NM_001288766:exon8:c.G948A:p.R316R,DMPK:NM_004409:exon8:c.G948A:p.R316R,DMPK:NM_001288764:exon9:c.G1026A:p.R342R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146157132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.469e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.853e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.673643;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46280917 rs141629958 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18041;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141629958;CLNALLELEID=438994;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0178;AF=0.0025;AF_popmax=0.0071;AF_male=0.0023;AF_female=0.0027;AF_raw=0.0025;AF_afr=0.0016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705398;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46281893 rs145501208 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15438;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon3:c.G172A:p.V58I,DMPK:NM_001081563:exon4:c.G469A:p.V157I,DMPK:NM_001081560:exon5:c.G439A:p.V147I,DMPK:NM_001081562:exon5:c.G439A:p.V147I,DMPK:NM_001288766:exon5:c.G439A:p.V147I,DMPK:NM_004409:exon5:c.G439A:p.V147I,DMPK:NM_001288764:exon6:c.G517A:p.V173I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145501208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.044;SIFT_converted_rankscore=0.433;SIFT_pred=D;Polyphen2_HDIV_score=0.905;Polyphen2_HDIV_rankscore=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.801;Polyphen2_HVAR_rankscore=0.564;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.380;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=1.73;MutationAssessor_score_rankscore=0.448;MutationAssessor_pred=L;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-0.91;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.307;VEST3_rankscore=0.367;MetaSVM_score=-0.911;MetaSVM_rankscore=0.468;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_rankscore=0.490;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.311;M-CAP_pred=T;REVEL_score=0.075;REVEL_rankscore=0.224;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.368;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.998;DANN_rankscore=0.854;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_rankscore=0.409;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.179;Eigen-PC-raw=0.241;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=4.976;phyloP100way_vertebrate_rankscore=0.633;phyloP20way_mammalian=0.925;phyloP20way_mammalian_rankscore=0.434;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.796;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.569e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.189e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.838515;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46282503 rs572634 A C 100 PASS AC=23;AF=0.122604;AN=214;NS=2504;DP=15178;EAS_AF=0.0923;AMR_AF=0.1888;AFR_AF=0.0272;EUR_AF=0.1153;SAS_AF=0.2434;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1176;ExAC_nontcga_ALL=0.1438;ExAC_nontcga_AFR=0.0483;ExAC_nontcga_AMR=0.2308;ExAC_nontcga_EAS=0.1017;ExAC_nontcga_FIN=0.1527;ExAC_nontcga_NFE=0.1222;ExAC_nontcga_OTH=0.1210;ExAC_nontcga_SAS=0.2258;AF=0.1139;AF_popmax=0.1910;AF_male=0.1123;AF_female=0.1159;AF_raw=0.1137;AF_afr=0.0479;AF_sas=.;AF_amr=0.1910;AF_eas=0.0968;AF_nfe=0.1352;AF_fin=0.1540;AF_asj=0.125;AF_oth=0.1753;non_topmed_AF_popmax=0.1963;non_neuro_AF_popmax=0.1715;non_cancer_AF_popmax=.;controls_AF_popmax=0.1829;Kaviar_AF=0.134539;Kaviar_AC=20800;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1556196|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.312514;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46282683 rs145200358 G A 100 PASS AC=3;AF=0.0127796;AN=214;NS=2504;DP=12359;EAS_AF=0.0099;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.046;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145200358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0085;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0395;AF=0.0050;AF_popmax=0.0084;AF_male=0.0049;AF_female=0.0051;AF_raw=0.0050;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0.0026;AF_nfe=0.0084;AF_fin=0;AF_asj=0.0104;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0102651;Kaviar_AC=1587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.496527;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145200358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0085;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0395;AF=0.0050;AF_popmax=0.0084;AF_male=0.0049;AF_female=0.0051;AF_raw=0.0050;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0.0026;AF_nfe=0.0084;AF_fin=0;AF_asj=0.0104;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0102651;Kaviar_AC=1587;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.496527;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 46285498 rs200832423 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8918;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001081560:exon1:c.C113T:p.A38V,DMPK:NM_001081562:exon1:c.C113T:p.A38V,DMPK:NM_001288766:exon1:c.C113T:p.A38V,DMPK:NM_004409:exon1:c.C113T:p.A38V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200832423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.494;SIFT_converted_rankscore=0.124;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.417;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.208;MutationTaster_pred=N;MutationAssessor_score=1.155;MutationAssessor_score_rankscore=0.297;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.452;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.094;MetaSVM_score=-0.894;MetaSVM_rankscore=0.486;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_rankscore=0.474;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.592;M-CAP_pred=D;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.577;CADD_raw_rankscore=0.371;CADD_phred=19.96;DANN_score=0.985;DANN_rankscore=0.417;fathmm-MKL_coding_score=0.528;fathmm-MKL_coding_rankscore=0.290;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.054;Eigen-PC-raw=0.057;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.742;integrated_fitCons_score_rankscore=0.980;integrated_confidence_value=0;GERP++_RS=4.14;GERP++_RS_rankscore=0.477;phyloP100way_vertebrate=1.544;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.952;phastCons100way_vertebrate_rankscore=0.329;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.700;SiPhy_29way_logOdds_rankscore=0.686;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.136e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110267|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1186606|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.696254;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47104678 rs201296349 C A 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=8425;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CALM3;GeneDetail.refGene=NM_005184:c.-14C>A\x3bNM_001329925:c.-6850C>A\x3bNM_001329924:c.-6850C>A\x3bNM_001329926:c.-6850C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201296349;CLNALLELEID=379605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0127;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0295;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0077;AF=0.0109;AF_popmax=0.0169;AF_male=0.0107;AF_female=0.0111;AF_raw=0.0109;AF_afr=0.0038;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0064;AF_asj=0.0423;AF_oth=0.0111;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0157;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0047218;Kaviar_AC=730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110393|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1609468|N/A|FOXP1|PAZAR,OREG1944831|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47104779 rs184847124 A C 100 PASS AC=5;AF=0.0249601;AN=214;NS=2504;DP=7688;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0239;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0249601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184847124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0151;AF_popmax=0.0239;AF_male=0.0155;AF_female=0.0146;AF_raw=0.0152;AF_afr=0.0039;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0239;AF_fin=0.0102;AF_asj=0.0276;AF_oth=0.0203;non_topmed_AF_popmax=0.0239;non_neuro_AF_popmax=0.0242;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0226295;Kaviar_AC=589;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110393|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1944831|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +19 47109011 rs3729510 T C 100 PASS AC=152;AF=0.843051;AN=214;NS=2504;DP=19069;EAS_AF=0.9484;AMR_AF=0.8184;AFR_AF=0.9274;EUR_AF=0.6819;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.843051;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6911;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7658;AF_popmax=0.9641;AF_male=0.7752;AF_female=0.7540;AF_raw=0.7654;AF_afr=0.8970;AF_sas=.;AF_amr=0.7813;AF_eas=0.9641;AF_nfe=0.6929;AF_fin=0.6770;AF_asj=0.7931;AF_oth=0.7264;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9661;Kaviar_AF=0.736207;Kaviar_AC=19162;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 +19 47109190 rs541090118 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22695;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541090118;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47111663 rs3729760 T C 100 PASS AC=152;AF=0.846446;AN=214;NS=2504;DP=21569;EAS_AF=0.9484;AMR_AF=0.8112;AFR_AF=0.9539;EUR_AF=0.669;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.846446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7617;AF_popmax=0.9641;AF_male=0.7714;AF_female=0.7495;AF_raw=0.7609;AF_afr=0.9178;AF_sas=.;AF_amr=0.7748;AF_eas=0.9641;AF_nfe=0.6768;AF_fin=0.6648;AF_asj=0.7862;AF_oth=0.7153;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9662;Kaviar_AF=0.140082;Kaviar_AC=21657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.846446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7617;AF_popmax=0.9641;AF_male=0.7714;AF_female=0.7495;AF_raw=0.7609;AF_afr=0.9178;AF_sas=.;AF_amr=0.7748;AF_eas=0.9641;AF_nfe=0.6768;AF_fin=0.6648;AF_asj=0.7862;AF_oth=0.7153;non_topmed_AF_popmax=0.9645;non_neuro_AF_popmax=0.9641;non_cancer_AF_popmax=.;controls_AF_popmax=0.9662;Kaviar_AF=0.140082;Kaviar_AC=21657;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|0 1|1 1|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 +19 47111722 rs577585466 CT C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=21996;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=TTT|TTT|TT|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1064795701;CLNALLELEID=410634;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0022;AF=0.0003;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007374;Kaviar_AC=114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47112159 rs202189304 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22527;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM3:NM_001329925:exon4:c.G234A:p.G78G,CALM3:NM_001329921:exon5:c.G234A:p.G78G,CALM3:NM_001329922:exon5:c.G342A:p.G114G,CALM3:NM_001329924:exon5:c.G234A:p.G78G,CALM3:NM_001329926:exon5:c.G234A:p.G78G,CALM3:NM_005184:exon5:c.G342A:p.G114G,CALM3:NM_001329923:exon6:c.G234A:p.G78G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202189304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.014e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.911e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.259635;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47112357 rs200365925 CCT C 100 PASS AC=3;AF=0.00599042;AN=214;NS=2504;DP=17914;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0.0072;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1064795202;CLNALLELEID=410636;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0251;ExAC_nontcga_ALL=0.0118;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0148;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0051;AF=0.0143;AF_popmax=0.0219;AF_male=0.0139;AF_female=0.0150;AF_raw=0.0144;AF_afr=0.0032;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0170;AF_asj=0.0103;AF_oth=0.0157;non_topmed_AF_popmax=0.0212;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.0231;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47112464 rs143416579 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19050;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CALM3;GeneDetail.refGene=NM_001329921:c.*54C>T\x3bNM_005184:c.*54C>T\x3bNM_001329925:c.*54C>T\x3bNM_001329924:c.*54C>T\x3bNM_001329926:c.*54C>T\x3bNM_001329923:c.*54C>T\x3bNM_001329922:c.*54C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143416579;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.280663;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47258674 rs3201779 C T 100 PASS AC=55;AF=0.103834;AN=214;NS=2504;DP=12649;EAS_AF=0.001;AMR_AF=0.1268;AFR_AF=0.0446;EUR_AF=0.2256;SAS_AF=0.1483;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=FKRP;GeneDetail.refGene=NM_024301:c.-34C>T\x3bNM_001039885:c.-34C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3201779;CLNALLELEID=101998;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2281;ExAC_nontcga_ALL=0.2263;ExAC_nontcga_AFR=0.0799;ExAC_nontcga_AMR=0.1167;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.2515;ExAC_nontcga_NFE=0.2908;ExAC_nontcga_OTH=0.2306;ExAC_nontcga_SAS=0.2338;AF=0.1790;AF_popmax=0.2514;AF_male=0.1780;AF_female=0.1803;AF_raw=0.1792;AF_afr=0.0622;AF_sas=.;AF_amr=0.1321;AF_eas=0.0013;AF_nfe=0.2514;AF_fin=0.2222;AF_asj=0.2674;AF_oth=0.2190;non_topmed_AF_popmax=0.2462;non_neuro_AF_popmax=0.2512;non_cancer_AF_popmax=.;controls_AF_popmax=0.2459;Kaviar_AF=0.169791;Kaviar_AC=26250;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.212121::-0.356121;Heart_Left_Ventricle=Heart_Left_Ventricle::0.213235::-0.236422;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.307915;ALLELE_END;VINYL_score=4 GT 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 +19 47258842 rs2287717 C T 100 PASS AC=32;AF=0.15016;AN=214;NS=2504;DP=13153;EAS_AF=0.1319;AMR_AF=0.1311;AFR_AF=0.1664;EUR_AF=0.1431;SAS_AF=0.1677;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A;1000g2015aug_all=0.15016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2287717;CLNALLELEID=101999;CLNDN=Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1418;ExAC_nontcga_ALL=0.1701;ExAC_nontcga_AFR=0.1799;ExAC_nontcga_AMR=0.1706;ExAC_nontcga_EAS=0.1536;ExAC_nontcga_FIN=0.1612;ExAC_nontcga_NFE=0.1644;ExAC_nontcga_OTH=0.1798;ExAC_nontcga_SAS=0.1904;AF=0.1380;AF_popmax=0.1499;AF_male=0.1368;AF_female=0.1394;AF_raw=0.1382;AF_afr=0.1499;AF_sas=.;AF_amr=0.1312;AF_eas=0.1212;AF_nfe=0.1365;AF_fin=0.1277;AF_asj=0.1379;AF_oth=0.1262;non_topmed_AF_popmax=0.1504;non_neuro_AF_popmax=0.1606;non_cancer_AF_popmax=.;controls_AF_popmax=0.1619;Kaviar_AF=0.133756;Kaviar_AC=20679;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.11553::0.290845;Heart_Left_Ventricle=Heart_Left_Ventricle::0.139706::0.211919;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.335022;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 +19 47258956 rs149030303 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=10887;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C249T:p.A83A,FKRP:NM_024301:exon4:c.C249T:p.A83A;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149030303;CLNALLELEID=102001;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0163;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0261;ExAC_nontcga_NFE=0.0225;ExAC_nontcga_OTH=0.0161;ExAC_nontcga_SAS=0.0206;AF=0.0092;AF_popmax=0.0135;AF_male=0.0090;AF_female=0.0094;AF_raw=0.0092;AF_afr=0.0023;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0138;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0133;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.529250;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47259048 rs143793528 C G 100 PASS AC=9;AF=0.0061901;AN=214;NS=2504;DP=10487;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C341G:p.A114G,FKRP:NM_024301:exon4:c.C341G:p.A114G;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143793528;CLNALLELEID=102002;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.319;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.436;LRT_pred=D;MutationTaster_score=0.893;MutationTaster_converted_rankscore=0.360;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.068;MetaSVM_score=0.924;MetaSVM_rankscore=0.960;MetaSVM_pred=D;MetaLR_score=0.904;MetaLR_rankscore=0.968;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.382;REVEL_rankscore=0.703;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.398;CADD_raw_rankscore=0.132;CADD_phred=6.593;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_rankscore=0.420;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.240;Eigen-PC-raw=-0.125;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=3.398;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.030;phastCons20way_mammalian_rankscore=0.147;SiPhy_29way_logOdds=12.451;SiPhy_29way_logOdds_rankscore=0.548;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0225;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0198;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0409;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0157;AF=0.0087;AF_popmax=0.0118;AF_male=0.0084;AF_female=0.0090;AF_raw=0.0087;AF_afr=0.0033;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0101;AF_asj=0.0172;AF_oth=0.0129;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.369872;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +19 47259134 rs148206382 C A 100 PASS AC=4;AF=0.00259585;AN=214;NS=2504;DP=9620;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C427A:p.R143S,FKRP:NM_024301:exon4:c.C427A:p.R143S;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148206382;CLNALLELEID=134503;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.576;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_rankscore=0.274;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.434;LRT_pred=D;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.394;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.75;PROVEAN_converted_rankscore=0.414;PROVEAN_pred=N;VEST3_score=0.755;VEST3_rankscore=0.762;MetaSVM_score=0.868;MetaSVM_rankscore=0.953;MetaSVM_pred=D;MetaLR_score=0.899;MetaLR_rankscore=0.967;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.689;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.067;CADD_raw_rankscore=0.196;CADD_phred=11.04;DANN_score=0.967;DANN_rankscore=0.304;fathmm-MKL_coding_score=0.674;fathmm-MKL_coding_rankscore=0.332;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.315;Eigen-PC-raw=-0.267;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.370;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.6;GERP++_RS_rankscore=0.402;phyloP100way_vertebrate=1.556;phyloP100way_vertebrate_rankscore=0.357;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=0.065;phastCons100way_vertebrate_rankscore=0.217;phastCons20way_mammalian=0.395;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=9.116;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0429;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0077;AF=0.0030;AF_popmax=0.0048;AF_male=0.0027;AF_female=0.0033;AF_raw=0.0030;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0048;AF_fin=0;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0029;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.256031;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 47259488 rs561169991 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=7066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.G781A:p.G261R,FKRP:NM_024301:exon4:c.G781A:p.G261R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561169991;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.359;SIFT_converted_rankscore=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.068;LRT_converted_rankscore=0.217;LRT_pred=N;MutationTaster_score=0.835;MutationTaster_converted_rankscore=0.350;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-5.82;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=1.45;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.429;VEST3_rankscore=0.485;MetaSVM_score=1.006;MetaSVM_rankscore=0.973;MetaSVM_pred=D;MetaLR_score=0.895;MetaLR_rankscore=0.965;MetaLR_pred=D;M-CAP_score=0.910;M-CAP_rankscore=0.993;M-CAP_pred=D;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=0.231;MutPred_rankscore=0.159;CADD_raw=1.329;CADD_raw_rankscore=0.224;CADD_phred=12.42;DANN_score=0.954;DANN_rankscore=0.262;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.654;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.326;Eigen-PC-raw=-0.174;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.16;GERP++_RS_rankscore=0.480;phyloP100way_vertebrate=5.078;phyloP100way_vertebrate_rankscore=0.640;phyloP20way_mammalian=0.824;phyloP20way_mammalian_rankscore=0.337;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=15.372;SiPhy_29way_logOdds_rankscore=0.742;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.216862;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49661112 rs3760663 G A 100 PASS AC=61;AF=0.150359;AN=214;NS=2504;DP=9583;EAS_AF=0.0565;AMR_AF=0.1542;AFR_AF=0.0378;EUR_AF=0.2674;SAS_AF=0.2761;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.-10479G>A\x3bNM_001321285:c.-13555G>A\x3bNM_001321281:c.-12G>A\x3bNM_001321282:c.-25223G>A\x3bNM_001195227:c.-12G>A\x3bNM_017636:c.-12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.150359;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3760663;CLNALLELEID=257190;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2943;ExAC_nontcga_AFR=0.0942;ExAC_nontcga_AMR=0.2222;ExAC_nontcga_EAS=0.1149;ExAC_nontcga_FIN=0.3;ExAC_nontcga_NFE=0.3047;ExAC_nontcga_OTH=0.2097;ExAC_nontcga_SAS=0.3208;AF=0.2075;AF_popmax=0.2865;AF_male=0.2036;AF_female=0.2125;AF_raw=0.2079;AF_afr=0.0676;AF_sas=.;AF_amr=0.1619;AF_eas=0.0564;AF_nfe=0.2865;AF_fin=0.2759;AF_asj=0.2586;AF_oth=0.2316;non_topmed_AF_popmax=0.2837;non_neuro_AF_popmax=0.2873;non_cancer_AF_popmax=.;controls_AF_popmax=0.2814;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.751585;ALLELE_END;VINYL_score=3 GT 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|1 1|1 1|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|1 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 1|0 +19 49661274 rs527394365 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527394365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.772546;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49661547 rs11882563 A G 100 PASS AC=29;AF=0.223642;AN=214;NS=2504;DP=14018;EAS_AF=0.2163;AMR_AF=0.2651;AFR_AF=0.3359;EUR_AF=0.1372;SAS_AF=0.1391;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11882563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1345;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.3100;ExAC_nontcga_AMR=0.3512;ExAC_nontcga_EAS=0.2369;ExAC_nontcga_FIN=0.1455;ExAC_nontcga_NFE=0.1416;ExAC_nontcga_OTH=0.1488;ExAC_nontcga_SAS=0.1398;AF=0.1923;AF_popmax=0.3070;AF_male=0.1933;AF_female=0.1909;AF_raw=0.1922;AF_afr=0.3070;AF_sas=.;AF_amr=0.3002;AF_eas=0.2283;AF_nfe=0.1320;AF_fin=0.1452;AF_asj=0.1241;AF_oth=0.1624;non_topmed_AF_popmax=0.3069;non_neuro_AF_popmax=0.3185;non_cancer_AF_popmax=.;controls_AF_popmax=0.3146;Kaviar_AF=0.173814;Kaviar_AC=26872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.598376;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +19 49661582 rs3760664 T C 100 PASS AC=180;AF=0.599441;AN=214;NS=2504;DP=13894;EAS_AF=0.3175;AMR_AF=0.6715;AFR_AF=0.5514;EUR_AF=0.8579;SAS_AF=0.638;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.599441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3760664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8564;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7562;AF_popmax=0.8594;AF_male=0.7509;AF_female=0.7627;AF_raw=0.7549;AF_afr=0.6000;AF_sas=.;AF_amr=0.7220;AF_eas=0.3403;AF_nfe=0.8594;AF_fin=0.8625;AF_asj=0.8172;AF_oth=0.8002;non_topmed_AF_popmax=0.8613;non_neuro_AF_popmax=0.8582;non_cancer_AF_popmax=.;controls_AF_popmax=0.8579;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.199773;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 +19 49669486 rs113040724 C G 100 PASS AC=1;AF=0.0319489;AN=214;NS=2504;DP=11884;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0832;EUR_AF=0.003;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113040724;CLNALLELEID=334051;CLNDN=not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0218;ExAC_nontcga_AFR=0.1025;ExAC_nontcga_AMR=0.0223;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0085;ExAC_nontcga_SAS=0.0456;AF=0.0196;AF_popmax=0.0656;AF_male=0.0204;AF_female=0.0186;AF_raw=0.0197;AF_afr=0.0656;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0103;AF_oth=0.0101;non_topmed_AF_popmax=0.0659;non_neuro_AF_popmax=0.0648;non_cancer_AF_popmax=.;controls_AF_popmax=0.0684;Kaviar_AF=0.0104074;Kaviar_AC=1609;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0113636::1.0178;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0147059::1.15294;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.912389;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671118 rs113428020 C T 100 PASS AC=1;AF=0.0207668;AN=214;NS=2504;DP=17367;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0673;EUR_AF=0.003;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113428020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.722e-05;AF_popmax=0.0003;AF_male=6.042e-05;AF_female=7.573e-05;AF_raw=0.0002;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671151 rs68004247 G A 100 PASS AC=72;AF=0.338858;AN=214;NS=2504;DP=17844;EAS_AF=0.2212;AMR_AF=0.2334;AFR_AF=0.416;EUR_AF=0.33;SAS_AF=0.4397;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.338858;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68004247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3301;ExAC_nontcga_ALL=0.3322;ExAC_nontcga_AFR=0.4160;ExAC_nontcga_AMR=0.2037;ExAC_nontcga_EAS=0.2238;ExAC_nontcga_FIN=0.3022;ExAC_nontcga_NFE=0.3313;ExAC_nontcga_OTH=0.3271;ExAC_nontcga_SAS=0.4408;AF=0.1512;AF_popmax=0.2288;AF_male=0.1558;AF_female=0.1455;AF_raw=0.1151;AF_afr=0.2288;AF_sas=.;AF_amr=0.0928;AF_eas=0.0977;AF_nfe=0.1345;AF_fin=0.1065;AF_asj=0.2941;AF_oth=0.1096;non_topmed_AF_popmax=0.2292;non_neuro_AF_popmax=0.2316;non_cancer_AF_popmax=.;controls_AF_popmax=0.2179;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 0|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 +19 49671207 rs113984787 G A 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=16487;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113984787;CLNALLELEID=222811;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.358;SIFT_converted_rankscore=0.125;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.333;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=-0.665;MutationAssessor_score_rankscore=0.020;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=0.7;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.022;VEST3_rankscore=0.008;MetaSVM_score=-0.895;MetaSVM_rankscore=0.485;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.030;REVEL_rankscore=0.073;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.454;CADD_raw_rankscore=0.138;CADD_phred=7.068;DANN_score=0.954;DANN_rankscore=0.263;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.035;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.251;Eigen-PC-raw=-1.130;GenoCanyon_score=0.979;GenoCanyon_score_rankscore=0.300;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.27;GERP++_RS_rankscore=0.274;phyloP100way_vertebrate=0.266;phyloP100way_vertebrate_rankscore=0.182;phyloP20way_mammalian=-0.166;phyloP20way_mammalian_rankscore=0.106;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.892;phastCons20way_mammalian_rankscore=0.376;SiPhy_29way_logOdds=7.937;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=.;GTEx_V6p_gene=ENSG00000130529.11;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0155;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0219;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0094;AF_popmax=0.0115;AF_male=0.0093;AF_female=0.0096;AF_raw=0.0093;AF_afr=0.0063;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0141;AF_asj=0.0143;AF_oth=0.0105;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0197151;Kaviar_AC=3048;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.049363;ALLELE_END;VINYL_score=2.5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671212 rs111783027 T G 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=16239;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.T306G:p.V102V,TRPM4:NM_017636:exon4:c.T306G:p.V102V;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111783027;CLNALLELEID=222812;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0155;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0219;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0094;AF_popmax=0.0114;AF_male=0.0093;AF_female=0.0095;AF_raw=0.0093;AF_afr=0.0063;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0141;AF_asj=0.0143;AF_oth=0.0105;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0122;non_cancer_AF_popmax=.;controls_AF_popmax=0.0201;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.096345;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671281 rs34333830 G A 100 PASS AC=12;AF=0.0910543;AN=214;NS=2504;DP=13241;EAS_AF=0.1617;AMR_AF=0.0346;AFR_AF=0.0885;EUR_AF=0.0497;SAS_AF=0.1043;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G375A:p.S125S,TRPM4:NM_017636:exon4:c.G375A:p.S125S;1000g2015aug_all=0.0910543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34333830;CLNALLELEID=334052;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0423;ExAC_nontcga_ALL=0.0638;ExAC_nontcga_AFR=0.0831;ExAC_nontcga_AMR=0.0403;ExAC_nontcga_EAS=0.1582;ExAC_nontcga_FIN=0.0309;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0621;ExAC_nontcga_SAS=0.0819;AF=0.0582;AF_popmax=0.1617;AF_male=0.0613;AF_female=0.0544;AF_raw=0.0584;AF_afr=0.0800;AF_sas=.;AF_amr=0.0532;AF_eas=0.1617;AF_nfe=0.0406;AF_fin=0.0328;AF_asj=0.1552;AF_oth=0.0460;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1617;non_cancer_AF_popmax=.;controls_AF_popmax=0.1553;Kaviar_AF=0.060355;Kaviar_AC=9331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.429518;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671482 rs143719682 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15801;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143719682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0053;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0022;AF=0.0024;AF_popmax=0.0039;AF_male=0.0025;AF_female=0.0022;AF_raw=0.0024;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0009;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0033764;Kaviar_AC=522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671507 rs78444754 G A 100 PASS AC=2;AF=0.0119808;AN=214;NS=2504;DP=16542;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0239;SAS_AF=0.0327;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78444754;CLNALLELEID=243373;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0257;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0087;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0283;ExAC_nontcga_NFE=0.0227;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0347;AF=0.0201;AF_popmax=0.0294;AF_male=0.0188;AF_female=0.0218;AF_raw=0.0202;AF_afr=0.0048;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0294;AF_fin=0.0271;AF_asj=0.0138;AF_oth=0.0277;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0295;non_cancer_AF_popmax=.;controls_AF_popmax=0.0316;Kaviar_AF=0.0203814;Kaviar_AC=3151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.899522;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671771 rs113159745 C T 100 PASS AC=6;AF=0.0159744;AN=214;NS=2504;DP=14424;EAS_AF=0.003;AMR_AF=0.0101;AFR_AF=0.0129;EUR_AF=0.0189;SAS_AF=0.0348;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113159745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0212;ExAC_nontcga_AFR=0.0149;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0361;ExAC_nontcga_NFE=0.0221;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0350;AF=0.0243;AF_popmax=0.0315;AF_male=0.0235;AF_female=0.0254;AF_raw=0.0244;AF_afr=0.0129;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0315;AF_fin=0.0349;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0372;non_neuro_AF_popmax=0.0330;non_cancer_AF_popmax=.;controls_AF_popmax=0.0578;Kaviar_AF=0.0199027;Kaviar_AC=3077;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49671893 rs201198341 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15391;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321281:exon4:c.C351T:p.F117F,TRPM4:NM_001321283:exon4:c.C174T:p.F58F,TRPM4:NM_001195227:exon6:c.C696T:p.F232F,TRPM4:NM_017636:exon6:c.C696T:p.F232F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201198341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.469685;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49671980 rs111930830 G A 100 PASS AC=6;AF=0.0157748;AN=214;NS=2504;DP=11500;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0144;EUR_AF=0.0189;SAS_AF=0.0348;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321281:exon4:c.G438A:p.K146K,TRPM4:NM_001321283:exon4:c.G261A:p.K87K,TRPM4:NM_001195227:exon6:c.G783A:p.K261K,TRPM4:NM_017636:exon6:c.G783A:p.K261K;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111930830;CLNALLELEID=222814;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0408;ExAC_nontcga_AFR=0.0293;ExAC_nontcga_AMR=0.0188;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.0443;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0482;AF=0.0245;AF_popmax=0.0313;AF_male=0.0237;AF_female=0.0255;AF_raw=0.0246;AF_afr=0.0139;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0313;AF_fin=0.0349;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0370;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0187643;Kaviar_AC=2901;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.145692;ALLELE_END;VINYL_score=3 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49674722 rs113664674 G A 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=14229;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113664674;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0128;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0058;AF_popmax=0.0081;AF_male=0.0059;AF_female=0.0057;AF_raw=0.0058;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0121;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.0058343;Kaviar_AC=902;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49674846 rs141997826 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17286;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon5:c.C21T:p.N7N,TRPM4:NM_001321281:exon6:c.C525T:p.N175N,TRPM4:NM_001321283:exon6:c.C348T:p.N116N,TRPM4:NM_001195227:exon8:c.C870T:p.N290N,TRPM4:NM_017636:exon8:c.C870T:p.N290N;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141997826;CLNALLELEID=377819;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0003;AF=0.0048;AF_popmax=0.0073;AF_male=0.0042;AF_female=0.0055;AF_raw=0.0048;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0083;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0102;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.454331;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +19 49675017 rs61732831 G T 100 PASS AC=10;AF=0.0597045;AN=214;NS=2504;DP=15276;EAS_AF=0.1617;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0417;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon5:c.G192T:p.L64L,TRPM4:NM_001321281:exon6:c.G696T:p.L232L,TRPM4:NM_001321283:exon6:c.G519T:p.L173L,TRPM4:NM_001195227:exon8:c.G1041T:p.L347L,TRPM4:NM_017636:exon8:c.G1041T:p.L347L;1000g2015aug_all=0.0597045;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61732831;CLNALLELEID=334064;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0372;ExAC_nontcga_ALL=0.0516;ExAC_nontcga_AFR=0.0074;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.1600;ExAC_nontcga_FIN=0.0338;ExAC_nontcga_NFE=0.0460;ExAC_nontcga_OTH=0.0509;ExAC_nontcga_SAS=0.0596;AF=0.0353;AF_popmax=0.1591;AF_male=0.0378;AF_female=0.0323;AF_raw=0.0354;AF_afr=0.0068;AF_sas=.;AF_amr=0.0401;AF_eas=0.1591;AF_nfe=0.0382;AF_fin=0.0329;AF_asj=0.0759;AF_oth=0.0387;non_topmed_AF_popmax=0.1598;non_neuro_AF_popmax=0.1591;non_cancer_AF_popmax=.;controls_AF_popmax=0.1524;Kaviar_AF=0.0467782;Kaviar_AC=7232;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.315756;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675038 rs137898843 G GGGGC 100 PASS AC=2;AF=0.0279553;AN=214;NS=2504;DP=15350;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0915;EUR_AF=0.005;SAS_AF=0.002;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137898843;CLNALLELEID=334065;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0827;ExAC_nontcga_AMR=0.0101;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0066;ExAC_nontcga_SAS=0.0005;AF=0.0218;AF_popmax=0.0739;AF_male=0.0230;AF_female=0.0203;AF_raw=0.0219;AF_afr=0.0739;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0741;non_neuro_AF_popmax=0.0705;non_cancer_AF_popmax=.;controls_AF_popmax=0.0717;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.801509;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675233 rs2287923 C T 100 PASS AC=12;AF=0.0914537;AN=214;NS=2504;DP=17872;EAS_AF=0.1617;AMR_AF=0.0418;AFR_AF=0.1059;EUR_AF=0.0487;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0914537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2287923;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0421;ExAC_nontcga_ALL=0.0619;ExAC_nontcga_AFR=0.1131;ExAC_nontcga_AMR=0.0415;ExAC_nontcga_EAS=0.1545;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0494;ExAC_nontcga_OTH=0.0551;ExAC_nontcga_SAS=0.0584;AF=0.0667;AF_popmax=0.1579;AF_male=0.0709;AF_female=0.0613;AF_raw=0.0667;AF_afr=0.1114;AF_sas=.;AF_amr=0.0519;AF_eas=0.1579;AF_nfe=0.0406;AF_fin=0.0329;AF_asj=0.1552;AF_oth=0.0434;non_topmed_AF_popmax=0.1585;non_neuro_AF_popmax=0.1579;non_cancer_AF_popmax=.;controls_AF_popmax=0.1516;Kaviar_AF=0.0578259;Kaviar_AC=8940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675366 rs200132598 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18131;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:exon7:c.628+1G>A\x3bNM_001321281:exon7:c.805+1G>A\x3bNM_001321282:exon8:UTR5\x3bNM_001195227:exon9:c.1150+1G>A\x3bNM_017636:exon9:c.1150+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200132598;CLNALLELEID=513378;CLNDN=Progressive_familial_heart_block_type_1B|not_provided;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.520;CADD_raw_rankscore=0.605;CADD_phred=24.3;DANN_score=0.994;DANN_rankscore=0.609;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.929;Eigen-PC-raw=0.719;GenoCanyon_score=0.473;GenoCanyon_score_rankscore=0.207;integrated_fitCons_score=0.099;integrated_fitCons_score_rankscore=0.020;integrated_confidence_value=0;GERP++_RS=3.92;GERP++_RS_rankscore=0.444;phyloP100way_vertebrate=2.407;phyloP100way_vertebrate_rankscore=0.440;phyloP20way_mammalian=0.882;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.935;phastCons20way_mammalian_rankscore=0.408;SiPhy_29way_logOdds=13.313;SiPhy_29way_logOdds_rankscore=0.597;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.936;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.192e-05;AF_popmax=6.493e-05;AF_male=0;AF_female=7.199e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.493e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.216093;ALLELE_END;VINYL_score=14 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675439 rs559459336 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18902;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559459336;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0012;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49675456 rs74599428 C T 100 PASS AC=6;AF=0.00599042;AN=214;NS=2504;DP=19251;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0189;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74599428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0212;AF_popmax=0.0317;AF_male=0.0201;AF_female=0.0226;AF_raw=0.0214;AF_afr=0.0025;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0317;AF_fin=0.0343;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.0376;non_neuro_AF_popmax=0.0331;non_cancer_AF_popmax=.;controls_AF_popmax=0.0584;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0246212::-0.579041;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0183824::-0.81429;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49684586 rs11668638 T A 100 PASS AC=5;AF=0.0145767;AN=214;NS=2504;DP=16021;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0008;EUR_AF=0.0537;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11668638;CLNALLELEID=376628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0581;ExAC_nontcga_ALL=0.0372;ExAC_nontcga_AFR=0.0091;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0638;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0075;AF=0.0438;AF_popmax=0.0642;AF_male=0.0436;AF_female=0.0440;AF_raw=0.0440;AF_afr=0.0093;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0642;AF_fin=0.0608;AF_asj=0.0382;AF_oth=0.0564;non_topmed_AF_popmax=0.0657;non_neuro_AF_popmax=0.0639;non_cancer_AF_popmax=.;controls_AF_popmax=0.0663;Kaviar_AF=0.0405752;Kaviar_AC=6273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.03125::0.616075;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49684787 rs553474484 CTTTTTTTTTT C 100 PASS AC=6;AF=0.0181709;AN=214;NS=2504;DP=15573;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.028;EUR_AF=0.0189;SAS_AF=0.0276;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553474484;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0304;AF_popmax=0.0367;AF_male=0.0288;AF_female=0.0326;AF_raw=0.0224;AF_afr=0.0142;AF_sas=.;AF_amr=0.0122;AF_eas=0.0009;AF_nfe=0.0367;AF_fin=0.0989;AF_asj=0.0057;AF_oth=0.0356;non_topmed_AF_popmax=0.0471;non_neuro_AF_popmax=0.0364;non_cancer_AF_popmax=.;controls_AF_popmax=0.0783;Kaviar_AF=0.0026126;Kaviar_AC=68;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 49685794 rs146679897 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23820;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146679897;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49685865 rs201907325 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20822;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon6:c.G232A:p.A78T,TRPM4:NM_001321281:exon9:c.G949A:p.A317T,TRPM4:NM_001321283:exon9:c.G772A:p.A258T,TRPM4:NM_001195227:exon11:c.G1294A:p.A432T,TRPM4:NM_017636:exon11:c.G1294A:p.A432T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201907325;CLNALLELEID=44160;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.832;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.252;Polyphen2_HVAR_rankscore=0.688;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=3.75;MutationAssessor_score_rankscore=0.951;MutationAssessor_pred=H;FATHMM_score=-3.65;FATHMM_converted_rankscore=0.952;FATHMM_pred=D;PROVEAN_score=-3.73;PROVEAN_converted_rankscore=0.709;PROVEAN_pred=D;VEST3_score=0.931;VEST3_rankscore=0.924;MetaSVM_score=1.061;MetaSVM_rankscore=0.984;MetaSVM_pred=D;MetaLR_score=0.917;MetaLR_rankscore=0.972;MetaLR_pred=D;M-CAP_score=0.441;M-CAP_rankscore=0.942;M-CAP_pred=D;REVEL_score=0.936;REVEL_rankscore=0.986;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.830;CADD_raw_rankscore=0.927;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.739;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.662;Eigen-PC-raw=0.584;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.350;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.18;GERP++_RS_rankscore=0.483;phyloP100way_vertebrate=5.062;phyloP100way_vertebrate_rankscore=0.639;phyloP20way_mammalian=1.027;phyloP20way_mammalian_rankscore=0.646;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=13.848;SiPhy_29way_logOdds_rankscore=0.628;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352157;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49686028 rs568416785 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=20690;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.003;EUR_AF=0.0089;SAS_AF=0.0041;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TRPM4:NM_001321285:exon6:c.396_431del:p.132_144del,TRPM4:NM_001321281:exon9:c.1113_1148del:p.371_383del,TRPM4:NM_001321283:exon9:c.936_971del:p.312_324del,TRPM4:NM_001195227:exon11:c.1458_1493del:p.486_498del,TRPM4:NM_017636:exon11:c.1458_1493del:p.486_498del;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs878855029;CLNALLELEID=243379;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0080;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0110;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0.0059;AF=0.0070;AF_popmax=0.0112;AF_male=0.0072;AF_female=0.0069;AF_raw=0.0071;AF_afr=0.0020;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0063;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.200078,99.310502,99.196968,99.262524,99.302314;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49686146 rs71352737 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14381;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRPM4:NM_001321285:exon6:c.G513A:p.W171X,TRPM4:NM_001321281:exon9:c.G1230A:p.W410X,TRPM4:NM_001321283:exon9:c.G1053A:p.W351X,TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71352737;CLNALLELEID=243380;CLNDN=Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.169;CADD_raw_rankscore=0.851;CADD_phred=28.5;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.072;fathmm-MKL_coding_rankscore=0.131;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.053;Eigen-PC-raw=-0.370;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-0.786;GERP++_RS_rankscore=0.103;phyloP100way_vertebrate=0.670;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=0.143;phyloP20way_mammalian_rankscore=0.228;phastCons100way_vertebrate=0.010;phastCons100way_vertebrate_rankscore=0.182;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=4.739;SiPhy_29way_logOdds_rankscore=0.123;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0014;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0016;AF_raw=0.0014;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0052;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0013195;Kaviar_AC=204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.104700;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49691870 rs112004068 C T 100 PASS AC=3;AF=0.00878594;AN=214;NS=2504;DP=19121;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0023;EUR_AF=0.008;SAS_AF=0.0286;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112004068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0120;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0271;AF=0.0060;AF_popmax=0.0060;AF_male=0.0061;AF_female=0.0060;AF_raw=0.0060;AF_afr=0.0044;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0060;AF_fin=0.0092;AF_asj=0.0276;AF_oth=0.0138;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0078136;Kaviar_AC=1208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49691871 rs182984782 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19045;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182984782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0043;AF=0.0017;AF_popmax=0.0027;AF_male=0.0022;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0022251;Kaviar_AC=344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +19 49691898 rs172149856 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18948;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon8:c.G682A:p.G228S,TRPM4:NM_001321281:exon11:c.G1399A:p.G467S,TRPM4:NM_001321283:exon11:c.G1222A:p.G408S,TRPM4:NM_001321282:exon12:c.G136A:p.G46S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,TRPM4:NM_017636:exon13:c.G1744A:p.G582S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs172149856;CLNALLELEID=44159;CLNDN=Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.54;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.404;Polyphen2_HDIV_rankscore=0.331;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.141;Polyphen2_HVAR_rankscore=0.346;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.308;LRT_pred=N;MutationTaster_score=0.874;MutationTaster_converted_rankscore=0.307;MutationTaster_pred=N;MutationAssessor_score=2.26;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=-0.69;FATHMM_converted_rankscore=0.727;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.829;MetaSVM_score=-0.521;MetaSVM_rankscore=0.679;MetaSVM_pred=T;MetaLR_score=0.278;MetaLR_rankscore=0.650;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.675;M-CAP_pred=D;REVEL_score=0.346;REVEL_rankscore=0.671;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.616;CADD_raw_rankscore=0.376;CADD_phred=20.3;DANN_score=0.981;DANN_rankscore=0.379;fathmm-MKL_coding_score=0.849;fathmm-MKL_coding_rankscore=0.437;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.047;Eigen-PC-raw=0.022;GenoCanyon_score=0.046;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=4.467;phyloP100way_vertebrate_rankscore=0.596;phyloP20way_mammalian=1.030;phyloP20way_mammalian_rankscore=0.653;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.715;phastCons20way_mammalian_rankscore=0.313;SiPhy_29way_logOdds=11.838;SiPhy_29way_logOdds_rankscore=0.514;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0689;dbscSNV_RF_SCORE=0.292;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005239;Kaviar_AC=81;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.382074;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49692171 rs201510836 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19236;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201510836;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.185e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49692373 rs1175791 C G 100 PASS AC=64;AF=0.34365;AN=214;NS=2504;DP=17246;EAS_AF=0.247;AMR_AF=0.2507;AFR_AF=0.4539;EUR_AF=0.325;SAS_AF=0.3793;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1175791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3220;ExAC_nontcga_ALL=0.3216;ExAC_nontcga_AFR=0.4436;ExAC_nontcga_AMR=0.2204;ExAC_nontcga_EAS=0.2581;ExAC_nontcga_FIN=0.2679;ExAC_nontcga_NFE=0.3180;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.3886;AF=0.3298;AF_popmax=0.4435;AF_male=0.3318;AF_female=0.3273;AF_raw=0.3303;AF_afr=0.4435;AF_sas=.;AF_amr=0.2459;AF_eas=0.2490;AF_nfe=0.2948;AF_fin=0.2723;AF_asj=0.3724;AF_oth=0.2694;non_topmed_AF_popmax=0.4426;non_neuro_AF_popmax=0.4518;non_cancer_AF_popmax=.;controls_AF_popmax=0.4503;Kaviar_AF=0.312984;Kaviar_AC=48388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 1|1 1|0 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 +19 49694029 rs145847114 G A 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=18239;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0112;AA=N|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon11:c.G1147A:p.G383R,TRPM4:NM_001321281:exon14:c.G1864A:p.G622R,TRPM4:NM_001321283:exon14:c.G1687A:p.G563R,TRPM4:NM_001321282:exon15:c.G601A:p.G201R,TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,TRPM4:NM_017636:exon16:c.G2209A:p.G737R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145847114;CLNALLELEID=471078;CLNDN=Progressive_familial_heart_block_type_1B|not_specified;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.351;SIFT_converted_rankscore=0.315;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=B;LRT_score=0.559;LRT_converted_rankscore=0.113;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=N;MutationAssessor_score=1.215;MutationAssessor_score_rankscore=0.307;MutationAssessor_pred=L;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=-0.86;PROVEAN_converted_rankscore=0.234;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.041;MetaSVM_score=-0.784;MetaSVM_rankscore=0.561;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.018;CADD_raw_rankscore=0.031;CADD_phred=0.015;DANN_score=0.390;DANN_rankscore=0.026;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_rankscore=0.036;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.654;Eigen-PC-raw=-1.802;GenoCanyon_score=0.074;GenoCanyon_score_rankscore=0.157;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-7.16;GERP++_RS_rankscore=0.014;phyloP100way_vertebrate=-0.841;phyloP100way_vertebrate_rankscore=0.044;phyloP20way_mammalian=-1.500;phyloP20way_mammalian_rankscore=0.010;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.016;phastCons20way_mammalian_rankscore=0.126;SiPhy_29way_logOdds=5.659;SiPhy_29way_logOdds_rankscore=0.168;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0076;AF=0.0017;AF_popmax=0.0035;AF_male=0.0016;AF_female=0.0018;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0029;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019663;Kaviar_AC=304;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662850;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +19 49699866 rs3745301 C T 100 PASS AC=16;AF=0.11242;AN=214;NS=2504;DP=12696;EAS_AF=0.1875;AMR_AF=0.0648;AFR_AF=0.1384;EUR_AF=0.0577;SAS_AF=0.09;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon12:c.C1318T:p.L440L,TRPM4:NM_001321281:exon15:c.C2035T:p.L679L,TRPM4:NM_001321283:exon15:c.C1858T:p.L620L,TRPM4:NM_001321282:exon16:c.C772T:p.L258L,TRPM4:NM_017636:exon17:c.C2380T:p.L794L;1000g2015aug_all=0.11242;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3745301;CLNALLELEID=350218;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.1033;ExAC_nontcga_AFR=0.1391;ExAC_nontcga_AMR=0.1508;ExAC_nontcga_EAS=0.3139;ExAC_nontcga_FIN=0.1358;ExAC_nontcga_NFE=0.1031;ExAC_nontcga_OTH=0.0662;ExAC_nontcga_SAS=0.0640;AF=0.0741;AF_popmax=0.1860;AF_male=0.0783;AF_female=0.0689;AF_raw=0.0743;AF_afr=0.1208;AF_sas=.;AF_amr=0.0778;AF_eas=0.1860;AF_nfe=0.0464;AF_fin=0.0337;AF_asj=0.1379;AF_oth=0.0450;non_topmed_AF_popmax=0.1854;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1850;Kaviar_AF=0.0482982;Kaviar_AC=7467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000101|hsa-miR-103a-3p|Experimental,MIMAT0000104|hsa-miR-107|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.734596;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49700017 rs200038418 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=11065;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon12:c.G1469A:p.G490D,TRPM4:NM_001321281:exon15:c.G2186A:p.G729D,TRPM4:NM_001321283:exon15:c.G2009A:p.G670D,TRPM4:NM_001321282:exon16:c.G923A:p.G308D,TRPM4:NM_017636:exon17:c.G2531A:p.G844D;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200038418;CLNALLELEID=44162;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.918;Polyphen2_HDIV_rankscore=0.488;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.604;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=0.4;FATHMM_converted_rankscore=0.573;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.146;PROVEAN_pred=N;VEST3_score=0.749;VEST3_rankscore=0.744;MetaSVM_score=-0.861;MetaSVM_rankscore=0.512;MetaSVM_pred=T;MetaLR_score=0.162;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=0.029;M-CAP_rankscore=0.518;M-CAP_pred=D;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.333;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.996;DANN_rankscore=0.725;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.321;Eigen-PC-raw=-0.482;GenoCanyon_score=0.040;GenoCanyon_score_rankscore=0.144;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-1.59;GERP++_RS_rankscore=0.080;phyloP100way_vertebrate=0.108;phyloP100way_vertebrate_rankscore=0.151;phyloP20way_mammalian=0.006;phyloP20way_mammalian_rankscore=0.137;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.087;phastCons20way_mammalian_rankscore=0.184;SiPhy_29way_logOdds=11.559;SiPhy_29way_logOdds_rankscore=0.498;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.390722;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49703799 rs182435716 T G 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=10669;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182435716;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0063;AF_male=0.0048;AF_female=0.0050;AF_raw=0.0049;AF_afr=0.0007;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0090;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49713732 rs192781092 G A 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49714732 rs7256050 C G 100 PASS AC=3;AF=0.0203674;AN=214;NS=2504;DP=17606;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0598;EUR_AF=0.006;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0203674;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7256050;CLNALLELEID=377592;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0477;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0083;AF=0.0163;AF_popmax=0.0514;AF_male=0.0172;AF_female=0.0152;AF_raw=0.0163;AF_afr=0.0514;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0003;AF_asj=0.0103;AF_oth=0.0009;non_topmed_AF_popmax=0.0513;non_neuro_AF_popmax=0.0550;non_cancer_AF_popmax=.;controls_AF_popmax=0.0486;Kaviar_AF=0.0081047;Kaviar_AC=1253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000592527|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1729593|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.824986;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 49714839 rs192428881 C T 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=15964;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.*84C>T\x3bNM_001321285:c.*84C>T\x3bNM_001321281:c.*84C>T\x3bNM_001321282:c.*84C>T\x3bNM_001195227:c.*84C>T\x3bNM_017636:c.*84C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192428881;CLNALLELEID=350226;CLNDN=Progressive_familial_heart_block;CLNDISDB=MedGen:CN230454,Orphanet:ORPHA871;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0017;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0022;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0026;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000592527|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +19 49714878 rs554934250 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16127;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.*123T>A\x3bNM_001321285:c.*123T>A\x3bNM_001321281:c.*123T>A\x3bNM_001321282:c.*123T>A\x3bNM_001195227:c.*123T>A\x3bNM_017636:c.*123T>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554934250;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000592527|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55665349 rs142495802 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15937;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142495802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0047;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0020;AF_fin=0;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0012807;Kaviar_AC=198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55665410 rs3729841 C T 100 PASS AC=20;AF=0.0477236;AN=214;NS=2504;DP=16122;EAS_AF=0.0565;AMR_AF=0.0346;AFR_AF=0.003;EUR_AF=0.0626;SAS_AF=0.093;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729841;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0658;ExAC_nontcga_ALL=0.0661;ExAC_nontcga_AFR=0.0120;ExAC_nontcga_AMR=0.0323;ExAC_nontcga_EAS=0.0433;ExAC_nontcga_FIN=0.0631;ExAC_nontcga_NFE=0.0724;ExAC_nontcga_OTH=0.0933;ExAC_nontcga_SAS=0.1065;AF=0.0484;AF_popmax=0.0644;AF_male=0.0474;AF_female=0.0496;AF_raw=0.0488;AF_afr=0.0117;AF_sas=.;AF_amr=0.0425;AF_eas=0.0474;AF_nfe=0.0644;AF_fin=0.0600;AF_asj=0.0793;AF_oth=0.0756;non_topmed_AF_popmax=0.0648;non_neuro_AF_popmax=0.0629;non_cancer_AF_popmax=.;controls_AF_popmax=0.0604;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.946490;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55665584 rs7252610 A C 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18442;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7252610;CLNALLELEID=45542;CLNDN=Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0052;dbscSNV_RF_SCORE=0.15;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9998;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938261;Kaviar_AC=145057;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026301|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.896030;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +19 55666036 rs577443061 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18737;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577443061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026302|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.325848;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +19 55666281 rs571949023 C G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14157;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571949023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0043;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0004;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001026302|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55667500 rs2288528 A T 100 PASS AC=1;AF=0.137181;AN=214;NS=2504;DP=11055;EAS_AF=0.2034;AMR_AF=0.2651;AFR_AF=0.0877;EUR_AF=0.0159;SAS_AF=0.1697;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137181;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288528;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0566;AF_popmax=0.2991;AF_male=0.0586;AF_female=0.0540;AF_raw=0.0565;AF_afr=0.0637;AF_sas=.;AF_amr=0.2991;AF_eas=0.2099;AF_nfe=0.0280;AF_fin=0.0354;AF_asj=0.0483;AF_oth=0.0655;non_topmed_AF_popmax=0.3045;non_neuro_AF_popmax=0.2653;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.735592;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +19 55667647 rs3729711 C A 100 PASS AC=21;AF=0.0227636;AN=214;NS=2504;DP=9750;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0023;EUR_AF=0.0696;SAS_AF=0.0215;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0227636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729711;CLNALLELEID=52536;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.843;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.934;DANN_rankscore=0.226;fathmm-MKL_coding_score=0.656;fathmm-MKL_coding_rankscore=0.325;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.792;Eigen-PC-raw=2.563;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.726;integrated_fitCons_score_rankscore=0.872;integrated_confidence_value=0;GERP++_RS=2.15;GERP++_RS_rankscore=0.265;phyloP100way_vertebrate=0.100;phyloP100way_vertebrate_rankscore=0.150;phyloP20way_mammalian=0.024;phyloP20way_mammalian_rankscore=0.147;phastCons100way_vertebrate=0.072;phastCons100way_vertebrate_rankscore=0.219;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=3.418;SiPhy_29way_logOdds_rankscore=0.069;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0505;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0147;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0951;ExAC_nontcga_NFE=0.0653;ExAC_nontcga_OTH=0.0484;ExAC_nontcga_SAS=0.0237;AF=0.0419;AF_popmax=0.0549;AF_male=0.0391;AF_female=0.0455;AF_raw=0.0419;AF_afr=0.0096;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0549;AF_fin=0.0882;AF_asj=0.0276;AF_oth=0.0414;non_topmed_AF_popmax=0.0568;non_neuro_AF_popmax=0.0534;non_cancer_AF_popmax=.;controls_AF_popmax=0.0527;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.960088;ALLELE_END;VINYL_score=3 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +19 55667871 rs547135585 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11177;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547135585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.573e-05;AF_popmax=6.494e-05;AF_male=0.0001;AF_female=7.193e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR,OREG1909172|N/A|STAT1|PAZAR,OREG0396464|N/A|EGR1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.867355;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +19 55667958 rs73617692 C T 100 PASS AC=2;AF=0.076877;AN=214;NS=2504;DP=12499;EAS_AF=0.005;AMR_AF=0.0375;AFR_AF=0.261;EUR_AF=0.005;SAS_AF=0.0041;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73617692;CLNALLELEID=52532;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0417;ExAC_nontcga_AFR=0.2938;ExAC_nontcga_AMR=0.0618;ExAC_nontcga_EAS=0.0081;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0069;ExAC_nontcga_SAS=0.0047;AF=0.0671;AF_popmax=0.2334;AF_male=0.0694;AF_female=0.0642;AF_raw=0.0672;AF_afr=0.2334;AF_sas=.;AF_amr=0.0189;AF_eas=0.0026;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.2329;non_neuro_AF_popmax=0.2425;non_cancer_AF_popmax=.;controls_AF_popmax=0.2412;Kaviar_AF=0.0168627;Kaviar_AC=2607;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.154740;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668105 rs545478703 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12250;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545478703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937105;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668116 rs559089270 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12221;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559089270;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.19e-05;AF_popmax=6.496e-05;AF_male=5.73e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.496e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.361e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518091|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855055;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668397 rs3729837 C T 100 PASS AC=20;AF=0.0477236;AN=214;NS=2504;DP=12057;EAS_AF=0.0565;AMR_AF=0.0346;AFR_AF=0.003;EUR_AF=0.0626;SAS_AF=0.093;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0477236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729837;CLNALLELEID=257236;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0622;ExAC_nontcga_ALL=0.1089;ExAC_nontcga_AFR=0.0170;ExAC_nontcga_AMR=0.0986;ExAC_nontcga_EAS=0.0498;ExAC_nontcga_FIN=0.1704;ExAC_nontcga_NFE=0.1308;ExAC_nontcga_OTH=0.1292;ExAC_nontcga_SAS=0.1215;AF=0.0488;AF_popmax=0.065;AF_male=0.0482;AF_female=0.0495;AF_raw=0.0489;AF_afr=0.0118;AF_sas=.;AF_amr=0.0426;AF_eas=0.0482;AF_nfe=0.065;AF_fin=0.0602;AF_asj=0.0793;AF_oth=0.0756;non_topmed_AF_popmax=0.0654;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0492814;Kaviar_AC=7619;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.853733;ALLELE_END;VINYL_score=2 GT 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55668509 rs3729836 A T 100 PASS AC=51;AF=0.458067;AN=214;NS=2504;DP=12544;EAS_AF=0.4395;AMR_AF=0.4337;AFR_AF=0.6899;EUR_AF=0.1909;SAS_AF=0.456;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.458067;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729836;CLNALLELEID=52541;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0021;dbscSNV_RF_SCORE=0.14;esp6500siv2_ea=0.1948;ExAC_nontcga_ALL=0.3622;ExAC_nontcga_AFR=0.6414;ExAC_nontcga_AMR=0.5772;ExAC_nontcga_EAS=0.4664;ExAC_nontcga_FIN=0.3017;ExAC_nontcga_NFE=0.2447;ExAC_nontcga_OTH=0.3610;ExAC_nontcga_SAS=0.4446;AF=0.3384;AF_popmax=0.6138;AF_male=0.3431;AF_female=0.3325;AF_raw=0.3387;AF_afr=0.6138;AF_sas=.;AF_amr=0.4303;AF_eas=0.4408;AF_nfe=0.1971;AF_fin=0.2349;AF_asj=0.2103;AF_oth=0.2943;non_topmed_AF_popmax=0.6148;non_neuro_AF_popmax=0.6156;non_cancer_AF_popmax=.;controls_AF_popmax=0.6215;Kaviar_AF=0.283651;Kaviar_AC=43853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.869269;ALLELE_END;VINYL_score=2 GT 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 +19 55668819 rs11667847 A G 100 PASS AC=48;AF=0.247204;AN=214;NS=2504;DP=14846;EAS_AF=0.2321;AMR_AF=0.1311;AFR_AF=0.3525;EUR_AF=0.17;SAS_AF=0.2822;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11667847;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2176;AF_popmax=0.3268;AF_male=0.2178;AF_female=0.2173;AF_raw=0.2180;AF_afr=0.3268;AF_sas=.;AF_amr=0.1147;AF_eas=0.2270;AF_nfe=0.1668;AF_fin=0.1988;AF_asj=0.1586;AF_oth=0.2056;non_topmed_AF_popmax=0.3278;non_neuro_AF_popmax=0.3269;non_cancer_AF_popmax=.;controls_AF_popmax=0.3333;Kaviar_AF=0.0364032;Kaviar_AC=5628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0604679|N/A|ELF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.801440;ALLELE_END;VINYL_score=3 GT 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +19 55668848 rs3729708 G C 100 PASS AC=25;AF=0.0716853;AN=214;NS=2504;DP=14761;EAS_AF=0.0298;AMR_AF=0.0576;AFR_AF=0.1596;EUR_AF=0.0656;SAS_AF=0.0123;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0716853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0679;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0832;AF_popmax=0.1520;AF_male=0.0834;AF_female=0.0831;AF_raw=0.0833;AF_afr=0.1520;AF_sas=.;AF_amr=0.0556;AF_eas=0.0451;AF_nfe=0.0613;AF_fin=0.0404;AF_asj=0.0655;AF_oth=0.0626;non_topmed_AF_popmax=0.1524;non_neuro_AF_popmax=0.1542;non_cancer_AF_popmax=.;controls_AF_popmax=0.1562;Kaviar_AF=0.0136674;Kaviar_AC=2113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000111601|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.637312;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55668992 rs3729707 G T 100 PASS AC=2;AF=0.076877;AN=214;NS=2504;DP=13541;EAS_AF=0.005;AMR_AF=0.0375;AFR_AF=0.261;EUR_AF=0.005;SAS_AF=0.0041;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-35C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729707;CLNALLELEID=141390;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0234;ExAC_nontcga_AFR=0.2400;ExAC_nontcga_AMR=0.0156;ExAC_nontcga_EAS=0.0024;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0052;AF=0.0669;AF_popmax=0.2326;AF_male=0.0694;AF_female=0.0636;AF_raw=0.0672;AF_afr=0.2326;AF_sas=.;AF_amr=0.0189;AF_eas=0.0026;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.2321;non_neuro_AF_popmax=0.2416;non_cancer_AF_popmax=.;controls_AF_popmax=0.2408;Kaviar_AF=0.0224318;Kaviar_AC=3468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.341289;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55669004 rs202159627 G A 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=13450;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-47C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202159627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0014;AF=0.0059;AF_popmax=0.0088;AF_male=0.0060;AF_female=0.0059;AF_raw=0.0059;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0088;AF_fin=0.0061;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.562649;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +19 55669055 rs12973773 G T 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14305;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0031;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3;GeneDetail.refGene=NM_000363:c.-98C>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12973773;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0116;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0125;ExAC_nontcga_NFE=0.0177;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0021;AF=0.0084;AF_popmax=0.0127;AF_male=0.0088;AF_female=0.0078;AF_raw=0.0084;AF_afr=0.0018;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0127;AF_fin=0.0084;AF_asj=0.0069;AF_oth=0.0119;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0132576::1.01683;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531250;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 2985808 rs558515255 T C 100 PASS AC=26;AF=0.0347444;AN=214;NS=2504;DP=3408;EAS_AF=0.0188;AMR_AF=0.0548;AFR_AF=0.034;EUR_AF=0.0616;SAS_AF=0.0102;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.-16T>C\x3bNM_199454:c.-16T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558515255;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011255;Kaviar_AC=174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000000391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506430|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.562232;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 2985885 rs7413494 C G 100 PASS AC=75;AF=0.360224;AN=214;NS=2504;DP=2274;EAS_AF=0.5496;AMR_AF=0.5;AFR_AF=0.1188;EUR_AF=0.3887;SAS_AF=0.363;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7413494;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3766;ExAC_nontcga_ALL=0.4636;ExAC_nontcga_AFR=0.1854;ExAC_nontcga_AMR=0.6276;ExAC_nontcga_EAS=0.5980;ExAC_nontcga_FIN=0.5837;ExAC_nontcga_NFE=0.4487;ExAC_nontcga_OTH=0.4676;ExAC_nontcga_SAS=0.4062;AF=0.3460;AF_popmax=0.5742;AF_male=0.3407;AF_female=0.3530;AF_raw=0.3489;AF_afr=0.1557;AF_sas=.;AF_amr=0.5742;AF_eas=0.5561;AF_nfe=0.4221;AF_fin=0.5172;AF_asj=0.4265;AF_oth=0.4416;non_topmed_AF_popmax=0.5674;non_neuro_AF_popmax=0.5705;non_cancer_AF_popmax=.;controls_AF_popmax=0.6667;Kaviar_AF=0.340642;Kaviar_AC=52664;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000000391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506430|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.516698;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|1 0|1 0|1 1|0 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 +1 3102751 rs187194973 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=16003;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G100A:p.A34T,PRDM16:NM_199454:exon2:c.G100A:p.A34T;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187194973;CLNALLELEID=228413;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.923;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.148;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.439;LRT_pred=U;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.369;MutationTaster_pred=D;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=1.51;FATHMM_converted_rankscore=0.309;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=-0.788;MetaSVM_rankscore=0.559;MetaSVM_pred=T;MetaLR_score=0.165;MetaLR_rankscore=0.504;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.714;M-CAP_pred=D;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.057;CADD_raw_rankscore=0.427;CADD_phred=22.4;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.599;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.195;Eigen-PC-raw=0.145;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=5.1;GERP++_RS_rankscore=0.688;phyloP100way_vertebrate=6.847;phyloP100way_vertebrate_rankscore=0.750;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.077;phastCons20way_mammalian_rankscore=0.179;SiPhy_29way_logOdds=18.512;SiPhy_29way_logOdds_rankscore=0.908;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0010;AF=0.0025;AF_popmax=0.0036;AF_male=0.0022;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0040;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0036;Kaviar_AF=0.0020504;Kaviar_AC=317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609489;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3102852 rs199614349 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=14984;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G201A:p.P67P,PRDM16:NM_199454:exon2:c.G201A:p.P67P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199614349;CLNALLELEID=228414;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0020;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0014;AF=0.0010;AF_popmax=0.0013;AF_male=0.0009;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0013;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184902|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.777510;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3301721 rs2282198 C T 100 PASS AC=56;AF=0.340455;AN=214;NS=2504;DP=18269;EAS_AF=0.622;AMR_AF=0.3285;AFR_AF=0.0386;EUR_AF=0.2684;SAS_AF=0.5409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S;1000g2015aug_all=0.340455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2282198;CLNALLELEID=228417;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2668;ExAC_nontcga_ALL=0.3367;ExAC_nontcga_AFR=0.0794;ExAC_nontcga_AMR=0.4157;ExAC_nontcga_EAS=0.5938;ExAC_nontcga_FIN=0.3095;ExAC_nontcga_NFE=0.2708;ExAC_nontcga_OTH=0.3275;ExAC_nontcga_SAS=0.5224;AF=0.2426;AF_popmax=0.6047;AF_male=0.2428;AF_female=0.2423;AF_raw=0.2428;AF_afr=0.0775;AF_sas=.;AF_amr=0.3794;AF_eas=0.6047;AF_nfe=0.2763;AF_fin=0.3001;AF_asj=0.2655;AF_oth=0.2768;non_topmed_AF_popmax=0.6053;non_neuro_AF_popmax=0.6047;non_cancer_AF_popmax=.;controls_AF_popmax=0.6137;Kaviar_AF=0.316684;Kaviar_AC=48960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546050;ALLELE_END;VINYL_score=-1 GT 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 +1 3313213 rs116653529 G A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=14265;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116653529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0052;AF_popmax=0.0079;AF_male=0.0050;AF_female=0.0053;AF_raw=0.0052;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0017;AF_asj=0.0448;AF_oth=0.0083;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0068772;Kaviar_AC=179;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3319339 rs192554855 G A 100 PASS AC=14;AF=0.0213658;AN=214;NS=2504;DP=16674;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0045;EUR_AF=0.0616;SAS_AF=0.0266;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192554855;CLNALLELEID=365019;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0512;ExAC_nontcga_AFR=0.0111;ExAC_nontcga_AMR=0.0202;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0911;ExAC_nontcga_NFE=0.0693;ExAC_nontcga_OTH=0.0420;ExAC_nontcga_SAS=0.0412;AF=0.0540;AF_popmax=0.0753;AF_male=0.0528;AF_female=0.0555;AF_raw=0.0541;AF_afr=0.0122;AF_sas=.;AF_amr=0.0354;AF_eas=0;AF_nfe=0.0753;AF_fin=0.0821;AF_asj=0.0379;AF_oth=0.0930;non_topmed_AF_popmax=0.0783;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0907;Kaviar_AF=0.0514806;Kaviar_AC=7959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +1 3319461 rs61756439 C T 100 PASS AC=3;AF=0.0115815;AN=214;NS=2504;DP=16101;EAS_AF=0;AMR_AF=0.0519;AFR_AF=0.0023;EUR_AF=0.0129;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon6:c.C783T:p.Y261Y,PRDM16:NM_199454:exon6:c.C783T:p.Y261Y;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756439;CLNALLELEID=228422;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0150;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0669;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0183;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0076;AF=0.0100;AF_popmax=0.0507;AF_male=0.0100;AF_female=0.0099;AF_raw=0.0100;AF_afr=0.0023;AF_sas=.;AF_amr=0.0507;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0179;AF_asj=0.0103;AF_oth=0.0138;non_topmed_AF_popmax=0.0519;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0133375;Kaviar_AC=2062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.864227;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 +1 3319541 rs141374404 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15244;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon6:c.G863A:p.R288Q,PRDM16:NM_199454:exon6:c.G863A:p.R288Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141374404;CLNALLELEID=557256;CLNDN=Left_ventricular_noncompaction_8;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.72;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.85;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.115;Polyphen2_HVAR_rankscore=0.495;Polyphen2_HVAR_pred=B;LRT_score=0.105;LRT_converted_rankscore=0.197;LRT_pred=U;MutationTaster_score=0.936;MutationTaster_converted_rankscore=0.288;MutationTaster_pred=N;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=3.18;FATHMM_converted_rankscore=0.075;FATHMM_pred=T;PROVEAN_score=-0.68;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.247;VEST3_rankscore=0.305;MetaSVM_score=-1.043;MetaSVM_rankscore=0.164;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.569;M-CAP_pred=D;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.963;CADD_raw_rankscore=0.297;CADD_phred=15.98;DANN_score=0.676;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.040;Eigen-PC-raw=0.018;GenoCanyon_score=0.608;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=4.930;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.899;phastCons20way_mammalian_rankscore=0.380;SiPhy_29way_logOdds=13.218;SiPhy_29way_logOdds_rankscore=0.591;Interpro_domain=Zinc_finger_C2H2-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.807e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.694e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.116e-05;AF=3.213e-05;AF_popmax=0.0001;AF_male=5.772e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898933;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3319601 rs148238606 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 100 PASS AC=54;AF=0.35603;AN=214;NS=2504;DP=17535;EAS_AF=0.5982;AMR_AF=0.3112;AFR_AF=0.1853;EUR_AF=0.2734;SAS_AF=0.454;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238606;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1776;ExAC_nontcga_ALL=0.2270;ExAC_nontcga_AFR=0.0927;ExAC_nontcga_AMR=0.2773;ExAC_nontcga_EAS=0.4871;ExAC_nontcga_FIN=0.2173;ExAC_nontcga_NFE=0.1615;ExAC_nontcga_OTH=0.2165;ExAC_nontcga_SAS=0.3863;AF=0.2662;AF_popmax=0.6041;AF_male=0.2666;AF_female=0.2657;AF_raw=0.2603;AF_afr=0.1242;AF_sas=.;AF_amr=0.4031;AF_eas=0.6041;AF_nfe=0.2805;AF_fin=0.3381;AF_asj=0.3227;AF_oth=0.3013;non_topmed_AF_popmax=0.6047;non_neuro_AF_popmax=0.6041;non_cancer_AF_popmax=.;controls_AF_popmax=0.6141;Kaviar_AF=0.169881;Kaviar_AC=26264;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|1 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|1 0|0 1|1 +1 3321303 rs538193750 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15962;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon7:c.C885T:p.S295S,PRDM16:NM_199454:exon7:c.C885T:p.S295S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538193750;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0142;dbscSNV_RF_SCORE=0.272;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.526e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.833138;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3322049 rs370090853 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13597;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370090853;CLNALLELEID=391327;CLNDN=Left_ventricular_noncompaction_8;CLNDISDB=MedGen:C3809288,OMIM:615373;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.352e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.79e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.814e-05;AF=0.0001;AF_popmax=0.0003;AF_male=5.733e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.168282;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3327904 rs111486045 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=18231;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111486045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0269;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0098;ExAC_nontcga_SAS=0.0006;AF=0.0084;AF_popmax=0.0104;AF_male=0.0073;AF_female=0.0098;AF_raw=0.0084;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0256;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0129;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0199;Kaviar_AF=0.0043466;Kaviar_AC=672;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.695749;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3327973 rs139129844 G A 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=17437;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1212A:p.T404T,PRDM16:NM_199454:exon9:c.G1212A:p.T404T;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139129844;CLNALLELEID=228432;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0043;AF_popmax=0.0066;AF_male=0.0045;AF_female=0.0041;AF_raw=0.0043;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0029;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0039456;Kaviar_AC=610;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895594;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328358 rs870124 T C 100 PASS AC=181;AF=0.945088;AN=214;NS=2504;DP=12650;EAS_AF=0.998;AMR_AF=0.9006;AFR_AF=0.9924;EUR_AF=0.8419;SAS_AF=0.9642;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;1000g2015aug_all=0.945088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs870124;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.651;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.328;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_converted_rankscore=0.289;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=3.38;FATHMM_converted_rankscore=0.060;FATHMM_pred=T;PROVEAN_score=1.31;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.009;MetaSVM_score=-0.955;MetaSVM_rankscore=0.401;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.543;CADD_raw_rankscore=0.053;CADD_phred=0.172;DANN_score=0.663;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_rankscore=0.117;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.721;Eigen-PC-raw=-0.498;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.336;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.33;GERP++_RS_rankscore=0.756;phyloP100way_vertebrate=2.031;phyloP100way_vertebrate_rankscore=0.405;phyloP20way_mammalian=0.058;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.426;phastCons100way_vertebrate_rankscore=0.261;phastCons20way_mammalian=0.826;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=14.274;SiPhy_29way_logOdds_rankscore=0.656;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8356;ExAC_nontcga_ALL=0.8943;ExAC_nontcga_AFR=0.9723;ExAC_nontcga_AMR=0.9247;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9099;ExAC_nontcga_NFE=0.8420;ExAC_nontcga_OTH=0.8928;ExAC_nontcga_SAS=0.9508;AF=0.8986;AF_popmax=0.9994;AF_male=0.9007;AF_female=0.8958;AF_raw=0.8982;AF_afr=0.9698;AF_sas=.;AF_amr=0.9328;AF_eas=0.9994;AF_nfe=0.8435;AF_fin=0.9183;AF_asj=0.8576;AF_oth=0.8813;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=0.9989;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.876291;ALLELE_END;VINYL_score=0.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 3328499 rs371024796 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13379;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1738A:p.E580K,PRDM16:NM_199454:exon9:c.G1738A:p.E580K;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371024796;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.159;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.355;LRT_pred=U;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.239;MutationTaster_pred=N;MutationAssessor_score=1.48;MutationAssessor_score_rankscore=0.373;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.162;VEST3_rankscore=0.195;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_rankscore=0.082;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.538;M-CAP_pred=D;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.428;CADD_raw_rankscore=0.135;CADD_phred=6.853;DANN_score=0.983;DANN_rankscore=0.396;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.611;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.314;Eigen-PC-raw=-0.317;GenoCanyon_score=0.294;GenoCanyon_score_rankscore=0.191;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=6.729;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=-0.256;phyloP20way_mammalian_rankscore=0.089;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=10.141;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.937e-05;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.719e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.499e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688538;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328646 rs568518616 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13245;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G1885A:p.V629M,PRDM16:NM_199454:exon9:c.G1885A:p.V629M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568518616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.114;SIFT_converted_rankscore=0.308;SIFT_pred=T;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.525;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.122;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_converted_rankscore=0.157;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.227;MutationTaster_pred=N;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST3_score=0.088;VEST3_rankscore=0.084;MetaSVM_score=-1.077;MetaSVM_rankscore=0.080;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_rankscore=0.110;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.439;M-CAP_pred=T;REVEL_score=0.153;REVEL_rankscore=0.407;MutPred_score=0.055;MutPred_rankscore=0.001;CADD_raw=1.763;CADD_raw_rankscore=0.273;CADD_phred=14.77;DANN_score=0.992;DANN_rankscore=0.563;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.756;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.209;Eigen-PC-raw=0.221;GenoCanyon_score=0.977;GenoCanyon_score_rankscore=0.297;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.1;GERP++_RS_rankscore=0.346;phyloP100way_vertebrate=4.042;phyloP100way_vertebrate_rankscore=0.568;phyloP20way_mammalian=0.064;phyloP20way_mammalian_rankscore=0.169;phastCons100way_vertebrate=0.976;phastCons100way_vertebrate_rankscore=0.346;phastCons20way_mammalian=0.912;phastCons20way_mammalian_rankscore=0.389;SiPhy_29way_logOdds=14.916;SiPhy_29way_logOdds_rankscore=0.703;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.995e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.79e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.195e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.892011;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3328659 rs2493292 C T 100 PASS AC=48;AF=0.10603;AN=214;NS=2504;DP=13011;EAS_AF=0.006;AMR_AF=0.121;AFR_AF=0.1634;EUR_AF=0.166;SAS_AF=0.0593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;1000g2015aug_all=0.10603;GWAS=rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448;ORegAnno_REGULATORY_P=rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448;avsnp150=rs2493292;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.023;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.313;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.268;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_converted_rankscore=0.289;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=3.54;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.036;MetaSVM_score=-0.906;MetaSVM_rankscore=0.474;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.424;CADD_raw_rankscore=0.470;CADD_phred=23.0;DANN_score=0.997;DANN_rankscore=0.818;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_rankscore=0.594;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.217;Eigen-PC-raw=-0.037;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.18;GERP++_RS_rankscore=0.483;phyloP100way_vertebrate=4.653;phyloP100way_vertebrate_rankscore=0.609;phyloP20way_mammalian=0.028;phyloP20way_mammalian_rankscore=0.149;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.009;phastCons20way_mammalian_rankscore=0.108;SiPhy_29way_logOdds=14.960;SiPhy_29way_logOdds_rankscore=0.707;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1516;ExAC_nontcga_ALL=0.1287;ExAC_nontcga_AFR=0.1689;ExAC_nontcga_AMR=0.0735;ExAC_nontcga_EAS=0.0109;ExAC_nontcga_FIN=0.0971;ExAC_nontcga_NFE=0.1654;ExAC_nontcga_OTH=0.1625;ExAC_nontcga_SAS=0.0838;AF=0.1360;AF_popmax=0.1649;AF_male=0.1354;AF_female=0.1368;AF_raw=0.1364;AF_afr=0.1649;AF_sas=.;AF_amr=0.1028;AF_eas=0.0135;AF_nfe=0.1399;AF_fin=0.1063;AF_asj=0.1806;AF_oth=0.1354;non_topmed_AF_popmax=0.1652;non_neuro_AF_popmax=0.1683;non_cancer_AF_popmax=.;controls_AF_popmax=0.1702;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885826;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 +1 3329051 rs149333409 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14213;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2290A:p.V764M,PRDM16:NM_199454:exon9:c.G2290A:p.V764M;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149333409;CLNALLELEID=228446;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.075;SIFT_converted_rankscore=0.373;SIFT_pred=T;Polyphen2_HDIV_score=0.8;Polyphen2_HDIV_rankscore=0.430;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.259;Polyphen2_HVAR_rankscore=0.377;Polyphen2_HVAR_pred=B;LRT_score=0.071;LRT_converted_rankscore=0.215;LRT_pred=U;MutationTaster_score=0.920;MutationTaster_converted_rankscore=0.273;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.057;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.131;VEST3_rankscore=0.150;MetaSVM_score=-1.031;MetaSVM_rankscore=0.202;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.046;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.373;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.133;CADD_raw_rankscore=0.082;CADD_phred=1.498;DANN_score=0.982;DANN_rankscore=0.382;fathmm-MKL_coding_score=0.618;fathmm-MKL_coding_rankscore=0.313;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.349;Eigen-PC-raw=-0.349;GenoCanyon_score=0.146;GenoCanyon_score_rankscore=0.174;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.68;GERP++_RS_rankscore=0.231;phyloP100way_vertebrate=1.906;phyloP100way_vertebrate_rankscore=0.393;phyloP20way_mammalian=0.984;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=0.969;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.922;SiPhy_29way_logOdds_rankscore=0.182;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0009;AF_popmax=0.0015;AF_male=0.0007;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.001313;Kaviar_AC=203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.765136;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329182 rs549044743 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11899;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C2421T:p.I807I,PRDM16:NM_199454:exon9:c.C2421T:p.I807I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549044743;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0017;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.371e-05;AF_popmax=0.0006;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.810339;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329213 rs201904226 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=11564;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2452A:p.G818S,PRDM16:NM_199454:exon9:c.G2452A:p.G818S;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201904226;CLNALLELEID=238274;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.343;SIFT_converted_rankscore=0.240;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_converted_rankscore=0.333;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.230;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=3.52;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.208;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.348;MetaSVM_score=-1.028;MetaSVM_rankscore=0.210;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_rankscore=0.085;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.495;M-CAP_pred=D;REVEL_score=0.106;REVEL_rankscore=0.306;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.736;CADD_raw_rankscore=0.164;CADD_phred=9.063;DANN_score=0.992;DANN_rankscore=0.534;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_rankscore=0.403;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.201;Eigen-PC-raw=-0.199;GenoCanyon_score=0.781;GenoCanyon_score_rankscore=0.238;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.41;GERP++_RS_rankscore=0.380;phyloP100way_vertebrate=3.024;phyloP100way_vertebrate_rankscore=0.491;phyloP20way_mammalian=0.132;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.306;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=9.816;SiPhy_29way_logOdds_rankscore=0.398;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0054;AF=0.0015;AF_popmax=0.0025;AF_male=0.0017;AF_female=0.0012;AF_raw=0.0015;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0016041;Kaviar_AC=248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.670412;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329229 rs371654192 G C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=10688;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2468C:p.R823P,PRDM16:NM_199454:exon9:c.G2468C:p.R823P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371654192;CLNALLELEID=228448;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.942;Polyphen2_HVAR_rankscore=0.662;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=3.22;FATHMM_converted_rankscore=0.079;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.669;VEST3_rankscore=0.679;MetaSVM_score=-1.072;MetaSVM_rankscore=0.090;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.287;MetaLR_pred=T;M-CAP_score=0.124;M-CAP_rankscore=0.806;M-CAP_pred=D;REVEL_score=0.242;REVEL_rankscore=0.552;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.698;CADD_raw_rankscore=0.630;CADD_phred=24.6;DANN_score=0.994;DANN_rankscore=0.613;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.650;Eigen-PC-raw=0.586;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.32;GERP++_RS_rankscore=0.507;phyloP100way_vertebrate=6.297;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=1.035;phyloP20way_mammalian_rankscore=0.655;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.979;phastCons20way_mammalian_rankscore=0.486;SiPhy_29way_logOdds=17.156;SiPhy_29way_logOdds_rankscore=0.866;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0024;AF_popmax=0.0034;AF_male=0.0027;AF_female=0.0019;AF_raw=0.0024;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0012742;Kaviar_AC=197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.798685;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3329384 rs2493291 C T 100 PASS AC=46;AF=0.107029;AN=214;NS=2504;DP=11363;EAS_AF=0.006;AMR_AF=0.1196;AFR_AF=0.1717;EUR_AF=0.161;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.107029;GWAS=rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314;ORegAnno_REGULATORY_P=rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314;avsnp150=rs2493291;CLNALLELEID=365234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1344;ExAC_nontcga_ALL=0.2205;ExAC_nontcga_AFR=0.2556;ExAC_nontcga_AMR=0.1466;ExAC_nontcga_EAS=0.0345;ExAC_nontcga_FIN=0.2381;ExAC_nontcga_NFE=0.2509;ExAC_nontcga_OTH=0.4167;ExAC_nontcga_SAS=0.1190;AF=0.1350;AF_popmax=0.1654;AF_male=0.1345;AF_female=0.1356;AF_raw=0.1353;AF_afr=0.1654;AF_sas=.;AF_amr=0.0993;AF_eas=0.0135;AF_nfe=0.1381;AF_fin=0.1059;AF_asj=0.1793;AF_oth=0.1308;non_topmed_AF_popmax=0.1656;non_neuro_AF_popmax=0.1709;non_cancer_AF_popmax=.;controls_AF_popmax=0.1757;Kaviar_AF=0.0647469;Kaviar_AC=10010;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506439|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.800923;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 3331099 rs181889448 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=11180;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181889448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0102;AF=0.0050;AF_popmax=0.0081;AF_male=0.0050;AF_female=0.0050;AF_raw=0.0051;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0078;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0057179;Kaviar_AC=884;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.532652;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 3331192 rs573567598 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14503;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon10:c.C2672T:p.P891L,PRDM16:NM_199454:exon10:c.C2672T:p.P891L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573567598;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=2.98;FATHMM_converted_rankscore=0.094;FATHMM_pred=T;PROVEAN_score=-5.05;PROVEAN_converted_rankscore=0.837;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.707;MetaSVM_score=-1.142;MetaSVM_rankscore=0.013;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.286;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=0.451;MutPred_rankscore=0.513;CADD_raw=6.541;CADD_raw_rankscore=0.901;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.971;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.600;Eigen-PC-raw=0.607;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.94;GERP++_RS_rankscore=0.645;phyloP100way_vertebrate=7.465;phyloP100way_vertebrate_rankscore=0.798;phyloP20way_mammalian=0.834;phyloP20way_mammalian_rankscore=0.340;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=18.140;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.019e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.93e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.699868;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3334598 rs188132529 C T 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=15651;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0169;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188132529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0584;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0184;ExAC_nontcga_SAS=0.0041;AF=0.0137;AF_popmax=0.0159;AF_male=0.0130;AF_female=0.0147;AF_raw=0.0138;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0159;AF_fin=0.0420;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.0188;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0252;Kaviar_AF=0.0090749;Kaviar_AC=1403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3335162 rs190025799 A G 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=18606;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0091;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190025799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0023;AF_popmax=0.0081;AF_male=0.0024;AF_female=0.0022;AF_raw=0.0023;AF_afr=0.0081;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.504e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342109 rs41303861 G T 100 PASS AC=66;AF=0.117412;AN=214;NS=2504;DP=12919;EAS_AF=0.0179;AMR_AF=0.1398;AFR_AF=0.0991;EUR_AF=0.2217;SAS_AF=0.1217;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41303861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2125;ExAC_nontcga_ALL=0.1710;ExAC_nontcga_AFR=0.1122;ExAC_nontcga_AMR=0.0948;ExAC_nontcga_EAS=0.0214;ExAC_nontcga_FIN=0.1787;ExAC_nontcga_NFE=0.2241;ExAC_nontcga_OTH=0.2262;ExAC_nontcga_SAS=0.1427;AF=0.1604;AF_popmax=0.1958;AF_male=0.1570;AF_female=0.1647;AF_raw=0.1606;AF_afr=0.1062;AF_sas=.;AF_amr=0.1288;AF_eas=0.0238;AF_nfe=0.1958;AF_fin=0.1912;AF_asj=0.2862;AF_oth=0.1806;non_topmed_AF_popmax=0.1922;non_neuro_AF_popmax=0.1951;non_cancer_AF_popmax=.;controls_AF_popmax=0.1720;Kaviar_AF=0.167973;Kaviar_AC=25969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 +1 3342128 rs41301967 G A 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=13337;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41301967;CLNALLELEID=365137;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0118;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0150;ExAC_nontcga_SAS=0.0045;AF=0.0147;AF_popmax=0.0215;AF_male=0.0145;AF_female=0.0149;AF_raw=0.0147;AF_afr=0.0057;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0135;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0214;non_neuro_AF_popmax=0.0219;non_cancer_AF_popmax=.;controls_AF_popmax=0.0213;Kaviar_AF=0.0131434;Kaviar_AC=2032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.477051;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342364 rs11805974 C T 100 PASS AC=11;AF=0.0613019;AN=214;NS=2504;DP=3982;EAS_AF=0;AMR_AF=0.0375;AFR_AF=0.1679;EUR_AF=0.0427;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0613019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11805974;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0374;ExAC_nontcga_ALL=0.0390;ExAC_nontcga_AFR=0.1525;ExAC_nontcga_AMR=0.0245;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0401;ExAC_nontcga_OTH=0.0227;ExAC_nontcga_SAS=0.0172;AF=0.0641;AF_popmax=0.1456;AF_male=0.0652;AF_female=0.0627;AF_raw=0.0643;AF_afr=0.1456;AF_sas=.;AF_amr=0.0366;AF_eas=0;AF_nfe=0.0384;AF_fin=0.0187;AF_asj=0.0276;AF_oth=0.0451;non_topmed_AF_popmax=0.1450;non_neuro_AF_popmax=0.1454;non_cancer_AF_popmax=.;controls_AF_popmax=0.1478;Kaviar_AF=0.0397537;Kaviar_AC=6146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3342804 rs870171 G T 100 PASS AC=61;AF=0.379393;AN=214;NS=2504;DP=17315;EAS_AF=0.5238;AMR_AF=0.3444;AFR_AF=0.4387;EUR_AF=0.2753;SAS_AF=0.2822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs870171;CLNALLELEID=228464;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2724;ExAC_nontcga_ALL=0.2975;ExAC_nontcga_AFR=0.4249;ExAC_nontcga_AMR=0.2734;ExAC_nontcga_EAS=0.4828;ExAC_nontcga_FIN=0.2227;ExAC_nontcga_NFE=0.2665;ExAC_nontcga_OTH=0.2961;ExAC_nontcga_SAS=0.2917;AF=0.3184;AF_popmax=0.5143;AF_male=0.3238;AF_female=0.3116;AF_raw=0.3187;AF_afr=0.4265;AF_sas=.;AF_amr=0.3066;AF_eas=0.5143;AF_nfe=0.2639;AF_fin=0.2285;AF_asj=0.2793;AF_oth=0.2560;non_topmed_AF_popmax=0.5153;non_neuro_AF_popmax=0.5143;non_cancer_AF_popmax=.;controls_AF_popmax=0.5033;Kaviar_AF=0.292745;Kaviar_AC=45259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1896606|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 +1 3342817 rs374229851 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374229851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.188e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1896606|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 3350173 rs2493271 T C 100 PASS AC=71;AF=0.403754;AN=214;NS=2504;DP=11510;EAS_AF=0.376;AMR_AF=0.2579;AFR_AF=0.7451;EUR_AF=0.2495;SAS_AF=0.2331;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2493271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0922;AF_popmax=0.2617;AF_male=0.0940;AF_female=0.0900;AF_raw=0.1312;AF_afr=0.2617;AF_sas=.;AF_amr=0.0378;AF_eas=0.1742;AF_nfe=0.0367;AF_fin=0.0244;AF_asj=0.1055;AF_oth=0.0465;non_topmed_AF_popmax=0.2614;non_neuro_AF_popmax=0.2503;non_cancer_AF_popmax=.;controls_AF_popmax=0.2448;Kaviar_AF=0.0355041;Kaviar_AC=5489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 1|1 1|0 1|0 1|1 0|1 1|0 0|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|0 +1 3350409 rs3748837 G A 100 PASS AC=4;AF=0.0982428;AN=214;NS=2504;DP=12881;EAS_AF=0.3214;AMR_AF=0.0288;AFR_AF=0.0061;EUR_AF=0.0239;SAS_AF=0.1186;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.*34G>A\x3bNM_199454:c.*34G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3748837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0109;ExAC_nontcga_AMR=0.0494;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0339;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0540;ExAC_nontcga_SAS=0.1091;AF=0.0357;AF_popmax=0.3139;AF_male=0.0392;AF_female=0.0314;AF_raw=0.0357;AF_afr=0.0077;AF_sas=.;AF_amr=0.0354;AF_eas=0.3139;AF_nfe=0.0254;AF_fin=0.0279;AF_asj=0.0517;AF_oth=0.0294;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3139;non_cancer_AF_popmax=.;controls_AF_popmax=0.3140;Kaviar_AF=0.0558466;Kaviar_AC=8634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.118171;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRDM16;GeneDetail.refGene=NM_022114:c.*34G>A\x3bNM_199454:c.*34G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0982428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3748837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.0109;ExAC_nontcga_AMR=0.0494;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0339;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0540;ExAC_nontcga_SAS=0.1091;AF=0.0357;AF_popmax=0.3139;AF_male=0.0392;AF_female=0.0314;AF_raw=0.0357;AF_afr=0.0077;AF_sas=.;AF_amr=0.0354;AF_eas=0.3139;AF_nfe=0.0254;AF_fin=0.0279;AF_asj=0.0517;AF_oth=0.0294;non_topmed_AF_popmax=0.3151;non_neuro_AF_popmax=0.3139;non_cancer_AF_popmax=.;controls_AF_popmax=0.3140;Kaviar_AF=0.0558466;Kaviar_AC=8634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.118171;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 11905974 rs5068 A G 100 PASS AC=10;AF=0.0309505;AN=214;NS=2504;DP=20421;EAS_AF=0.002;AMR_AF=0.0072;AFR_AF=0.0242;EUR_AF=0.0656;SAS_AF=0.0511;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858;ORegAnno_REGULATORY_P=rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858;avsnp150=rs5068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0522;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0491;AF_popmax=0.0548;AF_male=0.0483;AF_female=0.0501;AF_raw=0.0491;AF_afr=0.0301;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0548;AF_fin=0.0981;AF_asj=0.0103;AF_oth=0.0551;non_topmed_AF_popmax=0.0586;non_neuro_AF_popmax=0.0548;non_cancer_AF_popmax=.;controls_AF_popmax=0.0613;Kaviar_AF=0.0091202;Kaviar_AC=1410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 11905981 rs5067 A G 100 PASS AC=24;AF=0.179113;AN=214;NS=2504;DP=20312;EAS_AF=0.0129;AMR_AF=0.1138;AFR_AF=0.4183;EUR_AF=0.1233;SAS_AF=0.1309;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5067;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1496;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1998;AF_popmax=0.4133;AF_male=0.2065;AF_female=0.1913;AF_raw=0.2002;AF_afr=0.4133;AF_sas=.;AF_amr=0.1026;AF_eas=0.0084;AF_nfe=0.1377;AF_fin=0.0786;AF_asj=0.1138;AF_oth=0.1317;non_topmed_AF_popmax=0.4143;non_neuro_AF_popmax=0.4142;non_cancer_AF_popmax=.;controls_AF_popmax=0.4134;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.694342;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +1 11905995 rs5066 C A 100 PASS AC=10;AF=0.0221645;AN=214;NS=2504;DP=19802;EAS_AF=0.001;AMR_AF=0.0231;AFR_AF=0.0045;EUR_AF=0.0467;SAS_AF=0.0419;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0355;AF_popmax=0.0513;AF_male=0.0386;AF_female=0.0316;AF_raw=0.0356;AF_afr=0.0139;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0513;AF_fin=0.0345;AF_asj=0.0552;AF_oth=0.0434;non_topmed_AF_popmax=0.0485;non_neuro_AF_popmax=0.0506;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0093272;Kaviar_AC=1442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.806134;ENSEMBLReg=Name\x3dENSR00000347430|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 11906068 rs5065 A G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +1 11906129 rs191907532 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18477;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191907532;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 11907603 rs5064 G A 100 PASS AC=14;AF=0.129593;AN=214;NS=2504;DP=18554;EAS_AF=0.0079;AMR_AF=0.0836;AFR_AF=0.3185;EUR_AF=0.0765;SAS_AF=0.0869;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=NPPA-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.129593;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5064;CLNALLELEID=45324;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0877;ExAC_nontcga_ALL=0.0879;ExAC_nontcga_AFR=0.2854;ExAC_nontcga_AMR=0.0507;ExAC_nontcga_EAS=0.0083;ExAC_nontcga_FIN=0.0432;ExAC_nontcga_NFE=0.0730;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1093;AF=0.1336;AF_popmax=0.2902;AF_male=0.1355;AF_female=0.1312;AF_raw=0.1337;AF_afr=0.2902;AF_sas=.;AF_amr=0.0731;AF_eas=0.0071;AF_nfe=0.0864;AF_fin=0.0441;AF_asj=0.0586;AF_oth=0.0846;non_topmed_AF_popmax=0.2918;non_neuro_AF_popmax=0.2957;non_cancer_AF_popmax=.;controls_AF_popmax=0.2929;Kaviar_AF=0.0886405;Kaviar_AC=13704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.101103::-0.517377;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 11907648 rs5063 C T 100 PASS AC=3;AF=0.0734824;AN=214;NS=2504;DP=18211;EAS_AF=0.1151;AMR_AF=0.0476;AFR_AF=0.0613;EUR_AF=0.0348;SAS_AF=0.1053;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NPPA:NM_006172:exon1:c.G94A:p.V32M;1000g2015aug_all=0.0734824;GWAS=rs5063|Psoriasis|1.1764705|4E-9|PMID:25854761;ORegAnno_REGULATORY_P=rs5063|Psoriasis|1.1764705|4E-9|PMID:25854761;avsnp150=rs5063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.243;SIFT_converted_rankscore=0.175;SIFT_pred=T;Polyphen2_HDIV_score=0.783;Polyphen2_HDIV_rankscore=0.424;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_rankscore=0.250;Polyphen2_HVAR_pred=B;LRT_score=0.398;LRT_converted_rankscore=0.132;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.447;MutationTaster_pred=D;MutationAssessor_score=1.84;MutationAssessor_score_rankscore=0.484;MutationAssessor_pred=L;FATHMM_score=0.77;FATHMM_converted_rankscore=0.496;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.017;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.009;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.267;CADD_raw_rankscore=0.120;CADD_phred=5.366;DANN_score=0.819;DANN_rankscore=0.135;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.909;Eigen-PC-raw=-0.986;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.368;integrated_fitCons_score=0.461;integrated_fitCons_score_rankscore=0.090;integrated_confidence_value=0;GERP++_RS=-0.381;GERP++_RS_rankscore=0.118;phyloP100way_vertebrate=-0.360;phyloP100way_vertebrate_rankscore=0.076;phyloP20way_mammalian=-1.029;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.003;phastCons100way_vertebrate_rankscore=0.159;phastCons20way_mammalian=0.015;phastCons20way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=4.595;SiPhy_29way_logOdds_rankscore=0.116;Interpro_domain=.;GTEx_V6p_gene=ENSG00000177000.6|ENSG00000011021.17|ENSG00000011021.17|ENSG00000011021.17|ENSG00000011021.17|ENSG00000177000.6|ENSG00000011021.17;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Nerve_Tibial|Whole_Blood|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0471;ExAC_nontcga_ALL=0.0575;ExAC_nontcga_AFR=0.0614;ExAC_nontcga_AMR=0.0475;ExAC_nontcga_EAS=0.1112;ExAC_nontcga_FIN=0.0254;ExAC_nontcga_NFE=0.0425;ExAC_nontcga_OTH=0.0389;ExAC_nontcga_SAS=0.0997;AF=0.0512;AF_popmax=0.1104;AF_male=0.0504;AF_female=0.0521;AF_raw=0.0512;AF_afr=0.0626;AF_sas=.;AF_amr=0.0377;AF_eas=0.1104;AF_nfe=0.0456;AF_fin=0.0305;AF_asj=0.0138;AF_oth=0.0404;non_topmed_AF_popmax=0.1086;non_neuro_AF_popmax=0.1104;non_cancer_AF_popmax=.;controls_AF_popmax=0.1015;Kaviar_AF=0.0558854;Kaviar_AC=8640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.940426;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26378362 rs77965623 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=12495;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRIM63;GeneDetail.refGene=NM_032588:c.*2G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77965623;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0037;ExAC_nontcga_SAS=0.0001;AF=0.0043;AF_popmax=0.0072;AF_male=0.0043;AF_female=0.0044;AF_raw=0.0044;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0072;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0069;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0045148;Kaviar_AC=698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26378415 rs200141975 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14606;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200141975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.111e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.051e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383618 rs1317428 C G 100 PASS AC=2;AF=0.0964457;AN=214;NS=2504;DP=18791;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.3457;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0964457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1317428;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0850;AF_popmax=0.2953;AF_male=0.0880;AF_female=0.0812;AF_raw=0.0847;AF_afr=0.2953;AF_sas=.;AF_amr=0.0296;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0269;non_topmed_AF_popmax=0.2957;non_neuro_AF_popmax=0.2942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2924;Kaviar_AF=0.0052393;Kaviar_AC=810;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383645 rs144384652 CCAGGGGT C 100 PASS AC=52;AF=0.0926518;AN=214;NS=2504;DP=21079;EAS_AF=0.005;AMR_AF=0.1297;AFR_AF=0.0068;EUR_AF=0.2694;SAS_AF=0.091;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0926518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144384652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2340;ExAC_nontcga_ALL=0.1729;ExAC_nontcga_AFR=0.0428;ExAC_nontcga_AMR=0.0975;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.2563;ExAC_nontcga_NFE=0.2398;ExAC_nontcga_OTH=0.1983;ExAC_nontcga_SAS=0.1238;AF=0.1751;AF_popmax=0.2515;AF_male=0.1718;AF_female=0.1792;AF_raw=0.1767;AF_afr=0.0381;AF_sas=.;AF_amr=0.1226;AF_eas=0.0006;AF_nfe=0.2515;AF_fin=0.2566;AF_asj=0.1944;AF_oth=0.2209;non_topmed_AF_popmax=0.2553;non_neuro_AF_popmax=0.2532;non_cancer_AF_popmax=.;controls_AF_popmax=0.2635;Kaviar_AF=0.005388;Kaviar_AC=833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 +1 26383647 rs200214717 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19684;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200214717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.158e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.809e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383700 rs199707976 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon7:c.G973C:p.G325R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199707976;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.541;SIFT_converted_rankscore=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.083;Polyphen2_HDIV_rankscore=0.232;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.358;LRT_pred=N;MutationTaster_score=0.987;MutationTaster_converted_rankscore=0.405;MutationTaster_pred=D;MutationAssessor_score=1.545;MutationAssessor_score_rankscore=0.392;MutationAssessor_pred=L;FATHMM_score=1.86;FATHMM_converted_rankscore=0.243;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_converted_rankscore=0.314;PROVEAN_pred=N;VEST3_score=0.437;VEST3_rankscore=0.492;MetaSVM_score=-1.091;MetaSVM_rankscore=0.053;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.227;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.122;M-CAP_pred=T;REVEL_score=0.040;REVEL_rankscore=0.108;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.499;CADD_raw_rankscore=0.362;CADD_phred=19.46;DANN_score=0.963;DANN_rankscore=0.288;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.716;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.178;Eigen-PC-raw=-0.024;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=1.359;phyloP100way_vertebrate_rankscore=0.335;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.581;phastCons100way_vertebrate_rankscore=0.274;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.036;SiPhy_29way_logOdds_rankscore=0.581;Interpro_domain=COS_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.818774;ALLELE_END;VINYL_score=4.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26383875 rs2275947 A G 100 PASS AC=62;AF=0.260783;AN=214;NS=2504;DP=18108;EAS_AF=0.1696;AMR_AF=0.1499;AFR_AF=0.5484;EUR_AF=0.2217;SAS_AF=0.0849;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.260783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275947;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2759;AF_popmax=0.4941;AF_male=0.2798;AF_female=0.2710;AF_raw=0.2762;AF_afr=0.4941;AF_sas=.;AF_amr=0.1639;AF_eas=0.1898;AF_nfe=0.1931;AF_fin=0.1897;AF_asj=0.1862;AF_oth=0.2123;non_topmed_AF_popmax=0.4946;non_neuro_AF_popmax=0.4938;non_cancer_AF_popmax=.;controls_AF_popmax=0.4930;Kaviar_AF=0.044883;Kaviar_AC=6939;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.214015::-0.297233;Heart_Left_Ventricle=Heart_Left_Ventricle::0.231618::0.433288;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26384013 rs12059101 A G 100 PASS AC=59;AF=0.117412;AN=214;NS=2504;DP=20825;EAS_AF=0.0556;AMR_AF=0.1052;AFR_AF=0.1248;EUR_AF=0.2157;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12059101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1690;AF_popmax=0.1902;AF_male=0.1671;AF_female=0.1714;AF_raw=0.1693;AF_afr=0.1450;AF_sas=.;AF_amr=0.1265;AF_eas=0.0580;AF_nfe=0.1902;AF_fin=0.1896;AF_asj=0.1793;AF_oth=0.1847;non_topmed_AF_popmax=0.1914;non_neuro_AF_popmax=0.1879;non_cancer_AF_popmax=.;controls_AF_popmax=0.1790;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.17803::-0.356137;Heart_Left_Ventricle=Heart_Left_Ventricle::0.196691::0.447153;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26385003 rs2275950 T C 100 PASS AC=60;AF=0.182308;AN=214;NS=2504;DP=20137;EAS_AF=0.1706;AMR_AF=0.1239;AFR_AF=0.267;EUR_AF=0.2187;SAS_AF=0.0838;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon5:c.A709G:p.K237E;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=P;MutationAssessor_score=-2.805;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=3.31;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.019;VEST3_rankscore=0.004;MetaSVM_score=-0.985;MetaSVM_rankscore=0.339;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.155;REVEL_rankscore=0.410;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.211;CADD_raw_rankscore=0.211;CADD_phred=11.80;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.908;Eigen-PC-raw=-0.560;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.447;integrated_fitCons_score_rankscore=0.083;integrated_confidence_value=0;GERP++_RS=5.5;GERP++_RS_rankscore=0.813;phyloP100way_vertebrate=2.284;phyloP100way_vertebrate_rankscore=0.429;phyloP20way_mammalian=0.016;phyloP20way_mammalian_rankscore=0.142;phastCons100way_vertebrate=0.963;phastCons100way_vertebrate_rankscore=0.335;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=14.221;SiPhy_29way_logOdds_rankscore=0.652;Interpro_domain=.;GTEx_V6p_gene=ENSG00000142675.13|ENSG00000158008.5|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142675.13|ENSG00000158006.9|ENSG00000142675.13|ENSG00000169442.4|ENSG00000158014.10|ENSG00000175087.5|ENSG00000158014.10|ENSG00000175087.5|ENSG00000142675.13|ENSG00000158022.6;GTEx_V6p_tissue=Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2165;ExAC_nontcga_ALL=0.1902;ExAC_nontcga_AFR=0.2719;ExAC_nontcga_AMR=0.0837;ExAC_nontcga_EAS=0.1940;ExAC_nontcga_FIN=0.1959;ExAC_nontcga_NFE=0.2233;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.1060;AF=0.2101;AF_popmax=0.2613;AF_male=0.2114;AF_female=0.2085;AF_raw=0.2101;AF_afr=0.2613;AF_sas=.;AF_amr=0.1481;AF_eas=0.1926;AF_nfe=0.1924;AF_fin=0.1902;AF_asj=0.1875;AF_oth=0.1939;non_topmed_AF_popmax=0.2616;non_neuro_AF_popmax=0.2604;non_cancer_AF_popmax=.;controls_AF_popmax=0.2615;Kaviar_AF=0.19232;Kaviar_AC=29733;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.189394::-0.327296;Heart_Left_Ventricle=Heart_Left_Ventricle::0.207721::0.441801;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.333441;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26385150 rs2275949 G C 100 PASS AC=60;AF=0.156749;AN=214;NS=2504;DP=21453;EAS_AF=0.1706;AMR_AF=0.1138;AFR_AF=0.1747;EUR_AF=0.2187;SAS_AF=0.0849;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.156749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2160;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.1939;ExAC_nontcga_AMR=0.0801;ExAC_nontcga_EAS=0.1938;ExAC_nontcga_FIN=0.1960;ExAC_nontcga_NFE=0.2238;ExAC_nontcga_OTH=0.1529;ExAC_nontcga_SAS=0.1096;AF=0.1890;AF_popmax=0.1923;AF_male=0.1886;AF_female=0.1893;AF_raw=0.1891;AF_afr=0.1881;AF_sas=.;AF_amr=0.1356;AF_eas=0.1909;AF_nfe=0.1923;AF_fin=0.1906;AF_asj=0.1862;AF_oth=0.1827;non_topmed_AF_popmax=0.1932;non_neuro_AF_popmax=0.1909;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.182469;Kaviar_AC=28210;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.185606::-0.316384;Heart_Left_Ventricle=Heart_Left_Ventricle::0.198529::0.428571;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 +1 26386771 rs200823488 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19146;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon4:c.C583T:p.R195C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200823488;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.944;MutationTaster_converted_rankscore=0.374;MutationTaster_pred=D;MutationAssessor_score=-3.015;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_converted_rankscore=0.437;FATHMM_pred=T;PROVEAN_score=10.96;PROVEAN_converted_rankscore=0.000;PROVEAN_pred=N;VEST3_score=0.255;VEST3_rankscore=0.311;MetaSVM_score=-0.970;MetaSVM_rankscore=0.373;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.058;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.249;M-CAP_pred=T;REVEL_score=0.110;REVEL_rankscore=0.316;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.871;CADD_raw_rankscore=0.286;CADD_phred=15.41;DANN_score=0.878;DANN_rankscore=0.170;fathmm-MKL_coding_score=0.070;fathmm-MKL_coding_rankscore=0.129;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.111;Eigen-PC-raw=-0.803;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=1.39;GERP++_RS_rankscore=0.212;phyloP100way_vertebrate=5.237;phyloP100way_vertebrate_rankscore=0.650;phyloP20way_mammalian=0.162;phyloP20way_mammalian_rankscore=0.245;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=6.104;SiPhy_29way_logOdds_rankscore=0.192;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000351410|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.755141;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26387625 rs41311276 A C 100 PASS AC=50;AF=0.11881;AN=214;NS=2504;DP=19985;EAS_AF=0.0337;AMR_AF=0.0965;AFR_AF=0.1838;EUR_AF=0.1829;SAS_AF=0.0685;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.11881;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311276;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1777;ExAC_nontcga_ALL=0.1483;ExAC_nontcga_AFR=0.1833;ExAC_nontcga_AMR=0.0749;ExAC_nontcga_EAS=0.0403;ExAC_nontcga_FIN=0.1561;ExAC_nontcga_NFE=0.1881;ExAC_nontcga_OTH=0.1321;ExAC_nontcga_SAS=0.0929;AF=0.1596;AF_popmax=0.1827;AF_male=0.1568;AF_female=0.1632;AF_raw=0.1601;AF_afr=0.1827;AF_sas=.;AF_amr=0.1061;AF_eas=0.0404;AF_nfe=0.1613;AF_fin=0.1597;AF_asj=0.1966;AF_oth=0.1543;non_topmed_AF_popmax=0.1833;non_neuro_AF_popmax=0.1755;non_cancer_AF_popmax=.;controls_AF_popmax=0.1715;Kaviar_AF=0.146182;Kaviar_AC=22600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.159926::0.448395;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 +1 26387783 rs144196126 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=20251;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon3:c.C375T:p.H125H;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144196126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0013;AF_popmax=0.0023;AF_male=0.0015;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0011449;Kaviar_AC=177;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.084419;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 26392824 rs35123100 C A 100 PASS AC=5;AF=0.0183706;AN=214;NS=2504;DP=18566;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.003;EUR_AF=0.0646;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;1000g2015aug_all=0.0183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35123100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0844;ExAC_nontcga_ALL=0.0499;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0280;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0604;ExAC_nontcga_NFE=0.0786;ExAC_nontcga_OTH=0.0462;ExAC_nontcga_SAS=0.0101;AF=0.0669;AF_popmax=0.1037;AF_male=0.0655;AF_female=0.0687;AF_raw=0.0670;AF_afr=0.0141;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.1037;AF_fin=0.0685;AF_asj=0.0655;AF_oth=0.0873;non_topmed_AF_popmax=0.1054;non_neuro_AF_popmax=0.1041;non_cancer_AF_popmax=.;controls_AF_popmax=0.1192;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0919118::-0.648815;ENSEMBLReg=Name\x3dENSR00000351413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.071261;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 26393974 rs3795690 C T 100 PASS AC=3;AF=0.0415335;AN=214;NS=2504;DP=16988;EAS_AF=0.0734;AMR_AF=0.0115;AFR_AF=0.0893;EUR_AF=0.005;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon1:c.G12A:p.K4K;1000g2015aug_all=0.0415335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795690;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0902;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0994;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0312;AF_popmax=0.1080;AF_male=0.0336;AF_female=0.0281;AF_raw=0.0313;AF_afr=0.0896;AF_sas=.;AF_amr=0.0059;AF_eas=0.1080;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.1087;non_neuro_AF_popmax=0.1080;non_cancer_AF_popmax=.;controls_AF_popmax=0.1072;Kaviar_AF=0.0153297;Kaviar_AC=2370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000351413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.728132;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74701107 rs41289180 C T 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16530;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNI3K;GeneDetail.refGene=NM_015978:c.-29C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289180;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0196;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0020;AF=0.0098;AF_popmax=0.0131;AF_male=0.0095;AF_female=0.0103;AF_raw=0.0098;AF_afr=0.0018;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0179;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0129;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74701295 rs505508 T A 100 PASS AC=214;AF=0.976837;AN=214;NS=2504;DP=15437;EAS_AF=1;AMR_AF=0.9928;AFR_AF=0.916;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.976837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9800;AF_popmax=1;AF_male=0.9779;AF_female=0.9828;AF_raw=0.9801;AF_afr=0.9293;AF_sas=.;AF_amr=0.9964;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 74701950 rs532221 T A 100 PASS AC=63;AF=0.351837;AN=214;NS=2504;DP=16692;EAS_AF=0.7401;AMR_AF=0.2997;AFR_AF=0.0605;EUR_AF=0.3201;SAS_AF=0.4151;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2880;AF_popmax=0.7287;AF_male=0.2841;AF_female=0.2929;AF_raw=0.2883;AF_afr=0.1092;AF_sas=.;AF_amr=0.3473;AF_eas=0.7287;AF_nfe=0.3152;AF_fin=0.3824;AF_asj=0.4241;AF_oth=0.3235;non_topmed_AF_popmax=0.7288;non_neuro_AF_popmax=0.7287;non_cancer_AF_popmax=.;controls_AF_popmax=0.7252;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.305118::-0.32395;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 1|0 1|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|1 0|1 0|0 0|1 0|0 1|0 1|0 +1 74716310 rs45487595 C A 100 PASS AC=1;AF=0.0692891;AN=214;NS=2504;DP=16617;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.2511;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0692891;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45487595;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.2099;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0049;ExAC_nontcga_SAS=0.0004;AF=0.0557;AF_popmax=0.1973;AF_male=0.0598;AF_female=0.0504;AF_raw=0.0558;AF_afr=0.1973;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0156;non_topmed_AF_popmax=0.1989;non_neuro_AF_popmax=0.1903;non_cancer_AF_popmax=.;controls_AF_popmax=0.1921;Kaviar_AF=0.0180205;Kaviar_AC=2786;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74716515 rs532890705;rs543878273 CT CTT,C 100 PASS AC=91,5;AF=0.383586,0.0299521;AN=214;NS=2504;DP=18693;EAS_AF=0.4772,0;AMR_AF=0.3804,0.0533;AFR_AF=0.3018,0.0204;EUR_AF=0.4085,0.0537;SAS_AF=0.3742,0.0327;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543878273;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0709;AF_popmax=0.0928;AF_male=0.0688;AF_female=0.0736;AF_raw=0.0584;AF_afr=0.0564;AF_sas=.;AF_amr=0.0928;AF_eas=0.0021;AF_nfe=0.0746;AF_fin=0.2092;AF_asj=0.0346;AF_oth=0.0921;non_topmed_AF_popmax=0.0932;non_neuro_AF_popmax=0.0833;non_cancer_AF_popmax=.;controls_AF_popmax=0.1711;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|1 0|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|2 0|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|0 0|1 0|2 0|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|1 2|0 1|0 0|0 1|0 2|0 0|1 1|0 0|1 0|0 1|0 2|0 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|1 0|0 1|0 1|0 1|0 1|1 +1 74716524 rs548378187 T C 100 PASS AC=5;AF=0.0299521;AN=214;NS=2504;DP=16493;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0.0204;EUR_AF=0.0537;SAS_AF=0.0327;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548378187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0460;AF_popmax=0.0591;AF_male=0.0445;AF_female=0.0479;AF_raw=0.0457;AF_afr=0.0229;AF_sas=.;AF_amr=0.0418;AF_eas=0.0013;AF_nfe=0.0591;AF_fin=0.0675;AF_asj=0.0207;AF_oth=0.0550;non_topmed_AF_popmax=0.0618;non_neuro_AF_popmax=0.0590;non_cancer_AF_popmax=.;controls_AF_popmax=0.0667;Kaviar_AF=0.0171738;Kaviar_AC=447;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74737269 rs200319360 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21188;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200319360;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.189e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.029e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74737274 rs45443204 C T 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=20994;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0159;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45443204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0025;AF=0.0039;AF_popmax=0.0130;AF_male=0.0041;AF_female=0.0037;AF_raw=0.0039;AF_afr=0.0021;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0052;AF_fin=0.0006;AF_asj=0.0138;AF_oth=0.0074;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.02;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0055433;Kaviar_AC=857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74801864 rs11210450 A G 100 PASS AC=9;AF=0.113019;AN=214;NS=2504;DP=16008;EAS_AF=0.1062;AMR_AF=0.0504;AFR_AF=0.1861;EUR_AF=0.0398;SAS_AF=0.1411;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.113019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11210450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0699;ExAC_nontcga_AFR=0.1690;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.0904;ExAC_nontcga_FIN=0.0513;ExAC_nontcga_NFE=0.0459;ExAC_nontcga_OTH=0.0392;ExAC_nontcga_SAS=0.1159;AF=0.0743;AF_popmax=0.1634;AF_male=0.0752;AF_female=0.0731;AF_raw=0.0747;AF_afr=0.1634;AF_sas=.;AF_amr=0.0472;AF_eas=0.0887;AF_nfe=0.0335;AF_fin=0.0450;AF_asj=0.0207;AF_oth=0.0497;non_topmed_AF_popmax=0.1631;non_neuro_AF_popmax=0.1610;non_cancer_AF_popmax=.;controls_AF_popmax=0.1605;Kaviar_AF=0.063602;Kaviar_AC=9833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +1 74801871 rs138935678 G C 100 PASS AC=5;AF=0.00339457;AN=214;NS=2504;DP=16166;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138935678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0248;ExAC_nontcga_NFE=0.0090;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0009;AF=0.0080;AF_popmax=0.0096;AF_male=0.0076;AF_female=0.0086;AF_raw=0.0080;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0096;AF_fin=0.0236;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0099;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.0061642;Kaviar_AC=953;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74801878 rs142785451 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16195;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142785451;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.783e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.428e-05;AF=0.0002;AF_popmax=0.0012;AF_male=0.0003;AF_female=7.184e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74808620 rs150107405 G C 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19180;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.G777C:p.L259F,FPGT-TNNI3K:NM_001112808:exon10:c.G1119C:p.L373F,FPGT-TNNI3K:NM_001199327:exon10:c.G1119C:p.L373F;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150107405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.6;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.220;MutationTaster_pred=N;MutationAssessor_score=0.885;MutationAssessor_score_rankscore=0.217;MutationAssessor_pred=L;FATHMM_score=2.37;FATHMM_converted_rankscore=0.160;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.111;MetaSVM_score=-0.928;MetaSVM_rankscore=0.444;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.014;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.239;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.697;CADD_raw_rankscore=0.002;CADD_phred=0.001;DANN_score=0.601;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_rankscore=0.152;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.578;Eigen-PC-raw=-1.663;GenoCanyon_score=0.177;GenoCanyon_score_rankscore=0.178;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-9.25;GERP++_RS_rankscore=0.006;phyloP100way_vertebrate=-0.974;phyloP100way_vertebrate_rankscore=0.039;phyloP20way_mammalian=-0.282;phyloP20way_mammalian_rankscore=0.084;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.093;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=0.941;SiPhy_29way_logOdds_rankscore=0.013;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0025;AF_male=0.0014;AF_female=0.0012;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.001423;Kaviar_AC=220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74808631 rs34521608 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19374;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon8:c.C788T:p.P263L,FPGT-TNNI3K:NM_001112808:exon10:c.C1130T:p.P377L,FPGT-TNNI3K:NM_001199327:exon10:c.C1130T:p.P377L;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34521608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.722;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.403;Polyphen2_HVAR_rankscore=0.662;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.055;MutationAssessor_score_rankscore=0.049;MutationAssessor_pred=N;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.582;PROVEAN_pred=N;VEST3_score=0.94;VEST3_rankscore=0.934;MetaSVM_score=-0.610;MetaSVM_rankscore=0.644;MetaSVM_pred=T;MetaLR_score=0.262;MetaLR_rankscore=0.633;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.727;M-CAP_pred=D;REVEL_score=0.378;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.184;CADD_raw_rankscore=0.700;CADD_phred=25.5;DANN_score=0.998;DANN_rankscore=0.924;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.297;Eigen-PC-raw=0.370;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.77;GERP++_RS_rankscore=0.910;phyloP100way_vertebrate=7.467;phyloP100way_vertebrate_rankscore=0.798;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.248;phastCons20way_mammalian_rankscore=0.227;SiPhy_29way_logOdds=19.993;SiPhy_29way_logOdds_rankscore=0.974;Interpro_domain=Ankyrin_repeat-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0090;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0009;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0022315;Kaviar_AC=345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.291731;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74818872 rs59924195 G A 100 PASS AC=6;AF=0.0535144;AN=214;NS=2504;DP=21309;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.1074;EUR_AF=0.0517;SAS_AF=0.0337;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59924195;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0651;AF_popmax=0.0910;AF_male=0.0638;AF_female=0.0667;AF_raw=0.0652;AF_afr=0.0910;AF_sas=.;AF_amr=0.0581;AF_eas=0.0013;AF_nfe=0.0585;AF_fin=0.0648;AF_asj=0.0207;AF_oth=0.0604;non_topmed_AF_popmax=0.0913;non_neuro_AF_popmax=0.0878;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0105238;Kaviar_AC=1627;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74819077 rs6424586 T G 100 PASS AC=208;AF=0.939097;AN=214;NS=2504;DP=18623;EAS_AF=1;AMR_AF=0.938;AFR_AF=0.8661;EUR_AF=0.9483;SAS_AF=0.9663;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.939097;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6424586;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9423;ExAC_nontcga_ALL=0.9429;ExAC_nontcga_AFR=0.8887;ExAC_nontcga_AMR=0.9295;ExAC_nontcga_EAS=0.9982;ExAC_nontcga_FIN=0.9186;ExAC_nontcga_NFE=0.9435;ExAC_nontcga_OTH=0.9373;ExAC_nontcga_SAS=0.9636;AF=0.9273;AF_popmax=0.9987;AF_male=0.9282;AF_female=0.9261;AF_raw=0.9268;AF_afr=0.8822;AF_sas=.;AF_amr=0.9394;AF_eas=0.9987;AF_nfe=0.9416;AF_fin=0.9350;AF_asj=0.9793;AF_oth=0.9355;non_topmed_AF_popmax=0.9987;non_neuro_AF_popmax=0.9987;non_cancer_AF_popmax=.;controls_AF_popmax=0.9978;Kaviar_AF=0.924555;Kaviar_AC=142938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 74832855 rs569312228 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19271;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569312228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0024;AF_popmax=0.0042;AF_male=0.0026;AF_female=0.0022;AF_raw=0.0025;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74833505 rs187933438 G A 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=15525;EAS_AF=0.0169;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187933438;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0189;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0189;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0187;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0223;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74836154 rs6698326 T G 100 PASS AC=6;AF=0.0535144;AN=214;NS=2504;DP=18076;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.1067;EUR_AF=0.0517;SAS_AF=0.0348;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6698326;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0654;AF_popmax=0.0912;AF_male=0.0641;AF_female=0.0670;AF_raw=0.0653;AF_afr=0.0912;AF_sas=.;AF_amr=0.0592;AF_eas=0.0013;AF_nfe=0.0588;AF_fin=0.0650;AF_asj=0.0207;AF_oth=0.0607;non_topmed_AF_popmax=0.0916;non_neuro_AF_popmax=0.0895;non_cancer_AF_popmax=.;controls_AF_popmax=0.0900;Kaviar_AF=0.0104397;Kaviar_AC=1614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74901739 rs533006110 CT C 100 PASS AC=119;AF=0.540335;AN=214;NS=2504;DP=15001;EAS_AF=0.6002;AMR_AF=0.5648;AFR_AF=0.4463;EUR_AF=0.5626;SAS_AF=0.5654;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533006110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1307;ExAC_nontcga_AFR=0.1483;ExAC_nontcga_AMR=0.1097;ExAC_nontcga_EAS=0.0847;ExAC_nontcga_FIN=0.1891;ExAC_nontcga_NFE=0.1365;ExAC_nontcga_OTH=0.1566;ExAC_nontcga_SAS=0.1092;AF=0.5500;AF_popmax=0.8194;AF_male=0.5506;AF_female=0.5492;AF_raw=0.4739;AF_afr=0.1987;AF_sas=.;AF_amr=0.6943;AF_eas=0.8194;AF_nfe=0.7325;AF_fin=0.4348;AF_asj=0.7337;AF_oth=0.6826;non_topmed_AF_popmax=0.8207;non_neuro_AF_popmax=0.8194;non_cancer_AF_popmax=.;controls_AF_popmax=0.8212;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|0 1|0 0|1 0|1 1|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|1 1|0 1|0 1|0 0|1 1|0 0|1 0|0 1|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 0|1 1|0 1|0 1|0 0|1 1|0 0|1 1|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|1 1|1 0|1 0|0 0|1 1|0 0|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 0|0 1|0 1|0 +1 74901829 rs45589143 A C 100 PASS AC=8;AF=0.0776757;AN=214;NS=2504;DP=15304;EAS_AF=0;AMR_AF=0.0836;AFR_AF=0.1944;EUR_AF=0.0527;SAS_AF=0.0215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0776757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45589143;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.06;ExAC_nontcga_ALL=0.0656;ExAC_nontcga_AFR=0.1780;ExAC_nontcga_AMR=0.0935;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0530;ExAC_nontcga_NFE=0.0616;ExAC_nontcga_OTH=0.0648;ExAC_nontcga_SAS=0.0344;AF=0.0868;AF_popmax=0.1744;AF_male=0.0853;AF_female=0.0886;AF_raw=0.0890;AF_afr=0.1744;AF_sas=.;AF_amr=0.0663;AF_eas=0;AF_nfe=0.0596;AF_fin=0.0451;AF_asj=0.0382;AF_oth=0.0597;non_topmed_AF_popmax=0.1749;non_neuro_AF_popmax=0.1760;non_cancer_AF_popmax=.;controls_AF_popmax=0.1777;Kaviar_AF=0.0636085;Kaviar_AC=9834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74902244 rs41289200 A G 100 PASS AC=8;AF=0.0662939;AN=214;NS=2504;DP=16211;EAS_AF=0;AMR_AF=0.0821;AFR_AF=0.152;EUR_AF=0.0527;SAS_AF=0.0215;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0662939;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289200;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0619;ExAC_nontcga_ALL=0.0631;ExAC_nontcga_AFR=0.1466;ExAC_nontcga_AMR=0.0934;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0534;ExAC_nontcga_NFE=0.0621;ExAC_nontcga_OTH=0.0640;ExAC_nontcga_SAS=0.0342;AF=0.0809;AF_popmax=0.1472;AF_male=0.0786;AF_female=0.0838;AF_raw=0.0809;AF_afr=0.1472;AF_sas=.;AF_amr=0.0697;AF_eas=0;AF_nfe=0.0619;AF_fin=0.0478;AF_asj=0.0379;AF_oth=0.0625;non_topmed_AF_popmax=0.1479;non_neuro_AF_popmax=0.1473;non_cancer_AF_popmax=.;controls_AF_popmax=0.1506;Kaviar_AF=0.0607301;Kaviar_AC=9389;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.654677;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74929048 rs45524636 T G 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=20448;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45524636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0069;AF_popmax=0.0093;AF_male=0.0074;AF_female=0.0062;AF_raw=0.0069;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0144;AF_asj=0.0138;AF_oth=0.0092;non_topmed_AF_popmax=0.0098;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0125;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 74929075 rs3737563 T C 100 PASS AC=3;AF=0.0660942;AN=214;NS=2504;DP=19349;EAS_AF=0.1329;AMR_AF=0.0187;AFR_AF=0.0893;EUR_AF=0.008;SAS_AF=0.0593;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3737563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0292;ExAC_nontcga_AFR=0.0713;ExAC_nontcga_AMR=0.0152;ExAC_nontcga_EAS=0.1319;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0491;AF=0.0297;AF_popmax=0.1142;AF_male=0.0317;AF_female=0.0272;AF_raw=0.0298;AF_afr=0.0734;AF_sas=.;AF_amr=0.0130;AF_eas=0.1142;AF_nfe=0.0056;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.1132;non_neuro_AF_popmax=0.1142;non_cancer_AF_popmax=.;controls_AF_popmax=0.1083;Kaviar_AF=0.0267849;Kaviar_AC=4141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74929131 rs140963906 C G 100 PASS AC=3;AF=0.00858626;AN=214;NS=2504;DP=18059;EAS_AF=0.0099;AMR_AF=0.0173;AFR_AF=0.0061;EUR_AF=0.0129;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon21:c.C2018G:p.A673G,FPGT-TNNI3K:NM_001112808:exon23:c.C2360G:p.A787G,FPGT-TNNI3K:NM_001199327:exon23:c.C2360G:p.A787G;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140963906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.925;MutationAssessor_score_rankscore=0.515;MutationAssessor_pred=L;FATHMM_score=-1.71;FATHMM_converted_rankscore=0.832;FATHMM_pred=D;PROVEAN_score=-3.11;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.63;VEST3_rankscore=0.658;MetaSVM_score=0.343;MetaSVM_rankscore=0.882;MetaSVM_pred=D;MetaLR_score=0.661;MetaLR_rankscore=0.882;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.538;REVEL_rankscore=0.809;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.930;CADD_raw_rankscore=0.933;CADD_phred=33;DANN_score=0.998;DANN_rankscore=0.863;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.715;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.768;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=5.643;phyloP100way_vertebrate_rankscore=0.673;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.768;phastCons20way_mammalian_rankscore=0.327;SiPhy_29way_logOdds=19.889;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain|Serine-threonine/tyrosine-protein_kinase,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.903e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.862e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.509553;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 74954856 rs45592143 C CT 100 PASS AC=4;AF=0.081869;AN=214;NS=2504;DP=16674;EAS_AF=0;AMR_AF=0.0432;AFR_AF=0.2685;EUR_AF=0.0159;SAS_AF=0.0092;AA=TTTTTT|TTTTTT|TTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397897537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0168;ExAC_nontcga_ALL=0.0333;ExAC_nontcga_AFR=0.2635;ExAC_nontcga_AMR=0.0194;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0349;ExAC_nontcga_SAS=0.0127;AF=0.0805;AF_popmax=0.2617;AF_male=0.0848;AF_female=0.0751;AF_raw=0.0807;AF_afr=0.2617;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0119;AF_fin=0.0049;AF_asj=0.0207;AF_oth=0.0221;non_topmed_AF_popmax=0.2625;non_neuro_AF_popmax=0.2579;non_cancer_AF_popmax=.;controls_AF_popmax=0.2559;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 74957896 rs201340993 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17313;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon23:c.G2297C:p.R766P,FPGT-TNNI3K:NM_001112808:exon25:c.G2639C:p.R880P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201340993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.15;SIFT_converted_rankscore=0.246;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.608;Polyphen2_HVAR_rankscore=0.586;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-0.87;FATHMM_converted_rankscore=0.746;FATHMM_pred=T;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.902;VEST3_rankscore=0.894;MetaSVM_score=-0.495;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.298;MetaLR_rankscore=0.669;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.640;M-CAP_pred=D;REVEL_score=0.338;REVEL_rankscore=0.664;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.042;CADD_raw_rankscore=0.939;CADD_phred=33;DANN_score=0.995;DANN_rankscore=0.655;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.735;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.440;Eigen-PC-raw=0.474;GenoCanyon_score=0.955;GenoCanyon_score_rankscore=0.281;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.78;GERP++_RS_rankscore=0.605;phyloP100way_vertebrate=6.257;phyloP100way_vertebrate_rankscore=0.722;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=14.531;SiPhy_29way_logOdds_rankscore=0.674;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.773e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.374e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.168821;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75005984 rs138969829 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5744;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon24:c.C2418T:p.P806P,FPGT-TNNI3K:NM_001112808:exon26:c.C2760T:p.P920P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138969829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.898e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.128939;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75006027 rs3895907 A G 100 PASS AC=120;AF=0.324481;AN=214;NS=2504;DP=13220;EAS_AF=0.1468;AMR_AF=0.3847;AFR_AF=0.1936;EUR_AF=0.5487;SAS_AF=0.411;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.324481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3895907;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5560;ExAC_nontcga_ALL=0.4474;ExAC_nontcga_AFR=0.2184;ExAC_nontcga_AMR=0.3366;ExAC_nontcga_EAS=0.1537;ExAC_nontcga_FIN=0.4781;ExAC_nontcga_NFE=0.5594;ExAC_nontcga_OTH=0.4488;ExAC_nontcga_SAS=0.4035;AF=0.4324;AF_popmax=0.5647;AF_male=0.4290;AF_female=0.4367;AF_raw=0.4325;AF_afr=0.2180;AF_sas=.;AF_amr=0.3771;AF_eas=0.1789;AF_nfe=0.5647;AF_fin=0.4781;AF_asj=0.5414;AF_oth=0.5046;non_topmed_AF_popmax=0.5689;non_neuro_AF_popmax=0.5649;non_cancer_AF_popmax=.;controls_AF_popmax=0.5833;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|0 0|0 1|0 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|0 0|1 0|0 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|0 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|1 0|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|1 0|0 1|0 +1 75006076 rs3845348 G A 100 PASS AC=204;AF=0.916334;AN=214;NS=2504;DP=16269;EAS_AF=0.8938;AMR_AF=0.9597;AFR_AF=0.8737;EUR_AF=0.9642;SAS_AF=0.9172;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.916334;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3845348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9363;AF_popmax=0.9606;AF_male=0.9378;AF_female=0.9345;AF_raw=0.9361;AF_afr=0.8941;AF_sas=.;AF_amr=0.9409;AF_eas=0.8808;AF_nfe=0.9606;AF_fin=0.9567;AF_asj=0.9414;AF_oth=0.9389;non_topmed_AF_popmax=0.9580;non_neuro_AF_popmax=0.9599;non_cancer_AF_popmax=.;controls_AF_popmax=0.9543;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +1 75009539 rs190079226 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20872;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190079226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.579e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.866e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 75009749 rs183224073 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17076;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=NM_001112808:c.*83A>G\x3bNM_015978:c.*83A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183224073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.637970;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78383467 rs1749913 G A 100 PASS AC=189;AF=0.763778;AN=214;NS=2504;DP=16444;EAS_AF=0.7669;AMR_AF=0.7579;AFR_AF=0.7095;EUR_AF=0.8708;SAS_AF=0.728;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.763778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1749913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8608;ExAC_nontcga_ALL=0.8073;ExAC_nontcga_AFR=0.7414;ExAC_nontcga_AMR=0.7129;ExAC_nontcga_EAS=0.8044;ExAC_nontcga_FIN=0.7690;ExAC_nontcga_NFE=0.8610;ExAC_nontcga_OTH=0.8104;ExAC_nontcga_SAS=0.7482;AF=0.8093;AF_popmax=0.8547;AF_male=0.8058;AF_female=0.8136;AF_raw=0.8088;AF_afr=0.7447;AF_sas=.;AF_amr=0.7476;AF_eas=0.8207;AF_nfe=0.8547;AF_fin=0.7792;AF_asj=0.8310;AF_oth=0.8039;non_topmed_AF_popmax=0.8531;non_neuro_AF_popmax=0.8546;non_cancer_AF_popmax=.;controls_AF_popmax=0.8433;Kaviar_AF=0.788858;Kaviar_AC=121959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.448456;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 +1 78383669 rs199720912 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon3:c.G52C:p.D18H,NEXN:NM_144573:exon4:c.G244C:p.D82H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199720912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.907;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.633;Polyphen2_HVAR_rankscore=0.598;Polyphen2_HVAR_pred=P;LRT_score=0.042;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.51;MutationAssessor_score_rankscore=0.734;MutationAssessor_pred=M;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.420;PROVEAN_pred=N;VEST3_score=0.271;VEST3_rankscore=0.329;MetaSVM_score=-0.064;MetaSVM_rankscore=0.809;MetaSVM_pred=T;MetaLR_score=0.486;MetaLR_rankscore=0.804;MetaLR_pred=T;M-CAP_score=0.048;M-CAP_rankscore=0.633;M-CAP_pred=D;REVEL_score=0.263;REVEL_rankscore=0.580;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.175;CADD_raw_rankscore=0.698;CADD_phred=25.5;DANN_score=0.996;DANN_rankscore=0.761;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.921;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.733;Eigen-PC-raw=0.761;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.75;GERP++_RS_rankscore=0.904;phyloP100way_vertebrate=7.401;phyloP100way_vertebrate_rankscore=0.790;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.305;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.483e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.825396;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78383732 rs557550792 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16756;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557550792;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.481e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.926567;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 78390821 rs200727461 CA C 100 PASS AC=5;AF=0.00938498;AN=214;NS=2504;DP=15435;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0184;AA=AAAAA|AAAAA|AAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200727461;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0251;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0105;AF_popmax=0.0163;AF_male=0.0100;AF_female=0.0111;AF_raw=0.0104;AF_afr=0.0022;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0085;AF_asj=0.0310;AF_oth=0.0139;non_topmed_AF_popmax=0.0178;non_neuro_AF_popmax=0.0160;non_cancer_AF_popmax=.;controls_AF_popmax=0.0194;Kaviar_AF=0.0016905;Kaviar_AC=44;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.749426;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 78391020 rs76684082 T C 100 PASS AC=4;AF=0.0341454;AN=214;NS=2504;DP=13803;EAS_AF=0.0367;AMR_AF=0.0115;AFR_AF=0.0499;EUR_AF=0.0249;SAS_AF=0.0358;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76684082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0321;AF_popmax=0.05;AF_male=0.0328;AF_female=0.0312;AF_raw=0.0321;AF_afr=0.0498;AF_sas=.;AF_amr=0.0165;AF_eas=0.05;AF_nfe=0.0174;AF_fin=0.0484;AF_asj=0.0345;AF_oth=0.0313;non_topmed_AF_popmax=0.0512;non_neuro_AF_popmax=0.0514;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.131935;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78392446 rs1166698 G A 100 PASS AC=48;AF=0.150759;AN=214;NS=2504;DP=17088;EAS_AF=0.38;AMR_AF=0.1167;AFR_AF=0.0106;EUR_AF=0.2107;SAS_AF=0.0665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;1000g2015aug_all=0.150759;GWAS=rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370;ORegAnno_REGULATORY_P=rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370;avsnp150=rs1166698;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.546;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=3.37;MutationAssessor_score_rankscore=0.915;MutationAssessor_pred=M;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.501;PROVEAN_pred=N;VEST3_score=0.197;VEST3_rankscore=0.479;MetaSVM_score=-0.291;MetaSVM_rankscore=0.753;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_rankscore=0.791;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.371;REVEL_rankscore=0.694;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.664;CADD_raw_rankscore=0.772;CADD_phred=26.7;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.943;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.866;Eigen-PC-raw=0.839;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.64;GERP++_RS_rankscore=0.864;phyloP100way_vertebrate=9.356;phyloP100way_vertebrate_rankscore=0.965;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=19.694;SiPhy_29way_logOdds_rankscore=0.960;Interpro_domain=.;GTEx_V6p_gene=ENSG00000162614.14|ENSG00000162616.8|ENSG00000137960.5|ENSG00000162616.8|ENSG00000137960.5|ENSG00000162616.8|ENSG00000137960.5;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2073;ExAC_nontcga_ALL=0.1829;ExAC_nontcga_AFR=0.0345;ExAC_nontcga_AMR=0.1432;ExAC_nontcga_EAS=0.3999;ExAC_nontcga_FIN=0.1704;ExAC_nontcga_NFE=0.2162;ExAC_nontcga_OTH=0.1667;ExAC_nontcga_SAS=0.0784;AF=0.1651;AF_popmax=0.4;AF_male=0.1637;AF_female=0.1669;AF_raw=0.1652;AF_afr=0.0388;AF_sas=.;AF_amr=0.1635;AF_eas=0.4;AF_nfe=0.2103;AF_fin=0.1747;AF_asj=0.1897;AF_oth=0.1651;non_topmed_AF_popmax=0.4008;non_neuro_AF_popmax=0.4;non_cancer_AF_popmax=.;controls_AF_popmax=0.4143;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000008757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.839430;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 +1 78394997 rs542794485 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17093;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542794485;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.564e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.864e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.612935;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78399207 rs4483454 C G 100 PASS AC=172;AF=0.664537;AN=214;NS=2504;DP=14270;EAS_AF=0.7669;AMR_AF=0.6916;AFR_AF=0.4327;EUR_AF=0.8131;SAS_AF=0.7004;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.664537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4483454;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8166;ExAC_nontcga_ALL=0.7568;ExAC_nontcga_AFR=0.4958;ExAC_nontcga_AMR=0.6784;ExAC_nontcga_EAS=0.8108;ExAC_nontcga_FIN=0.7559;ExAC_nontcga_NFE=0.8178;ExAC_nontcga_OTH=0.7780;ExAC_nontcga_SAS=0.7263;AF=0.7146;AF_popmax=0.8194;AF_male=0.7097;AF_female=0.7207;AF_raw=0.7139;AF_afr=0.4944;AF_sas=.;AF_amr=0.6986;AF_eas=0.8194;AF_nfe=0.8149;AF_fin=0.7643;AF_asj=0.7535;AF_oth=0.7472;non_topmed_AF_popmax=0.8188;non_neuro_AF_popmax=0.8194;non_cancer_AF_popmax=.;controls_AF_popmax=0.8297;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 +1 78399212 rs41312654 T C 100 PASS AC=17;AF=0.0944489;AN=214;NS=2504;DP=14472;EAS_AF=0;AMR_AF=0.0634;AFR_AF=0.2595;EUR_AF=0.0577;SAS_AF=0.0286;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0944489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312654;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0686;ExAC_nontcga_AFR=0.3047;ExAC_nontcga_AMR=0.0504;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0612;ExAC_nontcga_OTH=0.0372;ExAC_nontcga_SAS=0.0292;AF=0.0884;AF_popmax=0.2282;AF_male=0.0897;AF_female=0.0868;AF_raw=0.0884;AF_afr=0.2282;AF_sas=.;AF_amr=0.0485;AF_eas=0;AF_nfe=0.0396;AF_fin=0.0145;AF_asj=0.0828;AF_oth=0.0572;non_topmed_AF_popmax=0.2288;non_neuro_AF_popmax=0.2210;non_cancer_AF_popmax=.;controls_AF_popmax=0.2196;Kaviar_AF=0.0485311;Kaviar_AC=7503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 78407911 rs147422621 C G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=18472;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147422621;CLNALLELEID=142215;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0032;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0057;AF=0.0023;AF_popmax=0.0038;AF_male=0.0026;AF_female=0.0019;AF_raw=0.0023;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0027555;Kaviar_AC=426;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1242724|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.932182;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 78408536 rs3767028 C G 100 PASS AC=16;AF=0.122005;AN=214;NS=2504;DP=17249;EAS_AF=0.0903;AMR_AF=0.1988;AFR_AF=0.1271;EUR_AF=0.0775;SAS_AF=0.1391;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=NEXN;GeneDetail.refGene=NM_001172309:c.*22C>G\x3bNM_144573:c.*22C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.122005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3767028;CLNALLELEID=281843;CLNDN=Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0849;ExAC_nontcga_ALL=0.1537;ExAC_nontcga_AFR=0.1341;ExAC_nontcga_AMR=0.3100;ExAC_nontcga_EAS=0.1370;ExAC_nontcga_FIN=0.2046;ExAC_nontcga_NFE=0.1187;ExAC_nontcga_OTH=0.1728;ExAC_nontcga_SAS=0.1326;AF=0.1039;AF_popmax=0.2231;AF_male=0.1050;AF_female=0.1025;AF_raw=0.1040;AF_afr=0.1058;AF_sas=.;AF_amr=0.2231;AF_eas=0.0799;AF_nfe=0.0856;AF_fin=0.1556;AF_asj=0.1034;AF_oth=0.125;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2077;non_cancer_AF_popmax=.;controls_AF_popmax=0.2254;Kaviar_AF=0.0998111;Kaviar_AC=15431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352839;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 +1 112318945 rs540669131 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18658;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540669131;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368797|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.612548;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112319899 rs72548732 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=21795;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72548732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.36e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.583364;ALLELE_END;VINYL_score=3 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112320984 rs116457688 G A 100 PASS AC=1;AF=0.0285543;AN=214;NS=2504;DP=18510;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1021;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116457688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0217;AF_popmax=0.0755;AF_male=0.0214;AF_female=0.0221;AF_raw=0.0217;AF_afr=0.0755;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.0751;non_neuro_AF_popmax=0.0794;non_cancer_AF_popmax=.;controls_AF_popmax=0.0771;Kaviar_AF=0.0086061;Kaviar_AC=224;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368799|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.627817;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112321032 rs640029 T A 100 PASS AC=26;AF=0.192692;AN=214;NS=2504;DP=19328;EAS_AF=0.0367;AMR_AF=0.134;AFR_AF=0.3865;EUR_AF=0.1958;SAS_AF=0.1299;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192692;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs640029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1974;ExAC_nontcga_ALL=0.1777;ExAC_nontcga_AFR=0.3485;ExAC_nontcga_AMR=0.0758;ExAC_nontcga_EAS=0.0407;ExAC_nontcga_FIN=0.2158;ExAC_nontcga_NFE=0.1952;ExAC_nontcga_OTH=0.1484;ExAC_nontcga_SAS=0.1467;AF=0.2350;AF_popmax=0.3387;AF_male=0.2325;AF_female=0.2383;AF_raw=0.2350;AF_afr=0.3387;AF_sas=.;AF_amr=0.1262;AF_eas=0.0423;AF_nfe=0.2084;AF_fin=0.2301;AF_asj=0.1172;AF_oth=0.1961;non_topmed_AF_popmax=0.3387;non_neuro_AF_popmax=0.3414;non_cancer_AF_popmax=.;controls_AF_popmax=0.3406;Kaviar_AF=0.180444;Kaviar_AC=27897;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.217803::0.231799;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000368799|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.550118;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 112329551 rs3738298 G T 100 PASS AC=35;AF=0.192692;AN=214;NS=2504;DP=21453;EAS_AF=0.2272;AMR_AF=0.1095;AFR_AF=0.205;EUR_AF=0.162;SAS_AF=0.2311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192692;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738298;CLNALLELEID=249363;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1417;ExAC_nontcga_ALL=0.1664;ExAC_nontcga_AFR=0.1791;ExAC_nontcga_AMR=0.1112;ExAC_nontcga_EAS=0.2076;ExAC_nontcga_FIN=0.2098;ExAC_nontcga_NFE=0.1486;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.2177;AF=0.1716;AF_popmax=0.2050;AF_male=0.1719;AF_female=0.1713;AF_raw=0.1721;AF_afr=0.1887;AF_sas=.;AF_amr=0.1380;AF_eas=0.2050;AF_nfe=0.1555;AF_fin=0.1993;AF_asj=0.1379;AF_oth=0.1627;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.2050;non_cancer_AF_popmax=.;controls_AF_popmax=0.2090;Kaviar_AF=0.161634;Kaviar_AC=24989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.047328;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 112524467 rs192078928 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14493;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C882G:p.V294V,KCND3:NM_172198:exon2:c.C882G:p.V294V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192078928;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.758332;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112524583 rs199641587 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C766T:p.R256C,KCND3:NM_172198:exon2:c.C766T:p.R256C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199641587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_rankscore=0.722;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-5.25;FATHMM_converted_rankscore=0.989;FATHMM_pred=D;PROVEAN_score=-6.16;PROVEAN_converted_rankscore=0.913;PROVEAN_pred=D;VEST3_score=0.92;VEST3_rankscore=0.911;MetaSVM_score=1.096;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.962;MetaLR_rankscore=0.988;MetaLR_pred=D;M-CAP_score=0.431;M-CAP_rankscore=0.940;M-CAP_pred=D;REVEL_score=0.866;REVEL_rankscore=0.960;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.470;CADD_raw_rankscore=0.892;CADD_phred=29.9;DANN_score=0.999;DANN_rankscore=0.969;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.707;Eigen-PC-raw=0.674;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.414;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=2.228;phyloP100way_vertebrate_rankscore=0.424;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.336;SiPhy_29way_logOdds_rankscore=0.542;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.769855;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112524680 rs17215423 C G 100 PASS AC=3;AF=0.0081869;AN=214;NS=2504;DP=16899;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0023;EUR_AF=0.0258;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G669C:p.S223S,KCND3:NM_172198:exon2:c.G669C:p.S223S;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17215423;CLNALLELEID=238121;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0265;ExAC_nontcga_NFE=0.0200;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0014;AF=0.0187;AF_popmax=0.0255;AF_male=0.0177;AF_female=0.0200;AF_raw=0.0188;AF_afr=0.0040;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0255;AF_fin=0.0354;AF_asj=0;AF_oth=0.025;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0249;non_cancer_AF_popmax=.;controls_AF_popmax=0.0266;Kaviar_AF=0.0141395;Kaviar_AC=2186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.770690;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 112525085 rs17221819 G A 100 PASS AC=14;AF=0.0471246;AN=214;NS=2504;DP=19504;EAS_AF=0.002;AMR_AF=0.0519;AFR_AF=0.0356;EUR_AF=0.1034;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C264T:p.P88P,KCND3:NM_172198:exon2:c.C264T:p.P88P;1000g2015aug_all=0.0471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17221819;CLNALLELEID=134760;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1205;ExAC_nontcga_ALL=0.0866;ExAC_nontcga_AFR=0.0444;ExAC_nontcga_AMR=0.0392;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0677;ExAC_nontcga_NFE=0.1249;ExAC_nontcga_OTH=0.0910;ExAC_nontcga_SAS=0.0640;AF=0.0819;AF_popmax=0.1159;AF_male=0.0809;AF_female=0.0832;AF_raw=0.0819;AF_afr=0.0453;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.1159;AF_fin=0.0633;AF_asj=0.0793;AF_oth=0.0965;non_topmed_AF_popmax=0.1149;non_neuro_AF_popmax=0.1150;non_cancer_AF_popmax=.;controls_AF_popmax=0.1051;Kaviar_AF=0.0906068;Kaviar_AC=14008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1520082|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.749781;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 115252142 rs201075907 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19955;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201075907;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.365687;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115252280 rs143020946 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16559;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NRAS:NM_002524:exon4:c.G360A:p.L120L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143020946;CLNALLELEID=48946;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.689718;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115256669 rs969273 G A 100 PASS AC=144;AF=0.8752;AN=214;NS=2504;DP=14664;EAS_AF=0.999;AMR_AF=0.8213;AFR_AF=0.9803;EUR_AF=0.67;SAS_AF=0.8548;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.8752;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs969273;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7505;AF_popmax=0.9994;AF_male=0.7556;AF_female=0.7441;AF_raw=0.7503;AF_afr=0.9358;AF_sas=.;AF_amr=0.8196;AF_eas=0.9994;AF_nfe=0.6349;AF_fin=0.6934;AF_asj=0.6207;AF_oth=0.7103;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.124346;ALLELE_END;VINYL_score=-1 GT 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 0|0 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|0 0|1 1|1 0|1 0|0 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 +1 115258827 rs577550086 T G 100 PASS AC=46;AF=0.202276;AN=214;NS=2504;DP=19673;EAS_AF=0.3234;AMR_AF=0.2233;AFR_AF=0.1392;EUR_AF=0.2594;SAS_AF=0.089;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.202276;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577550086;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0171;ExAC_nontcga_AMR=0.0201;ExAC_nontcga_EAS=0.0195;ExAC_nontcga_FIN=0.0182;ExAC_nontcga_NFE=0.0049;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0024;AF=3.188e-05;AF_popmax=6.491e-05;AF_male=0;AF_female=7.186e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.035e-05;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0136221;Kaviar_AC=2106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000011708|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.361805;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 115258830 rs538668088 C G 100 PASS AC=46;AF=0.221446;AN=214;NS=2504;DP=18704;EAS_AF=0.3313;AMR_AF=0.2334;AFR_AF=0.1762;EUR_AF=0.2644;SAS_AF=0.1166;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221446;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538668088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0822;ExAC_nontcga_AFR=0.1469;ExAC_nontcga_AMR=0.1832;ExAC_nontcga_EAS=0.1758;ExAC_nontcga_FIN=0.2135;ExAC_nontcga_NFE=0.0543;ExAC_nontcga_OTH=0.0693;ExAC_nontcga_SAS=0.0221;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0638284;Kaviar_AC=9868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000011708|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.361805;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116243868 rs28730711 A G 100 PASS AC=14;AF=0.0309505;AN=214;NS=2504;DP=23283;EAS_AF=0;AMR_AF=0.0865;AFR_AF=0.0015;EUR_AF=0.0537;SAS_AF=0.0399;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.T1194C:p.D398D;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28730711;CLNALLELEID=53327;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0614;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.0974;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0463;ExAC_nontcga_NFE=0.0625;ExAC_nontcga_OTH=0.0432;ExAC_nontcga_SAS=0.0438;AF=0.0471;AF_popmax=0.0865;AF_male=0.0466;AF_female=0.0476;AF_raw=0.0470;AF_afr=0.0110;AF_sas=.;AF_amr=0.0865;AF_eas=0;AF_nfe=0.0683;AF_fin=0.0469;AF_asj=0.0552;AF_oth=0.0699;non_topmed_AF_popmax=0.0868;non_neuro_AF_popmax=0.0909;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.0529683;Kaviar_AC=8189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698690;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 116243877 rs7413162 G A 100 PASS AC=106;AF=0.425719;AN=214;NS=2504;DP=23773;EAS_AF=0.3224;AMR_AF=0.464;AFR_AF=0.4599;EUR_AF=0.4135;SAS_AF=0.4714;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;1000g2015aug_all=0.425719;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7413162;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3573;ExAC_nontcga_ALL=0.3855;ExAC_nontcga_AFR=0.4555;ExAC_nontcga_AMR=0.4518;ExAC_nontcga_EAS=0.3014;ExAC_nontcga_FIN=0.4079;ExAC_nontcga_NFE=0.3609;ExAC_nontcga_OTH=0.3934;ExAC_nontcga_SAS=0.4128;AF=0.3861;AF_popmax=0.4458;AF_male=0.3830;AF_female=0.3899;AF_raw=0.3860;AF_afr=0.4458;AF_sas=.;AF_amr=0.4384;AF_eas=0.2458;AF_nfe=0.3610;AF_fin=0.3937;AF_asj=0.3993;AF_oth=0.3958;non_topmed_AF_popmax=0.4464;non_neuro_AF_popmax=0.4489;non_cancer_AF_popmax=.;controls_AF_popmax=0.4476;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771213;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 1|0 1|1 +1 116245655 rs12402684 G C 100 PASS AC=61;AF=0.216054;AN=214;NS=2504;DP=18592;EAS_AF=0.1964;AMR_AF=0.2695;AFR_AF=0.1248;EUR_AF=0.2306;SAS_AF=0.3067;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216054;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12402684;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2029;ExAC_nontcga_ALL=0.2352;ExAC_nontcga_AFR=0.1519;ExAC_nontcga_AMR=0.2967;ExAC_nontcga_EAS=0.1685;ExAC_nontcga_FIN=0.2458;ExAC_nontcga_NFE=0.2322;ExAC_nontcga_OTH=0.2340;ExAC_nontcga_SAS=0.2810;AF=0.1925;AF_popmax=0.2429;AF_male=0.1889;AF_female=0.1972;AF_raw=0.1926;AF_afr=0.1403;AF_sas=.;AF_amr=0.2429;AF_eas=0.1245;AF_nfe=0.2199;AF_fin=0.2112;AF_asj=0.2103;AF_oth=0.2160;non_topmed_AF_popmax=0.2370;non_neuro_AF_popmax=0.2419;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.196233;Kaviar_AC=30338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489158|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.527187;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 +1 116247790 rs3811003 G A 100 PASS AC=60;AF=0.428714;AN=214;NS=2504;DP=17300;EAS_AF=0.5198;AMR_AF=0.3487;AFR_AF=0.6142;EUR_AF=0.3022;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3811003;CLNALLELEID=249368;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3197;ExAC_nontcga_ALL=0.3506;ExAC_nontcga_AFR=0.5694;ExAC_nontcga_AMR=0.3723;ExAC_nontcga_EAS=0.5193;ExAC_nontcga_FIN=0.2995;ExAC_nontcga_NFE=0.3097;ExAC_nontcga_OTH=0.3329;ExAC_nontcga_SAS=0.2915;AF=0.3845;AF_popmax=0.5645;AF_male=0.3920;AF_female=0.3751;AF_raw=0.3844;AF_afr=0.5645;AF_sas=.;AF_amr=0.3827;AF_eas=0.5206;AF_nfe=0.2944;AF_fin=0.2988;AF_asj=0.2690;AF_oth=0.3321;non_topmed_AF_popmax=0.5647;non_neuro_AF_popmax=0.5680;non_cancer_AF_popmax=.;controls_AF_popmax=0.5595;Kaviar_AF=0.342441;Kaviar_AC=52942;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 1|0 0|1 1|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 +1 116260532 rs2997741 A T 100 PASS AC=134;AF=0.642772;AN=214;NS=2504;DP=21260;EAS_AF=0.6706;AMR_AF=0.6383;AFR_AF=0.7057;EUR_AF=0.5656;SAS_AF=0.6115;AA=T|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.642772;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2997741;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5505;ExAC_nontcga_ALL=0.5832;ExAC_nontcga_AFR=0.6906;ExAC_nontcga_AMR=0.6427;ExAC_nontcga_EAS=0.6506;ExAC_nontcga_FIN=0.5576;ExAC_nontcga_NFE=0.5446;ExAC_nontcga_OTH=0.5821;ExAC_nontcga_SAS=0.5889;AF=0.5870;AF_popmax=0.6888;AF_male=0.5885;AF_female=0.5850;AF_raw=0.5870;AF_afr=0.6888;AF_sas=.;AF_amr=0.6327;AF_eas=0.6195;AF_nfe=0.5360;AF_fin=0.5460;AF_asj=0.5241;AF_oth=0.5592;non_topmed_AF_popmax=0.6888;non_neuro_AF_popmax=0.6842;non_cancer_AF_popmax=.;controls_AF_popmax=0.6842;Kaviar_AF=0.573414;Kaviar_AC=88651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.848888;ALLELE_END;VINYL_score=2 GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116260544 rs3811001 C T 100 PASS AC=74;AF=0.250799;AN=214;NS=2504;DP=21408;EAS_AF=0.1825;AMR_AF=0.2824;AFR_AF=0.2375;EUR_AF=0.2555;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3811001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2274;ExAC_nontcga_ALL=0.2366;ExAC_nontcga_AFR=0.2191;ExAC_nontcga_AMR=0.2716;ExAC_nontcga_EAS=0.1575;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.2309;ExAC_nontcga_OTH=0.2428;ExAC_nontcga_SAS=0.2796;AF=0.2237;AF_popmax=0.2725;AF_male=0.2194;AF_female=0.2291;AF_raw=0.2243;AF_afr=0.2071;AF_sas=.;AF_amr=0.2725;AF_eas=0.1393;AF_nfe=0.2373;AF_fin=0.2244;AF_asj=0.2172;AF_oth=0.2468;non_topmed_AF_popmax=0.2667;non_neuro_AF_popmax=0.26;non_cancer_AF_popmax=.;controls_AF_popmax=0.2764;Kaviar_AF=0.231912;Kaviar_AC=35854;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.991300;ALLELE_END;VINYL_score=2 GT 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 1|1 1|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 +1 116260604 rs2997742 G A 100 PASS AC=134;AF=0.630591;AN=214;NS=2504;DP=21435;EAS_AF=0.6706;AMR_AF=0.6326;AFR_AF=0.6626;EUR_AF=0.5656;SAS_AF=0.6115;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.630591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2997742;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5746;AF_popmax=0.6441;AF_male=0.5748;AF_female=0.5743;AF_raw=0.5741;AF_afr=0.6441;AF_sas=.;AF_amr=0.6280;AF_eas=0.6197;AF_nfe=0.5365;AF_fin=0.5461;AF_asj=0.5208;AF_oth=0.5580;non_topmed_AF_popmax=0.6442;non_neuro_AF_popmax=0.6440;non_cancer_AF_popmax=.;controls_AF_popmax=0.6392;Kaviar_AF=0.111221;Kaviar_AC=17195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369737|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.371601;ALLELE_END;VINYL_score=2 GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116268154 rs199571249 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15439;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon7:c.G758A:p.R253H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199571249;CLNALLELEID=172474;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.028;SIFT_converted_rankscore=0.461;SIFT_pred=D;Polyphen2_HDIV_score=0.165;Polyphen2_HDIV_rankscore=0.271;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.268;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=D;MutationAssessor_score=1.73;MutationAssessor_score_rankscore=0.448;MutationAssessor_pred=L;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.802;VEST3_rankscore=0.791;MetaSVM_score=-0.531;MetaSVM_rankscore=0.675;MetaSVM_pred=T;MetaLR_score=0.318;MetaLR_rankscore=0.688;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.304;M-CAP_pred=T;REVEL_score=0.406;REVEL_rankscore=0.722;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.979;CADD_raw_rankscore=0.822;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.947;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.740;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.208;Eigen-PC-raw=0.347;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=3.287;phyloP100way_vertebrate_rankscore=0.512;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.187;SiPhy_29way_logOdds_rankscore=0.936;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.468e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.216e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.464e-05;AF_popmax=0.0007;AF_male=0;AF_female=7.859e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915304;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116268178 rs542504128 GAA G 100 PASS AC=117;AF=0.505391;AN=214;NS=2504;DP=17973;EAS_AF=0.5208;AMR_AF=0.4798;AFR_AF=0.4977;EUR_AF=0.505;SAS_AF=0.5184;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.505391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542504128;CLNALLELEID=389309;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1059;ExAC_nontcga_AFR=0.0576;ExAC_nontcga_AMR=0.0773;ExAC_nontcga_EAS=0.0654;ExAC_nontcga_FIN=0.1213;ExAC_nontcga_NFE=0.1112;ExAC_nontcga_OTH=0.1351;ExAC_nontcga_SAS=0.1375;AF=0.4579;AF_popmax=0.5507;AF_male=0.4558;AF_female=0.4606;AF_raw=0.3628;AF_afr=0.3601;AF_sas=.;AF_amr=0.4468;AF_eas=0.5507;AF_nfe=0.5078;AF_fin=0.3622;AF_asj=0.4845;AF_oth=0.4754;non_topmed_AF_popmax=0.5487;non_neuro_AF_popmax=0.5507;non_cancer_AF_popmax=.;controls_AF_popmax=0.5375;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.780676;ALLELE_END;VINYL_score=1 GT 0|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 1|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 1|0 1|1 +1 116268283 rs4475752 C T 100 PASS AC=129;AF=0.567292;AN=214;NS=2504;DP=18650;EAS_AF=0.6706;AMR_AF=0.6182;AFR_AF=0.4319;EUR_AF=0.5567;SAS_AF=0.6186;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.567292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4475752;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5111;AF_popmax=0.6197;AF_male=0.5120;AF_female=0.5101;AF_raw=0.5111;AF_afr=0.4387;AF_sas=.;AF_amr=0.6143;AF_eas=0.6197;AF_nfe=0.5282;AF_fin=0.5347;AF_asj=0.5241;AF_oth=0.5353;non_topmed_AF_popmax=0.6181;non_neuro_AF_popmax=0.6197;non_cancer_AF_popmax=.;controls_AF_popmax=0.6203;Kaviar_AF=0.548025;Kaviar_AC=14264;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.605143;ALLELE_END;VINYL_score=1 GT 1|0 1|0 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|0 0|1 0|1 0|0 1|1 1|1 1|1 0|0 0|0 1|1 1|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 1|0 1|1 1|1 +1 116269560 rs572309653 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8225;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572309653;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.374e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.652906;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116275561 rs146664754 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18030;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon5:c.C567G:p.F189L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146664754;CLNALLELEID=172475;CLNDN=Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.78;MutationAssessor_score_rankscore=0.814;MutationAssessor_pred=M;FATHMM_score=-1.15;FATHMM_converted_rankscore=0.780;FATHMM_pred=T;PROVEAN_score=-4.85;PROVEAN_converted_rankscore=0.811;PROVEAN_pred=D;VEST3_score=0.901;VEST3_rankscore=0.900;MetaSVM_score=0.052;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.470;MetaLR_rankscore=0.796;MetaLR_pred=T;M-CAP_score=0.098;M-CAP_rankscore=0.769;M-CAP_pred=D;REVEL_score=0.699;REVEL_rankscore=0.893;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.974;CADD_raw_rankscore=0.821;CADD_phred=27.7;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.581;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.390;Eigen-PC-raw=0.338;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.411;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.81;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=1.710;phyloP100way_vertebrate_rankscore=0.373;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.120;SiPhy_29way_logOdds_rankscore=0.530;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0004;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0001;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0103;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006986;Kaviar_AC=108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855039;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 116283343 rs9428083 A G 100 PASS AC=188;AF=0.64357;AN=214;NS=2504;DP=17827;EAS_AF=0.7431;AMR_AF=0.7608;AFR_AF=0.2814;EUR_AF=0.8738;SAS_AF=0.7106;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.64357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9428083;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0183;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=0.8780;ExAC_nontcga_ALL=0.7832;ExAC_nontcga_AFR=0.3592;ExAC_nontcga_AMR=0.7647;ExAC_nontcga_EAS=0.7587;ExAC_nontcga_FIN=0.8160;ExAC_nontcga_NFE=0.8695;ExAC_nontcga_OTH=0.8078;ExAC_nontcga_SAS=0.7406;AF=0.7118;AF_popmax=0.8592;AF_male=0.7100;AF_female=0.7139;AF_raw=0.7111;AF_afr=0.3682;AF_sas=.;AF_amr=0.7736;AF_eas=0.8112;AF_nfe=0.8592;AF_fin=0.8167;AF_asj=0.8345;AF_oth=0.8011;non_topmed_AF_popmax=0.8518;non_neuro_AF_popmax=0.8595;non_cancer_AF_popmax=.;controls_AF_popmax=0.8281;Kaviar_AF=0.785559;Kaviar_AC=121449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.773890;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 116283526 rs7538337 G A 100 PASS AC=188;AF=0.64357;AN=214;NS=2504;DP=19512;EAS_AF=0.7421;AMR_AF=0.7608;AFR_AF=0.2814;EUR_AF=0.8738;SAS_AF=0.7117;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.64357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7538337;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7114;AF_popmax=0.8592;AF_male=0.7098;AF_female=0.7133;AF_raw=0.7111;AF_afr=0.3683;AF_sas=.;AF_amr=0.7736;AF_eas=0.8098;AF_nfe=0.8592;AF_fin=0.8167;AF_asj=0.8345;AF_oth=0.8006;non_topmed_AF_popmax=0.8518;non_neuro_AF_popmax=0.8595;non_cancer_AF_popmax=.;controls_AF_popmax=0.8279;Kaviar_AF=0.157837;Kaviar_AC=24402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.990499;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 116310943 rs527426700 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20331;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=CASQ2:NM_001232:exon1:c.G220T:p.E74X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527426700;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.767;CADD_raw_rankscore=0.978;CADD_phred=38;DANN_score=0.997;DANN_rankscore=0.775;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.846;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.040;Eigen-PC-raw=0.863;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=7.568;phyloP100way_vertebrate_rankscore=0.814;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=19.369;SiPhy_29way_logOdds_rankscore=0.944;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.870293;ALLELE_END;VINYL_score=15 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 116310967 rs4074536 T C 100 PASS AC=79;AF=0.401158;AN=214;NS=2504;DP=19899;EAS_AF=0.5159;AMR_AF=0.3674;AFR_AF=0.4856;EUR_AF=0.2922;SAS_AF=0.3047;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon1:c.A196G:p.T66A;1000g2015aug_all=0.401158;GWAS=rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220;ORegAnno_REGULATORY_P=rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220;avsnp150=rs4074536;CLNALLELEID=53328;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.943;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_converted_rankscore=0.261;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_converted_rankscore=0.377;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_converted_rankscore=0.030;PROVEAN_pred=N;VEST3_score=0.001;VEST3_rankscore=0.001;MetaSVM_score=-0.939;MetaSVM_rankscore=0.428;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.022;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.622;CADD_raw_rankscore=0.014;CADD_phred=0.002;DANN_score=0.183;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.136;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.332;Eigen-PC-raw=-1.173;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.398;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.44;GERP++_RS_rankscore=0.383;phyloP100way_vertebrate=1.629;phyloP100way_vertebrate_rankscore=0.365;phyloP20way_mammalian=-0.462;phyloP20way_mammalian_rankscore=0.055;phastCons100way_vertebrate=0.308;phastCons100way_vertebrate_rankscore=0.252;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=8.620;SiPhy_29way_logOdds_rankscore=0.328;Interpro_domain=Thioredoxin-like_fold;GTEx_V6p_gene=ENSG00000118729.10|ENSG00000118729.10;GTEx_V6p_tissue=Artery_Coronary|Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2891;ExAC_nontcga_ALL=0.3296;ExAC_nontcga_AFR=0.4581;ExAC_nontcga_AMR=0.3624;ExAC_nontcga_EAS=0.5544;ExAC_nontcga_FIN=0.2731;ExAC_nontcga_NFE=0.2848;ExAC_nontcga_OTH=0.3127;ExAC_nontcga_SAS=0.3004;AF=0.3285;AF_popmax=0.5460;AF_male=0.3342;AF_female=0.3213;AF_raw=0.3287;AF_afr=0.4435;AF_sas=.;AF_amr=0.3614;AF_eas=0.5460;AF_nfe=0.2586;AF_fin=0.2661;AF_asj=0.2483;AF_oth=0.2858;non_topmed_AF_popmax=0.5432;non_neuro_AF_popmax=0.5460;non_cancer_AF_popmax=.;controls_AF_popmax=0.5542;Kaviar_AF=0.320132;Kaviar_AC=49493;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::0.118796;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.668376;ALLELE_END;VINYL_score=5.5 GT 1|0 1|0 1|1 1|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|1 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 +1 116311198 rs4074537 T C 100 PASS AC=214;AF=0.96246;AN=214;NS=2504;DP=20174;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.8631;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CASQ2;GeneDetail.refGene=NM_001232:c.-36A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.96246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4074537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9878;ExAC_nontcga_AFR=0.8728;ExAC_nontcga_AMR=0.9931;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9991;ExAC_nontcga_OTH=0.9948;ExAC_nontcga_SAS=0.9997;AF=0.9636;AF_popmax=1;AF_male=0.9630;AF_female=0.9642;AF_raw=0.9635;AF_afr=0.8713;AF_sas=.;AF_amr=0.9917;AF_eas=1;AF_nfe=0.9993;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.955673;Kaviar_AC=147749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000369751|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1489157|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.930141;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 147230217 rs1692141 T C 100 PASS AC=167;AF=0.880391;AN=214;NS=2504;DP=19460;EAS_AF=0.9018;AMR_AF=0.8804;AFR_AF=0.9017;EUR_AF=0.7584;SAS_AF=0.955;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GJA5;GeneDetail.refGene=NM_181703:c.*53A>G\x3bNM_005266:c.*53A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.880391;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1692141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8145;AF_popmax=0.9108;AF_male=0.8204;AF_female=0.8070;AF_raw=0.8144;AF_afr=0.8768;AF_sas=.;AF_amr=0.8629;AF_eas=0.9108;AF_nfe=0.7750;AF_fin=0.7769;AF_asj=0.8586;AF_oth=0.8065;non_topmed_AF_popmax=0.9112;non_neuro_AF_popmax=0.9108;non_cancer_AF_popmax=.;controls_AF_popmax=0.9136;Kaviar_AF=0.163019;Kaviar_AC=25203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 0|1 +1 147230978 rs2232191 G A 100 PASS AC=3;AF=0.0163738;AN=214;NS=2504;DP=19618;EAS_AF=0.0556;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA5:NM_005266:exon2:c.C369T:p.Y123Y,GJA5:NM_181703:exon2:c.C369T:p.Y123Y;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2232191;CLNALLELEID=276314;CLNDN=Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation|Atrial_standstill_1;CLNDISDB=MedGen:C3279693,OMIM:614049|MedGen:C3468561,Orphanet:ORPHA334|MedGen:C4551959,OMIM:108770;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0.0484;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0084;AF=0.0056;AF_popmax=0.0501;AF_male=0.0062;AF_female=0.0048;AF_raw=0.0056;AF_afr=0.0002;AF_sas=.;AF_amr=0.0071;AF_eas=0.0501;AF_nfe=0.0050;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0513;non_neuro_AF_popmax=0.0501;non_cancer_AF_popmax=.;controls_AF_popmax=0.0449;Kaviar_AF=0.0088162;Kaviar_AC=1363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.569602;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 +1 156084760 rs11549668 C T 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=12738;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001282626:exon1:c.C51T:p.S17S,LMNA:NM_005572:exon1:c.C51T:p.S17S,LMNA:NM_170707:exon1:c.C51T:p.S17S,LMNA:NM_170708:exon1:c.C51T:p.S17S,LMNA:NM_001282625:exon4:c.C51T:p.S17S;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11549668;CLNALLELEID=45141;CLNDN=Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0243;ExAC_nontcga_AFR=0.0108;ExAC_nontcga_AMR=0.0377;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0405;ExAC_nontcga_OTH=0.035;ExAC_nontcga_SAS=0.0060;AF=0.0080;AF_popmax=0.0212;AF_male=0.0082;AF_female=0.0076;AF_raw=0.0080;AF_afr=0.0026;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0043;AF_asj=0.0241;AF_oth=0.0092;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0088873;Kaviar_AC=1374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000014148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1888508|N/A|STAT1|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR,OREG1259368|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.741400;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104292 rs12117552 G A 100 PASS AC=5;AF=0.00798722;AN=214;NS=2504;DP=18038;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0297;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon3:c.G276A:p.L92L,LMNA:NM_001282626:exon3:c.G612A:p.L204L,LMNA:NM_005572:exon3:c.G612A:p.L204L,LMNA:NM_170707:exon3:c.G612A:p.L204L,LMNA:NM_170708:exon3:c.G612A:p.L204L,LMNA:NM_001282624:exon4:c.G369A:p.L123L,LMNA:NM_001282625:exon6:c.G612A:p.L204L;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12117552;CLNALLELEID=57235;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0088;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0269;AF=0.0063;AF_popmax=0.0078;AF_male=0.0063;AF_female=0.0064;AF_raw=0.0063;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0089;AF_asj=0.0276;AF_oth=0.0101;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.0089973;Kaviar_AC=1391;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.637898;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104375 rs11264442 G T 100 PASS AC=3;AF=0.077476;AN=214;NS=2504;DP=18485;EAS_AF=0.0228;AMR_AF=0.0274;AFR_AF=0.1861;EUR_AF=0.0229;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.077476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11264442;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0672;AF_popmax=0.1787;AF_male=0.0672;AF_female=0.0671;AF_raw=0.0675;AF_afr=0.1787;AF_sas=.;AF_amr=0.0248;AF_eas=0.0186;AF_nfe=0.0226;AF_fin=0.0340;AF_asj=0.0172;AF_oth=0.0285;non_topmed_AF_popmax=0.1790;non_neuro_AF_popmax=0.1788;non_cancer_AF_popmax=.;controls_AF_popmax=0.1792;Kaviar_AF=0.007335;Kaviar_AC=1134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.702863;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104392 rs11264443 C T 100 PASS AC=3;AF=0.0750799;AN=214;NS=2504;DP=18226;EAS_AF=0.0228;AMR_AF=0.0216;AFR_AF=0.1808;EUR_AF=0.0219;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11264443;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0664;AF_popmax=0.1758;AF_male=0.0665;AF_female=0.0662;AF_raw=0.0665;AF_afr=0.1758;AF_sas=.;AF_amr=0.0248;AF_eas=0.0186;AF_nfe=0.0227;AF_fin=0.0340;AF_asj=0.0172;AF_oth=0.0285;non_topmed_AF_popmax=0.1760;non_neuro_AF_popmax=0.1762;non_cancer_AF_popmax=.;controls_AF_popmax=0.1770;Kaviar_AF=0.007018;Kaviar_AC=1085;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.072802;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156104659 rs201227908 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20044;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon4:c.C367T:p.R123C,LMNA:NM_001282626:exon4:c.C703T:p.R235C,LMNA:NM_005572:exon4:c.C703T:p.R235C,LMNA:NM_170707:exon4:c.C703T:p.R235C,LMNA:NM_170708:exon4:c.C703T:p.R235C,LMNA:NM_001282624:exon5:c.C460T:p.R154C,LMNA:NM_001282625:exon7:c.C703T:p.R235C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201227908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.091;SIFT_converted_rankscore=0.457;SIFT_pred=T;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.647;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.66;MutationAssessor_score_rankscore=0.426;MutationAssessor_pred=L;FATHMM_score=-2.41;FATHMM_converted_rankscore=0.885;FATHMM_pred=D;PROVEAN_score=-3.37;PROVEAN_converted_rankscore=0.666;PROVEAN_pred=D;VEST3_score=0.722;VEST3_rankscore=0.788;MetaSVM_score=0.420;MetaSVM_rankscore=0.894;MetaSVM_pred=D;MetaLR_score=0.678;MetaLR_rankscore=0.889;MetaLR_pred=D;M-CAP_score=0.251;M-CAP_rankscore=0.891;M-CAP_pred=D;REVEL_score=0.688;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.678;CADD_raw_rankscore=0.627;CADD_phred=24.6;DANN_score=0.997;DANN_rankscore=0.820;fathmm-MKL_coding_score=0.920;fathmm-MKL_coding_rankscore=0.544;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.381;Eigen-PC-raw=0.454;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=3.945;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.808;SiPhy_29way_logOdds_rankscore=0.513;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004687|hsa-miR-371a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613897;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156105028 rs538089 T C 100 PASS AC=32;AF=0.193091;AN=214;NS=2504;DP=16210;EAS_AF=0.0228;AMR_AF=0.085;AFR_AF=0.5242;EUR_AF=0.0865;SAS_AF=0.1074;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon5:c.T525C:p.A175A,LMNA:NM_001282626:exon5:c.T861C:p.A287A,LMNA:NM_005572:exon5:c.T861C:p.A287A,LMNA:NM_170707:exon5:c.T861C:p.A287A,LMNA:NM_170708:exon5:c.T861C:p.A287A,LMNA:NM_001282624:exon6:c.T618C:p.A206A,LMNA:NM_001282625:exon8:c.T861C:p.A287A;1000g2015aug_all=0.193091;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538089;CLNALLELEID=57252;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1084;ExAC_nontcga_AFR=0.4541;ExAC_nontcga_AMR=0.0612;ExAC_nontcga_EAS=0.0186;ExAC_nontcga_FIN=0.0560;ExAC_nontcga_NFE=0.0717;ExAC_nontcga_OTH=0.0928;ExAC_nontcga_SAS=0.1360;AF=0.1720;AF_popmax=0.4445;AF_male=0.1740;AF_female=0.1695;AF_raw=0.1721;AF_afr=0.4445;AF_sas=.;AF_amr=0.0708;AF_eas=0.0206;AF_nfe=0.0701;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0809;non_topmed_AF_popmax=0.4454;non_neuro_AF_popmax=0.4432;non_cancer_AF_popmax=.;controls_AF_popmax=0.4451;Kaviar_AF=0.106389;Kaviar_AC=16448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000071|hsa-miR-17-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.584850;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156105928 rs534807 G A 100 PASS AC=31;AF=0.192292;AN=214;NS=2504;DP=16125;EAS_AF=0.0218;AMR_AF=0.0836;AFR_AF=0.5242;EUR_AF=0.0855;SAS_AF=0.1063;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192292;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534807;CLNALLELEID=45136;CLNDN=Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0748;ExAC_nontcga_ALL=0.1067;ExAC_nontcga_AFR=0.4558;ExAC_nontcga_AMR=0.0605;ExAC_nontcga_EAS=0.0189;ExAC_nontcga_FIN=0.0542;ExAC_nontcga_NFE=0.0708;ExAC_nontcga_OTH=0.0909;ExAC_nontcga_SAS=0.1303;AF=0.1712;AF_popmax=0.4448;AF_male=0.1731;AF_female=0.1688;AF_raw=0.1716;AF_afr=0.4448;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0692;AF_fin=0.0680;AF_asj=0.0966;AF_oth=0.0763;non_topmed_AF_popmax=0.4459;non_neuro_AF_popmax=0.4418;non_cancer_AF_popmax=.;controls_AF_popmax=0.4451;Kaviar_AF=0.10364;Kaviar_AC=16023;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.059805;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156105961 rs141879453 C T 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=16744;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141879453;CLNALLELEID=77683;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided;CLNDISDB=MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0502;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0015;AF=0.0136;AF_popmax=0.0133;AF_male=0.0131;AF_female=0.0142;AF_raw=0.0137;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0544;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0247;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.499001;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141879453;CLNALLELEID=77683;CLNDN=Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided;CLNDISDB=MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0502;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0015;AF=0.0136;AF_popmax=0.0133;AF_male=0.0131;AF_female=0.0142;AF_raw=0.0137;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0544;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0247;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.499001;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156106185 rs505058 T C 100 PASS AC=31;AF=0.249201;AN=214;NS=2504;DP=20622;EAS_AF=0.0228;AMR_AF=0.098;AFR_AF=0.7247;EUR_AF=0.0865;SAS_AF=0.1145;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T1002C:p.D334D,LMNA:NM_001282626:exon7:c.T1338C:p.D446D,LMNA:NM_005572:exon7:c.T1338C:p.D446D,LMNA:NM_170707:exon7:c.T1338C:p.D446D,LMNA:NM_170708:exon7:c.T1338C:p.D446D,LMNA:NM_001282624:exon8:c.T1095C:p.D365D,LMNA:NM_001282625:exon10:c.T1338C:p.D446D;1000g2015aug_all=0.249201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505058;CLNALLELEID=57201;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0760;ExAC_nontcga_ALL=0.1629;ExAC_nontcga_AFR=0.6521;ExAC_nontcga_AMR=0.1003;ExAC_nontcga_EAS=0.0292;ExAC_nontcga_FIN=0.0810;ExAC_nontcga_NFE=0.0977;ExAC_nontcga_OTH=0.1322;ExAC_nontcga_SAS=0.1610;AF=0.2239;AF_popmax=0.6287;AF_male=0.2279;AF_female=0.2190;AF_raw=0.2239;AF_afr=0.6287;AF_sas=.;AF_amr=0.0873;AF_eas=0.0200;AF_nfe=0.0703;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0902;non_topmed_AF_popmax=0.6298;non_neuro_AF_popmax=0.6383;non_cancer_AF_popmax=.;controls_AF_popmax=0.6348;Kaviar_AF=0.120911;Kaviar_AC=18693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702397;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156106863 rs553016 C T 100 PASS AC=31;AF=0.182308;AN=214;NS=2504;DP=16644;EAS_AF=0.0228;AMR_AF=0.0793;AFR_AF=0.4879;EUR_AF=0.0855;SAS_AF=0.1063;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553016;CLNALLELEID=77731;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1057;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.0594;ExAC_nontcga_EAS=0.0192;ExAC_nontcga_FIN=0.0589;ExAC_nontcga_NFE=0.0713;ExAC_nontcga_OTH=0.0964;ExAC_nontcga_SAS=0.1354;AF=0.1637;AF_popmax=0.4158;AF_male=0.1640;AF_female=0.1633;AF_raw=0.1640;AF_afr=0.4158;AF_sas=.;AF_amr=0.0708;AF_eas=0.0200;AF_nfe=0.0697;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0790;non_topmed_AF_popmax=0.4170;non_neuro_AF_popmax=0.4172;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.102677;Kaviar_AC=15874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.631424;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553016;CLNALLELEID=77731;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0751;ExAC_nontcga_ALL=0.1057;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.0594;ExAC_nontcga_EAS=0.0192;ExAC_nontcga_FIN=0.0589;ExAC_nontcga_NFE=0.0713;ExAC_nontcga_OTH=0.0964;ExAC_nontcga_SAS=0.1354;AF=0.1637;AF_popmax=0.4158;AF_male=0.1640;AF_female=0.1633;AF_raw=0.1640;AF_afr=0.4158;AF_sas=.;AF_amr=0.0708;AF_eas=0.0200;AF_nfe=0.0697;AF_fin=0.0691;AF_asj=0.1;AF_oth=0.0790;non_topmed_AF_popmax=0.4170;non_neuro_AF_popmax=0.4172;non_cancer_AF_popmax=.;controls_AF_popmax=0.4191;Kaviar_AF=0.102677;Kaviar_AC=15874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.631424;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156107470 rs142191737 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18934;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.G1298A:p.R433H,LMNA:NM_001282626:exon10:c.G1634A:p.R545H,LMNA:NM_005572:exon10:c.G1634A:p.R545H,LMNA:NM_170707:exon10:c.G1634A:p.R545H,LMNA:NM_001282624:exon11:c.G1391A:p.R464H,LMNA:NM_001282625:exon13:c.G1634A:p.R545H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142191737;CLNALLELEID=172489;CLNDN=Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.907;Polyphen2_HVAR_rankscore=0.627;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.907;VEST3_rankscore=0.899;MetaSVM_score=1.044;MetaSVM_rankscore=0.980;MetaSVM_pred=D;MetaLR_score=0.932;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.650;M-CAP_rankscore=0.971;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.275;CADD_raw_rankscore=0.573;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.629;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.094;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.950;phastCons20way_mammalian_rankscore=0.426;SiPhy_29way_logOdds=17.100;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670614;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.G1298A:p.R433H,LMNA:NM_001282626:exon10:c.G1634A:p.R545H,LMNA:NM_005572:exon10:c.G1634A:p.R545H,LMNA:NM_170707:exon10:c.G1634A:p.R545H,LMNA:NM_001282624:exon11:c.G1391A:p.R464H,LMNA:NM_001282625:exon13:c.G1634A:p.R545H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142191737;CLNALLELEID=172489;CLNDN=Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.907;Polyphen2_HVAR_rankscore=0.627;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.907;VEST3_rankscore=0.899;MetaSVM_score=1.044;MetaSVM_rankscore=0.980;MetaSVM_pred=D;MetaLR_score=0.932;MetaLR_rankscore=0.978;MetaLR_pred=D;M-CAP_score=0.650;M-CAP_rankscore=0.971;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.275;CADD_raw_rankscore=0.573;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.629;Eigen-PC-raw=0.654;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.094;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.950;phastCons20way_mammalian_rankscore=0.426;SiPhy_29way_logOdds=17.100;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670614;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156107534 rs4641 C T 100 PASS AC=45;AF=0.220248;AN=214;NS=2504;DP=13360;EAS_AF=0.2738;AMR_AF=0.3012;AFR_AF=0.0658;EUR_AF=0.2247;SAS_AF=0.3119;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;1000g2015aug_all=0.220248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4641;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2531;ExAC_nontcga_ALL=0.2689;ExAC_nontcga_AFR=0.1021;ExAC_nontcga_AMR=0.3231;ExAC_nontcga_EAS=0.3226;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.3438;ExAC_nontcga_SAS=0.2942;AF=0.1962;AF_popmax=0.2842;AF_male=0.2001;AF_female=0.1912;AF_raw=0.1963;AF_afr=0.0922;AF_sas=.;AF_amr=0.2842;AF_eas=0.2429;AF_nfe=0.2487;AF_fin=0.1711;AF_asj=0.2153;AF_oth=0.2243;non_topmed_AF_popmax=0.2852;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674683;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;1000g2015aug_all=0.220248;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4641;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2531;ExAC_nontcga_ALL=0.2689;ExAC_nontcga_AFR=0.1021;ExAC_nontcga_AMR=0.3231;ExAC_nontcga_EAS=0.3226;ExAC_nontcga_FIN=0.25;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.3438;ExAC_nontcga_SAS=0.2942;AF=0.1962;AF_popmax=0.2842;AF_male=0.2001;AF_female=0.1912;AF_raw=0.1963;AF_afr=0.0922;AF_sas=.;AF_amr=0.2842;AF_eas=0.2429;AF_nfe=0.2487;AF_fin=0.1711;AF_asj=0.2153;AF_oth=0.2243;non_topmed_AF_popmax=0.2852;non_neuro_AF_popmax=0.2708;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674683;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +1 156108325 rs57830985 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14777;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_170708:exon10:c.G1655A:p.R552H,LMNA:NM_001257374:exon11:c.G1409A:p.R470H,LMNA:NM_001282626:exon11:c.G1745A:p.R582H,LMNA:NM_170707:exon11:c.G1745A:p.R582H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57830985;CLNALLELEID=29533;CLNDN=Familial_partial_lipodystrophy_2|not_provided;CLNDISDB=MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;SIFT_score=0.011;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=A;MutationAssessor_score=2.085;MutationAssessor_score_rankscore=0.579;MutationAssessor_pred=M;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.948;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.401;PROVEAN_pred=N;VEST3_score=0.798;VEST3_rankscore=0.914;MetaSVM_score=0.835;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.813;MetaLR_rankscore=0.937;MetaLR_pred=D;M-CAP_score=0.251;M-CAP_rankscore=0.892;M-CAP_pred=D;REVEL_score=0.728;REVEL_rankscore=0.906;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.313;CADD_raw_rankscore=0.948;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.809;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.693;Eigen-PC-raw=0.714;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=9.234;phyloP100way_vertebrate_rankscore=0.944;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.897;SiPhy_29way_logOdds_rankscore=0.790;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1498572|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.626187;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 156108610 rs572131902 G T 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=15442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572131902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0011;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1498572|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.866814;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 156108976 rs7339 G C 100 PASS AC=32;AF=0.185304;AN=214;NS=2504;DP=16326;EAS_AF=0.0228;AMR_AF=0.0807;AFR_AF=0.4977;EUR_AF=0.0865;SAS_AF=0.1063;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*79G>C\x3bNM_001282626:c.*79G>C\x3bNM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185304;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7339;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0773;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1661;AF_popmax=0.4241;AF_male=0.1673;AF_female=0.1646;AF_raw=0.1661;AF_afr=0.4241;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0696;AF_fin=0.0695;AF_asj=0.1;AF_oth=0.0779;non_topmed_AF_popmax=0.4254;non_neuro_AF_popmax=0.4231;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.120371;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*79G>C\x3bNM_001282626:c.*79G>C\x3bNM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185304;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7339;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0773;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1661;AF_popmax=0.4241;AF_male=0.1673;AF_female=0.1646;AF_raw=0.1661;AF_afr=0.4241;AF_sas=.;AF_amr=0.0708;AF_eas=0.0199;AF_nfe=0.0696;AF_fin=0.0695;AF_asj=0.1;AF_oth=0.0779;non_topmed_AF_popmax=0.4254;non_neuro_AF_popmax=0.4231;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.120371;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 156109536 rs185169879 G A 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=9843;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_170707:c.*639G>A\x3bNM_001282626:c.*639G>A\x3bNM_170708:c.*639G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185169879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0111;ExAC_nontcga_EAS=0.0076;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0047;AF=0.0068;AF_popmax=0.0109;AF_male=0.0064;AF_female=0.0073;AF_raw=0.0068;AF_afr=0.0020;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0024126;Kaviar_AC=373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.321233;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162257246 rs7538260 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19835;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7538260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0070;ExAC_nontcga_NFE=0.0177;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0038;AF=0.0084;AF_popmax=0.0131;AF_male=0.0089;AF_female=0.0077;AF_raw=0.0084;AF_afr=0.0020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0049;AF_asj=0.0310;AF_oth=0.0074;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0117916;Kaviar_AC=1823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162270589 rs538660044 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18017;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538660044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000375341|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538660044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000375341|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162302846 rs41271969 C T 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=22480;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon5:c.C369T:p.I123I,NOS1AP:NM_014697:exon5:c.C384T:p.I128I;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41271969;CLNALLELEID=486842;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0018;AF=0.0045;AF_popmax=0.0049;AF_male=0.0039;AF_female=0.0052;AF_raw=0.0045;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0049;AF_fin=0.0155;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0033764;Kaviar_AC=522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.165457;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162313597 rs347278 T C 100 PASS AC=208;AF=0.925919;AN=214;NS=2504;DP=20198;EAS_AF=1;AMR_AF=0.9683;AFR_AF=0.761;EUR_AF=0.9781;SAS_AF=0.9888;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.925919;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs347278;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9816;ExAC_nontcga_ALL=0.9656;ExAC_nontcga_AFR=0.7903;ExAC_nontcga_AMR=0.9820;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9852;ExAC_nontcga_NFE=0.9796;ExAC_nontcga_OTH=0.9813;ExAC_nontcga_SAS=0.9800;AF=0.9297;AF_popmax=0.9994;AF_male=0.9274;AF_female=0.9326;AF_raw=0.9296;AF_afr=0.7898;AF_sas=.;AF_amr=0.9835;AF_eas=0.9994;AF_nfe=0.9815;AF_fin=0.9885;AF_asj=0.9759;AF_oth=0.9715;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=0.9989;Kaviar_AF=0.947808;Kaviar_AC=146533;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 162313735 rs3751284 C T 100 PASS AC=74;AF=0.430911;AN=214;NS=2504;DP=16087;EAS_AF=0.6339;AMR_AF=0.451;AFR_AF=0.2829;EUR_AF=0.3549;SAS_AF=0.4857;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;1000g2015aug_all=0.430911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3751284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3571;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.2881;ExAC_nontcga_AMR=0.4947;ExAC_nontcga_EAS=0.6074;ExAC_nontcga_FIN=0.4665;ExAC_nontcga_NFE=0.3669;ExAC_nontcga_OTH=0.4337;ExAC_nontcga_SAS=0.4647;AF=0.3727;AF_popmax=0.6073;AF_male=0.3758;AF_female=0.3689;AF_raw=0.3731;AF_afr=0.2983;AF_sas=.;AF_amr=0.4444;AF_eas=0.6073;AF_nfe=0.3649;AF_fin=0.4631;AF_asj=0.375;AF_oth=0.3967;non_topmed_AF_popmax=0.6067;non_neuro_AF_popmax=0.6073;non_cancer_AF_popmax=.;controls_AF_popmax=0.6193;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.807592;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 1|0 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 1|1 1|0 1|1 0|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 +1 162324934 rs145938445 G T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21520;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145938445;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0026;AF=3.187e-05;AF_popmax=6.487e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162325172 rs139991954 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22584;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139991954;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162326755 rs200338123 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17764;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.G753A:p.S251S,NOS1AP:NM_014697:exon8:c.G768A:p.S256S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200338123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.534e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.363e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.457502;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162326851 rs77473623 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15778;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon8:c.C849T:p.S283S,NOS1AP:NM_014697:exon8:c.C864T:p.S288S;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77473623;CLNALLELEID=45323;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0020;AF=0.0050;AF_popmax=0.0082;AF_male=0.0045;AF_female=0.0056;AF_raw=0.0050;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0037;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0081;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0059378;Kaviar_AC=918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.477502;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162335256 rs348624 C T 100 PASS AC=37;AF=0.250799;AN=214;NS=2504;DP=18697;EAS_AF=0.123;AMR_AF=0.2161;AFR_AF=0.4342;EUR_AF=0.1193;SAS_AF=0.2945;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs348624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1199;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.2083;ExAC_nontcga_EAS=0.1281;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.1186;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.2620;AF=0.1969;AF_popmax=0.4073;AF_male=0.1998;AF_female=0.1931;AF_raw=0.1971;AF_afr=0.4073;AF_sas=.;AF_amr=0.2026;AF_eas=0.1388;AF_nfe=0.1074;AF_fin=0.1160;AF_asj=0.1172;AF_oth=0.1406;non_topmed_AF_popmax=0.4078;non_neuro_AF_popmax=0.4069;non_cancer_AF_popmax=.;controls_AF_popmax=0.4132;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.930348;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;1000g2015aug_all=0.250799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs348624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1199;ExAC_nontcga_ALL=0.1761;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.2083;ExAC_nontcga_EAS=0.1281;ExAC_nontcga_FIN=0.1053;ExAC_nontcga_NFE=0.1186;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.2620;AF=0.1969;AF_popmax=0.4073;AF_male=0.1998;AF_female=0.1931;AF_raw=0.1971;AF_afr=0.4073;AF_sas=.;AF_amr=0.2026;AF_eas=0.1388;AF_nfe=0.1074;AF_fin=0.1160;AF_asj=0.1172;AF_oth=0.1406;non_topmed_AF_popmax=0.4078;non_neuro_AF_popmax=0.4069;non_cancer_AF_popmax=.;controls_AF_popmax=0.4132;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.930348;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 +1 162335289 rs142457157 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19263;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.G150A:p.M50I,NOS1AP:NM_001164757:exon9:c.G1020A:p.M340I,NOS1AP:NM_014697:exon9:c.G1035A:p.M345I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142457157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.395;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.29;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.324;MetaSVM_score=-0.771;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.180;MetaLR_rankscore=0.527;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.444;M-CAP_pred=T;REVEL_score=0.158;REVEL_rankscore=0.416;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.967;CADD_raw_rankscore=0.534;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.110;Eigen-PC-raw=0.078;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=3.600;phyloP100way_vertebrate_rankscore=0.536;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.253;SiPhy_29way_logOdds_rankscore=0.731;Interpro_domain=PH_domain-like|PTB/PI_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.122376;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.G150A:p.M50I,NOS1AP:NM_001164757:exon9:c.G1020A:p.M340I,NOS1AP:NM_014697:exon9:c.G1035A:p.M345I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142457157;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_rankscore=0.243;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.903;MutationTaster_converted_rankscore=0.395;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-1.01;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-0.29;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.324;MetaSVM_score=-0.771;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.180;MetaLR_rankscore=0.527;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.444;M-CAP_pred=T;REVEL_score=0.158;REVEL_rankscore=0.416;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.967;CADD_raw_rankscore=0.534;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.110;Eigen-PC-raw=0.078;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=3.600;phyloP100way_vertebrate_rankscore=0.536;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.253;SiPhy_29way_logOdds_rankscore=0.731;Interpro_domain=PH_domain-like|PTB/PI_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000932148|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.122376;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 162335424 rs1964052 T C 100 PASS AC=176;AF=0.719249;AN=214;NS=2504;DP=20207;EAS_AF=0.873;AMR_AF=0.7795;AFR_AF=0.4834;EUR_AF=0.8797;SAS_AF=0.6718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1964052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7794;AF_popmax=0.8913;AF_male=0.7742;AF_female=0.7859;AF_raw=0.7790;AF_afr=0.5105;AF_sas=.;AF_amr=0.7983;AF_eas=0.8573;AF_nfe=0.8913;AF_fin=0.8837;AF_asj=0.8724;AF_oth=0.8527;non_topmed_AF_popmax=0.8967;non_neuro_AF_popmax=0.8921;non_cancer_AF_popmax=.;controls_AF_popmax=0.9100;Kaviar_AF=0.162191;Kaviar_AC=25075;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1964052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7794;AF_popmax=0.8913;AF_male=0.7742;AF_female=0.7859;AF_raw=0.7790;AF_afr=0.5105;AF_sas=.;AF_amr=0.7983;AF_eas=0.8573;AF_nfe=0.8913;AF_fin=0.8837;AF_asj=0.8724;AF_oth=0.8527;non_topmed_AF_popmax=0.8967;non_neuro_AF_popmax=0.8921;non_cancer_AF_popmax=.;controls_AF_popmax=0.9100;Kaviar_AF=0.162191;Kaviar_AC=25075;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 +1 201328267 rs3730244 G A 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=15980;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*71C>T\x3bNM_000364:c.*71C>T\x3bNM_001276346:c.*71C>T\x3bNM_001276347:c.*71C>T\x3bNM_001001432:c.*71C>T\x3bNM_001001431:c.*71C>T\x3bNM_001001430:c.*71C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0270;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0282;AF_male=0.0186;AF_female=0.0178;AF_raw=0.0182;AF_afr=0.0048;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0199;AF_asj=0.0172;AF_oth=0.0147;non_topmed_AF_popmax=0.0280;non_neuro_AF_popmax=0.0283;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0031371;Kaviar_AC=485;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.232803;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328272 rs3729998 C T 100 PASS AC=7;AF=0.00738818;AN=214;NS=2504;DP=16295;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*66G>A\x3bNM_000364:c.*66G>A\x3bNM_001276346:c.*66G>A\x3bNM_001276347:c.*66G>A\x3bNM_001001432:c.*66G>A\x3bNM_001001431:c.*66G>A\x3bNM_001001430:c.*66G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729998;CLNALLELEID=278453;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0330;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0171;AF_popmax=0.0244;AF_male=0.0164;AF_female=0.0180;AF_raw=0.0171;AF_afr=0.0062;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0244;AF_fin=0.0213;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0219;non_neuro_AF_popmax=0.0245;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.895900;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328301 rs149240770 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16897;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*37C>T\x3bNM_000364:c.*37C>T\x3bNM_001276346:c.*37C>T\x3bNM_001276347:c.*37C>T\x3bNM_001001432:c.*37C>T\x3bNM_001001431:c.*37C>T\x3bNM_001001430:c.*37C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149240770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0027;ExAC_nontcga_SAS=0.0083;AF=0.0003;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0012031;Kaviar_AC=186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.543918;ALLELE_END;VINYL_score=4 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328329 rs370503996 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17075;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.*9C>T\x3bNM_000364:c.*9C>T\x3bNM_001276346:c.*9C>T\x3bNM_001276347:c.*9C>T\x3bNM_001001432:c.*9C>T\x3bNM_001001431:c.*9C>T\x3bNM_001001430:c.*9C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370503996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.136e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.033e-05;ExAC_nontcga_OTH=0.0025;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328348 rs141121678 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16984;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon14:c.G839T:p.R280L,TNNT2:NM_001001431:exon15:c.G848T:p.R283L,TNNT2:NM_001276346:exon15:c.G758T:p.R253L,TNNT2:NM_000364:exon16:c.G878T:p.R293L,TNNT2:NM_001001430:exon16:c.G857T:p.R286L,TNNT2:NM_001276347:exon16:c.G857T:p.R286L,TNNT2:NM_001276345:exon17:c.G887T:p.R296L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141121678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.79;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.365;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=2.63;MutationAssessor_score_rankscore=0.772;MutationAssessor_pred=M;FATHMM_score=2.48;FATHMM_converted_rankscore=0.840;FATHMM_pred=T;PROVEAN_score=-3.83;PROVEAN_converted_rankscore=0.912;PROVEAN_pred=D;VEST3_score=0.64;VEST3_rankscore=0.656;MetaSVM_score=-1.057;MetaSVM_rankscore=0.125;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.321;M-CAP_rankscore=0.915;M-CAP_pred=D;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=8.083;CADD_raw_rankscore=0.957;CADD_phred=35;DANN_score=0.998;DANN_rankscore=0.919;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.683;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.547;Eigen-PC-raw=0.495;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=3.98;GERP++_RS_rankscore=0.452;phyloP100way_vertebrate=1.787;phyloP100way_vertebrate_rankscore=0.381;phyloP20way_mammalian=0.888;phyloP20way_mammalian_rankscore=0.391;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.363;SiPhy_29way_logOdds_rankscore=0.599;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.293e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.359e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000935437|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.903008;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201328705 rs45576635 G A 100 PASS AC=10;AF=0.0113818;AN=214;NS=2504;DP=17373;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0298;SAS_AF=0.0133;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0113818;GWAS=rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341;ORegAnno_REGULATORY_P=rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341;avsnp150=rs45576635;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0.0202;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0384;ExAC_nontcga_OTH=0.0154;ExAC_nontcga_SAS=0.0251;AF=0.0173;AF_popmax=0.0263;AF_male=0.0164;AF_female=0.0184;AF_raw=0.0173;AF_afr=0.0052;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0263;AF_fin=0.0101;AF_asj=0.0414;AF_oth=0.0239;non_topmed_AF_popmax=0.0255;non_neuro_AF_popmax=0.0289;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0193788;Kaviar_AC=2996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.534858;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +1 201328824 rs2275863 G A 100 PASS AC=23;AF=0.277157;AN=214;NS=2504;DP=19367;EAS_AF=0.2847;AMR_AF=0.1023;AFR_AF=0.5439;EUR_AF=0.0944;SAS_AF=0.2209;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275863;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1020;ExAC_nontcga_ALL=0.2179;ExAC_nontcga_AFR=0.5102;ExAC_nontcga_AMR=0.1354;ExAC_nontcga_EAS=0.3248;ExAC_nontcga_FIN=0.2040;ExAC_nontcga_NFE=0.1404;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.2180;AF=0.2156;AF_popmax=0.4699;AF_male=0.2226;AF_female=0.2067;AF_raw=0.2161;AF_afr=0.4699;AF_sas=.;AF_amr=0.1149;AF_eas=0.2712;AF_nfe=0.0993;AF_fin=0.1278;AF_asj=0.1345;AF_oth=0.1360;non_topmed_AF_popmax=0.4706;non_neuro_AF_popmax=0.4783;non_cancer_AF_popmax=.;controls_AF_popmax=0.4821;Kaviar_AF=0.132896;Kaviar_AC=20546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195219|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.174482;ALLELE_END;VINYL_score=2 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +1 201328913 rs45509695 G C 100 PASS AC=23;AF=0.277955;AN=214;NS=2504;DP=16443;EAS_AF=0.2857;AMR_AF=0.1023;AFR_AF=0.5461;EUR_AF=0.0944;SAS_AF=0.2209;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45509695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2155;AF_popmax=0.4704;AF_male=0.2223;AF_female=0.2069;AF_raw=0.2160;AF_afr=0.4704;AF_sas=.;AF_amr=0.1147;AF_eas=0.2716;AF_nfe=0.0988;AF_fin=0.1276;AF_asj=0.1345;AF_oth=0.1359;non_topmed_AF_popmax=0.4713;non_neuro_AF_popmax=0.4786;non_cancer_AF_popmax=.;controls_AF_popmax=0.4824;Kaviar_AF=0.152144;Kaviar_AC=3960;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +1 201330429 rs3730238 T C 100 PASS AC=5;AF=0.0974441;AN=214;NS=2504;DP=17663;EAS_AF=0.0466;AMR_AF=0.0231;AFR_AF=0.174;EUR_AF=0.0219;SAS_AF=0.1769;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R;1000g2015aug_all=0.0974441;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730238;CLNALLELEID=52838;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.123;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_rankscore=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_rankscore=0.305;Polyphen2_HVAR_pred=B;LRT_score=0.087;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=0.053;MutationTaster_converted_rankscore=0.375;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_converted_rankscore=0.969;FATHMM_pred=D;PROVEAN_score=-1.52;PROVEAN_converted_rankscore=0.558;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.432;MetaSVM_score=-0.972;MetaSVM_rankscore=0.369;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.326;REVEL_rankscore=0.652;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.213;CADD_raw_rankscore=0.327;CADD_phred=17.60;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.271;Eigen-PC-raw=-0.139;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.350;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.57;GERP++_RS_rankscore=0.298;phyloP100way_vertebrate=4.039;phyloP100way_vertebrate_rankscore=0.568;phyloP20way_mammalian=1.058;phyloP20way_mammalian_rankscore=0.762;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.509;SiPhy_29way_logOdds_rankscore=0.160;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=0.0537;ExAC_nontcga_AFR=0.1541;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0453;ExAC_nontcga_FIN=0.0517;ExAC_nontcga_NFE=0.0168;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.1462;AF=0.0602;AF_popmax=0.1481;AF_male=0.0598;AF_female=0.0607;AF_raw=0.0604;AF_afr=0.1481;AF_sas=.;AF_amr=0.0224;AF_eas=0.0404;AF_nfe=0.0179;AF_fin=0.0552;AF_asj=0.0241;AF_oth=0.0414;non_topmed_AF_popmax=0.1492;non_neuro_AF_popmax=0.1560;non_cancer_AF_popmax=.;controls_AF_popmax=0.1630;Kaviar_AF=0.047024;Kaviar_AC=7270;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885874;ALLELE_END;VINYL_score=2.5 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201330583 rs2275861 A G 100 PASS AC=12;AF=0.170927;AN=214;NS=2504;DP=14833;EAS_AF=0.2976;AMR_AF=0.0879;AFR_AF=0.2557;EUR_AF=0.0855;SAS_AF=0.0726;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1519;AF_popmax=0.2935;AF_male=0.1579;AF_female=0.1444;AF_raw=0.1520;AF_afr=0.2510;AF_sas=.;AF_amr=0.1265;AF_eas=0.2935;AF_nfe=0.1028;AF_fin=0.0819;AF_asj=0.0621;AF_oth=0.1194;non_topmed_AF_popmax=0.2917;non_neuro_AF_popmax=0.2935;non_cancer_AF_popmax=.;controls_AF_popmax=0.2912;Kaviar_AF=0.003112;Kaviar_AC=81;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.196602;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331240 rs11810834 C T 100 PASS AC=1;AF=0.0341454;AN=214;NS=2504;DP=13219;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.1278;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001430:exon12:c.G574A:p.A192T,TNNT2:NM_001276347:exon12:c.G574A:p.A192T,TNNT2:NM_001276345:exon13:c.G604A:p.A202T;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11810834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.1343;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0.0001;AF=0.0300;AF_popmax=0.1062;AF_male=0.0331;AF_female=0.0260;AF_raw=0.0301;AF_afr=0.1062;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.1030;non_cancer_AF_popmax=.;controls_AF_popmax=0.1009;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.348823;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331335 rs11807637 A G 100 PASS AC=12;AF=0.165535;AN=214;NS=2504;DP=16200;EAS_AF=0.2986;AMR_AF=0.0879;AFR_AF=0.2352;EUR_AF=0.0855;SAS_AF=0.0716;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.165535;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11807637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1018;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1479;AF_popmax=0.2937;AF_male=0.1536;AF_female=0.1408;AF_raw=0.1479;AF_afr=0.2365;AF_sas=.;AF_amr=0.1253;AF_eas=0.2937;AF_nfe=0.1032;AF_fin=0.0817;AF_asj=0.0621;AF_oth=0.1188;non_topmed_AF_popmax=0.2925;non_neuro_AF_popmax=0.2937;non_cancer_AF_popmax=.;controls_AF_popmax=0.2917;Kaviar_AF=0.0212546;Kaviar_AC=3286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.670438;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201331379 rs11806184 T C 100 PASS AC=12;AF=0.165335;AN=214;NS=2504;DP=16090;EAS_AF=0.2986;AMR_AF=0.0865;AFR_AF=0.2352;EUR_AF=0.0855;SAS_AF=0.0716;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.165335;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11806184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1478;AF_popmax=0.2934;AF_male=0.1536;AF_female=0.1405;AF_raw=0.1478;AF_afr=0.2363;AF_sas=.;AF_amr=0.1262;AF_eas=0.2934;AF_nfe=0.1030;AF_fin=0.0818;AF_asj=0.0621;AF_oth=0.1186;non_topmed_AF_popmax=0.2922;non_neuro_AF_popmax=0.2934;non_cancer_AF_popmax=.;controls_AF_popmax=0.2901;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.911480;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201334382 rs3729547 G A 100 PASS AC=160;AF=0.695088;AN=214;NS=2504;DP=20398;EAS_AF=0.5268;AMR_AF=0.7997;AFR_AF=0.6293;EUR_AF=0.7416;SAS_AF=0.8354;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;1000g2015aug_all=0.695088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729547;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7184;ExAC_nontcga_ALL=0.7220;ExAC_nontcga_AFR=0.6223;ExAC_nontcga_AMR=0.7687;ExAC_nontcga_EAS=0.5486;ExAC_nontcga_FIN=0.7971;ExAC_nontcga_NFE=0.7150;ExAC_nontcga_OTH=0.7767;ExAC_nontcga_SAS=0.8187;AF=0.6923;AF_popmax=0.7653;AF_male=0.6877;AF_female=0.6979;AF_raw=0.6917;AF_afr=0.6132;AF_sas=.;AF_amr=0.7653;AF_eas=0.5336;AF_nfe=0.7215;AF_fin=0.7937;AF_asj=0.7690;AF_oth=0.7325;non_topmed_AF_popmax=0.7654;non_neuro_AF_popmax=0.7473;non_cancer_AF_popmax=.;controls_AF_popmax=0.7398;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.912799;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 201334795 rs3729845 C T 100 PASS AC=23;AF=0.0824681;AN=214;NS=2504;DP=21375;EAS_AF=0.001;AMR_AF=0.0562;AFR_AF=0.1921;EUR_AF=0.0666;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon7:c.G192A:p.S64S,TNNT2:NM_001001430:exon8:c.G207A:p.S69S,TNNT2:NM_001001431:exon8:c.G207A:p.S69S,TNNT2:NM_001276347:exon8:c.G207A:p.S69S,TNNT2:NM_000364:exon9:c.G237A:p.S79S,TNNT2:NM_001276345:exon9:c.G237A:p.S79S,TNNT2:NM_001276346:exon9:c.G234A:p.S78S;1000g2015aug_all=0.0824681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729845;CLNALLELEID=52786;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0634;ExAC_nontcga_ALL=0.0641;ExAC_nontcga_AFR=0.1637;ExAC_nontcga_AMR=0.0379;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0683;ExAC_nontcga_NFE=0.0626;ExAC_nontcga_OTH=0.0585;ExAC_nontcga_SAS=0.0635;AF=0.0831;AF_popmax=0.1536;AF_male=0.0822;AF_female=0.0842;AF_raw=0.0833;AF_afr=0.1536;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.0613;AF_fin=0.0610;AF_asj=0.0621;AF_oth=0.0516;non_topmed_AF_popmax=0.1530;non_neuro_AF_popmax=0.1525;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0622954;Kaviar_AC=9631;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.887891;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +1 201335899 rs1573230 C T 100 PASS AC=214;AF=0.98143;AN=214;NS=2504;DP=20170;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9312;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.98143;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1573230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9991;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9813;AF_popmax=1;AF_male=0.9810;AF_female=0.9817;AF_raw=0.9811;AF_afr=0.9345;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=0.9897;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947287;Kaviar_AC=24656;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 201336984 rs3729843 C T 100 PASS AC=97;AF=0.285543;AN=214;NS=2504;DP=20411;EAS_AF=0.1815;AMR_AF=0.4755;AFR_AF=0.0212;EUR_AF=0.4722;SAS_AF=0.4233;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729843;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4466;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.5357;ExAC_nontcga_EAS=0.2069;ExAC_nontcga_FIN=0.4912;ExAC_nontcga_NFE=0.4556;ExAC_nontcga_OTH=0.4552;ExAC_nontcga_SAS=0.4419;AF=0.3444;AF_popmax=0.5047;AF_male=0.3377;AF_female=0.3529;AF_raw=0.3448;AF_afr=0.0777;AF_sas=.;AF_amr=0.5047;AF_eas=0.1860;AF_nfe=0.4637;AF_fin=0.4836;AF_asj=0.3724;AF_oth=0.4412;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4801;non_cancer_AF_popmax=.;controls_AF_popmax=0.5285;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.303597;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729843;CLNALLELEID=249666;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4466;ExAC_nontcga_ALL=0.4132;ExAC_nontcga_AFR=0.0739;ExAC_nontcga_AMR=0.5357;ExAC_nontcga_EAS=0.2069;ExAC_nontcga_FIN=0.4912;ExAC_nontcga_NFE=0.4556;ExAC_nontcga_OTH=0.4552;ExAC_nontcga_SAS=0.4419;AF=0.3444;AF_popmax=0.5047;AF_male=0.3377;AF_female=0.3529;AF_raw=0.3448;AF_afr=0.0777;AF_sas=.;AF_amr=0.5047;AF_eas=0.1860;AF_nfe=0.4637;AF_fin=0.4836;AF_asj=0.3724;AF_oth=0.4412;non_topmed_AF_popmax=0.5087;non_neuro_AF_popmax=0.4801;non_cancer_AF_popmax=.;controls_AF_popmax=0.5285;Kaviar_AF=0.389284;Kaviar_AC=60184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.303597;ALLELE_END;VINYL_score=1 GT 0|0 1|1 1|1 0|0 0|1 1|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|1 0|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 1|1 1|0 0|0 1|0 1|1 +1 201337340 rs200754249 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18789;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon4:c.C68A:p.A23E,TNNT2:NM_001001430:exon5:c.C83A:p.A28E,TNNT2:NM_001001431:exon5:c.C83A:p.A28E,TNNT2:NM_001276347:exon5:c.C83A:p.A28E,TNNT2:NM_000364:exon6:c.C113A:p.A38E,TNNT2:NM_001276345:exon6:c.C113A:p.A38E,TNNT2:NM_001276346:exon6:c.C113A:p.A38E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200754249;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.344;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.763;LRT_converted_rankscore=0.065;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=0.28;MutationAssessor_score_rankscore=0.100;MutationAssessor_pred=N;FATHMM_score=-6.34;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=0.31;PROVEAN_converted_rankscore=0.056;PROVEAN_pred=N;VEST3_score=0.183;VEST3_rankscore=0.472;MetaSVM_score=0.902;MetaSVM_rankscore=0.957;MetaSVM_pred=D;MetaLR_score=0.870;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.283;M-CAP_rankscore=0.903;M-CAP_pred=D;REVEL_score=0.515;REVEL_rankscore=0.795;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.485;CADD_raw_rankscore=0.056;CADD_phred=0.239;DANN_score=0.216;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.042;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.518;Eigen-PC-raw=-1.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-1.3;GERP++_RS_rankscore=0.087;phyloP100way_vertebrate=-0.080;phyloP100way_vertebrate_rankscore=0.112;phyloP20way_mammalian=-0.250;phyloP20way_mammalian_rankscore=0.090;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=3.888;SiPhy_29way_logOdds_rankscore=0.085;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.424e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438160;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201338553 rs10800776 T C 100 PASS AC=160;AF=0.734625;AN=214;NS=2504;DP=18573;EAS_AF=0.5228;AMR_AF=0.8012;AFR_AF=0.7799;EUR_AF=0.7435;SAS_AF=0.8354;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10800776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7219;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7294;AF_popmax=0.7700;AF_male=0.7274;AF_female=0.7319;AF_raw=0.7289;AF_afr=0.7430;AF_sas=.;AF_amr=0.7700;AF_eas=0.5310;AF_nfe=0.7233;AF_fin=0.7939;AF_asj=0.7690;AF_oth=0.7389;non_topmed_AF_popmax=0.7704;non_neuro_AF_popmax=0.7509;non_cancer_AF_popmax=.;controls_AF_popmax=0.7504;Kaviar_AF=0.0237821;Kaviar_AC=619;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.438366;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 201338586 rs10920183 A G 100 PASS AC=137;AF=0.519169;AN=214;NS=2504;DP=18582;EAS_AF=0.4554;AMR_AF=0.7133;AFR_AF=0.2821;EUR_AF=0.6501;SAS_AF=0.6329;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10920183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5371;AF_popmax=0.6792;AF_male=0.5307;AF_female=0.5451;AF_raw=0.5367;AF_afr=0.3080;AF_sas=.;AF_amr=0.6792;AF_eas=0.4651;AF_nfe=0.6265;AF_fin=0.6769;AF_asj=0.6379;AF_oth=0.6199;non_topmed_AF_popmax=0.6815;non_neuro_AF_popmax=0.6534;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0995653;Kaviar_AC=15393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201338896 rs10920184 T C 100 PASS AC=137;AF=0.529952;AN=214;NS=2504;DP=18402;EAS_AF=0.4653;AMR_AF=0.7176;AFR_AF=0.3132;EUR_AF=0.6511;SAS_AF=0.6319;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10920184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6210;ExAC_nontcga_ALL=0.5983;ExAC_nontcga_AFR=0.3303;ExAC_nontcga_AMR=0.7066;ExAC_nontcga_EAS=0.4876;ExAC_nontcga_FIN=0.6791;ExAC_nontcga_NFE=0.6176;ExAC_nontcga_OTH=0.6499;ExAC_nontcga_SAS=0.6268;AF=0.5449;AF_popmax=0.6915;AF_male=0.5398;AF_female=0.5513;AF_raw=0.5447;AF_afr=0.3328;AF_sas=.;AF_amr=0.6915;AF_eas=0.4743;AF_nfe=0.6267;AF_fin=0.6769;AF_asj=0.6424;AF_oth=0.6222;non_topmed_AF_popmax=0.6926;non_neuro_AF_popmax=0.6649;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.0034088;Kaviar_AC=527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.452912;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201339043 rs12049476 C T 100 PASS AC=142;AF=0.536142;AN=214;NS=2504;DP=16877;EAS_AF=0.4871;AMR_AF=0.719;AFR_AF=0.3124;EUR_AF=0.6581;SAS_AF=0.6339;AA=G|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.536142;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12049476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6332;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5503;AF_popmax=0.6903;AF_male=0.5456;AF_female=0.5562;AF_raw=0.5497;AF_afr=0.3338;AF_sas=.;AF_amr=0.6903;AF_eas=0.5;AF_nfe=0.6338;AF_fin=0.6785;AF_asj=0.6379;AF_oth=0.6268;non_topmed_AF_popmax=0.6931;non_neuro_AF_popmax=0.6594;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.115717;Kaviar_AC=17890;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.498272;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201339044 rs45584633 G A 100 PASS AC=12;AF=0.0678914;AN=214;NS=2504;DP=16724;EAS_AF=0.0794;AMR_AF=0.0706;AFR_AF=0.0545;EUR_AF=0.0855;SAS_AF=0.0542;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45584633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1009;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0856;AF_popmax=0.0995;AF_male=0.0865;AF_female=0.0844;AF_raw=0.0856;AF_afr=0.0638;AF_sas=.;AF_amr=0.0979;AF_eas=0.0904;AF_nfe=0.0995;AF_fin=0.0705;AF_asj=0.0621;AF_oth=0.1011;non_topmed_AF_popmax=0.0988;non_neuro_AF_popmax=0.1047;non_cancer_AF_popmax=.;controls_AF_popmax=0.1098;Kaviar_AF=0.0184409;Kaviar_AC=2851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.498272;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 201341175 rs45533739 CAGAAG C 100 PASS AC=137;AF=0.520367;AN=214;NS=2504;DP=20900;EAS_AF=0.4663;AMR_AF=0.7133;AFR_AF=0.2791;EUR_AF=0.6491;SAS_AF=0.6329;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5933;ExAC_nontcga_AFR=0.3009;ExAC_nontcga_AMR=0.7012;ExAC_nontcga_EAS=0.4847;ExAC_nontcga_FIN=0.6783;ExAC_nontcga_NFE=0.6146;ExAC_nontcga_OTH=0.6470;ExAC_nontcga_SAS=0.6264;AF=0.5305;AF_popmax=0.6731;AF_male=0.5247;AF_female=0.5378;AF_raw=0.5322;AF_afr=0.3013;AF_sas=.;AF_amr=0.6731;AF_eas=0.4655;AF_nfe=0.6186;AF_fin=0.6762;AF_asj=0.6319;AF_oth=0.6128;non_topmed_AF_popmax=0.6767;non_neuro_AF_popmax=0.6450;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0179364;Kaviar_AC=2773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.766280;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.520367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5933;ExAC_nontcga_AFR=0.3009;ExAC_nontcga_AMR=0.7012;ExAC_nontcga_EAS=0.4847;ExAC_nontcga_FIN=0.6783;ExAC_nontcga_NFE=0.6146;ExAC_nontcga_OTH=0.6470;ExAC_nontcga_SAS=0.6264;AF=0.5305;AF_popmax=0.6731;AF_male=0.5247;AF_female=0.5378;AF_raw=0.5322;AF_afr=0.3013;AF_sas=.;AF_amr=0.6731;AF_eas=0.4655;AF_nfe=0.6186;AF_fin=0.6762;AF_asj=0.6319;AF_oth=0.6128;non_topmed_AF_popmax=0.6767;non_neuro_AF_popmax=0.6450;non_cancer_AF_popmax=.;controls_AF_popmax=0.6382;Kaviar_AF=0.0179364;Kaviar_AC=2773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.766280;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|1 0|0 1|1 1|0 0|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|0 1|1 1|1 +1 201341341 rs868407 C T 100 PASS AC=161;AF=0.771765;AN=214;NS=2504;DP=23038;EAS_AF=0.7391;AMR_AF=0.8127;AFR_AF=0.7421;EUR_AF=0.7465;SAS_AF=0.8425;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.771765;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs868407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7244;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7366;AF_popmax=0.7877;AF_male=0.7369;AF_female=0.7363;AF_raw=0.7362;AF_afr=0.7189;AF_sas=.;AF_amr=0.7877;AF_eas=0.7319;AF_nfe=0.7269;AF_fin=0.8061;AF_asj=0.7690;AF_oth=0.7518;non_topmed_AF_popmax=0.7889;non_neuro_AF_popmax=0.7617;non_cancer_AF_popmax=.;controls_AF_popmax=0.7602;Kaviar_AF=0.141499;Kaviar_AC=21876;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.472642;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 +1 227069677 rs11405 T C 100 PASS AC=169;AF=0.735623;AN=214;NS=2504;DP=19714;EAS_AF=0.5427;AMR_AF=0.7176;AFR_AF=0.8313;EUR_AF=0.8022;SAS_AF=0.7495;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;1000g2015aug_all=0.735623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11405;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7801;ExAC_nontcga_ALL=0.7605;ExAC_nontcga_AFR=0.8185;ExAC_nontcga_AMR=0.7402;ExAC_nontcga_EAS=0.5615;ExAC_nontcga_FIN=0.7863;ExAC_nontcga_NFE=0.7835;ExAC_nontcga_OTH=0.7867;ExAC_nontcga_SAS=0.7502;AF=0.7699;AF_popmax=0.8181;AF_male=0.7639;AF_female=0.7774;AF_raw=0.7695;AF_afr=0.8181;AF_sas=.;AF_amr=0.7600;AF_eas=0.5440;AF_nfe=0.7630;AF_fin=0.7804;AF_asj=0.7586;AF_oth=0.7800;non_topmed_AF_popmax=0.8189;non_neuro_AF_popmax=0.8190;non_cancer_AF_popmax=.;controls_AF_popmax=0.8188;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.219904;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227069737 rs6759 C T 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=19385;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6759;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5388;ExAC_nontcga_ALL=0.4980;ExAC_nontcga_AFR=0.3919;ExAC_nontcga_AMR=0.5144;ExAC_nontcga_EAS=0.4042;ExAC_nontcga_FIN=0.5332;ExAC_nontcga_NFE=0.5458;ExAC_nontcga_OTH=0.5405;ExAC_nontcga_SAS=0.4165;AF=0.4779;AF_popmax=0.5402;AF_male=0.4716;AF_female=0.4857;AF_raw=0.4778;AF_afr=0.3853;AF_sas=.;AF_amr=0.5402;AF_eas=0.3927;AF_nfe=0.5185;AF_fin=0.5274;AF_asj=0.6;AF_oth=0.5268;non_topmed_AF_popmax=0.5359;non_neuro_AF_popmax=0.5380;non_cancer_AF_popmax=.;controls_AF_popmax=0.5528;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.315941;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071364 rs1295643 G A 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=15675;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1295643;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5378;ExAC_nontcga_ALL=0.4999;ExAC_nontcga_AFR=0.4018;ExAC_nontcga_AMR=0.5145;ExAC_nontcga_EAS=0.4147;ExAC_nontcga_FIN=0.5358;ExAC_nontcga_NFE=0.5468;ExAC_nontcga_OTH=0.5440;ExAC_nontcga_SAS=0.4240;AF=0.4783;AF_popmax=0.5392;AF_male=0.4722;AF_female=0.4860;AF_raw=0.4778;AF_afr=0.3860;AF_sas=.;AF_amr=0.5392;AF_eas=0.3945;AF_nfe=0.5187;AF_fin=0.5273;AF_asj=0.6;AF_oth=0.5276;non_topmed_AF_popmax=0.5348;non_neuro_AF_popmax=0.5365;non_cancer_AF_popmax=.;controls_AF_popmax=0.5528;Kaviar_AF=0.473131;Kaviar_AC=73147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071377 rs1295644 T C 100 PASS AC=168;AF=0.624401;AN=214;NS=2504;DP=15334;EAS_AF=0.4911;AMR_AF=0.6254;AFR_AF=0.5507;EUR_AF=0.7982;SAS_AF=0.682;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.624401;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1295644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.775;ExAC_nontcga_ALL=0.7224;ExAC_nontcga_AFR=0.5950;ExAC_nontcga_AMR=0.6785;ExAC_nontcga_EAS=0.5264;ExAC_nontcga_FIN=0.7835;ExAC_nontcga_NFE=0.7805;ExAC_nontcga_OTH=0.7555;ExAC_nontcga_SAS=0.6898;AF=0.6918;AF_popmax=0.7604;AF_male=0.6831;AF_female=0.7026;AF_raw=0.6914;AF_afr=0.5639;AF_sas=.;AF_amr=0.7009;AF_eas=0.4794;AF_nfe=0.7604;AF_fin=0.7772;AF_asj=0.7241;AF_oth=0.7537;non_topmed_AF_popmax=0.7629;non_neuro_AF_popmax=0.7591;non_cancer_AF_popmax=.;controls_AF_popmax=0.7557;Kaviar_AF=0.695211;Kaviar_AC=107481;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227071383 rs59683545 C T 100 PASS AC=1;AF=0.0219649;AN=214;NS=2504;DP=15111;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.059;EUR_AF=0.001;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59683545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0517;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0260;ExAC_nontcga_SAS=0.0271;AF=0.0173;AF_popmax=0.0574;AF_male=0.0171;AF_female=0.0176;AF_raw=0.0173;AF_afr=0.0574;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0174;AF_oth=0.0064;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0624;non_cancer_AF_popmax=.;controls_AF_popmax=0.0607;Kaviar_AF=0.0099611;Kaviar_AC=1540;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071449 rs58973334 G A 100 PASS AC=1;AF=0.0179712;AN=214;NS=2504;DP=14556;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0461;EUR_AF=0.001;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.G185A:p.R62H,PSEN2:NM_012486:exon5:c.G185A:p.R62H;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58973334;CLNALLELEID=103887;CLNDN=Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.206;SIFT_converted_rankscore=0.275;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.236;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.548;LRT_converted_rankscore=0.053;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-6.68;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.356;PROVEAN_pred=N;VEST3_score=0.043;VEST3_rankscore=0.036;MetaSVM_score=0.771;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.404;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.294;REVEL_rankscore=0.618;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.001;CADD_raw_rankscore=0.301;CADD_phred=16.22;DANN_score=0.997;DANN_rankscore=0.802;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.109;Eigen-PC-raw=-1.091;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-4.6;GERP++_RS_rankscore=0.031;phyloP100way_vertebrate=-1.497;phyloP100way_vertebrate_rankscore=0.024;phyloP20way_mammalian=0.085;phyloP20way_mammalian_rankscore=0.192;phastCons100way_vertebrate=0.006;phastCons100way_vertebrate_rankscore=0.172;phastCons20way_mammalian=0.904;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=7.020;SiPhy_29way_logOdds_rankscore=0.239;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0407;ExAC_nontcga_AMR=0.0076;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0264;AF=0.0142;AF_popmax=0.0458;AF_male=0.0139;AF_female=0.0145;AF_raw=0.0143;AF_afr=0.0458;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0.0172;AF_oth=0.0074;non_topmed_AF_popmax=0.0460;non_neuro_AF_popmax=0.0480;non_cancer_AF_popmax=.;controls_AF_popmax=0.0476;Kaviar_AF=0.0091267;Kaviar_AC=1411;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.143693;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071475 rs140501902 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=14568;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C211T:p.R71W,PSEN2:NM_012486:exon5:c.C211T:p.R71W;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140501902;CLNALLELEID=189390;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.828;Polyphen2_HDIV_rankscore=0.441;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_converted_rankscore=0.309;LRT_pred=N;MutationTaster_score=0.644;MutationTaster_converted_rankscore=0.317;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-6.76;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-3.32;PROVEAN_converted_rankscore=0.678;PROVEAN_pred=D;VEST3_score=0.789;VEST3_rankscore=0.779;MetaSVM_score=0.973;MetaSVM_rankscore=0.968;MetaSVM_pred=D;MetaLR_score=0.893;MetaLR_rankscore=0.965;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.610;REVEL_rankscore=0.849;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.492;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.966;fathmm-MKL_coding_score=0.893;fathmm-MKL_coding_rankscore=0.494;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.317;Eigen-PC-raw=-0.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.92;GERP++_RS_rankscore=0.329;phyloP100way_vertebrate=1.505;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.158;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=11.913;SiPhy_29way_logOdds_rankscore=0.518;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0048;AF_popmax=0.0047;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0199;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.227454;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227071525 rs1046240 C T 100 PASS AC=141;AF=0.443291;AN=214;NS=2504;DP=14633;EAS_AF=0.3859;AMR_AF=0.4827;AFR_AF=0.3646;EUR_AF=0.5934;SAS_AF=0.4264;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;1000g2015aug_all=0.443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1046240;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5395;ExAC_nontcga_ALL=0.4977;ExAC_nontcga_AFR=0.3890;ExAC_nontcga_AMR=0.5155;ExAC_nontcga_EAS=0.4045;ExAC_nontcga_FIN=0.5331;ExAC_nontcga_NFE=0.5452;ExAC_nontcga_OTH=0.5418;ExAC_nontcga_SAS=0.4165;AF=0.4782;AF_popmax=0.5414;AF_male=0.4717;AF_female=0.4863;AF_raw=0.4778;AF_afr=0.3855;AF_sas=.;AF_amr=0.5414;AF_eas=0.3885;AF_nfe=0.5191;AF_fin=0.5276;AF_asj=0.6;AF_oth=0.5268;non_topmed_AF_popmax=0.5371;non_neuro_AF_popmax=0.5379;non_cancer_AF_popmax=.;controls_AF_popmax=0.5569;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.494062;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 227071564 rs200801915 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14098;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C300T:p.I100I,PSEN2:NM_012486:exon5:c.C300T:p.I100I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200801915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.192e-05;AF_popmax=.;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338584;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227073410 rs2236910 G C 100 PASS AC=169;AF=0.735623;AN=214;NS=2504;DP=17216;EAS_AF=0.5427;AMR_AF=0.7176;AFR_AF=0.8313;EUR_AF=0.8022;SAS_AF=0.7495;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.735623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2236910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.78;ExAC_nontcga_ALL=0.7607;ExAC_nontcga_AFR=0.8179;ExAC_nontcga_AMR=0.7393;ExAC_nontcga_EAS=0.5606;ExAC_nontcga_FIN=0.7868;ExAC_nontcga_NFE=0.7840;ExAC_nontcga_OTH=0.7834;ExAC_nontcga_SAS=0.7509;AF=0.7700;AF_popmax=0.8183;AF_male=0.7638;AF_female=0.7777;AF_raw=0.7694;AF_afr=0.8183;AF_sas=.;AF_amr=0.7559;AF_eas=0.5417;AF_nfe=0.7633;AF_fin=0.7810;AF_asj=0.7604;AF_oth=0.7796;non_topmed_AF_popmax=0.8191;non_neuro_AF_popmax=0.8190;non_cancer_AF_popmax=.;controls_AF_popmax=0.8183;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227073420 rs144791481 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17434;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144791481;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0023;AF_male=0.0017;AF_female=0.0008;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227075920 rs149734051 A G 100 PASS AC=2;AF=0.00419329;AN=214;NS=2504;DP=18068;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149734051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0113;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0165;AF_popmax=0.0209;AF_male=0.0152;AF_female=0.0182;AF_raw=0.0166;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0209;AF_fin=0.0461;AF_asj=0;AF_oth=0.0184;non_topmed_AF_popmax=0.0256;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.038;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227075939 rs1800679 C T 100 PASS AC=4;AF=0.00838658;AN=214;NS=2504;DP=17251;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0153;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800679;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0122;AF_popmax=0.0248;AF_male=0.0126;AF_female=0.0118;AF_raw=0.0123;AF_afr=0.0046;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0184;AF_fin=0.0040;AF_asj=0.0517;AF_oth=0.0101;non_topmed_AF_popmax=0.0222;non_neuro_AF_popmax=0.0271;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0174043;Kaviar_AC=453;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227076653 rs145010538 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18979;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.C690G:p.A230A,PSEN2:NM_012486:exon8:c.C690G:p.A230A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145010538;CLNALLELEID=279635;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.370835;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227076671 rs61730652 T C 100 PASS AC=5;AF=0.0291534;AN=214;NS=2504;DP=18772;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0893;EUR_AF=0.0129;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.T708C:p.S236S,PSEN2:NM_012486:exon8:c.T708C:p.S236S;1000g2015aug_all=0.0291534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61730652;CLNALLELEID=249751;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0130;ExAC_nontcga_AFR=0.0916;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0052;AF=0.0275;AF_popmax=0.0857;AF_male=0.0280;AF_female=0.0269;AF_raw=0.0277;AF_afr=0.0857;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0012;AF_asj=0.0241;AF_oth=0.0092;non_topmed_AF_popmax=0.0858;non_neuro_AF_popmax=0.0871;non_cancer_AF_popmax=.;controls_AF_popmax=0.0840;Kaviar_AF=0.0127941;Kaviar_AC=1978;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.319730;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 227078955 rs2802267 T C 100 PASS AC=169;AF=0.722843;AN=214;NS=2504;DP=18088;EAS_AF=0.5565;AMR_AF=0.7104;AFR_AF=0.7753;EUR_AF=0.8022;SAS_AF=0.7505;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2802267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7797;ExAC_nontcga_ALL=0.7645;ExAC_nontcga_AFR=0.7743;ExAC_nontcga_AMR=0.7452;ExAC_nontcga_EAS=0.5923;ExAC_nontcga_FIN=0.7959;ExAC_nontcga_NFE=0.7893;ExAC_nontcga_OTH=0.7934;ExAC_nontcga_SAS=0.7587;AF=0.7570;AF_popmax=0.7678;AF_male=0.7514;AF_female=0.7640;AF_raw=0.7566;AF_afr=0.7678;AF_sas=.;AF_amr=0.7541;AF_eas=0.5606;AF_nfe=0.7634;AF_fin=0.7814;AF_asj=0.7639;AF_oth=0.7827;non_topmed_AF_popmax=0.7680;non_neuro_AF_popmax=0.7694;non_cancer_AF_popmax=.;controls_AF_popmax=0.7730;Kaviar_AF=0.741077;Kaviar_AC=114572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 1|1 +1 227081850 rs2855562 G A 100 PASS AC=146;AF=0.574081;AN=214;NS=2504;DP=15765;EAS_AF=0.6052;AMR_AF=0.6297;AFR_AF=0.4803;EUR_AF=0.6223;SAS_AF=0.5798;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.574081;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2855562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5608;ExAC_nontcga_ALL=0.5794;ExAC_nontcga_AFR=0.4955;ExAC_nontcga_AMR=0.6766;ExAC_nontcga_EAS=0.6543;ExAC_nontcga_FIN=0.6065;ExAC_nontcga_NFE=0.5714;ExAC_nontcga_OTH=0.6012;ExAC_nontcga_SAS=0.5372;AF=0.5433;AF_popmax=0.6686;AF_male=0.5400;AF_female=0.5474;AF_raw=0.5431;AF_afr=0.4893;AF_sas=.;AF_amr=0.6686;AF_eas=0.6573;AF_nfe=0.5395;AF_fin=0.5937;AF_asj=0.6276;AF_oth=0.5827;non_topmed_AF_popmax=0.6691;non_neuro_AF_popmax=0.6573;non_cancer_AF_popmax=.;controls_AF_popmax=0.6504;Kaviar_AF=0.556481;Kaviar_AC=86033;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|1 +1 228399482 rs11804508 C G 100 PASS AC=143;AF=0.721046;AN=214;NS=2504;DP=13643;EAS_AF=0.8313;AMR_AF=0.6427;AFR_AF=0.6815;EUR_AF=0.6362;SAS_AF=0.8037;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=OBSCN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.721046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11804508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6129;ExAC_nontcga_ALL=0.6591;ExAC_nontcga_AFR=0.6731;ExAC_nontcga_AMR=0.6061;ExAC_nontcga_EAS=0.8236;ExAC_nontcga_FIN=0.6696;ExAC_nontcga_NFE=0.6195;ExAC_nontcga_OTH=0.6808;ExAC_nontcga_SAS=0.7882;AF=0.6394;AF_popmax=0.8353;AF_male=0.6417;AF_female=0.6366;AF_raw=0.6394;AF_afr=0.6588;AF_sas=.;AF_amr=0.5908;AF_eas=0.8353;AF_nfe=0.6102;AF_fin=0.6430;AF_asj=0.6345;AF_oth=0.6460;non_topmed_AF_popmax=0.8351;non_neuro_AF_popmax=0.8353;non_cancer_AF_popmax=.;controls_AF_popmax=0.8274;Kaviar_AF=0.576681;Kaviar_AC=89156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.339343;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228399519 rs191837710 T A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=13197;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T35A:p.F12Y,OBSCN:NM_001271223:exon2:c.T35A:p.F12Y,OBSCN:NM_052843:exon2:c.T35A:p.F12Y;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191837710;CLNALLELEID=513507;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.093;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.065;MutationAssessor_score_rankscore=0.873;MutationAssessor_pred=M;FATHMM_score=-0.71;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-1.75;PROVEAN_converted_rankscore=0.441;PROVEAN_pred=N;VEST3_score=0.393;VEST3_rankscore=0.452;MetaSVM_score=0.295;MetaSVM_rankscore=0.875;MetaSVM_pred=D;MetaLR_score=0.526;MetaLR_rankscore=0.824;MetaLR_pred=D;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.669;REVEL_rankscore=0.879;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.232;CADD_raw_rankscore=0.448;CADD_phred=22.8;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.977;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.688;Eigen-PC-raw=0.553;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=6.150;phyloP100way_vertebrate_rankscore=0.714;phyloP20way_mammalian=0.924;phyloP20way_mammalian_rankscore=0.433;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.510;phastCons20way_mammalian_rankscore=0.273;SiPhy_29way_logOdds=14.260;SiPhy_29way_logOdds_rankscore=0.655;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0056;ExAC_nontcga_SAS=0.0016;AF=0.0028;AF_popmax=0.0046;AF_male=0.0025;AF_female=0.0032;AF_raw=0.0028;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0046;AF_fin=0.0014;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0034088;Kaviar_AC=527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.767242;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228399671 rs117484136 G A 100 PASS AC=2;AF=0.0245607;AN=214;NS=2504;DP=10690;EAS_AF=0.0645;AMR_AF=0.0014;AFR_AF=0.0303;EUR_AF=0.003;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.G187A:p.D63N,OBSCN:NM_001271223:exon2:c.G187A:p.D63N,OBSCN:NM_052843:exon2:c.G187A:p.D63N;1000g2015aug_all=0.0245607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117484136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.515;SIFT_converted_rankscore=0.178;SIFT_pred=T;Polyphen2_HDIV_score=0.881;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.281;Polyphen2_HVAR_rankscore=0.386;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.635;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.635;MutationAssessor_score_rankscore=0.160;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.008;VEST3_rankscore=0.020;MetaSVM_score=-1.095;MetaSVM_rankscore=0.047;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.073;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.150;CADD_raw_rankscore=0.556;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.861;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.779;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.110;Eigen-PC-raw=0.229;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=5.753;phyloP100way_vertebrate_rankscore=0.682;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.749;phastCons20way_mammalian_rankscore=0.321;SiPhy_29way_logOdds=11.127;SiPhy_29way_logOdds_rankscore=0.474;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0179;ExAC_nontcga_AFR=0.0378;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.1128;ExAC_nontcga_FIN=0.0121;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0179;ExAC_nontcga_SAS=0.0141;AF=0.0112;AF_popmax=0.0644;AF_male=0.0113;AF_female=0.0112;AF_raw=0.0113;AF_afr=0.0223;AF_sas=.;AF_amr=0.0035;AF_eas=0.0644;AF_nfe=0.0016;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0653;non_neuro_AF_popmax=0.0644;non_cancer_AF_popmax=.;controls_AF_popmax=0.0637;Kaviar_AF=0.0085769;Kaviar_AC=1326;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.227586;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228399766 rs55971985 T C 100 PASS AC=143;AF=0.726238;AN=214;NS=2504;DP=9624;EAS_AF=0.8244;AMR_AF=0.6441;AFR_AF=0.7057;EUR_AF=0.6372;SAS_AF=0.8027;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;1000g2015aug_all=0.726238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55971985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6178;ExAC_nontcga_ALL=0.6992;ExAC_nontcga_AFR=0.7018;ExAC_nontcga_AMR=0.6365;ExAC_nontcga_EAS=0.8323;ExAC_nontcga_FIN=0.7538;ExAC_nontcga_NFE=0.6251;ExAC_nontcga_OTH=0.6061;ExAC_nontcga_SAS=0.7566;AF=0.6451;AF_popmax=0.8222;AF_male=0.6474;AF_female=0.6421;AF_raw=0.6445;AF_afr=0.6794;AF_sas=.;AF_amr=0.5928;AF_eas=0.8222;AF_nfe=0.6103;AF_fin=0.6440;AF_asj=0.6345;AF_oth=0.6537;non_topmed_AF_popmax=0.8223;non_neuro_AF_popmax=0.8222;non_cancer_AF_popmax=.;controls_AF_popmax=0.8129;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.799616;ALLELE_END;VINYL_score=2 GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228399799 rs11582369 C T 100 PASS AC=3;AF=0.0507188;AN=214;NS=2504;DP=8585;EAS_AF=0.121;AMR_AF=0.0591;AFR_AF=0.0129;EUR_AF=0.0338;SAS_AF=0.0409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.C315T:p.C105C,OBSCN:NM_001271223:exon2:c.C315T:p.C105C,OBSCN:NM_052843:exon2:c.C315T:p.C105C;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11582369;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.037;ExAC_nontcga_ALL=0.0404;ExAC_nontcga_AFR=0.0382;ExAC_nontcga_AMR=0.0887;ExAC_nontcga_EAS=0.1203;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0467;ExAC_nontcga_OTH=0.0574;ExAC_nontcga_SAS=0.0348;AF=0.0446;AF_popmax=0.1155;AF_male=0.0450;AF_female=0.0441;AF_raw=0.0448;AF_afr=0.0179;AF_sas=.;AF_amr=0.0639;AF_eas=0.1155;AF_nfe=0.0477;AF_fin=0.0623;AF_asj=0.0172;AF_oth=0.0491;non_topmed_AF_popmax=0.1164;non_neuro_AF_popmax=0.1155;non_cancer_AF_popmax=.;controls_AF_popmax=0.1239;Kaviar_AF=0.0192236;Kaviar_AC=2972;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.686199;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228401183 rs569727649 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=7355;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.G1030C:p.V344L,OBSCN:NM_001271223:exon3:c.G1030C:p.V344L,OBSCN:NM_052843:exon3:c.G1030C:p.V344L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569727649;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.152;SIFT_converted_rankscore=0.424;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.75;MutationAssessor_score_rankscore=0.806;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.366;VEST3_rankscore=0.427;MetaSVM_score=0.060;MetaSVM_rankscore=0.834;MetaSVM_pred=D;MetaLR_score=0.572;MetaLR_rankscore=0.845;MetaLR_pred=D;M-CAP_score=0.078;M-CAP_rankscore=0.731;M-CAP_pred=D;REVEL_score=0.522;REVEL_rankscore=0.800;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.903;CADD_raw_rankscore=0.659;CADD_phred=24.9;DANN_score=0.996;DANN_rankscore=0.713;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.738;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.913;Eigen-PC-raw=0.882;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.564;integrated_fitCons_score_rankscore=0.319;integrated_confidence_value=0;GERP++_RS=5.47;GERP++_RS_rankscore=0.803;phyloP100way_vertebrate=9.818;phyloP100way_vertebrate_rankscore=0.983;phyloP20way_mammalian=1.029;phyloP20way_mammalian_rankscore=0.652;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=19.308;SiPhy_29way_logOdds_rankscore=0.941;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0045;AF=0.0001;AF_popmax=0.0002;AF_male=5.727e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1850440|N/A|RB1|PAZAR,OREG1507123|N/A|EGR1|PAZAR,OREG1820737|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.127294;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228401329 rs185717159 C T 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=6657;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon3:c.C1176T:p.R392R,OBSCN:NM_001271223:exon3:c.C1176T:p.R392R,OBSCN:NM_052843:exon3:c.C1176T:p.R392R;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185717159;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0074;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0006;AF=0.0042;AF_popmax=0.0066;AF_male=0.0046;AF_female=0.0037;AF_raw=0.0042;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0017;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0032147;Kaviar_AC=497;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1820737|N/A|RBL2|PAZAR,OREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.907049;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228402047 rs1620111 A G 100 PASS AC=143;AF=0.719848;AN=214;NS=2504;DP=12933;EAS_AF=0.8244;AMR_AF=0.6427;AFR_AF=0.6808;EUR_AF=0.6372;SAS_AF=0.8047;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;1000g2015aug_all=0.719848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1620111;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6095;ExAC_nontcga_ALL=0.6574;ExAC_nontcga_AFR=0.6606;ExAC_nontcga_AMR=0.6027;ExAC_nontcga_EAS=0.8098;ExAC_nontcga_FIN=0.6609;ExAC_nontcga_NFE=0.6125;ExAC_nontcga_OTH=0.6609;ExAC_nontcga_SAS=0.7669;AF=0.6393;AF_popmax=0.8192;AF_male=0.6413;AF_female=0.6367;AF_raw=0.6393;AF_afr=0.6609;AF_sas=.;AF_amr=0.5908;AF_eas=0.8192;AF_nfe=0.6102;AF_fin=0.6428;AF_asj=0.6345;AF_oth=0.6479;non_topmed_AF_popmax=0.8193;non_neuro_AF_popmax=0.8192;non_cancer_AF_popmax=.;controls_AF_popmax=0.8107;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.279925;ALLELE_END;VINYL_score=3 GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228402097 rs190195191 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15529;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.C1481G:p.A494G,OBSCN:NM_001271223:exon4:c.C1481G:p.A494G,OBSCN:NM_052843:exon4:c.C1481G:p.A494G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190195191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.841;Polyphen2_HDIV_rankscore=0.477;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.43;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.35;MutationAssessor_score_rankscore=0.913;MutationAssessor_pred=M;FATHMM_score=-1.49;FATHMM_converted_rankscore=0.812;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.375;VEST3_rankscore=0.444;MetaSVM_score=0.236;MetaSVM_rankscore=0.865;MetaSVM_pred=D;MetaLR_score=0.603;MetaLR_rankscore=0.859;MetaLR_pred=D;M-CAP_score=0.107;M-CAP_rankscore=0.783;M-CAP_pred=D;REVEL_score=0.463;REVEL_rankscore=0.762;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.698;CADD_raw_rankscore=0.502;CADD_phred=23.3;DANN_score=0.971;DANN_rankscore=0.318;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.711;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.219;Eigen-PC-raw=0.121;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.767;integrated_fitCons_score_rankscore=0.994;integrated_confidence_value=0;GERP++_RS=4.34;GERP++_RS_rankscore=0.511;phyloP100way_vertebrate=2.621;phyloP100way_vertebrate_rankscore=0.458;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.069;phastCons20way_mammalian_rankscore=0.175;SiPhy_29way_logOdds=15.757;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.294174;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228402121 rs1771487 A G 100 PASS AC=142;AF=0.719649;AN=214;NS=2504;DP=13804;EAS_AF=0.8244;AMR_AF=0.6427;AFR_AF=0.6815;EUR_AF=0.6362;SAS_AF=0.8037;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;1000g2015aug_all=0.719649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771487;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.901;SIFT_converted_rankscore=0.242;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.513;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=0.62;MutationAssessor_score_rankscore=0.158;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_converted_rankscore=0.760;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.302;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.331;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.997;DANN_rankscore=0.778;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.306;Eigen-PC-raw=-0.081;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.767;integrated_fitCons_score_rankscore=0.994;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=3.899;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.348;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=15.165;SiPhy_29way_logOdds_rankscore=0.724;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162910.14|ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000162910.14|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6065;ExAC_nontcga_ALL=0.6572;ExAC_nontcga_AFR=0.6598;ExAC_nontcga_AMR=0.6025;ExAC_nontcga_EAS=0.8097;ExAC_nontcga_FIN=0.6616;ExAC_nontcga_NFE=0.6122;ExAC_nontcga_OTH=0.6609;ExAC_nontcga_SAS=0.7669;AF=0.6393;AF_popmax=0.8206;AF_male=0.6417;AF_female=0.6364;AF_raw=0.6390;AF_afr=0.6598;AF_sas=.;AF_amr=0.5912;AF_eas=0.8206;AF_nfe=0.6108;AF_fin=0.6431;AF_asj=0.6345;AF_oth=0.6470;non_topmed_AF_popmax=0.8208;non_neuro_AF_popmax=0.8206;non_cancer_AF_popmax=.;controls_AF_popmax=0.8125;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.607743;ALLELE_END;VINYL_score=4.5 GT 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 +1 228402508 rs2776853 C T 100 PASS AC=70;AF=0.275759;AN=214;NS=2504;DP=17070;EAS_AF=0.1706;AMR_AF=0.353;AFR_AF=0.3086;EUR_AF=0.3618;SAS_AF=0.1963;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1537T:p.L513L,OBSCN:NM_001271223:exon5:c.C1537T:p.L513L,OBSCN:NM_052843:exon5:c.C1537T:p.L513L;1000g2015aug_all=0.275759;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2776853;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3900;ExAC_nontcga_ALL=0.3613;ExAC_nontcga_AFR=0.3615;ExAC_nontcga_AMR=0.4150;ExAC_nontcga_EAS=0.1976;ExAC_nontcga_FIN=0.3585;ExAC_nontcga_NFE=0.4010;ExAC_nontcga_OTH=0.3580;ExAC_nontcga_SAS=0.2636;AF=0.3591;AF_popmax=0.4057;AF_male=0.3575;AF_female=0.3611;AF_raw=0.3592;AF_afr=0.3369;AF_sas=.;AF_amr=0.4057;AF_eas=0.1757;AF_nfe=0.3886;AF_fin=0.3565;AF_asj=0.3655;AF_oth=0.3508;non_topmed_AF_popmax=0.4012;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.339226;Kaviar_AC=52445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 0|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228402639 rs555741607 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17923;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1668T:p.G556G,OBSCN:NM_001271223:exon5:c.C1668T:p.G556G,OBSCN:NM_052843:exon5:c.C1668T:p.G556G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555741607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.715e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.88e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228403476 rs200396174 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17846;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon6:c.C2041G:p.Q681E,OBSCN:NM_001271223:exon6:c.C2041G:p.Q681E,OBSCN:NM_052843:exon6:c.C2041G:p.Q681E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200396174;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.398;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=0.7;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.03;PROVEAN_converted_rankscore=0.080;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.109;MetaSVM_score=-1.091;MetaSVM_rankscore=0.053;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.421;M-CAP_pred=T;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=0.559;MutPred_rankscore=0.679;CADD_raw=-1.394;CADD_raw_rankscore=0.019;CADD_phred=0.003;DANN_score=0.602;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.030;fathmm-MKL_coding_rankscore=0.077;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.824;Eigen-PC-raw=-0.729;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.420;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=1.85;GERP++_RS_rankscore=0.243;phyloP100way_vertebrate=1.283;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.038;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.725;phastCons100way_vertebrate_rankscore=0.286;phastCons20way_mammalian=0.202;phastCons20way_mammalian_rankscore=0.218;SiPhy_29way_logOdds=11.366;SiPhy_29way_logOdds_rankscore=0.487;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507134|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.715202;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228403500 rs549243439 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18019;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon6:c.A2065C:p.I689L,OBSCN:NM_001271223:exon6:c.A2065C:p.I689L,OBSCN:NM_052843:exon6:c.A2065C:p.I689L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549243439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.544;SIFT_converted_rankscore=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.201;Polyphen2_HDIV_rankscore=0.280;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.239;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.327;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.26;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_converted_rankscore=0.314;PROVEAN_pred=N;VEST3_score=0.137;VEST3_rankscore=0.244;MetaSVM_score=-0.972;MetaSVM_rankscore=0.368;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.497;MetaLR_pred=T;M-CAP_score=0.062;M-CAP_rankscore=0.686;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=0.503;MutPred_rankscore=0.597;CADD_raw=0.728;CADD_raw_rankscore=0.163;CADD_phred=9.010;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.380;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.790;Eigen-PC-raw=-0.743;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.98;GERP++_RS_rankscore=0.452;phyloP100way_vertebrate=-0.227;phyloP100way_vertebrate_rankscore=0.091;phyloP20way_mammalian=0.243;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.882;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=10.657;SiPhy_29way_logOdds_rankscore=0.447;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507134|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404198 rs61501937 G A 100 PASS AC=3;AF=0.0535144;AN=214;NS=2504;DP=13324;EAS_AF=0.119;AMR_AF=0.0562;AFR_AF=0.0219;EUR_AF=0.0338;SAS_AF=0.047;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2172A:p.A724A,OBSCN:NM_001271223:exon7:c.G2172A:p.A724A,OBSCN:NM_052843:exon7:c.G2172A:p.A724A;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61501937;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0367;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.1433;ExAC_nontcga_EAS=0.1939;ExAC_nontcga_FIN=0.1338;ExAC_nontcga_NFE=0.0954;ExAC_nontcga_OTH=0.0968;ExAC_nontcga_SAS=0.0461;AF=0.0481;AF_popmax=0.1173;AF_male=0.0491;AF_female=0.0468;AF_raw=0.0481;AF_afr=0.0305;AF_sas=.;AF_amr=0.0697;AF_eas=0.1173;AF_nfe=0.0462;AF_fin=0.0633;AF_asj=0.0483;AF_oth=0.0506;non_topmed_AF_popmax=0.1183;non_neuro_AF_popmax=0.1173;non_cancer_AF_popmax=.;controls_AF_popmax=0.1255;Kaviar_AF=0.0294563;Kaviar_AC=4554;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.581921;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228404305 rs180689095 G A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=14624;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2279A:p.R760Q,OBSCN:NM_001271223:exon7:c.G2279A:p.R760Q,OBSCN:NM_052843:exon7:c.G2279A:p.R760Q;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs180689095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.612;SIFT_converted_rankscore=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.238;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.481;LRT_converted_rankscore=0.050;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.236;MutationTaster_pred=N;MutationAssessor_score=0.94;MutationAssessor_score_rankscore=0.237;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.389;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.040;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.414;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.165;REVEL_rankscore=0.429;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.246;CADD_raw_rankscore=0.072;CADD_phred=0.876;DANN_score=0.840;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.028;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.425;Eigen-PC-raw=-1.499;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.372;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-5.63;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-0.249;phyloP100way_vertebrate_rankscore=0.088;phyloP20way_mammalian=-0.785;phyloP20way_mammalian_rankscore=0.033;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=14.566;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0084;ExAC_nontcga_ALL=0.0126;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0186;ExAC_nontcga_OTH=0.0196;ExAC_nontcga_SAS=0.0086;AF=0.0060;AF_popmax=0.0086;AF_male=0.0056;AF_female=0.0065;AF_raw=0.0060;AF_afr=0.0023;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0049935;Kaviar_AC=772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404368 rs144514297 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14889;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2342A:p.R781H,OBSCN:NM_001271223:exon7:c.G2342A:p.R781H,OBSCN:NM_052843:exon7:c.G2342A:p.R781H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144514297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.209;SIFT_converted_rankscore=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_rankscore=0.200;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.339;LRT_converted_rankscore=0.042;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.195;MutationAssessor_score_rankscore=0.092;MutationAssessor_pred=N;FATHMM_score=3.5;FATHMM_converted_rankscore=0.050;FATHMM_pred=T;PROVEAN_score=-0.58;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.041;MetaSVM_score=-0.932;MetaSVM_rankscore=0.438;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.045;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.162;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.297;CADD_raw_rankscore=0.123;CADD_phred=5.666;DANN_score=0.851;DANN_rankscore=0.152;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.413;Eigen-PC-raw=-1.448;GenoCanyon_score=0.911;GenoCanyon_score_rankscore=0.263;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=-3.06;GERP++_RS_rankscore=0.050;phyloP100way_vertebrate=-1.697;phyloP100way_vertebrate_rankscore=0.020;phyloP20way_mammalian=-0.840;phyloP20way_mammalian_rankscore=0.030;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.016;phastCons20way_mammalian_rankscore=0.126;SiPhy_29way_logOdds=6.078;SiPhy_29way_logOdds_rankscore=0.190;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0053;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404668 rs3795777 T C 100 PASS AC=74;AF=0.336462;AN=214;NS=2504;DP=18009;EAS_AF=0.3502;AMR_AF=0.3473;AFR_AF=0.3616;EUR_AF=0.3688;SAS_AF=0.2474;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336462;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795777;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3954;ExAC_nontcga_ALL=0.3811;ExAC_nontcga_AFR=0.3907;ExAC_nontcga_AMR=0.4159;ExAC_nontcga_EAS=0.3954;ExAC_nontcga_FIN=0.3501;ExAC_nontcga_NFE=0.4056;ExAC_nontcga_OTH=0.3786;ExAC_nontcga_SAS=0.2767;AF=0.3846;AF_popmax=0.4269;AF_male=0.3856;AF_female=0.3834;AF_raw=0.3847;AF_afr=0.3775;AF_sas=.;AF_amr=0.4269;AF_eas=0.3479;AF_nfe=0.3960;AF_fin=0.3682;AF_asj=0.3897;AF_oth=0.3527;non_topmed_AF_popmax=0.4259;non_neuro_AF_popmax=0.4440;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.341697;Kaviar_AC=52827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228404901 rs572638996 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15393;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon8:c.G2565A:p.L855L,OBSCN:NM_001271223:exon8:c.G2565A:p.L855L,OBSCN:NM_052843:exon8:c.G2565A:p.L855L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572638996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228404997 rs115777899 C T 100 PASS AC=6;AF=0.0169728;AN=214;NS=2504;DP=16437;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0358;SAS_AF=0.0389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115777899;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0314;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0270;ExAC_nontcga_SAS=0.0499;AF=0.0262;AF_popmax=0.0417;AF_male=0.0262;AF_female=0.0263;AF_raw=0.0263;AF_afr=0.0065;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0417;AF_fin=0.0225;AF_asj=0.0241;AF_oth=0.0258;non_topmed_AF_popmax=0.0417;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0394;Kaviar_AF=0.0304783;Kaviar_AC=4712;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507133|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407010 rs1757158 C T 100 PASS AC=72;AF=0.285343;AN=214;NS=2504;DP=20731;EAS_AF=0.1756;AMR_AF=0.3545;AFR_AF=0.3427;EUR_AF=0.3579;SAS_AF=0.1973;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285343;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757158;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4088;ExAC_nontcga_AFR=0.4364;ExAC_nontcga_AMR=0.4966;ExAC_nontcga_EAS=0.2657;ExAC_nontcga_FIN=0.4069;ExAC_nontcga_NFE=0.4492;ExAC_nontcga_OTH=0.4116;ExAC_nontcga_SAS=0.2760;AF=0.3674;AF_popmax=0.4080;AF_male=0.3667;AF_female=0.3684;AF_raw=0.3674;AF_afr=0.3708;AF_sas=.;AF_amr=0.4080;AF_eas=0.1797;AF_nfe=0.3852;AF_fin=0.3607;AF_asj=0.3655;AF_oth=0.3490;non_topmed_AF_popmax=0.4037;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3943;Kaviar_AF=0.322253;Kaviar_AC=49821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228407059 rs141906801 G T 100 PASS AC=5;AF=0.0135783;AN=214;NS=2504;DP=21064;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0308;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2688T:p.A896A;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141906801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0276;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0.0124;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0241;ExAC_nontcga_NFE=0.0372;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0310;AF=0.0236;AF_popmax=0.0374;AF_male=0.0236;AF_female=0.0237;AF_raw=0.0236;AF_afr=0.0061;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0374;AF_fin=0.0196;AF_asj=0.0241;AF_oth=0.0239;non_topmed_AF_popmax=0.0374;non_neuro_AF_popmax=0.0372;non_cancer_AF_popmax=.;controls_AF_popmax=0.0353;Kaviar_AF=0.0252843;Kaviar_AC=3909;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407260 rs1771484 G A 100 PASS AC=72;AF=0.277157;AN=214;NS=2504;DP=19787;EAS_AF=0.1746;AMR_AF=0.3487;AFR_AF=0.3147;EUR_AF=0.3588;SAS_AF=0.1973;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2889A:p.E963E;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771484;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3811;ExAC_nontcga_AFR=0.3825;ExAC_nontcga_AMR=0.4367;ExAC_nontcga_EAS=0.2217;ExAC_nontcga_FIN=0.3782;ExAC_nontcga_NFE=0.4159;ExAC_nontcga_OTH=0.3834;ExAC_nontcga_SAS=0.2860;AF=0.3586;AF_popmax=0.4057;AF_male=0.3587;AF_female=0.3586;AF_raw=0.3590;AF_afr=0.3401;AF_sas=.;AF_amr=0.4057;AF_eas=0.1804;AF_nfe=0.3848;AF_fin=0.3602;AF_asj=0.3655;AF_oth=0.3474;non_topmed_AF_popmax=0.4012;non_neuro_AF_popmax=0.4224;non_cancer_AF_popmax=.;controls_AF_popmax=0.3943;Kaviar_AF=0.319084;Kaviar_AC=49331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228407265 rs61560753 G A 100 PASS AC=1;AF=0.0429313;AN=214;NS=2504;DP=19953;EAS_AF=0.1181;AMR_AF=0.0519;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2894A:p.R965K;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61560753;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.59;FATHMM_converted_rankscore=0.046;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.971;CADD_raw_rankscore=0.187;CADD_phred=10.49;DANN_score=0.753;DANN_rankscore=0.107;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.866;Eigen-PC-raw=-0.038;GenoCanyon_score=0.026;GenoCanyon_score_rankscore=0.137;integrated_fitCons_score=0.284;integrated_fitCons_score_rankscore=0.042;integrated_confidence_value=0;GERP++_RS=4.6;GERP++_RS_rankscore=0.564;phyloP100way_vertebrate=0.440;phyloP100way_vertebrate_rankscore=0.212;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.902;phastCons20way_mammalian_rankscore=0.382;SiPhy_29way_logOdds=7.463;SiPhy_29way_logOdds_rankscore=0.263;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0508;ExAC_nontcga_AFR=0.0055;ExAC_nontcga_AMR=0.0827;ExAC_nontcga_EAS=0.1435;ExAC_nontcga_FIN=0.0697;ExAC_nontcga_NFE=0.0363;ExAC_nontcga_OTH=0.0469;ExAC_nontcga_SAS=0.0470;AF=0.0333;AF_popmax=0.1170;AF_male=0.0333;AF_female=0.0333;AF_raw=0.0334;AF_afr=0.0053;AF_sas=.;AF_amr=0.0554;AF_eas=0.1170;AF_nfe=0.0338;AF_fin=0.0576;AF_asj=0.0034;AF_oth=0.0432;non_topmed_AF_popmax=0.1179;non_neuro_AF_popmax=0.1170;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0318237;Kaviar_AC=4920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228407285 rs61537173 C T 100 PASS AC=2;AF=0.0307508;AN=214;NS=2504;DP=19961;EAS_AF=0.0694;AMR_AF=0.0058;AFR_AF=0.0461;EUR_AF=0.003;SAS_AF=0.0164;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.C2914T:p.R972C;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61537173;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.492;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.51;FATHMM_converted_rankscore=0.050;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.064;VEST3_rankscore=0.049;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.265;CADD_raw_rankscore=0.451;CADD_phred=22.8;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.119;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.099;Eigen-PC-raw=-0.158;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.094;integrated_fitCons_score=0.284;integrated_fitCons_score_rankscore=0.042;integrated_confidence_value=0;GERP++_RS=0.444;GERP++_RS_rankscore=0.157;phyloP100way_vertebrate=0.359;phyloP100way_vertebrate_rankscore=0.198;phyloP20way_mammalian=-0.357;phyloP20way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.023;phastCons100way_vertebrate_rankscore=0.197;phastCons20way_mammalian=0.020;phastCons20way_mammalian_rankscore=0.134;SiPhy_29way_logOdds=6.593;SiPhy_29way_logOdds_rankscore=0.217;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0655;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0.1161;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0242;ExAC_nontcga_SAS=0.0226;AF=0.0167;AF_popmax=0.0674;AF_male=0.0169;AF_female=0.0164;AF_raw=0.0167;AF_afr=0.0407;AF_sas=.;AF_amr=0.0047;AF_eas=0.0674;AF_nfe=0.0018;AF_fin=0.0072;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0684;non_neuro_AF_popmax=0.0674;non_cancer_AF_popmax=.;controls_AF_popmax=0.0677;Kaviar_AF=0.010388;Kaviar_AC=1606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228412106 rs1771482 T C 100 PASS AC=75;AF=0.412141;AN=214;NS=2504;DP=19939;EAS_AF=0.3839;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3658;SAS_AF=0.2577;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.412141;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771482;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4402;AF_popmax=0.5726;AF_male=0.4430;AF_female=0.4367;AF_raw=0.4403;AF_afr=0.5726;AF_sas=.;AF_amr=0.4657;AF_eas=0.3902;AF_nfe=0.3910;AF_fin=0.3705;AF_asj=0.3897;AF_oth=0.3672;non_topmed_AF_popmax=0.5728;non_neuro_AF_popmax=0.5797;non_cancer_AF_popmax=.;controls_AF_popmax=0.5741;Kaviar_AF=0.077347;Kaviar_AC=11958;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412227 rs1771480 T C 100 PASS AC=75;AF=0.41254;AN=214;NS=2504;DP=17552;EAS_AF=0.3849;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3668;SAS_AF=0.2577;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.T2721C:p.S907S,OBSCN:NM_052843:exon9:c.T2721C:p.S907S,OBSCN:NM_001271223:exon10:c.T2997C:p.S999S;1000g2015aug_all=0.41254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3990;ExAC_nontcga_AFR=0.5903;ExAC_nontcga_AMR=0.4789;ExAC_nontcga_EAS=0.4205;ExAC_nontcga_FIN=0.3488;ExAC_nontcga_NFE=0.3911;ExAC_nontcga_OTH=0.3619;ExAC_nontcga_SAS=0.2840;AF=0.4390;AF_popmax=0.5720;AF_male=0.4418;AF_female=0.4355;AF_raw=0.4396;AF_afr=0.5720;AF_sas=.;AF_amr=0.4632;AF_eas=0.3911;AF_nfe=0.3887;AF_fin=0.3702;AF_asj=0.3897;AF_oth=0.3683;non_topmed_AF_popmax=0.5722;non_neuro_AF_popmax=0.5781;non_cancer_AF_popmax=.;controls_AF_popmax=0.5732;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412228 rs1757153 G A 100 PASS AC=73;AF=0.284145;AN=214;NS=2504;DP=17550;EAS_AF=0.1756;AMR_AF=0.3559;AFR_AF=0.3351;EUR_AF=0.3618;SAS_AF=0.1963;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2722A:p.A908T,OBSCN:NM_052843:exon9:c.G2722A:p.A908T,OBSCN:NM_001271223:exon10:c.G2998A:p.A1000T;1000g2015aug_all=0.284145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757153;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.568;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.326;Polyphen2_HVAR_rankscore=0.521;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=0.005;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.965;MutationAssessor_score_rankscore=0.534;MutationAssessor_pred=M;FATHMM_score=3.36;FATHMM_converted_rankscore=0.703;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=N;VEST3_score=0.224;VEST3_rankscore=0.275;MetaSVM_score=-0.879;MetaSVM_rankscore=0.499;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.161;REVEL_rankscore=0.422;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.136;CADD_raw_rankscore=0.318;CADD_phred=17.09;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.650;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.127;Eigen-PC-raw=0.054;GenoCanyon_score=0.808;GenoCanyon_score_rankscore=0.243;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=3.620;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.131;phastCons20way_mammalian_rankscore=0.199;SiPhy_29way_logOdds=12.898;SiPhy_29way_logOdds_rankscore=0.573;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000162910.14|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3437;ExAC_nontcga_AFR=0.3609;ExAC_nontcga_AMR=0.3987;ExAC_nontcga_EAS=0.1918;ExAC_nontcga_FIN=0.3408;ExAC_nontcga_NFE=0.3853;ExAC_nontcga_OTH=0.3401;ExAC_nontcga_SAS=0.2337;AF=0.3634;AF_popmax=0.4050;AF_male=0.3630;AF_female=0.3639;AF_raw=0.3642;AF_afr=0.3583;AF_sas=.;AF_amr=0.4050;AF_eas=0.1791;AF_nfe=0.3841;AF_fin=0.3607;AF_asj=0.3655;AF_oth=0.3502;non_topmed_AF_popmax=0.4005;non_neuro_AF_popmax=0.4236;non_cancer_AF_popmax=.;controls_AF_popmax=0.3984;Kaviar_AF=0.325927;Kaviar_AC=50389;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412308 rs1757152 G A 100 PASS AC=75;AF=0.41254;AN=214;NS=2504;DP=19773;EAS_AF=0.3839;AMR_AF=0.402;AFR_AF=0.5885;EUR_AF=0.3678;SAS_AF=0.2577;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2802A:p.S934S,OBSCN:NM_052843:exon9:c.G2802A:p.S934S,OBSCN:NM_001271223:exon10:c.G3078A:p.S1026S;1000g2015aug_all=0.41254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757152;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3925;ExAC_nontcga_ALL=0.4000;ExAC_nontcga_AFR=0.5888;ExAC_nontcga_AMR=0.4781;ExAC_nontcga_EAS=0.4184;ExAC_nontcga_FIN=0.3495;ExAC_nontcga_NFE=0.3930;ExAC_nontcga_OTH=0.3663;ExAC_nontcga_SAS=0.2849;AF=0.4420;AF_popmax=0.5729;AF_male=0.4443;AF_female=0.4392;AF_raw=0.4420;AF_afr=0.5729;AF_sas=.;AF_amr=0.4670;AF_eas=0.3902;AF_nfe=0.3940;AF_fin=0.3710;AF_asj=0.3897;AF_oth=0.3708;non_topmed_AF_popmax=0.5732;non_neuro_AF_popmax=0.5802;non_cancer_AF_popmax=.;controls_AF_popmax=0.5744;Kaviar_AF=0.394186;Kaviar_AC=60942;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228412415 rs200058427 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.C2909T:p.S970F,OBSCN:NM_052843:exon9:c.C2909T:p.S970F,OBSCN:NM_001271223:exon10:c.C3185T:p.S1062F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200058427;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.142;SIFT_converted_rankscore=0.260;SIFT_pred=T;Polyphen2_HDIV_score=0.182;Polyphen2_HDIV_rankscore=0.275;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.225;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.077;LRT_converted_rankscore=0.211;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.72;MutationAssessor_score_rankscore=0.446;MutationAssessor_pred=L;FATHMM_score=3.22;FATHMM_converted_rankscore=0.070;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=N;VEST3_score=0.079;VEST3_rankscore=0.168;MetaSVM_score=-1.090;MetaSVM_rankscore=0.056;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.127;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.451;M-CAP_pred=T;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.038;CADD_raw_rankscore=0.194;CADD_phred=10.88;DANN_score=0.298;DANN_rankscore=0.016;fathmm-MKL_coding_score=0.813;fathmm-MKL_coding_rankscore=0.404;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.653;Eigen-PC-raw=-0.620;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.103;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=0.436;phyloP100way_vertebrate_rankscore=0.211;phyloP20way_mammalian=-0.471;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.074;phastCons100way_vertebrate_rankscore=0.220;phastCons20way_mammalian=0.078;phastCons20way_mammalian_rankscore=0.180;SiPhy_29way_logOdds=9.765;SiPhy_29way_logOdds_rankscore=0.395;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=6.369e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228431095 rs1771455 A G 100 PASS AC=122;AF=0.616613;AN=214;NS=2504;DP=18464;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7095;EUR_AF=0.6412;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;1000g2015aug_all=0.616613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1771455;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6828;ExAC_nontcga_ALL=0.6476;ExAC_nontcga_AFR=0.7080;ExAC_nontcga_AMR=0.6710;ExAC_nontcga_EAS=0.5802;ExAC_nontcga_FIN=0.7014;ExAC_nontcga_NFE=0.6811;ExAC_nontcga_OTH=0.6327;ExAC_nontcga_SAS=0.5012;AF=0.6876;AF_popmax=0.7029;AF_male=0.6859;AF_female=0.6898;AF_raw=0.6875;AF_afr=0.7029;AF_sas=.;AF_amr=0.6922;AF_eas=0.5432;AF_nfe=0.6897;AF_fin=0.7105;AF_asj=0.6241;AF_oth=0.6814;non_topmed_AF_popmax=0.7021;non_neuro_AF_popmax=0.7090;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228431930 rs10916293 C T 100 PASS AC=122;AF=0.616813;AN=214;NS=2504;DP=18740;EAS_AF=0.5982;AMR_AF=0.6527;AFR_AF=0.711;EUR_AF=0.6412;SAS_AF=0.4581;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.616813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10916293;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6882;AF_popmax=0.7036;AF_male=0.6862;AF_female=0.6908;AF_raw=0.6874;AF_afr=0.7036;AF_sas=.;AF_amr=0.6915;AF_eas=0.5457;AF_nfe=0.6902;AF_fin=0.7107;AF_asj=0.6285;AF_oth=0.6820;non_topmed_AF_popmax=0.7028;non_neuro_AF_popmax=0.7101;non_cancer_AF_popmax=.;controls_AF_popmax=0.7105;Kaviar_AF=0.128588;Kaviar_AC=19880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1925937|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228432061 rs147753732 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=12075;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.C3270T:p.A1090A,OBSCN:NM_052843:exon11:c.C3270T:p.A1090A,OBSCN:NM_001271223:exon12:c.C3546T:p.A1182A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147753732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0026;AF_popmax=0.0045;AF_male=0.0021;AF_female=0.0034;AF_raw=0.0026;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0026;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0058;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0096;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1925937|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228432264 rs41305731 A T 100 PASS AC=11;AF=0.0171725;AN=214;NS=2504;DP=17271;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0457;SAS_AF=0.0286;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.A3473T:p.H1158L,OBSCN:NM_052843:exon11:c.A3473T:p.H1158L,OBSCN:NM_001271223:exon12:c.A3749T:p.H1250L;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.217;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.364;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.297;Polyphen2_HVAR_pred=B;LRT_score=0.085;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.825;MutationAssessor_score_rankscore=0.210;MutationAssessor_pred=L;FATHMM_score=3.69;FATHMM_converted_rankscore=0.042;FATHMM_pred=T;PROVEAN_score=-2.14;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.09;VEST3_rankscore=0.269;MetaSVM_score=-0.889;MetaSVM_rankscore=0.491;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.066;CADD_raw_rankscore=0.100;CADD_phred=3.252;DANN_score=0.760;DANN_rankscore=0.109;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_rankscore=0.018;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.787;Eigen-PC-raw=-0.811;GenoCanyon_score=0.039;GenoCanyon_score_rankscore=0.144;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=0.685;phyloP100way_vertebrate_rankscore=0.249;phyloP20way_mammalian=1.059;phyloP20way_mammalian_rankscore=0.766;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=9.904;SiPhy_29way_logOdds_rankscore=0.403;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0321;ExAC_nontcga_AFR=0.0065;ExAC_nontcga_AMR=0.0146;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0422;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0342;ExAC_nontcga_SAS=0.0322;AF=0.0281;AF_popmax=0.0385;AF_male=0.0282;AF_female=0.0279;AF_raw=0.0281;AF_afr=0.0077;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0385;AF_fin=0.0440;AF_asj=0.0517;AF_oth=0.0285;non_topmed_AF_popmax=0.0367;non_neuro_AF_popmax=0.0373;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.031345;Kaviar_AC=4846;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228432323 rs12077365 T C 100 PASS AC=2;AF=0.0832668;AN=214;NS=2504;DP=17481;EAS_AF=0.1964;AMR_AF=0.0101;AFR_AF=0.1165;EUR_AF=0.004;SAS_AF=0.0552;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12077365;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0409;AF_popmax=0.1983;AF_male=0.0431;AF_female=0.0382;AF_raw=0.0409;AF_afr=0.1002;AF_sas=.;AF_amr=0.0106;AF_eas=0.1983;AF_nfe=0.0034;AF_fin=0.0075;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.1980;non_neuro_AF_popmax=0.1983;non_cancer_AF_popmax=.;controls_AF_popmax=0.1958;Kaviar_AF=0.0052845;Kaviar_AC=817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228433171 rs189620214 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18072;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3539T:p.A1180V,OBSCN:NM_052843:exon12:c.C3539T:p.A1180V,OBSCN:NM_001271223:exon13:c.C3815T:p.A1272V;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189620214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.149;SIFT_converted_rankscore=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.836;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.153;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=B;LRT_score=0.060;LRT_converted_rankscore=0.223;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=-0.39;MutationAssessor_score_rankscore=0.030;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.393;PROVEAN_pred=N;VEST3_score=0.113;VEST3_rankscore=0.203;MetaSVM_score=-0.997;MetaSVM_rankscore=0.307;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.306;M-CAP_pred=T;REVEL_score=0.084;REVEL_rankscore=0.250;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.182;CADD_raw_rankscore=0.111;CADD_phred=4.487;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.007;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.151;Eigen-PC-raw=-1.245;GenoCanyon_score=0.073;GenoCanyon_score_rankscore=0.156;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=0.052;GERP++_RS_rankscore=0.136;phyloP100way_vertebrate=-0.298;phyloP100way_vertebrate_rankscore=0.082;phyloP20way_mammalian=-0.644;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=6.447;SiPhy_29way_logOdds_rankscore=0.209;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228433217 rs2487384 A G 100 PASS AC=122;AF=0.616613;AN=214;NS=2504;DP=17687;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7095;EUR_AF=0.6412;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;1000g2015aug_all=0.616613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2487384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6825;ExAC_nontcga_ALL=0.6480;ExAC_nontcga_AFR=0.7069;ExAC_nontcga_AMR=0.6705;ExAC_nontcga_EAS=0.5828;ExAC_nontcga_FIN=0.7014;ExAC_nontcga_NFE=0.6808;ExAC_nontcga_OTH=0.6304;ExAC_nontcga_SAS=0.5036;AF=0.6880;AF_popmax=0.7034;AF_male=0.6859;AF_female=0.6905;AF_raw=0.6877;AF_afr=0.7034;AF_sas=.;AF_amr=0.6915;AF_eas=0.5445;AF_nfe=0.6899;AF_fin=0.7109;AF_asj=0.6241;AF_oth=0.6827;non_topmed_AF_popmax=0.7024;non_neuro_AF_popmax=0.7099;non_cancer_AF_popmax=.;controls_AF_popmax=0.7092;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228433346 rs75801409 C T 100 PASS AC=2;AF=0.0587061;AN=214;NS=2504;DP=19064;EAS_AF=0.1964;AMR_AF=0.0058;AFR_AF=0.028;EUR_AF=0.003;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.C3714T:p.C1238C,OBSCN:NM_052843:exon12:c.C3714T:p.C1238C,OBSCN:NM_001271223:exon13:c.C3990T:p.C1330C;1000g2015aug_all=0.0587061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75801409;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0279;ExAC_nontcga_AMR=0.0048;ExAC_nontcga_EAS=0.2184;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0218;ExAC_nontcga_SAS=0.0363;AF=0.0207;AF_popmax=0.1973;AF_male=0.0223;AF_female=0.0186;AF_raw=0.0207;AF_afr=0.0293;AF_sas=.;AF_amr=0.0071;AF_eas=0.1973;AF_nfe=0.0029;AF_fin=0.0069;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.1970;non_neuro_AF_popmax=0.1973;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0238936;Kaviar_AC=3694;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228434395 rs7517088 T C 100 PASS AC=122;AF=0.617612;AN=214;NS=2504;DP=20385;EAS_AF=0.5992;AMR_AF=0.6542;AFR_AF=0.7133;EUR_AF=0.6412;SAS_AF=0.4571;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;1000g2015aug_all=0.617612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7517088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6833;ExAC_nontcga_ALL=0.6476;ExAC_nontcga_AFR=0.7081;ExAC_nontcga_AMR=0.6705;ExAC_nontcga_EAS=0.5812;ExAC_nontcga_FIN=0.7016;ExAC_nontcga_NFE=0.6809;ExAC_nontcga_OTH=0.6304;ExAC_nontcga_SAS=0.5010;AF=0.6879;AF_popmax=0.7037;AF_male=0.6859;AF_female=0.6904;AF_raw=0.6878;AF_afr=0.7037;AF_sas=.;AF_amr=0.6934;AF_eas=0.5451;AF_nfe=0.6896;AF_fin=0.7104;AF_asj=0.6241;AF_oth=0.6817;non_topmed_AF_popmax=0.7028;non_neuro_AF_popmax=0.7104;non_cancer_AF_popmax=.;controls_AF_popmax=0.7092;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228434467 rs7517108 T C 100 PASS AC=122;AF=0.66254;AN=214;NS=2504;DP=19733;EAS_AF=0.6151;AMR_AF=0.6902;AFR_AF=0.848;EUR_AF=0.6421;SAS_AF=0.4622;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;1000g2015aug_all=0.66254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7517108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6824;ExAC_nontcga_ALL=0.6675;ExAC_nontcga_AFR=0.8251;ExAC_nontcga_AMR=0.7425;ExAC_nontcga_EAS=0.5962;ExAC_nontcga_FIN=0.7009;ExAC_nontcga_NFE=0.6816;ExAC_nontcga_OTH=0.6337;ExAC_nontcga_SAS=0.5099;AF=0.7224;AF_popmax=0.8170;AF_male=0.7226;AF_female=0.7222;AF_raw=0.7222;AF_afr=0.8170;AF_sas=.;AF_amr=0.7388;AF_eas=0.5680;AF_nfe=0.6904;AF_fin=0.7105;AF_asj=0.6345;AF_oth=0.6893;non_topmed_AF_popmax=0.8165;non_neuro_AF_popmax=0.8253;non_cancer_AF_popmax=.;controls_AF_popmax=0.8230;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228437603 rs6426494 T C 100 PASS AC=122;AF=0.663738;AN=214;NS=2504;DP=21993;EAS_AF=0.6151;AMR_AF=0.6873;AFR_AF=0.854;EUR_AF=0.6412;SAS_AF=0.4632;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.663738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6426494;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7236;AF_popmax=0.8229;AF_male=0.7236;AF_female=0.7236;AF_raw=0.7233;AF_afr=0.8229;AF_sas=.;AF_amr=0.7370;AF_eas=0.5677;AF_nfe=0.6898;AF_fin=0.7108;AF_asj=0.6319;AF_oth=0.6860;non_topmed_AF_popmax=0.8225;non_neuro_AF_popmax=0.8332;non_cancer_AF_popmax=.;controls_AF_popmax=0.8294;Kaviar_AF=0.131396;Kaviar_AC=20314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228437772 rs12080655 G A 100 PASS AC=2;AF=0.0611022;AN=214;NS=2504;DP=16429;EAS_AF=0.1746;AMR_AF=0.0072;AFR_AF=0.0537;EUR_AF=0.003;SAS_AF=0.0521;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon14:c.G4140A:p.E1380E,OBSCN:NM_052843:exon14:c.G4140A:p.E1380E,OBSCN:NM_001271223:exon15:c.G4416A:p.E1472E;1000g2015aug_all=0.0611022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12080655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0551;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0.1940;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0355;AF=0.0254;AF_popmax=0.1690;AF_male=0.0268;AF_female=0.0238;AF_raw=0.0255;AF_afr=0.0527;AF_sas=.;AF_amr=0.0035;AF_eas=0.1690;AF_nfe=0.0026;AF_fin=0.0072;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.1686;non_neuro_AF_popmax=0.1690;non_cancer_AF_popmax=.;controls_AF_popmax=0.1696;Kaviar_AF=0.0238613;Kaviar_AC=3689;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.088721;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228444297 rs7532141 T G 100 PASS AC=69;AF=0.159744;AN=214;NS=2504;DP=19474;EAS_AF=0.0575;AMR_AF=0.2651;AFR_AF=0.062;EUR_AF=0.3231;SAS_AF=0.1544;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532141;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2557;AF_popmax=0.3405;AF_male=0.2513;AF_female=0.2612;AF_raw=0.2560;AF_afr=0.1109;AF_sas=.;AF_amr=0.325;AF_eas=0.0610;AF_nfe=0.3405;AF_fin=0.2988;AF_asj=0.3138;AF_oth=0.2869;non_topmed_AF_popmax=0.3360;non_neuro_AF_popmax=0.3379;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0563317;Kaviar_AC=8709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.310662::0.249286;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 +1 228444318 rs7532144 T G 100 PASS AC=122;AF=0.617013;AN=214;NS=2504;DP=18843;EAS_AF=0.5992;AMR_AF=0.6513;AFR_AF=0.7133;EUR_AF=0.6402;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.617013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6821;ExAC_nontcga_ALL=0.6485;ExAC_nontcga_AFR=0.7092;ExAC_nontcga_AMR=0.6724;ExAC_nontcga_EAS=0.5836;ExAC_nontcga_FIN=0.7026;ExAC_nontcga_NFE=0.6815;ExAC_nontcga_OTH=0.6308;ExAC_nontcga_SAS=0.5020;AF=0.6876;AF_popmax=0.7033;AF_male=0.6855;AF_female=0.6902;AF_raw=0.6873;AF_afr=0.7033;AF_sas=.;AF_amr=0.6912;AF_eas=0.5460;AF_nfe=0.6893;AF_fin=0.7103;AF_asj=0.6215;AF_oth=0.6811;non_topmed_AF_popmax=0.7025;non_neuro_AF_popmax=0.7111;non_cancer_AF_popmax=.;controls_AF_popmax=0.7087;Kaviar_AF=0.635128;Kaviar_AC=98192;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228444419 rs576399603 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15193;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.C4377T:p.S1459S,OBSCN:NM_052843:exon15:c.C4377T:p.S1459S,OBSCN:NM_001271223:exon16:c.C4653T:p.S1551S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576399603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507131|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228444565 rs7532342 T A 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=16233;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7532342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.426;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-4.3;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_converted_rankscore=0.000;PROVEAN_pred=N;VEST3_score=0.268;VEST3_rankscore=0.355;MetaSVM_score=-0.939;MetaSVM_rankscore=0.429;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.168;REVEL_rankscore=0.434;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.030;CADD_raw_rankscore=0.096;CADD_phred=2.884;DANN_score=0.239;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.375;Eigen-PC-raw=-1.086;GenoCanyon_score=0.193;GenoCanyon_score_rankscore=0.180;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.6;GERP++_RS_rankscore=0.564;phyloP100way_vertebrate=6.737;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=0.200;phyloP20way_mammalian_rankscore=0.252;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=10.586;SiPhy_29way_logOdds_rankscore=0.443;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 228447463 rs147633098 G A 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=19895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147633098;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.206;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.56;FATHMM_converted_rankscore=0.047;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.106;VEST3_rankscore=0.112;MetaSVM_score=-0.972;MetaSVM_rankscore=0.367;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.043;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.014;REVEL_rankscore=0.021;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.355;CADD_raw_rankscore=0.128;CADD_phred=6.217;DANN_score=0.813;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_rankscore=0.045;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.794;Eigen-PC-raw=-0.939;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.060;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=-2.54;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=-1.658;phyloP100way_vertebrate_rankscore=0.021;phyloP20way_mammalian=-0.473;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.061;phastCons20way_mammalian_rankscore=0.171;SiPhy_29way_logOdds=12.965;SiPhy_29way_logOdds_rankscore=0.577;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0081;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0025;AF=0.0064;AF_popmax=0.0104;AF_male=0.0065;AF_female=0.0063;AF_raw=0.0065;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0049;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0078783;Kaviar_AC=1218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228447513 rs7525075 T G 100 PASS AC=71;AF=0.296925;AN=214;NS=2504;DP=19705;EAS_AF=0.1915;AMR_AF=0.3761;AFR_AF=0.3601;EUR_AF=0.3569;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7525075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3890;ExAC_nontcga_ALL=0.3543;ExAC_nontcga_AFR=0.3877;ExAC_nontcga_AMR=0.4565;ExAC_nontcga_EAS=0.1970;ExAC_nontcga_FIN=0.3414;ExAC_nontcga_NFE=0.3841;ExAC_nontcga_OTH=0.3434;ExAC_nontcga_SAS=0.2468;AF=0.3711;AF_popmax=0.4369;AF_male=0.3707;AF_female=0.3716;AF_raw=0.3733;AF_afr=0.3815;AF_sas=.;AF_amr=0.4369;AF_eas=0.1815;AF_nfe=0.3845;AF_fin=0.3620;AF_asj=0.3542;AF_oth=0.3515;non_topmed_AF_popmax=0.4339;non_neuro_AF_popmax=0.4487;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.346076;Kaviar_AC=53504;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228447519 rs7525078 T A 100 PASS AC=71;AF=0.296925;AN=214;NS=2504;DP=19639;EAS_AF=0.1915;AMR_AF=0.3761;AFR_AF=0.3601;EUR_AF=0.3569;SAS_AF=0.2025;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.296925;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7525078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3890;ExAC_nontcga_ALL=0.3543;ExAC_nontcga_AFR=0.3875;ExAC_nontcga_AMR=0.4570;ExAC_nontcga_EAS=0.1970;ExAC_nontcga_FIN=0.3407;ExAC_nontcga_NFE=0.3838;ExAC_nontcga_OTH=0.3429;ExAC_nontcga_SAS=0.2465;AF=0.3711;AF_popmax=0.4354;AF_male=0.3708;AF_female=0.3715;AF_raw=0.3733;AF_afr=0.3819;AF_sas=.;AF_amr=0.4354;AF_eas=0.1813;AF_nfe=0.3846;AF_fin=0.3620;AF_asj=0.3542;AF_oth=0.3524;non_topmed_AF_popmax=0.4323;non_neuro_AF_popmax=0.4465;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.34519;Kaviar_AC=53367;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228451826 rs453140 C T 100 PASS AC=51;AF=0.30631;AN=214;NS=2504;DP=18890;EAS_AF=0.4226;AMR_AF=0.2983;AFR_AF=0.2761;EUR_AF=0.2823;SAS_AF=0.2577;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;1000g2015aug_all=0.30631;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs453140;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.342;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_converted_rankscore=0.058;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.3;MutationAssessor_score_rankscore=0.036;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=0.78;PROVEAN_converted_rankscore=0.019;PROVEAN_pred=N;VEST3_score=0.006;VEST3_rankscore=0.004;MetaSVM_score=-0.942;MetaSVM_rankscore=0.423;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.006;REVEL_rankscore=0.004;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.352;CADD_raw_rankscore=0.128;CADD_phred=6.186;DANN_score=0.718;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.046;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.496;Eigen-PC-raw=-1.475;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.111;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-1.6;GERP++_RS_rankscore=0.079;phyloP100way_vertebrate=-1.916;phyloP100way_vertebrate_rankscore=0.017;phyloP20way_mammalian=-0.767;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=6.177;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2810;ExAC_nontcga_ALL=0.2954;ExAC_nontcga_AFR=0.2523;ExAC_nontcga_AMR=0.2741;ExAC_nontcga_EAS=0.4032;ExAC_nontcga_FIN=0.3589;ExAC_nontcga_NFE=0.2937;ExAC_nontcga_OTH=0.2928;ExAC_nontcga_SAS=0.2606;AF=0.2973;AF_popmax=0.3825;AF_male=0.2955;AF_female=0.2995;AF_raw=0.2971;AF_afr=0.2573;AF_sas=.;AF_amr=0.2771;AF_eas=0.3825;AF_nfe=0.2998;AF_fin=0.3474;AF_asj=0.2552;AF_oth=0.3247;non_topmed_AF_popmax=0.3809;non_neuro_AF_popmax=0.3825;non_cancer_AF_popmax=.;controls_AF_popmax=0.3723;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +1 228451941 rs142188902 C T 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=19514;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0099;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4710T:p.D1570D,OBSCN:NM_052843:exon16:c.C4710T:p.D1570D,OBSCN:NM_001271223:exon18:c.C5262T:p.D1754D;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142188902;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0098;AF=0.0046;AF_popmax=0.0053;AF_male=0.0045;AF_female=0.0048;AF_raw=0.0046;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0086;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0054527;Kaviar_AC=843;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.455630;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228452016 rs185523702 G C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=18329;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4785C:p.E1595D,OBSCN:NM_052843:exon16:c.G4785C:p.E1595D,OBSCN:NM_001271223:exon18:c.G5337C:p.E1779D;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185523702;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.233;SIFT_converted_rankscore=0.181;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.303;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.029;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_converted_rankscore=0.284;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.41;MutationAssessor_score_rankscore=0.029;MutationAssessor_pred=N;FATHMM_score=3.65;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_converted_rankscore=0.354;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.030;MetaSVM_score=-0.858;MetaSVM_rankscore=0.514;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.015;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.319;CADD_raw_rankscore=0.021;CADD_phred=0.004;DANN_score=0.736;DANN_rankscore=0.101;fathmm-MKL_coding_score=0.390;fathmm-MKL_coding_rankscore=0.259;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.214;Eigen-PC-raw=-1.112;GenoCanyon_score=0.150;GenoCanyon_score_rankscore=0.174;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=-0.246;phyloP100way_vertebrate_rankscore=0.088;phyloP20way_mammalian=0.131;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.630;phastCons20way_mammalian_rankscore=0.294;SiPhy_29way_logOdds=13.174;SiPhy_29way_logOdds_rankscore=0.589;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15;GTEx_V6p_tissue=Esophagus_Mucosa;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0190;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0049;AF=0.0142;AF_popmax=0.0184;AF_male=0.0143;AF_female=0.0140;AF_raw=0.0142;AF_afr=0.0044;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0262;AF_asj=0;AF_oth=0.0193;non_topmed_AF_popmax=0.0191;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0228;Kaviar_AF=0.0134345;Kaviar_AC=2077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228452032 rs55706639 G A 100 PASS AC=2;AF=0.0571086;AN=214;NS=2504;DP=17405;EAS_AF=0.1935;AMR_AF=0.0043;AFR_AF=0.0234;EUR_AF=0.005;SAS_AF=0.0532;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4801A:p.A1601T,OBSCN:NM_052843:exon16:c.G4801A:p.A1601T,OBSCN:NM_001271223:exon18:c.G5353A:p.A1785T;1000g2015aug_all=0.0571086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55706639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.099;SIFT_converted_rankscore=0.410;SIFT_pred=T;Polyphen2_HDIV_score=0.942;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.74;Polyphen2_HVAR_rankscore=0.559;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=0.487;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=2.155;MutationAssessor_score_rankscore=0.604;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_converted_rankscore=0.534;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.256;MetaSVM_score=-0.994;MetaSVM_rankscore=0.317;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.204;REVEL_rankscore=0.496;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.095;CADD_raw_rankscore=0.432;CADD_phred=22.5;DANN_score=0.971;DANN_rankscore=0.319;fathmm-MKL_coding_score=0.063;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.379;Eigen-PC-raw=-0.568;GenoCanyon_score=0.920;GenoCanyon_score_rankscore=0.266;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.75;GERP++_RS_rankscore=0.313;phyloP100way_vertebrate=0.948;phyloP100way_vertebrate_rankscore=0.285;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=8.895;SiPhy_29way_logOdds_rankscore=0.344;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0275;ExAC_nontcga_AFR=0.0250;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.2226;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0368;AF=0.0192;AF_popmax=0.1972;AF_male=0.0206;AF_female=0.0173;AF_raw=0.0193;AF_afr=0.0240;AF_sas=.;AF_amr=0.0024;AF_eas=0.1972;AF_nfe=0.0032;AF_fin=0.0078;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.1955;non_neuro_AF_popmax=0.1972;non_cancer_AF_popmax=.;controls_AF_popmax=0.1963;Kaviar_AF=0.0242106;Kaviar_AC=3743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456294 rs535628776 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13526;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.C4925G:p.A1642G,OBSCN:NM_052843:exon17:c.C4925G:p.A1642G,OBSCN:NM_001271223:exon19:c.C5477G:p.A1826G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535628776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.871;SIFT_converted_rankscore=0.049;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=B;LRT_score=0.827;LRT_converted_rankscore=0.069;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.075;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.049;VEST3_rankscore=0.056;MetaSVM_score=-0.781;MetaSVM_rankscore=0.563;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.057;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.612;M-CAP_pred=D;REVEL_score=0.044;REVEL_rankscore=0.123;MutPred_score=0.426;MutPred_rankscore=0.472;CADD_raw=2.128;CADD_raw_rankscore=0.317;CADD_phred=17.04;DANN_score=0.969;DANN_rankscore=0.309;fathmm-MKL_coding_score=0.398;fathmm-MKL_coding_rankscore=0.261;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.708;Eigen-PC-raw=-0.636;GenoCanyon_score=0.978;GenoCanyon_score_rankscore=0.298;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.483;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=0.006;phyloP100way_vertebrate_rankscore=0.129;phyloP20way_mammalian=-0.001;phyloP20way_mammalian_rankscore=0.135;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.143;phastCons20way_mammalian_rankscore=0.203;SiPhy_29way_logOdds=7.724;SiPhy_29way_logOdds_rankscore=0.277;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=1.918e-05;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456295 rs555320788 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=12762;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.C4926G:p.A1642A,OBSCN:NM_052843:exon17:c.C4926G:p.A1642A,OBSCN:NM_001271223:exon19:c.C5478G:p.A1826A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555320788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.808e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228456296 rs569092903 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=12667;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.A4927G:p.S1643G,OBSCN:NM_052843:exon17:c.A4927G:p.S1643G,OBSCN:NM_001271223:exon19:c.A5479G:p.S1827G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569092903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.102;SIFT_converted_rankscore=0.512;SIFT_pred=T;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_rankscore=0.577;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.897;Polyphen2_HVAR_rankscore=0.650;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.369;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_score_rankscore=0.853;MutationAssessor_pred=M;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.700;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.449;MetaSVM_score=0.013;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.502;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.124;M-CAP_rankscore=0.806;M-CAP_pred=D;REVEL_score=0.385;REVEL_rankscore=0.705;MutPred_score=0.461;MutPred_rankscore=0.530;CADD_raw=3.369;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.992;DANN_rankscore=0.544;fathmm-MKL_coding_score=0.612;fathmm-MKL_coding_rankscore=0.311;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.318;Eigen-PC-raw=0.198;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.483;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=4.953;phyloP100way_vertebrate_rankscore=0.631;phyloP20way_mammalian=1.119;phyloP20way_mammalian_rankscore=0.881;phastCons100way_vertebrate=0.459;phastCons100way_vertebrate_rankscore=0.264;phastCons20way_mammalian=0.222;phastCons20way_mammalian_rankscore=0.222;SiPhy_29way_logOdds=14.797;SiPhy_29way_logOdds_rankscore=0.694;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.729e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=6.407e-05;AF_popmax=0.0001;AF_male=5.756e-05;AF_female=7.223e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.960017;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461097 rs116320185 C G 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=19209;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.C6111G:p.D2037E;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116320185;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=3.3;FATHMM_converted_rankscore=0.064;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.205;VEST3_rankscore=0.570;MetaSVM_score=-0.850;MetaSVM_rankscore=0.520;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.102;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.456;M-CAP_pred=T;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.035;CADD_raw_rankscore=0.193;CADD_phred=10.86;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.082;fathmm-MKL_coding_rankscore=0.140;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.510;Eigen-PC-raw=-1.752;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-9.04;GERP++_RS_rankscore=0.006;phyloP100way_vertebrate=-3.361;phyloP100way_vertebrate_rankscore=0.005;phyloP20way_mammalian=-1.280;phyloP20way_mammalian_rankscore=0.014;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=18.945;SiPhy_29way_logOdds_rankscore=0.926;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0044;ExAC_nontcga_NFE=0.0081;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0055;AF_popmax=0.0097;AF_male=0.0053;AF_female=0.0057;AF_raw=0.0055;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0097;AF_fin=0.0029;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0117;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0049999;Kaviar_AC=773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.432207;ALLELE_END;VINYL_score=8.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461129 rs1188724 A G 100 PASS AC=125;AF=0.69349;AN=214;NS=2504;DP=19047;EAS_AF=0.75;AMR_AF=0.6974;AFR_AF=0.8442;EUR_AF=0.663;SAS_AF=0.4601;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;1000g2015aug_all=0.69349;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188724;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.018;VEST3_rankscore=0.003;MetaSVM_score=-1.004;MetaSVM_rankscore=0.287;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.541;CADD_raw_rankscore=0.053;CADD_phred=0.174;DANN_score=0.112;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.073;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.436;Eigen-PC-raw=-1.570;GenoCanyon_score=0.757;GenoCanyon_score_rankscore=0.234;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-1.1;GERP++_RS_rankscore=0.093;phyloP100way_vertebrate=-1.645;phyloP100way_vertebrate_rankscore=0.021;phyloP20way_mammalian=-1.962;phyloP20way_mammalian_rankscore=0.005;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=11.816;SiPhy_29way_logOdds_rankscore=0.513;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6953;ExAC_nontcga_ALL=0.6896;ExAC_nontcga_AFR=0.8168;ExAC_nontcga_AMR=0.7438;ExAC_nontcga_EAS=0.7261;ExAC_nontcga_FIN=0.7517;ExAC_nontcga_NFE=0.6992;ExAC_nontcga_OTH=0.6464;ExAC_nontcga_SAS=0.5148;AF=0.7419;AF_popmax=0.8086;AF_male=0.7415;AF_female=0.7424;AF_raw=0.7418;AF_afr=0.8086;AF_sas=.;AF_amr=0.7447;AF_eas=0.7005;AF_nfe=0.7084;AF_fin=0.7573;AF_asj=0.6517;AF_oth=0.7155;non_topmed_AF_popmax=0.8081;non_neuro_AF_popmax=0.8203;non_cancer_AF_popmax=.;controls_AF_popmax=0.8148;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228461187 rs185495392 T C 100 PASS AC=4;AF=0.00958466;AN=214;NS=2504;DP=17520;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.T6201C:p.D2067D;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185495392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0250;ExAC_nontcga_ALL=0.0162;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0228;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0135;AF=0.0143;AF_popmax=0.0201;AF_male=0.0138;AF_female=0.0149;AF_raw=0.0143;AF_afr=0.0044;AF_sas=.;AF_amr=0.0106;AF_eas=0.0006;AF_nfe=0.0201;AF_fin=0.0155;AF_asj=0.0621;AF_oth=0.0175;non_topmed_AF_popmax=0.0190;non_neuro_AF_popmax=0.0202;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0164875;Kaviar_AC=2549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461408 rs11398292 A AGGG 100 PASS AC=214;AF=0.999201;AN=214;NS=2504;DP=18069;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.9977;EUR_AF=1;SAS_AF=1;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.999201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.032367;Kaviar_AC=5004;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 228461504 rs200483572 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17321;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon18:c.G5171A:p.R1724H,OBSCN:NM_052843:exon18:c.G5171A:p.R1724H,OBSCN:NM_001271223:exon22:c.G6296A:p.R2099H;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200483572;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.201;SIFT_converted_rankscore=0.203;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.895;Polyphen2_HVAR_rankscore=0.617;Polyphen2_HVAR_pred=P;LRT_score=0.461;LRT_converted_rankscore=0.049;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.223;MutationTaster_pred=N;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=0.4;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.146;MetaSVM_score=-0.832;MetaSVM_rankscore=0.532;MetaSVM_pred=T;MetaLR_score=0.289;MetaLR_rankscore=0.661;MetaLR_pred=T;M-CAP_score=0.094;M-CAP_rankscore=0.763;M-CAP_pred=D;REVEL_score=0.113;REVEL_rankscore=0.323;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.409;CADD_raw_rankscore=0.133;CADD_phred=6.694;DANN_score=0.992;DANN_rankscore=0.562;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.139;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.450;Eigen-PC-raw=-0.621;GenoCanyon_score=0.961;GenoCanyon_score_rankscore=0.285;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.573;integrated_confidence_value=0;GERP++_RS=-0.233;GERP++_RS_rankscore=0.124;phyloP100way_vertebrate=-0.055;phyloP100way_vertebrate_rankscore=0.117;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=0.036;phastCons100way_vertebrate_rankscore=0.206;phastCons20way_mammalian=0.190;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=5.958;SiPhy_29way_logOdds_rankscore=0.184;Interpro_domain=Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0008;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.629023;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228461757 rs474735 G A 100 PASS AC=33;AF=0.206669;AN=214;NS=2504;DP=15985;EAS_AF=0.1538;AMR_AF=0.2536;AFR_AF=0.3207;EUR_AF=0.164;SAS_AF=0.1176;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.206669;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs474735;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.1774;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.3339;ExAC_nontcga_AMR=0.3290;ExAC_nontcga_EAS=0.1543;ExAC_nontcga_FIN=0.1651;ExAC_nontcga_NFE=0.1905;ExAC_nontcga_OTH=0.1910;ExAC_nontcga_SAS=0.1357;AF=0.2156;AF_popmax=0.3144;AF_male=0.2162;AF_female=0.2150;AF_raw=0.2157;AF_afr=0.3144;AF_sas=.;AF_amr=0.3019;AF_eas=0.1354;AF_nfe=0.1770;AF_fin=0.1642;AF_asj=0.2069;AF_oth=0.1873;non_topmed_AF_popmax=0.3137;non_neuro_AF_popmax=0.3213;non_cancer_AF_popmax=.;controls_AF_popmax=0.3215;Kaviar_AF=0.184163;Kaviar_AC=28472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228462520 rs138680175 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18878;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon20:c.C5931T:p.S1977S,OBSCN:NM_052843:exon20:c.C5931T:p.S1977S,OBSCN:NM_001271223:exon24:c.C7056T:p.S2352S;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138680175;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0.0046;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228462570 rs35509584 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18335;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35509584;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0101;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0031;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0028;ExAC_nontcga_SAS=0;AF=0.0049;AF_popmax=0.0077;AF_male=0.0054;AF_female=0.0043;AF_raw=0.0049;AF_afr=0.0030;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0009;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463425 rs576206994 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=10971;EAS_AF=0.004;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.002;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576206994;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463433 rs510931 C T 100 PASS AC=47;AF=0.258786;AN=214;NS=2504;DP=11350;EAS_AF=0.2321;AMR_AF=0.2997;AFR_AF=0.289;EUR_AF=0.2783;SAS_AF=0.1963;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.258786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs510931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2507;ExAC_nontcga_ALL=0.3087;ExAC_nontcga_AFR=0.3514;ExAC_nontcga_AMR=0.3565;ExAC_nontcga_EAS=0.2660;ExAC_nontcga_FIN=0.5;ExAC_nontcga_NFE=0.3481;ExAC_nontcga_OTH=0.2955;ExAC_nontcga_SAS=0.2834;AF=0.2853;AF_popmax=0.2970;AF_male=0.2819;AF_female=0.2895;AF_raw=0.2850;AF_afr=0.2581;AF_sas=.;AF_amr=0.2790;AF_eas=0.1849;AF_nfe=0.2970;AF_fin=0.3403;AF_asj=0.2483;AF_oth=0.3204;non_topmed_AF_popmax=0.3016;non_neuro_AF_popmax=0.2979;non_cancer_AF_popmax=.;controls_AF_popmax=0.3171;Kaviar_AF=0.129487;Kaviar_AC=20019;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +1 228463763 rs556206550 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10114;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556206550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1135426|N/A|ZNF263|JASPAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1840839|N/A|RB1|PAZAR,OREG1850441|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228463774 rs143720914 G T 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=10123;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143720914;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0048;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.01;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0003;AF=0.0048;AF_popmax=0.0067;AF_male=0.0044;AF_female=0.0053;AF_raw=0.0048;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0058;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0021474;Kaviar_AC=332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1840839|N/A|RB1|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1135426|N/A|ZNF263|JASPAR,OREG1850441|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464100 rs936884 G A 100 PASS AC=33;AF=0.207069;AN=214;NS=2504;DP=11254;EAS_AF=0.1548;AMR_AF=0.2536;AFR_AF=0.3222;EUR_AF=0.164;SAS_AF=0.1166;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.207069;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2152;AF_popmax=0.3137;AF_male=0.2158;AF_female=0.2144;AF_raw=0.2156;AF_afr=0.3137;AF_sas=.;AF_amr=0.3031;AF_eas=0.1345;AF_nfe=0.1768;AF_fin=0.1646;AF_asj=0.2014;AF_oth=0.1851;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3205;non_cancer_AF_popmax=.;controls_AF_popmax=0.3212;Kaviar_AF=0.035116;Kaviar_AC=5429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228464141 rs538290410 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12437;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538290410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7406;dbscSNV_RF_SCORE=0.61;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.006e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.936e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464248 rs1188721 T G 100 PASS AC=125;AF=0.695487;AN=214;NS=2504;DP=13144;EAS_AF=0.75;AMR_AF=0.7003;AFR_AF=0.8495;EUR_AF=0.664;SAS_AF=0.4601;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;1000g2015aug_all=0.695487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=1.56;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.005;VEST3_rankscore=0.026;MetaSVM_score=-1.037;MetaSVM_rankscore=0.182;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.246;REVEL_rankscore=0.558;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.460;CADD_raw_rankscore=0.058;CADD_phred=0.276;DANN_score=0.574;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_rankscore=0.124;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.404;Eigen-PC-raw=-1.256;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=-0.623;GERP++_RS_rankscore=0.109;phyloP100way_vertebrate=-0.133;phyloP100way_vertebrate_rankscore=0.103;phyloP20way_mammalian=-0.337;phyloP20way_mammalian_rankscore=0.073;phastCons100way_vertebrate=0.383;phastCons100way_vertebrate_rankscore=0.258;phastCons20way_mammalian=0.548;phastCons20way_mammalian_rankscore=0.279;SiPhy_29way_logOdds=7.276;SiPhy_29way_logOdds_rankscore=0.253;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6965;ExAC_nontcga_ALL=0.6919;ExAC_nontcga_AFR=0.8227;ExAC_nontcga_AMR=0.7467;ExAC_nontcga_EAS=0.7257;ExAC_nontcga_FIN=0.7555;ExAC_nontcga_NFE=0.7018;ExAC_nontcga_OTH=0.6592;ExAC_nontcga_SAS=0.5168;AF=0.7443;AF_popmax=0.8127;AF_male=0.7439;AF_female=0.7449;AF_raw=0.7434;AF_afr=0.8127;AF_sas=.;AF_amr=0.7459;AF_eas=0.7023;AF_nfe=0.7106;AF_fin=0.7576;AF_asj=0.6517;AF_oth=0.7169;non_topmed_AF_popmax=0.8124;non_neuro_AF_popmax=0.8256;non_cancer_AF_popmax=.;controls_AF_popmax=0.8204;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.060850;ALLELE_END;VINYL_score=4.5 GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464255 rs62621832 T C 100 PASS AC=3;AF=0.00259585;AN=214;NS=2504;DP=13543;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.565;MutationAssessor_score_rankscore=0.936;MutationAssessor_pred=H;FATHMM_score=2.1;FATHMM_converted_rankscore=0.200;FATHMM_pred=T;PROVEAN_score=-11.01;PROVEAN_converted_rankscore=0.993;PROVEAN_pred=D;VEST3_score=0.279;VEST3_rankscore=0.675;MetaSVM_score=-0.729;MetaSVM_rankscore=0.591;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.378;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.467;REVEL_rankscore=0.765;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.777;CADD_raw_rankscore=0.641;CADD_phred=24.7;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.743;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.710;Eigen-PC-raw=0.591;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=7.872;phyloP100way_vertebrate_rankscore=0.854;phyloP20way_mammalian=0.950;phyloP20way_mammalian_rankscore=0.538;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.581;phastCons20way_mammalian_rankscore=0.285;SiPhy_29way_logOdds=14.955;SiPhy_29way_logOdds_rankscore=0.706;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0061;ExAC_nontcga_SAS=0.0009;AF=0.0070;AF_popmax=0.0101;AF_male=0.0068;AF_female=0.0072;AF_raw=0.0070;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0069;AF_asj=0.0310;AF_oth=0.0101;non_topmed_AF_popmax=0.0096;non_neuro_AF_popmax=0.01;non_cancer_AF_popmax=.;controls_AF_popmax=0.0089;Kaviar_AF=0.0068498;Kaviar_AC=1059;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464276 rs1188722 T C 100 PASS AC=125;AF=0.663538;AN=214;NS=2504;DP=14563;EAS_AF=0.75;AMR_AF=0.6931;AFR_AF=0.733;EUR_AF=0.663;SAS_AF=0.4601;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;1000g2015aug_all=0.663538;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188722;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.391;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=-3.01;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_converted_rankscore=0.033;FATHMM_pred=T;PROVEAN_score=2.44;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.126;MetaSVM_score=-0.984;MetaSVM_rankscore=0.341;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.742;CADD_raw_rankscore=0.043;CADD_phred=0.058;DANN_score=0.573;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.529;Eigen-PC-raw=-1.269;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=1.606;phyloP100way_vertebrate_rankscore=0.362;phyloP20way_mammalian=-0.454;phyloP20way_mammalian_rankscore=0.056;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=11.771;SiPhy_29way_logOdds_rankscore=0.510;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9;GTEx_V6p_tissue=Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6960;ExAC_nontcga_ALL=0.6830;ExAC_nontcga_AFR=0.7224;ExAC_nontcga_AMR=0.7415;ExAC_nontcga_EAS=0.7269;ExAC_nontcga_FIN=0.7553;ExAC_nontcga_NFE=0.7011;ExAC_nontcga_OTH=0.6575;ExAC_nontcga_SAS=0.5183;AF=0.7163;AF_popmax=0.7364;AF_male=0.7141;AF_female=0.7191;AF_raw=0.7157;AF_afr=0.7141;AF_sas=.;AF_amr=0.7364;AF_eas=0.7016;AF_nfe=0.7101;AF_fin=0.7576;AF_asj=0.6414;AF_oth=0.7151;non_topmed_AF_popmax=0.7376;non_neuro_AF_popmax=0.7221;non_cancer_AF_popmax=.;controls_AF_popmax=0.7352;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464303 rs75280352 G T 100 PASS AC=1;AF=0.00459265;AN=214;NS=2504;DP=15176;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6373T:p.A2125S,OBSCN:NM_052843:exon22:c.G6373T:p.A2125S,OBSCN:NM_001271223:exon26:c.G7498T:p.A2500S;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75280352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.816;SIFT_converted_rankscore=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.844;Polyphen2_HDIV_rankscore=0.447;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.292;Polyphen2_HVAR_rankscore=0.390;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_converted_rankscore=0.260;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.197;MutationTaster_pred=N;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=3.67;FATHMM_converted_rankscore=0.042;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_converted_rankscore=0.429;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.074;MetaSVM_score=-0.959;MetaSVM_rankscore=0.394;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.008;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.771;CADD_raw_rankscore=0.274;CADD_phred=14.82;DANN_score=0.968;DANN_rankscore=0.306;fathmm-MKL_coding_score=0.218;fathmm-MKL_coding_rankscore=0.213;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.730;Eigen-PC-raw=-0.760;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=1.86;GERP++_RS_rankscore=0.244;phyloP100way_vertebrate=0.737;phyloP100way_vertebrate_rankscore=0.256;phyloP20way_mammalian=0.943;phyloP20way_mammalian_rankscore=0.531;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.012;phastCons20way_mammalian_rankscore=0.117;SiPhy_29way_logOdds=4.583;SiPhy_29way_logOdds_rankscore=0.116;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15;GTEx_V6p_tissue=Esophagus_Mucosa;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0278;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0381;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0264;ExAC_nontcga_SAS=0.0072;AF=0.0198;AF_popmax=0.0268;AF_male=0.0196;AF_female=0.0199;AF_raw=0.0199;AF_afr=0.0055;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0268;AF_fin=0.0332;AF_asj=0.0207;AF_oth=0.0239;non_topmed_AF_popmax=0.0278;non_neuro_AF_popmax=0.0270;non_cancer_AF_popmax=.;controls_AF_popmax=0.0336;Kaviar_AF=0.0173413;Kaviar_AC=2681;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464385 rs528584984 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13920;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6455A:p.G2152E,OBSCN:NM_052843:exon22:c.G6455A:p.G2152E,OBSCN:NM_001271223:exon26:c.G7580A:p.G2527E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528584984;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.173;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.895;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.745;MutationAssessor_score_rankscore=0.454;MutationAssessor_pred=L;FATHMM_score=3.65;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-5.56;PROVEAN_converted_rankscore=0.863;PROVEAN_pred=D;VEST3_score=0.545;VEST3_rankscore=0.742;MetaSVM_score=-1.168;MetaSVM_rankscore=0.006;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_rankscore=0.225;MetaLR_pred=T;M-CAP_score=0.258;M-CAP_rankscore=0.894;M-CAP_pred=D;REVEL_score=0.225;REVEL_rankscore=0.528;MutPred_score=0.672;MutPred_rankscore=0.810;CADD_raw=3.941;CADD_raw_rankscore=0.531;CADD_phred=23.5;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.517;Eigen-PC-raw=0.444;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=5.23;GERP++_RS_rankscore=0.725;phyloP100way_vertebrate=6.323;phyloP100way_vertebrate_rankscore=0.727;phyloP20way_mammalian=0.873;phyloP20way_mammalian_rankscore=0.381;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.148;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=18.793;SiPhy_29way_logOdds_rankscore=0.919;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.239e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.08e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.630039;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464440 rs374370725 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10847;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374370725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0012;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0026;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021285|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464759 rs147931446 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147931446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464842 rs936885 C G 100 PASS AC=124;AF=0.69369;AN=214;NS=2504;DP=15999;EAS_AF=0.749;AMR_AF=0.7017;AFR_AF=0.8487;EUR_AF=0.659;SAS_AF=0.4571;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.69369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6953;ExAC_nontcga_ALL=0.6874;ExAC_nontcga_AFR=0.8370;ExAC_nontcga_AMR=0.7572;ExAC_nontcga_EAS=0.7412;ExAC_nontcga_FIN=0.7694;ExAC_nontcga_NFE=0.7177;ExAC_nontcga_OTH=0.6870;ExAC_nontcga_SAS=0.5333;AF=0.7409;AF_popmax=0.8133;AF_male=0.7411;AF_female=0.7405;AF_raw=0.7407;AF_afr=0.8133;AF_sas=.;AF_amr=0.7470;AF_eas=0.7009;AF_nfe=0.7040;AF_fin=0.7552;AF_asj=0.6528;AF_oth=0.7142;non_topmed_AF_popmax=0.8129;non_neuro_AF_popmax=0.8262;non_cancer_AF_popmax=.;controls_AF_popmax=0.8213;Kaviar_AF=0.594837;Kaviar_AC=91963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 +1 228464899 rs185428240 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16834;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon24:c.C6639T:p.I2213I,OBSCN:NM_052843:exon24:c.C6639T:p.I2213I,OBSCN:NM_001271223:exon28:c.C7764T:p.I2588I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185428240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.964e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228464937 rs370102778 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18475;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon24:c.G6677A:p.R2226Q,OBSCN:NM_052843:exon24:c.G6677A:p.R2226Q,OBSCN:NM_001271223:exon28:c.G7802A:p.R2601Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370102778;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.574;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.852;Polyphen2_HDIV_rankscore=0.592;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.208;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.183;LRT_converted_rankscore=0.170;LRT_pred=N;MutationTaster_score=0.935;MutationTaster_converted_rankscore=0.371;MutationTaster_pred=D;MutationAssessor_score=0.74;MutationAssessor_score_rankscore=0.190;MutationAssessor_pred=N;FATHMM_score=3.55;FATHMM_converted_rankscore=0.048;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.474;MetaSVM_score=-0.753;MetaSVM_rankscore=0.578;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.030;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.499;M-CAP_pred=D;REVEL_score=0.170;REVEL_rankscore=0.438;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.694;CADD_raw_rankscore=0.160;CADD_phred=8.790;DANN_score=0.984;DANN_rankscore=0.410;fathmm-MKL_coding_score=0.292;fathmm-MKL_coding_rankscore=0.235;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.427;Eigen-PC-raw=-0.484;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=0.455;GERP++_RS_rankscore=0.158;phyloP100way_vertebrate=3.416;phyloP100way_vertebrate_rankscore=0.522;phyloP20way_mammalian=0.883;phyloP20way_mammalian_rankscore=0.387;phastCons100way_vertebrate=0.648;phastCons100way_vertebrate_rankscore=0.279;phastCons20way_mammalian=0.279;phastCons20way_mammalian_rankscore=0.233;SiPhy_29way_logOdds=3.546;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.621e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.789e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228465346 rs493945 A G 100 PASS AC=74;AF=0.330072;AN=214;NS=2504;DP=15447;EAS_AF=0.378;AMR_AF=0.3617;AFR_AF=0.3585;EUR_AF=0.3638;SAS_AF=0.1851;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon29:c.A8020G:p.N2674D;1000g2015aug_all=0.330072;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs493945;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1e-37;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.071;VEST3_rankscore=0.117;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.591;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.990;DANN_rankscore=0.498;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.930;Eigen-PC-raw=2.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=5.732;phyloP100way_vertebrate_rankscore=0.680;phyloP20way_mammalian=1.007;phyloP20way_mammalian_rankscore=0.626;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.958;phastCons20way_mammalian_rankscore=0.437;SiPhy_29way_logOdds=13.940;SiPhy_29way_logOdds_rankscore=0.634;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162910.14|ENSG00000269890.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000270110.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000269890.1|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181218.4|ENSG00000162913.9|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4617;ExAC_nontcga_AFR=0.4949;ExAC_nontcga_AMR=0.5593;ExAC_nontcga_EAS=0.5432;ExAC_nontcga_FIN=0.5455;ExAC_nontcga_NFE=0.5264;ExAC_nontcga_OTH=0.4764;ExAC_nontcga_SAS=0.2763;AF=0.3812;AF_popmax=0.4163;AF_male=0.3823;AF_female=0.3798;AF_raw=0.3811;AF_afr=0.3749;AF_sas=.;AF_amr=0.4163;AF_eas=0.3964;AF_nfe=0.3808;AF_fin=0.3916;AF_asj=0.3690;AF_oth=0.3582;non_topmed_AF_popmax=0.4123;non_neuro_AF_popmax=0.4278;non_cancer_AF_popmax=.;controls_AF_popmax=0.4092;Kaviar_AF=0.303961;Kaviar_AC=46993;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.173877;ALLELE_END;VINYL_score=3.5 GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 +1 228465370 rs867599 T G 100 PASS AC=128;AF=0.669529;AN=214;NS=2504;DP=14665;EAS_AF=0.744;AMR_AF=0.6988;AFR_AF=0.7542;EUR_AF=0.67;SAS_AF=0.4571;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.669529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs867599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7207;ExAC_nontcga_AFR=0.7671;ExAC_nontcga_AMR=0.7802;ExAC_nontcga_EAS=0.7869;ExAC_nontcga_FIN=0.8019;ExAC_nontcga_NFE=0.7387;ExAC_nontcga_OTH=0.7082;ExAC_nontcga_SAS=0.5537;AF=0.7292;AF_popmax=0.7378;AF_male=0.7261;AF_female=0.7332;AF_raw=0.7289;AF_afr=0.7373;AF_sas=.;AF_amr=0.7370;AF_eas=0.7378;AF_nfe=0.7128;AF_fin=0.7880;AF_asj=0.6345;AF_oth=0.7169;non_topmed_AF_popmax=0.7395;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7377;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.973539;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.669529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs867599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.7207;ExAC_nontcga_AFR=0.7671;ExAC_nontcga_AMR=0.7802;ExAC_nontcga_EAS=0.7869;ExAC_nontcga_FIN=0.8019;ExAC_nontcga_NFE=0.7387;ExAC_nontcga_OTH=0.7082;ExAC_nontcga_SAS=0.5537;AF=0.7292;AF_popmax=0.7378;AF_male=0.7261;AF_female=0.7332;AF_raw=0.7289;AF_afr=0.7373;AF_sas=.;AF_amr=0.7370;AF_eas=0.7378;AF_nfe=0.7128;AF_fin=0.7880;AF_asj=0.6345;AF_oth=0.7169;non_topmed_AF_popmax=0.7395;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7377;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.973539;ALLELE_END;VINYL_score=2 GT 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|0 1|1 1|1 1|1 0|0 1|1 0|0 0|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 +1 228465403 rs13376694 G T 100 PASS AC=11;AF=0.102835;AN=214;NS=2504;DP=12724;EAS_AF=0.3413;AMR_AF=0.0231;AFR_AF=0.0257;EUR_AF=0.0507;SAS_AF=0.0716;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13376694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.0410;ExAC_nontcga_AMR=0.0213;ExAC_nontcga_EAS=0.4090;ExAC_nontcga_FIN=0.1118;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0758;ExAC_nontcga_SAS=0.0719;AF=0.0723;AF_popmax=0.3772;AF_male=0.0737;AF_female=0.0706;AF_raw=0.0725;AF_afr=0.0342;AF_sas=.;AF_amr=0.0354;AF_eas=0.3772;AF_nfe=0.0606;AF_fin=0.0959;AF_asj=0.0517;AF_oth=0.0663;non_topmed_AF_popmax=0.3735;non_neuro_AF_popmax=0.3772;non_cancer_AF_popmax=.;controls_AF_popmax=0.3818;Kaviar_AF=0.0737959;Kaviar_AC=11409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13376694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.0410;ExAC_nontcga_AMR=0.0213;ExAC_nontcga_EAS=0.4090;ExAC_nontcga_FIN=0.1118;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0758;ExAC_nontcga_SAS=0.0719;AF=0.0723;AF_popmax=0.3772;AF_male=0.0737;AF_female=0.0706;AF_raw=0.0725;AF_afr=0.0342;AF_sas=.;AF_amr=0.0354;AF_eas=0.3772;AF_nfe=0.0606;AF_fin=0.0959;AF_asj=0.0517;AF_oth=0.0663;non_topmed_AF_popmax=0.3735;non_neuro_AF_popmax=0.3772;non_cancer_AF_popmax=.;controls_AF_popmax=0.3818;Kaviar_AF=0.0737959;Kaviar_AC=11409;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228465426 rs181566858 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13394;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181566858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181566858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466819 rs115119380 C T 100 PASS AC=11;AF=0.0167732;AN=214;NS=2504;DP=17582;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0437;SAS_AF=0.0286;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0167732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115119380;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0276;AF_popmax=0.0378;AF_male=0.0277;AF_female=0.0275;AF_raw=0.0276;AF_afr=0.0074;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0378;AF_fin=0.0440;AF_asj=0.0517;AF_oth=0.0276;non_topmed_AF_popmax=0.0362;non_neuro_AF_popmax=0.0369;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0058149;Kaviar_AC=899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466843 rs142671595 C T 100 PASS AC=3;AF=0.00499201;AN=214;NS=2504;DP=18131;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142671595;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0111;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0129;ExAC_nontcga_SAS=0.0056;AF=0.0085;AF_popmax=0.0108;AF_male=0.0086;AF_female=0.0084;AF_raw=0.0085;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0204;AF_asj=0.0172;AF_oth=0.0119;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0115;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0077942;Kaviar_AC=1205;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228466862 rs3820627 C T 100 PASS AC=4;AF=0.0421326;AN=214;NS=2504;DP=18459;EAS_AF=0.0962;AMR_AF=0.0504;AFR_AF=0.0106;EUR_AF=0.0298;SAS_AF=0.0358;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0421326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3820627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0331;ExAC_nontcga_ALL=0.0414;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.0565;ExAC_nontcga_EAS=0.0831;ExAC_nontcga_FIN=0.0514;ExAC_nontcga_NFE=0.0369;ExAC_nontcga_OTH=0.0393;ExAC_nontcga_SAS=0.0323;AF=0.0359;AF_popmax=0.0763;AF_male=0.0360;AF_female=0.0358;AF_raw=0.0359;AF_afr=0.0165;AF_sas=.;AF_amr=0.0590;AF_eas=0.0763;AF_nfe=0.0365;AF_fin=0.0593;AF_asj=0.0172;AF_oth=0.0377;non_topmed_AF_popmax=0.0775;non_neuro_AF_popmax=0.0763;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.038156;Kaviar_AC=5899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228467072 rs185248802 C G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=15002;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.C7323G:p.T2441T,OBSCN:NM_052843:exon27:c.C7323G:p.T2441T,OBSCN:NM_001271223:exon32:c.C8610G:p.T2870T;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185248802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0101;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0302;ExAC_nontcga_NFE=0.0128;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0019;AF=0.0140;AF_popmax=0.0199;AF_male=0.0127;AF_female=0.0156;AF_raw=0.0141;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0199;AF_fin=0.0302;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0236;non_neuro_AF_popmax=0.0203;non_cancer_AF_popmax=.;controls_AF_popmax=0.0340;Kaviar_AF=0.0089197;Kaviar_AC=1379;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467095 rs200720682 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15413;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A,OBSCN:NM_052843:exon27:c.T7346C:p.V2449A,OBSCN:NM_001271223:exon32:c.T8633C:p.V2878A;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200720682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.036;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.972;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.428;LRT_pred=D;MutationTaster_score=0.761;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.685;MutationAssessor_score_rankscore=0.788;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-2.89;PROVEAN_converted_rankscore=0.606;PROVEAN_pred=D;VEST3_score=0.254;VEST3_rankscore=0.438;MetaSVM_score=-0.578;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.200;MetaLR_rankscore=0.557;MetaLR_pred=T;M-CAP_score=0.238;M-CAP_rankscore=0.886;M-CAP_pred=D;REVEL_score=0.223;REVEL_rankscore=0.525;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.990;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.910;DANN_rankscore=0.196;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.856;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.431;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.47;GERP++_RS_rankscore=0.536;phyloP100way_vertebrate=7.412;phyloP100way_vertebrate_rankscore=0.791;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.827;phastCons20way_mammalian_rankscore=0.345;SiPhy_29way_logOdds=14.048;SiPhy_29way_logOdds_rankscore=0.641;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0093;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0045;ExAC_nontcga_SAS=0.0038;AF=0.0055;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0062;AF_raw=0.0054;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0052328;Kaviar_AC=809;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467158 rs146022568 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16747;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146022568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0018;AF_popmax=0.0032;AF_male=0.0019;AF_female=0.0016;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507130|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467642 rs139306713 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19048;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.C7517T:p.T2506M,OBSCN:NM_052843:exon28:c.C7517T:p.T2506M,OBSCN:NM_001271223:exon33:c.C8804T:p.T2935M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139306713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.398;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=0.068;LRT_converted_rankscore=0.217;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.645;MutationAssessor_score_rankscore=0.421;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-3.17;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.116;VEST3_rankscore=0.144;MetaSVM_score=-0.775;MetaSVM_rankscore=0.566;MetaSVM_pred=T;MetaLR_score=0.314;MetaLR_rankscore=0.684;MetaLR_pred=T;M-CAP_score=0.164;M-CAP_rankscore=0.844;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.815;CADD_raw_rankscore=0.515;CADD_phred=23.4;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.084;fathmm-MKL_coding_rankscore=0.142;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.310;Eigen-PC-raw=-0.454;GenoCanyon_score=0.546;GenoCanyon_score_rankscore=0.213;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.05;GERP++_RS_rankscore=0.257;phyloP100way_vertebrate=-0.637;phyloP100way_vertebrate_rankscore=0.055;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=2.487;SiPhy_29way_logOdds_rankscore=0.043;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0039;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0005;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0001;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +1 228467711 rs3795783 G A 100 PASS AC=6;AF=0.0836661;AN=214;NS=2504;DP=19444;EAS_AF=0.3056;AMR_AF=0.0115;AFR_AF=0.0166;EUR_AF=0.0258;SAS_AF=0.0562;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.G7586A:p.R2529Q,OBSCN:NM_052843:exon28:c.G7586A:p.R2529Q,OBSCN:NM_001271223:exon33:c.G8873A:p.R2958Q;1000g2015aug_all=0.0836661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795783;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.589;SIFT_converted_rankscore=0.058;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.96;Polyphen2_HVAR_rankscore=0.686;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=P;MutationAssessor_score=1.28;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_converted_rankscore=0.443;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.457;MetaSVM_score=-1.001;MetaSVM_rankscore=0.296;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.250;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.997;DANN_rankscore=0.784;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_rankscore=0.182;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.137;Eigen-PC-raw=-0.218;GenoCanyon_score=0.897;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=3.54;GERP++_RS_rankscore=0.395;phyloP100way_vertebrate=1.813;phyloP100way_vertebrate_rankscore=0.384;phyloP20way_mammalian=1.043;phyloP20way_mammalian_rankscore=0.663;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.638;phastCons20way_mammalian_rankscore=0.296;SiPhy_29way_logOdds=5.643;SiPhy_29way_logOdds_rankscore=0.167;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0184;ExAC_nontcga_ALL=0.0789;ExAC_nontcga_AFR=0.0307;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.4189;ExAC_nontcga_FIN=0.0967;ExAC_nontcga_NFE=0.0395;ExAC_nontcga_OTH=0.0587;ExAC_nontcga_SAS=0.0609;AF=0.0391;AF_popmax=0.3080;AF_male=0.0399;AF_female=0.0382;AF_raw=0.0393;AF_afr=0.0190;AF_sas=.;AF_amr=0.0130;AF_eas=0.3080;AF_nfe=0.0222;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0313;non_topmed_AF_popmax=0.3038;non_neuro_AF_popmax=0.3080;non_cancer_AF_popmax=.;controls_AF_popmax=0.3096;Kaviar_AF=0.0425803;Kaviar_AC=6583;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228467969 rs202052558 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17993;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon29:c.G7753C:p.D2585H,OBSCN:NM_052843:exon29:c.G7753C:p.D2585H,OBSCN:NM_001271223:exon34:c.G9040C:p.D3014H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202052558;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.23;MutationAssessor_score_rankscore=0.897;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-3.86;PROVEAN_converted_rankscore=0.751;PROVEAN_pred=D;VEST3_score=0.245;VEST3_rankscore=0.422;MetaSVM_score=-0.092;MetaSVM_rankscore=0.803;MetaSVM_pred=T;MetaLR_score=0.462;MetaLR_rankscore=0.792;MetaLR_pred=T;M-CAP_score=0.128;M-CAP_rankscore=0.811;M-CAP_pred=D;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.087;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.974;DANN_rankscore=0.333;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.519;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.418;Eigen-PC-raw=0.401;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.414;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=2.374;phyloP100way_vertebrate_rankscore=0.437;phyloP20way_mammalian=1.043;phyloP20way_mammalian_rankscore=0.663;phastCons100way_vertebrate=0.913;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.577;phastCons20way_mammalian_rankscore=0.284;SiPhy_29way_logOdds=10.470;SiPhy_29way_logOdds_rankscore=0.436;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0031;AF=0.0006;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0007503;Kaviar_AC=116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.194632;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468179 rs201001779 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16516;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201001779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201001779;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0047;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468244 rs12061320 G A 100 PASS AC=6;AF=0.113618;AN=214;NS=2504;DP=16189;EAS_AF=0.3185;AMR_AF=0.0173;AFR_AF=0.115;EUR_AF=0.0268;SAS_AF=0.0583;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G7944A:p.V2648V,OBSCN:NM_052843:exon30:c.G7944A:p.V2648V,OBSCN:NM_001271223:exon35:c.G9231A:p.V3077V;1000g2015aug_all=0.113618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12061320;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0183;ExAC_nontcga_ALL=0.0588;ExAC_nontcga_AFR=0.1128;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0.3425;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0235;ExAC_nontcga_OTH=0.0373;ExAC_nontcga_SAS=0.0472;AF=0.0622;AF_popmax=0.3235;AF_male=0.0632;AF_female=0.0610;AF_raw=0.0624;AF_afr=0.0972;AF_sas=.;AF_amr=0.0177;AF_eas=0.3235;AF_nfe=0.0227;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0369;non_topmed_AF_popmax=0.3190;non_neuro_AF_popmax=0.3235;non_cancer_AF_popmax=.;controls_AF_popmax=0.3249;Kaviar_AF=0.0530976;Kaviar_AC=8209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945742|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228468458 rs1188697 G A 100 PASS AC=54;AF=0.31889;AN=214;NS=2504;DP=14985;EAS_AF=0.247;AMR_AF=0.3343;AFR_AF=0.469;EUR_AF=0.2962;SAS_AF=0.2025;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;1000g2015aug_all=0.31889;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188697;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.14;SIFT_converted_rankscore=0.256;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_rankscore=0.595;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_converted_rankscore=0.130;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.41;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.139;VEST3_rankscore=0.498;MetaSVM_score=-0.998;MetaSVM_rankscore=0.304;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.353;REVEL_rankscore=0.678;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.572;CADD_raw_rankscore=0.251;CADD_phred=13.70;DANN_score=0.989;DANN_rankscore=0.471;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_rankscore=0.114;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.235;Eigen-PC-raw=-0.383;GenoCanyon_score=0.435;GenoCanyon_score_rankscore=0.204;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=0.451;GERP++_RS_rankscore=0.158;phyloP100way_vertebrate=0.482;phyloP100way_vertebrate_rankscore=0.218;phyloP20way_mammalian=0.134;phyloP20way_mammalian_rankscore=0.217;phastCons100way_vertebrate=0.021;phastCons100way_vertebrate_rankscore=0.196;phastCons20way_mammalian=0.474;phastCons20way_mammalian_rankscore=0.266;SiPhy_29way_logOdds=8.559;SiPhy_29way_logOdds_rankscore=0.325;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2785;ExAC_nontcga_ALL=0.2984;ExAC_nontcga_AFR=0.4034;ExAC_nontcga_AMR=0.2861;ExAC_nontcga_EAS=0.2016;ExAC_nontcga_FIN=0.3870;ExAC_nontcga_NFE=0.3113;ExAC_nontcga_OTH=0.2892;ExAC_nontcga_SAS=0.2281;AF=0.3381;AF_popmax=0.3926;AF_male=0.3355;AF_female=0.3413;AF_raw=0.3388;AF_afr=0.3926;AF_sas=.;AF_amr=0.2861;AF_eas=0.1965;AF_nfe=0.3185;AF_fin=0.3693;AF_asj=0.2587;AF_oth=0.3441;non_topmed_AF_popmax=0.3930;non_neuro_AF_popmax=0.3960;non_cancer_AF_popmax=.;controls_AF_popmax=0.4039;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228468566 rs4653934 A G 100 PASS AC=74;AF=0.239816;AN=214;NS=2504;DP=15993;EAS_AF=0.1845;AMR_AF=0.3545;AFR_AF=0.1876;EUR_AF=0.3489;SAS_AF=0.1738;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653934;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3249;AF_popmax=0.4372;AF_male=0.3238;AF_female=0.3263;AF_raw=0.3251;AF_afr=0.2461;AF_sas=.;AF_amr=0.4372;AF_eas=0.1794;AF_nfe=0.3703;AF_fin=0.3535;AF_asj=0.3611;AF_oth=0.3312;non_topmed_AF_popmax=0.4367;non_neuro_AF_popmax=0.4436;non_cancer_AF_popmax=.;controls_AF_popmax=0.4065;Kaviar_AF=0.326802;Kaviar_AC=8506;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 +1 228469720 rs140186693 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8284A:p.E2762K,OBSCN:NM_052843:exon31:c.G8284A:p.E2762K,OBSCN:NM_001271223:exon36:c.G9571A:p.E3191K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140186693;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.64;Polyphen2_HVAR_rankscore=0.607;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.87;MutationAssessor_score_rankscore=0.836;MutationAssessor_pred=M;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_converted_rankscore=0.547;PROVEAN_pred=D;VEST3_score=0.262;VEST3_rankscore=0.427;MetaSVM_score=-0.488;MetaSVM_rankscore=0.691;MetaSVM_pred=T;MetaLR_score=0.341;MetaLR_rankscore=0.707;MetaLR_pred=T;M-CAP_score=0.080;M-CAP_rankscore=0.735;M-CAP_pred=D;REVEL_score=0.333;REVEL_rankscore=0.659;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.733;CADD_raw_rankscore=0.389;CADD_phred=21.0;DANN_score=0.998;DANN_rankscore=0.928;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.645;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.022;Eigen-PC-raw=-0.145;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.303;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.38;GERP++_RS_rankscore=0.283;phyloP100way_vertebrate=6.263;phyloP100way_vertebrate_rankscore=0.723;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.262;phastCons20way_mammalian_rankscore=0.230;SiPhy_29way_logOdds=14.692;SiPhy_29way_logOdds_rankscore=0.686;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.903e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469801 rs150312546 G C 100 PASS AC=8;AF=0.0111821;AN=214;NS=2504;DP=17074;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.003;EUR_AF=0.0258;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8365C:p.G2789R,OBSCN:NM_052843:exon31:c.G8365C:p.G2789R,OBSCN:NM_001271223:exon36:c.G9652C:p.G3218R;1000g2015aug_all=0.0111821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150312546;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.880;PROVEAN_pred=D;VEST3_score=0.256;VEST3_rankscore=0.697;MetaSVM_score=-0.453;MetaSVM_rankscore=0.703;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_rankscore=0.426;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.043;CADD_raw_rankscore=0.679;CADD_phred=25.2;DANN_score=0.999;DANN_rankscore=0.984;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.928;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.659;Eigen-PC-raw=0.532;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.45;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=7.618;phyloP100way_vertebrate_rankscore=0.821;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.320;phastCons20way_mammalian_rankscore=0.241;SiPhy_29way_logOdds=17.475;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0146;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0075;ExAC_nontcga_NFE=0.0217;ExAC_nontcga_OTH=0.0198;ExAC_nontcga_SAS=0.0074;AF=0.0135;AF_popmax=0.0217;AF_male=0.0127;AF_female=0.0145;AF_raw=0.0135;AF_afr=0.0033;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0063;AF_asj=0.0138;AF_oth=0.0193;non_topmed_AF_popmax=0.0218;non_neuro_AF_popmax=0.0215;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0150516;Kaviar_AC=2327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469870 rs3795785 C T 100 PASS AC=6;AF=0.0872604;AN=214;NS=2504;DP=16137;EAS_AF=0.2808;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0249;SAS_AF=0.0634;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.C8434T:p.R2812W,OBSCN:NM_052843:exon31:c.C8434T:p.R2812W,OBSCN:NM_001271223:exon36:c.C9721T:p.R3241W;1000g2015aug_all=0.0872604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795785;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.309;SIFT_pred=T;Polyphen2_HDIV_score=0.058;Polyphen2_HDIV_rankscore=0.215;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=0.991;LRT_converted_rankscore=0.079;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.369;MutationTaster_pred=P;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_converted_rankscore=0.758;PROVEAN_pred=D;VEST3_score=0.033;VEST3_rankscore=0.387;MetaSVM_score=-1.013;MetaSVM_rankscore=0.259;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.132;REVEL_rankscore=0.365;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.777;CADD_raw_rankscore=0.395;CADD_phred=21.2;DANN_score=0.926;DANN_rankscore=0.215;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_rankscore=0.237;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.189;Eigen-PC-raw=-1.268;GenoCanyon_score=0.960;GenoCanyon_score_rankscore=0.284;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-0.154;GERP++_RS_rankscore=0.127;phyloP100way_vertebrate=1.003;phyloP100way_vertebrate_rankscore=0.292;phyloP20way_mammalian=-0.471;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.640;phastCons20way_mammalian_rankscore=0.296;SiPhy_29way_logOdds=10.162;SiPhy_29way_logOdds_rankscore=0.418;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0178;ExAC_nontcga_ALL=0.0498;ExAC_nontcga_AFR=0.0462;ExAC_nontcga_AMR=0.0084;ExAC_nontcga_EAS=0.2895;ExAC_nontcga_FIN=0.0593;ExAC_nontcga_NFE=0.0225;ExAC_nontcga_OTH=0.0389;ExAC_nontcga_SAS=0.0521;AF=0.0446;AF_popmax=0.2884;AF_male=0.0454;AF_female=0.0435;AF_raw=0.0448;AF_afr=0.0424;AF_sas=.;AF_amr=0.0130;AF_eas=0.2884;AF_nfe=0.0218;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.2844;non_neuro_AF_popmax=0.2884;non_cancer_AF_popmax=.;controls_AF_popmax=0.2903;Kaviar_AF=0.0446501;Kaviar_AC=6903;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469903 rs3795786 A T 100 PASS AC=3;AF=0.0766773;AN=214;NS=2504;DP=15849;EAS_AF=0.2927;AMR_AF=0.0058;AFR_AF=0.0166;EUR_AF=0.007;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=OBSCN:NM_001098623:exon31:c.A8467T:p.R2823X,OBSCN:NM_052843:exon31:c.A8467T:p.R2823X,OBSCN:NM_001271223:exon36:c.A9754T:p.R3252X;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.228;LRT_converted_rankscore=0.160;LRT_pred=N;MutationTaster_score=1e-37;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.513;CADD_raw_rankscore=0.975;CADD_phred=37;DANN_score=0.998;DANN_rankscore=0.856;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.515;Eigen-PC-raw=0.250;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.387;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.21;GERP++_RS_rankscore=0.488;phyloP100way_vertebrate=3.900;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.083;phyloP20way_mammalian_rankscore=0.853;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.058;phastCons20way_mammalian_rankscore=0.169;SiPhy_29way_logOdds=13.608;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0373;ExAC_nontcga_AFR=0.0161;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.2992;ExAC_nontcga_FIN=0.0359;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0285;ExAC_nontcga_SAS=0.0466;AF=0.0264;AF_popmax=0.2911;AF_male=0.0275;AF_female=0.0251;AF_raw=0.0267;AF_afr=0.0165;AF_sas=.;AF_amr=0.0047;AF_eas=0.2911;AF_nfe=0.0050;AF_fin=0.0369;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.2871;non_neuro_AF_popmax=0.2911;non_cancer_AF_popmax=.;controls_AF_popmax=0.2963;Kaviar_AF=0.0310604;Kaviar_AC=4802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228469904 rs3795787 G T 100 PASS AC=3;AF=0.0766773;AN=214;NS=2504;DP=15826;EAS_AF=0.2927;AMR_AF=0.0058;AFR_AF=0.0166;EUR_AF=0.007;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8468T:p.R2823I,OBSCN:NM_052843:exon31:c.G8468T:p.R2823I,OBSCN:NM_001271223:exon36:c.G9755T:p.R3252I;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795787;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.59;Polyphen2_HDIV_rankscore=0.372;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.327;Polyphen2_HVAR_rankscore=0.402;Polyphen2_HVAR_pred=B;LRT_score=0.228;LRT_converted_rankscore=0.160;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.83;MutationAssessor_score_rankscore=0.482;MutationAssessor_pred=L;FATHMM_score=-0.96;FATHMM_converted_rankscore=0.756;FATHMM_pred=T;PROVEAN_score=-4.44;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.239;VEST3_rankscore=0.403;MetaSVM_score=-1.081;MetaSVM_rankscore=0.072;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.302;REVEL_rankscore=0.627;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.320;CADD_raw_rankscore=0.458;CADD_phred=22.9;DANN_score=0.930;DANN_rankscore=0.219;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_rankscore=0.419;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.941;Eigen-PC-raw=-1.092;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=-7.84;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=0.995;phyloP100way_vertebrate_rankscore=0.291;phyloP20way_mammalian=-1.097;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.050;phastCons20way_mammalian_rankscore=0.164;SiPhy_29way_logOdds=7.739;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.052;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0372;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.2986;ExAC_nontcga_FIN=0.0358;ExAC_nontcga_NFE=0.0062;ExAC_nontcga_OTH=0.0285;ExAC_nontcga_SAS=0.0466;AF=0.0264;AF_popmax=0.2907;AF_male=0.0275;AF_female=0.0251;AF_raw=0.0267;AF_afr=0.0165;AF_sas=.;AF_amr=0.0047;AF_eas=0.2907;AF_nfe=0.0050;AF_fin=0.0369;AF_asj=0.0103;AF_oth=0.0211;non_topmed_AF_popmax=0.2868;non_neuro_AF_popmax=0.2907;non_cancer_AF_popmax=.;controls_AF_popmax=0.2956;Kaviar_AF=0.0310798;Kaviar_AC=4805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228470995 rs1150906 G T 100 PASS AC=53;AF=0.318091;AN=214;NS=2504;DP=16667;EAS_AF=0.249;AMR_AF=0.3329;AFR_AF=0.4675;EUR_AF=0.2932;SAS_AF=0.2025;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.318091;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2859;ExAC_nontcga_ALL=0.3432;ExAC_nontcga_AFR=0.4550;ExAC_nontcga_AMR=0.3755;ExAC_nontcga_EAS=0.2933;ExAC_nontcga_FIN=0.4841;ExAC_nontcga_NFE=0.3786;ExAC_nontcga_OTH=0.3512;ExAC_nontcga_SAS=0.2533;AF=0.3382;AF_popmax=0.3945;AF_male=0.3354;AF_female=0.3417;AF_raw=0.3383;AF_afr=0.3945;AF_sas=.;AF_amr=0.2877;AF_eas=0.1961;AF_nfe=0.3179;AF_fin=0.3694;AF_asj=0.2552;AF_oth=0.3416;non_topmed_AF_popmax=0.3948;non_neuro_AF_popmax=0.3969;non_cancer_AF_popmax=.;controls_AF_popmax=0.4036;Kaviar_AF=0.217817;Kaviar_AC=33675;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389191|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228471028 rs551369052 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15906;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551369052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.357e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228471046 rs41303079 C T 100 PASS AC=70;AF=0.147364;AN=214;NS=2504;DP=15700;EAS_AF=0.0565;AMR_AF=0.2594;AFR_AF=0.0446;EUR_AF=0.3171;SAS_AF=0.1258;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41303079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2451;AF_popmax=0.3324;AF_male=0.2415;AF_female=0.2496;AF_raw=0.2450;AF_afr=0.0905;AF_sas=.;AF_amr=0.3267;AF_eas=0.0604;AF_nfe=0.3324;AF_fin=0.2920;AF_asj=0.3138;AF_oth=0.2795;non_topmed_AF_popmax=0.3280;non_neuro_AF_popmax=0.3310;non_cancer_AF_popmax=.;controls_AF_popmax=0.3261;Kaviar_AF=0.268288;Kaviar_AC=6983;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.297794::0.265045;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 +1 228471379 rs56168609 G C 100 PASS AC=75;AF=0.230232;AN=214;NS=2504;DP=17988;EAS_AF=0.1528;AMR_AF=0.3242;AFR_AF=0.1989;EUR_AF=0.3499;SAS_AF=0.1626;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.G8913C:p.R2971R,OBSCN:NM_052843:exon33:c.G8913C:p.R2971R,OBSCN:NM_001271223:exon38:c.G10200C:p.R3400R;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56168609;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3681;ExAC_nontcga_ALL=0.3175;ExAC_nontcga_AFR=0.2414;ExAC_nontcga_AMR=0.3832;ExAC_nontcga_EAS=0.1542;ExAC_nontcga_FIN=0.3253;ExAC_nontcga_NFE=0.3724;ExAC_nontcga_OTH=0.3280;ExAC_nontcga_SAS=0.2053;AF=0.3227;AF_popmax=0.3972;AF_male=0.3209;AF_female=0.3248;AF_raw=0.3228;AF_afr=0.2514;AF_sas=.;AF_amr=0.3972;AF_eas=0.1378;AF_nfe=0.3703;AF_fin=0.3512;AF_asj=0.3576;AF_oth=0.3256;non_topmed_AF_popmax=0.3948;non_neuro_AF_popmax=0.4058;non_cancer_AF_popmax=.;controls_AF_popmax=0.3740;Kaviar_AF=0.318256;Kaviar_AC=49203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.334559::0.223564;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 +1 228473733 rs573418208 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19159;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573418208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228474422 rs185979863 G C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=17479;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185979863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0081;AF_male=0.0048;AF_female=0.0062;AF_raw=0.0054;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0081;AF_fin=0.0063;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.001313;Kaviar_AC=203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228475715 rs138782220 A G 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=21137;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.0031;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138782220;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0157;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0057;AF=0.0120;AF_popmax=0.0175;AF_male=0.0117;AF_female=0.0124;AF_raw=0.0120;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0120374;Kaviar_AC=1861;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138782220;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0157;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0057;AF=0.0120;AF_popmax=0.0175;AF_male=0.0117;AF_female=0.0124;AF_raw=0.0120;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0175;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0120374;Kaviar_AC=1861;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228475848 rs437129 G A 100 PASS AC=53;AF=0.302716;AN=214;NS=2504;DP=20091;EAS_AF=0.247;AMR_AF=0.3242;AFR_AF=0.4153;EUR_AF=0.2932;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;1000g2015aug_all=0.302716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs437129;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.4;SIFT_converted_rankscore=0.105;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.546;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_rankscore=0.591;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_converted_rankscore=0.120;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.231;MutationTaster_pred=P;MutationAssessor_score=2.895;MutationAssessor_score_rankscore=0.841;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-1.28;PROVEAN_converted_rankscore=0.322;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.270;MetaSVM_score=-0.972;MetaSVM_rankscore=0.368;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.107;CADD_raw_rankscore=0.551;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_rankscore=0.253;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.195;Eigen-PC-raw=0.132;GenoCanyon_score=0.055;GenoCanyon_score_rankscore=0.150;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=2.760;phyloP100way_vertebrate_rankscore=0.470;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.943;phastCons100way_vertebrate_rankscore=0.325;phastCons20way_mammalian=0.515;phastCons20way_mammalian_rankscore=0.273;SiPhy_29way_logOdds=10.701;SiPhy_29way_logOdds_rankscore=0.449;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2973;ExAC_nontcga_ALL=0.2917;ExAC_nontcga_AFR=0.3519;ExAC_nontcga_AMR=0.2816;ExAC_nontcga_EAS=0.2005;ExAC_nontcga_FIN=0.3863;ExAC_nontcga_NFE=0.3057;ExAC_nontcga_OTH=0.2884;ExAC_nontcga_SAS=0.2264;AF=0.3242;AF_popmax=0.3476;AF_male=0.3211;AF_female=0.3280;AF_raw=0.3247;AF_afr=0.3476;AF_sas=.;AF_amr=0.2849;AF_eas=0.1973;AF_nfe=0.3160;AF_fin=0.3690;AF_asj=0.2552;AF_oth=0.3404;non_topmed_AF_popmax=0.3476;non_neuro_AF_popmax=0.3551;non_cancer_AF_popmax=.;controls_AF_popmax=0.3610;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 0|0 0|1 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 +1 228476366 rs3795789 G T 100 PASS AC=6;AF=0.0958466;AN=214;NS=2504;DP=21025;EAS_AF=0.3165;AMR_AF=0.0144;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10116T:p.E3372D,OBSCN:NM_052843:exon38:c.G10116T:p.E3372D,OBSCN:NM_001271223:exon43:c.G11403T:p.E3801D;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795789;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_rankscore=0.387;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.472;Polyphen2_HVAR_rankscore=0.515;Polyphen2_HVAR_pred=P;LRT_score=0.066;LRT_converted_rankscore=0.218;LRT_pred=N;MutationTaster_score=0.794;MutationTaster_converted_rankscore=0.331;MutationTaster_pred=P;MutationAssessor_score=3.11;MutationAssessor_score_rankscore=0.880;MutationAssessor_pred=M;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_converted_rankscore=0.468;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.104;MetaSVM_score=-1.071;MetaSVM_rankscore=0.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.212;REVEL_rankscore=0.508;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.734;CADD_raw_rankscore=0.390;CADD_phred=21.0;DANN_score=0.979;DANN_rankscore=0.364;fathmm-MKL_coding_score=0.662;fathmm-MKL_coding_rankscore=0.327;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.207;Eigen-PC-raw=-0.325;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.133;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.15;GERP++_RS_rankscore=0.351;phyloP100way_vertebrate=0.375;phyloP100way_vertebrate_rankscore=0.201;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.064;phastCons100way_vertebrate_rankscore=0.217;phastCons20way_mammalian=0.026;phastCons20way_mammalian_rankscore=0.142;SiPhy_29way_logOdds=6.425;SiPhy_29way_logOdds_rankscore=0.208;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0541;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.3372;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0484;AF_popmax=0.3210;AF_male=0.0492;AF_female=0.0475;AF_raw=0.0487;AF_afr=0.0498;AF_sas=.;AF_amr=0.0142;AF_eas=0.3210;AF_nfe=0.0223;AF_fin=0.0549;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.3165;non_neuro_AF_popmax=0.3210;non_cancer_AF_popmax=.;controls_AF_popmax=0.3205;Kaviar_AF=0.04661;Kaviar_AC=7206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476367 rs3795790 A T 100 PASS AC=6;AF=0.0958466;AN=214;NS=2504;DP=20986;EAS_AF=0.3165;AMR_AF=0.0144;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.0583;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.A10117T:p.S3373C,OBSCN:NM_052843:exon38:c.A10117T:p.S3373C,OBSCN:NM_001271223:exon43:c.A11404T:p.S3802C;1000g2015aug_all=0.0958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795790;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.082;SIFT_converted_rankscore=0.332;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.520;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.590;Polyphen2_HVAR_pred=P;LRT_score=0.319;LRT_converted_rankscore=0.143;LRT_pred=U;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.248;MutationTaster_pred=P;MutationAssessor_score=0.32;MutationAssessor_score_rankscore=0.103;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.072;VEST3_rankscore=0.410;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.116;CADD_raw_rankscore=0.315;CADD_phred=16.96;DANN_score=0.719;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.246;fathmm-MKL_coding_rankscore=0.222;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.156;Eigen-PC-raw=-1.333;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=-1.33;GERP++_RS_rankscore=0.086;phyloP100way_vertebrate=0.295;phyloP100way_vertebrate_rankscore=0.187;phyloP20way_mammalian=-1.072;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=0.005;phastCons100way_vertebrate_rankscore=0.169;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0142;ExAC_nontcga_ALL=0.0530;ExAC_nontcga_AFR=0.0541;ExAC_nontcga_AMR=0.0085;ExAC_nontcga_EAS=0.3379;ExAC_nontcga_FIN=0.0558;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0488;AF_popmax=0.3235;AF_male=0.0495;AF_female=0.0480;AF_raw=0.0487;AF_afr=0.0503;AF_sas=.;AF_amr=0.0142;AF_eas=0.3235;AF_nfe=0.0225;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0334;non_topmed_AF_popmax=0.3186;non_neuro_AF_popmax=0.3235;non_cancer_AF_popmax=.;controls_AF_popmax=0.3241;Kaviar_AF=0.0466229;Kaviar_AC=7208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476390 rs568828036 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21132;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10140A:p.T3380T,OBSCN:NM_052843:exon38:c.G10140A:p.T3380T,OBSCN:NM_001271223:exon43:c.G11427A:p.T3809T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568828036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.187e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476414 rs3795791 G A 100 PASS AC=6;AF=0.0938498;AN=214;NS=2504;DP=20753;EAS_AF=0.3175;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0258;SAS_AF=0.0583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10164A:p.A3388A,OBSCN:NM_052843:exon38:c.G10164A:p.A3388A,OBSCN:NM_001271223:exon43:c.G11451A:p.A3817A;1000g2015aug_all=0.0938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0451;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.3415;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0469;AF=0.0470;AF_popmax=0.3279;AF_male=0.0479;AF_female=0.0458;AF_raw=0.0469;AF_afr=0.0428;AF_sas=.;AF_amr=0.0130;AF_eas=0.3279;AF_nfe=0.0225;AF_fin=0.0550;AF_asj=0.0241;AF_oth=0.0332;non_topmed_AF_popmax=0.3236;non_neuro_AF_popmax=0.3279;non_cancer_AF_popmax=.;controls_AF_popmax=0.3293;Kaviar_AF=0.0477355;Kaviar_AC=7380;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228476526 rs545042549 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18997;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.G10276A:p.D3426N,OBSCN:NM_052843:exon38:c.G10276A:p.D3426N,OBSCN:NM_001271223:exon43:c.G11563A:p.D3855N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545042549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.028;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.008;LRT_converted_rankscore=0.311;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.28;MutationAssessor_score_rankscore=0.982;MutationAssessor_pred=H;FATHMM_score=-1.44;FATHMM_converted_rankscore=0.808;FATHMM_pred=T;PROVEAN_score=-3.48;PROVEAN_converted_rankscore=0.679;PROVEAN_pred=D;VEST3_score=0.161;VEST3_rankscore=0.347;MetaSVM_score=0.881;MetaSVM_rankscore=0.954;MetaSVM_pred=D;MetaLR_score=0.799;MetaLR_rankscore=0.932;MetaLR_pred=D;M-CAP_score=0.110;M-CAP_rankscore=0.789;M-CAP_pred=D;REVEL_score=0.613;REVEL_rankscore=0.851;MutPred_score=0.882;MutPred_rankscore=0.969;CADD_raw=5.578;CADD_raw_rankscore=0.759;CADD_phred=26.5;DANN_score=0.993;DANN_rankscore=0.575;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.572;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.689;Eigen-PC-raw=0.498;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.913;phyloP100way_vertebrate_rankscore=0.868;phyloP20way_mammalian=0.994;phyloP20way_mammalian_rankscore=0.605;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.131;phastCons20way_mammalian_rankscore=0.199;SiPhy_29way_logOdds=18.553;SiPhy_29way_logOdds_rankscore=0.910;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228480282 rs1150908 A G 100 PASS AC=134;AF=0.698882;AN=214;NS=2504;DP=19841;EAS_AF=0.749;AMR_AF=0.7147;AFR_AF=0.8669;EUR_AF=0.672;SAS_AF=0.4366;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;1000g2015aug_all=0.698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7022;ExAC_nontcga_ALL=0.6932;ExAC_nontcga_AFR=0.8302;ExAC_nontcga_AMR=0.7505;ExAC_nontcga_EAS=0.7288;ExAC_nontcga_FIN=0.7722;ExAC_nontcga_NFE=0.7050;ExAC_nontcga_OTH=0.6580;ExAC_nontcga_SAS=0.4966;AF=0.7513;AF_popmax=0.8239;AF_male=0.7500;AF_female=0.7530;AF_raw=0.7511;AF_afr=0.8239;AF_sas=.;AF_amr=0.7524;AF_eas=0.7001;AF_nfe=0.7136;AF_fin=0.7779;AF_asj=0.6586;AF_oth=0.7164;non_topmed_AF_popmax=0.8237;non_neuro_AF_popmax=0.8369;non_cancer_AF_popmax=.;controls_AF_popmax=0.8355;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228481116 rs369094782 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22393;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon41:c.G10930A:p.V3644M,OBSCN:NM_052843:exon41:c.G10930A:p.V3644M,OBSCN:NM_001271223:exon46:c.G12217A:p.V4073M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369094782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.133;Polyphen2_HDIV_rankscore=0.256;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.080;LRT_converted_rankscore=0.210;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_converted_rankscore=0.055;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.285;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.059;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.067;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.286;DANN_score=0.313;DANN_rankscore=0.018;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.043;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.207;Eigen-PC-raw=-1.222;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=3.26;GERP++_RS_rankscore=0.363;phyloP100way_vertebrate=-0.530;phyloP100way_vertebrate_rankscore=0.062;phyloP20way_mammalian=-0.353;phyloP20way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=9.530;SiPhy_29way_logOdds_rankscore=0.382;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.637e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.932e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.372e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228481382 rs148055866 C T 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=21984;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0041;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148055866;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0108;AF_popmax=0.0184;AF_male=0.0099;AF_female=0.0120;AF_raw=0.0108;AF_afr=0.0014;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0066;AF_asj=0.0207;AF_oth=0.0110;non_topmed_AF_popmax=0.0199;non_neuro_AF_popmax=0.0188;non_cancer_AF_popmax=.;controls_AF_popmax=0.0254;Kaviar_AF=0.0018046;Kaviar_AC=279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228481917 rs55702382 G A 100 PASS AC=4;AF=0.00878594;AN=214;NS=2504;DP=22342;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0184;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11196A:p.T3732T,OBSCN:NM_052843:exon42:c.G11196A:p.T3732T,OBSCN:NM_001271223:exon47:c.G12483A:p.T4161T;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55702382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0229;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0135;AF=0.0104;AF_popmax=0.0160;AF_male=0.0105;AF_female=0.0103;AF_raw=0.0104;AF_afr=0.0037;AF_sas=.;AF_amr=0.0106;AF_eas=0.0006;AF_nfe=0.0160;AF_fin=0.0023;AF_asj=0.0621;AF_oth=0.0119;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0141589;Kaviar_AC=2189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482010 rs449133 C T 100 PASS AC=94;AF=0.381989;AN=214;NS=2504;DP=20851;EAS_AF=0.247;AMR_AF=0.4179;AFR_AF=0.472;EUR_AF=0.4821;SAS_AF=0.271;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;1000g2015aug_all=0.381989;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs449133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4953;ExAC_nontcga_ALL=0.4309;ExAC_nontcga_AFR=0.4261;ExAC_nontcga_AMR=0.3482;ExAC_nontcga_EAS=0.2011;ExAC_nontcga_FIN=0.5641;ExAC_nontcga_NFE=0.4965;ExAC_nontcga_OTH=0.4391;ExAC_nontcga_SAS=0.3276;AF=0.4777;AF_popmax=0.5198;AF_male=0.4750;AF_female=0.4812;AF_raw=0.4768;AF_afr=0.4289;AF_sas=.;AF_amr=0.3895;AF_eas=0.2013;AF_nfe=0.5198;AF_fin=0.5581;AF_asj=0.4103;AF_oth=0.4954;non_topmed_AF_popmax=0.5223;non_neuro_AF_popmax=0.5200;non_cancer_AF_popmax=.;controls_AF_popmax=0.5405;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228482028 rs4653547 G C 100 PASS AC=34;AF=0.21246;AN=214;NS=2504;DP=20554;EAS_AF=0.1835;AMR_AF=0.2795;AFR_AF=0.3139;EUR_AF=0.164;SAS_AF=0.1074;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11307C:p.L3769L,OBSCN:NM_052843:exon42:c.G11307C:p.L3769L,OBSCN:NM_001271223:exon47:c.G12594C:p.L4198L;1000g2015aug_all=0.21246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653547;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1766;ExAC_nontcga_ALL=0.2054;ExAC_nontcga_AFR=0.3160;ExAC_nontcga_AMR=0.3921;ExAC_nontcga_EAS=0.1838;ExAC_nontcga_FIN=0.1521;ExAC_nontcga_NFE=0.1850;ExAC_nontcga_OTH=0.1826;ExAC_nontcga_SAS=0.1209;AF=0.2154;AF_popmax=0.3452;AF_male=0.2161;AF_female=0.2144;AF_raw=0.2157;AF_afr=0.3143;AF_sas=.;AF_amr=0.3452;AF_eas=0.1763;AF_nfe=0.1699;AF_fin=0.1644;AF_asj=0.2241;AF_oth=0.1851;non_topmed_AF_popmax=0.3441;non_neuro_AF_popmax=0.3333;non_cancer_AF_popmax=.;controls_AF_popmax=0.3203;Kaviar_AF=0.196634;Kaviar_AC=30400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.602941;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228482059 rs56218706 G A 100 PASS AC=5;AF=0.00798722;AN=214;NS=2504;DP=20209;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11338A:p.G3780R,OBSCN:NM_052843:exon42:c.G11338A:p.G3780R,OBSCN:NM_001271223:exon47:c.G12625A:p.G4209R;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56218706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.011;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.354;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=4.69;MutationAssessor_score_rankscore=0.995;MutationAssessor_pred=H;FATHMM_score=2.3;FATHMM_converted_rankscore=0.170;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_converted_rankscore=0.927;PROVEAN_pred=D;VEST3_score=0.386;VEST3_rankscore=0.888;MetaSVM_score=-0.384;MetaSVM_rankscore=0.725;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.294;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.472;REVEL_rankscore=0.768;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.747;CADD_raw_rankscore=0.785;CADD_phred=26.9;DANN_score=0.998;DANN_rankscore=0.897;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.724;Eigen-PC-raw=0.533;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.05;GERP++_RS_rankscore=0.462;phyloP100way_vertebrate=5.696;phyloP100way_vertebrate_rankscore=0.677;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=15.666;SiPhy_29way_logOdds_rankscore=0.769;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0421;ExAC_nontcga_ALL=0.0200;ExAC_nontcga_AFR=0.0051;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0321;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0048;AF=0.0243;AF_popmax=0.0358;AF_male=0.0242;AF_female=0.0244;AF_raw=0.0242;AF_afr=0.0076;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0358;AF_fin=0.0253;AF_asj=0.0310;AF_oth=0.0285;non_topmed_AF_popmax=0.0332;non_neuro_AF_popmax=0.0356;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0225612;Kaviar_AC=3488;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000510|hsa-miR-320a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482125 rs550508890 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550508890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.201e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0024;AF_male=0;AF_female=0.0003;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228482160 rs149553275 C T 100 PASS AC=1;AF=0.0225639;AN=214;NS=2504;DP=22254;EAS_AF=0.0139;AMR_AF=0.1383;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149553275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0188;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.1448;ExAC_nontcga_EAS=0.0173;ExAC_nontcga_FIN=0.0085;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0015;AF=0.0069;AF_popmax=0.1297;AF_male=0.0079;AF_female=0.0056;AF_raw=0.0069;AF_afr=0.0017;AF_sas=.;AF_amr=0.1297;AF_eas=0.0077;AF_nfe=0.0031;AF_fin=0.0043;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.1358;non_neuro_AF_popmax=0.1029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0976;Kaviar_AF=0.0170761;Kaviar_AC=2640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 228482569 rs56122236 G A 100 PASS AC=9;AF=0.0127796;AN=214;NS=2504;DP=19513;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0;EUR_AF=0.0447;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56122236;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0198;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0019;AF=0.0212;AF_popmax=0.0343;AF_male=0.0202;AF_female=0.0225;AF_raw=0.0213;AF_afr=0.0068;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0343;AF_fin=0.0106;AF_asj=0.0069;AF_oth=0.0165;non_topmed_AF_popmax=0.0366;non_neuro_AF_popmax=0.0344;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0214874;Kaviar_AC=3322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 228482663 rs139654872 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19718;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.C11578A:p.H3860N,OBSCN:NM_052843:exon43:c.C11578A:p.H3860N,OBSCN:NM_001271223:exon48:c.C12865A:p.H4289N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139654872;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.359;SIFT_converted_rankscore=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.772;Polyphen2_HDIV_rankscore=0.420;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.329;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_converted_rankscore=0.269;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.85;MutationAssessor_score_rankscore=0.213;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-1.48;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.181;MetaSVM_score=-0.980;MetaSVM_rankscore=0.350;MetaSVM_pred=T;MetaLR_score=0.146;MetaLR_rankscore=0.471;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.321;M-CAP_pred=T;REVEL_score=0.125;REVEL_rankscore=0.350;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.373;CADD_raw_rankscore=0.063;CADD_phred=0.450;DANN_score=0.427;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.175;fathmm-MKL_coding_rankscore=0.197;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.814;Eigen-PC-raw=-0.885;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.076;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.09;GERP++_RS_rankscore=0.260;phyloP100way_vertebrate=-0.597;phyloP100way_vertebrate_rankscore=0.058;phyloP20way_mammalian=-0.372;phyloP20way_mammalian_rankscore=0.066;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=9.869;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.47e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228486404 rs56021350 C T 100 PASS AC=31;AF=0.165935;AN=214;NS=2504;DP=21966;EAS_AF=0.1518;AMR_AF=0.2378;AFR_AF=0.1982;EUR_AF=0.1581;SAS_AF=0.0941;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon49:c.C13196T:p.T4399M;1000g2015aug_all=0.165935;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56021350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.688;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.084;VEST3_rankscore=0.329;MetaSVM_score=-1.017;MetaSVM_rankscore=0.247;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.548;CADD_raw_rankscore=0.146;CADD_phred=7.790;DANN_score=0.303;DANN_rankscore=0.016;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.080;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.053;Eigen-PC-raw=-1.266;GenoCanyon_score=0.037;GenoCanyon_score_rankscore=0.143;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-4.67;GERP++_RS_rankscore=0.031;phyloP100way_vertebrate=-2.306;phyloP100way_vertebrate_rankscore=0.012;phyloP20way_mammalian=-2.709;phyloP20way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=12.656;SiPhy_29way_logOdds_rankscore=0.560;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1788;ExAC_nontcga_ALL=0.1836;ExAC_nontcga_AFR=0.2243;ExAC_nontcga_AMR=0.3191;ExAC_nontcga_EAS=0.1544;ExAC_nontcga_FIN=0.1495;ExAC_nontcga_NFE=0.1822;ExAC_nontcga_OTH=0.1813;ExAC_nontcga_SAS=0.1044;AF=0.1863;AF_popmax=0.2886;AF_male=0.1841;AF_female=0.1891;AF_raw=0.1865;AF_afr=0.2304;AF_sas=.;AF_amr=0.2886;AF_eas=0.1364;AF_nfe=0.1674;AF_fin=0.1612;AF_asj=0.1966;AF_oth=0.1728;non_topmed_AF_popmax=0.2866;non_neuro_AF_popmax=0.2810;non_cancer_AF_popmax=.;controls_AF_popmax=0.2317;Kaviar_AF=0.17633;Kaviar_AC=27261;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228487165 rs191804425 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=22331;EAS_AF=0.002;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon50:c.C13416T:p.N4472N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191804425;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.794e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.528e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.487e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228491633 rs11584418 G A 100 PASS AC=5;AF=0.052516;AN=214;NS=2504;DP=22118;EAS_AF=0.0962;AMR_AF=0.0605;AFR_AF=0.0416;EUR_AF=0.0328;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon52:c.G13996A:p.V4666I;1000g2015aug_all=0.052516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11584418;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.59;FATHMM_converted_rankscore=0.133;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.037;VEST3_rankscore=0.075;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.427;CADD_raw_rankscore=0.135;CADD_phred=6.844;DANN_score=0.548;DANN_rankscore=0.051;fathmm-MKL_coding_score=0.350;fathmm-MKL_coding_rankscore=0.250;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.272;Eigen-PC-raw=-0.362;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.075;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=2.99;GERP++_RS_rankscore=0.335;phyloP100way_vertebrate=1.344;phyloP100way_vertebrate_rankscore=0.333;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.928;phastCons100way_vertebrate_rankscore=0.320;phastCons20way_mammalian=0.303;phastCons20way_mammalian_rankscore=0.238;SiPhy_29way_logOdds=6.702;SiPhy_29way_logOdds_rankscore=0.223;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0397;ExAC_nontcga_ALL=0.0456;ExAC_nontcga_AFR=0.0543;ExAC_nontcga_AMR=0.0575;ExAC_nontcga_EAS=0.0822;ExAC_nontcga_FIN=0.0500;ExAC_nontcga_NFE=0.0392;ExAC_nontcga_OTH=0.0445;ExAC_nontcga_SAS=0.0340;AF=0.0484;AF_popmax=0.0766;AF_male=0.0494;AF_female=0.0472;AF_raw=0.0484;AF_afr=0.0578;AF_sas=.;AF_amr=0.0650;AF_eas=0.0766;AF_nfe=0.0373;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0432;non_topmed_AF_popmax=0.0778;non_neuro_AF_popmax=0.0766;non_cancer_AF_popmax=.;controls_AF_popmax=0.0842;Kaviar_AF=0.0433759;Kaviar_AC=6706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228492044 rs1150910 G A 100 PASS AC=97;AF=0.369209;AN=214;NS=2504;DP=20930;EAS_AF=0.249;AMR_AF=0.4121;AFR_AF=0.4221;EUR_AF=0.4861;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;1000g2015aug_all=0.369209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4905;ExAC_nontcga_ALL=0.4287;ExAC_nontcga_AFR=0.3886;ExAC_nontcga_AMR=0.3464;ExAC_nontcga_EAS=0.2000;ExAC_nontcga_FIN=0.5646;ExAC_nontcga_NFE=0.4992;ExAC_nontcga_OTH=0.4333;ExAC_nontcga_SAS=0.3276;AF=0.4655;AF_popmax=0.5205;AF_male=0.4623;AF_female=0.4696;AF_raw=0.4654;AF_afr=0.3845;AF_sas=.;AF_amr=0.3880;AF_eas=0.1997;AF_nfe=0.5205;AF_fin=0.5587;AF_asj=0.4207;AF_oth=0.4917;non_topmed_AF_popmax=0.5232;non_neuro_AF_popmax=0.5202;non_cancer_AF_popmax=.;controls_AF_popmax=0.5405;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228492061 rs560328132 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21212;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14060T:p.T4687M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560328132;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.045;SIFT_converted_rankscore=0.408;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_converted_rankscore=0.540;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.259;MetaSVM_score=-0.830;MetaSVM_rankscore=0.533;MetaSVM_pred=T;MetaLR_score=0.195;MetaLR_rankscore=0.549;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.507;M-CAP_pred=D;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.464;CADD_raw_rankscore=0.139;CADD_phred=7.153;DANN_score=0.853;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.953;Eigen-PC-raw=-1.148;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.109;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-3.96;GERP++_RS_rankscore=0.038;phyloP100way_vertebrate=-3.887;phyloP100way_vertebrate_rankscore=0.004;phyloP20way_mammalian=-0.318;phyloP20way_mammalian_rankscore=0.077;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.134;SiPhy_29way_logOdds_rankscore=0.245;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.767e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.421e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.488e-05;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228492125 rs56335580 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14124T:p.T4708T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56335580;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0058;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0009;AF=0.0033;AF_popmax=0.0059;AF_male=0.0030;AF_female=0.0037;AF_raw=0.0033;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0014;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0025226;Kaviar_AC=390;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228492220 rs41270183 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494070 rs528938803 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13635;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528938803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9998;dbscSNV_RF_SCORE=0.9;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494209 rs201397658 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16241;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.T11796C:p.N3932N,OBSCN:NM_052843:exon44:c.T11796C:p.N3932N,OBSCN:NM_001271223:exon55:c.T14667C:p.N4889N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201397658;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0010;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494346 rs560045774 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19493;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560045774;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0005905|hsa-miR-1254|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494357 rs3795795 C T 100 PASS AC=31;AF=0.166733;AN=214;NS=2504;DP=19356;EAS_AF=0.1518;AMR_AF=0.2406;AFR_AF=0.1974;EUR_AF=0.159;SAS_AF=0.0961;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.166733;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1716;ExAC_nontcga_ALL=0.1919;ExAC_nontcga_AFR=0.2300;ExAC_nontcga_AMR=0.3352;ExAC_nontcga_EAS=0.1636;ExAC_nontcga_FIN=0.1609;ExAC_nontcga_NFE=0.1903;ExAC_nontcga_OTH=0.1918;ExAC_nontcga_SAS=0.1111;AF=0.1863;AF_popmax=0.2920;AF_male=0.1839;AF_female=0.1892;AF_raw=0.1864;AF_afr=0.2275;AF_sas=.;AF_amr=0.2920;AF_eas=0.1358;AF_nfe=0.1684;AF_fin=0.1618;AF_asj=0.1979;AF_oth=0.1737;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2358;Kaviar_AF=0.172216;Kaviar_AC=26625;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228494382 rs1150911 T C,G 100 PASS AC=37,97;AF=0.321486,0.383387;AN=214;NS=2504;DP=19048;EAS_AF=0.497,0.249;AMR_AF=0.2983,0.4207;AFR_AF=0.4175,0.4713;EUR_AF=0.1869,0.4861;SAS_AF=0.1656,0.271;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.321486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2516;ExAC_nontcga_AFR=0.4168;ExAC_nontcga_AMR=0.3970;ExAC_nontcga_EAS=0.5153;ExAC_nontcga_FIN=0.2021;ExAC_nontcga_NFE=0.1989;ExAC_nontcga_OTH=0.2239;ExAC_nontcga_SAS=0.1689;AF=0.281;AF_popmax=0.5026;AF_male=0.2830;AF_female=0.2785;AF_raw=0.2809;AF_afr=0.4223;AF_sas=.;AF_amr=0.3587;AF_eas=0.5026;AF_nfe=0.1932;AF_fin=0.2196;AF_asj=0.2379;AF_oth=0.2223;non_topmed_AF_popmax=0.5007;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.5109;Kaviar_AF=0.0030077;Kaviar_AC=465;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.383387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6220;ExAC_nontcga_ALL=0.4414;ExAC_nontcga_AFR=0.4309;ExAC_nontcga_AMR=0.3542;ExAC_nontcga_EAS=0.2109;ExAC_nontcga_FIN=0.5718;ExAC_nontcga_NFE=0.5092;ExAC_nontcga_OTH=0.4459;ExAC_nontcga_SAS=0.3330;AF=0.4778;AF_popmax=0.5210;AF_male=0.4754;AF_female=0.4809;AF_raw=0.4776;AF_afr=0.4269;AF_sas=.;AF_amr=0.3931;AF_eas=0.1996;AF_nfe=0.5210;AF_fin=0.5586;AF_asj=0.4207;AF_oth=0.4963;non_topmed_AF_popmax=0.5233;non_neuro_AF_popmax=0.5213;non_cancer_AF_popmax=.;controls_AF_popmax=0.5401;Kaviar_AF=0.401159;Kaviar_AC=62020;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 2|2 1|1 0|2 2|2 2|0 0|1 2|2 1|0 1|2 2|0 1|2 2|1 2|2 2|0 1|0 0|2 2|2 2|1 0|2 2|2 0|2 2|2 0|0 2|2 0|0 0|1 0|2 2|1 2|2 0|2 2|2 0|2 2|0 1|0 2|0 0|2 0|2 1|0 0|0 2|2 1|0 0|0 0|0 2|1 2|2 1|0 1|0 2|2 0|0 2|2 1|1 2|2 2|1 0|2 2|2 2|0 1|2 0|2 0|2 2|2 0|0 2|0 2|2 1|0 0|0 0|0 0|1 1|2 0|2 0|2 0|0 1|2 1|1 0|0 2|0 2|0 0|1 0|2 2|0 0|2 0|2 2|0 1|2 2|0 1|2 0|2 2|0 2|0 1|0 1|0 2|0 2|0 1|2 2|2 2|2 0|0 1|2 0|1 1|2 2|0 0|2 0|0 2|0 2|0 2|2 2|2 0|1 +1 228494394 rs115773822 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18559;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115773822;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0036;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0038;AF_raw=0.0036;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0037268;Kaviar_AC=97;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494552 rs536286227 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20873;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536286227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228494696 rs4653939 G A 100 PASS AC=37;AF=0.308506;AN=214;NS=2504;DP=20661;EAS_AF=0.497;AMR_AF=0.2925;AFR_AF=0.3714;EUR_AF=0.1869;SAS_AF=0.1656;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12021A:p.A4007A,OBSCN:NM_052843:exon45:c.G12021A:p.A4007A,OBSCN:NM_001271223:exon56:c.G14892A:p.A4964A;1000g2015aug_all=0.308506;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1945;ExAC_nontcga_ALL=0.3253;ExAC_nontcga_AFR=0.4455;ExAC_nontcga_AMR=0.4944;ExAC_nontcga_EAS=0.5776;ExAC_nontcga_FIN=0.3068;ExAC_nontcga_NFE=0.2696;ExAC_nontcga_OTH=0.2952;ExAC_nontcga_SAS=0.2038;AF=0.2674;AF_popmax=0.5039;AF_male=0.2687;AF_female=0.2658;AF_raw=0.2675;AF_afr=0.3751;AF_sas=.;AF_amr=0.3585;AF_eas=0.5039;AF_nfe=0.1927;AF_fin=0.2192;AF_asj=0.2414;AF_oth=0.2169;non_topmed_AF_popmax=0.5020;non_neuro_AF_popmax=0.5039;non_cancer_AF_popmax=.;controls_AF_popmax=0.5121;Kaviar_AF=0.239111;Kaviar_AC=36967;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228494790 rs435776 G A 100 PASS AC=97;AF=0.26857;AN=214;NS=2504;DP=18993;EAS_AF=0.249;AMR_AF=0.3775;AFR_AF=0.0605;EUR_AF=0.4841;SAS_AF=0.271;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;1000g2015aug_all=0.26857;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs435776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.455;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_rankscore=0.434;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_rankscore=0.345;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_converted_rankscore=0.185;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.005;MutationAssessor_score_rankscore=0.253;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_converted_rankscore=0.046;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.488;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.285;MetaSVM_score=-0.983;MetaSVM_rankscore=0.343;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.033;REVEL_rankscore=0.083;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.944;CADD_raw_rankscore=0.414;CADD_phred=22.0;DANN_score=0.684;DANN_rankscore=0.084;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_rankscore=0.155;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.902;Eigen-PC-raw=-0.965;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=0.336;GERP++_RS_rankscore=0.151;phyloP100way_vertebrate=-0.596;phyloP100way_vertebrate_rankscore=0.058;phyloP20way_mammalian=-0.239;phyloP20way_mammalian_rankscore=0.092;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.364;SiPhy_29way_logOdds_rankscore=0.258;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4939;ExAC_nontcga_ALL=0.4040;ExAC_nontcga_AFR=0.1006;ExAC_nontcga_AMR=0.3340;ExAC_nontcga_EAS=0.2012;ExAC_nontcga_FIN=0.5709;ExAC_nontcga_NFE=0.4980;ExAC_nontcga_OTH=0.4311;ExAC_nontcga_SAS=0.3266;AF=0.3883;AF_popmax=0.5198;AF_male=0.3815;AF_female=0.3967;AF_raw=0.3879;AF_afr=0.1103;AF_sas=.;AF_amr=0.3747;AF_eas=0.1990;AF_nfe=0.5198;AF_fin=0.5582;AF_asj=0.4207;AF_oth=0.4779;non_topmed_AF_popmax=0.5222;non_neuro_AF_popmax=0.5200;non_cancer_AF_popmax=.;controls_AF_popmax=0.5393;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228496014 rs876180 G A 100 PASS AC=31;AF=0.213059;AN=214;NS=2504;DP=18436;EAS_AF=0.1825;AMR_AF=0.2781;AFR_AF=0.32;EUR_AF=0.161;SAS_AF=0.1074;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12669A:p.T4223T,OBSCN:NM_052843:exon47:c.G12669A:p.T4223T,OBSCN:NM_001271223:exon58:c.G15540A:p.T5180T;1000g2015aug_all=0.213059;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876180;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1772;ExAC_nontcga_ALL=0.2421;ExAC_nontcga_AFR=0.3678;ExAC_nontcga_AMR=0.4435;ExAC_nontcga_EAS=0.2233;ExAC_nontcga_FIN=0.2009;ExAC_nontcga_NFE=0.2182;ExAC_nontcga_OTH=0.2268;ExAC_nontcga_SAS=0.1396;AF=0.2186;AF_popmax=0.3443;AF_male=0.2189;AF_female=0.2182;AF_raw=0.2187;AF_afr=0.3258;AF_sas=.;AF_amr=0.3443;AF_eas=0.1750;AF_nfe=0.1706;AF_fin=0.1637;AF_asj=0.2138;AF_oth=0.1838;non_topmed_AF_popmax=0.3432;non_neuro_AF_popmax=0.3339;non_cancer_AF_popmax=.;controls_AF_popmax=0.3294;Kaviar_AF=0.192514;Kaviar_AC=29763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228497053 rs379620 A G 100 PASS AC=134;AF=0.698682;AN=214;NS=2504;DP=20425;EAS_AF=0.746;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.673;SAS_AF=0.4387;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.698682;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs379620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7519;AF_popmax=0.8239;AF_male=0.7508;AF_female=0.7532;AF_raw=0.7513;AF_afr=0.8239;AF_sas=.;AF_amr=0.7524;AF_eas=0.7040;AF_nfe=0.7142;AF_fin=0.7785;AF_asj=0.6562;AF_oth=0.7160;non_topmed_AF_popmax=0.8237;non_neuro_AF_popmax=0.8367;non_cancer_AF_popmax=.;controls_AF_popmax=0.8353;Kaviar_AF=0.135723;Kaviar_AC=20983;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228497066 rs555684032 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555684032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +1 228497286 rs56852844 C A 100 PASS AC=6;AF=0.0932508;AN=214;NS=2504;DP=20530;EAS_AF=0.3145;AMR_AF=0.013;AFR_AF=0.0439;EUR_AF=0.0258;SAS_AF=0.0583;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0932508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56852844;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0188;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0451;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0.3420;ExAC_nontcga_FIN=0.0565;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0466;AF=0.0466;AF_popmax=0.3260;AF_male=0.0477;AF_female=0.0453;AF_raw=0.0468;AF_afr=0.0417;AF_sas=.;AF_amr=0.0130;AF_eas=0.3260;AF_nfe=0.0225;AF_fin=0.0553;AF_asj=0.0241;AF_oth=0.0331;non_topmed_AF_popmax=0.3219;non_neuro_AF_popmax=0.3260;non_cancer_AF_popmax=.;controls_AF_popmax=0.3286;Kaviar_AF=0.0477484;Kaviar_AC=7382;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228503677 rs1150912 A G 100 PASS AC=134;AF=0.700879;AN=214;NS=2504;DP=13554;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8722;EUR_AF=0.674;SAS_AF=0.4387;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;1000g2015aug_all=0.700879;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.866;SIFT_converted_rankscore=0.026;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_converted_rankscore=0.177;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.44;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_converted_rankscore=0.044;FATHMM_pred=T;PROVEAN_score=-0.21;PROVEAN_converted_rankscore=0.103;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.009;MetaSVM_score=-1.035;MetaSVM_rankscore=0.187;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.279;CADD_raw_rankscore=0.005;CADD_phred=0.001;DANN_score=0.651;DANN_rankscore=0.075;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_rankscore=0.111;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.626;Eigen-PC-raw=-1.646;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-6.7;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.125;phyloP100way_vertebrate_rankscore=0.105;phyloP20way_mammalian=-1.090;phyloP20way_mammalian_rankscore=0.019;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=11.509;SiPhy_29way_logOdds_rankscore=0.495;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7056;ExAC_nontcga_ALL=0.6990;ExAC_nontcga_AFR=0.8349;ExAC_nontcga_AMR=0.7608;ExAC_nontcga_EAS=0.7308;ExAC_nontcga_FIN=0.7888;ExAC_nontcga_NFE=0.7121;ExAC_nontcga_OTH=0.6947;ExAC_nontcga_SAS=0.5178;AF=0.7526;AF_popmax=0.8288;AF_male=0.7521;AF_female=0.7532;AF_raw=0.7525;AF_afr=0.8288;AF_sas=.;AF_amr=0.7512;AF_eas=0.7023;AF_nfe=0.7134;AF_fin=0.7780;AF_asj=0.6586;AF_oth=0.7153;non_topmed_AF_popmax=0.8286;non_neuro_AF_popmax=0.8413;non_cancer_AF_popmax=.;controls_AF_popmax=0.8397;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228503711 rs116266256 G A 100 PASS AC=2;AF=0.0129792;AN=214;NS=2504;DP=13705;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0045;EUR_AF=0.0298;SAS_AF=0.0215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13176A:p.E4392E,OBSCN:NM_052843:exon50:c.G13176A:p.E4392E,OBSCN:NM_001271223:exon61:c.G16047A:p.E5349E;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116266256;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0384;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0125;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0522;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0345;AF=0.0274;AF_popmax=0.0431;AF_male=0.0262;AF_female=0.0290;AF_raw=0.0274;AF_afr=0.0062;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0431;AF_fin=0.0239;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.0429;non_neuro_AF_popmax=0.0442;non_cancer_AF_popmax=.;controls_AF_popmax=0.0481;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.031577;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228503798 rs554360930 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13859;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13263A:p.T4421T,OBSCN:NM_052843:exon50:c.G13263A:p.T4421T,OBSCN:NM_001271223:exon61:c.G16134A:p.T5378T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554360930;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504373 rs150789926 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150789926;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.822e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.517e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.191e-05;AF_popmax=6.494e-05;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.357e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504472 rs1188732 T C 100 PASS AC=134;AF=0.699281;AN=214;NS=2504;DP=15124;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.674;SAS_AF=0.4387;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;1000g2015aug_all=0.699281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.453;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_converted_rankscore=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.455;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=-0.89;FATHMM_converted_rankscore=0.748;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_converted_rankscore=0.966;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.048;MetaSVM_score=-1.024;MetaSVM_rankscore=0.223;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.119;REVEL_rankscore=0.336;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.304;CADD_raw_rankscore=0.022;CADD_phred=0.004;DANN_score=0.412;DANN_rankscore=0.029;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_rankscore=0.060;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.857;Eigen-PC-raw=-1.861;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.27;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=0.597;phyloP100way_vertebrate_rankscore=0.236;phyloP20way_mammalian=-0.364;phyloP20way_mammalian_rankscore=0.068;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=3.614;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7008;ExAC_nontcga_ALL=0.6935;ExAC_nontcga_AFR=0.8296;ExAC_nontcga_AMR=0.7518;ExAC_nontcga_EAS=0.7257;ExAC_nontcga_FIN=0.7761;ExAC_nontcga_NFE=0.7063;ExAC_nontcga_OTH=0.6516;ExAC_nontcga_SAS=0.5030;AF=0.7515;AF_popmax=0.8239;AF_male=0.7504;AF_female=0.7530;AF_raw=0.7514;AF_afr=0.8239;AF_sas=.;AF_amr=0.7518;AF_eas=0.7049;AF_nfe=0.7136;AF_fin=0.7781;AF_asj=0.6562;AF_oth=0.7177;non_topmed_AF_popmax=0.8236;non_neuro_AF_popmax=0.8364;non_cancer_AF_popmax=.;controls_AF_popmax=0.8353;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228504507 rs114932694 G T 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=15205;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13383T:p.V4461V,OBSCN:NM_052843:exon51:c.G13383T:p.V4461V,OBSCN:NM_001271223:exon62:c.G16254T:p.V5418V;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114932694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0203;ExAC_nontcga_ALL=0.0170;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0340;ExAC_nontcga_NFE=0.0265;ExAC_nontcga_OTH=0.0156;ExAC_nontcga_SAS=0.0020;AF=0.0133;AF_popmax=0.0174;AF_male=0.0127;AF_female=0.0140;AF_raw=0.0134;AF_afr=0.0040;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0219;AF_asj=0.0207;AF_oth=0.0193;non_topmed_AF_popmax=0.0154;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0137385;Kaviar_AC=2124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228504591 rs61825301 C A 100 PASS AC=31;AF=0.145367;AN=214;NS=2504;DP=14096;EAS_AF=0.1518;AMR_AF=0.2349;AFR_AF=0.121;EUR_AF=0.159;SAS_AF=0.0941;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13467A:p.H4489Q,OBSCN:NM_052843:exon51:c.C13467A:p.H4489Q,OBSCN:NM_001271223:exon62:c.C16338A:p.H5446Q;1000g2015aug_all=0.145367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825301;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.835;Polyphen2_HVAR_rankscore=0.639;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=P;MutationAssessor_score=2.165;MutationAssessor_score_rankscore=0.608;MutationAssessor_pred=M;FATHMM_score=-1.06;FATHMM_converted_rankscore=0.768;FATHMM_pred=T;PROVEAN_score=-3.51;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.228;VEST3_rankscore=0.418;MetaSVM_score=-1.041;MetaSVM_rankscore=0.169;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.309;REVEL_rankscore=0.634;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.476;CADD_raw_rankscore=0.240;CADD_phred=13.19;DANN_score=0.670;DANN_rankscore=0.080;fathmm-MKL_coding_score=0.134;fathmm-MKL_coding_rankscore=0.176;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.564;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.093;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.187;GERP++_RS_rankscore=0.143;phyloP100way_vertebrate=-0.656;phyloP100way_vertebrate_rankscore=0.054;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.259;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=9.788;SiPhy_29way_logOdds_rankscore=0.397;Interpro_domain=Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1672;ExAC_nontcga_ALL=0.2447;ExAC_nontcga_AFR=0.2283;ExAC_nontcga_AMR=0.4364;ExAC_nontcga_EAS=0.2484;ExAC_nontcga_FIN=0.2704;ExAC_nontcga_NFE=0.2717;ExAC_nontcga_OTH=0.25;ExAC_nontcga_SAS=0.1270;AF=0.1680;AF_popmax=0.2889;AF_male=0.1660;AF_female=0.1706;AF_raw=0.1683;AF_afr=0.1631;AF_sas=.;AF_amr=0.2889;AF_eas=0.1347;AF_nfe=0.1683;AF_fin=0.1616;AF_asj=0.1966;AF_oth=0.1685;non_topmed_AF_popmax=0.2864;non_neuro_AF_popmax=0.2852;non_cancer_AF_popmax=.;controls_AF_popmax=0.2317;Kaviar_AF=0.142967;Kaviar_AC=22103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228504669 rs61825302 G A 100 PASS AC=31;AF=0.145567;AN=214;NS=2504;DP=13931;EAS_AF=0.1518;AMR_AF=0.2349;AFR_AF=0.1218;EUR_AF=0.159;SAS_AF=0.0941;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13545A:p.A4515A,OBSCN:NM_052843:exon51:c.G13545A:p.A4515A,OBSCN:NM_001271223:exon62:c.G16416A:p.A5472A;1000g2015aug_all=0.145567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825302;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1453;ExAC_nontcga_ALL=0.1650;ExAC_nontcga_AFR=0.2004;ExAC_nontcga_AMR=0.32;ExAC_nontcga_EAS=0.1235;ExAC_nontcga_FIN=0.2;ExAC_nontcga_NFE=0.2176;ExAC_nontcga_OTH=0.2115;ExAC_nontcga_SAS=0.1299;AF=0.1732;AF_popmax=0.2938;AF_male=0.1707;AF_female=0.1765;AF_raw=0.1685;AF_afr=0.1712;AF_sas=.;AF_amr=0.2938;AF_eas=0.1373;AF_nfe=0.1727;AF_fin=0.1652;AF_asj=0.1979;AF_oth=0.1733;non_topmed_AF_popmax=0.2907;non_neuro_AF_popmax=0.2894;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0800054;Kaviar_AC=12369;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228504670 rs11810627 C T 100 PASS AC=97;AF=0.330272;AN=214;NS=2504;DP=13971;EAS_AF=0.249;AMR_AF=0.4006;AFR_AF=0.2791;EUR_AF=0.4861;SAS_AF=0.273;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;1000g2015aug_all=0.330272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11810627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_converted_rankscore=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_rankscore=0.224;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.198;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-1.07;FATHMM_converted_rankscore=0.770;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.449;MetaSVM_score=-0.946;MetaSVM_rankscore=0.417;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.693;CADD_raw_rankscore=0.501;CADD_phred=23.3;DANN_score=0.809;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_rankscore=0.305;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.684;Eigen-PC-raw=-0.698;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.095;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-0.971;GERP++_RS_rankscore=0.097;phyloP100way_vertebrate=2.093;phyloP100way_vertebrate_rankscore=0.411;phyloP20way_mammalian=0.035;phyloP20way_mammalian_rankscore=0.151;phastCons100way_vertebrate=0.983;phastCons100way_vertebrate_rankscore=0.354;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=10.362;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Fibronectin_type_III|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000269934.1|ENSG00000154358.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4398;ExAC_nontcga_ALL=0.4139;ExAC_nontcga_AFR=0.3416;ExAC_nontcga_AMR=0.3421;ExAC_nontcga_EAS=0.2126;ExAC_nontcga_FIN=0.6111;ExAC_nontcga_NFE=0.4984;ExAC_nontcga_OTH=0.4545;ExAC_nontcga_SAS=0.3816;AF=0.4421;AF_popmax=0.5220;AF_male=0.4379;AF_female=0.4474;AF_raw=0.4362;AF_afr=0.2912;AF_sas=.;AF_amr=0.3830;AF_eas=0.2018;AF_nfe=0.5220;AF_fin=0.5621;AF_asj=0.4207;AF_oth=0.4935;non_topmed_AF_popmax=0.5254;non_neuro_AF_popmax=0.5222;non_cancer_AF_popmax=.;controls_AF_popmax=0.5435;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228504701 rs111792077 G GCTCC 100 PASS AC=134;AF=0.699081;AN=214;NS=2504;DP=14096;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8654;EUR_AF=0.674;SAS_AF=0.4387;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.699081;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111792077;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6286;ExAC_nontcga_ALL=0.6097;ExAC_nontcga_AFR=0.8455;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.6413;ExAC_nontcga_FIN=0.3;ExAC_nontcga_NFE=0.7038;ExAC_nontcga_OTH=0.7353;ExAC_nontcga_SAS=0.5412;AF=0.7497;AF_popmax=0.8225;AF_male=0.7488;AF_female=0.7509;AF_raw=0.7496;AF_afr=0.8225;AF_sas=.;AF_amr=0.7524;AF_eas=0.6952;AF_nfe=0.7119;AF_fin=0.7774;AF_asj=0.6586;AF_oth=0.7149;non_topmed_AF_popmax=0.8223;non_neuro_AF_popmax=0.8340;non_cancer_AF_popmax=.;controls_AF_popmax=0.8335;Kaviar_AF=0.0302066;Kaviar_AC=4670;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505204 rs4653942 G A 100 PASS AC=37;AF=0.315296;AN=214;NS=2504;DP=15262;EAS_AF=0.499;AMR_AF=0.2954;AFR_AF=0.3941;EUR_AF=0.1869;SAS_AF=0.1656;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13601A:p.R4534H,OBSCN:NM_052843:exon52:c.G13601A:p.R4534H,OBSCN:NM_001271223:exon63:c.G16472A:p.R5491H;1000g2015aug_all=0.315296;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4653942;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.702;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.295;Polyphen2_HVAR_rankscore=0.525;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_converted_rankscore=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.445;MutationAssessor_score_rankscore=0.128;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.214;MetaSVM_score=-0.932;MetaSVM_rankscore=0.438;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.357;CADD_raw_rankscore=0.462;CADD_phred=22.9;DANN_score=0.953;DANN_rankscore=0.261;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.081;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.422;Eigen-PC-raw=-0.553;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.110;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.36;GERP++_RS_rankscore=0.281;phyloP100way_vertebrate=1.069;phyloP100way_vertebrate_rankscore=0.300;phyloP20way_mammalian=0.026;phyloP20way_mammalian_rankscore=0.148;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=2.871;SiPhy_29way_logOdds_rankscore=0.052;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1944;ExAC_nontcga_ALL=0.2650;ExAC_nontcga_AFR=0.4106;ExAC_nontcga_AMR=0.4043;ExAC_nontcga_EAS=0.5268;ExAC_nontcga_FIN=0.2177;ExAC_nontcga_NFE=0.2105;ExAC_nontcga_OTH=0.2259;ExAC_nontcga_SAS=0.1699;AF=0.2717;AF_popmax=0.5026;AF_male=0.2736;AF_female=0.2693;AF_raw=0.2723;AF_afr=0.3909;AF_sas=.;AF_amr=0.3605;AF_eas=0.5026;AF_nfe=0.1926;AF_fin=0.2191;AF_asj=0.2396;AF_oth=0.2161;non_topmed_AF_popmax=0.5007;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.5110;Kaviar_AF=0.242164;Kaviar_AC=37439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228505518 rs146099527 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16701;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146099527;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0035;AF_popmax=0.0056;AF_male=0.0032;AF_female=0.0038;AF_raw=0.0035;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0036;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505668 rs1188729 C G 100 PASS AC=134;AF=0.699281;AN=214;NS=2504;DP=18143;EAS_AF=0.748;AMR_AF=0.7147;AFR_AF=0.8661;EUR_AF=0.674;SAS_AF=0.4387;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;1000g2015aug_all=0.699281;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_converted_rankscore=0.165;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.655;MutationAssessor_score_rankscore=0.021;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_converted_rankscore=0.004;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.118;MetaSVM_score=-0.986;MetaSVM_rankscore=0.335;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.755;CADD_raw_rankscore=0.166;CADD_phred=9.181;DANN_score=0.322;DANN_rankscore=0.018;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.005;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.891;Eigen-PC-raw=-0.812;GenoCanyon_score=0.047;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.58;GERP++_RS_rankscore=0.299;phyloP100way_vertebrate=0.832;phyloP100way_vertebrate_rankscore=0.270;phyloP20way_mammalian=0.037;phyloP20way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.115;phastCons20way_mammalian_rankscore=0.194;SiPhy_29way_logOdds=7.934;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7016;ExAC_nontcga_ALL=0.6926;ExAC_nontcga_AFR=0.8289;ExAC_nontcga_AMR=0.7498;ExAC_nontcga_EAS=0.7276;ExAC_nontcga_FIN=0.7731;ExAC_nontcga_NFE=0.7049;ExAC_nontcga_OTH=0.6507;ExAC_nontcga_SAS=0.4955;AF=0.7511;AF_popmax=0.8232;AF_male=0.7501;AF_female=0.7523;AF_raw=0.7510;AF_afr=0.8232;AF_sas=.;AF_amr=0.7524;AF_eas=0.7027;AF_nfe=0.7136;AF_fin=0.7784;AF_asj=0.6586;AF_oth=0.7127;non_topmed_AF_popmax=0.8229;non_neuro_AF_popmax=0.8365;non_cancer_AF_popmax=.;controls_AF_popmax=0.8357;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505699 rs1188728 T C 100 PASS AC=134;AF=0.705871;AN=214;NS=2504;DP=17728;EAS_AF=0.748;AMR_AF=0.719;AFR_AF=0.8888;EUR_AF=0.674;SAS_AF=0.4387;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;1000g2015aug_all=0.705871;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7008;ExAC_nontcga_ALL=0.6956;ExAC_nontcga_AFR=0.8526;ExAC_nontcga_AMR=0.7511;ExAC_nontcga_EAS=0.7283;ExAC_nontcga_FIN=0.7775;ExAC_nontcga_NFE=0.7061;ExAC_nontcga_OTH=0.6522;ExAC_nontcga_SAS=0.4956;AF=0.7586;AF_popmax=0.8499;AF_male=0.7581;AF_female=0.7592;AF_raw=0.7585;AF_afr=0.8499;AF_sas=.;AF_amr=0.7535;AF_eas=0.7031;AF_nfe=0.7135;AF_fin=0.7782;AF_asj=0.6586;AF_oth=0.7149;non_topmed_AF_popmax=0.8495;non_neuro_AF_popmax=0.8617;non_cancer_AF_popmax=.;controls_AF_popmax=0.8595;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228505725 rs200399314 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17819;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.A13982C:p.E4661A,OBSCN:NM_052843:exon53:c.A13982C:p.E4661A,OBSCN:NM_001271223:exon64:c.A16853C:p.E5618A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200399314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.477;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=2.115;MutationAssessor_score_rankscore=0.589;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.331;VEST3_rankscore=0.462;MetaSVM_score=-0.164;MetaSVM_rankscore=0.786;MetaSVM_pred=T;MetaLR_score=0.430;MetaLR_rankscore=0.772;MetaLR_pred=T;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.399;REVEL_rankscore=0.717;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.123;CADD_raw_rankscore=0.435;CADD_phred=22.6;DANN_score=0.982;DANN_rankscore=0.390;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.610;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.379;Eigen-PC-raw=0.286;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.51;GERP++_RS_rankscore=0.544;phyloP100way_vertebrate=1.593;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=1.026;phyloP20way_mammalian_rankscore=0.645;phastCons100way_vertebrate=0.445;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=13.677;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0004;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0138;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505727 rs3795800 C T 100 PASS AC=6;AF=0.086262;AN=214;NS=2504;DP=17760;EAS_AF=0.3165;AMR_AF=0.0115;AFR_AF=0.0166;EUR_AF=0.0258;SAS_AF=0.0583;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13984T:p.R4662C,OBSCN:NM_052843:exon53:c.C13984T:p.R4662C,OBSCN:NM_001271223:exon64:c.C16855T:p.R5619C;1000g2015aug_all=0.086262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795800;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.05;SIFT_converted_rankscore=0.395;SIFT_pred=D;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.792;LRT_converted_rankscore=0.067;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.226;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_score_rankscore=0.640;MutationAssessor_pred=M;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=N;VEST3_score=0.102;VEST3_rankscore=0.299;MetaSVM_score=-1.035;MetaSVM_rankscore=0.189;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.095;REVEL_rankscore=0.279;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.382;CADD_raw_rankscore=0.348;CADD_phred=18.70;DANN_score=0.769;DANN_rankscore=0.113;fathmm-MKL_coding_score=0.047;fathmm-MKL_coding_rankscore=0.103;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.678;Eigen-PC-raw=-0.708;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.197;GERP++_RS_rankscore=0.144;phyloP100way_vertebrate=-0.204;phyloP100way_vertebrate_rankscore=0.093;phyloP20way_mammalian=-1.171;phyloP20way_mammalian_rankscore=0.017;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=3.625;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0186;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0183;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0.3416;ExAC_nontcga_FIN=0.0564;ExAC_nontcga_NFE=0.0230;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0467;AF=0.0401;AF_popmax=0.3280;AF_male=0.0413;AF_female=0.0387;AF_raw=0.0402;AF_afr=0.0187;AF_sas=.;AF_amr=0.0130;AF_eas=0.3280;AF_nfe=0.0223;AF_fin=0.0552;AF_asj=0.0241;AF_oth=0.0303;non_topmed_AF_popmax=0.3236;non_neuro_AF_popmax=0.3280;non_cancer_AF_popmax=.;controls_AF_popmax=0.3282;Kaviar_AF=0.0456721;Kaviar_AC=7061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228505739 rs3795801 G A 100 PASS AC=31;AF=0.173123;AN=214;NS=2504;DP=18063;EAS_AF=0.1518;AMR_AF=0.2435;AFR_AF=0.2216;EUR_AF=0.159;SAS_AF=0.0941;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.G13996A:p.G4666S,OBSCN:NM_052843:exon53:c.G13996A:p.G4666S,OBSCN:NM_001271223:exon64:c.G16867A:p.G5623S;1000g2015aug_all=0.173123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.385;SIFT_converted_rankscore=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_converted_rankscore=0.067;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.325;MutationAssessor_score_rankscore=0.104;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_converted_rankscore=0.488;PROVEAN_pred=N;VEST3_score=0.011;VEST3_rankscore=0.022;MetaSVM_score=-0.951;MetaSVM_rankscore=0.409;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.166;REVEL_rankscore=0.431;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.313;CADD_raw_rankscore=0.124;CADD_phred=5.818;DANN_score=0.750;DANN_rankscore=0.105;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.023;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.612;Eigen-PC-raw=-1.665;GenoCanyon_score=0.311;GenoCanyon_score_rankscore=0.193;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-5.37;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=0.214;phyloP100way_vertebrate_rankscore=0.172;phyloP20way_mammalian=-1.100;phyloP20way_mammalian_rankscore=0.018;phastCons100way_vertebrate=0.003;phastCons100way_vertebrate_rankscore=0.159;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=20.253;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000269890.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000162913.9;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1735;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.2393;ExAC_nontcga_AMR=0.3215;ExAC_nontcga_EAS=0.1539;ExAC_nontcga_FIN=0.1498;ExAC_nontcga_NFE=0.1817;ExAC_nontcga_OTH=0.1812;ExAC_nontcga_SAS=0.1042;AF=0.1914;AF_popmax=0.2972;AF_male=0.1894;AF_female=0.1940;AF_raw=0.1919;AF_afr=0.2463;AF_sas=.;AF_amr=0.2972;AF_eas=0.1345;AF_nfe=0.1683;AF_fin=0.1615;AF_asj=0.1966;AF_oth=0.1740;non_topmed_AF_popmax=0.2938;non_neuro_AF_popmax=0.2942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2426;Kaviar_AF=0.17992;Kaviar_AC=27816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228505925 rs61825304 G A 100 PASS AC=4;AF=0.00519169;AN=214;NS=2504;DP=17305;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.001;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61825304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0119;AF_popmax=0.0174;AF_male=0.0116;AF_female=0.0123;AF_raw=0.0119;AF_afr=0.0024;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0111;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0176;non_cancer_AF_popmax=.;controls_AF_popmax=0.0202;Kaviar_AF=0.0021086;Kaviar_AC=326;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506661 rs41305126 G A 100 PASS AC=6;AF=0.0107827;AN=214;NS=2504;DP=18553;EAS_AF=0.001;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.G14208A:p.L4736L,OBSCN:NM_052843:exon54:c.G14208A:p.L4736L,OBSCN:NM_001271223:exon65:c.G17079A:p.L5693L;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0230;ExAC_nontcga_ALL=0.0446;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0328;ExAC_nontcga_NFE=0.0695;ExAC_nontcga_OTH=0.0667;ExAC_nontcga_SAS=0.0207;AF=0.0129;AF_popmax=0.0185;AF_male=0.0124;AF_female=0.0136;AF_raw=0.0130;AF_afr=0.0045;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0104;AF_asj=0.0345;AF_oth=0.0212;non_topmed_AF_popmax=0.0189;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0192;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506768 rs142983293 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20655;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.C14315T:p.P4772L,OBSCN:NM_052843:exon54:c.C14315T:p.P4772L,OBSCN:NM_001271223:exon65:c.C17186T:p.P5729L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142983293;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.067;Polyphen2_HDIV_rankscore=0.246;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.214;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_converted_rankscore=0.212;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-1.45;PROVEAN_converted_rankscore=0.356;PROVEAN_pred=N;VEST3_score=0.087;VEST3_rankscore=0.230;MetaSVM_score=-1.059;MetaSVM_rankscore=0.120;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.301;MetaLR_pred=T;M-CAP_score=0.038;M-CAP_rankscore=0.581;M-CAP_pred=D;REVEL_score=0.019;REVEL_rankscore=0.035;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.693;CADD_raw_rankscore=0.265;CADD_phred=14.37;DANN_score=0.930;DANN_rankscore=0.220;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.881;Eigen-PC-raw=-0.816;GenoCanyon_score=0.028;GenoCanyon_score_rankscore=0.138;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.13;GERP++_RS_rankscore=0.263;phyloP100way_vertebrate=-0.365;phyloP100way_vertebrate_rankscore=0.076;phyloP20way_mammalian=-0.561;phyloP20way_mammalian_rankscore=0.047;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.033;phastCons20way_mammalian_rankscore=0.150;SiPhy_29way_logOdds=4.527;SiPhy_29way_logOdds_rankscore=0.113;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0007;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228506965 rs147741962 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147741962;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228509367 rs367752269 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19533;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.G14825A:p.R4942Q,OBSCN:NM_052843:exon55:c.G14825A:p.R4942Q,OBSCN:NM_001271223:exon66:c.G17696A:p.R5899Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367752269;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.413;Polyphen2_HDIV_rankscore=0.333;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_rankscore=0.264;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.469;LRT_pred=D;MutationTaster_score=0.507;MutationTaster_converted_rankscore=0.340;MutationTaster_pred=D;MutationAssessor_score=1.72;MutationAssessor_score_rankscore=0.446;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.17;PROVEAN_converted_rankscore=0.490;PROVEAN_pred=N;VEST3_score=0.193;VEST3_rankscore=0.441;MetaSVM_score=-0.907;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.335;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.562;M-CAP_pred=D;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.644;CADD_raw_rankscore=0.911;CADD_phred=32;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.899;fathmm-MKL_coding_rankscore=0.503;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.029;Eigen-PC-raw=0.122;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.102;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=5.090;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.490;phastCons20way_mammalian_rankscore=0.269;SiPhy_29way_logOdds=10.265;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507127|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228509427 rs373610 A G 100 PASS AC=134;AF=0.684704;AN=214;NS=2504;DP=19311;EAS_AF=0.7044;AMR_AF=0.6758;AFR_AF=0.8684;EUR_AF=0.674;SAS_AF=0.4335;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;1000g2015aug_all=0.684704;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.028;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_converted_rankscore=0.189;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.095;MutationAssessor_score_rankscore=0.275;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_converted_rankscore=0.100;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.062;MetaSVM_score=-1.006;MetaSVM_rankscore=0.281;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.126;REVEL_rankscore=0.352;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.311;CADD_raw_rankscore=0.068;CADD_phred=0.626;DANN_score=0.720;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_rankscore=0.230;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.810;Eigen-PC-raw=-0.677;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=1.91;GERP++_RS_rankscore=0.247;phyloP100way_vertebrate=2.138;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=-1.014;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.970;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.036;phastCons20way_mammalian_rankscore=0.153;SiPhy_29way_logOdds=4.77;SiPhy_29way_logOdds_rankscore=0.124;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000154358.15|ENSG00000270110.1|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6968;ExAC_nontcga_ALL=0.6841;ExAC_nontcga_AFR=0.8295;ExAC_nontcga_AMR=0.7041;ExAC_nontcga_EAS=0.6851;ExAC_nontcga_FIN=0.7721;ExAC_nontcga_NFE=0.7041;ExAC_nontcga_OTH=0.6478;ExAC_nontcga_SAS=0.4943;AF=0.7485;AF_popmax=0.8242;AF_male=0.7469;AF_female=0.7505;AF_raw=0.7482;AF_afr=0.8242;AF_sas=.;AF_amr=0.7087;AF_eas=0.6677;AF_nfe=0.7137;AF_fin=0.7782;AF_asj=0.6586;AF_oth=0.7114;non_topmed_AF_popmax=0.8239;non_neuro_AF_popmax=0.8368;non_cancer_AF_popmax=.;controls_AF_popmax=0.8357;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507127|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|0 1|0 1|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 1|1 1|0 1|1 0|1 1|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228511197 rs560771726 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20140;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon56:c.G15542A:p.G5181D,OBSCN:NM_052843:exon56:c.G15542A:p.G5181D,OBSCN:NM_001271223:exon67:c.G18413A:p.G6138D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560771726;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.297;SIFT_converted_rankscore=0.158;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.513;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.639;PROVEAN_pred=D;VEST3_score=0.451;VEST3_rankscore=0.540;MetaSVM_score=-0.684;MetaSVM_rankscore=0.612;MetaSVM_pred=T;MetaLR_score=0.307;MetaLR_rankscore=0.678;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.417;M-CAP_pred=T;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=0.418;MutPred_rankscore=0.459;CADD_raw=5.134;CADD_raw_rankscore=0.692;CADD_phred=25.4;DANN_score=0.995;DANN_rankscore=0.678;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.591;Eigen-PC-raw=0.621;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=7.745;phyloP100way_vertebrate_rankscore=0.838;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=18.645;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.039834;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228511240 rs183960364 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20054;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon56:c.C15585T:p.G5195G,OBSCN:NM_052843:exon56:c.C15585T:p.G5195G,OBSCN:NM_001271223:exon67:c.C18456T:p.G6152G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs183960364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0019;AF=3.187e-05;AF_popmax=6.485e-05;AF_male=0;AF_female=7.186e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.667258;ALLELE_END;VINYL_score=5 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228520538 rs368297957 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18862;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368297957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.107e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0010;AF_male=0.0005;AF_female=0.0009;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0020;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228520880 rs416564 C T 100 PASS AC=86;AF=0.341853;AN=214;NS=2504;DP=17066;EAS_AF=0.249;AMR_AF=0.389;AFR_AF=0.4433;EUR_AF=0.4215;SAS_AF=0.1851;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.341853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs416564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4158;ExAC_nontcga_ALL=0.3930;ExAC_nontcga_AFR=0.4183;ExAC_nontcga_AMR=0.3699;ExAC_nontcga_EAS=0.2272;ExAC_nontcga_FIN=0.5008;ExAC_nontcga_NFE=0.4582;ExAC_nontcga_OTH=0.3728;ExAC_nontcga_SAS=0.2548;AF=0.4188;AF_popmax=0.4468;AF_male=0.4185;AF_female=0.4191;AF_raw=0.4189;AF_afr=0.4006;AF_sas=.;AF_amr=0.3641;AF_eas=0.1996;AF_nfe=0.4468;AF_fin=0.4609;AF_asj=0.3472;AF_oth=0.4099;non_topmed_AF_popmax=0.4456;non_neuro_AF_popmax=0.4469;non_cancer_AF_popmax=.;controls_AF_popmax=0.4550;Kaviar_AF=0.320293;Kaviar_AC=49518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228520973 rs369909 C G 100 PASS AC=86;AF=0.335064;AN=214;NS=2504;DP=17947;EAS_AF=0.249;AMR_AF=0.3847;AFR_AF=0.4183;EUR_AF=0.4205;SAS_AF=0.1881;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;1000g2015aug_all=0.335064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369909;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.179;SIFT_converted_rankscore=0.220;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.205;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.220;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_converted_rankscore=0.318;LRT_pred=N;MutationTaster_score=0.936;MutationTaster_converted_rankscore=0.288;MutationTaster_pred=P;MutationAssessor_score=0.19;MutationAssessor_score_rankscore=0.091;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.164;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.159;MetaSVM_score=-0.973;MetaSVM_rankscore=0.367;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.995;CADD_raw_rankscore=0.301;CADD_phred=16.18;DANN_score=0.992;DANN_rankscore=0.548;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_rankscore=0.353;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.342;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.067;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=1.482;phyloP100way_vertebrate_rankscore=0.349;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.164;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000162913.9|ENSG00000154358.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4179;ExAC_nontcga_ALL=0.3848;ExAC_nontcga_AFR=0.4095;ExAC_nontcga_AMR=0.3817;ExAC_nontcga_EAS=0.2566;ExAC_nontcga_FIN=0.5105;ExAC_nontcga_NFE=0.4687;ExAC_nontcga_OTH=0.3571;ExAC_nontcga_SAS=0.2621;AF=0.4111;AF_popmax=0.4465;AF_male=0.4104;AF_female=0.4119;AF_raw=0.4113;AF_afr=0.3731;AF_sas=.;AF_amr=0.3632;AF_eas=0.1996;AF_nfe=0.4465;AF_fin=0.4614;AF_asj=0.3472;AF_oth=0.4108;non_topmed_AF_popmax=0.4456;non_neuro_AF_popmax=0.4467;non_cancer_AF_popmax=.;controls_AF_popmax=0.4550;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228521002 rs56025664 C A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17422;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15834A:p.A5278A,OBSCN:NM_052843:exon58:c.C15834A:p.A5278A,OBSCN:NM_001271223:exon69:c.C18705A:p.A6235A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56025664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.076251;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228522357 rs75294246 G A 100 PASS AC=11;AF=0.00938498;AN=214;NS=2504;DP=14819;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0308;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75294246;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0143;AF_popmax=0.0228;AF_male=0.0142;AF_female=0.0144;AF_raw=0.0143;AF_afr=0.0053;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0095;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0197;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.019018;Kaviar_AC=495;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228522483 rs11581192 C T 100 PASS AC=5;AF=0.034345;AN=214;NS=2504;DP=14555;EAS_AF=0.0506;AMR_AF=0.0216;AFR_AF=0.0303;EUR_AF=0.0328;SAS_AF=0.0337;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.034345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11581192;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0328;ExAC_nontcga_ALL=0.0417;ExAC_nontcga_AFR=0.0387;ExAC_nontcga_AMR=0.0487;ExAC_nontcga_EAS=0.0597;ExAC_nontcga_FIN=0.1579;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0351;ExAC_nontcga_SAS=0.0345;AF=0.0424;AF_popmax=0.0478;AF_male=0.0427;AF_female=0.0419;AF_raw=0.0423;AF_afr=0.0478;AF_sas=.;AF_amr=0.0212;AF_eas=0.0391;AF_nfe=0.0370;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0396;non_topmed_AF_popmax=0.0477;non_neuro_AF_popmax=0.0514;non_cancer_AF_popmax=.;controls_AF_popmax=0.0536;Kaviar_AF=0.0188807;Kaviar_AC=2919;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228522509 rs190863029 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16579;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190863029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0045;dbscSNV_RF_SCORE=0.144;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.434e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228523005 rs60787858 T TG 100 PASS AC=100;AF=0.469449;AN=214;NS=2504;DP=3367;EAS_AF=0.5734;AMR_AF=0.3631;AFR_AF=0.4871;EUR_AF=0.499;SAS_AF=0.3834;AA=GGGGGG|GGGGG|GGGGGG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.469449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397947123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4253;ExAC_nontcga_ALL=0.3947;ExAC_nontcga_AFR=0.4419;ExAC_nontcga_AMR=0.375;ExAC_nontcga_EAS=0.5;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.4422;ExAC_nontcga_OTH=0.3333;ExAC_nontcga_SAS=0.3757;AF=0.6489;AF_popmax=0.6602;AF_male=0.6493;AF_female=0.6483;AF_raw=0.5086;AF_afr=0.6148;AF_sas=.;AF_amr=0.5465;AF_eas=0.6469;AF_nfe=0.6602;AF_fin=0.6955;AF_asj=0.6149;AF_oth=0.6443;non_topmed_AF_popmax=0.659;non_neuro_AF_popmax=0.6628;non_cancer_AF_popmax=.;controls_AF_popmax=0.6638;Kaviar_AF=0.0016947;Kaviar_AC=262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|1 +1 228523042 rs556634057;rs555487385 T G,TG 100 PASS AC=2,86;AF=0.00978435,0.344449;AN=214;NS=2504;DP=2842;EAS_AF=0.003,0.249;AMR_AF=0.0043,0.3876;AFR_AF=0.003,0.4516;EUR_AF=0.002,0.4205;SAS_AF=0.0378,0.1892;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556634057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.344449;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555487385;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4471;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5048;AF_popmax=0.5166;AF_male=0.5021;AF_female=0.5083;AF_raw=0.4030;AF_afr=0.5050;AF_sas=.;AF_amr=0.4446;AF_eas=0.2525;AF_nfe=0.5166;AF_fin=0.5631;AF_asj=0.4485;AF_oth=0.4883;non_topmed_AF_popmax=0.5112;non_neuro_AF_popmax=0.5201;non_cancer_AF_popmax=.;controls_AF_popmax=0.5197;Kaviar_AF=0.0018499;Kaviar_AC=286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 2|2 0|0 0|0 2|2 2|0 0|0 2|2 0|0 0|2 2|0 0|2 2|0 2|2 2|0 0|0 0|2 0|2 2|0 0|2 2|2 0|2 2|2 0|0 2|2 0|0 0|0 0|2 2|0 0|2 0|2 2|2 0|2 2|0 0|0 2|0 0|2 0|0 0|0 0|0 2|2 0|0 0|0 0|0 2|0 2|2 0|0 0|0 2|0 0|0 0|2 0|1 2|2 0|0 0|2 2|0 2|0 0|2 0|2 0|2 0|2 0|0 2|0 2|2 0|0 0|0 0|0 0|0 0|2 0|0 0|2 0|0 0|2 0|0 0|0 2|0 2|0 0|0 0|2 2|0 0|2 0|2 2|0 0|2 2|0 0|2 0|2 2|0 2|0 0|0 0|0 2|0 2|1 0|2 2|2 2|2 0|0 0|2 0|0 0|2 2|0 0|2 0|0 2|0 2|0 0|2 2|2 0|0 +1 228523412 rs12061733 G A 100 PASS AC=17;AF=0.126797;AN=214;NS=2504;DP=15137;EAS_AF=0.3155;AMR_AF=0.0403;AFR_AF=0.0424;EUR_AF=0.0924;SAS_AF=0.1431;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12061733;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1001;AF_popmax=0.3293;AF_male=0.0983;AF_female=0.1022;AF_raw=0.1004;AF_afr=0.0501;AF_sas=.;AF_amr=0.0413;AF_eas=0.3293;AF_nfe=0.0953;AF_fin=0.1529;AF_asj=0.1;AF_oth=0.1151;non_topmed_AF_popmax=0.325;non_neuro_AF_popmax=0.3293;non_cancer_AF_popmax=.;controls_AF_popmax=0.3308;Kaviar_AF=0.0182921;Kaviar_AC=2828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228523442 rs1684868 T C 100 PASS AC=103;AF=0.478435;AN=214;NS=2504;DP=16479;EAS_AF=0.5655;AMR_AF=0.428;AFR_AF=0.4985;EUR_AF=0.5129;SAS_AF=0.362;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.478435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1684868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5171;ExAC_nontcga_ALL=0.4857;ExAC_nontcga_AFR=0.4665;ExAC_nontcga_AMR=0.3504;ExAC_nontcga_EAS=0.5435;ExAC_nontcga_FIN=0.6188;ExAC_nontcga_NFE=0.5191;ExAC_nontcga_OTH=0.4680;ExAC_nontcga_SAS=0.3969;AF=0.5220;AF_popmax=0.5398;AF_male=0.5199;AF_female=0.5246;AF_raw=0.5222;AF_afr=0.4665;AF_sas=.;AF_amr=0.4043;AF_eas=0.5251;AF_nfe=0.5398;AF_fin=0.6139;AF_asj=0.4379;AF_oth=0.5294;non_topmed_AF_popmax=0.5440;non_neuro_AF_popmax=0.5404;non_cancer_AF_popmax=.;controls_AF_popmax=0.5666;Kaviar_AF=0.466288;Kaviar_AC=72089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228523447 rs10799473 T C 100 PASS AC=175;AF=0.813498;AN=214;NS=2504;DP=16748;EAS_AF=0.7669;AMR_AF=0.7752;AFR_AF=0.9871;EUR_AF=0.829;SAS_AF=0.638;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.813498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10799473;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8251;ExAC_nontcga_ALL=0.8050;ExAC_nontcga_AFR=0.9712;ExAC_nontcga_AMR=0.7788;ExAC_nontcga_EAS=0.7648;ExAC_nontcga_FIN=0.8227;ExAC_nontcga_NFE=0.8269;ExAC_nontcga_OTH=0.7849;ExAC_nontcga_SAS=0.6775;AF=0.8636;AF_popmax=0.9653;AF_male=0.8632;AF_female=0.8641;AF_raw=0.8633;AF_afr=0.9653;AF_sas=.;AF_amr=0.8132;AF_eas=0.7648;AF_nfe=0.8291;AF_fin=0.8326;AF_asj=0.8483;AF_oth=0.8217;non_topmed_AF_popmax=0.9654;non_neuro_AF_popmax=0.9698;non_cancer_AF_popmax=.;controls_AF_popmax=0.9716;Kaviar_AF=0.0071797;Kaviar_AC=1110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 +1 228523448 rs1757161 G A 100 PASS AC=86;AF=0.352636;AN=214;NS=2504;DP=16844;EAS_AF=0.25;AMR_AF=0.3876;AFR_AF=0.4599;EUR_AF=0.4205;SAS_AF=0.2188;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757161;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3968;ExAC_nontcga_ALL=0.3728;ExAC_nontcga_AFR=0.4157;ExAC_nontcga_AMR=0.3159;ExAC_nontcga_EAS=0.2023;ExAC_nontcga_FIN=0.4599;ExAC_nontcga_NFE=0.4258;ExAC_nontcga_OTH=0.3488;ExAC_nontcga_SAS=0.2613;AF=0.4220;AF_popmax=0.4443;AF_male=0.4215;AF_female=0.4226;AF_raw=0.4224;AF_afr=0.4176;AF_sas=.;AF_amr=0.3617;AF_eas=0.1956;AF_nfe=0.4443;AF_fin=0.4605;AF_asj=0.3379;AF_oth=0.4134;non_topmed_AF_popmax=0.4436;non_neuro_AF_popmax=0.4447;non_cancer_AF_popmax=.;controls_AF_popmax=0.4551;Kaviar_AF=0.347027;Kaviar_AC=53651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228523596 rs148906235 G A 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=17605;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148906235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 228523618 rs1757160 G A 100 PASS AC=103;AF=0.474241;AN=214;NS=2504;DP=16592;EAS_AF=0.5655;AMR_AF=0.4265;AFR_AF=0.4834;EUR_AF=0.5129;SAS_AF=0.362;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.474241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757160;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5195;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5185;AF_popmax=0.5422;AF_male=0.5169;AF_female=0.5205;AF_raw=0.5187;AF_afr=0.4494;AF_sas=.;AF_amr=0.4017;AF_eas=0.5291;AF_nfe=0.5422;AF_fin=0.6137;AF_asj=0.4410;AF_oth=0.5285;non_topmed_AF_popmax=0.5464;non_neuro_AF_popmax=0.5429;non_cancer_AF_popmax=.;controls_AF_popmax=0.5676;Kaviar_AF=0.0982976;Kaviar_AC=15197;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228523866 rs143580296 C G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=17880;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143580296;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0016;AF=0.0018;AF_popmax=0.0023;AF_male=0.0022;AF_female=0.0012;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0023;AF_fin=0.0003;AF_asj=0.0276;AF_oth=0.0037;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228524642 rs56063628 T C 100 PASS AC=5;AF=0.0353435;AN=214;NS=2504;DP=19297;EAS_AF=0.0546;AMR_AF=0.0216;AFR_AF=0.0325;EUR_AF=0.0328;SAS_AF=0.0317;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0353435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56063628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0426;AF_popmax=0.0479;AF_male=0.0431;AF_female=0.0419;AF_raw=0.0427;AF_afr=0.0479;AF_sas=.;AF_amr=0.0212;AF_eas=0.0397;AF_nfe=0.0373;AF_fin=0.0593;AF_asj=0.0483;AF_oth=0.0405;non_topmed_AF_popmax=0.0478;non_neuro_AF_popmax=0.0518;non_cancer_AF_popmax=.;controls_AF_popmax=0.0534;Kaviar_AF=0.0057761;Kaviar_AC=893;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228524671 rs374978474 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374978474;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228524919 rs3795807 G A 100 PASS AC=86;AF=0.240016;AN=214;NS=2504;DP=18715;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2178;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4207;ExAC_nontcga_ALL=0.3494;ExAC_nontcga_AFR=0.0951;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.2048;ExAC_nontcga_FIN=0.4670;ExAC_nontcga_NFE=0.4284;ExAC_nontcga_OTH=0.3530;ExAC_nontcga_SAS=0.2649;AF=0.3339;AF_popmax=0.4458;AF_male=0.3300;AF_female=0.3389;AF_raw=0.3340;AF_afr=0.1006;AF_sas=.;AF_amr=0.3452;AF_eas=0.1982;AF_nfe=0.4458;AF_fin=0.4620;AF_asj=0.3379;AF_oth=0.3952;non_topmed_AF_popmax=0.4446;non_neuro_AF_popmax=0.4464;non_cancer_AF_popmax=.;controls_AF_popmax=0.4546;Kaviar_AF=0.348902;Kaviar_AC=53941;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228524961 rs3795808 C A 100 PASS AC=86;AF=0.239816;AN=214;NS=2504;DP=18520;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2168;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;1000g2015aug_all=0.239816;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4226;ExAC_nontcga_ALL=0.3523;ExAC_nontcga_AFR=0.0971;ExAC_nontcga_AMR=0.3111;ExAC_nontcga_EAS=0.2100;ExAC_nontcga_FIN=0.4710;ExAC_nontcga_NFE=0.4304;ExAC_nontcga_OTH=0.3547;ExAC_nontcga_SAS=0.2665;AF=0.3342;AF_popmax=0.4461;AF_male=0.3304;AF_female=0.3390;AF_raw=0.3340;AF_afr=0.1006;AF_sas=.;AF_amr=0.3460;AF_eas=0.1972;AF_nfe=0.4461;AF_fin=0.4620;AF_asj=0.3379;AF_oth=0.3959;non_topmed_AF_popmax=0.4450;non_neuro_AF_popmax=0.4468;non_cancer_AF_popmax=.;controls_AF_popmax=0.4553;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228525008 rs3795809 G A 100 PASS AC=25;AF=0.0766773;AN=214;NS=2504;DP=18983;EAS_AF=0.0556;AMR_AF=0.1744;AFR_AF=0.0189;EUR_AF=0.1252;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.G16724A:p.R5575H,OBSCN:NM_052843:exon66:c.G16724A:p.R5575H,OBSCN:NM_001271223:exon77:c.G19595A:p.R6532H;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.123;Polyphen2_HDIV_rankscore=0.361;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.237;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.404;LRT_pred=N;MutationTaster_score=0.145;MutationTaster_converted_rankscore=0.394;MutationTaster_pred=P;MutationAssessor_score=0.49;MutationAssessor_score_rankscore=0.133;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.095;VEST3_rankscore=0.479;MetaSVM_score=-1.055;MetaSVM_rankscore=0.130;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.148;REVEL_rankscore=0.397;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.879;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.005;Eigen-PC-raw=0.059;GenoCanyon_score=0.898;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=6.658;phyloP100way_vertebrate_rankscore=0.741;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=17.467;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.;GTEx_V6p_gene=ENSG00000269890.1|ENSG00000269890.1|ENSG00000154358.15|ENSG00000168159.9|ENSG00000154358.15|ENSG00000270110.1;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1341;ExAC_nontcga_AFR=0.0346;ExAC_nontcga_AMR=0.2688;ExAC_nontcga_EAS=0.0760;ExAC_nontcga_FIN=0.1100;ExAC_nontcga_NFE=0.1512;ExAC_nontcga_OTH=0.1502;ExAC_nontcga_SAS=0.0757;AF=0.1000;AF_popmax=0.2227;AF_male=0.0975;AF_female=0.1031;AF_raw=0.0999;AF_afr=0.0353;AF_sas=.;AF_amr=0.2227;AF_eas=0.0603;AF_nfe=0.1307;AF_fin=0.1025;AF_asj=0.1552;AF_oth=0.1225;non_topmed_AF_popmax=0.2208;non_neuro_AF_popmax=0.2091;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.117198;Kaviar_AC=18119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.130515::0.290102;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525627 rs1757127 C A 100 PASS AC=86;AF=0.240216;AN=214;NS=2504;DP=15889;EAS_AF=0.25;AMR_AF=0.3458;AFR_AF=0.0575;EUR_AF=0.4185;SAS_AF=0.2188;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1757127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4221;ExAC_nontcga_ALL=0.3854;ExAC_nontcga_AFR=0.1186;ExAC_nontcga_AMR=0.3528;ExAC_nontcga_EAS=0.2571;ExAC_nontcga_FIN=0.4964;ExAC_nontcga_NFE=0.4571;ExAC_nontcga_OTH=0.3885;ExAC_nontcga_SAS=0.2883;AF=0.3329;AF_popmax=0.4444;AF_male=0.3290;AF_female=0.3379;AF_raw=0.3337;AF_afr=0.1001;AF_sas=.;AF_amr=0.3475;AF_eas=0.1967;AF_nfe=0.4444;AF_fin=0.4609;AF_asj=0.3379;AF_oth=0.3937;non_topmed_AF_popmax=0.4430;non_neuro_AF_popmax=0.4448;non_cancer_AF_popmax=.;controls_AF_popmax=0.4532;Kaviar_AF=0.337945;Kaviar_AC=52247;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228525689 rs200399831 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17709;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon67:c.G16845A:p.G5615G,OBSCN:NM_052843:exon67:c.G16845A:p.G5615G,OBSCN:NM_001271223:exon78:c.G19716A:p.G6572G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200399831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.229e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=8.063e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.379e-05;AF_popmax=0.0001;AF_male=5.732e-05;AF_female=7.191e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507125|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525799 rs528408400 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15799;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=OBSCN:NM_001098623:exon67:c.C16955A:p.S5652X,OBSCN:NM_052843:exon67:c.C16955A:p.S5652X,OBSCN:NM_001271223:exon78:c.C19826A:p.S6609X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528408400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=16.481;CADD_raw_rankscore=1.000;CADD_phred=56;DANN_score=0.989;DANN_rankscore=0.477;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.741;Eigen-PC-raw=0.578;GenoCanyon_score=0.917;GenoCanyon_score_rankscore=0.265;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=4.687;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.523;phastCons20way_mammalian_rankscore=0.275;SiPhy_29way_logOdds=16.976;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Obscurin,_SH3_domain|SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.019e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.968e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=12 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525823 rs191098985 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=14362;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon67:c.C16979T:p.A5660V,OBSCN:NM_052843:exon67:c.C16979T:p.A5660V,OBSCN:NM_001271223:exon78:c.C19850T:p.A6617V;1000g2015aug_all=0.000998403;GWAS=rs2760061|Cardiovascular-disease||1E-9|PMID:30595370;ORegAnno_REGULATORY_P=.;avsnp150=rs191098985;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=1.15;FATHMM_converted_rankscore=0.382;FATHMM_pred=T;PROVEAN_score=-2.96;PROVEAN_converted_rankscore=0.643;PROVEAN_pred=D;VEST3_score=0.406;VEST3_rankscore=0.636;MetaSVM_score=-0.776;MetaSVM_rankscore=0.565;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_rankscore=0.472;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.591;M-CAP_pred=D;REVEL_score=0.269;REVEL_rankscore=0.588;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.985;CADD_raw_rankscore=0.936;CADD_phred=33;DANN_score=0.991;DANN_rankscore=0.521;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.831;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.667;Eigen-PC-raw=0.624;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.15;GERP++_RS_rankscore=0.478;phyloP100way_vertebrate=7.575;phyloP100way_vertebrate_rankscore=0.816;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=16.976;SiPhy_29way_logOdds_rankscore=0.861;Interpro_domain=Obscurin,_SH3_domain|SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.471e-05;AF=0.0003;AF_popmax=0.0035;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228525898 rs1188717 C G 100 PASS AC=103;AF=0.538339;AN=214;NS=2504;DP=15231;EAS_AF=0.5962;AMR_AF=0.4654;AFR_AF=0.6672;EUR_AF=0.5199;SAS_AF=0.3753;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5695;AF_popmax=0.5997;AF_male=0.5698;AF_female=0.5692;AF_raw=0.5696;AF_afr=0.5997;AF_sas=.;AF_amr=0.4539;AF_eas=0.5689;AF_nfe=0.5457;AF_fin=0.6437;AF_asj=0.4552;AF_oth=0.5489;non_topmed_AF_popmax=0.5997;non_neuro_AF_popmax=0.6147;non_cancer_AF_popmax=.;controls_AF_popmax=0.6157;Kaviar_AF=0.521746;Kaviar_AC=13580;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.538339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5695;AF_popmax=0.5997;AF_male=0.5698;AF_female=0.5692;AF_raw=0.5696;AF_afr=0.5997;AF_sas=.;AF_amr=0.4539;AF_eas=0.5689;AF_nfe=0.5457;AF_fin=0.6437;AF_asj=0.4552;AF_oth=0.5489;non_topmed_AF_popmax=0.5997;non_neuro_AF_popmax=0.6147;non_cancer_AF_popmax=.;controls_AF_popmax=0.6157;Kaviar_AF=0.521746;Kaviar_AC=13580;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228526011 rs11577699 C T 100 PASS AC=25;AF=0.117612;AN=214;NS=2504;DP=16460;EAS_AF=0.1091;AMR_AF=0.1916;AFR_AF=0.1006;EUR_AF=0.1372;SAS_AF=0.0767;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon68:c.C17022T:p.A5674A,OBSCN:NM_052843:exon68:c.C17022T:p.A5674A,OBSCN:NM_001271223:exon79:c.C19893T:p.A6631A;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11577699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1578;ExAC_nontcga_ALL=0.1639;ExAC_nontcga_AFR=0.1399;ExAC_nontcga_AMR=0.2810;ExAC_nontcga_EAS=0.1181;ExAC_nontcga_FIN=0.1421;ExAC_nontcga_NFE=0.1765;ExAC_nontcga_OTH=0.1738;ExAC_nontcga_SAS=0.0944;AF=0.1465;AF_popmax=0.2364;AF_male=0.1450;AF_female=0.1484;AF_raw=0.1466;AF_afr=0.1378;AF_sas=.;AF_amr=0.2364;AF_eas=0.0987;AF_nfe=0.1546;AF_fin=0.1296;AF_asj=0.1597;AF_oth=0.1501;non_topmed_AF_popmax=0.2327;non_neuro_AF_popmax=0.2228;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.130121;Kaviar_AC=20117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526486 rs58480216 G A 100 PASS AC=86;AF=0.228435;AN=214;NS=2504;DP=16999;EAS_AF=0.247;AMR_AF=0.2651;AFR_AF=0.059;EUR_AF=0.4195;SAS_AF=0.2157;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58480216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3314;AF_popmax=0.4454;AF_male=0.3275;AF_female=0.3364;AF_raw=0.3314;AF_afr=0.1008;AF_sas=.;AF_amr=0.2960;AF_eas=0.1909;AF_nfe=0.4454;AF_fin=0.4579;AF_asj=0.3345;AF_oth=0.3904;non_topmed_AF_popmax=0.4443;non_neuro_AF_popmax=0.4460;non_cancer_AF_popmax=.;controls_AF_popmax=0.4537;Kaviar_AF=0.0609371;Kaviar_AC=9421;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228526578 rs144372515 T A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=16636;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144372515;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.12;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_rankscore=0.495;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.69;Polyphen2_HVAR_rankscore=0.519;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=0.768;MutationTaster_converted_rankscore=0.294;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_score_rankscore=0.430;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=D;VEST3_score=0.351;VEST3_rankscore=0.596;MetaSVM_score=-0.758;MetaSVM_rankscore=0.575;MetaSVM_pred=T;MetaLR_score=0.129;MetaLR_rankscore=0.438;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.269;REVEL_rankscore=0.588;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.894;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.993;DANN_rankscore=0.586;fathmm-MKL_coding_score=0.690;fathmm-MKL_coding_rankscore=0.338;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.253;Eigen-PC-raw=-0.303;GenoCanyon_score=0.939;GenoCanyon_score_rankscore=0.273;integrated_fitCons_score=0.632;integrated_fitCons_score_rankscore=0.408;integrated_confidence_value=0;GERP++_RS=-0.097;GERP++_RS_rankscore=0.129;phyloP100way_vertebrate=-0.109;phyloP100way_vertebrate_rankscore=0.107;phyloP20way_mammalian=-1.003;phyloP20way_mammalian_rankscore=0.022;phastCons100way_vertebrate=0.555;phastCons100way_vertebrate_rankscore=0.272;phastCons20way_mammalian=0.352;phastCons20way_mammalian_rankscore=0.246;SiPhy_29way_logOdds=10.255;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0079;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0049;AF=0.0084;AF_popmax=0.0107;AF_male=0.0085;AF_female=0.0083;AF_raw=0.0084;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0204;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0114;non_cancer_AF_popmax=.;controls_AF_popmax=0.008;Kaviar_AF=0.0037451;Kaviar_AC=579;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.249129;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526653 rs200092155 C A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19616;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.C17184A:p.H5728Q,OBSCN:NM_052843:exon69:c.C17184A:p.H5728Q,OBSCN:NM_001271223:exon80:c.C20055A:p.H6685Q;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200092155;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.258;SIFT_converted_rankscore=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_rankscore=0.189;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.293;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=1.57;FATHMM_converted_rankscore=0.293;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.213;MetaSVM_score=-1.039;MetaSVM_rankscore=0.175;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.230;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.168;M-CAP_pred=T;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.750;CADD_raw_rankscore=0.271;CADD_phred=14.69;DANN_score=0.892;DANN_rankscore=0.180;fathmm-MKL_coding_score=0.094;fathmm-MKL_coding_rankscore=0.150;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.297;Eigen-PC-raw=-1.512;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=-10.4;GERP++_RS_rankscore=0.003;phyloP100way_vertebrate=-1.795;phyloP100way_vertebrate_rankscore=0.018;phyloP20way_mammalian=-1.176;phyloP20way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.023;phastCons20way_mammalian_rankscore=0.138;SiPhy_29way_logOdds=8.176;SiPhy_29way_logOdds_rankscore=0.303;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0007;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000389203|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228526665 rs505629 T C 100 PASS AC=103;AF=0.494409;AN=214;NS=2504;DP=19542;EAS_AF=0.5665;AMR_AF=0.4294;AFR_AF=0.5522;EUR_AF=0.5209;SAS_AF=0.3609;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;1000g2015aug_all=0.494409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs505629;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5569;ExAC_nontcga_ALL=0.4749;ExAC_nontcga_AFR=0.5204;ExAC_nontcga_AMR=0.3944;ExAC_nontcga_EAS=0.5613;ExAC_nontcga_FIN=0.7303;ExAC_nontcga_NFE=0.5246;ExAC_nontcga_OTH=0.4531;ExAC_nontcga_SAS=0.4259;AF=0.5391;AF_popmax=0.5435;AF_male=0.5376;AF_female=0.5411;AF_raw=0.5389;AF_afr=0.5081;AF_sas=.;AF_amr=0.4092;AF_eas=0.5290;AF_nfe=0.5435;AF_fin=0.6401;AF_asj=0.4483;AF_oth=0.5434;non_topmed_AF_popmax=0.5483;non_neuro_AF_popmax=0.5442;non_cancer_AF_popmax=.;controls_AF_popmax=0.5706;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228527685 rs142093978 C T 100 PASS AC=3;AF=0.00259585;AN=214;NS=2504;DP=21740;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.C17298T:p.D5766D,OBSCN:NM_052843:exon70:c.C17298T:p.D5766D,OBSCN:NM_001271223:exon81:c.C20169T:p.D6723D;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142093978;CLNALLELEID=609409;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0056;AF_popmax=0.0067;AF_male=0.0054;AF_female=0.0059;AF_raw=0.0056;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0158;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0071;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.004269;Kaviar_AC=660;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.167062;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527749 rs56065114 C T 100 PASS AC=1;AF=0.00858626;AN=214;NS=2504;DP=20788;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0257;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.C17362T:p.R5788C,OBSCN:NM_052843:exon70:c.C17362T:p.R5788C,OBSCN:NM_001271223:exon81:c.C20233T:p.R6745C;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56065114;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-5.28;PROVEAN_converted_rankscore=0.885;PROVEAN_pred=D;VEST3_score=0.289;VEST3_rankscore=0.885;MetaSVM_score=-0.495;MetaSVM_rankscore=0.688;MetaSVM_pred=T;MetaLR_score=0.172;MetaLR_rankscore=0.514;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.658;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.261;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.996;DANN_rankscore=0.760;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.741;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.421;Eigen-PC-raw=0.362;GenoCanyon_score=0.019;GenoCanyon_score_rankscore=0.131;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=2.992;phyloP100way_vertebrate_rankscore=0.489;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.925;phastCons20way_mammalian_rankscore=0.399;SiPhy_29way_logOdds=14.139;SiPhy_29way_logOdds_rankscore=0.647;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0270;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0079;AF_popmax=0.0268;AF_male=0.0084;AF_female=0.0073;AF_raw=0.0080;AF_afr=0.0268;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0258;non_cancer_AF_popmax=.;controls_AF_popmax=0.0258;Kaviar_AF=0.0031759;Kaviar_AC=491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.539750;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527758 rs200362121 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20375;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon70:c.G17371C:p.A5791P,OBSCN:NM_052843:exon70:c.G17371C:p.A5791P,OBSCN:NM_001271223:exon81:c.G20242C:p.A6748P;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200362121;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-0.45;FATHMM_converted_rankscore=0.699;FATHMM_pred=T;PROVEAN_score=-3.82;PROVEAN_converted_rankscore=0.754;PROVEAN_pred=D;VEST3_score=0.616;VEST3_rankscore=0.749;MetaSVM_score=-0.399;MetaSVM_rankscore=0.721;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_rankscore=0.730;MetaLR_pred=T;M-CAP_score=0.102;M-CAP_rankscore=0.776;M-CAP_pred=D;REVEL_score=0.769;REVEL_rankscore=0.923;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.172;CADD_raw_rankscore=0.852;CADD_phred=28.6;DANN_score=0.994;DANN_rankscore=0.640;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.994;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.458;Eigen-PC-raw=0.496;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=7.775;phyloP100way_vertebrate_rankscore=0.841;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.855;phastCons20way_mammalian_rankscore=0.357;SiPhy_29way_logOdds=18.437;SiPhy_29way_logOdds_rankscore=0.906;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.189e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004204;Kaviar_AC=65;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.112814;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228527844 rs11588701 T G 100 PASS AC=5;AF=0.0297524;AN=214;NS=2504;DP=20033;EAS_AF=0.0536;AMR_AF=0.0216;AFR_AF=0.0325;EUR_AF=0.0278;SAS_AF=0.0092;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0297524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11588701;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.0460;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0410;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0385;ExAC_nontcga_SAS=0.0163;AF=0.0385;AF_popmax=0.0482;AF_male=0.0392;AF_female=0.0377;AF_raw=0.0385;AF_afr=0.0482;AF_sas=.;AF_amr=0.0212;AF_eas=0.0397;AF_nfe=0.0358;AF_fin=0.0323;AF_asj=0.0448;AF_oth=0.0313;non_topmed_AF_popmax=0.0480;non_neuro_AF_popmax=0.0519;non_cancer_AF_popmax=.;controls_AF_popmax=0.0534;Kaviar_AF=0.0286607;Kaviar_AC=4431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228528412 rs1150916 G A 100 PASS AC=86;AF=0.351837;AN=214;NS=2504;DP=16211;EAS_AF=0.252;AMR_AF=0.3847;AFR_AF=0.4561;EUR_AF=0.4215;SAS_AF=0.2188;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.351837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1150916;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4247;ExAC_nontcga_ALL=0.3871;ExAC_nontcga_AFR=0.4262;ExAC_nontcga_AMR=0.3297;ExAC_nontcga_EAS=0.2252;ExAC_nontcga_FIN=0.4811;ExAC_nontcga_NFE=0.4378;ExAC_nontcga_OTH=0.3665;ExAC_nontcga_SAS=0.2755;AF=0.4206;AF_popmax=0.4467;AF_male=0.4199;AF_female=0.4215;AF_raw=0.4209;AF_afr=0.4068;AF_sas=.;AF_amr=0.3608;AF_eas=0.2044;AF_nfe=0.4467;AF_fin=0.4603;AF_asj=0.3483;AF_oth=0.4107;non_topmed_AF_popmax=0.4457;non_neuro_AF_popmax=0.4470;non_cancer_AF_popmax=.;controls_AF_popmax=0.4549;Kaviar_AF=0.371625;Kaviar_AC=57454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 1|1 1|0 0|0 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|0 +1 228528563 rs1188710 C G 100 PASS AC=103;AF=0.538738;AN=214;NS=2504;DP=14531;EAS_AF=0.5942;AMR_AF=0.4654;AFR_AF=0.6679;EUR_AF=0.5229;SAS_AF=0.3753;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;1000g2015aug_all=0.538738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1188710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.439;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_converted_rankscore=0.105;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_converted_rankscore=0.006;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.278;MetaSVM_score=-0.947;MetaSVM_rankscore=0.416;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.194;CADD_raw_rankscore=0.113;CADD_phred=4.616;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_rankscore=0.226;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.861;Eigen-PC-raw=-0.576;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.573;integrated_confidence_value=0;GERP++_RS=4.12;GERP++_RS_rankscore=0.473;phyloP100way_vertebrate=4.836;phyloP100way_vertebrate_rankscore=0.622;phyloP20way_mammalian=-0.274;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.593;phastCons20way_mammalian_rankscore=0.287;SiPhy_29way_logOdds=14.134;SiPhy_29way_logOdds_rankscore=0.647;Interpro_domain=PH_domain-like;GTEx_V6p_gene=ENSG00000168118.7;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5203;ExAC_nontcga_ALL=0.5450;ExAC_nontcga_AFR=0.6421;ExAC_nontcga_AMR=0.4792;ExAC_nontcga_EAS=0.6045;ExAC_nontcga_FIN=0.6691;ExAC_nontcga_NFE=0.5592;ExAC_nontcga_OTH=0.5217;ExAC_nontcga_SAS=0.4373;AF=0.5696;AF_popmax=0.6002;AF_male=0.5695;AF_female=0.5698;AF_raw=0.5695;AF_afr=0.6002;AF_sas=.;AF_amr=0.4550;AF_eas=0.5677;AF_nfe=0.5462;AF_fin=0.6416;AF_asj=0.4655;AF_oth=0.5470;non_topmed_AF_popmax=0.6003;non_neuro_AF_popmax=0.6132;non_cancer_AF_popmax=.;controls_AF_popmax=0.6146;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.313182;ALLELE_END;VINYL_score=3.5 GT 1|1 0|0 0|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|1 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|1 1|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|1 1|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 1|1 0|0 +1 228528752 rs368279229 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13484;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368279229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0039;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.071e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0032;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0032;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228529129 rs3795810 C A 100 PASS AC=17;AF=0.138179;AN=214;NS=2504;DP=14549;EAS_AF=0.3284;AMR_AF=0.072;AFR_AF=0.0446;EUR_AF=0.1034;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.138179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795810;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.0945;ExAC_nontcga_ALL=0.1419;ExAC_nontcga_AFR=0.0623;ExAC_nontcga_AMR=0.1121;ExAC_nontcga_EAS=0.3599;ExAC_nontcga_FIN=0.2224;ExAC_nontcga_NFE=0.1113;ExAC_nontcga_OTH=0.1446;ExAC_nontcga_SAS=0.1642;AF=0.1139;AF_popmax=0.3450;AF_male=0.1118;AF_female=0.1165;AF_raw=0.1142;AF_afr=0.0554;AF_sas=.;AF_amr=0.0816;AF_eas=0.3450;AF_nfe=0.1048;AF_fin=0.1991;AF_asj=0.1;AF_oth=0.1384;non_topmed_AF_popmax=0.3411;non_neuro_AF_popmax=0.3450;non_cancer_AF_popmax=.;controls_AF_popmax=0.3455;Kaviar_AF=0.118776;Kaviar_AC=18363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021290|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538470 rs12031395 C G 100 PASS AC=17;AF=0.147764;AN=214;NS=2504;DP=19734;EAS_AF=0.3433;AMR_AF=0.072;AFR_AF=0.0726;EUR_AF=0.0984;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12031395;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1156;AF_popmax=0.3668;AF_male=0.1140;AF_female=0.1177;AF_raw=0.1156;AF_afr=0.0770;AF_sas=.;AF_amr=0.0814;AF_eas=0.3668;AF_nfe=0.0982;AF_fin=0.1813;AF_asj=0.1;AF_oth=0.1333;non_topmed_AF_popmax=0.3635;non_neuro_AF_popmax=0.3668;non_cancer_AF_popmax=.;controls_AF_popmax=0.3725;Kaviar_AF=0.0207177;Kaviar_AC=3203;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538568 rs142615706 C G 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17964;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.C18343G:p.R6115G,OBSCN:NM_052843:exon77:c.C18343G:p.R6115G,OBSCN:NM_001271223:exon88:c.C21214G:p.R7072G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142615706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.457;MutationTaster_pred=D;MutationAssessor_score=1.36;MutationAssessor_score_rankscore=0.342;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-4.27;PROVEAN_converted_rankscore=0.796;PROVEAN_pred=D;VEST3_score=0.516;VEST3_rankscore=0.646;MetaSVM_score=-0.381;MetaSVM_rankscore=0.726;MetaSVM_pred=T;MetaLR_score=0.317;MetaLR_rankscore=0.687;MetaLR_pred=T;M-CAP_score=0.075;M-CAP_rankscore=0.724;M-CAP_pred=D;REVEL_score=0.326;REVEL_rankscore=0.652;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.894;CADD_raw_rankscore=0.808;CADD_phred=27.4;DANN_score=0.983;DANN_rankscore=0.398;fathmm-MKL_coding_score=0.901;fathmm-MKL_coding_rankscore=0.507;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.470;Eigen-PC-raw=0.435;GenoCanyon_score=0.052;GenoCanyon_score_rankscore=0.149;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=3.086;phyloP100way_vertebrate_rankscore=0.496;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.870;phastCons20way_mammalian_rankscore=0.364;SiPhy_29way_logOdds=14.303;SiPhy_29way_logOdds_rankscore=0.658;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0060;ExAC_nontcga_SAS=0;AF=0.0017;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0017;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228538635 rs140996408 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15519;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon77:c.C18410T:p.P6137L,OBSCN:NM_052843:exon77:c.C18410T:p.P6137L,OBSCN:NM_001271223:exon88:c.C21281T:p.P7094L;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140996408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.975;MutationAssessor_score_rankscore=0.857;MutationAssessor_pred=M;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.713;FATHMM_pred=T;PROVEAN_score=-7.31;PROVEAN_converted_rankscore=0.957;PROVEAN_pred=D;VEST3_score=0.58;VEST3_rankscore=0.708;MetaSVM_score=0.264;MetaSVM_rankscore=0.870;MetaSVM_pred=D;MetaLR_score=0.543;MetaLR_rankscore=0.832;MetaLR_pred=D;M-CAP_score=0.195;M-CAP_rankscore=0.864;M-CAP_pred=D;REVEL_score=0.638;REVEL_rankscore=0.864;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.415;CADD_raw_rankscore=0.886;CADD_phred=29.7;DANN_score=0.994;DANN_rankscore=0.643;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.795;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.730;Eigen-PC-raw=0.617;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=7.249;phyloP100way_vertebrate_rankscore=0.775;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=19.553;SiPhy_29way_logOdds_rankscore=0.953;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0005;AF_popmax=0.0009;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228538968 rs3795811 C T 100 PASS AC=24;AF=0.139577;AN=214;NS=2504;DP=17414;EAS_AF=0.3125;AMR_AF=0.0533;AFR_AF=0.0507;EUR_AF=0.1342;SAS_AF=0.1483;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795811;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1335;AF_popmax=0.3217;AF_male=0.1310;AF_female=0.1367;AF_raw=0.1338;AF_afr=0.0632;AF_sas=.;AF_amr=0.0496;AF_eas=0.3217;AF_nfe=0.1351;AF_fin=0.2334;AF_asj=0.1069;AF_oth=0.1577;non_topmed_AF_popmax=0.3173;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3235;Kaviar_AF=0.0215456;Kaviar_AC=3331;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228538982 rs187504490 G T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=16568;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187504490;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0046;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0036;AF_popmax=0.0118;AF_male=0.0037;AF_female=0.0036;AF_raw=0.0036;AF_afr=0.0018;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0012;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0029366;Kaviar_AC=454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228539034 rs56187628 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17311;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon78:c.C18432T:p.D6144D,OBSCN:NM_052843:exon78:c.C18432T:p.D6144D,OBSCN:NM_001271223:exon89:c.C21303T:p.D7101D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56187628;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0001;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228543800 rs3795814 C T 100 PASS AC=17;AF=0.172125;AN=214;NS=2504;DP=20933;EAS_AF=0.3284;AMR_AF=0.0778;AFR_AF=0.1717;EUR_AF=0.1004;SAS_AF=0.1524;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.172125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3795814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0899;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1369;AF_popmax=0.3456;AF_male=0.1376;AF_female=0.1361;AF_raw=0.1370;AF_afr=0.1562;AF_sas=.;AF_amr=0.0908;AF_eas=0.3456;AF_nfe=0.0985;AF_fin=0.1793;AF_asj=0.1172;AF_oth=0.1333;non_topmed_AF_popmax=0.3426;non_neuro_AF_popmax=0.3456;non_cancer_AF_popmax=.;controls_AF_popmax=0.3446;Kaviar_AF=0.0224577;Kaviar_AC=3472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228547256 rs12027720 G A 100 PASS AC=17;AF=0.147564;AN=214;NS=2504;DP=17098;EAS_AF=0.3284;AMR_AF=0.0764;AFR_AF=0.0825;EUR_AF=0.0984;SAS_AF=0.1503;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147564;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12027720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0836;ExAC_nontcga_ALL=0.1734;ExAC_nontcga_AFR=0.1355;ExAC_nontcga_AMR=0.1533;ExAC_nontcga_EAS=0.4312;ExAC_nontcga_FIN=0.2514;ExAC_nontcga_NFE=0.1400;ExAC_nontcga_OTH=0.1757;ExAC_nontcga_SAS=0.2063;AF=0.1179;AF_popmax=0.3452;AF_male=0.1168;AF_female=0.1193;AF_raw=0.1180;AF_afr=0.0915;AF_sas=.;AF_amr=0.0837;AF_eas=0.3452;AF_nfe=0.0974;AF_fin=0.1791;AF_asj=0.1007;AF_oth=0.1324;non_topmed_AF_popmax=0.3413;non_neuro_AF_popmax=0.3452;non_cancer_AF_popmax=.;controls_AF_popmax=0.3443;Kaviar_AF=0.0848954;Kaviar_AC=13125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228547769 rs151322036 C T 100 PASS AC=3;AF=0.00479233;AN=214;NS=2504;DP=17499;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.0082;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19176T:p.V6392V;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151322036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0106;ExAC_nontcga_ALL=0.0137;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0547;ExAC_nontcga_NFE=0.0182;ExAC_nontcga_OTH=0.0208;ExAC_nontcga_SAS=0.0068;AF=0.0085;AF_popmax=0.0110;AF_male=0.0085;AF_female=0.0086;AF_raw=0.0085;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0205;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0084;Kaviar_AF=0.0066623;Kaviar_AC=1030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228547901 rs12035900 C T 100 PASS AC=82;AF=0.298722;AN=214;NS=2504;DP=18726;EAS_AF=0.2669;AMR_AF=0.3112;AFR_AF=0.1142;EUR_AF=0.328;SAS_AF=0.5419;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;1000g2015aug_all=0.298722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12035900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3011;ExAC_nontcga_ALL=0.3143;ExAC_nontcga_AFR=0.1602;ExAC_nontcga_AMR=0.3208;ExAC_nontcga_EAS=0.2874;ExAC_nontcga_FIN=0.2343;ExAC_nontcga_NFE=0.2952;ExAC_nontcga_OTH=0.3506;ExAC_nontcga_SAS=0.4936;AF=0.2458;AF_popmax=0.3161;AF_male=0.2465;AF_female=0.2449;AF_raw=0.2463;AF_afr=0.1592;AF_sas=.;AF_amr=0.2866;AF_eas=0.3161;AF_nfe=0.2856;AF_fin=0.2228;AF_asj=0.3310;AF_oth=0.2930;non_topmed_AF_popmax=0.3168;non_neuro_AF_popmax=0.3161;non_cancer_AF_popmax=.;controls_AF_popmax=0.3374;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 1|1 0|1 0|1 1|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 +1 228548029 rs558751535 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18912;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19436A:p.T6479N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558751535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.368;Polyphen2_HDIV_rankscore=0.323;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.234;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.910;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.717;FATHMM_pred=T;PROVEAN_score=-1.93;PROVEAN_converted_rankscore=0.448;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.518;MetaSVM_rankscore=0.680;MetaSVM_pred=T;MetaLR_score=0.307;MetaLR_rankscore=0.678;MetaLR_pred=T;M-CAP_score=0.039;M-CAP_rankscore=0.588;M-CAP_pred=D;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=0.23;MutPred_rankscore=0.158;CADD_raw=2.012;CADD_raw_rankscore=0.303;CADD_phred=16.29;DANN_score=0.989;DANN_rankscore=0.481;fathmm-MKL_coding_score=0.921;fathmm-MKL_coding_rankscore=0.546;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.063;Eigen-PC-raw=0.098;GenoCanyon_score=0.954;GenoCanyon_score_rankscore=0.280;integrated_fitCons_score=0.696;integrated_fitCons_score_rankscore=0.567;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=4.474;phyloP100way_vertebrate_rankscore=0.597;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.626;phastCons20way_mammalian_rankscore=0.294;SiPhy_29way_logOdds=8.897;SiPhy_29way_logOdds_rankscore=0.344;Interpro_domain=Protein_kinase_domain|Protein_kinase,_ATP_binding_site|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.536e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548094 rs557151650 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17170;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19501G:p.Q6501E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557151650;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.962;Polyphen2_HVAR_rankscore=0.690;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.171;VEST3_rankscore=0.275;MetaSVM_score=0.027;MetaSVM_rankscore=0.828;MetaSVM_pred=D;MetaLR_score=0.503;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.060;M-CAP_rankscore=0.679;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=0.304;MutPred_rankscore=0.274;CADD_raw=2.418;CADD_raw_rankscore=0.352;CADD_phred=18.93;DANN_score=0.996;DANN_rankscore=0.758;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.695;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.689;Eigen-PC-raw=0.640;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=4.75;GERP++_RS_rankscore=0.598;phyloP100way_vertebrate=7.451;phyloP100way_vertebrate_rankscore=0.796;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=17.934;SiPhy_29way_logOdds_rankscore=0.889;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.615e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.873e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548129 rs542503422 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16663;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.T19536C:p.P6512P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542503422;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548197 rs10158354 G A 100 PASS AC=17;AF=0.147764;AN=214;NS=2504;DP=17345;EAS_AF=0.3284;AMR_AF=0.0764;AFR_AF=0.0832;EUR_AF=0.0984;SAS_AF=0.1503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19604A:p.R6535H;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10158354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.186;SIFT_converted_rankscore=0.214;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.44;FATHMM_converted_rankscore=0.566;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.003;MetaSVM_score=-0.996;MetaSVM_rankscore=0.310;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.089;CADD_raw_rankscore=0.085;CADD_phred=1.814;DANN_score=0.881;DANN_rankscore=0.171;fathmm-MKL_coding_score=0.025;fathmm-MKL_coding_rankscore=0.069;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.492;Eigen-PC-raw=-1.599;GenoCanyon_score=0.914;GenoCanyon_score_rankscore=0.264;integrated_fitCons_score=0.718;integrated_fitCons_score_rankscore=0.821;integrated_confidence_value=0;GERP++_RS=-5.62;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-1.001;phyloP100way_vertebrate_rankscore=0.038;phyloP20way_mammalian=-0.065;phyloP20way_mammalian_rankscore=0.121;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.825;SiPhy_29way_logOdds_rankscore=0.177;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0857;ExAC_nontcga_ALL=0.1334;ExAC_nontcga_AFR=0.1008;ExAC_nontcga_AMR=0.1042;ExAC_nontcga_EAS=0.3571;ExAC_nontcga_FIN=0.1943;ExAC_nontcga_NFE=0.1004;ExAC_nontcga_OTH=0.1320;ExAC_nontcga_SAS=0.1487;AF=0.1175;AF_popmax=0.3445;AF_male=0.1165;AF_female=0.1187;AF_raw=0.1181;AF_afr=0.0906;AF_sas=.;AF_amr=0.0849;AF_eas=0.3445;AF_nfe=0.0970;AF_fin=0.1788;AF_asj=0.1;AF_oth=0.1331;non_topmed_AF_popmax=0.3406;non_neuro_AF_popmax=0.3445;non_cancer_AF_popmax=.;controls_AF_popmax=0.3454;Kaviar_AF=0.114714;Kaviar_AC=17735;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228548257 rs534546721 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18913;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19664C:p.R6555P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534546721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.222;SIFT_converted_rankscore=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-0.38;PROVEAN_converted_rankscore=0.134;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.044;MetaSVM_score=-1.026;MetaSVM_rankscore=0.218;MetaSVM_pred=T;MetaLR_score=0.098;MetaLR_rankscore=0.367;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.429;M-CAP_pred=T;REVEL_score=0.034;REVEL_rankscore=0.087;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.317;CADD_raw_rankscore=0.067;CADD_phred=0.607;DANN_score=0.664;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.432;Eigen-PC-raw=-1.524;GenoCanyon_score=0.196;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-4.32;GERP++_RS_rankscore=0.034;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=-1.054;phyloP20way_mammalian_rankscore=0.020;phastCons100way_vertebrate=0.035;phastCons100way_vertebrate_rankscore=0.205;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=6.106;SiPhy_29way_logOdds_rankscore=0.192;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228548360 rs141233508 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=19174;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19767A:p.E6589E;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141233508;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0053;ExAC_nontcga_SAS=0;AF=0.0035;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0033;AF_raw=0.0035;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0032212;Kaviar_AC=498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228550344 rs200257210 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14939;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.G18729A:p.A6243A,OBSCN:NM_001271223:exon91:c.G21600A:p.A7200A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200257210;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228550426 rs35155240 C T 100 PASS AC=17;AF=0.146965;AN=214;NS=2504;DP=14923;EAS_AF=0.3264;AMR_AF=0.0764;AFR_AF=0.0825;EUR_AF=0.0984;SAS_AF=0.1493;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18811T:p.P6271S,OBSCN:NM_001271223:exon91:c.C21682T:p.P7228S;1000g2015aug_all=0.146965;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35155240;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.687;SIFT_converted_rankscore=0.043;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.04;FATHMM_converted_rankscore=0.621;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_converted_rankscore=0.275;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.298;MetaSVM_score=-1.002;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.124;CADD_raw_rankscore=0.082;CADD_phred=1.559;DANN_score=0.501;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.075;fathmm-MKL_coding_rankscore=0.133;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.425;Eigen-PC-raw=-1.483;GenoCanyon_score=0.177;GenoCanyon_score_rankscore=0.178;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-3.86;GERP++_RS_rankscore=0.039;phyloP100way_vertebrate=-0.010;phyloP100way_vertebrate_rankscore=0.126;phyloP20way_mammalian=-0.404;phyloP20way_mammalian_rankscore=0.062;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.743;SiPhy_29way_logOdds_rankscore=0.049;Interpro_domain=.;GTEx_V6p_gene=ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0834;ExAC_nontcga_ALL=0.1752;ExAC_nontcga_AFR=0.1304;ExAC_nontcga_AMR=0.1523;ExAC_nontcga_EAS=0.4052;ExAC_nontcga_FIN=0.2670;ExAC_nontcga_NFE=0.1424;ExAC_nontcga_OTH=0.1636;ExAC_nontcga_SAS=0.1683;AF=0.1177;AF_popmax=0.3460;AF_male=0.1168;AF_female=0.1188;AF_raw=0.1180;AF_afr=0.0908;AF_sas=.;AF_amr=0.0837;AF_eas=0.3460;AF_nfe=0.0970;AF_fin=0.1799;AF_asj=0.0972;AF_oth=0.1327;non_topmed_AF_popmax=0.3421;non_neuro_AF_popmax=0.3460;non_cancer_AF_popmax=.;controls_AF_popmax=0.3476;Kaviar_AF=0.1054;Kaviar_AC=16295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228550429 rs11585049 C T 100 PASS AC=5;AF=0.0443291;AN=214;NS=2504;DP=14995;EAS_AF=0.0952;AMR_AF=0.0591;AFR_AF=0.0325;EUR_AF=0.0278;SAS_AF=0.0143;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18814T:p.P6272S,OBSCN:NM_001271223:exon91:c.C21685T:p.P7229S;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11585049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.253;SIFT_converted_rankscore=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_converted_rankscore=0.340;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.266;MetaSVM_score=-1.104;MetaSVM_rankscore=0.036;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.081;REVEL_rankscore=0.241;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.627;CADD_raw_rankscore=0.154;CADD_phred=8.342;DANN_score=0.336;DANN_rankscore=0.020;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_rankscore=0.166;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.120;Eigen-PC-raw=-1.141;GenoCanyon_score=0.047;GenoCanyon_score_rankscore=0.147;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.05;GERP++_RS_rankscore=0.192;phyloP100way_vertebrate=0.816;phyloP100way_vertebrate_rankscore=0.267;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=5.236;SiPhy_29way_logOdds_rankscore=0.147;Interpro_domain=.;GTEx_V6p_gene=ENSG00000143774.12|ENSG00000162913.9;GTEx_V6p_tissue=Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0362;ExAC_nontcga_ALL=0.0598;ExAC_nontcga_AFR=0.0634;ExAC_nontcga_AMR=0.1018;ExAC_nontcga_EAS=0.1297;ExAC_nontcga_FIN=0.0444;ExAC_nontcga_NFE=0.0643;ExAC_nontcga_OTH=0.0642;ExAC_nontcga_SAS=0.0194;AF=0.0418;AF_popmax=0.0738;AF_male=0.0430;AF_female=0.0402;AF_raw=0.0418;AF_afr=0.0485;AF_sas=.;AF_amr=0.0660;AF_eas=0.0738;AF_nfe=0.0359;AF_fin=0.0325;AF_asj=0.0448;AF_oth=0.0341;non_topmed_AF_popmax=0.075;non_neuro_AF_popmax=0.0740;non_cancer_AF_popmax=.;controls_AF_popmax=0.0830;Kaviar_AF=0.0342557;Kaviar_AC=5296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 228552618 rs563857360 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16786;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563857360;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228554767 rs549279803 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17890;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon86:c.G19519A:p.A6507T,OBSCN:NM_001271223:exon97:c.G22390A:p.A7464T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549279803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.388;SIFT_converted_rankscore=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.127;Polyphen2_HVAR_pred=B;LRT_score=0.314;LRT_converted_rankscore=0.144;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.105;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.239;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.345;M-CAP_pred=T;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=0.248;MutPred_rankscore=0.185;CADD_raw=1.354;CADD_raw_rankscore=0.226;CADD_phred=12.55;DANN_score=0.924;DANN_rankscore=0.212;fathmm-MKL_coding_score=0.104;fathmm-MKL_coding_rankscore=0.158;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.552;Eigen-PC-raw=-0.629;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=0.492;GERP++_RS_rankscore=0.160;phyloP100way_vertebrate=0.301;phyloP100way_vertebrate_rankscore=0.188;phyloP20way_mammalian=-0.272;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.117;phastCons100way_vertebrate_rankscore=0.229;phastCons20way_mammalian=0.231;phastCons20way_mammalian_rankscore=0.224;SiPhy_29way_logOdds=1.075;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.581e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.06e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228556014 rs374292331 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=17017;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374292331;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0059;AF=0.0007;AF_popmax=0.0047;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1721719|N/A|HNF4A|PAZAR,OREG1745725|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228556403 rs35711644 C T 100 PASS AC=17;AF=0.125599;AN=214;NS=2504;DP=17831;EAS_AF=0.3075;AMR_AF=0.0389;AFR_AF=0.0371;EUR_AF=0.0994;SAS_AF=0.1462;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.125599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35711644;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0859;ExAC_nontcga_ALL=0.1151;ExAC_nontcga_AFR=0.0474;ExAC_nontcga_AMR=0.0330;ExAC_nontcga_EAS=0.3302;ExAC_nontcga_FIN=0.1956;ExAC_nontcga_NFE=0.0951;ExAC_nontcga_OTH=0.1268;ExAC_nontcga_SAS=0.1376;AF=0.1037;AF_popmax=0.3176;AF_male=0.1012;AF_female=0.1067;AF_raw=0.1042;AF_afr=0.0450;AF_sas=.;AF_amr=0.0401;AF_eas=0.3176;AF_nfe=0.0975;AF_fin=0.1908;AF_asj=0.1;AF_oth=0.1278;non_topmed_AF_popmax=0.3139;non_neuro_AF_popmax=0.3176;non_cancer_AF_popmax=.;controls_AF_popmax=0.3216;Kaviar_AF=0.106493;Kaviar_AC=16464;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228556788 rs3738685 C T 100 PASS AC=83;AF=0.320487;AN=214;NS=2504;DP=18723;EAS_AF=0.251;AMR_AF=0.3141;AFR_AF=0.1838;EUR_AF=0.3628;SAS_AF=0.5378;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.320487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738685;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3585;ExAC_nontcga_ALL=0.3836;ExAC_nontcga_AFR=0.2457;ExAC_nontcga_AMR=0.3050;ExAC_nontcga_EAS=0.3075;ExAC_nontcga_FIN=0.3070;ExAC_nontcga_NFE=0.3907;ExAC_nontcga_OTH=0.4074;ExAC_nontcga_SAS=0.5110;AF=0.3103;AF_popmax=0.3617;AF_male=0.3096;AF_female=0.3110;AF_raw=0.3105;AF_afr=0.2313;AF_sas=.;AF_amr=0.2766;AF_eas=0.2957;AF_nfe=0.3617;AF_fin=0.2804;AF_asj=0.3655;AF_oth=0.3420;non_topmed_AF_popmax=0.3586;non_neuro_AF_popmax=0.3634;non_cancer_AF_popmax=.;controls_AF_popmax=0.3497;Kaviar_AF=0.326147;Kaviar_AC=50423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 1|1 1|1 1|1 0|0 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|1 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 +1 228556986 rs184946932 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19372;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184946932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0009989;Kaviar_AC=26;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1622171|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228557755 rs145597580 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19459;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20080A:p.A6694T,OBSCN:NM_001271223:exon102:c.G22951A:p.A7651T;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145597580;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_rankscore=0.643;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.412;MutationTaster_pred=D;MutationAssessor_score=2.265;MutationAssessor_score_rankscore=0.646;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.12;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.241;VEST3_rankscore=0.552;MetaSVM_score=-0.167;MetaSVM_rankscore=0.785;MetaSVM_pred=T;MetaLR_score=0.357;MetaLR_rankscore=0.719;MetaLR_pred=T;M-CAP_score=0.071;M-CAP_rankscore=0.712;M-CAP_pred=D;REVEL_score=0.540;REVEL_rankscore=0.810;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.942;CADD_raw_rankscore=0.816;CADD_phred=27.6;DANN_score=0.818;DANN_rankscore=0.134;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.751;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.346;Eigen-PC-raw=0.315;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=7.368;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.295;phastCons20way_mammalian_rankscore=0.236;SiPhy_29way_logOdds=16.025;SiPhy_29way_logOdds_rankscore=0.802;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0038;AF=0.0022;AF_popmax=0.0027;AF_male=0.0018;AF_female=0.0026;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0046;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0028;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938301|Enhancer,ENSR00000938274|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228557980 rs188256711 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=18964;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0023;EUR_AF=0.004;SAS_AF=0.002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188256711;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=0.0012;AF_popmax=0.0021;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0021;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558307 rs543107416 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543107416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558389 rs528325731 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon93:c.C20176T:p.P6726S,OBSCN:NM_001271223:exon104:c.C23047T:p.P7683S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528325731;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.565;MutationTaster_converted_rankscore=0.322;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_score_rankscore=0.583;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.715;PROVEAN_pred=D;VEST3_score=0.24;VEST3_rankscore=0.423;MetaSVM_score=-0.798;MetaSVM_rankscore=0.553;MetaSVM_pred=T;MetaLR_score=0.216;MetaLR_rankscore=0.578;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.622;M-CAP_pred=D;REVEL_score=0.175;REVEL_rankscore=0.447;MutPred_score=0.264;MutPred_rankscore=0.210;CADD_raw=4.526;CADD_raw_rankscore=0.606;CADD_phred=24.3;DANN_score=0.837;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.530;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.416;Eigen-PC-raw=0.354;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.622;integrated_fitCons_score_rankscore=0.393;integrated_confidence_value=0;GERP++_RS=4.9;GERP++_RS_rankscore=0.635;phyloP100way_vertebrate=3.861;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.032;phastCons20way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=16.798;SiPhy_29way_logOdds_rankscore=0.854;Interpro_domain=Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558817 rs143809856 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15108;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20338T:p.R6780W,OBSCN:NM_001271223:exon105:c.C23209T:p.R7737W;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143809856;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.976;Polyphen2_HVAR_rankscore=0.719;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.682;MutationTaster_converted_rankscore=0.302;MutationTaster_pred=N;MutationAssessor_score=2.095;MutationAssessor_score_rankscore=0.583;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-4.72;PROVEAN_converted_rankscore=0.800;PROVEAN_pred=D;VEST3_score=0.459;VEST3_rankscore=0.521;MetaSVM_score=-0.291;MetaSVM_rankscore=0.753;MetaSVM_pred=T;MetaLR_score=0.386;MetaLR_rankscore=0.742;MetaLR_pred=T;M-CAP_score=0.296;M-CAP_rankscore=0.907;M-CAP_pred=D;REVEL_score=0.285;REVEL_rankscore=0.608;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.323;CADD_raw_rankscore=0.873;CADD_phred=29.2;DANN_score=0.988;DANN_rankscore=0.455;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.566;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.189;Eigen-PC-raw=0.083;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.84;GERP++_RS_rankscore=0.321;phyloP100way_vertebrate=0.809;phyloP100way_vertebrate_rankscore=0.266;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.199;phastCons20way_mammalian_rankscore=0.217;SiPhy_29way_logOdds=13.053;SiPhy_29way_logOdds_rankscore=0.582;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.584e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.859e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=9.574e-05;AF_popmax=0.0013;AF_male=0.0001;AF_female=7.193e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558892 rs35186354 C T 100 PASS AC=12;AF=0.033746;AN=214;NS=2504;DP=13905;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0061;EUR_AF=0.0686;SAS_AF=0.0757;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20413T:p.R6805W,OBSCN:NM_001271223:exon105:c.C23284T:p.R7762W;1000g2015aug_all=0.033746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35186354;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.913;Polyphen2_HVAR_rankscore=0.631;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=N;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_converted_rankscore=0.629;PROVEAN_pred=D;VEST3_score=0.271;VEST3_rankscore=0.405;MetaSVM_score=-0.953;MetaSVM_rankscore=0.405;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.202;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.144;REVEL_rankscore=0.389;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.518;CADD_raw_rankscore=0.898;CADD_phred=31;DANN_score=0.991;DANN_rankscore=0.520;fathmm-MKL_coding_score=0.310;fathmm-MKL_coding_rankscore=0.240;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.076;Eigen-PC-raw=-0.212;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=1.42;GERP++_RS_rankscore=0.214;phyloP100way_vertebrate=-0.207;phyloP100way_vertebrate_rankscore=0.093;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.810;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=10.441;SiPhy_29way_logOdds_rankscore=0.435;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0650;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0122;ExAC_nontcga_AMR=0.0287;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.1207;ExAC_nontcga_NFE=0.0770;ExAC_nontcga_OTH=0.1007;ExAC_nontcga_SAS=0.0852;AF=0.0541;AF_popmax=0.0722;AF_male=0.0512;AF_female=0.0577;AF_raw=0.0543;AF_afr=0.0114;AF_sas=.;AF_amr=0.0236;AF_eas=0.0006;AF_nfe=0.0722;AF_fin=0.1021;AF_asj=0.0759;AF_oth=0.0809;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0723;non_cancer_AF_popmax=.;controls_AF_popmax=0.0836;Kaviar_AF=0.0549087;Kaviar_AC=8489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228558952 rs113876855 T G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=11921;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T20473G:p.F6825V,OBSCN:NM_001271223:exon105:c.T23344G:p.F7782V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113876855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.483;Polyphen2_HDIV_rankscore=0.349;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.084;Polyphen2_HVAR_rankscore=0.277;Polyphen2_HVAR_pred=B;LRT_score=0.815;LRT_converted_rankscore=0.092;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=N;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.372;PROVEAN_pred=N;VEST3_score=0.195;VEST3_rankscore=0.384;MetaSVM_score=-1.030;MetaSVM_rankscore=0.204;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_rankscore=0.271;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.292;CADD_raw_rankscore=0.337;CADD_phred=18.11;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_rankscore=0.286;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.036;Eigen-PC-raw=-0.010;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.41;GERP++_RS_rankscore=0.380;phyloP100way_vertebrate=1.749;phyloP100way_vertebrate_rankscore=0.377;phyloP20way_mammalian=0.931;phyloP20way_mammalian_rankscore=0.441;phastCons100way_vertebrate=0.988;phastCons100way_vertebrate_rankscore=0.363;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=3.620;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0318;ExAC_nontcga_NFE=0.0163;ExAC_nontcga_OTH=0.0199;ExAC_nontcga_SAS=0.0007;AF=0.0099;AF_popmax=0.0123;AF_male=0.0096;AF_female=0.0103;AF_raw=0.0100;AF_afr=0.0021;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0236;AF_asj=0.0069;AF_oth=0.0147;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0180;Kaviar_AF=0.0063324;Kaviar_AC=979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.025643;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228558992 rs536227878 CCA C 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=11512;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon94:c.20514_20515del:p.A6838fs,OBSCN:NM_001271223:exon105:c.23385_23386del:p.A7795fs;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536227878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.005;ExAC_nontcga_SAS=0.0006;AF=0.0058;AF_popmax=0.0088;AF_male=0.0056;AF_female=0.0060;AF_raw=0.0058;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0088;AF_fin=0.0101;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0153;Kaviar_AF=0.0022768;Kaviar_AC=352;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 228559008 rs181852000 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=10882;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20529T:p.T6843T,OBSCN:NM_001271223:exon105:c.C23400T:p.T7800T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181852000;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.196e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.203e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559430 rs41305136 G A 100 PASS AC=7;AF=0.0217652;AN=214;NS=2504;DP=12177;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0685;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20951A:p.R6984Q,OBSCN:NM_001271223:exon105:c.G23822A:p.R7941Q;1000g2015aug_all=0.0217652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.42;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_converted_rankscore=0.129;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.310;MetaSVM_score=-1.057;MetaSVM_rankscore=0.125;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.121;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.220;CADD_raw_rankscore=0.074;CADD_phred=0.997;DANN_score=0.532;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_rankscore=0.095;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.920;Eigen-PC-raw=-1.912;GenoCanyon_score=0.789;GenoCanyon_score_rankscore=0.240;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-3.53;GERP++_RS_rankscore=0.043;phyloP100way_vertebrate=-0.947;phyloP100way_vertebrate_rankscore=0.040;phyloP20way_mammalian=-0.971;phyloP20way_mammalian_rankscore=0.023;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.442;SiPhy_29way_logOdds_rankscore=0.042;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0309;ExAC_nontcga_ALL=0.0320;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0.0445;ExAC_nontcga_SAS=0.0760;AF=0.0250;AF_popmax=0.0376;AF_male=0.0236;AF_female=0.0267;AF_raw=0.0251;AF_afr=0.0052;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0376;AF_fin=0.0282;AF_asj=0.0138;AF_oth=0.0409;non_topmed_AF_popmax=0.0400;non_neuro_AF_popmax=0.0378;non_cancer_AF_popmax=.;controls_AF_popmax=0.0425;Kaviar_AF=0.0289453;Kaviar_AC=4475;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559450 rs186870748 G A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=12727;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20971A:p.G6991R,OBSCN:NM_001271223:exon105:c.G23842A:p.G7948R;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186870748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.345;SIFT_converted_rankscore=0.125;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=0.16;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_converted_rankscore=0.206;PROVEAN_pred=N;VEST3_score=0.074;VEST3_rankscore=0.283;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.143;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.731;CADD_raw_rankscore=0.043;CADD_phred=0.061;DANN_score=0.500;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.110;fathmm-MKL_coding_rankscore=0.162;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.241;Eigen-PC-raw=-1.342;GenoCanyon_score=0.428;GenoCanyon_score_rankscore=0.203;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=-0.051;GERP++_RS_rankscore=0.131;phyloP100way_vertebrate=-0.188;phyloP100way_vertebrate_rankscore=0.096;phyloP20way_mammalian=-1.732;phyloP20way_mammalian_rankscore=0.007;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.841;SiPhy_29way_logOdds_rankscore=0.051;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0018;ExAC_nontcga_SAS=0.0022;AF=0.0060;AF_popmax=0.0100;AF_male=0.0056;AF_female=0.0066;AF_raw=0.0061;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0049;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0098;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0088;Kaviar_AF=0.0061901;Kaviar_AC=957;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559654 rs111616349 G A 100 PASS AC=5;AF=0.00499201;AN=214;NS=2504;DP=15434;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21175A:p.G7059S,OBSCN:NM_001271223:exon105:c.G24046A:p.G8016S;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111616349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.244;SIFT_converted_rankscore=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.066;LRT_converted_rankscore=0.022;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.312;PROVEAN_pred=N;VEST3_score=0.096;VEST3_rankscore=0.304;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_rankscore=0.192;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.765;CADD_raw_rankscore=0.273;CADD_phred=14.78;DANN_score=0.396;DANN_rankscore=0.027;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.076;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.800;Eigen-PC-raw=-0.912;GenoCanyon_score=0.531;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.242;phyloP100way_vertebrate_rankscore=0.177;phyloP20way_mammalian=0.082;phyloP20way_mammalian_rankscore=0.190;phastCons100way_vertebrate=0.052;phastCons100way_vertebrate_rankscore=0.213;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=8.478;SiPhy_29way_logOdds_rankscore=0.320;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0152;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0153;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0047;AF=0.0079;AF_popmax=0.0118;AF_male=0.0072;AF_female=0.0088;AF_raw=0.0079;AF_afr=0.0020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0111;AF_fin=0.0072;AF_asj=0.0414;AF_oth=0.0120;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0138;Kaviar_AF=0.0099287;Kaviar_AC=1535;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559967 rs72762066 C T 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=17026;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21488T:p.P7163L,OBSCN:NM_001271223:exon105:c.C24359T:p.P8120L;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72762066;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.906;Polyphen2_HDIV_rankscore=0.480;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_rankscore=0.433;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=0.05;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_converted_rankscore=0.651;PROVEAN_pred=D;VEST3_score=0.152;VEST3_rankscore=0.256;MetaSVM_score=-0.820;MetaSVM_rankscore=0.540;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_rankscore=0.425;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.168;REVEL_rankscore=0.434;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.939;CADD_raw_rankscore=0.414;CADD_phred=22.0;DANN_score=0.978;DANN_rankscore=0.354;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_rankscore=0.152;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.324;Eigen-PC-raw=-0.434;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.19;GERP++_RS_rankscore=0.485;phyloP100way_vertebrate=-0.366;phyloP100way_vertebrate_rankscore=0.076;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=11.890;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0214;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0385;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0.0272;ExAC_nontcga_SAS=0.0073;AF=0.0076;AF_popmax=0.0212;AF_male=0.0083;AF_female=0.0067;AF_raw=0.0076;AF_afr=0.0017;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0023;AF_asj=0.0345;AF_oth=0.0175;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228559994 rs500049 C T 100 PASS AC=99;AF=0.589058;AN=214;NS=2504;DP=17715;EAS_AF=0.5625;AMR_AF=0.389;AFR_AF=0.708;EUR_AF=0.504;SAS_AF=0.6851;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;1000g2015aug_all=0.589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs500049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.154;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.198;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_converted_rankscore=0.629;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.265;MetaSVM_score=-0.948;MetaSVM_rankscore=0.413;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.792;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.952;DANN_rankscore=0.258;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_rankscore=0.229;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.219;Eigen-PC-raw=-1.133;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.367;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.71;GERP++_RS_rankscore=0.416;phyloP100way_vertebrate=1.536;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.857;phastCons100way_vertebrate_rankscore=0.303;phastCons20way_mammalian=0.317;phastCons20way_mammalian_rankscore=0.240;SiPhy_29way_logOdds=11.612;SiPhy_29way_logOdds_rankscore=0.501;Interpro_domain=.;GTEx_V6p_gene=ENSG00000154358.15|ENSG00000162913.9|ENSG00000162913.9|ENSG00000270104.1;GTEx_V6p_tissue=Nerve_Tibial|Pancreas|Thyroid|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5033;ExAC_nontcga_ALL=0.6266;ExAC_nontcga_AFR=0.7202;ExAC_nontcga_AMR=0.5290;ExAC_nontcga_EAS=0.6649;ExAC_nontcga_FIN=0.6214;ExAC_nontcga_NFE=0.6059;ExAC_nontcga_OTH=0.5634;ExAC_nontcga_SAS=0.6562;AF=0.5384;AF_popmax=0.6406;AF_male=0.5409;AF_female=0.5352;AF_raw=0.5384;AF_afr=0.6406;AF_sas=.;AF_amr=0.3585;AF_eas=0.5799;AF_nfe=0.5001;AF_fin=0.4882;AF_asj=0.5103;AF_oth=0.5119;non_topmed_AF_popmax=0.6402;non_neuro_AF_popmax=0.6464;non_cancer_AF_popmax=.;controls_AF_popmax=0.6431;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.163612;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 1|1 0|1 1|1 0|0 1|0 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 1|0 0|1 0|1 1|0 0|1 0|1 0|1 1|1 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 +1 228560034 rs36119328 C T 100 PASS AC=1;AF=0.013778;AN=214;NS=2504;DP=17422;EAS_AF=0.0575;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21555T:p.Y7185Y,OBSCN:NM_001271223:exon105:c.C24426T:p.Y8142Y;1000g2015aug_all=0.013778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36119328;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.1050;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0037;AF=0.0041;AF_popmax=0.0635;AF_male=0.0043;AF_female=0.0038;AF_raw=0.0041;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0635;AF_nfe=0.0008;AF_fin=0.0032;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0632;non_neuro_AF_popmax=0.0635;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0042626;Kaviar_AC=659;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228560139 rs498382 A G 100 PASS AC=187;AF=0.974241;AN=214;NS=2504;DP=15498;EAS_AF=1;AMR_AF=0.964;AFR_AF=0.9962;EUR_AF=0.9066;SAS_AF=0.9949;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;1000g2015aug_all=0.974241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs498382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9259;ExAC_nontcga_ALL=0.9532;ExAC_nontcga_AFR=0.9872;ExAC_nontcga_AMR=0.9613;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.8924;ExAC_nontcga_NFE=0.9241;ExAC_nontcga_OTH=0.9569;ExAC_nontcga_SAS=0.9881;AF=0.9416;AF_popmax=1;AF_male=0.9438;AF_female=0.9387;AF_raw=0.9413;AF_afr=0.9859;AF_sas=.;AF_amr=0.9598;AF_eas=1;AF_nfe=0.9212;AF_fin=0.8975;AF_asj=0.9236;AF_oth=0.9236;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.502104;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +1 228560251 rs565096750 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16103;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21772C:p.G7258R,OBSCN:NM_001271223:exon105:c.G24643C:p.G8215R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565096750;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-1.28;PROVEAN_converted_rankscore=0.322;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.321;MetaSVM_score=-0.990;MetaSVM_rankscore=0.327;MetaSVM_pred=T;MetaLR_score=0.042;MetaLR_rankscore=0.180;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.501;M-CAP_pred=D;REVEL_score=0.113;REVEL_rankscore=0.323;MutPred_score=0.298;MutPred_rankscore=0.264;CADD_raw=2.276;CADD_raw_rankscore=0.335;CADD_phred=18.01;DANN_score=0.606;DANN_rankscore=0.063;fathmm-MKL_coding_score=0.184;fathmm-MKL_coding_rankscore=0.201;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.588;Eigen-PC-raw=-1.698;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.701;integrated_fitCons_score_rankscore=0.575;integrated_confidence_value=0;GERP++_RS=-3.89;GERP++_RS_rankscore=0.039;phyloP100way_vertebrate=0.038;phyloP100way_vertebrate_rankscore=0.136;phyloP20way_mammalian=-1.511;phyloP20way_mammalian_rankscore=0.010;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=11.123;SiPhy_29way_logOdds_rankscore=0.473;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.832e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228560700 rs512253 T C 100 PASS AC=124;AF=0.757987;AN=214;NS=2504;DP=15865;EAS_AF=0.752;AMR_AF=0.6398;AFR_AF=0.9365;EUR_AF=0.5636;SAS_AF=0.8067;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;1000g2015aug_all=0.757987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs512253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5485;ExAC_nontcga_ALL=0.6365;ExAC_nontcga_AFR=0.8911;ExAC_nontcga_AMR=0.6767;ExAC_nontcga_EAS=0.8014;ExAC_nontcga_FIN=0.5118;ExAC_nontcga_NFE=0.5552;ExAC_nontcga_OTH=0.6421;ExAC_nontcga_SAS=0.7634;AF=0.6472;AF_popmax=0.8749;AF_male=0.6524;AF_female=0.6407;AF_raw=0.6473;AF_afr=0.8749;AF_sas=.;AF_amr=0.6359;AF_eas=0.8130;AF_nfe=0.5373;AF_fin=0.5095;AF_asj=0.6552;AF_oth=0.5891;non_topmed_AF_popmax=0.8748;non_neuro_AF_popmax=0.8806;non_cancer_AF_popmax=.;controls_AF_popmax=0.8781;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|1 1|0 0|1 1|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|1 0|1 1|1 0|0 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|0 1|1 1|0 0|1 1|0 1|1 0|1 0|1 1|0 0|0 1|1 +1 228561779 rs548264768 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=19579;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548264768;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0085;AF_male=0.0049;AF_female=0.0062;AF_raw=0.0055;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0085;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0084;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0010608;Kaviar_AC=164;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 228562350 rs72762068 T C 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=19099;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.T22560C:p.L7520L,OBSCN:NM_001271223:exon108:c.T25431C:p.L8477L;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72762068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0178;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0305;ExAC_nontcga_NFE=0.0255;ExAC_nontcga_OTH=0.0203;ExAC_nontcga_SAS=0.0079;AF=0.0200;AF_popmax=0.0278;AF_male=0.0202;AF_female=0.0198;AF_raw=0.0201;AF_afr=0.0053;AF_sas=.;AF_amr=0.0142;AF_eas=0.0006;AF_nfe=0.0278;AF_fin=0.0317;AF_asj=0.0174;AF_oth=0.0239;non_topmed_AF_popmax=0.0289;non_neuro_AF_popmax=0.0279;non_cancer_AF_popmax=.;controls_AF_popmax=0.0349;Kaviar_AF=0.0183051;Kaviar_AC=2830;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.305033;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228562523 rs545755422 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17916;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545755422;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228563558 rs148149631 C A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16874;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148149631;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.025e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0015;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228563748 rs539506090 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19689;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon99:c.G22826A:p.C7609Y,OBSCN:NM_001271223:exon110:c.G25697A:p.C8566Y;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539506090;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.675;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.202;Polyphen2_HVAR_rankscore=0.353;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.346;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.434;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_converted_rankscore=0.213;FATHMM_pred=T;PROVEAN_score=-5.87;PROVEAN_converted_rankscore=0.886;PROVEAN_pred=D;VEST3_score=0.416;VEST3_rankscore=0.618;MetaSVM_score=-1.098;MetaSVM_rankscore=0.043;MetaSVM_pred=T;MetaLR_score=0.062;MetaLR_rankscore=0.260;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.417;M-CAP_pred=T;REVEL_score=0.237;REVEL_rankscore=0.545;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.122;CADD_raw_rankscore=0.844;CADD_phred=28.3;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.938;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.367;Eigen-PC-raw=0.447;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=5.21;GERP++_RS_rankscore=0.719;phyloP100way_vertebrate=7.372;phyloP100way_vertebrate_rankscore=0.787;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.945;SiPhy_29way_logOdds_rankscore=0.926;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0018;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.192e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.913305;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564757 rs144017124 C T 100 PASS AC=1;AF=0.00878594;AN=214;NS=2504;DP=15566;EAS_AF=0.0139;AMR_AF=0.0331;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.C23044T:p.R7682C,OBSCN:NM_001271223:exon112:c.C25915T:p.R8639C;1000g2015aug_all=0.00878594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144017124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.73;MutationAssessor_score_rankscore=0.801;MutationAssessor_pred=M;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-4.65;PROVEAN_converted_rankscore=0.794;PROVEAN_pred=D;VEST3_score=0.378;VEST3_rankscore=0.535;MetaSVM_score=-0.631;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.129;MetaLR_rankscore=0.438;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.401;REVEL_rankscore=0.718;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.283;CADD_raw_rankscore=0.868;CADD_phred=29.1;DANN_score=0.982;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.968;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.631;Eigen-PC-raw=0.534;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=4.52;GERP++_RS_rankscore=0.546;phyloP100way_vertebrate=7.666;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=17.599;SiPhy_29way_logOdds_rankscore=0.879;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0117;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.1127;ExAC_nontcga_EAS=0.0432;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.012;ExAC_nontcga_SAS=0.0011;AF=0.0021;AF_popmax=0.0389;AF_male=0.0022;AF_female=0.0019;AF_raw=0.0021;AF_afr=0.0005;AF_sas=.;AF_amr=0.0389;AF_eas=0.0135;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0048059;Kaviar_AC=743;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564796 rs559110117 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15365;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23083A:p.G7695R,OBSCN:NM_001271223:exon112:c.G25954A:p.G8652R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559110117;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.115;Polyphen2_HDIV_rankscore=0.249;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.968;MutationTaster_converted_rankscore=0.266;MutationTaster_pred=N;MutationAssessor_score=2.55;MutationAssessor_score_rankscore=0.747;MutationAssessor_pred=M;FATHMM_score=0.64;FATHMM_converted_rankscore=0.529;FATHMM_pred=T;PROVEAN_score=-3.8;PROVEAN_converted_rankscore=0.717;PROVEAN_pred=D;VEST3_score=0.169;VEST3_rankscore=0.462;MetaSVM_score=-0.402;MetaSVM_rankscore=0.720;MetaSVM_pred=T;MetaLR_score=0.368;MetaLR_rankscore=0.728;MetaLR_pred=T;M-CAP_score=0.116;M-CAP_rankscore=0.797;M-CAP_pred=D;REVEL_score=0.252;REVEL_rankscore=0.566;MutPred_score=0.623;MutPred_rankscore=0.758;CADD_raw=4.260;CADD_raw_rankscore=0.571;CADD_phred=23.9;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.512;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.509;Eigen-PC-raw=-0.569;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=3.9;GERP++_RS_rankscore=0.441;phyloP100way_vertebrate=5.109;phyloP100way_vertebrate_rankscore=0.642;phyloP20way_mammalian=0.094;phyloP20way_mammalian_rankscore=0.197;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.312;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=16.183;SiPhy_29way_logOdds_rankscore=0.817;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.29e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.476e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=8.12e-05;AF=3.192e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228564884 rs56174824 G A 100 PASS AC=17;AF=0.140775;AN=214;NS=2504;DP=16390;EAS_AF=0.3085;AMR_AF=0.0432;AFR_AF=0.0983;EUR_AF=0.0974;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23171A:p.R7724H,OBSCN:NM_001271223:exon112:c.G26042A:p.R8681H;1000g2015aug_all=0.140775;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56174824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=P;MutationAssessor_score=0.03;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_converted_rankscore=0.405;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.281;MetaSVM_score=-1.004;MetaSVM_rankscore=0.288;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.076;REVEL_rankscore=0.227;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.749;CADD_raw_rankscore=0.271;CADD_phred=14.69;DANN_score=0.808;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.170;fathmm-MKL_coding_rankscore=0.194;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.040;Eigen-PC-raw=-0.945;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.388;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-2.4;GERP++_RS_rankscore=0.062;phyloP100way_vertebrate=0.867;phyloP100way_vertebrate_rankscore=0.274;phyloP20way_mammalian=-0.765;phyloP20way_mammalian_rankscore=0.034;phastCons100way_vertebrate=0.334;phastCons100way_vertebrate_rankscore=0.254;phastCons20way_mammalian=0.973;phastCons20way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=11.412;SiPhy_29way_logOdds_rankscore=0.490;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=ENSG00000154342.4|ENSG00000162931.7|ENSG00000154370.9;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0847;ExAC_nontcga_ALL=0.1711;ExAC_nontcga_AFR=0.1653;ExAC_nontcga_AMR=0.0631;ExAC_nontcga_EAS=0.4233;ExAC_nontcga_FIN=0.2601;ExAC_nontcga_NFE=0.1456;ExAC_nontcga_OTH=0.1887;ExAC_nontcga_SAS=0.1619;AF=0.1225;AF_popmax=0.3149;AF_male=0.1212;AF_female=0.1241;AF_raw=0.1224;AF_afr=0.1080;AF_sas=.;AF_amr=0.0472;AF_eas=0.3149;AF_nfe=0.0993;AF_fin=0.1912;AF_asj=0.1069;AF_oth=0.1342;non_topmed_AF_popmax=0.3109;non_neuro_AF_popmax=0.3149;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.101926;Kaviar_AC=15758;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228565208 rs55755045 C T 100 PASS AC=2;AF=0.0117812;AN=214;NS=2504;DP=18707;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0045;EUR_AF=0.0288;SAS_AF=0.0164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.C23298T:p.S7766S,OBSCN:NM_001271223:exon113:c.C26169T:p.S8723S;1000g2015aug_all=0.0117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55755045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0354;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0070;ExAC_nontcga_AMR=0.0116;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0314;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0214;ExAC_nontcga_SAS=0.0254;AF=0.0274;AF_popmax=0.0428;AF_male=0.0261;AF_female=0.0291;AF_raw=0.0274;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0428;AF_fin=0.0242;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.0428;non_neuro_AF_popmax=0.0438;non_cancer_AF_popmax=.;controls_AF_popmax=0.0470;Kaviar_AF=0.0264744;Kaviar_AC=4093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565209 rs182714476 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18716;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23299A:p.E7767K,OBSCN:NM_001271223:exon113:c.G26170A:p.E8724K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182714476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.540;MutationTaster_converted_rankscore=0.330;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.466;PROVEAN_pred=N;VEST3_score=0.177;VEST3_rankscore=0.472;MetaSVM_score=-0.527;MetaSVM_rankscore=0.677;MetaSVM_pred=T;MetaLR_score=0.326;MetaLR_rankscore=0.694;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.313;REVEL_rankscore=0.639;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.258;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.995;DANN_rankscore=0.690;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_rankscore=0.585;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.176;Eigen-PC-raw=0.215;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.93;GERP++_RS_rankscore=0.643;phyloP100way_vertebrate=3.946;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=0.985;phyloP20way_mammalian_rankscore=0.599;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.939;phastCons20way_mammalian_rankscore=0.413;SiPhy_29way_logOdds=18.135;SiPhy_29way_logOdds_rankscore=0.895;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0035;ExAC_nontcga_SAS=0.0012;AF=0.0004;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011513;Kaviar_AC=178;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565255 rs535313248 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.T23345C:p.L7782P,OBSCN:NM_001271223:exon113:c.T26216C:p.L8739P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535313248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=4.34;MutationAssessor_score_rankscore=0.985;MutationAssessor_pred=H;FATHMM_score=0.07;FATHMM_converted_rankscore=0.617;FATHMM_pred=T;PROVEAN_score=-3.79;PROVEAN_converted_rankscore=0.716;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.825;MetaSVM_score=0.362;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.525;MetaLR_rankscore=0.823;MetaLR_pred=D;M-CAP_score=0.218;M-CAP_rankscore=0.877;M-CAP_pred=D;REVEL_score=0.670;REVEL_rankscore=0.879;MutPred_score=0.957;MutPred_rankscore=0.995;CADD_raw=5.069;CADD_raw_rankscore=0.683;CADD_phred=25.3;DANN_score=0.973;DANN_rankscore=0.329;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.757;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.750;Eigen-PC-raw=0.606;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=7.891;phyloP100way_vertebrate_rankscore=0.857;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.880;phastCons20way_mammalian_rankscore=0.369;SiPhy_29way_logOdds=14.949;SiPhy_29way_logOdds_rankscore=0.706;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565311 rs375985616 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23401A:p.E7801K,OBSCN:NM_001271223:exon113:c.G26272A:p.E8758K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375985616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_rankscore=0.609;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.671;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.773;MutationTaster_converted_rankscore=0.303;MutationTaster_pred=N;MutationAssessor_score=1.095;MutationAssessor_score_rankscore=0.275;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-2.05;PROVEAN_converted_rankscore=0.470;PROVEAN_pred=N;VEST3_score=0.325;VEST3_rankscore=0.423;MetaSVM_score=-0.778;MetaSVM_rankscore=0.565;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_rankscore=0.594;MetaLR_pred=T;M-CAP_score=0.234;M-CAP_rankscore=0.884;M-CAP_pred=D;REVEL_score=0.331;REVEL_rankscore=0.657;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.702;CADD_raw_rankscore=0.917;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.713;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.659;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.053;Eigen-PC-raw=0.072;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.22;GERP++_RS_rankscore=0.490;phyloP100way_vertebrate=6.727;phyloP100way_vertebrate_rankscore=0.744;phyloP20way_mammalian=0.982;phyloP20way_mammalian_rankscore=0.598;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.862;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=15.692;SiPhy_29way_logOdds_rankscore=0.771;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.568e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.189e-05;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.017004;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 228565329 rs61730829 G A 100 PASS AC=4;AF=0.00499201;AN=214;NS=2504;DP=21484;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23419A:p.V7807I,OBSCN:NM_001271223:exon113:c.G26290A:p.V8764I;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61730829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.461;SIFT_converted_rankscore=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=N;MutationAssessor_score=-1.35;MutationAssessor_score_rankscore=0.007;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_converted_rankscore=0.340;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_converted_rankscore=0.082;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.386;MetaSVM_score=-0.978;MetaSVM_rankscore=0.354;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.044;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.334;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.599;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.938;Eigen-PC-raw=-0.742;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.374;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=0.569;GERP++_RS_rankscore=0.165;phyloP100way_vertebrate=1.530;phyloP100way_vertebrate_rankscore=0.354;phyloP20way_mammalian=-0.310;phyloP20way_mammalian_rankscore=0.079;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.347;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=5.117;SiPhy_29way_logOdds_rankscore=0.141;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0231;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0257;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0017;AF=0.0136;AF_popmax=0.0178;AF_male=0.0130;AF_female=0.0142;AF_raw=0.0136;AF_afr=0.0043;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0178;AF_fin=0.0222;AF_asj=0.0207;AF_oth=0.0193;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0172;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0152197;Kaviar_AC=2353;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.583646;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565445 rs3738687 C A 100 PASS AC=17;AF=0.124201;AN=214;NS=2504;DP=17094;EAS_AF=0.3105;AMR_AF=0.0403;AFR_AF=0.0371;EUR_AF=0.0974;SAS_AF=0.137;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.124201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3738687;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0852;ExAC_nontcga_ALL=0.1209;ExAC_nontcga_AFR=0.0516;ExAC_nontcga_AMR=0.0358;ExAC_nontcga_EAS=0.3360;ExAC_nontcga_FIN=0.1999;ExAC_nontcga_NFE=0.1002;ExAC_nontcga_OTH=0.1389;ExAC_nontcga_SAS=0.1507;AF=0.1059;AF_popmax=0.3140;AF_male=0.1038;AF_female=0.1087;AF_raw=0.1060;AF_afr=0.0532;AF_sas=.;AF_amr=0.0413;AF_eas=0.3140;AF_nfe=0.0975;AF_fin=0.1909;AF_asj=0.1;AF_oth=0.1296;non_topmed_AF_popmax=0.3100;non_neuro_AF_popmax=0.3140;non_cancer_AF_popmax=.;controls_AF_popmax=0.3147;Kaviar_AF=0.104604;Kaviar_AC=16172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 228565556 rs145605408 T G 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228565826 rs34510358 T C 100 PASS 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EGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 228566528 rs147604939 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12347;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=OBSCN;GeneDetail.refGene=NM_001271223:c.*32G>A\x3bNM_001098623:c.*32G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147604939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.164e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.218e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 229567663 rs398123565;rs6673359;rs398123565 C GG 100 PASS AC=43;AF=0.129393;AN=214;NS=2504;DP=9716;EAS_AF=0.1607;AMR_AF=0.1081;AFR_AF=0.0968;EUR_AF=0.1571;SAS_AF=0.1278;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876657420;CLNALLELEID=228354;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559150;ALLELE_END;VINYL_score=11 GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229567683 rs59228224 TC T 100 PASS AC=43;AF=0.209465;AN=214;NS=2504;DP=8674;EAS_AF=0.1607;AMR_AF=0.2925;AFR_AF=0.2844;EUR_AF=0.172;SAS_AF=0.138;AA=C|C|-|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59228224;CLNALLELEID=99459;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1609;ExAC_nontcga_ALL=0.1694;ExAC_nontcga_AFR=0.2639;ExAC_nontcga_AMR=0.2453;ExAC_nontcga_EAS=0.1558;ExAC_nontcga_FIN=0.0988;ExAC_nontcga_NFE=0.1561;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1490;AF=0.1942;AF_popmax=0.2790;AF_male=0.1974;AF_female=0.1902;AF_raw=0.1965;AF_afr=0.2790;AF_sas=.;AF_amr=0.2715;AF_eas=0.1744;AF_nfe=0.1611;AF_fin=0.1238;AF_asj=0.2695;AF_oth=0.1560;non_topmed_AF_popmax=0.2797;non_neuro_AF_popmax=0.2799;non_cancer_AF_popmax=.;controls_AF_popmax=0.2804;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.586072;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59228224;CLNALLELEID=99459;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1609;ExAC_nontcga_ALL=0.1694;ExAC_nontcga_AFR=0.2639;ExAC_nontcga_AMR=0.2453;ExAC_nontcga_EAS=0.1558;ExAC_nontcga_FIN=0.0988;ExAC_nontcga_NFE=0.1561;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1490;AF=0.1942;AF_popmax=0.2790;AF_male=0.1974;AF_female=0.1902;AF_raw=0.1965;AF_afr=0.2790;AF_sas=.;AF_amr=0.2715;AF_eas=0.1744;AF_nfe=0.1611;AF_fin=0.1238;AF_asj=0.2695;AF_oth=0.1560;non_topmed_AF_popmax=0.2797;non_neuro_AF_popmax=0.2799;non_cancer_AF_popmax=.;controls_AF_popmax=0.2804;Kaviar_AF=0.0049223;Kaviar_AC=761;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.586072;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229567826 rs542109877 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10867;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTA1:NM_001100:exon5:c.C723T:p.S241S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542109877;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.425e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.19e-05;AF_popmax=6.488e-05;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.939397;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 229568231 rs527621 T G 100 PASS AC=213;AF=0.999002;AN=214;NS=2504;DP=3486;EAS_AF=0.999;AMR_AF=0.9971;AFR_AF=1;EUR_AF=0.999;SAS_AF=0.999;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.999002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9992;AF_popmax=1;AF_male=0.9990;AF_female=0.9994;AF_raw=0.9991;AF_afr=0.9999;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9994;AF_fin=0.9994;AF_asj=0.9659;AF_oth=0.9980;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938431|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.588790;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 229568300 rs200976037 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=4699;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200976037;CLNALLELEID=280964;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.6445;dbscSNV_RF_SCORE=0.462;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=4.105e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=5.89e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.445e-05;AF_popmax=0.0001;AF_male=5.798e-05;AF_female=7.254e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.193e-05;non_neuro_AF_popmax=7.438e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000938431|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.849690;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 229568632 rs11803533 A G 100 PASS AC=44;AF=0.273962;AN=214;NS=2504;DP=13128;EAS_AF=0.1637;AMR_AF=0.3098;AFR_AF=0.503;EUR_AF=0.1779;SAS_AF=0.1513;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11803533;CLNALLELEID=99452;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.1807;ExAC_nontcga_ALL=0.2085;ExAC_nontcga_AFR=0.4689;ExAC_nontcga_AMR=0.2686;ExAC_nontcga_EAS=0.1726;ExAC_nontcga_FIN=0.1157;ExAC_nontcga_NFE=0.1806;ExAC_nontcga_OTH=0.1720;ExAC_nontcga_SAS=0.1755;AF=0.2491;AF_popmax=0.4744;AF_male=0.2559;AF_female=0.2405;AF_raw=0.2505;AF_afr=0.4744;AF_sas=.;AF_amr=0.2766;AF_eas=0.1767;AF_nfe=0.1623;AF_fin=0.1181;AF_asj=0.2966;AF_oth=0.1685;non_topmed_AF_popmax=0.4742;non_neuro_AF_popmax=0.4723;non_cancer_AF_popmax=.;controls_AF_popmax=0.4667;Kaviar_AF=0.204376;Kaviar_AC=31597;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.219697::0.50349;Heart_Left_Ventricle=Heart_Left_Ventricle::0.204044::0.440228;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613966;ALLELE_END;VINYL_score=4 GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 229568637 rs41271481 C G 100 PASS AC=44;AF=0.211861;AN=214;NS=2504;DP=13058;EAS_AF=0.1607;AMR_AF=0.2925;AFR_AF=0.292;EUR_AF=0.173;SAS_AF=0.1391;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41271481;CLNALLELEID=99451;CLNDN=Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion;CLNDISDB=MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.086;esp6500siv2_ea=0.1751;ExAC_nontcga_ALL=0.1865;ExAC_nontcga_AFR=0.2763;ExAC_nontcga_AMR=0.2569;ExAC_nontcga_EAS=0.1717;ExAC_nontcga_FIN=0.1158;ExAC_nontcga_NFE=0.1768;ExAC_nontcga_OTH=0.1623;ExAC_nontcga_SAS=0.1591;AF=0.1940;AF_popmax=0.2827;AF_male=0.1992;AF_female=0.1875;AF_raw=0.1955;AF_afr=0.2827;AF_sas=.;AF_amr=0.2695;AF_eas=0.1757;AF_nfe=0.1605;AF_fin=0.1175;AF_asj=0.2724;AF_oth=0.1525;non_topmed_AF_popmax=0.2834;non_neuro_AF_popmax=0.2836;non_cancer_AF_popmax=.;controls_AF_popmax=0.2854;Kaviar_AF=0.183335;Kaviar_AC=28344;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.191288::0.567795;Heart_Left_Ventricle=Heart_Left_Ventricle::0.172794::0.489378;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.613966;ALLELE_END;VINYL_score=4 GT 0|0 0|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 +1 236849952 rs138279482 C T 100 PASS AC=11;AF=0.0115815;AN=214;NS=2504;DP=6104;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0378;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=ACTN2;GeneDetail.refGene=NM_001278343:c.-22C>T\x3bNM_001103:c.-22C>T\x3bNM_001278344:c.-49021C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138279482;CLNALLELEID=139990;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0252;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0192;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0103;ExAC_nontcga_NFE=0.0376;ExAC_nontcga_OTH=0.0300;ExAC_nontcga_SAS=0.0163;AF=0.0208;AF_popmax=0.0316;AF_male=0.0209;AF_female=0.0208;AF_raw=0.0208;AF_afr=0.0073;AF_sas=.;AF_amr=0.0224;AF_eas=0.0013;AF_nfe=0.0316;AF_fin=0.0116;AF_asj=0.0638;AF_oth=0.0197;non_topmed_AF_popmax=0.0300;non_neuro_AF_popmax=0.0304;non_cancer_AF_popmax=.;controls_AF_popmax=0.0242;Kaviar_AF=0.0243076;Kaviar_AC=3758;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497882|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.706106;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +1 236849999 rs121434525 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7220;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon1:c.A26G:p.Q9R,ACTN2:NM_001278343:exon1:c.A26G:p.Q9R;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121434525;CLNALLELEID=33352;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.188;SIFT_converted_rankscore=0.213;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_converted_rankscore=0.051;LRT_pred=N;MutationTaster_score=0.576;MutationTaster_converted_rankscore=0.323;MutationTaster_pred=A;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-1.22;FATHMM_converted_rankscore=0.788;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.723;VEST3_rankscore=0.723;MetaSVM_score=-0.840;MetaSVM_rankscore=0.527;MetaSVM_pred=T;MetaLR_score=0.235;MetaLR_rankscore=0.602;MetaLR_pred=T;M-CAP_score=0.593;M-CAP_rankscore=0.964;M-CAP_pred=D;REVEL_score=0.357;REVEL_rankscore=0.681;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.768;CADD_raw_rankscore=0.273;CADD_phred=14.80;DANN_score=0.984;DANN_rankscore=0.410;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.340;Eigen-PC-raw=-0.152;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.455;integrated_fitCons_score_rankscore=0.088;integrated_confidence_value=0;GERP++_RS=3.74;GERP++_RS_rankscore=0.419;phyloP100way_vertebrate=4.693;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=1.086;phyloP20way_mammalian_rankscore=0.855;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.056;SiPhy_29way_logOdds_rankscore=0.354;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0014;AF_male=0.0008;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022391|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497882|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.831313;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236881185 rs199910162 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20535;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon2:c.C154T:p.L52L,ACTN2:NM_001278343:exon2:c.C154T:p.L52L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199910162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.535e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696288;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236882303 rs1341864 T C 100 PASS AC=214;AF=0.992612;AN=214;NS=2504;DP=20349;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.975;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;1000g2015aug_all=0.992612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341864;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9979;ExAC_nontcga_AFR=0.9765;ExAC_nontcga_AMR=0.9991;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9999;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9933;AF_popmax=1;AF_male=0.9928;AF_female=0.9940;AF_raw=0.9933;AF_afr=0.9763;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.683489;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883421 rs1341863 C T 100 PASS AC=214;AF=0.920727;AN=214;NS=2504;DP=18511;EAS_AF=0.9831;AMR_AF=0.8559;AFR_AF=0.8139;EUR_AF=0.996;SAS_AF=0.9693;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N;1000g2015aug_all=0.920727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341863;CLNALLELEID=53107;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9953;ExAC_nontcga_ALL=0.9603;ExAC_nontcga_AFR=0.8166;ExAC_nontcga_AMR=0.8605;ExAC_nontcga_EAS=0.9803;ExAC_nontcga_FIN=0.9868;ExAC_nontcga_NFE=0.9955;ExAC_nontcga_OTH=0.9755;ExAC_nontcga_SAS=0.9704;AF=0.9376;AF_popmax=0.9946;AF_male=0.9359;AF_female=0.9398;AF_raw=0.9375;AF_afr=0.8075;AF_sas=.;AF_amr=0.8913;AF_eas=0.9775;AF_nfe=0.9946;AF_fin=0.9868;AF_asj=1;AF_oth=0.9752;non_topmed_AF_popmax=0.9940;non_neuro_AF_popmax=0.9948;non_cancer_AF_popmax=.;controls_AF_popmax=0.9937;Kaviar_AF=0.949224;Kaviar_AC=146752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.617908;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883564 rs1341862 G A 100 PASS AC=214;AF=0.922324;AN=214;NS=2504;DP=18946;EAS_AF=0.9831;AMR_AF=0.8573;AFR_AF=0.8192;EUR_AF=0.996;SAS_AF=0.9693;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.922324;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1341862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9394;AF_popmax=0.9946;AF_male=0.9382;AF_female=0.9409;AF_raw=0.9394;AF_afr=0.8141;AF_sas=.;AF_amr=0.8915;AF_eas=0.9775;AF_nfe=0.9946;AF_fin=0.9868;AF_asj=1;AF_oth=0.9752;non_topmed_AF_popmax=0.9940;non_neuro_AF_popmax=0.9948;non_cancer_AF_popmax=.;controls_AF_popmax=0.9937;Kaviar_AF=0.186459;Kaviar_AC=28827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.650803;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 236883585 rs143503216 T G 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=18463;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143503216;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0071;AF_male=0.0042;AF_female=0.0045;AF_raw=0.0043;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0017;AF_asj=0.0103;AF_oth=0.0046;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.772872;ALLELE_END;VINYL_score=7 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 236894647 rs819640 G A 100 PASS AC=69;AF=0.491613;AN=214;NS=2504;DP=16833;EAS_AF=0.5595;AMR_AF=0.3516;AFR_AF=0.6006;EUR_AF=0.3111;SAS_AF=0.5593;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.491613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs819640;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3102;ExAC_nontcga_ALL=0.3922;ExAC_nontcga_AFR=0.5665;ExAC_nontcga_AMR=0.3982;ExAC_nontcga_EAS=0.5513;ExAC_nontcga_FIN=0.2963;ExAC_nontcga_NFE=0.3119;ExAC_nontcga_OTH=0.3454;ExAC_nontcga_SAS=0.5216;AF=0.3840;AF_popmax=0.5595;AF_male=0.3911;AF_female=0.3751;AF_raw=0.3838;AF_afr=0.5595;AF_sas=.;AF_amr=0.3597;AF_eas=0.5457;AF_nfe=0.2910;AF_fin=0.3022;AF_asj=0.3724;AF_oth=0.3506;non_topmed_AF_popmax=0.5604;non_neuro_AF_popmax=0.5621;non_cancer_AF_popmax=.;controls_AF_popmax=0.5715;Kaviar_AF=0.375403;Kaviar_AC=58038;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.564112;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|1 1|1 1|1 0|0 0|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 +1 236894667 rs377331254 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16796;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377331254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236899042 rs2288600 G A 100 PASS AC=25;AF=0.195887;AN=214;NS=2504;DP=19031;EAS_AF=0.1935;AMR_AF=0.1686;AFR_AF=0.2216;EUR_AF=0.1282;SAS_AF=0.2526;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195887;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288600;CLNALLELEID=172789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1690;ExAC_nontcga_AFR=0.2021;ExAC_nontcga_AMR=0.2211;ExAC_nontcga_EAS=0.1997;ExAC_nontcga_FIN=0.1389;ExAC_nontcga_NFE=0.1382;ExAC_nontcga_OTH=0.1331;ExAC_nontcga_SAS=0.2158;AF=0.1537;AF_popmax=0.1996;AF_male=0.1552;AF_female=0.1518;AF_raw=0.1536;AF_afr=0.1996;AF_sas=.;AF_amr=0.1856;AF_eas=0.1913;AF_nfe=0.1255;AF_fin=0.1488;AF_asj=0.1;AF_oth=0.1369;non_topmed_AF_popmax=0.1996;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2077;Kaviar_AF=0.15646;Kaviar_AC=24189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.899984;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 +1 236900334 rs1560314 C T 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=16058;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1560314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236900554 rs148335592 C T 100 PASS AC=4;AF=0.00539137;AN=214;NS=2504;DP=11818;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148335592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0130;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0093;ExAC_nontcga_NFE=0.0226;ExAC_nontcga_OTH=0.0122;ExAC_nontcga_SAS=0.0030;AF=0.0138;AF_popmax=0.0227;AF_male=0.0146;AF_female=0.0127;AF_raw=0.0145;AF_afr=0.0043;AF_sas=.;AF_amr=0.0127;AF_eas=0;AF_nfe=0.0227;AF_fin=0.0075;AF_asj=0.0447;AF_oth=0.0104;non_topmed_AF_popmax=0.0226;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.0166;Kaviar_AF=0.0153879;Kaviar_AC=2379;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497883|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.362508;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236900598 rs7521191 C T 100 PASS AC=158;AF=0.531949;AN=214;NS=2504;DP=8408;EAS_AF=0.4861;AMR_AF=0.6628;AFR_AF=0.3631;EUR_AF=0.7197;SAS_AF=0.5215;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.531949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7521191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4007;AF_popmax=0.5332;AF_male=0.4026;AF_female=0.3984;AF_raw=0.4933;AF_afr=0.2949;AF_sas=.;AF_amr=0.3504;AF_eas=0.3911;AF_nfe=0.5332;AF_fin=0.3102;AF_asj=0.5490;AF_oth=0.4660;non_topmed_AF_popmax=0.5201;non_neuro_AF_popmax=0.5318;non_cancer_AF_popmax=.;controls_AF_popmax=0.4770;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497883|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 0|0 +1 236902532 rs34704730 ATT A 100 PASS AC=8;AF=0.0509185;AN=214;NS=2504;DP=18621;EAS_AF=0.0675;AMR_AF=0.0274;AFR_AF=0.0303;EUR_AF=0.0388;SAS_AF=0.091;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34704730;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0592;AF_popmax=0.1103;AF_male=0.0585;AF_female=0.0601;AF_raw=0.0494;AF_afr=0.0377;AF_sas=.;AF_amr=0.0421;AF_eas=0.1103;AF_nfe=0.0602;AF_fin=0.1047;AF_asj=0.0868;AF_oth=0.0742;non_topmed_AF_popmax=0.1108;non_neuro_AF_popmax=0.1103;non_cancer_AF_popmax=.;controls_AF_popmax=0.1131;Kaviar_AF=0.0096819;Kaviar_AC=252;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236902560 rs7527525 C G,T 100 PASS AC=8,127;AF=0.0499201,0.372404;AN=214;NS=2504;DP=16947;EAS_AF=0.0675,0.4038;AMR_AF=0.0274,0.4539;AFR_AF=0.0287,0.0893;EUR_AF=0.0388,0.6133;SAS_AF=0.0879,0.4172;AA=T|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7527525;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0618;ExAC_nontcga_AFR=0.0325;ExAC_nontcga_AMR=0.0243;ExAC_nontcga_EAS=0.0922;ExAC_nontcga_FIN=0.0459;ExAC_nontcga_NFE=0.0614;ExAC_nontcga_OTH=0.0708;ExAC_nontcga_SAS=0.0953;AF=0.0484;AF_popmax=0.1050;AF_male=0.0484;AF_female=0.0484;AF_raw=0.0484;AF_afr=0.0344;AF_sas=.;AF_amr=0.0274;AF_eas=0.1050;AF_nfe=0.0513;AF_fin=0.0463;AF_asj=0.0724;AF_oth=0.0535;non_topmed_AF_popmax=0.1057;non_neuro_AF_popmax=0.1050;non_cancer_AF_popmax=.;controls_AF_popmax=0.1066;Kaviar_AF=0.0566228;Kaviar_AC=8754;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.372404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7527525;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6395;ExAC_nontcga_ALL=0.5113;ExAC_nontcga_AFR=0.1503;ExAC_nontcga_AMR=0.4381;ExAC_nontcga_EAS=0.4122;ExAC_nontcga_FIN=0.6424;ExAC_nontcga_NFE=0.5992;ExAC_nontcga_OTH=0.5824;ExAC_nontcga_SAS=0.4460;AF=0.4791;AF_popmax=0.6298;AF_male=0.4729;AF_female=0.4870;AF_raw=0.4784;AF_afr=0.1504;AF_sas=.;AF_amr=0.4702;AF_eas=0.4143;AF_nfe=0.6298;AF_fin=0.6319;AF_asj=0.5759;AF_oth=0.5618;non_topmed_AF_popmax=0.6345;non_neuro_AF_popmax=0.6301;non_cancer_AF_popmax=.;controls_AF_popmax=0.6432;Kaviar_AF=0.500272;Kaviar_AC=77343;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 2|2 2|2 2|2 2|0 2|2 1|2 0|0 2|2 0|0 0|2 2|2 0|2 2|2 0|0 2|2 0|0 2|0 2|2 0|2 1|2 2|0 2|2 2|2 2|2 2|2 0|2 0|0 0|0 1|2 0|2 2|0 2|0 0|2 0|2 2|2 0|2 2|2 0|0 2|2 0|0 2|0 2|2 0|0 2|2 2|2 0|0 0|2 2|2 2|0 0|2 0|0 2|1 2|2 2|1 2|0 2|0 0|0 2|2 0|0 1|2 0|0 2|0 2|2 1|1 2|0 2|2 2|0 0|0 2|2 0|2 0|2 2|2 2|0 2|0 2|2 2|2 2|2 2|0 2|0 2|2 2|0 2|2 0|0 0|2 2|2 2|2 2|2 2|2 2|0 2|2 2|2 0|0 2|0 2|2 2|2 0|0 2|2 0|2 0|0 0|2 0|2 0|0 2|2 0|0 2|2 2|2 0|0 +1 236902594 rs2288601 C G 100 PASS AC=172;AF=0.767572;AN=214;NS=2504;DP=17586;EAS_AF=0.7837;AMR_AF=0.7853;AFR_AF=0.764;EUR_AF=0.7753;SAS_AF=0.7352;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.767572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288601;CLNALLELEID=53119;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.3121;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.7763;ExAC_nontcga_ALL=0.7757;ExAC_nontcga_AFR=0.7868;ExAC_nontcga_AMR=0.7441;ExAC_nontcga_EAS=0.7994;ExAC_nontcga_FIN=0.8076;ExAC_nontcga_NFE=0.7758;ExAC_nontcga_OTH=0.8026;ExAC_nontcga_SAS=0.7655;AF=0.7854;AF_popmax=0.8065;AF_male=0.7847;AF_female=0.7863;AF_raw=0.7843;AF_afr=0.7791;AF_sas=.;AF_amr=0.7535;AF_eas=0.8065;AF_nfe=0.7883;AF_fin=0.7888;AF_asj=0.7828;AF_oth=0.7795;non_topmed_AF_popmax=0.8069;non_neuro_AF_popmax=0.8065;non_cancer_AF_popmax=.;controls_AF_popmax=0.8238;Kaviar_AF=0.763173;Kaviar_AC=117988;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.688691;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|0 +1 236902865 rs2288602 A C 100 PASS AC=134;AF=0.422724;AN=214;NS=2504;DP=19686;EAS_AF=0.4802;AMR_AF=0.4755;AFR_AF=0.1172;EUR_AF=0.6501;SAS_AF=0.5051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.422724;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288602;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6570;ExAC_nontcga_ALL=0.5821;ExAC_nontcga_AFR=0.1935;ExAC_nontcga_AMR=0.4812;ExAC_nontcga_EAS=0.5283;ExAC_nontcga_FIN=0.6912;ExAC_nontcga_NFE=0.6662;ExAC_nontcga_OTH=0.6570;ExAC_nontcga_SAS=0.5541;AF=0.5279;AF_popmax=0.6814;AF_male=0.5214;AF_female=0.5362;AF_raw=0.5281;AF_afr=0.1858;AF_sas=.;AF_amr=0.4965;AF_eas=0.5259;AF_nfe=0.6814;AF_fin=0.6766;AF_asj=0.6483;AF_oth=0.6160;non_topmed_AF_popmax=0.6869;non_neuro_AF_popmax=0.6803;non_cancer_AF_popmax=.;controls_AF_popmax=0.6943;Kaviar_AF=0.559702;Kaviar_AC=86531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 1|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 1|1 0|0 0|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|0 0|0 1|1 0|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 0|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 0|0 +1 236907966 rs35956798 G A 100 PASS AC=3;AF=0.0347444;AN=214;NS=2504;DP=20071;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1165;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.G1296A:p.A432A,ACTN2:NM_001278343:exon12:c.G1296A:p.A432A,ACTN2:NM_001278344:exon14:c.G672A:p.A224A;1000g2015aug_all=0.0347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35956798;CLNALLELEID=53068;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0144;ExAC_nontcga_ALL=0.0176;ExAC_nontcga_AFR=0.1193;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0049;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0033;AF=0.0420;AF_popmax=0.1261;AF_male=0.0446;AF_female=0.0388;AF_raw=0.0420;AF_afr=0.1261;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0112;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.1263;non_neuro_AF_popmax=0.1213;non_cancer_AF_popmax=.;controls_AF_popmax=0.1243;Kaviar_AF=0.0180399;Kaviar_AC=2789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.379015;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908011 rs34785693 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19247;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.C1341T:p.F447F,ACTN2:NM_001278343:exon12:c.C1341T:p.F447F,ACTN2:NM_001278344:exon14:c.C717T:p.F239F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34785693;CLNALLELEID=53071;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0015;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0024;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.002348;Kaviar_AC=363;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.802534;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908053 rs34827377 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon12:c.C1383T:p.I461I,ACTN2:NM_001278343:exon12:c.C1383T:p.I461I,ACTN2:NM_001278344:exon14:c.C759T:p.I253I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34827377;CLNALLELEID=53073;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=0.0008;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0009767;Kaviar_AC=151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.745310;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236908144 rs78539646 T C 100 PASS AC=3;AF=0.0189696;AN=214;NS=2504;DP=18372;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.059;EUR_AF=0.0089;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78539646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0215;AF_popmax=0.0540;AF_male=0.0221;AF_female=0.0208;AF_raw=0.0215;AF_afr=0.0540;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0049;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0540;non_neuro_AF_popmax=0.0538;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0026714;Kaviar_AC=413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911045 rs201179281 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon13:c.G1485A:p.T495T,ACTN2:NM_001278343:exon13:c.G1485A:p.T495T,ACTN2:NM_001278344:exon15:c.G861A:p.T287T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201179281;CLNALLELEID=172532;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.875e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.559e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.481e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.633162;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911122 rs79971593 C T 100 PASS AC=7;AF=0.0782748;AN=214;NS=2504;DP=17042;EAS_AF=0.1508;AMR_AF=0.0548;AFR_AF=0.0356;EUR_AF=0.0368;SAS_AF=0.1207;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0782748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79971593;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0411;ExAC_nontcga_AMR=0.0799;ExAC_nontcga_EAS=0.1707;ExAC_nontcga_FIN=0.1010;ExAC_nontcga_NFE=0.0418;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.1111;AF=0.0503;AF_popmax=0.1468;AF_male=0.0502;AF_female=0.0504;AF_raw=0.0503;AF_afr=0.0374;AF_sas=.;AF_amr=0.0542;AF_eas=0.1468;AF_nfe=0.0384;AF_fin=0.0872;AF_asj=0.0517;AF_oth=0.0625;non_topmed_AF_popmax=0.1465;non_neuro_AF_popmax=0.1468;non_cancer_AF_popmax=.;controls_AF_popmax=0.1332;Kaviar_AF=0.0524767;Kaviar_AC=8113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527607;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236911137 rs10925211 A G 100 PASS AC=19;AF=0.10623;AN=214;NS=2504;DP=17264;EAS_AF=0.1091;AMR_AF=0.1816;AFR_AF=0.0749;EUR_AF=0.0586;SAS_AF=0.1411;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925211;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0759;AF_popmax=0.1478;AF_male=0.0795;AF_female=0.0715;AF_raw=0.0760;AF_afr=0.0851;AF_sas=.;AF_amr=0.1478;AF_eas=0.1478;AF_nfe=0.0648;AF_fin=0.0472;AF_asj=0.1;AF_oth=0.0869;non_topmed_AF_popmax=0.1489;non_neuro_AF_popmax=0.1478;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0167398;Kaviar_AC=2588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.490998;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236912597 rs2297955 A G 100 PASS AC=25;AF=0.189896;AN=214;NS=2504;DP=19253;EAS_AF=0.2351;AMR_AF=0.2133;AFR_AF=0.2383;EUR_AF=0.0835;SAS_AF=0.1708;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.189896;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297955;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1073;ExAC_nontcga_ALL=0.1437;ExAC_nontcga_AFR=0.2329;ExAC_nontcga_AMR=0.2112;ExAC_nontcga_EAS=0.2343;ExAC_nontcga_FIN=0.0877;ExAC_nontcga_NFE=0.1043;ExAC_nontcga_OTH=0.1517;ExAC_nontcga_SAS=0.1577;AF=0.1435;AF_popmax=0.2384;AF_male=0.1506;AF_female=0.1345;AF_raw=0.1438;AF_afr=0.2384;AF_sas=.;AF_amr=0.1714;AF_eas=0.2342;AF_nfe=0.0945;AF_fin=0.0837;AF_asj=0.1448;AF_oth=0.1186;non_topmed_AF_popmax=0.2382;non_neuro_AF_popmax=0.2407;non_cancer_AF_popmax=.;controls_AF_popmax=0.2456;Kaviar_AF=0.137657;Kaviar_AC=21282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236912622 rs553196107 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553196107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +1 236914738 rs140875513 ATTGT A 100 PASS AC=6;AF=0.0145767;AN=214;NS=2504;DP=20365;EAS_AF=0.001;AMR_AF=0.0173;AFR_AF=0.0106;EUR_AF=0.0249;SAS_AF=0.0215;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140875513;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0320;ExAC_nontcga_ALL=0.0258;ExAC_nontcga_AFR=0.0148;ExAC_nontcga_AMR=0.0149;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0386;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0453;ExAC_nontcga_SAS=0.0229;AF=0.0249;AF_popmax=0.0295;AF_male=0.0251;AF_female=0.0246;AF_raw=0.0251;AF_afr=0.0161;AF_sas=.;AF_amr=0.0177;AF_eas=0.0006;AF_nfe=0.0295;AF_fin=0.0374;AF_asj=0.0448;AF_oth=0.0239;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0294;non_cancer_AF_popmax=.;controls_AF_popmax=0.0261;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.696720,99.003311;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236914754 rs148194175 T C 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=19762;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148194175;CLNALLELEID=198056;CLNDN=Dilated_cardiomyopathy_1AA|not_specified;CLNDISDB=MedGen:C2677338,OMIM:612158|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0008;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.462539;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236914923 rs35997569 A G 100 PASS AC=1;AF=0.0195687;AN=214;NS=2504;DP=18247;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0681;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon15:c.A1810G:p.M604V,ACTN2:NM_001278343:exon15:c.A1810G:p.M604V,ACTN2:NM_001278344:exon17:c.A1186G:p.M396V;1000g2015aug_all=0.0195687;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35997569;CLNALLELEID=53084;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.526;SIFT_converted_rankscore=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.883;LRT_converted_rankscore=0.072;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.249;MutationTaster_pred=N;MutationAssessor_score=-0.695;MutationAssessor_score_rankscore=0.019;MutationAssessor_pred=N;FATHMM_score=0.8;FATHMM_converted_rankscore=0.488;FATHMM_pred=T;PROVEAN_score=-0.06;PROVEAN_converted_rankscore=0.079;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.059;MetaSVM_score=-1.040;MetaSVM_rankscore=0.174;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.023;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.771;CADD_raw_rankscore=0.167;CADD_phred=9.286;DANN_score=0.787;DANN_rankscore=0.120;fathmm-MKL_coding_score=0.184;fathmm-MKL_coding_rankscore=0.200;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.838;Eigen-PC-raw=-0.681;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.52;GERP++_RS_rankscore=0.294;phyloP100way_vertebrate=-0.035;phyloP100way_vertebrate_rankscore=0.121;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=4.606;SiPhy_29way_logOdds_rankscore=0.117;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0612;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0165;AF_popmax=0.0583;AF_male=0.0161;AF_female=0.0169;AF_raw=0.0165;AF_afr=0.0583;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0582;non_neuro_AF_popmax=0.0585;non_cancer_AF_popmax=.;controls_AF_popmax=0.0521;Kaviar_AF=0.0057244;Kaviar_AC=885;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909309;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236920782 rs201576900 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21072;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201576900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.8759;dbscSNV_RF_SCORE=0.846;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.564547;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236920960 rs114906297 A G 100 PASS AC=1;AF=0.0215655;AN=214;NS=2504;DP=22566;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0764;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114906297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0701;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.098e-05;AF=0.0187;AF_popmax=0.0659;AF_male=0.0187;AF_female=0.0186;AF_raw=0.0187;AF_afr=0.0659;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0661;non_neuro_AF_popmax=0.0659;non_cancer_AF_popmax=.;controls_AF_popmax=0.0638;Kaviar_AF=0.0064682;Kaviar_AC=1000;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.702438;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236923197 rs12730862 C T 100 PASS AC=25;AF=0.0664936;AN=214;NS=2504;DP=19781;EAS_AF=0.001;AMR_AF=0.0677;AFR_AF=0.143;EUR_AF=0.0676;SAS_AF=0.0286;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0664936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12730862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0738;AF_popmax=0.1337;AF_male=0.0773;AF_female=0.0695;AF_raw=0.0739;AF_afr=0.1337;AF_sas=.;AF_amr=0.0531;AF_eas=0.0006;AF_nfe=0.0629;AF_fin=0.0132;AF_asj=0.1241;AF_oth=0.0516;non_topmed_AF_popmax=0.1339;non_neuro_AF_popmax=0.1317;non_cancer_AF_popmax=.;controls_AF_popmax=0.1380;Kaviar_AF=0.01293;Kaviar_AC=1999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.679730;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 236924506 rs2282366 A G 100 PASS AC=188;AF=0.798123;AN=214;NS=2504;DP=20960;EAS_AF=0.7421;AMR_AF=0.8674;AFR_AF=0.7852;EUR_AF=0.8877;SAS_AF=0.7321;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.798123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2282366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8909;ExAC_nontcga_ALL=0.8467;ExAC_nontcga_AFR=0.8014;ExAC_nontcga_AMR=0.8857;ExAC_nontcga_EAS=0.7176;ExAC_nontcga_FIN=0.8569;ExAC_nontcga_NFE=0.8871;ExAC_nontcga_OTH=0.8487;ExAC_nontcga_SAS=0.7684;AF=0.8572;AF_popmax=0.8953;AF_male=0.8564;AF_female=0.8583;AF_raw=0.8571;AF_afr=0.8074;AF_sas=.;AF_amr=0.8715;AF_eas=0.7522;AF_nfe=0.8953;AF_fin=0.8631;AF_asj=0.8172;AF_oth=0.8462;non_topmed_AF_popmax=0.8955;non_neuro_AF_popmax=0.8954;non_cancer_AF_popmax=.;controls_AF_popmax=0.8928;Kaviar_AF=0.843572;Kaviar_AC=130418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.962402;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 +1 236925844 rs12063382 G A 100 PASS AC=32;AF=0.196086;AN=214;NS=2504;DP=16949;EAS_AF=0.2183;AMR_AF=0.1729;AFR_AF=0.2057;EUR_AF=0.171;SAS_AF=0.2025;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;1000g2015aug_all=0.196086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12063382;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1392;ExAC_nontcga_ALL=0.1715;ExAC_nontcga_AFR=0.1944;ExAC_nontcga_AMR=0.2034;ExAC_nontcga_EAS=0.1908;ExAC_nontcga_FIN=0.2220;ExAC_nontcga_NFE=0.1441;ExAC_nontcga_OTH=0.1527;ExAC_nontcga_SAS=0.1992;AF=0.1665;AF_popmax=0.2012;AF_male=0.1671;AF_female=0.1659;AF_raw=0.1667;AF_afr=0.1824;AF_sas=.;AF_amr=0.1804;AF_eas=0.2012;AF_nfe=0.1434;AF_fin=0.2205;AF_asj=0.0556;AF_oth=0.1636;non_topmed_AF_popmax=0.2003;non_neuro_AF_popmax=0.2012;non_cancer_AF_popmax=.;controls_AF_popmax=0.1972;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939231|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.699444;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 +1 237205759 rs578020342 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=7091;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=RYR2;GeneDetail.refGene=NM_001035:c.-63G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs578020342;CLNALLELEID=280279;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.442588;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237205892 rs376110883 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=9205;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376110883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0112;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=0.0013;AF_popmax=0.0024;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0014;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0006274;Kaviar_AC=97;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000022413|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.662651;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237519165 rs10925382 G T 100 PASS AC=53;AF=0.186901;AN=214;NS=2504;DP=18255;EAS_AF=0.372;AMR_AF=0.2133;AFR_AF=0.1074;EUR_AF=0.2018;SAS_AF=0.0695;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2001;AF_popmax=0.3731;AF_male=0.1959;AF_female=0.2055;AF_raw=0.2001;AF_afr=0.1191;AF_sas=.;AF_amr=0.2087;AF_eas=0.3731;AF_nfe=0.2223;AF_fin=0.2272;AF_asj=0.1319;AF_oth=0.2132;non_topmed_AF_popmax=0.3719;non_neuro_AF_popmax=0.3731;non_cancer_AF_popmax=.;controls_AF_popmax=0.3758;Kaviar_AF=0.0393527;Kaviar_AC=6084;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.947334;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 +1 237527551 rs114016617 A G 100 PASS AC=8;AF=0.0103834;AN=214;NS=2504;DP=14843;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0276;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114016617;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0114;AF_popmax=0.0183;AF_male=0.0115;AF_female=0.0114;AF_raw=0.0115;AF_afr=0.0028;AF_sas=.;AF_amr=0.0120;AF_eas=0;AF_nfe=0.0183;AF_fin=0.0075;AF_asj=0.0243;AF_oth=0.0083;non_topmed_AF_popmax=0.0180;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;Kaviar_AF=0.00326;Kaviar_AC=504;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.889333;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237532763 rs17681893 T G 100 PASS AC=3;AF=0.0189696;AN=214;NS=2504;DP=19125;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0151;EUR_AF=0.0477;SAS_AF=0.0143;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17681893;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0353;AF_popmax=0.0414;AF_male=0.0349;AF_female=0.0358;AF_raw=0.0353;AF_afr=0.0171;AF_sas=.;AF_amr=0.0224;AF_eas=0.0006;AF_nfe=0.0414;AF_fin=0.0671;AF_asj=0.0448;AF_oth=0.0487;non_topmed_AF_popmax=0.0425;non_neuro_AF_popmax=0.0413;non_cancer_AF_popmax=.;controls_AF_popmax=0.0406;Kaviar_AF=0.0057955;Kaviar_AC=896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237532860 rs536426427 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18612;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon6:c.A336G:p.T112T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536426427;CLNALLELEID=238234;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0026;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910213;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 237532996 rs534251203 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19834;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534251203;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.371e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.744476;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +1 237540615 rs10925391 A C 100 PASS AC=55;AF=0.362819;AN=214;NS=2504;DP=17859;EAS_AF=0.4315;AMR_AF=0.3429;AFR_AF=0.5484;EUR_AF=0.2366;SAS_AF=0.1851;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.362819;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925391;CLNALLELEID=52959;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.2293;ExAC_nontcga_ALL=0.3060;ExAC_nontcga_AFR=0.5111;ExAC_nontcga_AMR=0.3819;ExAC_nontcga_EAS=0.4512;ExAC_nontcga_FIN=0.3758;ExAC_nontcga_NFE=0.2500;ExAC_nontcga_OTH=0.3248;ExAC_nontcga_SAS=0.2280;AF=0.3453;AF_popmax=0.5062;AF_male=0.3426;AF_female=0.3486;AF_raw=0.3454;AF_afr=0.5062;AF_sas=.;AF_amr=0.3050;AF_eas=0.4300;AF_nfe=0.2506;AF_fin=0.3566;AF_asj=0.1931;AF_oth=0.3149;non_topmed_AF_popmax=0.5050;non_neuro_AF_popmax=0.5146;non_cancer_AF_popmax=.;controls_AF_popmax=0.5090;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.244447;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 1|1 0|1 0|1 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 +1 237551298 rs546595506 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546595506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.869764;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237551376 rs10754602 T A 100 PASS AC=120;AF=0.55651;AN=214;NS=2504;DP=19909;EAS_AF=0.6458;AMR_AF=0.7421;AFR_AF=0.4697;EUR_AF=0.5716;SAS_AF=0.4346;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.55651;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10754602;CLNALLELEID=52986;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.5597;ExAC_nontcga_ALL=0.5759;ExAC_nontcga_AFR=0.4627;ExAC_nontcga_AMR=0.7863;ExAC_nontcga_EAS=0.6438;ExAC_nontcga_FIN=0.5519;ExAC_nontcga_NFE=0.5723;ExAC_nontcga_OTH=0.5542;ExAC_nontcga_SAS=0.4784;AF=0.5328;AF_popmax=0.7464;AF_male=0.5298;AF_female=0.5366;AF_raw=0.5327;AF_afr=0.4652;AF_sas=.;AF_amr=0.7464;AF_eas=0.6116;AF_nfe=0.5469;AF_fin=0.5446;AF_asj=0.5104;AF_oth=0.5646;non_topmed_AF_popmax=0.7457;non_neuro_AF_popmax=0.7273;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.558725;Kaviar_AC=86380;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.787306;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 1|1 0|1 1|0 1|0 0|1 1|0 1|0 1|1 0|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 0|1 0|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 1|1 1|1 0|0 1|1 1|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|0 0|1 1|1 1|1 1|0 0|1 0|0 1|0 0|0 1|0 +1 237586384 rs16835237 T C 100 PASS AC=24;AF=0.170128;AN=214;NS=2504;DP=18509;EAS_AF=0.3135;AMR_AF=0.2666;AFR_AF=0.0635;EUR_AF=0.0964;SAS_AF=0.1738;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835237;CLNALLELEID=53003;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0985;ExAC_nontcga_ALL=0.1448;ExAC_nontcga_AFR=0.0684;ExAC_nontcga_AMR=0.3255;ExAC_nontcga_EAS=0.2693;ExAC_nontcga_FIN=0.0942;ExAC_nontcga_NFE=0.1022;ExAC_nontcga_OTH=0.1366;ExAC_nontcga_SAS=0.1630;AF=0.0976;AF_popmax=0.2950;AF_male=0.1002;AF_female=0.0944;AF_raw=0.0976;AF_afr=0.0658;AF_sas=.;AF_amr=0.2606;AF_eas=0.2950;AF_nfe=0.0876;AF_fin=0.0881;AF_asj=0.0793;AF_oth=0.1204;non_topmed_AF_popmax=0.2931;non_neuro_AF_popmax=0.2950;non_cancer_AF_popmax=.;controls_AF_popmax=0.3114;Kaviar_AF=0.13527;Kaviar_AC=20913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.727925;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237586449 rs569242793 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18348;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon12:c.A906T:p.T302T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569242793;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.890199;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +1 237608663 rs181315408 A G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18328;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181315408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.486e-05;AF_male=0;AF_female=7.186e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237608842 rs182050281 C T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=17805;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182050281;CLNALLELEID=142641;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=0.0083;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0253;AF=0.0045;AF_popmax=0.0075;AF_male=0.0042;AF_female=0.0050;AF_raw=0.0045;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0014;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0074;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0078718;Kaviar_AC=1217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.417798;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237617757 rs3765097 C T 100 PASS AC=125;AF=0.535743;AN=214;NS=2504;DP=17132;EAS_AF=0.7391;AMR_AF=0.5447;AFR_AF=0.2769;EUR_AF=0.5994;SAS_AF=0.6043;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;1000g2015aug_all=0.535743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3765097;CLNALLELEID=52897;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6005;ExAC_nontcga_ALL=0.5760;ExAC_nontcga_AFR=0.3027;ExAC_nontcga_AMR=0.6021;ExAC_nontcga_EAS=0.7342;ExAC_nontcga_FIN=0.5985;ExAC_nontcga_NFE=0.5917;ExAC_nontcga_OTH=0.5828;ExAC_nontcga_SAS=0.5627;AF=0.5239;AF_popmax=0.7094;AF_male=0.5206;AF_female=0.5280;AF_raw=0.5237;AF_afr=0.3179;AF_sas=.;AF_amr=0.5853;AF_eas=0.7094;AF_nfe=0.5983;AF_fin=0.5907;AF_asj=0.6042;AF_oth=0.5699;non_topmed_AF_popmax=0.7107;non_neuro_AF_popmax=0.7094;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.695180;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 0|1 1|1 0|0 +1 237619875 rs538388690;rs538388690;rs575563420;rs546922577;rs567712702 ATT ATTT,ATTTT,AT,A 100 PASS AC=91,1,50,1;AF=0.417332,0.0239617,0.257588,0.0127796;AN=214;NS=2504;DP=19875;EAS_AF=0.5069,0.0675,0.2103,0.003;AMR_AF=0.415,0.0043,0.3084,0.0101;AFR_AF=0.3381,0.0174,0.3162,0.028;EUR_AF=0.4433,0.002,0.2376,0.004;SAS_AF=0.407,0.0245,0.2117,0.0133;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567712702;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0203;ExAC_nontcga_AFR=0.0273;ExAC_nontcga_AMR=0.0295;ExAC_nontcga_EAS=0.0132;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0166;ExAC_nontcga_OTH=0.0211;ExAC_nontcga_SAS=0.0317;AF=0.0012;AF_popmax=0.0058;AF_male=0.0016;AF_female=0.0006;AF_raw=0.0028;AF_afr=0.0005;AF_sas=.;AF_amr=0.0058;AF_eas=0.0007;AF_nfe=0.0006;AF_fin=0.0055;AF_asj=0.0037;AF_oth=0.0011;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0063;Kaviar_AF=0.000414;Kaviar_AC=64;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923485;ALLELE_END;VINYL_score=1 GT 3|1 3|0 0|3 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|3 0|3 1|1 0|1 1|3 0|1 0|0 3|3 3|1 0|0 1|0 0|1 1|1 0|3 3|1 0|3 1|0 3|3 0|1 0|1 0|1 3|1 0|0 0|1 0|1 0|3 1|0 3|3 1|1 1|1 0|1 1|3 3|3 1|2 0|3 3|1 3|1 0|1 3|3 0|1 1|3 3|1 0|1 1|0 1|0 0|3 1|0 1|0 1|3 1|0 0|1 0|1 0|1 0|1 1|3 1|3 3|0 0|1 1|0 3|1 1|3 0|3 1|0 1|0 1|0 0|3 1|1 0|3 0|1 0|1 1|0 3|0 1|0 1|0 3|4 1|3 0|1 3|1 1|3 1|0 0|1 0|3 0|1 1|0 0|1 3|1 3|1 0|1 1|0 1|3 3|1 0|1 0|1 0|1 3|1 1|0 0|3 +1 237619971 rs146129084 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon16:c.T1548C:p.D516D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146129084;CLNALLELEID=52920;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.973e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.104e-05;AF=0.0004;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004398;Kaviar_AC=68;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.524418;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237620049 rs2045955 T C 100 PASS AC=118;AF=0.53115;AN=214;NS=2504;DP=18474;EAS_AF=0.7788;AMR_AF=0.5245;AFR_AF=0.2716;EUR_AF=0.5596;SAS_AF=0.6022;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.53115;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2045955;CLNALLELEID=52921;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5441;ExAC_nontcga_ALL=0.5534;ExAC_nontcga_AFR=0.2906;ExAC_nontcga_AMR=0.5912;ExAC_nontcga_EAS=0.7975;ExAC_nontcga_FIN=0.5796;ExAC_nontcga_NFE=0.5456;ExAC_nontcga_OTH=0.5569;ExAC_nontcga_SAS=0.5619;AF=0.4982;AF_popmax=0.7841;AF_male=0.4972;AF_female=0.4995;AF_raw=0.4975;AF_afr=0.3098;AF_sas=.;AF_amr=0.5628;AF_eas=0.7841;AF_nfe=0.5515;AF_fin=0.5666;AF_asj=0.5729;AF_oth=0.5552;non_topmed_AF_popmax=0.7860;non_neuro_AF_popmax=0.7841;non_cancer_AF_popmax=.;controls_AF_popmax=0.7840;Kaviar_AF=0.542658;Kaviar_AC=83896;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072911;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|0 1|0 0|0 0|1 1|0 0|1 1|0 0|0 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 0|1 0|1 1|1 0|1 1|1 0|0 +1 237620108 rs527873096 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17710;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527873096;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237632512 rs116528666 T C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=13326;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116528666;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0081;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=6.4e-05;AF=0.0052;AF_popmax=0.0079;AF_male=0.0054;AF_female=0.0051;AF_raw=0.0053;AF_afr=0.0021;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0031;AF_asj=0.0069;AF_oth=0.0075;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0077;non_cancer_AF_popmax=.;controls_AF_popmax=0.0050;Kaviar_AF=0.0050581;Kaviar_AC=782;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237632514 rs571478539 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571478539;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655057 rs146351607 C T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17515;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146351607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0014;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.435834;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655173 rs72549414 A T 100 PASS AC=8;AF=0.0215655;AN=214;NS=2504;DP=16301;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0454;EUR_AF=0.0258;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon18:c.A1776T:p.G592G;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549414;CLNALLELEID=52922;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0180;ExAC_nontcga_ALL=0.0279;ExAC_nontcga_AFR=0.0629;ExAC_nontcga_AMR=0.0367;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0450;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0080;AF=0.0273;AF_popmax=0.0407;AF_male=0.0270;AF_female=0.0277;AF_raw=0.0274;AF_afr=0.0407;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0228;AF_fin=0.0288;AF_asj=0.0034;AF_oth=0.0257;non_topmed_AF_popmax=0.0405;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0401;Kaviar_AF=0.0136544;Kaviar_AC=2111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.835212;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237655267 rs188369875 T C 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=16724;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188369875;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0178;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0016;AF=0.0093;AF_popmax=0.0129;AF_male=0.0100;AF_female=0.0085;AF_raw=0.0093;AF_afr=0.0029;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0129;AF_fin=0.0144;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.462747;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237656185 rs185840210 A G 100 PASS AC=80;AF=0.396565;AN=214;NS=2504;DP=7268;EAS_AF=0.3343;AMR_AF=0.3329;AFR_AF=0.5189;EUR_AF=0.333;SAS_AF=0.4059;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.396565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185840210;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0016;AF_male=0.0006;AF_female=0.0004;AF_raw=0.0024;AF_afr=0.0015;AF_sas=.;AF_amr=0.0016;AF_eas=0;AF_nfe=9.889e-05;AF_fin=0.0003;AF_asj=0.0059;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 0|0 1|0 0|1 1|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 +1 237656289 rs17686573 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon19:c.C1863T:p.H621H;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17686573;CLNALLELEID=45398;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0013;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0023;AF=0.0034;AF_popmax=0.0059;AF_male=0.0033;AF_female=0.0037;AF_raw=0.0034;AF_afr=0.0016;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0048124;Kaviar_AC=744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.931995;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +1 237664004 rs147479514 C G 100 PASS AC=5;AF=0.00459265;AN=214;NS=2504;DP=19198;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147479514;CLNALLELEID=45399;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0039;dbscSNV_RF_SCORE=0.1;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0101;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0289;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0067;AF=0.0126;AF_popmax=0.0180;AF_male=0.0114;AF_female=0.0141;AF_raw=0.0126;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0273;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0186;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0090555;Kaviar_AC=1400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.334388;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237670140 rs2618702 A G 100 PASS AC=143;AF=0.699481;AN=214;NS=2504;DP=17642;EAS_AF=0.7272;AMR_AF=0.6182;AFR_AF=0.8563;EUR_AF=0.6779;SAS_AF=0.5389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.699481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2618702;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6578;ExAC_nontcga_ALL=0.6782;ExAC_nontcga_AFR=0.8383;ExAC_nontcga_AMR=0.6525;ExAC_nontcga_EAS=0.7152;ExAC_nontcga_FIN=0.7363;ExAC_nontcga_NFE=0.6666;ExAC_nontcga_OTH=0.6897;ExAC_nontcga_SAS=0.6051;AF=0.7216;AF_popmax=0.8341;AF_male=0.7193;AF_female=0.7245;AF_raw=0.7217;AF_afr=0.8341;AF_sas=.;AF_amr=0.6064;AF_eas=0.7202;AF_nfe=0.6675;AF_fin=0.7343;AF_asj=0.5621;AF_oth=0.6808;non_topmed_AF_popmax=0.8342;non_neuro_AF_popmax=0.8422;non_cancer_AF_popmax=.;controls_AF_popmax=0.8459;Kaviar_AF=0.653497;Kaviar_AC=101032;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939271|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757939;ALLELE_END;VINYL_score=2 GT 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 1|0 1|1 0|0 1|1 0|1 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|0 0|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 0|1 1|0 1|1 1|0 1|0 0|1 1|0 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|0 0|1 +1 237670190 rs546767501 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19092;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546767501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=6.484e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939271|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.734137;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +1 237675150 rs57409517 A AG 100 PASS AC=55;AF=0.343251;AN=214;NS=2504;DP=18112;EAS_AF=0.2738;AMR_AF=0.1931;AFR_AF=0.6067;EUR_AF=0.2306;SAS_AF=0.2812;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.343251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57409517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2181;AF_popmax=0.3940;AF_male=0.2217;AF_female=0.2136;AF_raw=0.2133;AF_afr=0.3940;AF_sas=.;AF_amr=0.1244;AF_eas=0.1299;AF_nfe=0.1630;AF_fin=0.0938;AF_asj=0.1679;AF_oth=0.1632;non_topmed_AF_popmax=0.3932;non_neuro_AF_popmax=0.3949;non_cancer_AF_popmax=.;controls_AF_popmax=0.3958;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 0|0 +1 237675152 rs537115725 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18080;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537115725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0080;AF_male=0.0049;AF_female=0.0054;AF_raw=0.0053;AF_afr=0.0011;AF_sas=.;AF_amr=0.0025;AF_eas=0.0006;AF_nfe=0.0080;AF_fin=0.0054;AF_asj=0;AF_oth=0.0049;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0078;non_cancer_AF_popmax=.;controls_AF_popmax=0.0086;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237675163 rs67622164 G A 100 PASS AC=81;AF=0.295327;AN=214;NS=2504;DP=15444;EAS_AF=0.4901;AMR_AF=0.3386;AFR_AF=0.0325;EUR_AF=0.4324;SAS_AF=0.2781;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.295327;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67622164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3311;AF_popmax=0.5066;AF_male=0.3264;AF_female=0.3372;AF_raw=0.3286;AF_afr=0.0759;AF_sas=.;AF_amr=0.3668;AF_eas=0.5066;AF_nfe=0.4259;AF_fin=0.4880;AF_asj=0.3392;AF_oth=0.3926;non_topmed_AF_popmax=0.5067;non_neuro_AF_popmax=0.5066;non_cancer_AF_popmax=.;controls_AF_popmax=0.5168;Kaviar_AF=0.3502;Kaviar_AC=9115;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491355|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 0|1 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 1|1 0|1 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|1 +1 237693662 rs114356013 C T 100 PASS AC=3;AF=0.0323482;AN=214;NS=2504;DP=17382;EAS_AF=0.0556;AMR_AF=0.0533;AFR_AF=0.0386;EUR_AF=0.0099;SAS_AF=0.0082;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114356013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0236;AF_popmax=0.0492;AF_male=0.0246;AF_female=0.0222;AF_raw=0.0235;AF_afr=0.0492;AF_sas=.;AF_amr=0.0308;AF_eas=0.0360;AF_nfe=0.0096;AF_fin=0.0159;AF_asj=0.0069;AF_oth=0.0222;non_topmed_AF_popmax=0.0492;non_neuro_AF_popmax=0.0464;non_cancer_AF_popmax=.;controls_AF_popmax=0.0440;Kaviar_AF=0.0004995;Kaviar_AC=13;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237711797 rs2253273 A G 100 PASS AC=201;AF=0.830272;AN=214;NS=2504;DP=19444;EAS_AF=0.872;AMR_AF=0.951;AFR_AF=0.5378;EUR_AF=0.9583;SAS_AF=0.9652;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;1000g2015aug_all=0.830272;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253273;CLNALLELEID=52932;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9585;ExAC_nontcga_ALL=0.9262;ExAC_nontcga_AFR=0.5982;ExAC_nontcga_AMR=0.9583;ExAC_nontcga_EAS=0.8824;ExAC_nontcga_FIN=0.9710;ExAC_nontcga_NFE=0.9592;ExAC_nontcga_OTH=0.9477;ExAC_nontcga_SAS=0.9662;AF=0.8538;AF_popmax=0.9564;AF_male=0.8480;AF_female=0.8610;AF_raw=0.8535;AF_afr=0.5950;AF_sas=.;AF_amr=0.9409;AF_eas=0.8817;AF_nfe=0.9564;AF_fin=0.9770;AF_asj=0.9621;AF_oth=0.9357;non_topmed_AF_popmax=0.9592;non_neuro_AF_popmax=0.9557;non_cancer_AF_popmax=.;controls_AF_popmax=0.9602;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.734657;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237730059 rs72549415 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=18874;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon28:c.C3407T:p.A1136V;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549415;CLNALLELEID=52939;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.771;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.388;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_converted_rankscore=0.401;MutationTaster_pred=D;MutationAssessor_score=-0.29;MutationAssessor_score_rankscore=0.037;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=1.28;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.078;VEST3_rankscore=0.069;MetaSVM_score=-0.963;MetaSVM_rankscore=0.386;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.309;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.658;CADD_raw_rankscore=0.381;CADD_phred=20.6;DANN_score=0.896;DANN_rankscore=0.183;fathmm-MKL_coding_score=0.723;fathmm-MKL_coding_rankscore=0.351;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.336;Eigen-PC-raw=-0.062;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=4.016;phyloP100way_vertebrate_rankscore=0.566;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=6.897;SiPhy_29way_logOdds_rankscore=0.233;Interpro_domain=B30.2/SPRY_domain|Concanavalin_A-like_lectin/glucanase_domain|SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0051;ExAC_nontcga_NFE=0.0112;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0010;AF=0.0086;AF_popmax=0.0143;AF_male=0.0077;AF_female=0.0096;AF_raw=0.0086;AF_afr=0.0023;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0046;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0174;Kaviar_AF=0.0074579;Kaviar_AC=1153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1710412|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.926699;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237730124 rs2805390 A G 100 PASS AC=205;AF=0.905551;AN=214;NS=2504;DP=20171;EAS_AF=0.999;AMR_AF=0.9697;AFR_AF=0.702;EUR_AF=0.9712;SAS_AF=0.9714;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.905551;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805390;CLNALLELEID=249820;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9754;ExAC_nontcga_ALL=0.9576;ExAC_nontcga_AFR=0.7411;ExAC_nontcga_AMR=0.9774;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9782;ExAC_nontcga_NFE=0.9734;ExAC_nontcga_OTH=0.9622;ExAC_nontcga_SAS=0.9747;AF=0.9111;AF_popmax=1;AF_male=0.9088;AF_female=0.9139;AF_raw=0.9109;AF_afr=0.7465;AF_sas=.;AF_amr=0.9658;AF_eas=1;AF_nfe=0.9705;AF_fin=0.9830;AF_asj=0.9828;AF_oth=0.9632;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.932155;Kaviar_AC=144113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1710412|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237732395 rs2805396 G A 100 PASS AC=150;AF=0.492812;AN=214;NS=2504;DP=16891;EAS_AF=0.2619;AMR_AF=0.7176;AFR_AF=0.2443;EUR_AF=0.6978;SAS_AF=0.6963;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.492812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805396;CLNALLELEID=249821;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7105;ExAC_nontcga_ALL=0.6425;ExAC_nontcga_AFR=0.3112;ExAC_nontcga_AMR=0.7441;ExAC_nontcga_EAS=0.2711;ExAC_nontcga_FIN=0.6575;ExAC_nontcga_NFE=0.7160;ExAC_nontcga_OTH=0.6724;ExAC_nontcga_SAS=0.6767;AF=0.5703;AF_popmax=0.7082;AF_male=0.5637;AF_female=0.5787;AF_raw=0.5699;AF_afr=0.3145;AF_sas=.;AF_amr=0.7009;AF_eas=0.2332;AF_nfe=0.7082;AF_fin=0.6713;AF_asj=0.7862;AF_oth=0.6621;non_topmed_AF_popmax=0.7086;non_neuro_AF_popmax=0.7079;non_cancer_AF_popmax=.;controls_AF_popmax=0.7094;Kaviar_AF=0.621635;Kaviar_AC=96106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.925715;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 1|0 0|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 +1 237732617 rs149760466 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19418;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon29:c.A3596G:p.D1199G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149760466;CLNALLELEID=52942;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.026;SIFT_converted_rankscore=0.469;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.305;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=D;MutationAssessor_score=0.875;MutationAssessor_score_rankscore=0.216;MutationAssessor_pred=L;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.966;FATHMM_pred=T;PROVEAN_score=-4.03;PROVEAN_converted_rankscore=0.743;PROVEAN_pred=D;VEST3_score=0.365;VEST3_rankscore=0.625;MetaSVM_score=-0.882;MetaSVM_rankscore=0.496;MetaSVM_pred=T;MetaLR_score=0.196;MetaLR_rankscore=0.551;MetaLR_pred=T;M-CAP_score=0.073;M-CAP_rankscore=0.718;M-CAP_pred=D;REVEL_score=0.355;REVEL_rankscore=0.680;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.237;CADD_raw_rankscore=0.568;CADD_phred=23.9;DANN_score=0.997;DANN_rankscore=0.771;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.743;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.098;Eigen-PC-raw=0.075;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.409;integrated_fitCons_score=0.578;integrated_fitCons_score_rankscore=0.323;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=6.249;phyloP100way_vertebrate_rankscore=0.722;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.282;phastCons20way_mammalian_rankscore=0.234;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=B30.2/SPRY_domain|Concanavalin_A-like_lectin/glucanase_domain|SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.3523;dbscSNV_RF_SCORE=0.482;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.072e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.081e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.870532;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237732673 rs12740534 C T 100 PASS AC=1;AF=0.0197684;AN=214;NS=2504;DP=18210;EAS_AF=0;AMR_AF=0.0692;AFR_AF=0.0023;EUR_AF=0.0417;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12740534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0358;AF_popmax=0.0638;AF_male=0.0350;AF_female=0.0369;AF_raw=0.0359;AF_afr=0.0098;AF_sas=.;AF_amr=0.0638;AF_eas=0.0006;AF_nfe=0.0506;AF_fin=0.0412;AF_asj=0.0345;AF_oth=0.0470;non_topmed_AF_popmax=0.0668;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0083958;Kaviar_AC=1298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237732684 rs192903568 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18287;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192903568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237753074 rs541735679;rs371111802 AT ATT,A 100 PASS AC=1,90;AF=0.00299521,0.285144;AN=214;NS=2504;DP=19245;EAS_AF=0,0.2659;AMR_AF=0,0.5072;AFR_AF=0.0091,0.0499;EUR_AF=0.001,0.4573;SAS_AF=0.002,0.2883;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.178351;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.285144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11331089;CLNALLELEID=45402;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4430;ExAC_nontcga_ALL=0.4632;ExAC_nontcga_AFR=0.1489;ExAC_nontcga_AMR=0.6449;ExAC_nontcga_EAS=0.3432;ExAC_nontcga_FIN=0.5085;ExAC_nontcga_NFE=0.4997;ExAC_nontcga_OTH=0.4965;ExAC_nontcga_SAS=0.3795;AF=0.3543;AF_popmax=0.5408;AF_male=0.3506;AF_female=0.3589;AF_raw=0.3517;AF_afr=0.1239;AF_sas=.;AF_amr=0.5408;AF_eas=0.2526;AF_nfe=0.4491;AF_fin=0.4812;AF_asj=0.4410;AF_oth=0.4263;non_topmed_AF_popmax=0.5465;non_neuro_AF_popmax=0.5221;non_cancer_AF_popmax=.;controls_AF_popmax=0.5294;Kaviar_AF=0.012005;Kaviar_AC=1856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.178351;ALLELE_END;VINYL_score=1 GT 0|2 2|0 0|2 2|0 2|2 0|0 2|0 2|0 0|2 2|2 2|0 0|0 0|0 0|0 2|0 0|0 2|2 2|2 0|0 2|0 0|0 2|0 0|2 2|0 0|0 2|0 0|2 2|2 2|0 2|0 0|2 0|2 0|0 2|2 2|2 0|2 0|2 2|0 0|0 2|2 0|0 0|2 0|0 0|0 0|2 2|2 2|0 2|0 0|2 2|0 0|2 2|0 0|0 0|0 0|2 2|0 2|2 0|0 0|2 0|2 0|0 0|0 0|2 0|0 2|2 2|0 2|0 0|0 0|0 2|0 2|1 2|0 0|2 2|0 0|0 0|2 2|2 0|2 0|2 2|2 0|0 0|0 0|2 2|0 0|0 0|0 2|0 2|0 2|2 2|2 2|0 0|2 2|0 0|0 0|2 0|0 0|2 2|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 2|2 2|0 +1 237753364 rs2805409 A C 100 PASS AC=101;AF=0.336861;AN=214;NS=2504;DP=17963;EAS_AF=0.3105;AMR_AF=0.5375;AFR_AF=0.1437;EUR_AF=0.4901;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.336861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2805409;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4002;AF_popmax=0.5687;AF_male=0.3986;AF_female=0.4023;AF_raw=0.4003;AF_afr=0.1977;AF_sas=.;AF_amr=0.5687;AF_eas=0.2888;AF_nfe=0.4881;AF_fin=0.4977;AF_asj=0.4621;AF_oth=0.4797;non_topmed_AF_popmax=0.5757;non_neuro_AF_popmax=0.5525;non_cancer_AF_popmax=.;controls_AF_popmax=0.5451;Kaviar_AF=0.0869329;Kaviar_AC=13440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237754020 rs373721253 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon31:c.C3888T:p.N1296N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373721253;CLNALLELEID=142646;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0011;AF=0.0004;AF_popmax=0.0009;AF_male=0.0004;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000705;Kaviar_AC=109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898378;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237754340 rs1332777 A G 100 PASS AC=100;AF=0.33746;AN=214;NS=2504;DP=10387;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1332777;CLNALLELEID=249823;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4731;ExAC_nontcga_ALL=0.4477;ExAC_nontcga_AFR=0.1896;ExAC_nontcga_AMR=0.6327;ExAC_nontcga_EAS=0.3245;ExAC_nontcga_FIN=0.5085;ExAC_nontcga_NFE=0.4852;ExAC_nontcga_OTH=0.5229;ExAC_nontcga_SAS=0.3494;AF=0.3968;AF_popmax=0.5657;AF_male=0.3953;AF_female=0.3988;AF_raw=0.3943;AF_afr=0.1944;AF_sas=.;AF_amr=0.5657;AF_eas=0.2853;AF_nfe=0.4849;AF_fin=0.4974;AF_asj=0.4577;AF_oth=0.4791;non_topmed_AF_popmax=0.5725;non_neuro_AF_popmax=0.55;non_cancer_AF_popmax=.;controls_AF_popmax=0.5410;Kaviar_AF=0.407239;Kaviar_AC=62960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237754963 rs112387072 A G 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=21277;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.0082;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112387072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0179;AF_popmax=0.0275;AF_male=0.0173;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0275;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0038033;Kaviar_AC=588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237755076 rs56229512 A G 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=19481;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.0082;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon32:c.A4198G:p.S1400G;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56229512;CLNALLELEID=52951;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_converted_rankscore=0.284;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.046;LRT_converted_rankscore=0.235;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.247;MutationTaster_pred=N;MutationAssessor_score=1.9;MutationAssessor_score_rankscore=0.507;MutationAssessor_pred=L;FATHMM_score=-4.09;FATHMM_converted_rankscore=0.966;FATHMM_pred=D;PROVEAN_score=-1.63;PROVEAN_converted_rankscore=0.391;PROVEAN_pred=N;VEST3_score=0.106;VEST3_rankscore=0.112;MetaSVM_score=-0.170;MetaSVM_rankscore=0.784;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.769;CADD_raw_rankscore=0.274;CADD_phred=14.81;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.624;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.430;Eigen-PC-raw=-0.270;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.078;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=3.543;phyloP100way_vertebrate_rankscore=0.531;phyloP20way_mammalian=0.233;phyloP20way_mammalian_rankscore=0.259;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.863;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=9.989;SiPhy_29way_logOdds_rankscore=0.408;Interpro_domain=B30.2/SPRY_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0218;ExAC_nontcga_ALL=0.0182;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0237;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0175;ExAC_nontcga_SAS=0.0155;AF=0.0179;AF_popmax=0.0275;AF_male=0.0173;AF_female=0.0187;AF_raw=0.0179;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0275;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0276;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0274;Kaviar_AF=0.0174319;Kaviar_AC=2695;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848202;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237755188 rs2618713 C T 100 PASS AC=100;AF=0.335863;AN=214;NS=2504;DP=18584;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.317;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335863;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2618713;CLNALLELEID=249824;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4748;ExAC_nontcga_ALL=0.4607;ExAC_nontcga_AFR=0.2106;ExAC_nontcga_AMR=0.6445;ExAC_nontcga_EAS=0.3609;ExAC_nontcga_FIN=0.5288;ExAC_nontcga_NFE=0.5113;ExAC_nontcga_OTH=0.4953;ExAC_nontcga_SAS=0.3592;AF=0.3991;AF_popmax=0.5638;AF_male=0.3980;AF_female=0.4004;AF_raw=0.3990;AF_afr=0.1985;AF_sas=.;AF_amr=0.5638;AF_eas=0.2886;AF_nfe=0.4863;AF_fin=0.4957;AF_asj=0.4586;AF_oth=0.4779;non_topmed_AF_popmax=0.5705;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5287;Kaviar_AF=0.409678;Kaviar_AC=63337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237755203 rs2779430 T C 100 PASS AC=100;AF=0.33746;AN=214;NS=2504;DP=18560;EAS_AF=0.3105;AMR_AF=0.5403;AFR_AF=0.1437;EUR_AF=0.4911;SAS_AF=0.3252;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2779430;CLNALLELEID=249825;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4624;ExAC_nontcga_ALL=0.4294;ExAC_nontcga_AFR=0.1988;ExAC_nontcga_AMR=0.6068;ExAC_nontcga_EAS=0.3303;ExAC_nontcga_FIN=0.5131;ExAC_nontcga_NFE=0.4854;ExAC_nontcga_OTH=0.4822;ExAC_nontcga_SAS=0.3559;AF=0.4009;AF_popmax=0.5684;AF_male=0.3992;AF_female=0.4031;AF_raw=0.4010;AF_afr=0.1994;AF_sas=.;AF_amr=0.5684;AF_eas=0.2879;AF_nfe=0.4886;AF_fin=0.4971;AF_asj=0.4621;AF_oth=0.4816;non_topmed_AF_popmax=0.5753;non_neuro_AF_popmax=0.5505;non_cancer_AF_popmax=.;controls_AF_popmax=0.5406;Kaviar_AF=0.401948;Kaviar_AC=62142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237759023 rs547986065 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20563;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547986065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.913877;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237765458 rs538090636 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15778;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538090636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237765470 rs791541 A T 100 PASS AC=96;AF=0.293131;AN=214;NS=2504;DP=15916;EAS_AF=0.2659;AMR_AF=0.5245;AFR_AF=0.0507;EUR_AF=0.4771;SAS_AF=0.2955;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.293131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs791541;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4598;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3673;AF_popmax=0.5486;AF_male=0.3630;AF_female=0.3727;AF_raw=0.3673;AF_afr=0.1255;AF_sas=.;AF_amr=0.5486;AF_eas=0.2477;AF_nfe=0.4713;AF_fin=0.4882;AF_asj=0.4483;AF_oth=0.4513;non_topmed_AF_popmax=0.5534;non_neuro_AF_popmax=0.5327;non_cancer_AF_popmax=.;controls_AF_popmax=0.5203;Kaviar_AF=0.0832589;Kaviar_AC=12872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 1|0 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 0|0 1|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|1 1|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 +1 237774017 rs139669911 A G 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=18675;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139669911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0078;ExAC_nontcga_SAS=0.0052;AF=0.0038;AF_popmax=0.0059;AF_male=0.0038;AF_female=0.0037;AF_raw=0.0038;AF_afr=0.0014;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0020;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.185930;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237778082 rs41315858 G A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=19171;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0368;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5654A:p.G1885E;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315858;CLNALLELEID=45407;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.886;SIFT_converted_rankscore=0.025;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.755;LRT_converted_rankscore=0.097;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.228;MutationTaster_pred=N;MutationAssessor_score=0.605;MutationAssessor_score_rankscore=0.157;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=0.55;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.092;MetaSVM_score=-0.943;MetaSVM_rankscore=0.421;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.105;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.771;CADD_raw_rankscore=0.011;CADD_phred=0.002;DANN_score=0.496;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_rankscore=0.088;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.479;Eigen-PC-raw=-1.448;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.077;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=-2.35;GERP++_RS_rankscore=0.063;phyloP100way_vertebrate=0.388;phyloP100way_vertebrate_rankscore=0.203;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.048;phastCons100way_vertebrate_rankscore=0.211;phastCons20way_mammalian=0.565;phastCons20way_mammalian_rankscore=0.282;SiPhy_29way_logOdds=2.768;SiPhy_29way_logOdds_rankscore=0.050;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0234;ExAC_nontcga_ALL=0.0143;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0127;ExAC_nontcga_NFE=0.0232;ExAC_nontcga_OTH=0.0166;ExAC_nontcga_SAS=0.0019;AF=0.0177;AF_popmax=0.0282;AF_male=0.0162;AF_female=0.0195;AF_raw=0.0177;AF_afr=0.0039;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0158;AF_asj=0.0034;AF_oth=0.0175;non_topmed_AF_popmax=0.0270;non_neuro_AF_popmax=0.0288;non_cancer_AF_popmax=.;controls_AF_popmax=0.0241;Kaviar_AF=0.0164163;Kaviar_AC=2538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715638;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237778084 rs3766871 G A 100 PASS AC=7;AF=0.076278;AN=214;NS=2504;DP=19105;EAS_AF=0.0635;AMR_AF=0.0303;AFR_AF=0.1551;EUR_AF=0.0268;SAS_AF=0.0665;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5656A:p.G1886S;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3766871;CLNALLELEID=45408;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.335;SIFT_converted_rankscore=0.129;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.202;LRT_converted_rankscore=0.166;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_score_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.133;VEST3_rankscore=0.153;MetaSVM_score=-1.096;MetaSVM_rankscore=0.046;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.814;CADD_raw_rankscore=0.172;CADD_phred=9.551;DANN_score=0.953;DANN_rankscore=0.261;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.628;Eigen-PC-raw=-0.532;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=4.8;GERP++_RS_rankscore=0.610;phyloP100way_vertebrate=3.448;phyloP100way_vertebrate_rankscore=0.525;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.325;phastCons100way_vertebrate_rankscore=0.253;phastCons20way_mammalian=0.422;phastCons20way_mammalian_rankscore=0.258;SiPhy_29way_logOdds=18.064;SiPhy_29way_logOdds_rankscore=0.893;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0311;ExAC_nontcga_ALL=0.0443;ExAC_nontcga_AFR=0.1420;ExAC_nontcga_AMR=0.0175;ExAC_nontcga_EAS=0.0803;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0308;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0492;AF=0.0611;AF_popmax=0.1413;AF_male=0.0606;AF_female=0.0617;AF_raw=0.0611;AF_afr=0.1413;AF_sas=.;AF_amr=0.0307;AF_eas=0.0847;AF_nfe=0.0262;AF_fin=0.0265;AF_asj=0.0138;AF_oth=0.0276;non_topmed_AF_popmax=0.1413;non_neuro_AF_popmax=0.1384;non_cancer_AF_popmax=.;controls_AF_popmax=0.1420;Kaviar_AF=0.0419917;Kaviar_AC=6492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715638;ALLELE_END;VINYL_score=2.5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237780803 rs551201970 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20992;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551201970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.798190;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237794913 rs556269614 A ATT 100 PASS AC=77;AF=0.553315;AN=214;NS=2504;DP=13670;EAS_AF=0.4742;AMR_AF=0.5058;AFR_AF=0.8949;EUR_AF=0.3767;SAS_AF=0.3885;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.553315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556269614;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.106462;Kaviar_AC=2771;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 0|0 0|1 0|1 1|0 0|1 0|0 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|1 0|0 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 0|1 1|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 0|1 0|0 0|0 +1 237796837 rs10802626 G A 100 PASS AC=64;AF=0.428514;AN=214;NS=2504;DP=19391;EAS_AF=0.4782;AMR_AF=0.3818;AFR_AF=0.531;EUR_AF=0.3221;SAS_AF=0.3814;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10802626;CLNALLELEID=249826;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3323;ExAC_nontcga_ALL=0.3645;ExAC_nontcga_AFR=0.5155;ExAC_nontcga_AMR=0.3942;ExAC_nontcga_EAS=0.4695;ExAC_nontcga_FIN=0.3518;ExAC_nontcga_NFE=0.3283;ExAC_nontcga_OTH=0.3406;ExAC_nontcga_SAS=0.3415;AF=0.4000;AF_popmax=0.5088;AF_male=0.3989;AF_female=0.4013;AF_raw=0.3998;AF_afr=0.5088;AF_sas=.;AF_amr=0.4019;AF_eas=0.4666;AF_nfe=0.3475;AF_fin=0.3681;AF_asj=0.1736;AF_oth=0.3382;non_topmed_AF_popmax=0.5099;non_neuro_AF_popmax=0.4997;non_cancer_AF_popmax=.;controls_AF_popmax=0.4981;Kaviar_AF=0.0018887;Kaviar_AC=292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.575087;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +1 237796850 rs12563366 A G 100 PASS AC=7;AF=0.155152;AN=214;NS=2504;DP=19561;EAS_AF=0.3313;AMR_AF=0.1671;AFR_AF=0.1657;EUR_AF=0.0517;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12563366;CLNALLELEID=249827;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0561;ExAC_nontcga_ALL=0.1112;ExAC_nontcga_AFR=0.1530;ExAC_nontcga_AMR=0.2361;ExAC_nontcga_EAS=0.3352;ExAC_nontcga_FIN=0.1067;ExAC_nontcga_NFE=0.0626;ExAC_nontcga_OTH=0.0942;ExAC_nontcga_SAS=0.0602;AF=0.1078;AF_popmax=0.3216;AF_male=0.1091;AF_female=0.1061;AF_raw=0.1080;AF_afr=0.1528;AF_sas=.;AF_amr=0.1792;AF_eas=0.3216;AF_nfe=0.0596;AF_fin=0.1070;AF_asj=0.0759;AF_oth=0.0800;non_topmed_AF_popmax=0.3237;non_neuro_AF_popmax=0.3216;non_cancer_AF_popmax=.;controls_AF_popmax=0.3315;Kaviar_AF=0.0018887;Kaviar_AC=292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.279769;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237797082 rs1967579 T G 100 PASS AC=64;AF=0.440695;AN=214;NS=2504;DP=18528;EAS_AF=0.4792;AMR_AF=0.3862;AFR_AF=0.5734;EUR_AF=0.3221;SAS_AF=0.3824;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.440695;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1967579;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4113;AF_popmax=0.5487;AF_male=0.4106;AF_female=0.4123;AF_raw=0.4115;AF_afr=0.5487;AF_sas=.;AF_amr=0.4021;AF_eas=0.4678;AF_nfe=0.3478;AF_fin=0.3685;AF_asj=0.1724;AF_oth=0.3407;non_topmed_AF_popmax=0.5495;non_neuro_AF_popmax=0.5362;non_cancer_AF_popmax=.;controls_AF_popmax=0.5316;Kaviar_AF=0.0714933;Kaviar_AC=11053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 +1 237798342 rs41305973 G A 100 PASS AC=17;AF=0.029353;AN=214;NS=2504;DP=15983;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0083;EUR_AF=0.1014;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.029353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305973;CLNALLELEID=249828;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1161;ExAC_nontcga_ALL=0.0692;ExAC_nontcga_AFR=0.0227;ExAC_nontcga_AMR=0.0562;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1266;ExAC_nontcga_NFE=0.1126;ExAC_nontcga_OTH=0.0793;ExAC_nontcga_SAS=0.0150;AF=0.0851;AF_popmax=0.1204;AF_male=0.0833;AF_female=0.0873;AF_raw=0.0851;AF_afr=0.0203;AF_sas=.;AF_amr=0.0511;AF_eas=0.0006;AF_nfe=0.1204;AF_fin=0.1357;AF_asj=0.0483;AF_oth=0.0985;non_topmed_AF_popmax=0.1214;non_neuro_AF_popmax=0.1202;non_cancer_AF_popmax=.;controls_AF_popmax=0.1255;Kaviar_AF=0.054346;Kaviar_AC=8402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +1 237801770 rs707189 T C 100 PASS AC=214;AF=0.954872;AN=214;NS=2504;DP=15801;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8359;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon45:c.T6906C:p.L2302L;1000g2015aug_all=0.954872;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs707189;CLNALLELEID=52988;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9994;ExAC_nontcga_ALL=0.9884;ExAC_nontcga_AFR=0.8649;ExAC_nontcga_AMR=0.9951;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9997;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9645;AF_popmax=1;AF_male=0.9638;AF_female=0.9654;AF_raw=0.9645;AF_afr=0.8746;AF_sas=.;AF_amr=0.9882;AF_eas=1;AF_nfe=0.9999;AF_fin=0.9994;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.937362;Kaviar_AC=144918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920601;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237802559 rs530109 T C 100 PASS AC=214;AF=0.998203;AN=214;NS=2504;DP=19415;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9939;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530109;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9993;AF_popmax=1;AF_male=0.9993;AF_female=0.9994;AF_raw=0.9993;AF_afr=0.9976;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237806606 rs138152176 G GT 100 PASS AC=1;AF=0.0129792;AN=214;NS=2504;DP=17657;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0454;EUR_AF=0.001;SAS_AF=0;AA=?|TTTTTTTTT|TTTTTTTTTT|unsure;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516549;CLNALLELEID=52993;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0415;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0043;AF=0.0124;AF_popmax=0.0425;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0127;AF_afr=0.0425;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0021;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0423;non_neuro_AF_popmax=0.0395;non_cancer_AF_popmax=.;controls_AF_popmax=0.0368;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237806819 rs11583646 G A 100 PASS AC=23;AF=0.14357;AN=214;NS=2504;DP=16629;EAS_AF=0.126;AMR_AF=0.0778;AFR_AF=0.2179;EUR_AF=0.0984;SAS_AF=0.1544;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.14357;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11583646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1273;AF_popmax=0.2113;AF_male=0.1264;AF_female=0.1284;AF_raw=0.1272;AF_afr=0.2113;AF_sas=.;AF_amr=0.0674;AF_eas=0.1404;AF_nfe=0.0994;AF_fin=0.0675;AF_asj=0.0414;AF_oth=0.0924;non_topmed_AF_popmax=0.2113;non_neuro_AF_popmax=0.2041;non_cancer_AF_popmax=.;controls_AF_popmax=0.2063;Kaviar_AF=0.02238;Kaviar_AC=3460;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 237811766 rs72549416 C T 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=18262;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.C7365T:p.D2455D;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549416;CLNALLELEID=45409;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0022;ExAC_nontcga_SAS=0.0008;AF=0.0041;AF_popmax=0.0062;AF_male=0.0039;AF_female=0.0042;AF_raw=0.0041;AF_afr=0.0010;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0062;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.003965;Kaviar_AC=613;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929263;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237811896 rs191850147 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17714;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon49:c.G7495A:p.A2499T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191850147;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.89;Polyphen2_HVAR_rankscore=0.614;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.545;MutationAssessor_score_rankscore=0.745;MutationAssessor_pred=M;FATHMM_score=-2.47;FATHMM_converted_rankscore=0.890;FATHMM_pred=D;PROVEAN_score=-2.69;PROVEAN_converted_rankscore=0.574;PROVEAN_pred=D;VEST3_score=0.462;VEST3_rankscore=0.612;MetaSVM_score=0.775;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.801;MetaLR_rankscore=0.933;MetaLR_pred=D;M-CAP_score=0.586;M-CAP_rankscore=0.963;M-CAP_pred=D;REVEL_score=0.715;REVEL_rankscore=0.900;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.278;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.813;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.808;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=7.931;phyloP100way_vertebrate_rankscore=0.870;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=18.598;SiPhy_29way_logOdds_rankscore=0.912;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.909780;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237813126 rs625006 A G 100 PASS AC=92;AF=0.573083;AN=214;NS=2504;DP=19677;EAS_AF=0.8105;AMR_AF=0.5115;AFR_AF=0.5151;EUR_AF=0.4374;SAS_AF=0.59;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.573083;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs625006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4974;AF_popmax=0.8350;AF_male=0.4968;AF_female=0.4981;AF_raw=0.4973;AF_afr=0.5293;AF_sas=.;AF_amr=0.4988;AF_eas=0.8350;AF_nfe=0.4505;AF_fin=0.5043;AF_asj=0.3069;AF_oth=0.4503;non_topmed_AF_popmax=0.8349;non_neuro_AF_popmax=0.8350;non_cancer_AF_popmax=.;controls_AF_popmax=0.8271;Kaviar_AF=0.0942032;Kaviar_AC=14564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|1 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|1 +1 237814783 rs684923 C T 100 PASS AC=91;AF=0.554912;AN=214;NS=2504;DP=17313;EAS_AF=0.7956;AMR_AF=0.5029;AFR_AF=0.4864;EUR_AF=0.4324;SAS_AF=0.5624;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;1000g2015aug_all=0.554912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs684923;CLNALLELEID=52996;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4361;ExAC_nontcga_ALL=0.5263;ExAC_nontcga_AFR=0.5183;ExAC_nontcga_AMR=0.5667;ExAC_nontcga_EAS=0.7879;ExAC_nontcga_FIN=0.5098;ExAC_nontcga_NFE=0.4775;ExAC_nontcga_OTH=0.4830;ExAC_nontcga_SAS=0.5244;AF=0.4864;AF_popmax=0.8153;AF_male=0.4865;AF_female=0.4864;AF_raw=0.4862;AF_afr=0.5007;AF_sas=.;AF_amr=0.4941;AF_eas=0.8153;AF_nfe=0.4479;AF_fin=0.5006;AF_asj=0.3;AF_oth=0.4458;non_topmed_AF_popmax=0.8146;non_neuro_AF_popmax=0.8153;non_cancer_AF_popmax=.;controls_AF_popmax=0.8085;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.838067;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 1|1 1|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 1|1 +1 237814843 rs531775183 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=16275;EAS_AF=0.004;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531775183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.516597;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237817514 rs3831940 GA G 100 PASS AC=40;AF=0.447484;AN=214;NS=2504;DP=19193;EAS_AF=0.5437;AMR_AF=0.3501;AFR_AF=0.593;EUR_AF=0.2286;SAS_AF=0.4458;AA=AAAAAAATA|AAAAAAAAA|AAAAAAAA|complex_deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.447484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3831940;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3765;AF_popmax=0.5846;AF_male=0.3788;AF_female=0.3737;AF_raw=0.3644;AF_afr=0.5621;AF_sas=.;AF_amr=0.3566;AF_eas=0.5846;AF_nfe=0.2619;AF_fin=0.3509;AF_asj=0.1357;AF_oth=0.3240;non_topmed_AF_popmax=0.5820;non_neuro_AF_popmax=0.5846;non_cancer_AF_popmax=.;controls_AF_popmax=0.5686;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +1 237817784 rs669375 A G 100 PASS AC=33;AF=0.353435;AN=214;NS=2504;DP=18883;EAS_AF=0.5228;AMR_AF=0.3098;AFR_AF=0.3124;EUR_AF=0.1948;SAS_AF=0.4284;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.353435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs669375;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2654;AF_popmax=0.5604;AF_male=0.2677;AF_female=0.2625;AF_raw=0.2657;AF_afr=0.3056;AF_sas=.;AF_amr=0.3007;AF_eas=0.5604;AF_nfe=0.2131;AF_fin=0.2731;AF_asj=0.0897;AF_oth=0.2574;non_topmed_AF_popmax=0.5580;non_neuro_AF_popmax=0.5604;non_cancer_AF_popmax=.;controls_AF_popmax=0.5417;Kaviar_AF=0.0061088;Kaviar_AC=159;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 +1 237823256 rs10925485 A C 100 PASS AC=12;AF=0.0407348;AN=214;NS=2504;DP=14484;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0991;EUR_AF=0.0457;SAS_AF=0.0031;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10925485;CLNALLELEID=249831;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0530;ExAC_nontcga_ALL=0.0599;ExAC_nontcga_AFR=0.1077;ExAC_nontcga_AMR=0.0429;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0693;ExAC_nontcga_NFE=0.0815;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0082;AF=0.0618;AF_popmax=0.0953;AF_male=0.0626;AF_female=0.0608;AF_raw=0.0618;AF_afr=0.0953;AF_sas=.;AF_amr=0.0449;AF_eas=0.0006;AF_nfe=0.0512;AF_fin=0.0599;AF_asj=0.0759;AF_oth=0.0469;non_topmed_AF_popmax=0.0944;non_neuro_AF_popmax=0.1004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0995;Kaviar_AF=0.0431366;Kaviar_AC=6669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534701;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237823258 rs564740529 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14474;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564740529;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.523e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.126e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.534701;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237829952 rs138671840 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=17108;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138671840;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0016;AF_popmax=0.0026;AF_male=0.0019;AF_female=0.0012;AF_raw=0.0016;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.348525;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237831103 rs477245 C A 100 PASS AC=214;AF=0.952077;AN=214;NS=2504;DP=14562;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8275;EUR_AF=0.997;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.952077;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs477245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9591;AF_popmax=1;AF_male=0.9577;AF_female=0.9607;AF_raw=0.9591;AF_afr=0.8543;AF_sas=.;AF_amr=0.9917;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9935;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237831365 rs190730379 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16418;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190730379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0018;AF_popmax=0.0030;AF_male=0.0022;AF_female=0.0014;AF_raw=0.0018;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0006;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0029584;Kaviar_AC=77;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237838001 rs114806261 G A 100 PASS AC=2;AF=0.00179712;AN=214;NS=2504;DP=16271;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114806261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0079;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=0.0084;AF_popmax=0.0131;AF_male=0.0084;AF_female=0.0083;AF_raw=0.0083;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0118;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0150;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0173;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.106732;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237841339 rs187977513 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19972;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187977513;CLNALLELEID=266956;CLNDN=Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.653611;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237841390 rs34967813 A G 100 PASS AC=54;AF=0.0992412;AN=214;NS=2504;DP=19250;EAS_AF=0;AMR_AF=0.1988;AFR_AF=0.0113;EUR_AF=0.2942;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8873G:p.Q2958R;1000g2015aug_all=0.0992412;GWAS=rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032;ORegAnno_REGULATORY_P=rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032;avsnp150=rs34967813;CLNALLELEID=45411;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_converted_rankscore=0.084;SIFT_pred=T;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_rankscore=0.305;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_rankscore=0.208;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.004;MutationTaster_converted_rankscore=0.429;MutationTaster_pred=P;MutationAssessor_score=0.725;MutationAssessor_score_rankscore=0.188;MutationAssessor_pred=N;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-3.33;PROVEAN_converted_rankscore=0.662;PROVEAN_pred=D;VEST3_score=0.538;VEST3_rankscore=0.576;MetaSVM_score=-1.093;MetaSVM_rankscore=0.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.410;REVEL_rankscore=0.725;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.365;CADD_raw_rankscore=0.345;CADD_phred=18.59;DANN_score=0.998;DANN_rankscore=0.895;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_rankscore=0.453;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.088;Eigen-PC-raw=0.270;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.534;integrated_fitCons_score_rankscore=0.214;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=7.206;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=10.287;SiPhy_29way_logOdds_rankscore=0.426;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3042;ExAC_nontcga_ALL=0.2479;ExAC_nontcga_AFR=0.0589;ExAC_nontcga_AMR=0.2369;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.2772;ExAC_nontcga_NFE=0.3501;ExAC_nontcga_OTH=0.2595;ExAC_nontcga_SAS=0.0920;AF=0.2120;AF_popmax=0.3164;AF_male=0.2067;AF_female=0.2188;AF_raw=0.2123;AF_afr=0.0494;AF_sas=.;AF_amr=0.1853;AF_eas=0.0006;AF_nfe=0.3164;AF_fin=0.2412;AF_asj=0.2345;AF_oth=0.2624;non_topmed_AF_popmax=0.3222;non_neuro_AF_popmax=0.3160;non_cancer_AF_popmax=.;controls_AF_popmax=0.3380;Kaviar_AF=0.216757;Kaviar_AC=33511;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917075;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 1|1 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 +1 237841393 rs536037366 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19175;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8876C:p.E2959A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536037366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.581;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.437;Polyphen2_HVAR_rankscore=0.438;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.449;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.494;MutationTaster_pred=D;MutationAssessor_score=1.195;MutationAssessor_score_rankscore=0.303;MutationAssessor_pred=L;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-4.66;PROVEAN_converted_rankscore=0.794;PROVEAN_pred=D;VEST3_score=0.654;VEST3_rankscore=0.678;MetaSVM_score=0.889;MetaSVM_rankscore=0.955;MetaSVM_pred=D;MetaLR_score=0.858;MetaLR_rankscore=0.953;MetaLR_pred=D;M-CAP_score=0.293;M-CAP_rankscore=0.906;M-CAP_pred=D;REVEL_score=0.676;REVEL_rankscore=0.882;MutPred_score=0.314;MutPred_rankscore=0.290;CADD_raw=4.217;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.987;DANN_rankscore=0.443;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.567;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.648;Eigen-PC-raw=0.689;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.534;integrated_fitCons_score_rankscore=0.214;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=8.947;phyloP100way_vertebrate_rankscore=0.927;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.916;SiPhy_29way_logOdds_rankscore=0.792;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.506e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=8.159e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=8.44e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000939276|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944688;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237850666 rs10679267 C CT 100 PASS AC=151;AF=0.561102;AN=214;NS=2504;DP=15694;EAS_AF=0.5218;AMR_AF=0.5937;AFR_AF=0.4463;EUR_AF=0.6958;SAS_AF=0.5951;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.561102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10679267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.965336;ALLELE_END;VINYL_score=1 GT 1|0 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|1 1|0 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 1|1 +1 237850703 rs573581880 C T 100 PASS AC=6;AF=0.00559105;AN=214;NS=2504;DP=12823;EAS_AF=0.004;AMR_AF=0.0043;AFR_AF=0.0045;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573581880;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0;AF_popmax=.;AF_male=0;AF_female=0;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0010758;Kaviar_AC=28;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.661070;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 237850729 rs553428682 C T 100 PASS AC=10;AF=0.00958466;AN=214;NS=2504;DP=14607;EAS_AF=0.0089;AMR_AF=0.0159;AFR_AF=0.0061;EUR_AF=0.0179;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553428682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.671939;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +1 237850816 rs112365440 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15353;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112365440;CLNALLELEID=53004;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0014;AF_popmax=0.0018;AF_male=0.0012;AF_female=0.0016;AF_raw=0.0014;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0029;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902829;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862360 rs377719849 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13022;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377719849;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.38e-05;AF_popmax=0.0001;AF_male=5.731e-05;AF_female=7.194e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862421 rs528932128 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528932128;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0005763;Kaviar_AC=15;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.278148;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237862436 rs1521744 T C 100 PASS AC=155;AF=0.727436;AN=214;NS=2504;DP=14703;EAS_AF=0.497;AMR_AF=0.7637;AFR_AF=0.8699;EUR_AF=0.7525;SAS_AF=0.7209;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.727436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1521744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7582;AF_popmax=0.8430;AF_male=0.7583;AF_female=0.7581;AF_raw=0.7578;AF_afr=0.8430;AF_sas=.;AF_amr=0.7684;AF_eas=0.4562;AF_nfe=0.7497;AF_fin=0.7272;AF_asj=0.6966;AF_oth=0.7403;non_topmed_AF_popmax=0.8426;non_neuro_AF_popmax=0.8383;non_cancer_AF_popmax=.;controls_AF_popmax=0.8366;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 +1 237863718 rs2797436 T G 100 PASS AC=214;AF=0.969249;AN=214;NS=2504;DP=17661;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;1000g2015aug_all=0.969249;GWAS=rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117;ORegAnno_REGULATORY_P=rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117;avsnp150=rs2797436;CLNALLELEID=53005;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9918;ExAC_nontcga_AFR=0.9080;ExAC_nontcga_AMR=0.9957;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9955;ExAC_nontcga_SAS=0.9992;AF=0.9718;AF_popmax=1;AF_male=0.9709;AF_female=0.9729;AF_raw=0.9716;AF_afr=0.9001;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9994;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.940279;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237865203 rs939699 C T 100 PASS AC=214;AF=0.969249;AN=214;NS=2504;DP=17891;EAS_AF=1;AMR_AF=0.9914;AFR_AF=0.888;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.969249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs939699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9717;AF_popmax=1;AF_male=0.9710;AF_female=0.9726;AF_raw=0.9716;AF_afr=0.9000;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=1;AF_oth=0.9954;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.193756;Kaviar_AC=29955;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237865451 rs551491310 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17712;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551491310;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.813096;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237870203 rs150353512 C T 100 PASS AC=6;AF=0.00579073;AN=214;NS=2504;DP=20345;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0092;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150353512;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0112;ExAC_nontcga_SAS=0.0092;AF=0.0061;AF_popmax=0.0106;AF_male=0.0063;AF_female=0.0058;AF_raw=0.0061;AF_afr=0.0021;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0055;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0080788;Kaviar_AC=1249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237870542 rs553445235 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16396;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon68:c.G9874A:p.E3292K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553445235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.102;SIFT_converted_rankscore=0.302;SIFT_pred=T;Polyphen2_HDIV_score=0.236;Polyphen2_HDIV_rankscore=0.291;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_rankscore=0.239;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.657;PROVEAN_pred=D;VEST3_score=0.78;VEST3_rankscore=0.771;MetaSVM_score=0.738;MetaSVM_rankscore=0.937;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.170;M-CAP_rankscore=0.848;M-CAP_pred=D;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=0.436;MutPred_rankscore=0.489;CADD_raw=4.327;CADD_raw_rankscore=0.579;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.848;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.959;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.436;Eigen-PC-raw=0.565;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.527e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.394e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.185e-05;AF_popmax=6.481e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921260;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237872714 rs35261418 GT G 100 PASS AC=208;AF=0.765974;AN=214;NS=2504;DP=15615;EAS_AF=0.8958;AMR_AF=0.8775;AFR_AF=0.3971;EUR_AF=0.9732;SAS_AF=0.8384;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.765974;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35261418;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8152;AF_popmax=0.9867;AF_male=0.8115;AF_female=0.8198;AF_raw=0.8082;AF_afr=0.441;AF_sas=.;AF_amr=0.8829;AF_eas=0.9076;AF_nfe=0.9867;AF_fin=0.9457;AF_asj=0.9962;AF_oth=0.9389;non_topmed_AF_popmax=0.9849;non_neuro_AF_popmax=0.9878;non_cancer_AF_popmax=.;controls_AF_popmax=0.9810;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237872887 rs74323916 T C 100 PASS AC=6;AF=0.00938498;AN=214;NS=2504;DP=15984;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.003;EUR_AF=0.0129;SAS_AF=0.0204;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74323916;CLNALLELEID=45389;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0143;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0109;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0187;ExAC_nontcga_OTH=0.0163;ExAC_nontcga_SAS=0.0173;AF=0.0084;AF_popmax=0.0165;AF_male=0.0091;AF_female=0.0075;AF_raw=0.0084;AF_afr=0.0049;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.0160;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0106079;Kaviar_AC=1640;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237875040 rs186326951 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186326951;CLNALLELEID=142657;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.068;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004916;Kaviar_AC=76;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.774261;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237875068 rs138073811 C T 100 PASS AC=1;AF=0.00339457;AN=214;NS=2504;DP=16525;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon71:c.C10254T:p.N3418N;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138073811;CLNALLELEID=45390;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0.0089;AF=0.0018;AF_popmax=0.0035;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0031;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0031;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.00315;Kaviar_AC=487;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907421;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237880443 rs181504021 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=17658;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181504021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0003105;Kaviar_AC=48;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237881770 rs2797441 C T 100 PASS AC=214;AF=0.960463;AN=214;NS=2504;DP=15429;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.8555;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;1000g2015aug_all=0.960463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2797441;CLNALLELEID=52868;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9886;ExAC_nontcga_AFR=0.8699;ExAC_nontcga_AMR=0.9955;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9992;AF=0.9627;AF_popmax=1;AF_male=0.9614;AF_female=0.9644;AF_raw=0.9627;AF_afr=0.8672;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9996;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933581;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237890437 rs2685301 C T 100 PASS AC=214;AF=0.960264;AN=214;NS=2504;DP=15780;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.8548;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon76:c.C10776T:p.S3592S;1000g2015aug_all=0.960264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2685301;CLNALLELEID=52871;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9995;ExAC_nontcga_ALL=0.9886;ExAC_nontcga_AFR=0.8700;ExAC_nontcga_AMR=0.9952;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9994;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9992;AF=0.9630;AF_popmax=1;AF_male=0.9616;AF_female=0.9648;AF_raw=0.9629;AF_afr=0.8683;AF_sas=.;AF_amr=0.9965;AF_eas=1;AF_nfe=0.9996;AF_fin=1;AF_asj=1;AF_oth=0.9945;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.969903;Kaviar_AC=149949;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855105;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237893674 rs2797445 C T 100 PASS AC=214;AF=0.985224;AN=214;NS=2504;DP=16163;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.947;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.985224;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2797445;CLNALLELEID=195829;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9998;ExAC_nontcga_ALL=0.9954;ExAC_nontcga_AFR=0.9470;ExAC_nontcga_AMR=0.9979;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9998;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9856;AF_popmax=1;AF_male=0.9860;AF_female=0.9851;AF_raw=0.9855;AF_afr=0.9485;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +1 237905520 rs534075544 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14036;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534075544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0026;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0026;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0022;AF_asj=0.0034;AF_oth=0.0029;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0006147;Kaviar_AC=16;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237905568 rs563839853 T TC 100 PASS AC=61;AF=0.195088;AN=214;NS=2504;DP=15317;EAS_AF=0.1776;AMR_AF=0.232;AFR_AF=0.0408;EUR_AF=0.2783;SAS_AF=0.3098;AA=CC|CC|CCC|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195088;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35446101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2912;ExAC_nontcga_ALL=0.1997;ExAC_nontcga_AFR=0.0504;ExAC_nontcga_AMR=0.2262;ExAC_nontcga_EAS=0.1782;ExAC_nontcga_FIN=0.2337;ExAC_nontcga_NFE=0.2293;ExAC_nontcga_OTH=0.2289;ExAC_nontcga_SAS=0.2023;AF=0.1945;AF_popmax=0.2767;AF_male=0.1954;AF_female=0.1934;AF_raw=0.1865;AF_afr=0.0640;AF_sas=.;AF_amr=0.1932;AF_eas=0.2096;AF_nfe=0.2767;AF_fin=0.1475;AF_asj=0.2464;AF_oth=0.2108;non_topmed_AF_popmax=0.2747;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2589;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|0 0|1 1|0 1|0 0|0 0|0 1|1 1|0 0|1 1|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +1 237905586 rs577119352 A T 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=13555;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0257;EUR_AF=0.002;SAS_AF=0.0041;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577119352;CLNALLELEID=281630;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.012;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0021;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0013;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0034;AF_afr=0.0005;AF_sas=.;AF_amr=0.0013;AF_eas=0.0013;AF_nfe=0.0011;AF_fin=0.0052;AF_asj=0;AF_oth=0.0025;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.029922;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237923053 rs2253831 C T 100 PASS AC=147;AF=0.761581;AN=214;NS=2504;DP=17414;EAS_AF=0.8204;AMR_AF=0.7464;AFR_AF=0.8275;EUR_AF=0.6988;SAS_AF=0.6871;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.761581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253831;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6923;ExAC_nontcga_ALL=0.7127;ExAC_nontcga_AFR=0.8031;ExAC_nontcga_AMR=0.7349;ExAC_nontcga_EAS=0.7715;ExAC_nontcga_FIN=0.7446;ExAC_nontcga_NFE=0.6863;ExAC_nontcga_OTH=0.7029;ExAC_nontcga_SAS=0.6977;AF=0.7292;AF_popmax=0.7984;AF_male=0.7294;AF_female=0.7290;AF_raw=0.7288;AF_afr=0.7984;AF_sas=.;AF_amr=0.7577;AF_eas=0.7761;AF_nfe=0.6807;AF_fin=0.7494;AF_asj=0.7103;AF_oth=0.7130;non_topmed_AF_popmax=0.7984;non_neuro_AF_popmax=0.7923;non_cancer_AF_popmax=.;controls_AF_popmax=0.7913;Kaviar_AF=0.69688;Kaviar_AC=107739;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1118953|N/A|USF2|JASPAR,OREG1880749|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.580996;ALLELE_END;VINYL_score=2 GT 1|1 1|0 1|1 0|0 1|1 1|1 1|1 0|1 1|1 0|1 0|0 0|1 1|0 0|1 0|1 1|1 1|1 0|0 0|1 1|0 0|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 +1 237923243 rs3817436 A G 100 PASS AC=18;AF=0.0930511;AN=214;NS=2504;DP=18088;EAS_AF=0.1121;AMR_AF=0.0677;AFR_AF=0.1074;EUR_AF=0.1103;SAS_AF=0.0542;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0930511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3817436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1023;AF_popmax=0.1049;AF_male=0.1035;AF_female=0.1009;AF_raw=0.1025;AF_afr=0.0976;AF_sas=.;AF_amr=0.0696;AF_eas=0.0969;AF_nfe=0.1049;AF_fin=0.1190;AF_asj=0.0655;AF_oth=0.0947;non_topmed_AF_popmax=0.1019;non_neuro_AF_popmax=0.105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0993;Kaviar_AF=0.0208277;Kaviar_AC=3220;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1880749|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 +1 237934206 rs113408406 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=16933;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113408406;CLNALLELEID=45392;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0109;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0431;ExAC_nontcga_NFE=0.0200;ExAC_nontcga_OTH=0.0074;ExAC_nontcga_SAS=0.0019;AF=0.0222;AF_popmax=0.0295;AF_male=0.0212;AF_female=0.0235;AF_raw=0.0222;AF_afr=0.0049;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0295;AF_fin=0.0460;AF_asj=0;AF_oth=0.0276;non_topmed_AF_popmax=0.0285;non_neuro_AF_popmax=0.0290;non_cancer_AF_popmax=.;controls_AF_popmax=0.0255;Kaviar_AF=0.0080853;Kaviar_AC=1250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237941906 rs78765904 C A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=17297;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0256;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78765904;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0080;AF_popmax=0.0142;AF_male=0.0086;AF_female=0.0073;AF_raw=0.0080;AF_afr=0.0025;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0101;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0027555;Kaviar_AC=426;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.512987;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237941945 rs80013027 G A 100 PASS AC=7;AF=0.0445288;AN=214;NS=2504;DP=16705;EAS_AF=0.0784;AMR_AF=0.0259;AFR_AF=0.0174;EUR_AF=0.0398;SAS_AF=0.0644;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0445288;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80013027;CLNALLELEID=249834;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0458;ExAC_nontcga_ALL=0.0442;ExAC_nontcga_AFR=0.0307;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0.0693;ExAC_nontcga_FIN=0.0706;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0435;ExAC_nontcga_SAS=0.0555;AF=0.0461;AF_popmax=0.0538;AF_male=0.0465;AF_female=0.0456;AF_raw=0.0461;AF_afr=0.0334;AF_sas=.;AF_amr=0.0295;AF_eas=0.0538;AF_nfe=0.0476;AF_fin=0.0744;AF_asj=0.0139;AF_oth=0.0470;non_topmed_AF_popmax=0.0545;non_neuro_AF_popmax=0.0538;non_cancer_AF_popmax=.;controls_AF_popmax=0.0579;Kaviar_AF=0.0432336;Kaviar_AC=6684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.408047;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237942082 rs199562036 AACTG A 100 PASS AC=6;AF=0.00978435;AN=214;NS=2504;DP=18004;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0256;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199562036;CLNALLELEID=172571;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0158;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0165;AF=0.0080;AF_popmax=0.0142;AF_male=0.0086;AF_female=0.0072;AF_raw=0.0080;AF_afr=0.0024;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0149;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.351284;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237944814 rs12135982 C T 100 PASS AC=21;AF=0.121006;AN=214;NS=2504;DP=16496;EAS_AF=0.0317;AMR_AF=0.0965;AFR_AF=0.2814;EUR_AF=0.0964;SAS_AF=0.0389;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.121006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12135982;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0998;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1192;AF_popmax=0.2381;AF_male=0.1213;AF_female=0.1165;AF_raw=0.1193;AF_afr=0.2381;AF_sas=.;AF_amr=0.0790;AF_eas=0.0411;AF_nfe=0.0815;AF_fin=0.0510;AF_asj=0.0655;AF_oth=0.0790;non_topmed_AF_popmax=0.2377;non_neuro_AF_popmax=0.2363;non_cancer_AF_popmax=.;controls_AF_popmax=0.2331;Kaviar_AF=0.0197022;Kaviar_AC=3046;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.616522;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 +1 237946964 rs790889 T C 100 PASS AC=65;AF=0.414736;AN=214;NS=2504;DP=17208;EAS_AF=0.6964;AMR_AF=0.402;AFR_AF=0.2806;EUR_AF=0.3201;SAS_AF=0.4121;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.414736;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790889;CLNALLELEID=52885;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0017;dbscSNV_RF_SCORE=0.088;esp6500siv2_ea=0.3387;ExAC_nontcga_ALL=0.4984;ExAC_nontcga_AFR=0.3974;ExAC_nontcga_AMR=0.5213;ExAC_nontcga_EAS=0.7076;ExAC_nontcga_FIN=0.4275;ExAC_nontcga_NFE=0.4705;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5323;AF=0.3542;AF_popmax=0.6643;AF_male=0.3558;AF_female=0.3521;AF_raw=0.3545;AF_afr=0.3130;AF_sas=.;AF_amr=0.3865;AF_eas=0.6643;AF_nfe=0.3402;AF_fin=0.3635;AF_asj=0.4517;AF_oth=0.3582;non_topmed_AF_popmax=0.6651;non_neuro_AF_popmax=0.6643;non_cancer_AF_popmax=.;controls_AF_popmax=0.6462;Kaviar_AF=0.356794;Kaviar_AC=55161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.603074;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|1 0|1 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 +1 237947000 rs56226196 C T 100 PASS AC=6;AF=0.0123802;AN=214;NS=2504;DP=18094;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0083;EUR_AF=0.0129;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon90:c.C11988T:p.G3996G;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56226196;CLNALLELEID=52886;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0173;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0168;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0186;AF=0.0105;AF_popmax=0.0177;AF_male=0.0111;AF_female=0.0097;AF_raw=0.0105;AF_afr=0.0093;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0032;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.0173;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0097;Kaviar_AF=0.0119403;Kaviar_AC=1846;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.891071;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237948286 rs141528541 A G 100 PASS AC=4;AF=0.0107827;AN=214;NS=2504;DP=17560;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0389;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141528541;CLNALLELEID=45393;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.618;CADD_raw_rankscore=0.153;CADD_phred=8.280;DANN_score=0.629;DANN_rankscore=0.069;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.269;Eigen-PC-raw=-0.140;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.054;integrated_fitCons_score_rankscore=0.004;integrated_confidence_value=0;GERP++_RS=-0.521;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=0.033;phyloP100way_vertebrate_rankscore=0.135;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.178;phastCons20way_mammalian_rankscore=0.212;SiPhy_29way_logOdds=5.854;SiPhy_29way_logOdds_rankscore=0.178;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0151;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0137;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0068;ExAC_nontcga_NFE=0.0150;ExAC_nontcga_OTH=0.0309;ExAC_nontcga_SAS=0.0206;AF=0.0055;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0047;AF_raw=0.0055;AF_afr=0.0020;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0029;AF_asj=0.0138;AF_oth=0.0101;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0069598;Kaviar_AC=1076;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.383836;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237949440 rs541984163 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17416;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541984163;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.48e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237949456 rs2275690 T C 100 PASS AC=15;AF=0.0407348;AN=214;NS=2504;DP=17186;EAS_AF=0.0327;AMR_AF=0.0461;AFR_AF=0.0454;EUR_AF=0.0666;SAS_AF=0.0123;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0407348;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275690;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0496;AF_popmax=0.0576;AF_male=0.0511;AF_female=0.0477;AF_raw=0.0497;AF_afr=0.0439;AF_sas=.;AF_amr=0.0472;AF_eas=0.0442;AF_nfe=0.0576;AF_fin=0.0311;AF_asj=0.0621;AF_oth=0.0469;non_topmed_AF_popmax=0.0522;non_neuro_AF_popmax=0.0582;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0114552;Kaviar_AC=1771;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +1 237951226 rs16835813 A G 100 PASS AC=2;AF=0.0397364;AN=214;NS=2504;DP=16839;EAS_AF=0.0605;AMR_AF=0.0115;AFR_AF=0.0378;EUR_AF=0.0288;SAS_AF=0.0521;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0397364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835813;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0426;AF_popmax=0.0467;AF_male=0.0422;AF_female=0.0430;AF_raw=0.0426;AF_afr=0.0467;AF_sas=.;AF_amr=0.0177;AF_eas=0.0455;AF_nfe=0.0355;AF_fin=0.0708;AF_asj=0.0172;AF_oth=0.0414;non_topmed_AF_popmax=0.0471;non_neuro_AF_popmax=0.0455;non_cancer_AF_popmax=.;controls_AF_popmax=0.0459;Kaviar_AF=0.0062806;Kaviar_AC=971;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237951451 rs2256242 A G 100 PASS AC=113;AF=0.636581;AN=214;NS=2504;DP=18813;EAS_AF=0.7024;AMR_AF=0.5187;AFR_AF=0.7935;EUR_AF=0.5099;SAS_AF=0.5706;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.636581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2256242;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5443;ExAC_nontcga_ALL=0.5743;ExAC_nontcga_AFR=0.7744;ExAC_nontcga_AMR=0.4453;ExAC_nontcga_EAS=0.6757;ExAC_nontcga_FIN=0.5189;ExAC_nontcga_NFE=0.5482;ExAC_nontcga_OTH=0.5890;ExAC_nontcga_SAS=0.6129;AF=0.6070;AF_popmax=0.7690;AF_male=0.6111;AF_female=0.6017;AF_raw=0.6069;AF_afr=0.7690;AF_sas=.;AF_amr=0.4752;AF_eas=0.6854;AF_nfe=0.5359;AF_fin=0.5300;AF_asj=0.6345;AF_oth=0.5478;non_topmed_AF_popmax=0.7688;non_neuro_AF_popmax=0.7723;non_cancer_AF_popmax=.;controls_AF_popmax=0.7738;Kaviar_AF=0.549178;Kaviar_AC=84904;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.585776;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 0|1 1|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 1|0 0|1 1|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|0 0|0 1|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|0 1|1 1|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 1|1 0|1 0|1 1|0 1|1 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|1 1|0 +1 237951482 rs16835818 G A 100 PASS AC=62;AF=0.297923;AN=214;NS=2504;DP=19540;EAS_AF=0.1171;AMR_AF=0.1974;AFR_AF=0.5772;EUR_AF=0.2773;SAS_AF=0.1994;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.297923;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16835818;CLNALLELEID=249835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2861;ExAC_nontcga_ALL=0.2748;ExAC_nontcga_AFR=0.5305;ExAC_nontcga_AMR=0.1398;ExAC_nontcga_EAS=0.1172;ExAC_nontcga_FIN=0.2672;ExAC_nontcga_NFE=0.2886;ExAC_nontcga_OTH=0.2885;ExAC_nontcga_SAS=0.2466;AF=0.3349;AF_popmax=0.5231;AF_male=0.3385;AF_female=0.3303;AF_raw=0.3351;AF_afr=0.5231;AF_sas=.;AF_amr=0.1804;AF_eas=0.1160;AF_nfe=0.2812;AF_fin=0.2635;AF_asj=0.2655;AF_oth=0.2721;non_topmed_AF_popmax=0.5236;non_neuro_AF_popmax=0.5385;non_cancer_AF_popmax=.;controls_AF_popmax=0.5371;Kaviar_AF=0.252616;Kaviar_AC=39055;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +1 237955364 rs114289907 A G 100 PASS AC=14;AF=0.0535144;AN=214;NS=2504;DP=17584;EAS_AF=0.0298;AMR_AF=0.0303;AFR_AF=0.0582;EUR_AF=0.0298;SAS_AF=0.1125;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0535144;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114289907;CLNALLELEID=215196;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified;CLNDISDB=MedGen:C4053736,OMIM:604772|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0312;ExAC_nontcga_ALL=0.0705;ExAC_nontcga_AFR=0.0626;ExAC_nontcga_AMR=0.0652;ExAC_nontcga_EAS=0.0385;ExAC_nontcga_FIN=0.0259;ExAC_nontcga_NFE=0.0437;ExAC_nontcga_OTH=0.0105;ExAC_nontcga_SAS=0.1129;AF=0.0376;AF_popmax=0.0543;AF_male=0.0382;AF_female=0.0368;AF_raw=0.0377;AF_afr=0.0543;AF_sas=.;AF_amr=0.0507;AF_eas=0.0378;AF_nfe=0.0309;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0350;non_topmed_AF_popmax=0.0545;non_neuro_AF_popmax=0.0650;non_cancer_AF_popmax=.;controls_AF_popmax=0.0650;Kaviar_AF=0.0291523;Kaviar_AC=4507;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.918745;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237955649 rs570819253 CTGTG C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=21026;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529587905;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4544;ExAC_nontcga_AFR=0.2569;ExAC_nontcga_AMR=0.5303;ExAC_nontcga_EAS=0.5011;ExAC_nontcga_FIN=0.4118;ExAC_nontcga_NFE=0.4759;ExAC_nontcga_OTH=0.4315;ExAC_nontcga_SAS=0.3839;AF=0.3092;AF_popmax=0.5256;AF_male=0.3072;AF_female=0.3117;AF_raw=0.2967;AF_afr=0.1033;AF_sas=.;AF_amr=0.3175;AF_eas=0.5256;AF_nfe=0.3917;AF_fin=0.3405;AF_asj=0.5044;AF_oth=0.3701;non_topmed_AF_popmax=0.5263;non_neuro_AF_popmax=0.5256;non_cancer_AF_popmax=.;controls_AF_popmax=0.5169;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.395491;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237955678 rs144369382 T C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=14022;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144369382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3398;AF_popmax=0.5878;AF_male=0.3401;AF_female=0.3394;AF_raw=0.3192;AF_afr=0.1385;AF_sas=.;AF_amr=0.3141;AF_eas=0.5878;AF_nfe=0.3919;AF_fin=0.3783;AF_asj=0.4926;AF_oth=0.3880;non_topmed_AF_popmax=0.5892;non_neuro_AF_popmax=0.5878;non_cancer_AF_popmax=.;controls_AF_popmax=0.5629;Kaviar_AF=0.12452;Kaviar_AC=3241;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237955680 rs146659498 T C 100 PASS AC=107;AF=0.528155;AN=214;NS=2504;DP=14150;EAS_AF=0.6746;AMR_AF=0.6254;AFR_AF=0.264;EUR_AF=0.5696;SAS_AF=0.6227;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.528155;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146659498;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3346;AF_popmax=0.5826;AF_male=0.3344;AF_female=0.3348;AF_raw=0.3163;AF_afr=0.1391;AF_sas=.;AF_amr=0.3221;AF_eas=0.5826;AF_nfe=0.3890;AF_fin=0.3739;AF_asj=0.4963;AF_oth=0.3921;non_topmed_AF_popmax=0.5839;non_neuro_AF_popmax=0.5826;non_cancer_AF_popmax=.;controls_AF_popmax=0.5581;Kaviar_AF=0.0216306;Kaviar_AC=563;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|1 0|1 +1 237957146 rs790902 G A 100 PASS AC=125;AF=0.734026;AN=214;NS=2504;DP=16782;EAS_AF=0.9454;AMR_AF=0.7968;AFR_AF=0.5295;EUR_AF=0.6312;SAS_AF=0.8538;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790902;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6579;ExAC_nontcga_ALL=0.7199;ExAC_nontcga_AFR=0.5576;ExAC_nontcga_AMR=0.8295;ExAC_nontcga_EAS=0.9380;ExAC_nontcga_FIN=0.6880;ExAC_nontcga_NFE=0.6640;ExAC_nontcga_OTH=0.6937;ExAC_nontcga_SAS=0.8244;AF=0.6571;AF_popmax=0.9570;AF_male=0.6594;AF_female=0.6542;AF_raw=0.6565;AF_afr=0.5516;AF_sas=.;AF_amr=0.8007;AF_eas=0.9570;AF_nfe=0.6737;AF_fin=0.6690;AF_asj=0.6621;AF_oth=0.6827;non_topmed_AF_popmax=0.9559;non_neuro_AF_popmax=0.9570;non_cancer_AF_popmax=.;controls_AF_popmax=0.9694;Kaviar_AF=0.676544;Kaviar_AC=104595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.475319;ALLELE_END;VINYL_score=1 GT 0|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 0|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237957161 rs790901 A G 100 PASS AC=127;AF=0.757588;AN=214;NS=2504;DP=16668;EAS_AF=0.9494;AMR_AF=0.804;AFR_AF=0.5688;EUR_AF=0.6501;SAS_AF=0.8926;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.757588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790901;CLNALLELEID=52900;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.6785;ExAC_nontcga_ALL=0.7462;ExAC_nontcga_AFR=0.5946;ExAC_nontcga_AMR=0.8462;ExAC_nontcga_EAS=0.9451;ExAC_nontcga_FIN=0.7158;ExAC_nontcga_NFE=0.6874;ExAC_nontcga_OTH=0.7152;ExAC_nontcga_SAS=0.8658;AF=0.6823;AF_popmax=0.9589;AF_male=0.6855;AF_female=0.6783;AF_raw=0.6822;AF_afr=0.5933;AF_sas=.;AF_amr=0.8090;AF_eas=0.9589;AF_nfe=0.6923;AF_fin=0.6969;AF_asj=0.6862;AF_oth=0.7090;non_topmed_AF_popmax=0.9579;non_neuro_AF_popmax=0.9589;non_cancer_AF_popmax=.;controls_AF_popmax=0.9694;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755143;ALLELE_END;VINYL_score=1 GT 0|1 1|0 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237957309 rs790900 A C 100 PASS AC=123;AF=0.750799;AN=214;NS=2504;DP=16986;EAS_AF=0.9494;AMR_AF=0.7925;AFR_AF=0.5772;EUR_AF=0.6431;SAS_AF=0.862;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.750799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790900;CLNALLELEID=52901;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6684;ExAC_nontcga_ALL=0.7335;ExAC_nontcga_AFR=0.6008;ExAC_nontcga_AMR=0.8385;ExAC_nontcga_EAS=0.9453;ExAC_nontcga_FIN=0.7098;ExAC_nontcga_NFE=0.6716;ExAC_nontcga_OTH=0.6985;ExAC_nontcga_SAS=0.8435;AF=0.6797;AF_popmax=0.9588;AF_male=0.6826;AF_female=0.6761;AF_raw=0.6797;AF_afr=0.6026;AF_sas=.;AF_amr=0.8019;AF_eas=0.9588;AF_nfe=0.6834;AF_fin=0.6949;AF_asj=0.6793;AF_oth=0.7007;non_topmed_AF_popmax=0.9578;non_neuro_AF_popmax=0.9588;non_cancer_AF_popmax=.;controls_AF_popmax=0.9693;Kaviar_AF=0.709325;Kaviar_AC=109663;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.758262;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 0|1 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|0 +1 237958750 rs35572672 A AT 100 PASS AC=109;AF=0.647764;AN=214;NS=2504;DP=13920;EAS_AF=0.8413;AMR_AF=0.7003;AFR_AF=0.5219;EUR_AF=0.5775;SAS_AF=0.6534;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.647764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35572672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6578;AF_popmax=0.9557;AF_male=0.6605;AF_female=0.6544;AF_raw=0.6466;AF_afr=0.6065;AF_sas=.;AF_amr=0.7071;AF_eas=0.9557;AF_nfe=0.6656;AF_fin=0.5947;AF_asj=0.6412;AF_oth=0.6481;non_topmed_AF_popmax=0.9545;non_neuro_AF_popmax=0.9557;non_cancer_AF_popmax=.;controls_AF_popmax=0.9644;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 0|0 1|1 0|0 1|0 1|1 1|1 1|0 1|0 1|0 1|0 1|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 0|1 0|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 1|0 1|1 1|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|1 1|1 0|1 0|1 1|1 0|0 +1 237961297 rs201986107 A ATGGTTGTGGTTG 100 PASS AC=5;AF=0.00938498;AN=214;NS=2504;DP=17096;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0307;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201986107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.011046;ALLELE_END;VINYL_score=11 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237965065 rs577393581 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16287;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577393581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237965094 rs2794820 G T 100 PASS AC=80;AF=0.46226;AN=214;NS=2504;DP=16306;EAS_AF=0.6349;AMR_AF=0.4092;AFR_AF=0.4024;EUR_AF=0.3966;SAS_AF=0.4703;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.46226;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2794820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4227;AF_popmax=0.6399;AF_male=0.4266;AF_female=0.4178;AF_raw=0.4227;AF_afr=0.3995;AF_sas=.;AF_amr=0.3933;AF_eas=0.6399;AF_nfe=0.4175;AF_fin=0.4066;AF_asj=0.5172;AF_oth=0.4191;non_topmed_AF_popmax=0.6406;non_neuro_AF_popmax=0.6399;non_cancer_AF_popmax=.;controls_AF_popmax=0.6098;Kaviar_AF=0.0807816;Kaviar_AC=12489;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237965131 rs9428384 G A 100 PASS AC=80;AF=0.405152;AN=214;NS=2504;DP=17072;EAS_AF=0.6349;AMR_AF=0.3948;AFR_AF=0.1944;EUR_AF=0.3956;SAS_AF=0.4703;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.405152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9428384;CLNALLELEID=249838;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4032;ExAC_nontcga_ALL=0.4184;ExAC_nontcga_AFR=0.2244;ExAC_nontcga_AMR=0.3627;ExAC_nontcga_EAS=0.6177;ExAC_nontcga_FIN=0.4122;ExAC_nontcga_NFE=0.4119;ExAC_nontcga_OTH=0.4154;ExAC_nontcga_SAS=0.4850;AF=0.3711;AF_popmax=0.6349;AF_male=0.3738;AF_female=0.3676;AF_raw=0.3679;AF_afr=0.2267;AF_sas=.;AF_amr=0.3834;AF_eas=0.6349;AF_nfe=0.4121;AF_fin=0.3977;AF_asj=0.5140;AF_oth=0.4083;non_topmed_AF_popmax=0.6363;non_neuro_AF_popmax=0.6349;non_cancer_AF_popmax=.;controls_AF_popmax=0.6026;Kaviar_AF=0.392524;Kaviar_AC=60685;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355954;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237965133 rs35563566 A AT 100 PASS AC=70;AF=0.377995;AN=214;NS=2504;DP=18436;EAS_AF=0.6091;AMR_AF=0.3573;AFR_AF=0.1899;EUR_AF=0.3668;SAS_AF=0.4202;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.377995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55683196;CLNALLELEID=52905;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3297;ExAC_nontcga_AFR=0.2928;ExAC_nontcga_AMR=0.2916;ExAC_nontcga_EAS=0.4146;ExAC_nontcga_FIN=0.3611;ExAC_nontcga_NFE=0.3296;ExAC_nontcga_OTH=0.3214;ExAC_nontcga_SAS=0.3201;AF=0.3733;AF_popmax=0.5727;AF_male=0.3739;AF_female=0.3725;AF_raw=0.3455;AF_afr=0.3088;AF_sas=.;AF_amr=0.3515;AF_eas=0.5727;AF_nfe=0.3775;AF_fin=0.4307;AF_asj=0.4662;AF_oth=0.3895;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5727;non_cancer_AF_popmax=.;controls_AF_popmax=0.5495;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355954;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 +1 237969638 rs790879 A G 100 PASS AC=35;AF=0.28774;AN=214;NS=2504;DP=18038;EAS_AF=0.496;AMR_AF=0.2709;AFR_AF=0.2179;EUR_AF=0.1928;SAS_AF=0.2771;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.28774;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs790879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2246;AF_popmax=0.5026;AF_male=0.2278;AF_female=0.2205;AF_raw=0.2246;AF_afr=0.2056;AF_sas=.;AF_amr=0.2217;AF_eas=0.5026;AF_nfe=0.2109;AF_fin=0.2163;AF_asj=0.1793;AF_oth=0.2155;non_topmed_AF_popmax=0.5053;non_neuro_AF_popmax=0.5026;non_cancer_AF_popmax=.;controls_AF_popmax=0.4758;Kaviar_AF=0.0436864;Kaviar_AC=6754;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 +1 237972148 rs562583470 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14320;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562583470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237972152 rs138333572 T C 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=14325;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0307;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138333572;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0078;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0238;AF=0.0053;AF_popmax=0.0118;AF_male=0.0057;AF_female=0.0048;AF_raw=0.0053;AF_afr=0.0016;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.006337;ALLELE_END;VINYL_score=7 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237972189 rs41267519 A G 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=14846;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0307;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41267519;CLNALLELEID=52909;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.0078;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0057;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0239;AF=0.0053;AF_popmax=0.0118;AF_male=0.0057;AF_female=0.0048;AF_raw=0.0053;AF_afr=0.0016;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0083699;Kaviar_AC=1294;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.692462;ALLELE_END;VINYL_score=7 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991614 rs149628023 G C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=21001;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149628023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0060;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0056;AF_popmax=0.0090;AF_male=0.0058;AF_female=0.0054;AF_raw=0.0056;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0049;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0097;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.001533;Kaviar_AC=237;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.002539;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991767 rs147311361 T C 100 PASS AC=5;AF=0.00938498;AN=214;NS=2504;DP=18855;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0307;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147311361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0147;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0236;AF=0.0057;AF_popmax=0.0130;AF_male=0.0060;AF_female=0.0053;AF_raw=0.0057;AF_afr=0.0015;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0058;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0062418;Kaviar_AC=965;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237991862 rs140195803 TG T 100 PASS AC=10;AF=0.0209665;AN=214;NS=2504;DP=19447;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0038;EUR_AF=0.0706;SAS_AF=0.0112;AA=GG|GG|G|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0209665;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140195803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0520;AF_popmax=0.0731;AF_male=0.0497;AF_female=0.0549;AF_raw=0.0521;AF_afr=0.0133;AF_sas=.;AF_amr=0.0425;AF_eas=0;AF_nfe=0.0731;AF_fin=0.0774;AF_asj=0.0552;AF_oth=0.0634;non_topmed_AF_popmax=0.0691;non_neuro_AF_popmax=0.0739;non_cancer_AF_popmax=.;controls_AF_popmax=0.0625;Kaviar_AF=0.0106808;Kaviar_AC=278;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +1 237993743 rs149955622 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22575;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149955622;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237993798 rs76289511 C T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=21207;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76289511;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0028;AF=0.0020;AF_popmax=0.0032;AF_male=0.0021;AF_female=0.0019;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0012;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0029366;Kaviar_AC=454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.902368;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237994957 rs4659818 G A 100 PASS AC=1;AF=0.158347;AN=214;NS=2504;DP=18914;EAS_AF=0.2907;AMR_AF=0.0836;AFR_AF=0.1876;EUR_AF=0.0089;SAS_AF=0.1892;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.158347;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4659818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0693;AF_popmax=0.2946;AF_male=0.0724;AF_female=0.0653;AF_raw=0.0693;AF_afr=0.1690;AF_sas=.;AF_amr=0.0972;AF_eas=0.2946;AF_nfe=0.0057;AF_fin=0.0112;AF_asj=0;AF_oth=0.0341;non_topmed_AF_popmax=0.2943;non_neuro_AF_popmax=0.2946;non_cancer_AF_popmax=.;controls_AF_popmax=0.3055;Kaviar_AF=0.0097347;Kaviar_AC=1505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +1 237996016 rs555641416 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16742;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=RYR2;GeneDetail.refGene=NM_001035:c.*69C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555641416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391398|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.642075;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30407387 rs117502839 G A 100 PASS AC=4;AF=0.00119808;AN=214;NS=2504;DP=20063;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon2:c.G4A:p.A2T;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117502839;CLNALLELEID=55691;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.123;SIFT_converted_rankscore=0.275;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.974;MutationTaster_converted_rankscore=0.255;MutationTaster_pred=N;MutationAssessor_score=1.545;MutationAssessor_score_rankscore=0.392;MutationAssessor_pred=L;FATHMM_score=-0.72;FATHMM_converted_rankscore=0.730;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.291;VEST3_rankscore=0.350;MetaSVM_score=-0.960;MetaSVM_rankscore=0.392;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.512;MetaLR_pred=T;M-CAP_score=0.041;M-CAP_rankscore=0.601;M-CAP_pred=D;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.332;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_rankscore=0.490;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.353;Eigen-PC-raw=-0.218;GenoCanyon_score=0.915;GenoCanyon_score_rankscore=0.264;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=2.52;GERP++_RS_rankscore=0.294;phyloP100way_vertebrate=3.557;phyloP100way_vertebrate_rankscore=0.532;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=7.289;SiPhy_29way_logOdds_rankscore=0.254;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0018;AF_popmax=0.0031;AF_male=0.0018;AF_female=0.0017;AF_raw=0.0018;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000648953|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.951784;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +20 30408306 rs34396614 C G 100 PASS AC=7;AF=0.00838658;AN=214;NS=2504;DP=16862;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon3:c.C430G:p.P144A;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34396614;CLNALLELEID=45314;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.092;MetaSVM_score=-0.876;MetaSVM_rankscore=0.501;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.483;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.137;REVEL_rankscore=0.375;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.119;CADD_raw_rankscore=0.553;CADD_phred=23.8;DANN_score=0.992;DANN_rankscore=0.540;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_rankscore=0.108;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.025;Eigen-PC-raw=-0.152;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.352;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.72;GERP++_RS_rankscore=0.417;phyloP100way_vertebrate=0.154;phyloP100way_vertebrate_rankscore=0.160;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=9.771;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0202;ExAC_nontcga_ALL=0.0128;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0077;ExAC_nontcga_NFE=0.0189;ExAC_nontcga_OTH=0.0190;ExAC_nontcga_SAS=0.0017;AF=0.0127;AF_popmax=0.0205;AF_male=0.0127;AF_female=0.0127;AF_raw=0.0127;AF_afr=0.0041;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0205;AF_fin=0.0052;AF_asj=0.0103;AF_oth=0.0129;non_topmed_AF_popmax=0.0197;non_neuro_AF_popmax=0.0198;non_cancer_AF_popmax=.;controls_AF_popmax=0.0156;Kaviar_AF=0.0137838;Kaviar_AC=2131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000648953|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.842390;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30409207 rs186773680 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17952;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186773680;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.313475;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30409452 rs6058469 T C 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=14415;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon4:c.T684C:p.I228I;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6058469;CLNALLELEID=55693;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0802;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1439;ExAC_nontcga_AMR=0.0440;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0736;ExAC_nontcga_NFE=0.0781;ExAC_nontcga_OTH=0.0838;ExAC_nontcga_SAS=0.0237;AF=0.0807;AF_popmax=0.1311;AF_male=0.0807;AF_female=0.0809;AF_raw=0.0808;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0689;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1302;non_neuro_AF_popmax=0.1339;non_cancer_AF_popmax=.;controls_AF_popmax=0.1329;Kaviar_AF=0.0680134;Kaviar_AC=10515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.852089;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30409573 rs6060970 C T 100 PASS AC=23;AF=0.071885;AN=214;NS=2504;DP=9017;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.1483;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0706;ExAC_nontcga_ALL=0.0667;ExAC_nontcga_AFR=0.1457;ExAC_nontcga_AMR=0.0436;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0720;ExAC_nontcga_NFE=0.0779;ExAC_nontcga_OTH=0.0821;ExAC_nontcga_SAS=0.0225;AF=0.0788;AF_popmax=0.1276;AF_male=0.0785;AF_female=0.0792;AF_raw=0.0802;AF_afr=0.1276;AF_sas=.;AF_amr=0.0461;AF_eas=0.0013;AF_nfe=0.0644;AF_fin=0.0689;AF_asj=0.0655;AF_oth=0.0684;non_topmed_AF_popmax=0.1266;non_neuro_AF_popmax=0.1313;non_cancer_AF_popmax=.;controls_AF_popmax=0.1310;Kaviar_AF=0.0620302;Kaviar_AC=9590;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.005837;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30409584 rs35574032 G C 100 PASS AC=14;AF=0.0549121;AN=214;NS=2504;DP=9317;EAS_AF=0.001;AMR_AF=0.072;AFR_AF=0.0083;EUR_AF=0.1163;SAS_AF=0.0982;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0549121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35574032;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1195;ExAC_nontcga_ALL=0.1002;ExAC_nontcga_AFR=0.0235;ExAC_nontcga_AMR=0.0773;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.1395;ExAC_nontcga_NFE=0.1262;ExAC_nontcga_OTH=0.1180;ExAC_nontcga_SAS=0.1037;AF=0.0862;AF_popmax=0.1192;AF_male=0.0845;AF_female=0.0884;AF_raw=0.0865;AF_afr=0.0256;AF_sas=.;AF_amr=0.0696;AF_eas=0.0032;AF_nfe=0.1192;AF_fin=0.1288;AF_asj=0.0862;AF_oth=0.1015;non_topmed_AF_popmax=0.1194;non_neuro_AF_popmax=0.1205;non_cancer_AF_popmax=.;controls_AF_popmax=0.1225;Kaviar_AF=0.0890868;Kaviar_AC=13773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.030764;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +20 30411427 rs6060971 T C 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=18526;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0802;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.1439;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0745;ExAC_nontcga_NFE=0.0785;ExAC_nontcga_OTH=0.0843;ExAC_nontcga_SAS=0.0236;AF=0.0810;AF_popmax=0.1317;AF_male=0.0807;AF_female=0.0813;AF_raw=0.0808;AF_afr=0.1317;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0709;non_topmed_AF_popmax=0.1308;non_neuro_AF_popmax=0.1352;non_cancer_AF_popmax=.;controls_AF_popmax=0.1346;Kaviar_AF=0.0670366;Kaviar_AC=10364;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.478916;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30412101 rs41293106 C T 100 PASS AC=1;AF=0.00599042;AN=214;NS=2504;DP=19653;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0149;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon6:c.C918T:p.A306A;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293106;CLNALLELEID=45316;CLNDN=Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0193;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0077;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0164;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0084;AF=0.0101;AF_popmax=0.0167;AF_male=0.0109;AF_female=0.0090;AF_raw=0.0101;AF_afr=0.0031;AF_sas=.;AF_amr=0.0083;AF_eas=0.0013;AF_nfe=0.0167;AF_fin=0.0035;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0096;Kaviar_AF=0.0114358;Kaviar_AC=1768;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1501378|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.904036;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414334 rs11907651 G A 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=17926;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11907651;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0803;AF_popmax=0.1302;AF_male=0.0800;AF_female=0.0805;AF_raw=0.0807;AF_afr=0.1302;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0656;AF_fin=0.0692;AF_asj=0.0655;AF_oth=0.0675;non_topmed_AF_popmax=0.1293;non_neuro_AF_popmax=0.1336;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.528867;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30414503 rs17340492 C T 100 PASS AC=5;AF=0.00499201;AN=214;NS=2504;DP=20421;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17340492;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0103;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0156;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0005;AF=0.0109;AF_popmax=0.0134;AF_male=0.0115;AF_female=0.0101;AF_raw=0.0109;AF_afr=0.0039;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0134;AF_fin=0.0230;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0125;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.912412;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414528 rs76530988 G A 100 PASS AC=5;AF=0.00958466;AN=214;NS=2504;DP=19779;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.003;EUR_AF=0.0298;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76530988;CLNALLELEID=45311;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0265;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0112;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0393;ExAC_nontcga_NFE=0.0307;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0018;AF=0.0206;AF_popmax=0.0262;AF_male=0.0209;AF_female=0.0201;AF_raw=0.0207;AF_afr=0.0055;AF_sas=.;AF_amr=0.0260;AF_eas=0;AF_nfe=0.0262;AF_fin=0.0381;AF_asj=0.0379;AF_oth=0.0267;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0272;non_cancer_AF_popmax=.;controls_AF_popmax=0.0231;Kaviar_AF=0.0202779;Kaviar_AC=3135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.326815;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414560 rs41293108 C G 100 PASS AC=23;AF=0.0720847;AN=214;NS=2504;DP=18013;EAS_AF=0.001;AMR_AF=0.0836;AFR_AF=0.149;EUR_AF=0.0815;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.08;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1437;ExAC_nontcga_AMR=0.0441;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.0782;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.0236;AF=0.0807;AF_popmax=0.1311;AF_male=0.0804;AF_female=0.0812;AF_raw=0.0809;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1301;non_neuro_AF_popmax=0.1343;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.392839;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0720847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41293108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.08;ExAC_nontcga_ALL=0.0657;ExAC_nontcga_AFR=0.1437;ExAC_nontcga_AMR=0.0441;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0739;ExAC_nontcga_NFE=0.0782;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.0236;AF=0.0807;AF_popmax=0.1311;AF_male=0.0804;AF_female=0.0812;AF_raw=0.0809;AF_afr=0.1311;AF_sas=.;AF_amr=0.0483;AF_eas=0.0013;AF_nfe=0.0658;AF_fin=0.0691;AF_asj=0.0655;AF_oth=0.0708;non_topmed_AF_popmax=0.1301;non_neuro_AF_popmax=0.1343;non_cancer_AF_popmax=.;controls_AF_popmax=0.1330;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.392839;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30414578 rs11699351 G A 100 PASS AC=7;AF=0.0201677;AN=214;NS=2504;DP=18363;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0497;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11699351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0436;ExAC_nontcga_NFE=0.0438;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0307;AF=0.0288;AF_popmax=0.0408;AF_male=0.0289;AF_female=0.0286;AF_raw=0.0288;AF_afr=0.0063;AF_sas=.;AF_amr=0.0189;AF_eas=0.0013;AF_nfe=0.0408;AF_fin=0.0438;AF_asj=0.0483;AF_oth=0.0322;non_topmed_AF_popmax=0.0382;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.809468;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11699351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0328;ExAC_nontcga_AFR=0.0072;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0436;ExAC_nontcga_NFE=0.0438;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0307;AF=0.0288;AF_popmax=0.0408;AF_male=0.0289;AF_female=0.0286;AF_raw=0.0288;AF_afr=0.0063;AF_sas=.;AF_amr=0.0189;AF_eas=0.0013;AF_nfe=0.0408;AF_fin=0.0438;AF_asj=0.0483;AF_oth=0.0322;non_topmed_AF_popmax=0.0382;non_neuro_AF_popmax=0.0410;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.809468;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30414621 rs6089088 C T 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=19225;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon8:c.C1104T:p.F368F;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6089088;CLNALLELEID=55683;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0384;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0342;ExAC_nontcga_NFE=0.0228;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0120;AF=0.0210;AF_popmax=0.0318;AF_male=0.0195;AF_female=0.0227;AF_raw=0.0211;AF_afr=0.0048;AF_sas=.;AF_amr=0.0318;AF_eas=0.0013;AF_nfe=0.0293;AF_fin=0.0311;AF_asj=0.0034;AF_oth=0.0239;non_topmed_AF_popmax=0.0333;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0202326;Kaviar_AC=3128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.897062;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30418996 rs140019824 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=12906;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140019824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0048;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0037;AF=0.0038;AF_popmax=0.0056;AF_male=0.0037;AF_female=0.0039;AF_raw=0.0038;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.003454;Kaviar_AC=534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.292048;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +20 30419595 rs144359857 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21055;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon11:c.C1514T:p.T505I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144359857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.392;Polyphen2_HDIV_rankscore=0.328;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.374;Polyphen2_HVAR_rankscore=0.419;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.403;MutationTaster_pred=D;MutationAssessor_score=-0.37;MutationAssessor_score_rankscore=0.031;MutationAssessor_pred=N;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-3.38;PROVEAN_converted_rankscore=0.667;PROVEAN_pred=D;VEST3_score=0.262;VEST3_rankscore=0.319;MetaSVM_score=-0.852;MetaSVM_rankscore=0.519;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.437;MetaLR_pred=T;M-CAP_score=0.077;M-CAP_rankscore=0.728;M-CAP_pred=D;REVEL_score=0.165;REVEL_rankscore=0.429;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.477;CADD_raw_rankscore=0.743;CADD_phred=26.2;DANN_score=0.999;DANN_rankscore=0.949;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.641;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.126;Eigen-PC-raw=0.017;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=4.255;phyloP100way_vertebrate_rankscore=0.584;phyloP20way_mammalian=0.843;phyloP20way_mammalian_rankscore=0.344;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=16.286;SiPhy_29way_logOdds_rankscore=0.825;Interpro_domain=Protein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937496;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 30419954 rs6060980 A G 100 PASS AC=23;AF=0.0722843;AN=214;NS=2504;DP=16623;EAS_AF=0.001;AMR_AF=0.0793;AFR_AF=0.152;EUR_AF=0.0805;SAS_AF=0.0245;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6060980;CLNALLELEID=45313;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0755;ExAC_nontcga_ALL=0.0776;ExAC_nontcga_AFR=0.1676;ExAC_nontcga_AMR=0.0546;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1004;ExAC_nontcga_NFE=0.0914;ExAC_nontcga_OTH=0.0973;ExAC_nontcga_SAS=0.0275;AF=0.0807;AF_popmax=0.1339;AF_male=0.0808;AF_female=0.0807;AF_raw=0.0809;AF_afr=0.1339;AF_sas=.;AF_amr=0.0472;AF_eas=0.0013;AF_nfe=0.0641;AF_fin=0.0695;AF_asj=0.0655;AF_oth=0.0710;non_topmed_AF_popmax=0.1330;non_neuro_AF_popmax=0.1344;non_cancer_AF_popmax=.;controls_AF_popmax=0.1336;Kaviar_AF=0.0641389;Kaviar_AC=9916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.672132;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +20 30421459 rs6089093 C T 100 PASS AC=44;AF=0.222444;AN=214;NS=2504;DP=18084;EAS_AF=0;AMR_AF=0.1571;AFR_AF=0.5439;EUR_AF=0.2326;SAS_AF=0.0532;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.222444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6089093;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2040;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2908;AF_popmax=0.4723;AF_male=0.2888;AF_female=0.2933;AF_raw=0.2910;AF_afr=0.4723;AF_sas=.;AF_amr=0.1745;AF_eas=0.0013;AF_nfe=0.2209;AF_fin=0.3145;AF_asj=0.2345;AF_oth=0.2767;non_topmed_AF_popmax=0.4725;non_neuro_AF_popmax=0.4765;non_cancer_AF_popmax=.;controls_AF_popmax=0.4765;Kaviar_AF=0.0385571;Kaviar_AC=5961;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.214015::0.213232;Heart_Left_Ventricle=Heart_Left_Ventricle::0.215074::0.276584;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.357362;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 +20 31996336 rs532358011 T G 100 PASS AC=2;AF=0.0365415;AN=214;NS=2504;DP=18570;EAS_AF=0.0317;AMR_AF=0.0591;AFR_AF=0.0295;EUR_AF=0.0258;SAS_AF=0.046;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon8:c.A1495C:p.T499P;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532358011;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.585;Polyphen2_HVAR_rankscore=0.562;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_converted_rankscore=0.386;LRT_pred=N;MutationTaster_score=0.783;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=-2.02;FATHMM_converted_rankscore=0.856;FATHMM_pred=D;PROVEAN_score=-3.51;PROVEAN_converted_rankscore=0.683;PROVEAN_pred=D;VEST3_score=0.812;VEST3_rankscore=0.801;MetaSVM_score=0.432;MetaSVM_rankscore=0.896;MetaSVM_pred=D;MetaLR_score=0.609;MetaLR_rankscore=0.861;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.647;REVEL_rankscore=0.868;MutPred_score=0.442;MutPred_rankscore=0.499;CADD_raw=3.397;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.996;DANN_rankscore=0.723;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.912;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.384;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.52;GERP++_RS_rankscore=0.546;phyloP100way_vertebrate=4.767;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=9.038;SiPhy_29way_logOdds_rankscore=0.353;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.634e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=3.7e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.679101;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32000351 rs291694 A G 100 PASS AC=144;AF=0.6877;AN=214;NS=2504;DP=17611;EAS_AF=0.628;AMR_AF=0.7709;AFR_AF=0.6831;EUR_AF=0.662;SAS_AF=0.7229;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.6877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs291694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6893;ExAC_nontcga_ALL=0.6949;ExAC_nontcga_AFR=0.6870;ExAC_nontcga_AMR=0.8109;ExAC_nontcga_EAS=0.6264;ExAC_nontcga_FIN=0.6124;ExAC_nontcga_NFE=0.6933;ExAC_nontcga_OTH=0.6809;ExAC_nontcga_SAS=0.6927;AF=0.6793;AF_popmax=0.7724;AF_male=0.6800;AF_female=0.6784;AF_raw=0.6785;AF_afr=0.6965;AF_sas=.;AF_amr=0.7724;AF_eas=0.6328;AF_nfe=0.6871;AF_fin=0.5999;AF_asj=0.6897;AF_oth=0.6753;non_topmed_AF_popmax=0.7728;non_neuro_AF_popmax=0.7798;non_cancer_AF_popmax=.;controls_AF_popmax=0.7764;Kaviar_AF=0.682941;Kaviar_AC=105584;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.216822;ALLELE_END;VINYL_score=0 GT 0|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 0|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|0 1|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 0|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 1|0 0|1 1|1 0|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 +20 32000462 rs35938843 C T 100 PASS AC=2;AF=0.0071885;AN=214;NS=2504;DP=18774;EAS_AF=0.001;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.G828A:p.K276K;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35938843;CLNALLELEID=222853;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0034;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0165;AF=0.0105;AF_popmax=0.0176;AF_male=0.0108;AF_female=0.0103;AF_raw=0.0105;AF_afr=0.0031;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0035;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0180;non_neuro_AF_popmax=0.0171;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0109184;Kaviar_AC=1688;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001050272|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.409965;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32000520 rs56157422 G C 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18921;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.C770G:p.A257G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56157422;CLNALLELEID=189373;CLNDN=Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_rankscore=0.532;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.804;Polyphen2_HVAR_rankscore=0.565;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.82;MutationAssessor_score_rankscore=0.479;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.822;VEST3_rankscore=0.810;MetaSVM_score=-0.552;MetaSVM_rankscore=0.667;MetaSVM_pred=T;MetaLR_score=0.279;MetaLR_rankscore=0.651;MetaLR_pred=T;M-CAP_score=0.126;M-CAP_rankscore=0.808;M-CAP_pred=D;REVEL_score=0.357;REVEL_rankscore=0.681;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.849;CADD_raw_rankscore=0.651;CADD_phred=24.8;DANN_score=0.995;DANN_rankscore=0.651;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.942;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.324;Eigen-PC-raw=0.239;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=7.262;phyloP100way_vertebrate_rankscore=0.776;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.395;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=17.860;SiPhy_29way_logOdds_rankscore=0.886;Interpro_domain=PH_domain-like|Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0022;AF_popmax=0.0041;AF_male=0.0019;AF_female=0.0024;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001050272|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1524827|N/A|ESR1|PAZAR,OREG1533887|N/A|ESR1|PAZAR,OREG1187476|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.220788;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32031206 rs572545726 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=6057;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.C221T:p.P74L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572545726;CLNALLELEID=259063;CLNDN=Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.106;LRT_converted_rankscore=0.196;LRT_pred=N;MutationTaster_score=0.698;MutationTaster_converted_rankscore=0.334;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=0.71;FATHMM_converted_rankscore=0.512;FATHMM_pred=T;PROVEAN_score=-1.52;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.155;MetaSVM_score=-1.009;MetaSVM_rankscore=0.272;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.292;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.143;CADD_raw_rankscore=0.204;CADD_phred=11.45;DANN_score=0.986;DANN_rankscore=0.424;fathmm-MKL_coding_score=0.447;fathmm-MKL_coding_rankscore=0.271;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.704;Eigen-PC-raw=-0.667;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=2.54;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=2.610;phyloP100way_vertebrate_rankscore=0.457;phyloP20way_mammalian=0.760;phyloP20way_mammalian_rankscore=0.310;phastCons100way_vertebrate=0.982;phastCons100way_vertebrate_rankscore=0.353;phastCons20way_mammalian=0.459;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=9.329;SiPhy_29way_logOdds_rankscore=0.370;Interpro_domain=PDZ_domain|Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0294;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0021;AF_popmax=0.0039;AF_male=0.0019;AF_female=0.0024;AF_raw=0.0021;AF_afr=0.0002;AF_sas=.;AF_amr=0.0013;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0048;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000136252|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187477|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.787778;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 32031227 rs536755693 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.C200T:p.A67V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536755693;CLNALLELEID=488008;CLNDN=Long_QT_syndrome|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.434;SIFT_converted_rankscore=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.224;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.225;Polyphen2_HVAR_pred=B;LRT_score=0.065;LRT_converted_rankscore=0.219;LRT_pred=N;MutationTaster_score=0.891;MutationTaster_converted_rankscore=0.359;MutationTaster_pred=D;MutationAssessor_score=1.01;MutationAssessor_score_rankscore=0.254;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-0.98;PROVEAN_converted_rankscore=0.260;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.188;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.288;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.623;M-CAP_pred=D;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=0.16;MutPred_rankscore=0.064;CADD_raw=1.553;CADD_raw_rankscore=0.249;CADD_phred=13.60;DANN_score=0.988;DANN_rankscore=0.457;fathmm-MKL_coding_score=0.724;fathmm-MKL_coding_rankscore=0.352;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.447;Eigen-PC-raw=-0.319;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=3.64;GERP++_RS_rankscore=0.407;phyloP100way_vertebrate=0.155;phyloP100way_vertebrate_rankscore=0.161;phyloP20way_mammalian=0.857;phyloP20way_mammalian_rankscore=0.375;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=12.872;SiPhy_29way_logOdds_rankscore=0.572;Interpro_domain=Pleckstrin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000136252|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187477|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.791355;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42743454 rs6093935 A G 100 PASS AC=66;AF=0.257388;AN=214;NS=2504;DP=18425;EAS_AF=0.1101;AMR_AF=0.219;AFR_AF=0.469;EUR_AF=0.3101;SAS_AF=0.0961;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon5:c.T2073C:p.F691F;1000g2015aug_all=0.257388;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6093935;CLNALLELEID=141314;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3065;ExAC_nontcga_ALL=0.3082;ExAC_nontcga_AFR=0.4811;ExAC_nontcga_AMR=0.2474;ExAC_nontcga_EAS=0.1069;ExAC_nontcga_FIN=0.3875;ExAC_nontcga_NFE=0.3514;ExAC_nontcga_OTH=0.2821;ExAC_nontcga_SAS=0.1399;AF=0.3297;AF_popmax=0.4601;AF_male=0.3288;AF_female=0.3309;AF_raw=0.3304;AF_afr=0.4601;AF_sas=.;AF_amr=0.1718;AF_eas=0.0854;AF_nfe=0.3044;AF_fin=0.2724;AF_asj=0.3448;AF_oth=0.3002;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4595;non_cancer_AF_popmax=.;controls_AF_popmax=0.4535;Kaviar_AF=0.247313;Kaviar_AC=38235;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.674575;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 1|0 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 1|1 +20 42743559 rs201572464 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16953;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201572464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.192e-05;AF_popmax=6.498e-05;AF_male=5.735e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.498e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.04e-05;non_neuro_AF_popmax=7.363e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.652494;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42743616 rs111521448 G C 100 PASS AC=6;AF=0.00499201;AN=214;NS=2504;DP=19193;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111521448;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0090;AF_popmax=0.0136;AF_male=0.0089;AF_female=0.0090;AF_raw=0.0090;AF_afr=0.0033;AF_sas=.;AF_amr=0.0083;AF_eas=0.0006;AF_nfe=0.0136;AF_fin=0.0037;AF_asj=0.0172;AF_oth=0.0156;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0117566;Kaviar_AC=306;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42744265 rs56061946 G C 100 PASS AC=14;AF=0.104433;AN=214;NS=2504;DP=13142;EAS_AF=0.0288;AMR_AF=0.1023;AFR_AF=0.2383;EUR_AF=0.0855;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.104433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56061946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0740;ExAC_nontcga_ALL=0.0717;ExAC_nontcga_AFR=0.2064;ExAC_nontcga_AMR=0.0496;ExAC_nontcga_EAS=0.0206;ExAC_nontcga_FIN=0.0759;ExAC_nontcga_NFE=0.0727;ExAC_nontcga_OTH=0.0632;ExAC_nontcga_SAS=0.0329;AF=0.1063;AF_popmax=0.2069;AF_male=0.1065;AF_female=0.1059;AF_raw=0.1062;AF_afr=0.2069;AF_sas=.;AF_amr=0.0650;AF_eas=0.0129;AF_nfe=0.0738;AF_fin=0.0621;AF_asj=0.0931;AF_oth=0.0722;non_topmed_AF_popmax=0.2062;non_neuro_AF_popmax=0.2128;non_cancer_AF_popmax=.;controls_AF_popmax=0.2079;Kaviar_AF=0.0727352;Kaviar_AC=11245;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935933;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +20 42744587 rs74352869 G C 100 PASS AC=51;AF=0.152955;AN=214;NS=2504;DP=10507;EAS_AF=0.0804;AMR_AF=0.1254;AFR_AF=0.2345;EUR_AF=0.2247;SAS_AF=0.0634;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1728G:p.P576P;1000g2015aug_all=0.152955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74352869;CLNALLELEID=141312;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1887;ExAC_nontcga_ALL=0.2083;ExAC_nontcga_AFR=0.2926;ExAC_nontcga_AMR=0.1467;ExAC_nontcga_EAS=0.0750;ExAC_nontcga_FIN=0.2840;ExAC_nontcga_NFE=0.2773;ExAC_nontcga_OTH=0.2014;ExAC_nontcga_SAS=0.0944;AF=0.2261;AF_popmax=0.2597;AF_male=0.2250;AF_female=0.2274;AF_raw=0.2263;AF_afr=0.2597;AF_sas=.;AF_amr=0.1182;AF_eas=0.0711;AF_nfe=0.2304;AF_fin=0.2136;AF_asj=0.2517;AF_oth=0.2357;non_topmed_AF_popmax=0.2611;non_neuro_AF_popmax=0.2458;non_cancer_AF_popmax=.;controls_AF_popmax=0.2516;Kaviar_AF=0.139054;Kaviar_AC=21498;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.775908;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|0 1|1 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|1 +20 42744802 rs140740776 C T 100 PASS AC=3;AF=0.0153754;AN=214;NS=2504;DP=9258;EAS_AF=0.004;AMR_AF=0.0029;AFR_AF=0.0204;EUR_AF=0.0109;SAS_AF=0.0337;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1513A:p.G505S;1000g2015aug_all=0.0153754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140740776;CLNALLELEID=39415;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.617;SIFT_converted_rankscore=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.167;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.122;LRT_converted_rankscore=0.190;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_converted_rankscore=0.593;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_converted_rankscore=0.055;PROVEAN_pred=N;VEST3_score=0.125;VEST3_rankscore=0.141;MetaSVM_score=-1.061;MetaSVM_rankscore=0.115;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_rankscore=0.169;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.084;REVEL_rankscore=0.250;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.202;CADD_raw_rankscore=0.113;CADD_phred=4.698;DANN_score=0.803;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.067;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.994;Eigen-PC-raw=-1.044;GenoCanyon_score=0.966;GenoCanyon_score_rankscore=0.288;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.03;GERP++_RS_rankscore=0.191;phyloP100way_vertebrate=0.011;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=-0.649;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=3.534;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.004;ExAC_nontcga_ALL=0.0552;ExAC_nontcga_AFR=0.1316;ExAC_nontcga_AMR=0.0227;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0728;AF=0.0115;AF_popmax=0.0204;AF_male=0.0115;AF_female=0.0116;AF_raw=0.0117;AF_afr=0.0204;AF_sas=.;AF_amr=0.0072;AF_eas=0.0013;AF_nfe=0.0080;AF_fin=0.0096;AF_asj=0.0172;AF_oth=0.0129;non_topmed_AF_popmax=0.0207;non_neuro_AF_popmax=0.025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0271;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.737037;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42745033 rs116986535 G A 100 PASS AC=4;AF=0.00738818;AN=214;NS=2504;DP=13465;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0023;EUR_AF=0.0268;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116986535;CLNALLELEID=141311;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0132;ExAC_nontcga_AMR=0.0288;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0833;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0085;ExAC_nontcga_SAS=0.0060;AF=0.0217;AF_popmax=0.0318;AF_male=0.0218;AF_female=0.0216;AF_raw=0.0217;AF_afr=0.0052;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0318;AF_fin=0.0282;AF_asj=0.0103;AF_oth=0.0257;non_topmed_AF_popmax=0.0332;non_neuro_AF_popmax=0.0314;non_cancer_AF_popmax=.;controls_AF_popmax=0.0359;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.475903;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42747247 rs3810510 C T 100 PASS AC=28;AF=0.270367;AN=214;NS=2504;DP=19145;EAS_AF=0.3571;AMR_AF=0.1009;AFR_AF=0.3933;EUR_AF=0.1163;SAS_AF=0.2935;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;1000g2015aug_all=0.270367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3810510;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.544;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_rankscore=0.491;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_converted_rankscore=0.200;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_converted_rankscore=0.421;MutationTaster_pred=P;MutationAssessor_score=1.655;MutationAssessor_score_rankscore=0.426;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_converted_rankscore=0.618;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_converted_rankscore=0.550;PROVEAN_pred=D;VEST3_score=0.102;VEST3_rankscore=0.106;MetaSVM_score=-1.000;MetaSVM_rankscore=0.298;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.175;REVEL_rankscore=0.447;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.490;CADD_raw_rankscore=0.746;CADD_phred=26.2;DANN_score=0.998;DANN_rankscore=0.907;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_rankscore=0.511;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.299;Eigen-PC-raw=0.296;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=3.84;GERP++_RS_rankscore=0.433;phyloP100way_vertebrate=4.340;phyloP100way_vertebrate_rankscore=0.589;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=11.654;SiPhy_29way_logOdds_rankscore=0.504;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1290;ExAC_nontcga_ALL=0.1861;ExAC_nontcga_AFR=0.3441;ExAC_nontcga_AMR=0.0903;ExAC_nontcga_EAS=0.3741;ExAC_nontcga_FIN=0.1023;ExAC_nontcga_NFE=0.1342;ExAC_nontcga_OTH=0.1671;ExAC_nontcga_SAS=0.2812;AF=0.1973;AF_popmax=0.3628;AF_male=0.2023;AF_female=0.1909;AF_raw=0.1973;AF_afr=0.3400;AF_sas=.;AF_amr=0.1050;AF_eas=0.3628;AF_nfe=0.1302;AF_fin=0.1021;AF_asj=0.1138;AF_oth=0.1688;non_topmed_AF_popmax=0.3613;non_neuro_AF_popmax=0.3628;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.436092;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 +20 42747254 rs7268512 G A 100 PASS AC=25;AF=0.048722;AN=214;NS=2504;DP=19041;EAS_AF=0.0109;AMR_AF=0.0447;AFR_AF=0.0719;EUR_AF=0.0895;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.C1179T:p.H393H;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7268512;CLNALLELEID=141309;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1027;ExAC_nontcga_ALL=0.0690;ExAC_nontcga_AFR=0.0798;ExAC_nontcga_AMR=0.0384;ExAC_nontcga_EAS=0.0081;ExAC_nontcga_FIN=0.0786;ExAC_nontcga_NFE=0.0930;ExAC_nontcga_OTH=0.0620;ExAC_nontcga_SAS=0.0296;AF=0.0846;AF_popmax=0.1011;AF_male=0.0843;AF_female=0.0850;AF_raw=0.0847;AF_afr=0.0768;AF_sas=.;AF_amr=0.0483;AF_eas=0.0154;AF_nfe=0.1011;AF_fin=0.0690;AF_asj=0.0690;AF_oth=0.0956;non_topmed_AF_popmax=0.1028;non_neuro_AF_popmax=0.1003;non_cancer_AF_popmax=.;controls_AF_popmax=0.1015;Kaviar_AF=0.0727675;Kaviar_AC=11250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.604477;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 +20 42789053 rs201197277 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=12534;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201197277;CLNALLELEID=141307;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0011;dbscSNV_RF_SCORE=0.02;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0141;AF=0.0014;AF_popmax=0.0022;AF_male=0.0014;AF_female=0.0014;AF_raw=0.0014;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.002652;Kaviar_AC=410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.791148;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42789056 rs111987307 G C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=12622;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111987307;CLNALLELEID=141306;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.048;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0105;ExAC_nontcga_SAS=0.0013;AF=0.0052;AF_popmax=0.0053;AF_male=0.0047;AF_female=0.0058;AF_raw=0.0052;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0196;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0061;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0084;Kaviar_AF=0.0036545;Kaviar_AC=565;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.791148;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42806581 rs200421367 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21043;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JPH2;GeneDetail.refGene=NM_175913:c.*21C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200421367;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42806597 rs202158831 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20194;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=JPH2;GeneDetail.refGene=NM_175913:c.*5G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202158831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.371e-05;AF_popmax=0.0002;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.594677;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 42814931 rs6031442 T C 100 PASS AC=175;AF=0.862819;AN=214;NS=2504;DP=13298;EAS_AF=0.8194;AMR_AF=0.889;AFR_AF=0.9425;EUR_AF=0.8231;SAS_AF=0.8221;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.862819;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6031442;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8244;ExAC_nontcga_ALL=0.8489;ExAC_nontcga_AFR=0.9332;ExAC_nontcga_AMR=0.9165;ExAC_nontcga_EAS=0.8313;ExAC_nontcga_FIN=0.8363;ExAC_nontcga_NFE=0.8275;ExAC_nontcga_OTH=0.8536;ExAC_nontcga_SAS=0.8410;AF=0.8572;AF_popmax=0.9299;AF_male=0.8595;AF_female=0.8543;AF_raw=0.8567;AF_afr=0.9299;AF_sas=.;AF_amr=0.9002;AF_eas=0.8049;AF_nfe=0.8303;AF_fin=0.8225;AF_asj=0.7931;AF_oth=0.8278;non_topmed_AF_popmax=0.9295;non_neuro_AF_popmax=0.9303;non_cancer_AF_popmax=.;controls_AF_popmax=0.9329;Kaviar_AF=0.827687;Kaviar_AC=127962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000137483|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.717802;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +20 42815190 rs1883790 G A 100 PASS AC=175;AF=0.854233;AN=214;NS=2504;DP=14977;EAS_AF=0.745;AMR_AF=0.8948;AFR_AF=0.9607;EUR_AF=0.827;SAS_AF=0.8221;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;1000g2015aug_all=0.854233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883790;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8293;ExAC_nontcga_ALL=0.8459;ExAC_nontcga_AFR=0.9412;ExAC_nontcga_AMR=0.9249;ExAC_nontcga_EAS=0.7455;ExAC_nontcga_FIN=0.8417;ExAC_nontcga_NFE=0.8318;ExAC_nontcga_OTH=0.8444;ExAC_nontcga_SAS=0.8361;AF=0.8605;AF_popmax=0.9362;AF_male=0.8618;AF_female=0.8590;AF_raw=0.8603;AF_afr=0.9362;AF_sas=.;AF_amr=0.9066;AF_eas=0.7371;AF_nfe=0.8376;AF_fin=0.8294;AF_asj=0.8138;AF_oth=0.8330;non_topmed_AF_popmax=0.9358;non_neuro_AF_popmax=0.9362;non_cancer_AF_popmax=.;controls_AF_popmax=0.9387;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000137483|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.918953;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|0 0|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +20 61039958 rs6061550 T C 100 PASS AC=100;AF=0.629193;AN=214;NS=2504;DP=12990;EAS_AF=0.5238;AMR_AF=0.451;AFR_AF=0.8442;EUR_AF=0.4791;SAS_AF=0.728;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;1000g2015aug_all=0.629193;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6061550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5094;ExAC_nontcga_ALL=0.5506;ExAC_nontcga_AFR=0.7964;ExAC_nontcga_AMR=0.4282;ExAC_nontcga_EAS=0.5169;ExAC_nontcga_FIN=0.5229;ExAC_nontcga_NFE=0.5140;ExAC_nontcga_OTH=0.5425;ExAC_nontcga_SAS=0.6516;AF=0.6042;AF_popmax=0.8030;AF_male=0.6045;AF_female=0.6039;AF_raw=0.6033;AF_afr=0.8030;AF_sas=.;AF_amr=0.4415;AF_eas=0.4974;AF_nfe=0.5371;AF_fin=0.5124;AF_asj=0.5172;AF_oth=0.5555;non_topmed_AF_popmax=0.8033;non_neuro_AF_popmax=0.8059;non_cancer_AF_popmax=.;controls_AF_popmax=0.8090;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.655235;ALLELE_END;VINYL_score=-1 GT 0|1 0|1 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 1|1 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 +20 61040014 rs146484782 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11111;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.G1072A:p.G358S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146484782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.745;SIFT_converted_rankscore=0.036;SIFT_pred=T;Polyphen2_HDIV_score=0.056;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=N;MutationTaster_score=0.838;MutationTaster_converted_rankscore=0.286;MutationTaster_pred=N;MutationAssessor_score=-0.895;MutationAssessor_score_rankscore=0.014;MutationAssessor_pred=N;FATHMM_score=-4.79;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=0.34;PROVEAN_converted_rankscore=0.038;PROVEAN_pred=N;VEST3_score=0.045;VEST3_rankscore=0.025;MetaSVM_score=0.011;MetaSVM_rankscore=0.825;MetaSVM_pred=D;MetaLR_score=0.702;MetaLR_rankscore=0.897;MetaLR_pred=D;M-CAP_score=0.036;M-CAP_rankscore=0.570;M-CAP_pred=D;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.651;CADD_raw_rankscore=0.260;CADD_phred=14.13;DANN_score=0.617;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.284;fathmm-MKL_coding_rankscore=0.233;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.792;Eigen-PC-raw=-0.555;GenoCanyon_score=0.971;GenoCanyon_score_rankscore=0.292;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.17;GERP++_RS_rankscore=0.481;phyloP100way_vertebrate=0.015;phyloP100way_vertebrate_rankscore=0.131;phyloP20way_mammalian=0.058;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.969;phastCons100way_vertebrate_rankscore=0.340;phastCons20way_mammalian=0.779;phastCons20way_mammalian_rankscore=0.330;SiPhy_29way_logOdds=7.345;SiPhy_29way_logOdds_rankscore=0.257;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0005;AF_male=5.813e-05;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.57e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.984617;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61040453 rs6061243 C G 100 PASS AC=94;AF=0.534545;AN=214;NS=2504;DP=12861;EAS_AF=0.4613;AMR_AF=0.4755;AFR_AF=0.7171;EUR_AF=0.4642;SAS_AF=0.4775;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;1000g2015aug_all=0.534545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6061243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4841;ExAC_nontcga_ALL=0.4943;ExAC_nontcga_AFR=0.6712;ExAC_nontcga_AMR=0.4594;ExAC_nontcga_EAS=0.4890;ExAC_nontcga_FIN=0.4878;ExAC_nontcga_NFE=0.4900;ExAC_nontcga_OTH=0.5215;ExAC_nontcga_SAS=0.4407;AF=0.5417;AF_popmax=0.6695;AF_male=0.5435;AF_female=0.5394;AF_raw=0.5413;AF_afr=0.6695;AF_sas=.;AF_amr=0.4610;AF_eas=0.4658;AF_nfe=0.5035;AF_fin=0.4654;AF_asj=0.4345;AF_oth=0.5037;non_topmed_AF_popmax=0.6689;non_neuro_AF_popmax=0.6774;non_cancer_AF_popmax=.;controls_AF_popmax=0.6813;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413158|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.786518;ALLELE_END;VINYL_score=0 GT 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 +20 61040951 rs6587239 C T 100 PASS AC=95;AF=0.529553;AN=214;NS=2504;DP=16945;EAS_AF=0.4315;AMR_AF=0.4769;AFR_AF=0.7224;EUR_AF=0.4622;SAS_AF=0.4765;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon5:c.G852A:p.K284K;1000g2015aug_all=0.529553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6587239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4776;ExAC_nontcga_ALL=0.5471;ExAC_nontcga_AFR=0.6878;ExAC_nontcga_AMR=0.5453;ExAC_nontcga_EAS=0.5272;ExAC_nontcga_FIN=0.5655;ExAC_nontcga_NFE=0.5504;ExAC_nontcga_OTH=0.5761;ExAC_nontcga_SAS=0.4708;AF=0.5376;AF_popmax=0.6727;AF_male=0.5385;AF_female=0.5364;AF_raw=0.5373;AF_afr=0.6727;AF_sas=.;AF_amr=0.4587;AF_eas=0.4306;AF_nfe=0.4987;AF_fin=0.4602;AF_asj=0.4276;AF_oth=0.4972;non_topmed_AF_popmax=0.6721;non_neuro_AF_popmax=0.6819;non_cancer_AF_popmax=.;controls_AF_popmax=0.6852;Kaviar_AF=0.442724;Kaviar_AC=68446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.086064;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 0|1 0|1 0|1 0|0 1|0 0|1 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 0|1 1|1 1|1 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|1 0|0 1|1 0|0 1|1 0|0 1|1 +20 61040991 rs140408446 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15649;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140408446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=5.734e-05;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041422 rs570057748 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=14785;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570057748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041640 rs34380624 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13099;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34380624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0079;ExAC_nontcga_SAS=0.0005;AF=0.0006;AF_popmax=0.0011;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041651 rs548885139 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13232;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548885139;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61041653 rs6061244 G C 100 PASS AC=94;AF=0.420327;AN=214;NS=2504;DP=13229;EAS_AF=0.1915;AMR_AF=0.33;AFR_AF=0.5847;EUR_AF=0.3936;SAS_AF=0.5256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.420327;GWAS=rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027;ORegAnno_REGULATORY_P=rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027;avsnp150=rs6061244;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3733;ExAC_nontcga_ALL=0.4798;ExAC_nontcga_AFR=0.5838;ExAC_nontcga_AMR=0.4034;ExAC_nontcga_EAS=0.1682;ExAC_nontcga_FIN=0.4583;ExAC_nontcga_NFE=0.4391;ExAC_nontcga_OTH=0.4322;ExAC_nontcga_SAS=0.4934;AF=0.4244;AF_popmax=0.5570;AF_male=0.4258;AF_female=0.4228;AF_raw=0.4246;AF_afr=0.5570;AF_sas=.;AF_amr=0.2995;AF_eas=0.1853;AF_nfe=0.4121;AF_fin=0.2975;AF_asj=0.4583;AF_oth=0.3766;non_topmed_AF_popmax=0.5558;non_neuro_AF_popmax=0.5684;non_cancer_AF_popmax=.;controls_AF_popmax=0.5589;Kaviar_AF=0.175043;Kaviar_AC=27062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485716|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|0 1|0 1|0 1|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 1|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|1 0|1 1|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 0|1 +20 61048460 rs116164480 A G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=15214;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.T698C:p.L233P;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116164480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.039;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.723;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.412;Polyphen2_HVAR_rankscore=0.431;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.481;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.74;MutationAssessor_score_rankscore=0.453;MutationAssessor_pred=L;FATHMM_score=-6.4;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-4.34;PROVEAN_converted_rankscore=0.768;PROVEAN_pred=D;VEST3_score=0.377;VEST3_rankscore=0.437;MetaSVM_score=0.906;MetaSVM_rankscore=0.958;MetaSVM_pred=D;MetaLR_score=0.959;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.851;M-CAP_rankscore=0.989;M-CAP_pred=D;REVEL_score=0.756;REVEL_rankscore=0.918;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.750;CADD_raw_rankscore=0.508;CADD_phred=23.3;DANN_score=0.998;DANN_rankscore=0.912;fathmm-MKL_coding_score=0.934;fathmm-MKL_coding_rankscore=0.579;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.243;Eigen-PC-raw=0.234;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.65;GERP++_RS_rankscore=0.575;phyloP100way_vertebrate=6.093;phyloP100way_vertebrate_rankscore=0.709;phyloP20way_mammalian=1.193;phyloP20way_mammalian_rankscore=0.911;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.124;SiPhy_29way_logOdds_rankscore=0.646;Interpro_domain=Zinc_finger,_GATA-type|Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.4452;dbscSNV_RF_SCORE=0.502;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0009;AF_popmax=0.0016;AF_male=0.0008;AF_female=0.0011;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001216;Kaviar_AC=188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.107154;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61048549 rs41305803 G A 100 PASS AC=94;AF=0.388179;AN=214;NS=2504;DP=12093;EAS_AF=0.3403;AMR_AF=0.438;AFR_AF=0.4501;EUR_AF=0.4404;SAS_AF=0.2648;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;1000g2015aug_all=0.388179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305803;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4344;ExAC_nontcga_ALL=0.4413;ExAC_nontcga_AFR=0.4653;ExAC_nontcga_AMR=0.4797;ExAC_nontcga_EAS=0.4121;ExAC_nontcga_FIN=0.4961;ExAC_nontcga_NFE=0.4697;ExAC_nontcga_OTH=0.4562;ExAC_nontcga_SAS=0.3045;AF=0.4239;AF_popmax=0.4409;AF_male=0.4250;AF_female=0.4226;AF_raw=0.4238;AF_afr=0.4253;AF_sas=.;AF_amr=0.4409;AF_eas=0.3601;AF_nfe=0.4329;AF_fin=0.4067;AF_asj=0.4069;AF_oth=0.4246;non_topmed_AF_popmax=0.4369;non_neuro_AF_popmax=0.4384;non_cancer_AF_popmax=.;controls_AF_popmax=0.4334;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040156;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|1 0|1 0|1 0|0 1|1 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|0 0|0 1|1 1|0 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 0|1 1|0 1|1 0|1 0|0 1|0 0|0 1|1 0|0 1|0 +20 61050082 rs141950357 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=11905;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.G496A:p.G166S;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141950357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.386;Polyphen2_HDIV_rankscore=0.327;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.966;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=0.917;MutationTaster_converted_rankscore=0.366;MutationTaster_pred=D;MutationAssessor_score=1.03;MutationAssessor_score_rankscore=0.257;MutationAssessor_pred=L;FATHMM_score=-4.39;FATHMM_converted_rankscore=0.974;FATHMM_pred=D;PROVEAN_score=0.47;PROVEAN_converted_rankscore=0.031;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.131;MetaSVM_rankscore=0.794;MetaSVM_pred=T;MetaLR_score=0.591;MetaLR_rankscore=0.854;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.293;REVEL_rankscore=0.617;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.628;CADD_raw_rankscore=0.377;CADD_phred=20.4;DANN_score=0.955;DANN_rankscore=0.264;fathmm-MKL_coding_score=0.666;fathmm-MKL_coding_rankscore=0.329;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.180;Eigen-PC-raw=-1.084;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.354;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-1.08;GERP++_RS_rankscore=0.094;phyloP100way_vertebrate=1.075;phyloP100way_vertebrate_rankscore=0.301;phyloP20way_mammalian=-0.464;phyloP20way_mammalian_rankscore=0.055;phastCons100way_vertebrate=0.957;phastCons100way_vertebrate_rankscore=0.332;phastCons20way_mammalian=0.331;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=7.990;SiPhy_29way_logOdds_rankscore=0.292;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0236;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0543;AF=0.0001;AF_popmax=0.0001;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.801386;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050154 rs111554140 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=12002;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.T424C:p.Y142H;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111554140;CLNALLELEID=410785;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.497;MutationTaster_pred=D;MutationAssessor_score=2.96;MutationAssessor_score_rankscore=0.854;MutationAssessor_pred=M;FATHMM_score=-5.81;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=-2.97;PROVEAN_converted_rankscore=0.618;PROVEAN_pred=D;VEST3_score=0.752;VEST3_rankscore=0.747;MetaSVM_score=1.091;MetaSVM_rankscore=0.993;MetaSVM_pred=D;MetaLR_score=0.977;MetaLR_rankscore=0.993;MetaLR_pred=D;M-CAP_score=0.918;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.857;REVEL_rankscore=0.957;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.737;CADD_raw_rankscore=0.635;CADD_phred=24.6;DANN_score=0.997;DANN_rankscore=0.777;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.550;Eigen-PC-raw=0.417;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=5.315;phyloP100way_vertebrate_rankscore=0.654;phyloP20way_mammalian=1.170;phyloP20way_mammalian_rankscore=0.901;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.237;phastCons20way_mammalian_rankscore=0.225;SiPhy_29way_logOdds=13.579;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.308121;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050379 rs6142775 T G 100 PASS AC=35;AF=0.142572;AN=214;NS=2504;DP=10076;EAS_AF=0.1042;AMR_AF=0.1888;AFR_AF=0.0734;EUR_AF=0.161;SAS_AF=0.2239;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A199C:p.T67P;1000g2015aug_all=0.142572;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6142775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.851;SIFT_converted_rankscore=0.027;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_converted_rankscore=0.266;MutationTaster_pred=P;MutationAssessor_score=-0.61;MutationAssessor_score_rankscore=0.022;MutationAssessor_pred=N;FATHMM_score=-4.73;FATHMM_converted_rankscore=0.981;FATHMM_pred=D;PROVEAN_score=0.56;PROVEAN_converted_rankscore=0.027;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-0.686;MetaSVM_rankscore=0.611;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.113;CADD_raw_rankscore=0.104;CADD_phred=3.744;DANN_score=0.440;DANN_rankscore=0.033;fathmm-MKL_coding_score=0.231;fathmm-MKL_coding_rankscore=0.217;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.212;Eigen-PC-raw=-1.117;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.8;GERP++_RS_rankscore=0.240;phyloP100way_vertebrate=-0.201;phyloP100way_vertebrate_rankscore=0.094;phyloP20way_mammalian=-0.428;phyloP20way_mammalian_rankscore=0.059;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=6.326;SiPhy_29way_logOdds_rankscore=0.203;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=ENSG00000130700.6|ENSG00000130700.6|ENSG00000130700.6|ENSG00000130700.6|ENSG00000272050.1;GTEx_V6p_tissue=Esophagus_Muscularis|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3667;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.375;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.3571;AF=0.1523;AF_popmax=0.2057;AF_male=0.1520;AF_female=0.1527;AF_raw=0.1524;AF_afr=0.0991;AF_sas=.;AF_amr=0.2057;AF_eas=0.1207;AF_nfe=0.1795;AF_fin=0.1591;AF_asj=0.1632;AF_oth=0.1716;non_topmed_AF_popmax=0.2043;non_neuro_AF_popmax=0.2101;non_cancer_AF_popmax=.;controls_AF_popmax=0.2213;Kaviar_AF=0.0343851;Kaviar_AC=5316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.830015;ALLELE_END;VINYL_score=2.5 GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 +20 61050552 rs564720227 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=8853;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.C26G:p.A9G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564720227;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.485;Polyphen2_HDIV_rankscore=0.350;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_converted_rankscore=0.212;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.202;MutationTaster_pred=N;MutationAssessor_score=1.76;MutationAssessor_score_rankscore=0.459;MutationAssessor_pred=L;FATHMM_score=-4.92;FATHMM_converted_rankscore=0.984;FATHMM_pred=D;PROVEAN_score=-0.98;PROVEAN_converted_rankscore=0.260;PROVEAN_pred=N;VEST3_score=0.063;VEST3_rankscore=0.048;MetaSVM_score=0.541;MetaSVM_rankscore=0.911;MetaSVM_pred=D;MetaLR_score=0.871;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.921;M-CAP_rankscore=0.994;M-CAP_pred=D;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=0.701;MutPred_rankscore=0.838;CADD_raw=1.970;CADD_raw_rankscore=0.298;CADD_phred=16.02;DANN_score=0.989;DANN_rankscore=0.481;fathmm-MKL_coding_score=0.654;fathmm-MKL_coding_rankscore=0.325;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.329;Eigen-PC-raw=-0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=1.9;GERP++_RS_rankscore=0.247;phyloP100way_vertebrate=3.315;phyloP100way_vertebrate_rankscore=0.514;phyloP20way_mammalian=0.025;phyloP20way_mammalian_rankscore=0.148;phastCons100way_vertebrate=0.625;phastCons100way_vertebrate_rankscore=0.277;phastCons20way_mammalian=0.091;phastCons20way_mammalian_rankscore=0.185;SiPhy_29way_logOdds=7.926;SiPhy_29way_logOdds_rankscore=0.289;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0020;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.522779;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +20 61050625 rs78235297 G A 100 PASS AC=5;AF=0.101837;AN=214;NS=2504;DP=9484;EAS_AF=0.0437;AMR_AF=0.0245;AFR_AF=0.1778;EUR_AF=0.0109;SAS_AF=0.2076;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78235297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0937;ExAC_nontcga_AFR=0.3597;ExAC_nontcga_AMR=0.0680;ExAC_nontcga_EAS=0.1096;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0275;ExAC_nontcga_OTH=0.0455;ExAC_nontcga_SAS=0.3924;AF=0.0524;AF_popmax=0.1572;AF_male=0.0529;AF_female=0.0517;AF_raw=0.0525;AF_afr=0.1572;AF_sas=.;AF_amr=0.0225;AF_eas=0.0476;AF_nfe=0.0091;AF_fin=0.0040;AF_asj=0.0207;AF_oth=0.0230;non_topmed_AF_popmax=0.1576;non_neuro_AF_popmax=0.1586;non_cancer_AF_popmax=.;controls_AF_popmax=0.1575;Kaviar_AF=0.0207242;Kaviar_AC=3204;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000657241|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485709|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +21 35742722 rs9305548 C T 100 PASS AC=34;AF=0.286941;AN=214;NS=2504;DP=18056;EAS_AF=0.2232;AMR_AF=0.1628;AFR_AF=0.4977;EUR_AF=0.1193;SAS_AF=0.3282;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.286941;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9305548;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2320;AF_popmax=0.4515;AF_male=0.2385;AF_female=0.2238;AF_raw=0.2321;AF_afr=0.4515;AF_sas=.;AF_amr=0.1344;AF_eas=0.2224;AF_nfe=0.1455;AF_fin=0.1148;AF_asj=0.1840;AF_oth=0.1783;non_topmed_AF_popmax=0.4518;non_neuro_AF_popmax=0.4415;non_cancer_AF_popmax=.;controls_AF_popmax=0.4431;Kaviar_AF=0.0366101;Kaviar_AC=5660;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.361661;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|1 +21 35742750 rs41314677 A G 100 PASS AC=4;AF=0.0744808;AN=214;NS=2504;DP=18869;EAS_AF=0.002;AMR_AF=0.0389;AFR_AF=0.2231;EUR_AF=0.0139;SAS_AF=0.0358;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0744808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41314677;CLNALLELEID=257450;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0387;ExAC_nontcga_AFR=0.1959;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0118;ExAC_nontcga_NFE=0.0272;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0369;AF=0.0694;AF_popmax=0.1865;AF_male=0.0720;AF_female=0.0662;AF_raw=0.0694;AF_afr=0.1865;AF_sas=.;AF_amr=0.0271;AF_eas=0.0013;AF_nfe=0.0284;AF_fin=0.0147;AF_asj=0.0138;AF_oth=0.0331;non_topmed_AF_popmax=0.1863;non_neuro_AF_popmax=0.1899;non_cancer_AF_popmax=.;controls_AF_popmax=0.1844;Kaviar_AF=0.0386023;Kaviar_AC=5968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.254505;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +21 35742947 rs74315448 T C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=20424;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.T170C:p.I57T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74315448;CLNALLELEID=21093;CLNDN=Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_rankscore=0.636;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.468;MutationTaster_pred=A;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-3.06;FATHMM_converted_rankscore=0.925;FATHMM_pred=D;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.982;VEST3_rankscore=0.985;MetaSVM_score=0.631;MetaSVM_rankscore=0.923;MetaSVM_pred=D;MetaLR_score=0.747;MetaLR_rankscore=0.914;MetaLR_pred=D;M-CAP_score=0.155;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.863;REVEL_rankscore=0.959;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.453;CADD_raw_rankscore=0.740;CADD_phred=26.1;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_rankscore=0.675;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.659;Eigen-PC-raw=0.667;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=6.808;phyloP100way_vertebrate_rankscore=0.748;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=15.564;SiPhy_29way_logOdds_rankscore=0.759;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0002;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.905103;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821609 rs200684060 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21076;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.C324T:p.V108V,KCNE1:NM_001270404:exon2:c.C324T:p.V108V,KCNE1:NM_001127668:exon3:c.C324T:p.V108V,KCNE1:NM_001127669:exon3:c.C324T:p.V108V,KCNE1:NM_001270402:exon3:c.C324T:p.V108V,KCNE1:NM_001270403:exon3:c.C324T:p.V108V,KCNE1:NM_001270405:exon3:c.C324T:p.V108V,KCNE1B:NM_001330065:exon3:c.C333T:p.V111V,KCNE1:NM_000219:exon4:c.C324T:p.V108V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200684060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.836e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.597612;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821680 rs1805128 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21581;EAS_AF=0.005;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.G253A:p.D85N,KCNE1:NM_001270404:exon2:c.G253A:p.D85N,KCNE1:NM_001127668:exon3:c.G253A:p.D85N,KCNE1:NM_001127669:exon3:c.G253A:p.D85N,KCNE1:NM_001270402:exon3:c.G253A:p.D85N,KCNE1:NM_001270403:exon3:c.G253A:p.D85N,KCNE1:NM_001270405:exon3:c.G253A:p.D85N,KCNE1B:NM_001330065:exon3:c.G262A:p.D88N,KCNE1:NM_000219:exon4:c.G253A:p.D85N;1000g2015aug_all=0.00379393;GWAS=rs1805128|QT-interval|7.409|3E-15|PMID:30679814;ORegAnno_REGULATORY_P=rs1805128|QT-interval|7.409|3E-15|PMID:30679814;avsnp150=rs1805128;CLNALLELEID=28518;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C1867904,OMIM:613695|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other,_risk_factor;SIFT_score=0.034;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=0.575;Polyphen2_HDIV_rankscore=0.368;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.268;Polyphen2_HVAR_rankscore=0.381;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=N;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-3.13;FATHMM_converted_rankscore=0.928;FATHMM_pred=D;PROVEAN_score=-2.9;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=D;VEST3_score=0.034;VEST3_rankscore=0.463;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.596;MetaLR_rankscore=0.856;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.892;CADD_raw_rankscore=0.408;CADD_phred=21.8;DANN_score=0.994;DANN_rankscore=0.616;fathmm-MKL_coding_score=0.762;fathmm-MKL_coding_rankscore=0.371;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.148;Eigen-PC-raw=-0.203;GenoCanyon_score=0.207;GenoCanyon_score_rankscore=0.182;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.24;GERP++_RS_rankscore=0.493;phyloP100way_vertebrate=2.975;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=7.900;SiPhy_29way_logOdds_rankscore=0.287;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0122;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0058;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0014;AF=0.0084;AF_popmax=0.0104;AF_male=0.0093;AF_female=0.0073;AF_raw=0.0085;AF_afr=0.0017;AF_sas=.;AF_amr=0.0035;AF_eas=0.0064;AF_nfe=0.0104;AF_fin=0.0167;AF_asj=0.0241;AF_oth=0.0101;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.562698;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821821 rs1805127 T C 100 PASS AC=127;AF=0.673922;AN=214;NS=2504;DP=18741;EAS_AF=0.7083;AMR_AF=0.6138;AFR_AF=0.7247;EUR_AF=0.6243;SAS_AF=0.6636;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1B:NM_001330065:exon3:c.A121G:p.S41G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;1000g2015aug_all=0.673922;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805127;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_converted_rankscore=0.066;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.021;VEST3_rankscore=0.289;MetaSVM_score=-0.957;MetaSVM_rankscore=0.397;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.283;REVEL_rankscore=0.605;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.420;CADD_raw_rankscore=0.019;CADD_phred=0.003;DANN_score=0.891;DANN_rankscore=0.179;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_rankscore=0.020;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.414;Eigen-PC-raw=-1.392;GenoCanyon_score=0.008;GenoCanyon_score_rankscore=0.116;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.18;GERP++_RS_rankscore=0.143;phyloP100way_vertebrate=-1.038;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=-0.954;phyloP20way_mammalian_rankscore=0.024;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.877;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6369;ExAC_nontcga_ALL=0.6458;ExAC_nontcga_AFR=0.7114;ExAC_nontcga_AMR=0.5955;ExAC_nontcga_EAS=0.7185;ExAC_nontcga_FIN=0.5624;ExAC_nontcga_NFE=0.6427;ExAC_nontcga_OTH=0.6261;ExAC_nontcga_SAS=0.6542;AF=0.6582;AF_popmax=0.7326;AF_male=0.6615;AF_female=0.6540;AF_raw=0.6582;AF_afr=0.7081;AF_sas=.;AF_amr=0.5591;AF_eas=0.7326;AF_nfe=0.6452;AF_fin=0.5784;AF_asj=0.7153;AF_oth=0.6538;non_topmed_AF_popmax=0.7332;non_neuro_AF_popmax=0.7326;non_cancer_AF_popmax=.;controls_AF_popmax=0.7462;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.420721;ALLELE_END;VINYL_score=0.5 GT 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|0 1|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|0 1|0 0|0 1|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 1|0 0|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 +21 35821849 rs17173510 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=18562;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1\x3bKCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.G84A:p.S28S,KCNE1:NM_001270404:exon2:c.G84A:p.S28S,KCNE1:NM_001127668:exon3:c.G84A:p.S28S,KCNE1:NM_001127669:exon3:c.G84A:p.S28S,KCNE1:NM_001270402:exon3:c.G84A:p.S28S,KCNE1:NM_001270403:exon3:c.G84A:p.S28S,KCNE1:NM_001270405:exon3:c.G84A:p.S28S,KCNE1B:NM_001330065:exon3:c.G93A:p.S31S,KCNE1:NM_000219:exon4:c.G84A:p.S28S;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17173510;CLNALLELEID=176235;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.096e-05;AF=0.0033;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0030;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0020;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0034;Kaviar_AF=0.0039003;Kaviar_AC=603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.547099;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +21 35821939 rs548697948 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21246;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1B:NM_001330065:exon3:c.G3A:p.M1I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548697948;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.846;CADD_raw_rankscore=0.175;CADD_phred=9.743;DANN_score=0.835;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.099;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.371;Eigen-PC-raw=-0.110;GenoCanyon_score=0.019;GenoCanyon_score_rankscore=0.132;integrated_fitCons_score=0.075;integrated_fitCons_score_rankscore=0.013;integrated_confidence_value=0;GERP++_RS=2.25;GERP++_RS_rankscore=0.272;phyloP100way_vertebrate=-0.006;phyloP100way_vertebrate_rankscore=0.127;phyloP20way_mammalian=0.622;phyloP20way_mammalian_rankscore=0.289;phastCons100way_vertebrate=0.022;phastCons100way_vertebrate_rankscore=0.197;phastCons20way_mammalian=0.147;phastCons20way_mammalian_rankscore=0.204;SiPhy_29way_logOdds=3.334;SiPhy_29way_logOdds_rankscore=0.066;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.542e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.977e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.577943;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19864694 rs200619889 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17271;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200619889;CLNALLELEID=378587;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0033;AF=0.0002;AF_popmax=0.0003;AF_male=5.741e-05;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006015;Kaviar_AC=93;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513432|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.545331;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19865925 rs200312334 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22808;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200312334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.471e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513432|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.531187;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19867771 rs1139795 C T 100 PASS AC=41;AF=0.269169;AN=214;NS=2504;DP=18114;EAS_AF=0.0327;AMR_AF=0.1729;AFR_AF=0.6415;EUR_AF=0.1581;SAS_AF=0.1922;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.269169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139795;CLNALLELEID=259119;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.1832;ExAC_nontcga_AFR=0.5673;ExAC_nontcga_AMR=0.1422;ExAC_nontcga_EAS=0.0315;ExAC_nontcga_FIN=0.0962;ExAC_nontcga_NFE=0.1600;ExAC_nontcga_OTH=0.1735;ExAC_nontcga_SAS=0.1945;AF=0.2491;AF_popmax=0.5453;AF_male=0.2551;AF_female=0.2415;AF_raw=0.2493;AF_afr=0.5453;AF_sas=.;AF_amr=0.1592;AF_eas=0.0251;AF_nfe=0.1511;AF_fin=0.0904;AF_asj=0.2483;AF_oth=0.1697;non_topmed_AF_popmax=0.5454;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5460;Kaviar_AF=0.180043;Kaviar_AC=27835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.204044::-0.33228;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.876249;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +22 19868218 rs1139793 A G 100 PASS AC=162;AF=0.718251;AN=214;NS=2504;DP=18718;EAS_AF=0.623;AMR_AF=0.6239;AFR_AF=0.9516;EUR_AF=0.7217;SAS_AF=0.5644;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.718251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139793;CLNALLELEID=259118;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.216;SIFT_converted_rankscore=0.192;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.228;MutationTaster_pred=P;MutationAssessor_score=-0.595;MutationAssessor_score_rankscore=0.022;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_converted_rankscore=0.336;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.120;MetaSVM_score=-0.981;MetaSVM_rankscore=0.349;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.145;REVEL_rankscore=0.391;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.110;CADD_raw_rankscore=0.315;CADD_phred=16.92;DANN_score=0.780;DANN_rankscore=0.117;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.086;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.652;Eigen-PC-raw=-0.427;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.733;integrated_fitCons_score_rankscore=0.969;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=5.829;phyloP100way_vertebrate_rankscore=0.688;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.106;phastCons20way_mammalian_rankscore=0.191;SiPhy_29way_logOdds=13.614;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=ENSG00000232926.1|ENSG00000232926.1|ENSG00000215012.4|ENSG00000232926.1|ENSG00000232926.1;GTEx_V6p_tissue=Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7377;ExAC_nontcga_ALL=0.6957;ExAC_nontcga_AFR=0.9148;ExAC_nontcga_AMR=0.5490;ExAC_nontcga_EAS=0.6040;ExAC_nontcga_FIN=0.6915;ExAC_nontcga_NFE=0.7403;ExAC_nontcga_OTH=0.6822;ExAC_nontcga_SAS=0.5811;AF=0.7665;AF_popmax=0.9158;AF_male=0.7660;AF_female=0.7670;AF_raw=0.7656;AF_afr=0.9158;AF_sas=.;AF_amr=0.6291;AF_eas=0.5757;AF_nfe=0.7309;AF_fin=0.6777;AF_asj=0.7966;AF_oth=0.7264;non_topmed_AF_popmax=0.9154;non_neuro_AF_popmax=0.9131;non_cancer_AF_popmax=.;controls_AF_popmax=0.9106;Kaviar_AF=0.69829;Kaviar_AC=107957;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.253025;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|1 0|0 1|1 0|1 1|0 1|1 0|0 0|1 1|1 1|0 0|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|0 0|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 +22 19868228 rs35544159 G A 100 PASS AC=1;AF=0.0169728;AN=214;NS=2504;DP=18846;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0545;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35544159;CLNALLELEID=259128;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0473;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0007;AF=0.0123;AF_popmax=0.0389;AF_male=0.0127;AF_female=0.0119;AF_raw=0.0123;AF_afr=0.0389;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0022;AF_fin=0.0003;AF_asj=0.0104;AF_oth=0.0074;non_topmed_AF_popmax=0.0389;non_neuro_AF_popmax=0.0417;non_cancer_AF_popmax=.;controls_AF_popmax=0.0421;Kaviar_AF=0.006811;Kaviar_AC=1053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.119797;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19868255 rs34827823 AG A 100 PASS AC=42;AF=0.156749;AN=214;NS=2504;DP=20960;EAS_AF=0.0089;AMR_AF=0.1124;AFR_AF=0.3275;EUR_AF=0.1551;SAS_AF=0.1115;AA=?|GGGGGG|GGGGG|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.156749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34827823;CLNALLELEID=507628;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1610;ExAC_nontcga_ALL=0.1465;ExAC_nontcga_AFR=0.2920;ExAC_nontcga_AMR=0.0938;ExAC_nontcga_EAS=0.0119;ExAC_nontcga_FIN=0.1104;ExAC_nontcga_NFE=0.1644;ExAC_nontcga_OTH=0.1640;ExAC_nontcga_SAS=0.1240;AF=0.1666;AF_popmax=0.2655;AF_male=0.1697;AF_female=0.1628;AF_raw=0.1667;AF_afr=0.2655;AF_sas=.;AF_amr=0.1179;AF_eas=0.0096;AF_nfe=0.1479;AF_fin=0.0898;AF_asj=0.2414;AF_oth=0.1317;non_topmed_AF_popmax=0.2650;non_neuro_AF_popmax=0.2672;non_cancer_AF_popmax=.;controls_AF_popmax=0.2607;Kaviar_AF=0.0045536;Kaviar_AC=704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000666574|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 +22 19870831 rs2239893 C T 100 PASS AC=68;AF=0.221645;AN=214;NS=2504;DP=15669;EAS_AF=0.2758;AMR_AF=0.2435;AFR_AF=0.1233;EUR_AF=0.2903;SAS_AF=0.2127;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2239893;CLNALLELEID=379816;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2962;ExAC_nontcga_ALL=0.2668;ExAC_nontcga_AFR=0.1615;ExAC_nontcga_AMR=0.2197;ExAC_nontcga_EAS=0.2685;ExAC_nontcga_FIN=0.2795;ExAC_nontcga_NFE=0.3064;ExAC_nontcga_OTH=0.2776;ExAC_nontcga_SAS=0.2154;AF=0.2591;AF_popmax=0.3011;AF_male=0.2561;AF_female=0.2629;AF_raw=0.2592;AF_afr=0.1678;AF_sas=.;AF_amr=0.2736;AF_eas=0.2612;AF_nfe=0.3011;AF_fin=0.2818;AF_asj=0.3517;AF_oth=0.2827;non_topmed_AF_popmax=0.3056;non_neuro_AF_popmax=0.3001;non_cancer_AF_popmax=.;controls_AF_popmax=0.3043;Kaviar_AF=0.266141;Kaviar_AC=41146;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.323864::0.288118;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 1|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 1|1 0|0 0|0 1|0 0|1 1|1 1|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 1|1 1|1 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 +22 19871018 rs201897683 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19576;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201897683;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=9.496e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19882984 rs5992495 T G 100 PASS AC=32;AF=0.251198;AN=214;NS=2504;DP=18587;EAS_AF=0.0516;AMR_AF=0.1599;AFR_AF=0.5507;EUR_AF=0.173;SAS_AF=0.1973;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;1000g2015aug_all=0.251198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5992495;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.416;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_converted_rankscore=0.028;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.235;MutationAssessor_score_rankscore=0.039;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_converted_rankscore=0.568;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.210;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.166;MetaSVM_score=-0.952;MetaSVM_rankscore=0.407;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.015;REVEL_rankscore=0.023;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.829;CADD_raw_rankscore=0.010;CADD_phred=0.002;DANN_score=0.245;DANN_rankscore=0.011;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_rankscore=0.053;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.285;Eigen-PC-raw=-2.265;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=-2.79;GERP++_RS_rankscore=0.055;phyloP100way_vertebrate=-0.812;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=-2.460;phyloP20way_mammalian_rankscore=0.003;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.766;SiPhy_29way_logOdds_rankscore=0.081;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=ENSG00000232926.1|ENSG00000184470.15|ENSG00000184470.15|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000232926.1|ENSG00000232926.1|ENSG00000184470.15|ENSG00000184470.15;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1662;ExAC_nontcga_ALL=0.1867;ExAC_nontcga_AFR=0.5140;ExAC_nontcga_AMR=0.1375;ExAC_nontcga_EAS=0.0657;ExAC_nontcga_FIN=0.1259;ExAC_nontcga_NFE=0.1653;ExAC_nontcga_OTH=0.1797;ExAC_nontcga_SAS=0.2041;AF=0.2504;AF_popmax=0.5166;AF_male=0.2500;AF_female=0.2509;AF_raw=0.2507;AF_afr=0.5166;AF_sas=.;AF_amr=0.1277;AF_eas=0.0584;AF_nfe=0.1588;AF_fin=0.1315;AF_asj=0.1910;AF_oth=0.1891;non_topmed_AF_popmax=0.5171;non_neuro_AF_popmax=0.5154;non_cancer_AF_popmax=.;controls_AF_popmax=0.5234;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.206439::-0.573061;Heart_Left_Ventricle=Heart_Left_Ventricle::0.209559::-0.436539;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944307|N/A|ZNF263|PAZAR,OREG1513448|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4.5 GT 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19883123 rs189646218 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20736;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189646218;CLNALLELEID=507481;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +22 19885548 rs12169091 G T 100 PASS AC=32;AF=0.242212;AN=214;NS=2504;DP=15961;EAS_AF=0.0516;AMR_AF=0.1556;AFR_AF=0.5197;EUR_AF=0.172;SAS_AF=0.1973;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242212;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12169091;CLNALLELEID=378611;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1568;ExAC_nontcga_ALL=0.2448;ExAC_nontcga_AFR=0.5076;ExAC_nontcga_AMR=0.2548;ExAC_nontcga_EAS=0.1047;ExAC_nontcga_FIN=0.3077;ExAC_nontcga_NFE=0.2206;ExAC_nontcga_OTH=0.1970;ExAC_nontcga_SAS=0.2130;AF=0.2402;AF_popmax=0.4804;AF_male=0.2383;AF_female=0.2425;AF_raw=0.2405;AF_afr=0.4804;AF_sas=.;AF_amr=0.1265;AF_eas=0.0584;AF_nfe=0.1585;AF_fin=0.1314;AF_asj=0.1897;AF_oth=0.1875;non_topmed_AF_popmax=0.4808;non_neuro_AF_popmax=0.4772;non_cancer_AF_popmax=.;controls_AF_popmax=0.4837;Kaviar_AF=0.111493;Kaviar_AC=17237;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204545::-0.561474;Heart_Left_Ventricle=Heart_Left_Ventricle::0.205882::-0.437179;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513442|N/A|EGR1|PAZAR,OREG1944316|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19898818 rs55715863 C A 100 PASS AC=1;AF=0.0483227;AN=214;NS=2504;DP=17212;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.062;EUR_AF=0.0229;SAS_AF=0.0951;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0483227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55715863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0296;AF_popmax=0.0541;AF_male=0.0300;AF_female=0.0291;AF_raw=0.0297;AF_afr=0.0541;AF_sas=.;AF_amr=0.0236;AF_eas=0.0334;AF_nfe=0.0194;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0539;non_neuro_AF_popmax=0.0565;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0060543;Kaviar_AC=936;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.032197::-0.68085;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19898837 rs885987 A G 100 PASS AC=116;AF=0.751198;AN=214;NS=2504;DP=17208;EAS_AF=0.9157;AMR_AF=0.7205;AFR_AF=0.7814;EUR_AF=0.5646;SAS_AF=0.7546;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.751198;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs885987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5632;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6587;AF_popmax=0.9339;AF_male=0.6603;AF_female=0.6567;AF_raw=0.6583;AF_afr=0.7811;AF_sas=.;AF_amr=0.7465;AF_eas=0.9339;AF_nfe=0.5672;AF_fin=0.6268;AF_asj=0.6621;AF_oth=0.6118;non_topmed_AF_popmax=0.9329;non_neuro_AF_popmax=0.9339;non_cancer_AF_popmax=.;controls_AF_popmax=0.9378;Kaviar_AF=0.124701;Kaviar_AC=19279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19898886 rs9606176 C T 100 PASS AC=18;AF=0.171526;AN=214;NS=2504;DP=18445;EAS_AF=0.2391;AMR_AF=0.1772;AFR_AF=0.1672;EUR_AF=0.1093;SAS_AF=0.1677;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.171526;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9606176;CLNALLELEID=378693;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0903;ExAC_nontcga_ALL=0.1325;ExAC_nontcga_AFR=0.1461;ExAC_nontcga_AMR=0.2201;ExAC_nontcga_EAS=0.2241;ExAC_nontcga_FIN=0.1542;ExAC_nontcga_NFE=0.0892;ExAC_nontcga_OTH=0.1319;ExAC_nontcga_SAS=0.1571;AF=0.1347;AF_popmax=0.2216;AF_male=0.1378;AF_female=0.1307;AF_raw=0.1347;AF_afr=0.1509;AF_sas=.;AF_amr=0.1863;AF_eas=0.2216;AF_nfe=0.1066;AF_fin=0.1665;AF_asj=0.1207;AF_oth=0.1402;non_topmed_AF_popmax=0.2213;non_neuro_AF_popmax=0.2216;non_cancer_AF_popmax=.;controls_AF_popmax=0.2050;Kaviar_AF=0.125839;Kaviar_AC=19455;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19898887 rs45550336 G A 100 PASS AC=1;AF=0.048123;AN=214;NS=2504;DP=18406;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.0613;EUR_AF=0.0229;SAS_AF=0.0951;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.048123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45550336;CLNALLELEID=378615;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0214;ExAC_nontcga_ALL=0.0360;ExAC_nontcga_AFR=0.0571;ExAC_nontcga_AMR=0.0461;ExAC_nontcga_EAS=0.0396;ExAC_nontcga_FIN=0.0120;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0828;AF=0.0296;AF_popmax=0.0543;AF_male=0.0300;AF_female=0.0291;AF_raw=0.0297;AF_afr=0.0543;AF_sas=.;AF_amr=0.0236;AF_eas=0.0328;AF_nfe=0.0193;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0541;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0577;Kaviar_AF=0.0331432;Kaviar_AC=5124;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.032197::-0.68085;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19899061 rs16982754 G C 100 PASS AC=1;AF=0.0483227;AN=214;NS=2504;DP=19512;EAS_AF=0.0208;AMR_AF=0.0331;AFR_AF=0.062;EUR_AF=0.0229;SAS_AF=0.0951;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0483227;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16982754;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0295;AF_popmax=0.0541;AF_male=0.0300;AF_female=0.0290;AF_raw=0.0297;AF_afr=0.0541;AF_sas=.;AF_amr=0.0236;AF_eas=0.0340;AF_nfe=0.0191;AF_fin=0.0130;AF_asj=0.0310;AF_oth=0.0314;non_topmed_AF_popmax=0.0539;non_neuro_AF_popmax=0.0567;non_cancer_AF_popmax=.;controls_AF_popmax=0.0576;Kaviar_AF=0.0058731;Kaviar_AC=908;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0323194::-0.679141;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19902671 rs16982755 C T 100 PASS AC=8;AF=0.0585064;AN=214;NS=2504;DP=19364;EAS_AF=0.0208;AMR_AF=0.0562;AFR_AF=0.062;EUR_AF=0.0517;SAS_AF=0.1012;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0585064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16982755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0525;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0436;AF_popmax=0.0581;AF_male=0.0448;AF_female=0.0420;AF_raw=0.0437;AF_afr=0.0581;AF_sas=.;AF_amr=0.0295;AF_eas=0.0340;AF_nfe=0.0422;AF_fin=0.0187;AF_asj=0.0552;AF_oth=0.0478;non_topmed_AF_popmax=0.0581;non_neuro_AF_popmax=0.0597;non_cancer_AF_popmax=.;controls_AF_popmax=0.0615;Kaviar_AF=0.0100063;Kaviar_AC=1547;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0738636::-0.583003;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19902896 rs2073771 C T 100 PASS AC=76;AF=0.507987;AN=214;NS=2504;DP=17202;EAS_AF=0.8829;AMR_AF=0.5432;AFR_AF=0.3222;EUR_AF=0.3559;SAS_AF=0.5041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.507987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2073771;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4064;AF_popmax=0.8900;AF_male=0.4077;AF_female=0.4047;AF_raw=0.4061;AF_afr=0.3167;AF_sas=.;AF_amr=0.6147;AF_eas=0.8900;AF_nfe=0.3788;AF_fin=0.4801;AF_asj=0.4545;AF_oth=0.4107;non_topmed_AF_popmax=0.8885;non_neuro_AF_popmax=0.8900;non_cancer_AF_popmax=.;controls_AF_popmax=0.8904;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 1|0 +22 19905802 rs756661 G A 100 PASS AC=114;AF=0.7498;AN=214;NS=2504;DP=24028;EAS_AF=0.9177;AMR_AF=0.7205;AFR_AF=0.7799;EUR_AF=0.5596;SAS_AF=0.7526;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.7498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs756661;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5597;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6569;AF_popmax=0.9337;AF_male=0.6587;AF_female=0.6547;AF_raw=0.6564;AF_afr=0.7803;AF_sas=.;AF_amr=0.7411;AF_eas=0.9337;AF_nfe=0.5647;AF_fin=0.6269;AF_asj=0.6552;AF_oth=0.6105;non_topmed_AF_popmax=0.9327;non_neuro_AF_popmax=0.9337;non_cancer_AF_popmax=.;controls_AF_popmax=0.9376;Kaviar_AF=0.119746;Kaviar_AC=18513;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19906367 rs141500917 G T 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=16236;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141500917;CLNALLELEID=507501;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0073;AF=9.592e-05;AF_popmax=0.0012;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.001119;Kaviar_AC=173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19906370 rs9606178 G A 100 PASS AC=7;AF=0.0297524;AN=214;NS=2504;DP=16094;EAS_AF=0.002;AMR_AF=0.0461;AFR_AF=0.0008;EUR_AF=0.0298;SAS_AF=0.0859;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0297524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9606178;CLNALLELEID=379819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0297;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0458;ExAC_nontcga_EAS=0.0115;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0245;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0790;AF=0.0161;AF_popmax=0.0232;AF_male=0.0176;AF_female=0.0142;AF_raw=0.0161;AF_afr=0.0061;AF_sas=.;AF_amr=0.0224;AF_eas=0.0122;AF_nfe=0.0232;AF_fin=0.0066;AF_asj=0.0241;AF_oth=0.0248;non_topmed_AF_popmax=0.0222;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0298573;Kaviar_AC=4616;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +22 19906511 rs11541479 G A 100 PASS AC=30;AF=0.168131;AN=214;NS=2504;DP=14454;EAS_AF=0.0129;AMR_AF=0.1167;AFR_AF=0.3661;EUR_AF=0.1531;SAS_AF=0.1125;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;1000g2015aug_all=0.168131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11541479;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1476;ExAC_nontcga_ALL=0.1437;ExAC_nontcga_AFR=0.3773;ExAC_nontcga_AMR=0.0835;ExAC_nontcga_EAS=0.0119;ExAC_nontcga_FIN=0.1250;ExAC_nontcga_NFE=0.1502;ExAC_nontcga_OTH=0.1572;ExAC_nontcga_SAS=0.1154;AF=0.1983;AF_popmax=0.3758;AF_male=0.1955;AF_female=0.2019;AF_raw=0.1982;AF_afr=0.3758;AF_sas=.;AF_amr=0.0946;AF_eas=0.0097;AF_nfe=0.1440;AF_fin=0.1258;AF_asj=0.1448;AF_oth=0.1493;non_topmed_AF_popmax=0.3750;non_neuro_AF_popmax=0.3807;non_cancer_AF_popmax=.;controls_AF_popmax=0.3817;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.153409::-0.448377;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.105989;ALLELE_END;VINYL_score=3 GT 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +22 19907099 rs5748469 C A 100 PASS AC=76;AF=0.483027;AN=214;NS=2504;DP=19907;EAS_AF=0.869;AMR_AF=0.5346;AFR_AF=0.2171;EUR_AF=0.3549;SAS_AF=0.5399;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;1000g2015aug_all=0.483027;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748469;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.019;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=P;MutationAssessor_score=4.075;MutationAssessor_score_rankscore=0.972;MutationAssessor_pred=H;FATHMM_score=0.26;FATHMM_converted_rankscore=0.593;FATHMM_pred=T;PROVEAN_score=-2.1;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.238;MetaSVM_score=-0.955;MetaSVM_rankscore=0.400;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.388;REVEL_rankscore=0.708;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.178;CADD_raw_rankscore=0.852;CADD_phred=28.6;DANN_score=0.996;DANN_rankscore=0.761;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.664;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.771;Eigen-PC-raw=0.621;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.428;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.96;GERP++_RS_rankscore=0.449;phyloP100way_vertebrate=2.820;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=15.975;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3312;ExAC_nontcga_ALL=0.4530;ExAC_nontcga_AFR=0.2670;ExAC_nontcga_AMR=0.5776;ExAC_nontcga_EAS=0.7922;ExAC_nontcga_FIN=0.4653;ExAC_nontcga_NFE=0.4121;ExAC_nontcga_OTH=0.4877;ExAC_nontcga_SAS=0.4973;AF=0.3822;AF_popmax=0.8735;AF_male=0.3830;AF_female=0.3812;AF_raw=0.3832;AF_afr=0.2394;AF_sas=.;AF_amr=0.6031;AF_eas=0.8735;AF_nfe=0.3760;AF_fin=0.4795;AF_asj=0.4517;AF_oth=0.4068;non_topmed_AF_popmax=0.8723;non_neuro_AF_popmax=0.8735;non_cancer_AF_popmax=.;controls_AF_popmax=0.8733;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.222680;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 0|0 1|1 1|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 1|0 1|0 +22 19907118 rs5748470 G A 100 PASS AC=105;AF=0.596845;AN=214;NS=2504;DP=20192;EAS_AF=0.881;AMR_AF=0.6297;AFR_AF=0.3918;EUR_AF=0.506;SAS_AF=0.6513;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;1000g2015aug_all=0.596845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748470;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4793;ExAC_nontcga_ALL=0.5704;ExAC_nontcga_AFR=0.4333;ExAC_nontcga_AMR=0.6257;ExAC_nontcga_EAS=0.8033;ExAC_nontcga_FIN=0.5712;ExAC_nontcga_NFE=0.5443;ExAC_nontcga_OTH=0.6337;ExAC_nontcga_SAS=0.6158;AF=0.5231;AF_popmax=0.8830;AF_male=0.5199;AF_female=0.5270;AF_raw=0.5234;AF_afr=0.4120;AF_sas=.;AF_amr=0.6865;AF_eas=0.8830;AF_nfe=0.5194;AF_fin=0.6058;AF_asj=0.5966;AF_oth=0.5398;non_topmed_AF_popmax=0.882;non_neuro_AF_popmax=0.8830;non_cancer_AF_popmax=.;controls_AF_popmax=0.8833;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1944319|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.062314;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19907192 rs5748471 A G 100 PASS AC=113;AF=0.754393;AN=214;NS=2504;DP=19331;EAS_AF=0.9177;AMR_AF=0.7205;AFR_AF=0.798;EUR_AF=0.5586;SAS_AF=0.7526;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5748471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5575;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6623;AF_popmax=0.9348;AF_male=0.6642;AF_female=0.6601;AF_raw=0.6616;AF_afr=0.7987;AF_sas=.;AF_amr=0.7453;AF_eas=0.9348;AF_nfe=0.5652;AF_fin=0.6251;AF_asj=0.6528;AF_oth=0.6125;non_topmed_AF_popmax=0.9339;non_neuro_AF_popmax=0.9348;non_cancer_AF_popmax=.;controls_AF_popmax=0.9396;Kaviar_AF=0.106415;Kaviar_AC=16452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944319|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 1|0 1|1 1|1 0|0 0|0 0|1 0|1 1|0 1|1 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 0|1 1|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 +22 19918723 rs79960807 G A 100 PASS AC=10;AF=0.0107827;AN=214;NS=2504;DP=19965;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0015;EUR_AF=0.0368;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79960807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0190;AF_popmax=0.0288;AF_male=0.0187;AF_female=0.0193;AF_raw=0.0190;AF_afr=0.0044;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0288;AF_fin=0.0173;AF_asj=0.0172;AF_oth=0.0268;non_topmed_AF_popmax=0.0299;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0321;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1272801|N/A|SMARCA4|PAZAR,OREG1513434|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 39224112 rs8192671 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon19:c.A3032G:p.N1011S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8192671;CLNALLELEID=49186;CLNDN=Noonan_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.6;MutationAssessor_score_rankscore=0.156;MutationAssessor_pred=N;FATHMM_score=1.55;FATHMM_converted_rankscore=0.299;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.095;VEST3_rankscore=0.101;MetaSVM_score=-1.118;MetaSVM_rankscore=0.025;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.216;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.136;M-CAP_pred=T;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.576;CADD_raw_rankscore=0.251;CADD_phred=13.72;DANN_score=0.997;DANN_rankscore=0.789;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.735;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.065;Eigen-PC-raw=0.123;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.42;GERP++_RS_rankscore=0.786;phyloP100way_vertebrate=5.799;phyloP100way_vertebrate_rankscore=0.685;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.464;SiPhy_29way_logOdds_rankscore=0.750;Interpro_domain=Ras_guanine_nucleotide_exchange_factor_domain|Ras_guanine-nucleotide_exchange_factors_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0005;AF=0.0026;AF_popmax=0.0040;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0014;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;Kaviar_AF=0.0017852;Kaviar_AC=276;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.676631;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39224351 rs1454223 G T 100 PASS AC=199;AF=0.90016;AN=214;NS=2504;DP=15333;EAS_AF=0.8393;AMR_AF=0.9452;AFR_AF=0.9546;EUR_AF=0.9364;SAS_AF=0.82;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.90016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1454223;CLNALLELEID=250731;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9369;ExAC_nontcga_ALL=0.9171;ExAC_nontcga_AFR=0.9634;ExAC_nontcga_AMR=0.9580;ExAC_nontcga_EAS=0.8234;ExAC_nontcga_FIN=0.9671;ExAC_nontcga_NFE=0.9336;ExAC_nontcga_OTH=0.9145;ExAC_nontcga_SAS=0.8352;AF=0.9438;AF_popmax=0.9639;AF_male=0.9434;AF_female=0.9443;AF_raw=0.9437;AF_afr=0.9639;AF_sas=.;AF_amr=0.9528;AF_eas=0.8146;AF_nfe=0.9399;AF_fin=0.9718;AF_asj=0.9034;AF_oth=0.9366;non_topmed_AF_popmax=0.9638;non_neuro_AF_popmax=0.9651;non_cancer_AF_popmax=.;controls_AF_popmax=0.9638;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39224614 rs540132304 A G 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=14646;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0123;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540132304;CLNALLELEID=250732;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0189;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0395;ExAC_nontcga_OTH=0.0614;ExAC_nontcga_SAS=0.0297;AF=0.0081;AF_popmax=0.0304;AF_male=0.0086;AF_female=0.0073;AF_raw=0.0037;AF_afr=0.0004;AF_sas=.;AF_amr=0.0088;AF_eas=0;AF_nfe=0.0304;AF_fin=0.0102;AF_asj=0.0167;AF_oth=0.0213;non_topmed_AF_popmax=0.0302;non_neuro_AF_popmax=0.0311;non_cancer_AF_popmax=.;controls_AF_popmax=0.0425;Kaviar_AF=0.0034152;Kaviar_AC=528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.538457;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39224615 rs5830551 G GT 100 PASS AC=199;AF=0.787939;AN=214;NS=2504;DP=14597;EAS_AF=0.8244;AMR_AF=0.8934;AFR_AF=0.5703;EUR_AF=0.9354;SAS_AF=0.818;AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.787939;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs869215095;CLNALLELEID=250733;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9326;ExAC_nontcga_ALL=0.8836;ExAC_nontcga_AFR=0.6080;ExAC_nontcga_AMR=0.9420;ExAC_nontcga_EAS=0.8166;ExAC_nontcga_FIN=0.9655;ExAC_nontcga_NFE=0.9317;ExAC_nontcga_OTH=0.9021;ExAC_nontcga_SAS=0.8326;AF=0.8431;AF_popmax=0.9396;AF_male=0.8394;AF_female=0.8478;AF_raw=0.8424;AF_afr=0.6090;AF_sas=.;AF_amr=0.9308;AF_eas=0.8077;AF_nfe=0.9396;AF_fin=0.9715;AF_asj=0.8993;AF_oth=0.9054;non_topmed_AF_popmax=0.9403;non_neuro_AF_popmax=0.9403;non_cancer_AF_popmax=.;controls_AF_popmax=0.9472;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.538457;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39233500 rs7577088 G A 100 PASS AC=199;AF=0.905152;AN=214;NS=2504;DP=15529;EAS_AF=0.8403;AMR_AF=0.9452;AFR_AF=0.9766;EUR_AF=0.9334;SAS_AF=0.818;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.905152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7577088;CLNALLELEID=178349;CLNDN=Noonan_syndrome;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9461;AF_popmax=0.9747;AF_male=0.9456;AF_female=0.9469;AF_raw=0.9460;AF_afr=0.9747;AF_sas=.;AF_amr=0.9538;AF_eas=0.8153;AF_nfe=0.9387;AF_fin=0.9715;AF_asj=0.9;AF_oth=0.9357;non_topmed_AF_popmax=0.9746;non_neuro_AF_popmax=0.9743;non_cancer_AF_popmax=.;controls_AF_popmax=0.9740;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.945279;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39239386 rs201235910 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12607;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon14:c.A2271C:p.S757S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201235910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.715627;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39240758 rs560278306 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18307;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560278306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.932330;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39241107 rs56219475 G A 100 PASS AC=4;AF=0.00319489;AN=214;NS=2504;DP=14941;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon12:c.C1964T:p.P655L;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56219475;CLNALLELEID=49162;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.306;SIFT_converted_rankscore=0.142;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.065;Polyphen2_HVAR_rankscore=0.259;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.433;PROVEAN_pred=N;VEST3_score=0.352;VEST3_rankscore=0.413;MetaSVM_score=-1.067;MetaSVM_rankscore=0.101;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.282;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.091;REVEL_rankscore=0.269;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.732;CADD_raw_rankscore=0.269;CADD_phred=14.59;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_rankscore=0.597;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.026;Eigen-PC-raw=0.213;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=5.443;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.088;SiPhy_29way_logOdds_rankscore=0.978;Interpro_domain=Ras_guanine_nucleotide_exchange_factor_domain|Ras-like_guanine_nucleotide_exchange_factor,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0078;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0116;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0009;AF=0.0086;AF_popmax=0.0107;AF_male=0.0091;AF_female=0.0080;AF_raw=0.0086;AF_afr=0.0039;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0158;AF_asj=0.0035;AF_oth=0.0120;non_topmed_AF_popmax=0.0109;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.731899;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39249896 rs201624023 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18264;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon10:c.T1673C:p.M558T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201624023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.572;Polyphen2_HDIV_rankscore=0.367;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.37;Polyphen2_HVAR_rankscore=0.418;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.41;MutationAssessor_score_rankscore=0.124;MutationAssessor_pred=N;FATHMM_score=-2.26;FATHMM_converted_rankscore=0.874;FATHMM_pred=D;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.369;VEST3_rankscore=0.439;MetaSVM_score=0.222;MetaSVM_rankscore=0.863;MetaSVM_pred=D;MetaLR_score=0.585;MetaLR_rankscore=0.851;MetaLR_pred=D;M-CAP_score=0.093;M-CAP_rankscore=0.762;M-CAP_pred=D;REVEL_score=0.493;REVEL_rankscore=0.782;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.765;CADD_raw_rankscore=0.393;CADD_phred=21.2;DANN_score=0.989;DANN_rankscore=0.480;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.326;Eigen-PC-raw=0.455;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=7.385;phyloP100way_vertebrate_rankscore=0.789;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.103;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=PH_domain-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.762476;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39250386 rs112906251 A G 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=18788;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0129;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112906251;CLNALLELEID=142938;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0089;ExAC_nontcga_AMR=0.0163;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0179;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0292;ExAC_nontcga_SAS=0.0020;AF=0.0104;AF_popmax=0.0201;AF_male=0.0105;AF_female=0.0101;AF_raw=0.0104;AF_afr=0.0115;AF_sas=.;AF_amr=0.0201;AF_eas=0;AF_nfe=0.0086;AF_fin=0.0164;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0198;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0091396;Kaviar_AC=1413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.552488;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39262348 rs145155424 C G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=13915;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145155424;CLNALLELEID=54510;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.2881;dbscSNV_RF_SCORE=0.442;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0075;ExAC_nontcga_NFE=0.0170;ExAC_nontcga_OTH=0.0070;ExAC_nontcga_SAS=0.0002;AF=0.0097;AF_popmax=0.0153;AF_male=0.0087;AF_female=0.0109;AF_raw=0.0097;AF_afr=0.0016;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0153;AF_fin=0.0084;AF_asj=0.0069;AF_oth=0.0175;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0158;non_cancer_AF_popmax=.;controls_AF_popmax=0.0253;Kaviar_AF=0.0076519;Kaviar_AC=1183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329274;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39278394 rs142094234 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17309;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon6:c.T755C:p.I252T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142094234;CLNALLELEID=486897;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.674;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.749;Polyphen2_HVAR_rankscore=0.542;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.695;MutationAssessor_score_rankscore=0.791;MutationAssessor_pred=M;FATHMM_score=-3.8;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-4.24;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.929;VEST3_rankscore=0.946;MetaSVM_score=1.027;MetaSVM_rankscore=0.977;MetaSVM_pred=D;MetaLR_score=0.910;MetaLR_rankscore=0.970;MetaLR_pred=D;M-CAP_score=0.387;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.935;REVEL_rankscore=0.986;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.873;CADD_raw_rankscore=0.805;CADD_phred=27.4;DANN_score=0.998;DANN_rankscore=0.909;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.910;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.699;Eigen-PC-raw=0.723;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.541;SiPhy_29way_logOdds_rankscore=0.757;Interpro_domain=Dbl_homology_(DH)_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.479e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=9.205e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712627;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39278497 rs191328262 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15618;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191328262;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0006;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.176011;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39281730 rs997344 G C 100 PASS AC=199;AF=0.891374;AN=214;NS=2504;DP=16872;EAS_AF=0.8393;AMR_AF=0.9107;AFR_AF=0.975;EUR_AF=0.9056;SAS_AF=0.8037;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.891374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs997344;CLNALLELEID=178351;CLNDN=Noonan_syndrome|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9209;ExAC_nontcga_ALL=0.8991;ExAC_nontcga_AFR=0.9739;ExAC_nontcga_AMR=0.9360;ExAC_nontcga_EAS=0.8292;ExAC_nontcga_FIN=0.9051;ExAC_nontcga_NFE=0.9118;ExAC_nontcga_OTH=0.8830;ExAC_nontcga_SAS=0.8245;AF=0.9279;AF_popmax=0.9721;AF_male=0.9280;AF_female=0.9276;AF_raw=0.9278;AF_afr=0.9721;AF_sas=.;AF_amr=0.9208;AF_eas=0.8190;AF_nfe=0.9190;AF_fin=0.9171;AF_asj=0.8897;AF_oth=0.9053;non_topmed_AF_popmax=0.9722;non_neuro_AF_popmax=0.9711;non_cancer_AF_popmax=.;controls_AF_popmax=0.9709;Kaviar_AF=0.882977;Kaviar_AC=136510;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 +2 39281905 rs55980502 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=16514;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon5:c.C570T:p.D190D;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980502;CLNALLELEID=49125;CLNDN=Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0028;AF_popmax=0.0034;AF_male=0.0027;AF_female=0.0030;AF_raw=0.0028;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0072;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0022703;Kaviar_AC=351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.645939;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39283784 rs180918477 G C 100 PASS AC=4;AF=0.00658946;AN=214;NS=2504;DP=14779;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0099;SAS_AF=0.0194;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs180918477;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0114;AF_popmax=0.0189;AF_male=0.0105;AF_female=0.0126;AF_raw=0.0114;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0189;AF_fin=0.0090;AF_asj=0.0034;AF_oth=0.0157;non_topmed_AF_popmax=0.0208;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0259;Kaviar_AF=0.0023674;Kaviar_AC=366;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.839047;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +2 39285762 rs41280639 G C 100 PASS AC=6;AF=0.0515176;AN=214;NS=2504;DP=15283;EAS_AF=0.0278;AMR_AF=0.0548;AFR_AF=0.1316;EUR_AF=0.0129;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0515176;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41280639;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0429;AF_popmax=0.1237;AF_male=0.0456;AF_female=0.0396;AF_raw=0.0431;AF_afr=0.1237;AF_sas=.;AF_amr=0.0213;AF_eas=0.0135;AF_nfe=0.0116;AF_fin=0.0058;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.1233;non_neuro_AF_popmax=0.1274;non_cancer_AF_popmax=.;controls_AF_popmax=0.1249;Kaviar_AF=0.0041849;Kaviar_AC=647;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247580|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.281481;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 39347388 rs56263073 GC G 100 PASS AC=12;AF=0.0135783;AN=214;NS=2504;DP=8075;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0268;SAS_AF=0.0286;AA=CCC|CCC|CC|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56263073;CLNALLELEID=552541;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0137;AF_popmax=0.0221;AF_male=0.0139;AF_female=0.0135;AF_raw=0.0139;AF_afr=0.0030;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0221;AF_fin=0.0066;AF_asj=0.0104;AF_oth=0.0250;non_topmed_AF_popmax=0.0217;non_neuro_AF_popmax=0.0222;non_cancer_AF_popmax=.;controls_AF_popmax=0.0197;Kaviar_AF=0.0028431;Kaviar_AC=74;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000115638|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1165803|N/A|TFAP2C|PAZAR,OREG1247587|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.690461;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 47389342 rs3729954 A C 100 PASS AC=20;AF=0.205072;AN=214;NS=2504;DP=20191;EAS_AF=0.0337;AMR_AF=0.1744;AFR_AF=0.4312;EUR_AF=0.0706;SAS_AF=0.2362;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.205072;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729954;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1516;AF_popmax=0.3685;AF_male=0.1543;AF_female=0.1482;AF_raw=0.1357;AF_afr=0.3685;AF_sas=.;AF_amr=0.1794;AF_eas=0.0146;AF_nfe=0.0744;AF_fin=0.0330;AF_asj=0.0543;AF_oth=0.1037;non_topmed_AF_popmax=0.3676;non_neuro_AF_popmax=0.3731;non_cancer_AF_popmax=.;controls_AF_popmax=0.3656;Kaviar_AF=0.0157372;Kaviar_AC=2433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 +2 47389467 rs141298844 G A 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=17968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALM2:NM_001305626:exon3:c.C135T:p.D45D,CALM2:NM_001305625:exon4:c.C135T:p.D45D,CALM2:NM_001743:exon4:c.C243T:p.D81D,CALM2:NM_001305624:exon5:c.C387T:p.D129D;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141298844;CLNALLELEID=238773;CLNDN=Long_QT_syndrome_1|not_specified;CLNDISDB=MedGen:C4551647,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.064076;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 47389842 rs114530537 T C 100 PASS AC=2;AF=0.00559105;AN=214;NS=2504;DP=18161;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0189;EUR_AF=0.002;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114530537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0299;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0003;AF=0.0071;AF_popmax=0.0248;AF_male=0.0080;AF_female=0.0060;AF_raw=0.0071;AF_afr=0.0248;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0249;non_neuro_AF_popmax=0.0213;non_cancer_AF_popmax=.;controls_AF_popmax=0.0214;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 105977761 rs11124029 G A 100 PASS AC=40;AF=0.111422;AN=214;NS=2504;DP=20874;EAS_AF=0.0258;AMR_AF=0.1614;AFR_AF=0.0809;EUR_AF=0.1988;SAS_AF=0.1155;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon5:c.C477T:p.P159P,FHL2:NM_001318894:exon6:c.C819T:p.P273P,FHL2:NM_001318896:exon6:c.C819T:p.P273P,FHL2:NM_001318898:exon6:c.C477T:p.P159P,FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_001318895:exon7:c.C819T:p.P273P,FHL2:NM_001318899:exon8:c.C495T:p.P165P,FHL2:NM_201555:exon8:c.C819T:p.P273P;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11124029;CLNALLELEID=57494;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1959;ExAC_nontcga_ALL=0.1551;ExAC_nontcga_AFR=0.0986;ExAC_nontcga_AMR=0.0802;ExAC_nontcga_EAS=0.0247;ExAC_nontcga_FIN=0.2430;ExAC_nontcga_NFE=0.1949;ExAC_nontcga_OTH=0.1787;ExAC_nontcga_SAS=0.1315;AF=0.1624;AF_popmax=0.1926;AF_male=0.1573;AF_female=0.1688;AF_raw=0.1625;AF_afr=0.1049;AF_sas=.;AF_amr=0.1050;AF_eas=0.0237;AF_nfe=0.1926;AF_fin=0.2396;AF_asj=0.2414;AF_oth=0.1710;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1923;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.157094;Kaviar_AC=24287;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.130399;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 +2 105977776 rs3087523 G A 100 PASS AC=25;AF=0.0517173;AN=214;NS=2504;DP=20376;EAS_AF=0.0238;AMR_AF=0.1066;AFR_AF=0.0068;EUR_AF=0.1103;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon5:c.C462T:p.D154D,FHL2:NM_001318894:exon6:c.C804T:p.D268D,FHL2:NM_001318896:exon6:c.C804T:p.D268D,FHL2:NM_001318898:exon6:c.C462T:p.D154D,FHL2:NM_001450:exon6:c.C804T:p.D268D,FHL2:NM_201557:exon6:c.C804T:p.D268D,FHL2:NM_001039492:exon7:c.C804T:p.D268D,FHL2:NM_001318895:exon7:c.C804T:p.D268D,FHL2:NM_001318899:exon8:c.C480T:p.D160D,FHL2:NM_201555:exon8:c.C804T:p.D268D;1000g2015aug_all=0.0517173;GWAS=rs3087523|Body-mass-index||1E-8|PMID:30595370;ORegAnno_REGULATORY_P=rs3087523|Body-mass-index||1E-8|PMID:30595370;avsnp150=rs3087523;CLNALLELEID=57493;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1270;ExAC_nontcga_ALL=0.0895;ExAC_nontcga_AFR=0.0211;ExAC_nontcga_AMR=0.0968;ExAC_nontcga_EAS=0.0287;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1187;ExAC_nontcga_OTH=0.0937;ExAC_nontcga_SAS=0.0540;AF=0.0861;AF_popmax=0.1181;AF_male=0.0833;AF_female=0.0896;AF_raw=0.0861;AF_afr=0.0274;AF_sas=.;AF_amr=0.1028;AF_eas=0.0244;AF_nfe=0.1181;AF_fin=0.1113;AF_asj=0.0862;AF_oth=0.0976;non_topmed_AF_popmax=0.1168;non_neuro_AF_popmax=0.1167;non_cancer_AF_popmax=.;controls_AF_popmax=0.1034;Kaviar_AF=0.0922368;Kaviar_AC=14260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.218007;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 105977903 rs2244182 G C 100 PASS AC=25;AF=0.305511;AN=214;NS=2504;DP=21056;EAS_AF=0.5367;AMR_AF=0.2334;AFR_AF=0.3548;EUR_AF=0.1362;SAS_AF=0.226;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244182;CLNALLELEID=57491;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.062;esp6500siv2_ea=0.1364;ExAC_nontcga_ALL=0.2112;ExAC_nontcga_AFR=0.3458;ExAC_nontcga_AMR=0.3112;ExAC_nontcga_EAS=0.5592;ExAC_nontcga_FIN=0.1355;ExAC_nontcga_NFE=0.1299;ExAC_nontcga_OTH=0.2064;ExAC_nontcga_SAS=0.2010;AF=0.2181;AF_popmax=0.5663;AF_male=0.2229;AF_female=0.2119;AF_raw=0.2183;AF_afr=0.3284;AF_sas=.;AF_amr=0.2541;AF_eas=0.5663;AF_nfe=0.1415;AF_fin=0.1416;AF_asj=0.0966;AF_oth=0.1728;non_topmed_AF_popmax=0.5640;non_neuro_AF_popmax=0.5663;non_cancer_AF_popmax=.;controls_AF_popmax=0.5613;Kaviar_AF=0.200567;Kaviar_AC=31008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1542996|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 105979730 rs2278502 C A 100 PASS AC=81;AF=0.277356;AN=214;NS=2504;DP=21239;EAS_AF=0.2173;AMR_AF=0.3285;AFR_AF=0.1415;EUR_AF=0.3867;SAS_AF=0.3742;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.277356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278502;CLNALLELEID=57489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3766;ExAC_nontcga_ALL=0.3325;ExAC_nontcga_AFR=0.1759;ExAC_nontcga_AMR=0.2403;ExAC_nontcga_EAS=0.1870;ExAC_nontcga_FIN=0.3824;ExAC_nontcga_NFE=0.3791;ExAC_nontcga_OTH=0.3149;ExAC_nontcga_SAS=0.3786;AF=0.3134;AF_popmax=0.3797;AF_male=0.3097;AF_female=0.3179;AF_raw=0.3132;AF_afr=0.1883;AF_sas=.;AF_amr=0.3054;AF_eas=0.1955;AF_nfe=0.3797;AF_fin=0.3720;AF_asj=0.3414;AF_oth=0.3554;non_topmed_AF_popmax=0.3790;non_neuro_AF_popmax=0.3814;non_cancer_AF_popmax=.;controls_AF_popmax=0.3734;Kaviar_AF=0.333443;Kaviar_AC=51551;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.365019::-0.255045;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|0 0|1 0|0 1|1 1|0 1|0 0|1 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|1 +2 105979752 rs137869171 G A 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=21494;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon4:c.C336T:p.N112N,FHL2:NM_001318894:exon5:c.C678T:p.N226N,FHL2:NM_001318896:exon5:c.C678T:p.N226N,FHL2:NM_001318898:exon5:c.C336T:p.N112N,FHL2:NM_001450:exon5:c.C678T:p.N226N,FHL2:NM_201557:exon5:c.C678T:p.N226N,FHL2:NM_001039492:exon6:c.C678T:p.N226N,FHL2:NM_001318895:exon6:c.C678T:p.N226N,FHL2:NM_001318899:exon7:c.C354T:p.N118N,FHL2:NM_201555:exon7:c.C678T:p.N226N;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137869171;CLNALLELEID=57488;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=6.148e-05;AF=0.0075;AF_popmax=0.0142;AF_male=0.0073;AF_female=0.0078;AF_raw=0.0075;AF_afr=0.0036;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0095;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0062289;Kaviar_AC=963;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.803674;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 105979986 rs142473444 C T 100 PASS AC=3;AF=0.00219649;AN=214;NS=2504;DP=20452;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142473444;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0071;AF_male=0.0032;AF_female=0.0033;AF_raw=0.0033;AF_afr=0.0005;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0023;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0050715;Kaviar_AC=132;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179391754 rs377439315 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19822;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.T80766C:p.H26922H,TTN:NM_133432:exon192:c.T81141C:p.H27047H,TTN:NM_133437:exon192:c.T81342C:p.H27114H,TTN:NM_133378:exon312:c.T100257C:p.H33419H,TTN:NM_001256850:exon313:c.T103038C:p.H34346H,TTN:NM_001267550:exon363:c.T107961C:p.H35987H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377439315;CLNALLELEID=172800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=9.878e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.150907;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179392015 rs55832587 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=22026;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.A80505G:p.E26835E,TTN:NM_133432:exon192:c.A80880G:p.E26960E,TTN:NM_133437:exon192:c.A81081G:p.E27027E,TTN:NM_133378:exon312:c.A99996G:p.E33332E,TTN:NM_001256850:exon313:c.A102777G:p.E34259E,TTN:NM_001267550:exon363:c.A107700G:p.E35900E;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55832587;CLNALLELEID=56887;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0245;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.415750;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179392080 rs16866373 A T 100 PASS AC=26;AF=0.209065;AN=214;NS=2504;DP=22400;EAS_AF=0.4504;AMR_AF=0.1484;AFR_AF=0.0673;EUR_AF=0.1392;SAS_AF=0.2669;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.209065;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866373;CLNALLELEID=250408;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1461;ExAC_nontcga_ALL=0.1797;ExAC_nontcga_AFR=0.0687;ExAC_nontcga_AMR=0.1530;ExAC_nontcga_EAS=0.4368;ExAC_nontcga_FIN=0.1485;ExAC_nontcga_NFE=0.1492;ExAC_nontcga_OTH=0.1769;ExAC_nontcga_SAS=0.2662;AF=0.1451;AF_popmax=0.44;AF_male=0.1459;AF_female=0.1441;AF_raw=0.1453;AF_afr=0.0740;AF_sas=.;AF_amr=0.1604;AF_eas=0.44;AF_nfe=0.1529;AF_fin=0.1488;AF_asj=0.1076;AF_oth=0.1713;non_topmed_AF_popmax=0.4392;non_neuro_AF_popmax=0.44;non_cancer_AF_popmax=.;controls_AF_popmax=0.4275;Kaviar_AF=0.163336;Kaviar_AC=25252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179392277 rs72629793 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=23166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0102;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72629793;CLNALLELEID=56884;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.821;MutationTaster_converted_rankscore=0.358;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=D;VEST3_score=0.419;VEST3_rankscore=0.828;MetaSVM_score=-0.889;MetaSVM_rankscore=0.490;MetaSVM_pred=T;MetaLR_score=0.141;MetaLR_rankscore=0.461;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.541;CADD_raw_rankscore=0.247;CADD_phred=13.53;DANN_score=0.835;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.274;Eigen-PC-raw=-0.063;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.62;GERP++_RS_rankscore=0.568;phyloP100way_vertebrate=5.583;phyloP100way_vertebrate_rankscore=0.670;phyloP20way_mammalian=0.162;phyloP20way_mammalian_rankscore=0.245;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.371;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0093;AF=0.0004;AF_popmax=0.0006;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0019987;Kaviar_AC=309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.851703;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393111 rs16866378 A G 100 PASS AC=15;AF=0.0920527;AN=214;NS=2504;DP=19459;EAS_AF=0.1736;AMR_AF=0.0403;AFR_AF=0.1354;EUR_AF=0.0318;SAS_AF=0.0481;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon189:c.T80072C:p.V26691A,TTN:NM_133432:exon190:c.T80447C:p.V26816A,TTN:NM_133437:exon190:c.T80648C:p.V26883A,TTN:NM_133378:exon310:c.T99563C:p.V33188A,TTN:NM_001256850:exon311:c.T102344C:p.V34115A,TTN:NM_001267550:exon361:c.T107267C:p.V35756A;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866378;CLNALLELEID=56882;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.127;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.08;MutationAssessor_score_rankscore=0.273;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_converted_rankscore=0.424;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.028;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.135;REVEL_rankscore=0.371;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.471;CADD_raw_rankscore=0.139;CADD_phred=7.207;DANN_score=0.642;DANN_rankscore=0.072;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_rankscore=0.274;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.656;Eigen-PC-raw=-0.677;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.423;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.24;GERP++_RS_rankscore=0.203;phyloP100way_vertebrate=4.262;phyloP100way_vertebrate_rankscore=0.584;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.249;phastCons100way_vertebrate_rankscore=0.246;phastCons20way_mammalian=0.904;phastCons20way_mammalian_rankscore=0.383;SiPhy_29way_logOdds=9.842;SiPhy_29way_logOdds_rankscore=0.400;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0456;ExAC_nontcga_AFR=0.1276;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.1673;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0217;ExAC_nontcga_OTH=0.0422;ExAC_nontcga_SAS=0.0519;AF=0.0559;AF_popmax=0.1592;AF_male=0.0604;AF_female=0.0503;AF_raw=0.0561;AF_afr=0.1319;AF_sas=.;AF_amr=0.0425;AF_eas=0.1592;AF_nfe=0.0178;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0303;non_topmed_AF_popmax=0.1592;non_neuro_AF_popmax=0.1592;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0430007;Kaviar_AC=6648;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.461935;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179393691 rs55842557 G A 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=22209;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.C79592T:p.T26531I,TTN:NM_133432:exon189:c.C79967T:p.T26656I,TTN:NM_133437:exon189:c.C80168T:p.T26723I,TTN:NM_133378:exon309:c.C99083T:p.T33028I,TTN:NM_001256850:exon310:c.C101864T:p.T33955I,TTN:NM_001267550:exon360:c.C106787T:p.T35596I;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55842557;CLNALLELEID=56876;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_converted_rankscore=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.297;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.029;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.249;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_converted_rankscore=0.625;PROVEAN_pred=D;VEST3_score=0.156;VEST3_rankscore=0.189;MetaSVM_score=-0.944;MetaSVM_rankscore=0.419;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.329;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.082;REVEL_rankscore=0.244;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.210;CADD_raw_rankscore=0.445;CADD_phred=22.7;DANN_score=0.784;DANN_rankscore=0.118;fathmm-MKL_coding_score=0.951;fathmm-MKL_coding_rankscore=0.631;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.015;Eigen-PC-raw=0.210;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.493;integrated_fitCons_score_rankscore=0.174;integrated_confidence_value=0;GERP++_RS=4.74;GERP++_RS_rankscore=0.596;phyloP100way_vertebrate=3.043;phyloP100way_vertebrate_rankscore=0.493;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.248;SiPhy_29way_logOdds_rankscore=0.593;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0764;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0233;ExAC_nontcga_SAS=0.0004;AF=0.0165;AF_popmax=0.0157;AF_male=0.0133;AF_female=0.0205;AF_raw=0.0165;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0157;AF_fin=0.0671;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0190;non_neuro_AF_popmax=0.0159;non_cancer_AF_popmax=.;controls_AF_popmax=0.0288;Kaviar_AF=0.0086674;Kaviar_AC=1340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.647082;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393840 rs56324602 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18690;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.G79443A:p.R26481R,TTN:NM_133432:exon189:c.G79818A:p.R26606R,TTN:NM_133437:exon189:c.G80019A:p.R26673R,TTN:NM_133378:exon309:c.G98934A:p.R32978R,TTN:NM_001256850:exon310:c.G101715A:p.R33905R,TTN:NM_001267550:exon360:c.G106638A:p.R35546R;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56324602;CLNALLELEID=56875;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0251;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.549799;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179393859 rs55880440 A G 100 PASS AC=6;AF=0.00459265;AN=214;NS=2504;DP=18348;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.T79424C:p.I26475T,TTN:NM_133432:exon189:c.T79799C:p.I26600T,TTN:NM_133437:exon189:c.T80000C:p.I26667T,TTN:NM_133378:exon309:c.T98915C:p.I32972T,TTN:NM_001256850:exon310:c.T101696C:p.I33899T,TTN:NM_001267550:exon360:c.T106619C:p.I35540T;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55880440;CLNALLELEID=56874;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.093;SIFT_converted_rankscore=0.326;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_converted_rankscore=0.241;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.556;PROVEAN_pred=D;VEST3_score=0.199;VEST3_rankscore=0.559;MetaSVM_score=-0.981;MetaSVM_rankscore=0.347;MetaSVM_pred=T;MetaLR_score=0.081;MetaLR_rankscore=0.319;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.318;REVEL_rankscore=0.644;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.010;CADD_raw_rankscore=0.302;CADD_phred=16.28;DANN_score=0.765;DANN_rankscore=0.111;fathmm-MKL_coding_score=0.663;fathmm-MKL_coding_rankscore=0.328;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.512;Eigen-PC-raw=-0.351;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.493;integrated_fitCons_score_rankscore=0.174;integrated_confidence_value=0;GERP++_RS=1.63;GERP++_RS_rankscore=0.228;phyloP100way_vertebrate=1.885;phyloP100way_vertebrate_rankscore=0.391;phyloP20way_mammalian=0.238;phyloP20way_mammalian_rankscore=0.266;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.346;SiPhy_29way_logOdds_rankscore=0.204;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0178;ExAC_nontcga_ALL=0.014;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0206;ExAC_nontcga_OTH=0.0244;ExAC_nontcga_SAS=0.0073;AF=0.0130;AF_popmax=0.0176;AF_male=0.0116;AF_female=0.0146;AF_raw=0.0130;AF_afr=0.0040;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0211;AF_asj=0.0345;AF_oth=0.0111;non_topmed_AF_popmax=0.0180;non_neuro_AF_popmax=0.0180;non_cancer_AF_popmax=.;controls_AF_popmax=0.0213;Kaviar_AF=0.0124449;Kaviar_AC=1924;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.596643;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395067 rs56207956 C G 100 PASS AC=15;AF=0.0509185;AN=214;NS=2504;DP=16703;EAS_AF=0;AMR_AF=0.0692;AFR_AF=0.0726;EUR_AF=0.0875;SAS_AF=0.0235;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G79080C:p.G26360G,TTN:NM_133432:exon187:c.G79455C:p.G26485G,TTN:NM_133437:exon187:c.G79656C:p.G26552G,TTN:NM_133378:exon307:c.G98571C:p.G32857G,TTN:NM_001256850:exon308:c.G101352C:p.G33784G,TTN:NM_001267550:exon358:c.G106275C:p.G35425G;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56207956;CLNALLELEID=56868;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0874;ExAC_nontcga_ALL=0.0640;ExAC_nontcga_AFR=0.0716;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0750;ExAC_nontcga_NFE=0.0866;ExAC_nontcga_OTH=0.0594;ExAC_nontcga_SAS=0.0254;AF=0.0763;AF_popmax=0.0873;AF_male=0.0769;AF_female=0.0755;AF_raw=0.0763;AF_afr=0.0743;AF_sas=.;AF_amr=0.0578;AF_eas=0;AF_nfe=0.0873;AF_fin=0.0748;AF_asj=0.0517;AF_oth=0.0718;non_topmed_AF_popmax=0.0888;non_neuro_AF_popmax=0.0872;non_cancer_AF_popmax=.;controls_AF_popmax=0.0891;Kaviar_AF=0.0668685;Kaviar_AC=10338;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.345107;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +2 179395554 rs66961115 G A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=17466;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78593T:p.A26198V,TTN:NM_133432:exon187:c.C78968T:p.A26323V,TTN:NM_133437:exon187:c.C79169T:p.A26390V,TTN:NM_133378:exon307:c.C98084T:p.A32695V,TTN:NM_001256850:exon308:c.C100865T:p.A33622V,TTN:NM_001267550:exon358:c.C105788T:p.A35263V;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66961115;CLNALLELEID=56866;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.259;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.931;MutationTaster_converted_rankscore=0.270;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_converted_rankscore=0.366;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.324;MetaSVM_score=-0.944;MetaSVM_rankscore=0.419;MetaSVM_pred=T;MetaLR_score=0.100;MetaLR_rankscore=0.373;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.704;CADD_raw_rankscore=0.386;CADD_phred=20.8;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.782;fathmm-MKL_coding_rankscore=0.382;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.281;Eigen-PC-raw=-0.121;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=1.519;phyloP100way_vertebrate_rankscore=0.353;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.608;phastCons100way_vertebrate_rankscore=0.276;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=13.425;SiPhy_29way_logOdds_rankscore=0.603;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0262;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0014;AF=0.0119;AF_popmax=0.0154;AF_male=0.0106;AF_female=0.0135;AF_raw=0.0119;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0256;AF_asj=0.0103;AF_oth=0.0120;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.010679;Kaviar_AC=1651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END;VINYL_score=3.5 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395555 rs67254537 C A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=17482;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78592T:p.A26198S,TTN:NM_133432:exon187:c.G78967T:p.A26323S,TTN:NM_133437:exon187:c.G79168T:p.A26390S,TTN:NM_133378:exon307:c.G98083T:p.A32695S,TTN:NM_001256850:exon308:c.G100864T:p.A33622S,TTN:NM_001267550:exon358:c.G105787T:p.A35263S;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67254537;CLNALLELEID=56865;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.204;SIFT_converted_rankscore=0.200;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.988;MutationTaster_converted_rankscore=0.244;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.272;MetaSVM_score=-0.981;MetaSVM_rankscore=0.348;MetaSVM_pred=T;MetaLR_score=0.091;MetaLR_rankscore=0.348;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.275;CADD_raw_rankscore=0.335;CADD_phred=18.00;DANN_score=0.958;DANN_rankscore=0.272;fathmm-MKL_coding_score=0.925;fathmm-MKL_coding_rankscore=0.556;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.410;Eigen-PC-raw=-0.264;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.67;GERP++_RS_rankscore=0.230;phyloP100way_vertebrate=1.447;phyloP100way_vertebrate_rankscore=0.345;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.664;phastCons100way_vertebrate_rankscore=0.281;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=8.588;SiPhy_29way_logOdds_rankscore=0.326;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0262;ExAC_nontcga_NFE=0.0173;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0011;AF=0.0119;AF_popmax=0.0154;AF_male=0.0106;AF_female=0.0135;AF_raw=0.0119;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0256;AF_asj=0.0103;AF_oth=0.0120;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0151;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.0106467;Kaviar_AC=1646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END;VINYL_score=3.5 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395560 rs16866380 G A 100 PASS AC=15;AF=0.0792732;AN=214;NS=2504;DP=17438;EAS_AF=0.1716;AMR_AF=0.0403;AFR_AF=0.0885;EUR_AF=0.0318;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78587T:p.P26196L,TTN:NM_133432:exon187:c.C78962T:p.P26321L,TTN:NM_133437:exon187:c.C79163T:p.P26388L,TTN:NM_133378:exon307:c.C98078T:p.P32693L,TTN:NM_001256850:exon308:c.C100859T:p.P33620L,TTN:NM_001267550:exon358:c.C105782T:p.P35261L;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866380;CLNALLELEID=56864;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.382;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-0.38;FATHMM_converted_rankscore=0.690;FATHMM_pred=T;PROVEAN_score=-4.67;PROVEAN_converted_rankscore=0.795;PROVEAN_pred=D;VEST3_score=0.154;VEST3_rankscore=0.345;MetaSVM_score=-1.036;MetaSVM_rankscore=0.186;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.193;REVEL_rankscore=0.478;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.557;CADD_raw_rankscore=0.485;CADD_phred=23.1;DANN_score=0.900;DANN_rankscore=0.187;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.670;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.032;Eigen-PC-raw=0.157;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=5.593;phyloP100way_vertebrate_rankscore=0.670;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.911;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=18.287;SiPhy_29way_logOdds_rankscore=0.900;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0412;ExAC_nontcga_AFR=0.0761;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0.1669;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0517;AF=0.0403;AF_popmax=0.1594;AF_male=0.0432;AF_female=0.0367;AF_raw=0.0405;AF_afr=0.0768;AF_sas=.;AF_amr=0.0402;AF_eas=0.1594;AF_nfe=0.0177;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0248;non_topmed_AF_popmax=0.1594;non_neuro_AF_popmax=0.1594;non_cancer_AF_popmax=.;controls_AF_popmax=0.1616;Kaviar_AF=0.038376;Kaviar_AC=5933;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.631762;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179395573 rs56324595 C T 100 PASS AC=7;AF=0.00658946;AN=214;NS=2504;DP=17611;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78574A:p.E26192K,TTN:NM_133432:exon187:c.G78949A:p.E26317K,TTN:NM_133437:exon187:c.G79150A:p.E26384K,TTN:NM_133378:exon307:c.G98065A:p.E32689K,TTN:NM_001256850:exon308:c.G100846A:p.E33616K,TTN:NM_001267550:exon358:c.G105769A:p.E35257K;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56324595;CLNALLELEID=56863;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.749;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-2.6;PROVEAN_converted_rankscore=0.559;PROVEAN_pred=D;VEST3_score=0.188;VEST3_rankscore=0.341;MetaSVM_score=-0.534;MetaSVM_rankscore=0.674;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_rankscore=0.472;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.312;REVEL_rankscore=0.638;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.028;CADD_raw_rankscore=0.541;CADD_phred=23.6;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.770;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.605;Eigen-PC-raw=0.613;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=18.287;SiPhy_29way_logOdds_rankscore=0.900;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0175;ExAC_nontcga_ALL=0.0140;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0210;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0034;AF=0.0139;AF_popmax=0.0186;AF_male=0.0131;AF_female=0.0148;AF_raw=0.0139;AF_afr=0.0035;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0186;AF_fin=0.0262;AF_asj=0.0138;AF_oth=0.0148;non_topmed_AF_popmax=0.0184;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0137062;Kaviar_AC=2119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.634310;ALLELE_END;VINYL_score=5 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395760 rs3829749 G A 100 PASS AC=15;AF=0.091254;AN=214;NS=2504;DP=20743;EAS_AF=0.1726;AMR_AF=0.0403;AFR_AF=0.1331;EUR_AF=0.0318;SAS_AF=0.0481;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78387T:p.S26129S,TTN:NM_133432:exon187:c.C78762T:p.S26254S,TTN:NM_133437:exon187:c.C78963T:p.S26321S,TTN:NM_133378:exon307:c.C97878T:p.S32626S,TTN:NM_001256850:exon308:c.C100659T:p.S33553S,TTN:NM_001267550:exon358:c.C105582T:p.S35194S;1000g2015aug_all=0.091254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829749;CLNALLELEID=56858;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0453;ExAC_nontcga_AFR=0.1250;ExAC_nontcga_AMR=0.0310;ExAC_nontcga_EAS=0.1669;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0216;ExAC_nontcga_OTH=0.0420;ExAC_nontcga_SAS=0.0516;AF=0.0549;AF_popmax=0.1585;AF_male=0.0591;AF_female=0.0497;AF_raw=0.0550;AF_afr=0.1282;AF_sas=.;AF_amr=0.0425;AF_eas=0.1585;AF_nfe=0.0180;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0303;non_topmed_AF_popmax=0.1586;non_neuro_AF_popmax=0.1585;non_cancer_AF_popmax=.;controls_AF_popmax=0.1605;Kaviar_AF=0.0424445;Kaviar_AC=6562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.908030;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179395874 rs55806007 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=18782;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78273A:p.P26091P,TTN:NM_133432:exon187:c.G78648A:p.P26216P,TTN:NM_133437:exon187:c.G78849A:p.P26283P,TTN:NM_133378:exon307:c.G97764A:p.P32588P,TTN:NM_001256850:exon308:c.G100545A:p.P33515P,TTN:NM_001267550:exon358:c.G105468A:p.P35156P;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55806007;CLNALLELEID=56855;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0119;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0169;ExAC_nontcga_NFE=0.0111;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0063;AF=0.0084;AF_popmax=0.0101;AF_male=0.0083;AF_female=0.0086;AF_raw=0.0085;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0199;AF_asj=0.0276;AF_oth=0.0092;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0084346;Kaviar_AC=1304;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.856270;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179395958 rs3813250 T C 100 PASS AC=57;AF=0.508187;AN=214;NS=2504;DP=20546;EAS_AF=0.7123;AMR_AF=0.4049;AFR_AF=0.5681;EUR_AF=0.2535;SAS_AF=0.5521;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A78189G:p.A26063A,TTN:NM_133432:exon187:c.A78564G:p.A26188A,TTN:NM_133437:exon187:c.A78765G:p.A26255A,TTN:NM_133378:exon307:c.A97680G:p.A32560A,TTN:NM_001256850:exon308:c.A100461G:p.A33487A,TTN:NM_001267550:exon358:c.A105384G:p.A35128A;1000g2015aug_all=0.508187;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813250;CLNALLELEID=56853;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2231;ExAC_nontcga_ALL=0.3614;ExAC_nontcga_AFR=0.5471;ExAC_nontcga_AMR=0.4304;ExAC_nontcga_EAS=0.6936;ExAC_nontcga_FIN=0.2768;ExAC_nontcga_NFE=0.2328;ExAC_nontcga_OTH=0.3377;ExAC_nontcga_SAS=0.5205;AF=0.3498;AF_popmax=0.6896;AF_male=0.3563;AF_female=0.3415;AF_raw=0.3502;AF_afr=0.5394;AF_sas=.;AF_amr=0.4116;AF_eas=0.6896;AF_nfe=0.2291;AF_fin=0.2696;AF_asj=0.2345;AF_oth=0.3026;non_topmed_AF_popmax=0.6891;non_neuro_AF_popmax=0.6896;non_cancer_AF_popmax=.;controls_AF_popmax=0.6715;Kaviar_AF=0.333728;Kaviar_AC=51595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629513|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.616577;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179396162 rs56308529 C G 100 PASS AC=9;AF=0.0229633;AN=214;NS=2504;DP=22749;EAS_AF=0;AMR_AF=0.0793;AFR_AF=0;EUR_AF=0.0467;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77985C:p.E25995D,TTN:NM_133432:exon187:c.G78360C:p.E26120D,TTN:NM_133437:exon187:c.G78561C:p.E26187D,TTN:NM_133378:exon307:c.G97476C:p.E32492D,TTN:NM_001256850:exon308:c.G100257C:p.E33419D,TTN:NM_001267550:exon358:c.G105180C:p.E35060D;1000g2015aug_all=0.0229633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56308529;CLNALLELEID=56848;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.214;SIFT_converted_rankscore=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.540;MutationTaster_converted_rankscore=0.336;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=0.02;FATHMM_converted_rankscore=0.623;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.350;PROVEAN_pred=N;VEST3_score=0.129;VEST3_rankscore=0.235;MetaSVM_score=-0.945;MetaSVM_rankscore=0.419;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_rankscore=0.132;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.686;CADD_raw_rankscore=0.384;CADD_phred=20.7;DANN_score=0.732;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.746;fathmm-MKL_coding_rankscore=0.362;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.348;Eigen-PC-raw=-0.214;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=0.031;phyloP100way_vertebrate_rankscore=0.135;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.846;phastCons100way_vertebrate_rankscore=0.301;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=8.136;SiPhy_29way_logOdds_rankscore=0.300;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.0376;ExAC_nontcga_AFR=0.0073;ExAC_nontcga_AMR=0.0964;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0240;ExAC_nontcga_NFE=0.0411;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0249;AF=0.0327;AF_popmax=0.0863;AF_male=0.0320;AF_female=0.0336;AF_raw=0.0328;AF_afr=0.0091;AF_sas=.;AF_amr=0.0863;AF_eas=0;AF_nfe=0.0478;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0432;non_topmed_AF_popmax=0.0879;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0384989;Kaviar_AC=5952;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.243897;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396354 rs3829748 G A 100 PASS AC=26;AF=0.231829;AN=214;NS=2504;DP=20197;EAS_AF=0.4504;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1392;SAS_AF=0.2679;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C77793T:p.V25931V,TTN:NM_133432:exon187:c.C78168T:p.V26056V,TTN:NM_133437:exon187:c.C78369T:p.V26123V,TTN:NM_133378:exon307:c.C97284T:p.V32428V,TTN:NM_001256850:exon308:c.C100065T:p.V33355V,TTN:NM_001267550:exon358:c.C104988T:p.V34996V;1000g2015aug_all=0.231829;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829748;CLNALLELEID=56845;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1451;ExAC_nontcga_ALL=0.1856;ExAC_nontcga_AFR=0.1427;ExAC_nontcga_AMR=0.1535;ExAC_nontcga_EAS=0.4313;ExAC_nontcga_FIN=0.1478;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1739;ExAC_nontcga_SAS=0.2552;AF=0.1646;AF_popmax=0.4407;AF_male=0.1650;AF_female=0.1640;AF_raw=0.1646;AF_afr=0.1423;AF_sas=.;AF_amr=0.1639;AF_eas=0.4407;AF_nfe=0.1528;AF_fin=0.1486;AF_asj=0.1207;AF_oth=0.1777;non_topmed_AF_popmax=0.4399;non_neuro_AF_popmax=0.4407;non_cancer_AF_popmax=.;controls_AF_popmax=0.4295;Kaviar_AF=0.177579;Kaviar_AC=27454;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.070010;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179396573 rs56375087 T G 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21340;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56375087;CLNALLELEID=56841;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0776;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0236;ExAC_nontcga_SAS=0.0004;AF=0.0164;AF_popmax=0.0156;AF_male=0.0133;AF_female=0.0204;AF_raw=0.0165;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0156;AF_fin=0.0671;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0190;non_neuro_AF_popmax=0.0159;non_cancer_AF_popmax=.;controls_AF_popmax=0.0288;Kaviar_AF=0.0086998;Kaviar_AC=1345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.012148;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396766 rs68080670 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19317;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77381A:p.R25794Q,TTN:NM_133432:exon187:c.G77756A:p.R25919Q,TTN:NM_133437:exon187:c.G77957A:p.R25986Q,TTN:NM_133378:exon307:c.G96872A:p.R32291Q,TTN:NM_001256850:exon308:c.G99653A:p.R33218Q,TTN:NM_001267550:exon358:c.G104576A:p.R34859Q;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68080670;CLNALLELEID=56839;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.47;Polyphen2_HVAR_rankscore=0.450;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.448;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.665;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.508;PROVEAN_pred=N;VEST3_score=0.255;VEST3_rankscore=0.311;MetaSVM_score=-0.699;MetaSVM_rankscore=0.605;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_rankscore=0.481;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.918;CADD_raw_rankscore=0.528;CADD_phred=23.5;DANN_score=0.862;DANN_rankscore=0.159;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.371;Eigen-PC-raw=0.432;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.490;integrated_fitCons_score_rankscore=0.173;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=4.534;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.463;phastCons20way_mammalian_rankscore=0.265;SiPhy_29way_logOdds=13.76;SiPhy_29way_logOdds_rankscore=0.623;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0145;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0441;ExAC_nontcga_NFE=0.0169;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0026;AF=0.0171;AF_popmax=0.0222;AF_male=0.0158;AF_female=0.0189;AF_raw=0.0172;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0222;AF_fin=0.0426;AF_asj=0.0034;AF_oth=0.0212;non_topmed_AF_popmax=0.0246;non_neuro_AF_popmax=0.0230;non_cancer_AF_popmax=.;controls_AF_popmax=0.0336;Kaviar_AF=0.012212;Kaviar_AC=1888;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.023696;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179396782 rs55866005 C G 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=19950;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77365C:p.V25789L,TTN:NM_133432:exon187:c.G77740C:p.V25914L,TTN:NM_133437:exon187:c.G77941C:p.V25981L,TTN:NM_133378:exon307:c.G96856C:p.V32286L,TTN:NM_001256850:exon308:c.G99637C:p.V33213L,TTN:NM_001267550:exon358:c.G104560C:p.V34854L;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55866005;CLNALLELEID=56838;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.947;MutationTaster_converted_rankscore=0.376;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.85;FATHMM_converted_rankscore=0.744;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.226;VEST3_rankscore=0.334;MetaSVM_score=-0.593;MetaSVM_rankscore=0.651;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_rankscore=0.542;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.643;M-CAP_pred=D;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.504;CADD_raw_rankscore=0.362;CADD_phred=19.49;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_rankscore=0.564;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.134;Eigen-PC-raw=0.032;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.490;integrated_fitCons_score_rankscore=0.173;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=4.842;phyloP100way_vertebrate_rankscore=0.623;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=14.127;SiPhy_29way_logOdds_rankscore=0.646;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0019;AF=0.0048;AF_popmax=0.0073;AF_male=0.0049;AF_female=0.0047;AF_raw=0.0048;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0051422;Kaviar_AC=795;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.388015;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179397561 rs3829747 C T 100 PASS AC=26;AF=0.208666;AN=214;NS=2504;DP=22656;EAS_AF=0.4484;AMR_AF=0.1484;AFR_AF=0.0666;EUR_AF=0.1392;SAS_AF=0.2679;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G76586A:p.R25529H,TTN:NM_133432:exon187:c.G76961A:p.R25654H,TTN:NM_133437:exon187:c.G77162A:p.R25721H,TTN:NM_133378:exon307:c.G96077A:p.R32026H,TTN:NM_001256850:exon308:c.G98858A:p.R32953H,TTN:NM_001267550:exon358:c.G103781A:p.R34594H;1000g2015aug_all=0.208666;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829747;CLNALLELEID=56827;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-3.63;PROVEAN_converted_rankscore=0.716;PROVEAN_pred=D;VEST3_score=0.22;VEST3_rankscore=0.357;MetaSVM_score=-0.963;MetaSVM_rankscore=0.387;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.420;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.497;CADD_raw_rankscore=0.602;CADD_phred=24.3;DANN_score=0.949;DANN_rankscore=0.252;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.673;Eigen-PC-raw=0.730;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.421;integrated_fitCons_score_rankscore=0.056;integrated_confidence_value=0;GERP++_RS=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.674;SiPhy_29way_logOdds_rankscore=0.959;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1784;ExAC_nontcga_AFR=0.0674;ExAC_nontcga_AMR=0.1496;ExAC_nontcga_EAS=0.4311;ExAC_nontcga_FIN=0.1476;ExAC_nontcga_NFE=0.1459;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2552;AF=0.1446;AF_popmax=0.4377;AF_male=0.1450;AF_female=0.1440;AF_raw=0.1446;AF_afr=0.0732;AF_sas=.;AF_amr=0.1596;AF_eas=0.4377;AF_nfe=0.1525;AF_fin=0.1493;AF_asj=0.1069;AF_oth=0.1682;non_topmed_AF_popmax=0.4368;non_neuro_AF_popmax=0.4377;non_cancer_AF_popmax=.;controls_AF_popmax=0.4267;Kaviar_AF=0.170761;Kaviar_AC=26400;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.925808;ALLELE_END;VINYL_score=4 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179398195 rs148525155 C G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21916;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75952C:p.E25318Q,TTN:NM_133432:exon187:c.G76327C:p.E25443Q,TTN:NM_133437:exon187:c.G76528C:p.E25510Q,TTN:NM_133378:exon307:c.G95443C:p.E31815Q,TTN:NM_001256850:exon308:c.G98224C:p.E32742Q,TTN:NM_001267550:exon358:c.G103147C:p.E34383Q;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148525155;CLNALLELEID=136136;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_converted_rankscore=0.421;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=-2.02;PROVEAN_converted_rankscore=0.481;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.403;MetaSVM_score=-0.325;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.312;MetaLR_rankscore=0.682;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.312;REVEL_rankscore=0.638;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.784;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.734;Eigen-PC-raw=0.771;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.503;SiPhy_29way_logOdds_rankscore=0.951;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0251;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0073;AF=0.0039;AF_popmax=0.0021;AF_male=0.0032;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0028784;Kaviar_AC=445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.355946;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398509 rs3731752 C A 100 PASS AC=15;AF=0.0780751;AN=214;NS=2504;DP=21817;EAS_AF=0.1716;AMR_AF=0.0403;AFR_AF=0.0847;EUR_AF=0.0318;SAS_AF=0.047;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75638T:p.G25213V,TTN:NM_133432:exon187:c.G76013T:p.G25338V,TTN:NM_133437:exon187:c.G76214T:p.G25405V,TTN:NM_133378:exon307:c.G95129T:p.G31710V,TTN:NM_001256850:exon308:c.G97910T:p.G32637V,TTN:NM_001267550:exon358:c.G102833T:p.G34278V;1000g2015aug_all=0.0780751;GWAS=rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743;ORegAnno_REGULATORY_P=rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743;avsnp150=rs3731752;CLNALLELEID=56819;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.045;SIFT_converted_rankscore=0.408;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.285;MutationAssessor_score_rankscore=0.037;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-6.12;PROVEAN_converted_rankscore=0.900;PROVEAN_pred=D;VEST3_score=0.473;VEST3_rankscore=0.655;MetaSVM_score=-0.868;MetaSVM_rankscore=0.507;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.480;REVEL_rankscore=0.774;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.098;CADD_raw_rankscore=0.432;CADD_phred=22.5;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.844;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.618;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.882;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.852;SiPhy_29way_logOdds_rankscore=0.628;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0403;ExAC_nontcga_AFR=0.0722;ExAC_nontcga_AMR=0.0291;ExAC_nontcga_EAS=0.1661;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0214;ExAC_nontcga_OTH=0.0391;ExAC_nontcga_SAS=0.0491;AF=0.0391;AF_popmax=0.1587;AF_male=0.0419;AF_female=0.0356;AF_raw=0.0392;AF_afr=0.0730;AF_sas=.;AF_amr=0.0379;AF_eas=0.1587;AF_nfe=0.0176;AF_fin=0.0009;AF_asj=0.0448;AF_oth=0.0239;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1587;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0379491;Kaviar_AC=5867;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.951876;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179398591 rs56173891 T C 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=20895;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A75556G:p.M25186V,TTN:NM_133432:exon187:c.A75931G:p.M25311V,TTN:NM_133437:exon187:c.A76132G:p.M25378V,TTN:NM_133378:exon307:c.A95047G:p.M31683V,TTN:NM_001256850:exon308:c.A97828G:p.M32610V,TTN:NM_001267550:exon358:c.A102751G:p.M34251V;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173891;CLNALLELEID=173031;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.176;SIFT_converted_rankscore=0.267;SIFT_pred=T;Polyphen2_HDIV_score=0.299;Polyphen2_HDIV_rankscore=0.308;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.241;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.498;PROVEAN_pred=N;VEST3_score=0.195;VEST3_rankscore=0.239;MetaSVM_score=-1.010;MetaSVM_rankscore=0.268;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.359;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.406;M-CAP_pred=T;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.513;CADD_raw_rankscore=0.143;CADD_phred=7.532;DANN_score=0.772;DANN_rankscore=0.114;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_rankscore=0.522;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.452;Eigen-PC-raw=-0.277;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=4.44;GERP++_RS_rankscore=0.530;phyloP100way_vertebrate=1.900;phyloP100way_vertebrate_rankscore=0.392;phyloP20way_mammalian=-0.249;phyloP20way_mammalian_rankscore=0.090;phastCons100way_vertebrate=0.979;phastCons100way_vertebrate_rankscore=0.349;phastCons20way_mammalian=0.932;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=10.793;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0007633;Kaviar_AC=118;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.843738;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398747 rs56347248 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23197;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56347248;CLNALLELEID=56816;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.52;SIFT_converted_rankscore=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.393;MutationTaster_pred=D;MutationAssessor_score=-0.115;MutationAssessor_score_rankscore=0.046;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.178;PROVEAN_pred=N;VEST3_score=0.163;VEST3_rankscore=0.361;MetaSVM_score=-0.792;MetaSVM_rankscore=0.556;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_rankscore=0.450;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.126;REVEL_rankscore=0.352;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.457;CADD_raw_rankscore=0.238;CADD_phred=13.09;DANN_score=0.859;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.080;Eigen-PC-raw=0.257;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.59;GERP++_RS_rankscore=0.846;phyloP100way_vertebrate=5.019;phyloP100way_vertebrate_rankscore=0.636;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.421;SiPhy_29way_logOdds_rankscore=0.490;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.041026;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179398823 rs2857265 G A 100 PASS AC=26;AF=0.232029;AN=214;NS=2504;DP=23498;EAS_AF=0.4514;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1392;SAS_AF=0.2679;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75324T:p.G25108G,TTN:NM_133432:exon187:c.C75699T:p.G25233G,TTN:NM_133437:exon187:c.C75900T:p.G25300G,TTN:NM_133378:exon307:c.C94815T:p.G31605G,TTN:NM_001256850:exon308:c.C97596T:p.G32532G,TTN:NM_001267550:exon358:c.C102519T:p.G34173G;1000g2015aug_all=0.232029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2857265;CLNALLELEID=56814;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1465;ExAC_nontcga_ALL=0.1855;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.1528;ExAC_nontcga_EAS=0.4302;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1754;ExAC_nontcga_SAS=0.2550;AF=0.1642;AF_popmax=0.4385;AF_male=0.1645;AF_female=0.1639;AF_raw=0.1646;AF_afr=0.1414;AF_sas=.;AF_amr=0.1631;AF_eas=0.4385;AF_nfe=0.1531;AF_fin=0.1492;AF_asj=0.1207;AF_oth=0.1765;non_topmed_AF_popmax=0.4376;non_neuro_AF_popmax=0.4385;non_cancer_AF_popmax=.;controls_AF_popmax=0.4259;Kaviar_AF=0.17743;Kaviar_AC=27431;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.278344;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179398989 rs551905996 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21379;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75158A:p.R25053Q,TTN:NM_133432:exon187:c.G75533A:p.R25178Q,TTN:NM_133437:exon187:c.G75734A:p.R25245Q,TTN:NM_133378:exon307:c.G94649A:p.R31550Q,TTN:NM_001256850:exon308:c.G97430A:p.R32477Q,TTN:NM_001267550:exon358:c.G102353A:p.R34118Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551905996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.468;Polyphen2_HVAR_rankscore=0.520;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.416;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-2.83;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.228;VEST3_rankscore=0.437;MetaSVM_score=-0.587;MetaSVM_rankscore=0.654;MetaSVM_pred=T;MetaLR_score=0.215;MetaLR_rankscore=0.577;MetaLR_pred=T;M-CAP_score=0.041;M-CAP_rankscore=0.596;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.802;CADD_raw_rankscore=0.514;CADD_phred=23.4;DANN_score=0.882;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.518;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.379;Eigen-PC-raw=0.468;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.48;GERP++_RS_rankscore=0.806;phyloP100way_vertebrate=3.146;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.495;SiPhy_29way_logOdds_rankscore=0.908;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.842e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0006;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.382088;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399071 rs140319117 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21644;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75076T:p.R25026W,TTN:NM_133432:exon187:c.C75451T:p.R25151W,TTN:NM_133437:exon187:c.C75652T:p.R25218W,TTN:NM_133378:exon307:c.C94567T:p.R31523W,TTN:NM_001256850:exon308:c.C97348T:p.R32450W,TTN:NM_001267550:exon358:c.C102271T:p.R34091W;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140319117;CLNALLELEID=172615;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_rankscore=0.666;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.456;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_converted_rankscore=0.437;FATHMM_pred=T;PROVEAN_score=-5.41;PROVEAN_converted_rankscore=0.878;PROVEAN_pred=D;VEST3_score=0.491;VEST3_rankscore=0.772;MetaSVM_score=-0.896;MetaSVM_rankscore=0.484;MetaSVM_pred=T;MetaLR_score=0.134;MetaLR_rankscore=0.447;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.501;M-CAP_pred=D;REVEL_score=0.328;REVEL_rankscore=0.654;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.933;CADD_raw_rankscore=0.530;CADD_phred=23.5;DANN_score=0.960;DANN_rankscore=0.279;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.600;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.571;Eigen-PC-raw=0.626;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=5.718;phyloP100way_vertebrate_rankscore=0.679;phyloP20way_mammalian=0.108;phyloP20way_mammalian_rankscore=0.203;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.197;SiPhy_29way_logOdds_rankscore=0.590;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0005;AF_raw=0.0007;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.817307;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399451 rs55669553 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20378;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55669553;CLNALLELEID=56807;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_rankscore=0.244;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.965;MutationAssessor_score_rankscore=0.855;MutationAssessor_pred=M;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-3.49;PROVEAN_converted_rankscore=0.697;PROVEAN_pred=D;VEST3_score=0.378;VEST3_rankscore=0.458;MetaSVM_score=-0.916;MetaSVM_rankscore=0.461;MetaSVM_pred=T;MetaLR_score=0.142;MetaLR_rankscore=0.463;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.089;REVEL_rankscore=0.263;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.009;CADD_raw_rankscore=0.539;CADD_phred=23.6;DANN_score=0.927;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.114;Eigen-PC-raw=0.267;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=5.062;phyloP100way_vertebrate_rankscore=0.639;phyloP20way_mammalian=0.068;phyloP20way_mammalian_rankscore=0.175;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.569;SiPhy_29way_logOdds_rankscore=0.760;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0236;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037516;Kaviar_AC=580;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.977310;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399537 rs76106451 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22130;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.T74610G:p.I24870M,TTN:NM_133432:exon187:c.T74985G:p.I24995M,TTN:NM_133437:exon187:c.T75186G:p.I25062M,TTN:NM_133378:exon307:c.T94101G:p.I31367M,TTN:NM_001256850:exon308:c.T96882G:p.I32294M,TTN:NM_001267550:exon358:c.T101805G:p.I33935M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76106451;CLNALLELEID=491649;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.948;Polyphen2_HVAR_rankscore=0.668;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_converted_rankscore=0.428;MutationTaster_pred=D;MutationAssessor_score=3.645;MutationAssessor_score_rankscore=0.943;MutationAssessor_pred=H;FATHMM_score=-0.78;FATHMM_converted_rankscore=0.736;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_converted_rankscore=0.495;PROVEAN_pred=N;VEST3_score=0.27;VEST3_rankscore=0.488;MetaSVM_score=0.100;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.554;MetaLR_rankscore=0.837;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.499;M-CAP_pred=D;REVEL_score=0.559;REVEL_rankscore=0.821;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.640;CADD_raw_rankscore=0.155;CADD_phred=8.431;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.282;Eigen-PC-raw=0.186;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.306;integrated_fitCons_score=0.372;integrated_fitCons_score_rankscore=0.050;integrated_confidence_value=0;GERP++_RS=-0.076;GERP++_RS_rankscore=0.130;phyloP100way_vertebrate=2.489;phyloP100way_vertebrate_rankscore=0.447;phyloP20way_mammalian=0.234;phyloP20way_mammalian_rankscore=0.260;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.764;SiPhy_29way_logOdds_rankscore=0.453;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.863e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.559e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.481e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.654604;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399576 rs55886356 C G 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=22810;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74571C:p.Q24857H,TTN:NM_133432:exon187:c.G74946C:p.Q24982H,TTN:NM_133437:exon187:c.G75147C:p.Q25049H,TTN:NM_133378:exon307:c.G94062C:p.Q31354H,TTN:NM_001256850:exon308:c.G96843C:p.Q32281H,TTN:NM_001267550:exon358:c.G101766C:p.Q33922H;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55886356;CLNALLELEID=56805;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.477;MutationTaster_pred=D;MutationAssessor_score=3.29;MutationAssessor_score_rankscore=0.905;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_converted_rankscore=0.555;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.273;VEST3_rankscore=0.483;MetaSVM_score=-0.481;MetaSVM_rankscore=0.694;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_rankscore=0.636;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.364;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.720;CADD_raw_rankscore=0.268;CADD_phred=14.52;DANN_score=0.865;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_rankscore=0.541;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.528;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.404;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.99;GERP++_RS_rankscore=0.454;phyloP100way_vertebrate=0.705;phyloP100way_vertebrate_rankscore=0.252;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=8.901;SiPhy_29way_logOdds_rankscore=0.345;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0020;AF=0.0061;AF_popmax=0.0107;AF_male=0.0066;AF_female=0.0055;AF_raw=0.0061;AF_afr=0.0013;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0107;AF_fin=0;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0105;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.536771;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179399677 rs34924609 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=23390;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74470A:p.V24824I,TTN:NM_133432:exon187:c.G74845A:p.V24949I,TTN:NM_133437:exon187:c.G75046A:p.V25016I,TTN:NM_133378:exon307:c.G93961A:p.V31321I,TTN:NM_001256850:exon308:c.G96742A:p.V32248I,TTN:NM_001267550:exon358:c.G101665A:p.V33889I;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34924609;CLNALLELEID=56803;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_rankscore=0.139;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.446;MutationTaster_pred=D;MutationAssessor_score=0.45;MutationAssessor_score_rankscore=0.128;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_converted_rankscore=0.418;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_converted_rankscore=0.236;PROVEAN_pred=N;VEST3_score=0.102;VEST3_rankscore=0.126;MetaSVM_score=-1.030;MetaSVM_rankscore=0.204;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_rankscore=0.299;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.372;M-CAP_pred=T;REVEL_score=0.060;REVEL_rankscore=0.177;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.339;CADD_raw_rankscore=0.342;CADD_phred=18.42;DANN_score=0.811;DANN_rankscore=0.131;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_rankscore=0.497;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=0.107;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=4.95;GERP++_RS_rankscore=0.648;phyloP100way_vertebrate=2.634;phyloP100way_vertebrate_rankscore=0.459;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.705;SiPhy_29way_logOdds_rankscore=0.507;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold\x3bProtein_kinase_domain|Protein_kinase-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0033;AF_popmax=0.0054;AF_male=0.0038;AF_female=0.0027;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0017;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0037322;Kaviar_AC=577;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935117;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179399936 rs55802460 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20884;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C74211G:p.V24737V,TTN:NM_133432:exon187:c.C74586G:p.V24862V,TTN:NM_133437:exon187:c.C74787G:p.V24929V,TTN:NM_133378:exon307:c.C93702G:p.V31234V,TTN:NM_001256850:exon308:c.C96483G:p.V32161V,TTN:NM_001267550:exon358:c.C101406G:p.V33802V;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55802460;CLNALLELEID=56802;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0232;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.352120;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179400586 rs202214630 A G 100 PASS AC=3;AF=0.0233626;AN=214;NS=2504;DP=19919;EAS_AF=0.0635;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202214630;CLNALLELEID=102218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0050;ExAC_nontcga_ALL=0.2625;ExAC_nontcga_AFR=0.0312;ExAC_nontcga_AMR=0.2754;ExAC_nontcga_EAS=0.3538;ExAC_nontcga_FIN=0.3905;ExAC_nontcga_NFE=0.2528;ExAC_nontcga_OTH=0.3810;ExAC_nontcga_SAS=0.0941;AF=0.0290;AF_popmax=0.0627;AF_male=0.0282;AF_female=0.0300;AF_raw=0.0249;AF_afr=0.0046;AF_sas=.;AF_amr=0.0415;AF_eas=0.0627;AF_nfe=0.0266;AF_fin=0.1297;AF_asj=0.0391;AF_oth=0.0403;non_topmed_AF_popmax=0.0629;non_neuro_AF_popmax=0.0627;non_cancer_AF_popmax=.;controls_AF_popmax=0.0592;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179400895 rs2278196 C T 100 PASS AC=13;AF=0.0654952;AN=214;NS=2504;DP=21422;EAS_AF=0.1488;AMR_AF=0.036;AFR_AF=0.0847;EUR_AF=0.0298;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.G73384A:p.V24462I,TTN:NM_133432:exon186:c.G73759A:p.V24587I,TTN:NM_133437:exon186:c.G73960A:p.V24654I,TTN:NM_133378:exon306:c.G92875A:p.V30959I,TTN:NM_001256850:exon307:c.G95656A:p.V31886I,TTN:NM_001267550:exon357:c.G100579A:p.V33527I;1000g2015aug_all=0.0654952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2278196;CLNALLELEID=56793;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.242;SIFT_converted_rankscore=0.176;SIFT_pred=T;Polyphen2_HDIV_score=0.774;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_rankscore=0.272;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.486;MutationTaster_pred=P;MutationAssessor_score=0.215;MutationAssessor_score_rankscore=0.096;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-0.5;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.238;MetaSVM_score=-0.982;MetaSVM_rankscore=0.346;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.004;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.207;REVEL_rankscore=0.500;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.526;CADD_raw_rankscore=0.481;CADD_phred=23.1;DANN_score=0.868;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.679;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.213;Eigen-PC-raw=0.374;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.730;integrated_fitCons_score_rankscore=0.875;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=4.767;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.959;SiPhy_29way_logOdds_rankscore=0.972;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0730;ExAC_nontcga_AMR=0.0279;ExAC_nontcga_EAS=0.1484;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0183;ExAC_nontcga_OTH=0.0307;ExAC_nontcga_SAS=0.0139;AF=0.0371;AF_popmax=0.1403;AF_male=0.0396;AF_female=0.0340;AF_raw=0.0371;AF_afr=0.0723;AF_sas=.;AF_amr=0.0389;AF_eas=0.1403;AF_nfe=0.0161;AF_fin=0.0006;AF_asj=0.0310;AF_oth=0.0221;non_topmed_AF_popmax=0.1392;non_neuro_AF_popmax=0.1403;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.0303554;Kaviar_AC=4693;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.346311;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401074 rs200166942 A C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21719;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.T73205G:p.V24402G,TTN:NM_133432:exon186:c.T73580G:p.V24527G,TTN:NM_133437:exon186:c.T73781G:p.V24594G,TTN:NM_133378:exon306:c.T92696G:p.V30899G,TTN:NM_001256850:exon307:c.T95477G:p.V31826G,TTN:NM_001267550:exon357:c.T100400G:p.V33467G;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200166942;CLNALLELEID=172621;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.98;MutationAssessor_score_rankscore=0.967;MutationAssessor_pred=H;FATHMM_score=-0.83;FATHMM_converted_rankscore=0.742;FATHMM_pred=T;PROVEAN_score=-5.34;PROVEAN_converted_rankscore=0.899;PROVEAN_pred=D;VEST3_score=0.52;VEST3_rankscore=0.757;MetaSVM_score=0.778;MetaSVM_rankscore=0.941;MetaSVM_pred=D;MetaLR_score=0.733;MetaLR_rankscore=0.909;MetaLR_pred=D;M-CAP_score=0.198;M-CAP_rankscore=0.866;M-CAP_pred=D;REVEL_score=0.861;REVEL_rankscore=0.958;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.164;CADD_raw_rankscore=0.321;CADD_phred=17.27;DANN_score=0.900;DANN_rankscore=0.187;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.892;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.058;Eigen-PC-raw=0.971;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.068;SiPhy_29way_logOdds_rankscore=0.806;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.027e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003363;Kaviar_AC=52;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.555167;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401311 rs397517782 C CA 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=16917;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0051;AA=?|AAAAAAAA|AAAAAAAAA|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517782;CLNALLELEID=56790;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0120;AF=0.0054;AF_popmax=0.0090;AF_male=0.0053;AF_female=0.0056;AF_raw=0.0052;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0022;AF_asj=0.0241;AF_oth=0.0096;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401740 rs55675869 C T 100 PASS AC=3;AF=0.0231629;AN=214;NS=2504;DP=17856;EAS_AF=0.0625;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72901A:p.V24301I,TTN:NM_133432:exon185:c.G73276A:p.V24426I,TTN:NM_133437:exon185:c.G73477A:p.V24493I,TTN:NM_133378:exon305:c.G92392A:p.V30798I,TTN:NM_001256850:exon306:c.G95173A:p.V31725I,TTN:NM_001267550:exon356:c.G100096A:p.V33366I;1000g2015aug_all=0.0231629;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55675869;CLNALLELEID=56789;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.141;SIFT_converted_rankscore=0.349;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.035;MutationAssessor_score_rankscore=0.558;MutationAssessor_pred=M;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.214;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.272;MetaSVM_score=-0.587;MetaSVM_rankscore=0.653;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.289;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.001;CADD_raw_rankscore=0.421;CADD_phred=22.2;DANN_score=0.889;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.727;Eigen-PC-raw=0.739;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.497;SiPhy_29way_logOdds_rankscore=0.950;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0295;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0370;ExAC_nontcga_EAS=0.0735;ExAC_nontcga_FIN=0.0684;ExAC_nontcga_NFE=0.0272;ExAC_nontcga_OTH=0.0356;ExAC_nontcga_SAS=0.0078;AF=0.0256;AF_popmax=0.0610;AF_male=0.0249;AF_female=0.0264;AF_raw=0.0256;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0610;AF_nfe=0.0244;AF_fin=0.0656;AF_asj=0.0310;AF_oth=0.0331;non_topmed_AF_popmax=0.0612;non_neuro_AF_popmax=0.0610;non_cancer_AF_popmax=.;controls_AF_popmax=0.0557;Kaviar_AF=0.0262739;Kaviar_AC=4062;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.115041;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401742 rs55742743 C T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=18018;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72899A:p.R24300Q,TTN:NM_133432:exon185:c.G73274A:p.R24425Q,TTN:NM_133437:exon185:c.G73475A:p.R24492Q,TTN:NM_133378:exon305:c.G92390A:p.R30797Q,TTN:NM_001256850:exon306:c.G95171A:p.R31724Q,TTN:NM_001267550:exon356:c.G100094A:p.R33365Q;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55742743;CLNALLELEID=56788;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.925;MutationAssessor_score_rankscore=0.847;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-3.07;PROVEAN_converted_rankscore=0.678;PROVEAN_pred=D;VEST3_score=0.282;VEST3_rankscore=0.555;MetaSVM_score=-0.120;MetaSVM_rankscore=0.797;MetaSVM_pred=T;MetaLR_score=0.316;MetaLR_rankscore=0.686;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.485;REVEL_rankscore=0.777;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.269;CADD_raw_rankscore=0.572;CADD_phred=23.9;DANN_score=0.975;DANN_rankscore=0.335;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.821;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.909;Eigen-PC-raw=0.858;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=19.497;SiPhy_29way_logOdds_rankscore=0.950;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0118;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0022;ExAC_nontcga_NFE=0.0184;ExAC_nontcga_OTH=0.0124;ExAC_nontcga_SAS=0.0070;AF=0.0119;AF_popmax=0.0195;AF_male=0.0122;AF_female=0.0115;AF_raw=0.0119;AF_afr=0.0038;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0195;AF_fin=0.0032;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0173;non_neuro_AF_popmax=0.0198;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0129235;Kaviar_AC=1998;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.243624;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179401777 rs56026369 A T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17893;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.T72864A:p.I24288I,TTN:NM_133432:exon185:c.T73239A:p.I24413I,TTN:NM_133437:exon185:c.T73440A:p.I24480I,TTN:NM_133378:exon305:c.T92355A:p.I30785I,TTN:NM_001256850:exon306:c.T95136A:p.I31712I,TTN:NM_001267550:exon356:c.T100059A:p.I33353I;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56026369;CLNALLELEID=56787;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.510863;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179402301 rs530027314 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17646;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon183:c.T72438A:p.G24146G,TTN:NM_133432:exon184:c.T72813A:p.G24271G,TTN:NM_133437:exon184:c.T73014A:p.G24338G,TTN:NM_133378:exon304:c.T91929A:p.G30643G,TTN:NM_001256850:exon305:c.T94710A:p.G31570G,TTN:NM_001267550:exon355:c.T99633A:p.G33211G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530027314;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.502e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.381445;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179402474 rs143556947 G A 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=21582;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon183:c.C72265T:p.R24089C,TTN:NM_133432:exon184:c.C72640T:p.R24214C,TTN:NM_133437:exon184:c.C72841T:p.R24281C,TTN:NM_133378:exon304:c.C91756T:p.R30586C,TTN:NM_001256850:exon305:c.C94537T:p.R31513C,TTN:NM_001267550:exon355:c.C99460T:p.R33154C;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143556947;CLNALLELEID=274602;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-5.59;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.43;VEST3_rankscore=0.566;MetaSVM_score=-0.049;MetaSVM_rankscore=0.812;MetaSVM_pred=T;MetaLR_score=0.495;MetaLR_rankscore=0.809;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.661;M-CAP_pred=D;REVEL_score=0.486;REVEL_rankscore=0.777;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.461;CADD_raw_rankscore=0.597;CADD_phred=24.2;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.927;Eigen-PC-raw=0.928;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.89;GERP++_RS_rankscore=0.947;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.256;SiPhy_29way_logOdds_rankscore=0.984;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.748e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.533e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.632990;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179403425 rs548242100 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19456;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon182:c.C71936T:p.A23979V,TTN:NM_133432:exon183:c.C72311T:p.A24104V,TTN:NM_133437:exon183:c.C72512T:p.A24171V,TTN:NM_133378:exon303:c.C91427T:p.A30476V,TTN:NM_001256850:exon304:c.C94208T:p.A31403V,TTN:NM_001267550:exon354:c.C99131T:p.A33044V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548242100;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.02;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=0.698;Polyphen2_HDIV_rankscore=0.399;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.492;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=0.215;MutationAssessor_score_rankscore=0.096;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.537;PROVEAN_pred=N;VEST3_score=0.281;VEST3_rankscore=0.340;MetaSVM_score=-0.833;MetaSVM_rankscore=0.531;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.445;M-CAP_pred=T;REVEL_score=0.210;REVEL_rankscore=0.505;MutPred_score=0.37;MutPred_rankscore=0.381;CADD_raw=3.515;CADD_raw_rankscore=0.480;CADD_phred=23.1;DANN_score=0.970;DANN_rankscore=0.312;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.649;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.516;Eigen-PC-raw=0.637;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=6.881;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.583;SiPhy_29way_logOdds_rankscore=0.994;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.472e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629516|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.927466;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179403593 rs2303539 G A 100 PASS AC=26;AF=0.185104;AN=214;NS=2504;DP=22097;EAS_AF=0.4514;AMR_AF=0.1427;AFR_AF=0.0023;EUR_AF=0.1392;SAS_AF=0.2352;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.185104;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303539;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1444;ExAC_nontcga_ALL=0.1711;ExAC_nontcga_AFR=0.0216;ExAC_nontcga_AMR=0.1478;ExAC_nontcga_EAS=0.4316;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1473;ExAC_nontcga_OTH=0.1724;ExAC_nontcga_SAS=0.2434;AF=0.1324;AF_popmax=0.4414;AF_male=0.1327;AF_female=0.1319;AF_raw=0.1323;AF_afr=0.0279;AF_sas=.;AF_amr=0.1596;AF_eas=0.4414;AF_nfe=0.1530;AF_fin=0.1491;AF_asj=0.1069;AF_oth=0.1682;non_topmed_AF_popmax=0.4406;non_neuro_AF_popmax=0.4414;non_cancer_AF_popmax=.;controls_AF_popmax=0.4297;Kaviar_AF=0.160522;Kaviar_AC=24817;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179403750 rs4894028 C T 100 PASS AC=10;AF=0.076877;AN=214;NS=2504;DP=21205;EAS_AF=0.0248;AMR_AF=0.1484;AFR_AF=0.0113;EUR_AF=0.0477;SAS_AF=0.1984;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon181:c.G71717A:p.R23906H,TTN:NM_133432:exon182:c.G72092A:p.R24031H,TTN:NM_133437:exon182:c.G72293A:p.R24098H,TTN:NM_133378:exon302:c.G91208A:p.R30403H,TTN:NM_001256850:exon303:c.G93989A:p.R31330H,TTN:NM_001267550:exon353:c.G98912A:p.R32971H;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894028;CLNALLELEID=56774;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.55;MutationAssessor_score_rankscore=0.934;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-3.71;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST3_score=0.368;VEST3_rankscore=0.458;MetaSVM_score=-0.475;MetaSVM_rankscore=0.696;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.435;REVEL_rankscore=0.743;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.332;CADD_raw_rankscore=0.580;CADD_phred=24.0;DANN_score=0.966;DANN_rankscore=0.298;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.130;Eigen-PC-raw=1.045;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.621;SiPhy_29way_logOdds_rankscore=0.995;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000266413.2|ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0287;ExAC_nontcga_ALL=0.0726;ExAC_nontcga_AFR=0.0131;ExAC_nontcga_AMR=0.1954;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0326;ExAC_nontcga_OTH=0.0768;ExAC_nontcga_SAS=0.1803;AF=0.0316;AF_popmax=0.1643;AF_male=0.0314;AF_female=0.0320;AF_raw=0.0317;AF_afr=0.0134;AF_sas=.;AF_amr=0.1643;AF_eas=0.0288;AF_nfe=0.0290;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1708;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0646175;Kaviar_AC=9990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.244583;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404197 rs55977045 T C 100 PASS AC=3;AF=0.00399361;AN=214;NS=2504;DP=22145;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71400G:p.E23800E,TTN:NM_133432:exon181:c.A71775G:p.E23925E,TTN:NM_133437:exon181:c.A71976G:p.E23992E,TTN:NM_133378:exon301:c.A90891G:p.E30297E,TTN:NM_001256850:exon302:c.A93672G:p.E31224E,TTN:NM_001267550:exon352:c.A98595G:p.E32865E;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55977045;CLNALLELEID=56768;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0166;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0113;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0021;AF=0.0108;AF_popmax=0.0163;AF_male=0.0109;AF_female=0.0106;AF_raw=0.0108;AF_afr=0.0029;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0092;AF_asj=0.0310;AF_oth=0.0119;non_topmed_AF_popmax=0.0151;non_neuro_AF_popmax=0.0166;non_cancer_AF_popmax=.;controls_AF_popmax=0.0120;Kaviar_AF=0.012102;Kaviar_AC=1871;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.947865;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404293 rs138968178 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21721;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71304T:p.L23768L,TTN:NM_133432:exon181:c.C71679T:p.L23893L,TTN:NM_133437:exon181:c.C71880T:p.L23960L,TTN:NM_133378:exon301:c.C90795T:p.L30265L,TTN:NM_001256850:exon302:c.C93576T:p.L31192L,TTN:NM_001267550:exon352:c.C98499T:p.L32833L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138968178;CLNALLELEID=56767;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.229635;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404402 rs149001703 T C 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=21346;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149001703;CLNALLELEID=56764;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.272;SIFT_converted_rankscore=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_rankscore=0.236;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.313;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.926;MutationTaster_converted_rankscore=0.368;MutationTaster_pred=D;MutationAssessor_score=-1.165;MutationAssessor_score_rankscore=0.009;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=-2.26;PROVEAN_converted_rankscore=0.505;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.103;MetaSVM_score=-0.942;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.102;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.176;REVEL_rankscore=0.449;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.106;CADD_raw_rankscore=0.200;CADD_phred=11.25;DANN_score=0.944;DANN_rankscore=0.243;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.746;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.233;Eigen-PC-raw=0.071;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.865;phyloP100way_vertebrate_rankscore=0.625;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.883;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0067;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0009;AF=0.0036;AF_popmax=0.0106;AF_male=0.0041;AF_female=0.0029;AF_raw=0.0036;AF_afr=0.0010;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0056;AF_fin=0.0006;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0087;non_neuro_AF_popmax=0.0127;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0047412;Kaviar_AC=733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.955154;ALLELE_END;VINYL_score=13.5 GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179404461 rs527806107 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22560;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.G71136A:p.L23712L,TTN:NM_133432:exon181:c.G71511A:p.L23837L,TTN:NM_133437:exon181:c.G71712A:p.L23904L,TTN:NM_133378:exon301:c.G90627A:p.L30209L,TTN:NM_001256850:exon302:c.G93408A:p.L31136L,TTN:NM_001267550:exon352:c.G98331A:p.L32777L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527806107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.477e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.447063;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404498 rs72648273 G C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=23934;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71099G:p.A23700G,TTN:NM_133432:exon181:c.C71474G:p.A23825G,TTN:NM_133437:exon181:c.C71675G:p.A23892G,TTN:NM_133378:exon301:c.C90590G:p.A30197G,TTN:NM_001256850:exon302:c.C93371G:p.A31124G,TTN:NM_001267550:exon352:c.C98294G:p.A32765G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648273;CLNALLELEID=56762;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.66;MutationAssessor_score_rankscore=0.781;MutationAssessor_pred=M;FATHMM_score=-0.53;FATHMM_converted_rankscore=0.708;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_converted_rankscore=0.672;PROVEAN_pred=D;VEST3_score=0.273;VEST3_rankscore=0.380;MetaSVM_score=-0.043;MetaSVM_rankscore=0.814;MetaSVM_pred=T;MetaLR_score=0.516;MetaLR_rankscore=0.819;MetaLR_pred=D;M-CAP_score=0.013;M-CAP_rankscore=0.317;M-CAP_pred=T;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.862;CADD_raw_rankscore=0.405;CADD_phred=21.7;DANN_score=0.954;DANN_rankscore=0.262;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.789;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.932;Eigen-PC-raw=0.954;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0028;AF_popmax=0.0043;AF_male=0.0023;AF_female=0.0034;AF_raw=0.0028;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0043;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0027167;Kaviar_AC=420;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.221837;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404550 rs72648272 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=23879;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.C71047T:p.R23683C,TTN:NM_133432:exon181:c.C71422T:p.R23808C,TTN:NM_133437:exon181:c.C71623T:p.R23875C,TTN:NM_133378:exon301:c.C90538T:p.R30180C,TTN:NM_001256850:exon302:c.C93319T:p.R31107C,TTN:NM_001267550:exon352:c.C98242T:p.R32748C;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648272;CLNALLELEID=56760;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.11;MutationAssessor_score_rankscore=0.880;MutationAssessor_pred=M;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-5.83;PROVEAN_converted_rankscore=0.915;PROVEAN_pred=D;VEST3_score=0.411;VEST3_rankscore=0.563;MetaSVM_score=-0.395;MetaSVM_rankscore=0.722;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_rankscore=0.688;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.354;REVEL_rankscore=0.679;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.839;CADD_raw_rankscore=0.518;CADD_phred=23.4;DANN_score=0.944;DANN_rankscore=0.242;fathmm-MKL_coding_score=0.888;fathmm-MKL_coding_rankscore=0.486;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.870;Eigen-PC-raw=0.835;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.451;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.23;GERP++_RS_rankscore=0.725;phyloP100way_vertebrate=3.915;phyloP100way_vertebrate_rankscore=0.559;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=12.055;SiPhy_29way_logOdds_rankscore=0.526;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0028;AF=0.0058;AF_popmax=0.0104;AF_male=0.0050;AF_female=0.0068;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0194;Kaviar_AF=0.0038615;Kaviar_AC=597;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.356611;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404628 rs72648270 T A 100 PASS AC=13;AF=0.0425319;AN=214;NS=2504;DP=24155;EAS_AF=0.1488;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.0298;SAS_AF=0.0112;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A70969T:p.I23657F,TTN:NM_133432:exon181:c.A71344T:p.I23782F,TTN:NM_133437:exon181:c.A71545T:p.I23849F,TTN:NM_133378:exon301:c.A90460T:p.I30154F,TTN:NM_001256850:exon302:c.A93241T:p.I31081F,TTN:NM_001267550:exon352:c.A98164T:p.I32722F;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648270;CLNALLELEID=56759;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.218;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.939;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=P;MutationAssessor_score=1.41;MutationAssessor_score_rankscore=0.357;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_converted_rankscore=0.441;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.423;VEST3_rankscore=0.574;MetaSVM_score=-1.191;MetaSVM_rankscore=0.002;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.180;REVEL_rankscore=0.456;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.893;CADD_raw_rankscore=0.408;CADD_phred=21.8;DANN_score=0.833;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.532;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.641;Eigen-PC-raw=0.658;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=3.395;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0170;ExAC_nontcga_ALL=0.0256;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0248;ExAC_nontcga_EAS=0.1488;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0135;AF=0.0175;AF_popmax=0.1412;AF_male=0.0187;AF_female=0.0160;AF_raw=0.0175;AF_afr=0.0038;AF_sas=.;AF_amr=0.0318;AF_eas=0.1412;AF_nfe=0.0159;AF_fin=0.0003;AF_asj=0.0310;AF_oth=0.0147;non_topmed_AF_popmax=0.1408;non_neuro_AF_popmax=0.1412;non_cancer_AF_popmax=.;controls_AF_popmax=0.1519;Kaviar_AF=0.0247927;Kaviar_AC=3833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1300393|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.370116;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179404786 rs2288325 A T 100 PASS AC=26;AF=0.232628;AN=214;NS=2504;DP=23101;EAS_AF=0.4544;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1382;SAS_AF=0.2689;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.232628;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288325;CLNALLELEID=56758;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1464;ExAC_nontcga_ALL=0.1864;ExAC_nontcga_AFR=0.1433;ExAC_nontcga_AMR=0.1539;ExAC_nontcga_EAS=0.4329;ExAC_nontcga_FIN=0.1480;ExAC_nontcga_NFE=0.1476;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.2716;AF=0.1649;AF_popmax=0.4429;AF_male=0.1652;AF_female=0.1645;AF_raw=0.1650;AF_afr=0.1425;AF_sas=.;AF_amr=0.1643;AF_eas=0.4429;AF_nfe=0.1532;AF_fin=0.1488;AF_asj=0.1207;AF_oth=0.1786;non_topmed_AF_popmax=0.4422;non_neuro_AF_popmax=0.4429;non_cancer_AF_popmax=.;controls_AF_popmax=0.4314;Kaviar_AF=0.176259;Kaviar_AC=27250;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.277699;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179406003 rs3731750 C A 100 PASS AC=56;AF=0.504593;AN=214;NS=2504;DP=20236;EAS_AF=0.7133;AMR_AF=0.402;AFR_AF=0.5605;EUR_AF=0.2485;SAS_AF=0.5501;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.504593;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731750;CLNALLELEID=56754;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.06;esp6500siv2_ea=0.2102;ExAC_nontcga_ALL=0.4197;ExAC_nontcga_AFR=0.5646;ExAC_nontcga_AMR=0.4467;ExAC_nontcga_EAS=0.7235;ExAC_nontcga_FIN=0.2867;ExAC_nontcga_NFE=0.2808;ExAC_nontcga_OTH=0.4535;ExAC_nontcga_SAS=0.6018;AF=0.3465;AF_popmax=0.6911;AF_male=0.3521;AF_female=0.3396;AF_raw=0.3468;AF_afr=0.5314;AF_sas=.;AF_amr=0.4090;AF_eas=0.6911;AF_nfe=0.2274;AF_fin=0.2690;AF_asj=0.2326;AF_oth=0.2974;non_topmed_AF_popmax=0.6906;non_neuro_AF_popmax=0.6911;non_cancer_AF_popmax=.;controls_AF_popmax=0.6765;Kaviar_AF=0.185942;Kaviar_AC=28747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588161;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179406191 rs3731749 C T 100 PASS AC=26;AF=0.209265;AN=214;NS=2504;DP=15530;EAS_AF=0.4514;AMR_AF=0.1484;AFR_AF=0.0666;EUR_AF=0.1382;SAS_AF=0.2689;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H;1000g2015aug_all=0.209265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731749;CLNALLELEID=56750;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.96;MutationAssessor_score_rankscore=0.854;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_converted_rankscore=0.751;PROVEAN_pred=D;VEST3_score=0.277;VEST3_rankscore=0.483;MetaSVM_score=-1.035;MetaSVM_rankscore=0.187;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.482;REVEL_rankscore=0.775;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.326;CADD_raw_rankscore=0.721;CADD_phred=25.8;DANN_score=0.986;DANN_rankscore=0.434;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.822;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.859;Eigen-PC-raw=0.849;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.902;phyloP100way_vertebrate_rankscore=0.860;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=19.871;SiPhy_29way_logOdds_rankscore=0.968;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1453;ExAC_nontcga_ALL=0.1809;ExAC_nontcga_AFR=0.0701;ExAC_nontcga_AMR=0.1527;ExAC_nontcga_EAS=0.4308;ExAC_nontcga_FIN=0.1482;ExAC_nontcga_NFE=0.1476;ExAC_nontcga_OTH=0.1731;ExAC_nontcga_SAS=0.2624;AF=0.1444;AF_popmax=0.4349;AF_male=0.1448;AF_female=0.1441;AF_raw=0.1449;AF_afr=0.0734;AF_sas=.;AF_amr=0.1592;AF_eas=0.4349;AF_nfe=0.1528;AF_fin=0.1491;AF_asj=0.1069;AF_oth=0.1685;non_topmed_AF_popmax=0.4339;non_neuro_AF_popmax=0.4349;non_cancer_AF_popmax=.;controls_AF_popmax=0.4233;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.437378;ALLELE_END;VINYL_score=4 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179407663 rs72648266 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=21328;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon176:c.C69723T:p.I23241I,TTN:NM_133432:exon177:c.C70098T:p.I23366I,TTN:NM_133437:exon177:c.C70299T:p.I23433I,TTN:NM_133378:exon297:c.C89214T:p.I29738I,TTN:NM_001256850:exon298:c.C91995T:p.I30665I,TTN:NM_001267550:exon348:c.C96918T:p.I32306I;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648266;CLNALLELEID=56737;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0006;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.824661;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179408713 rs62621236 A G 100 PASS AC=11;AF=0.115815;AN=214;NS=2504;DP=18933;EAS_AF=0.0258;AMR_AF=0.1643;AFR_AF=0.146;EUR_AF=0.0517;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon174:c.T68963C:p.I22988T,TTN:NM_133432:exon175:c.T69338C:p.I23113T,TTN:NM_133437:exon175:c.T69539C:p.I23180T,TTN:NM_133378:exon295:c.T88454C:p.I29485T,TTN:NM_001256850:exon296:c.T91235C:p.I30412T,TTN:NM_001267550:exon346:c.T96158C:p.I32053T;1000g2015aug_all=0.115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621236;CLNALLELEID=56730;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.152;SIFT_converted_rankscore=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_rankscore=0.184;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_rankscore=0.212;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.193;MutationTaster_converted_rankscore=0.377;MutationTaster_pred=P;MutationAssessor_score=0.17;MutationAssessor_score_rankscore=0.090;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.667;PROVEAN_pred=D;VEST3_score=0.337;VEST3_rankscore=0.398;MetaSVM_score=-1.074;MetaSVM_rankscore=0.086;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.368;CADD_raw_rankscore=0.346;CADD_phred=18.61;DANN_score=0.886;DANN_rankscore=0.175;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.090;Eigen-PC-raw=0.158;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=6.294;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.996;SiPhy_29way_logOdds_rankscore=0.800;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0322;ExAC_nontcga_ALL=0.0853;ExAC_nontcga_AFR=0.1465;ExAC_nontcga_AMR=0.2029;ExAC_nontcga_EAS=0.0237;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0344;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.1820;AF=0.0694;AF_popmax=0.1769;AF_male=0.0710;AF_female=0.0674;AF_raw=0.0696;AF_afr=0.1441;AF_sas=.;AF_amr=0.1769;AF_eas=0.0289;AF_nfe=0.0308;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0561;non_topmed_AF_popmax=0.1827;non_neuro_AF_popmax=0.1841;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.0767002;Kaviar_AC=11858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.837078;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410282 rs62621206 A G 100 PASS AC=3;AF=0.00559105;AN=214;NS=2504;DP=19868;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon172:c.T68360C:p.L22787P,TTN:NM_133432:exon173:c.T68735C:p.L22912P,TTN:NM_133437:exon173:c.T68936C:p.L22979P,TTN:NM_133378:exon293:c.T87851C:p.L29284P,TTN:NM_001256850:exon294:c.T90632C:p.L30211P,TTN:NM_001267550:exon344:c.T95555C:p.L31852P;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62621206;CLNALLELEID=56723;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.144;SIFT_converted_rankscore=0.252;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.522;Polyphen2_HVAR_rankscore=0.465;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.05;MutationAssessor_score_rankscore=0.269;MutationAssessor_pred=L;FATHMM_score=0.47;FATHMM_converted_rankscore=0.561;FATHMM_pred=T;PROVEAN_score=-4.39;PROVEAN_converted_rankscore=0.772;PROVEAN_pred=D;VEST3_score=0.489;VEST3_rankscore=0.559;MetaSVM_score=-0.931;MetaSVM_rankscore=0.440;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.345;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.442;CADD_raw_rankscore=0.355;CADD_phred=19.09;DANN_score=0.963;DANN_rankscore=0.289;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_rankscore=0.575;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.300;Eigen-PC-raw=0.343;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.338;integrated_fitCons_score=0.461;integrated_fitCons_score_rankscore=0.090;integrated_confidence_value=0;GERP++_RS=4.66;GERP++_RS_rankscore=0.577;phyloP100way_vertebrate=3.591;phyloP100way_vertebrate_rankscore=0.535;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=11.993;SiPhy_29way_logOdds_rankscore=0.523;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0159;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0158;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0028;AF=0.0102;AF_popmax=0.0143;AF_male=0.0104;AF_female=0.0099;AF_raw=0.0102;AF_afr=0.0039;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0104;AF_asj=0.0207;AF_oth=0.0092;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0104979;Kaviar_AC=1623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.023311;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410468 rs147802147 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23129;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147802147;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0232;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035446;Kaviar_AC=548;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410666 rs191484894 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21235;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191484894;CLNALLELEID=56719;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.585;MutationAssessor_score_rankscore=0.400;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-4.0;PROVEAN_converted_rankscore=0.807;PROVEAN_pred=D;VEST3_score=0.427;VEST3_rankscore=0.582;MetaSVM_score=-0.126;MetaSVM_rankscore=0.795;MetaSVM_pred=T;MetaLR_score=0.442;MetaLR_rankscore=0.780;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.466;REVEL_rankscore=0.764;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.870;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.973;DANN_rankscore=0.325;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.843;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.843;Eigen-PC-raw=0.802;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=8.055;phyloP100way_vertebrate_rankscore=0.892;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.896;phastCons20way_mammalian_rankscore=0.378;SiPhy_29way_logOdds=20.109;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.604288;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410704 rs72648258 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21286;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68064T:p.L22688L,TTN:NM_133432:exon172:c.C68439T:p.L22813L,TTN:NM_133437:exon172:c.C68640T:p.L22880L,TTN:NM_133378:exon292:c.C87555T:p.L29185L,TTN:NM_001256850:exon293:c.C90336T:p.L30112L,TTN:NM_001267550:exon343:c.C95259T:p.L31753L;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648258;CLNALLELEID=56718;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0108;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0118;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0030;AF=0.0068;AF_popmax=0.0104;AF_male=0.0065;AF_female=0.0073;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.115024;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179410815 rs140663434 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21852;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C67953T:p.T22651T,TTN:NM_133432:exon172:c.C68328T:p.T22776T,TTN:NM_133437:exon172:c.C68529T:p.T22843T,TTN:NM_133378:exon292:c.C87444T:p.T29148T,TTN:NM_001256850:exon293:c.C90225T:p.T30075T,TTN:NM_001267550:exon343:c.C95148T:p.T31716T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140663434;CLNALLELEID=56714;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.040376;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411011 rs72648257 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23533;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.A67852G:p.S22618G,TTN:NM_133432:exon171:c.A68227G:p.S22743G,TTN:NM_133437:exon171:c.A68428G:p.S22810G,TTN:NM_133378:exon291:c.A87343G:p.S29115G,TTN:NM_001256850:exon292:c.A90124G:p.S30042G,TTN:NM_001267550:exon342:c.A95047G:p.S31683G;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648257;CLNALLELEID=56711;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.245;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.63;Polyphen2_HVAR_rankscore=0.499;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.507;MutationTaster_converted_rankscore=0.318;MutationTaster_pred=D;MutationAssessor_score=0.775;MutationAssessor_score_rankscore=0.195;MutationAssessor_pred=N;FATHMM_score=-0.38;FATHMM_converted_rankscore=0.690;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_converted_rankscore=0.605;PROVEAN_pred=D;VEST3_score=0.135;VEST3_rankscore=0.171;MetaSVM_score=-0.637;MetaSVM_rankscore=0.633;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.158;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.667;CADD_raw_rankscore=0.262;CADD_phred=14.22;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.685;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.521;Eigen-PC-raw=0.539;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.418;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=4.928;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=9.834;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0665;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0554;AF_male=0.0231;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0554;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0561;non_neuro_AF_popmax=0.0554;non_cancer_AF_popmax=.;controls_AF_popmax=0.0482;Kaviar_AF=0.0243658;Kaviar_AC=3767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.009037;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411207 rs72648256 A T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=21582;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648256;CLNALLELEID=56709;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=2.37;MutationAssessor_score_rankscore=0.685;MutationAssessor_pred=M;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-2.75;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.189;VEST3_rankscore=0.303;MetaSVM_score=-0.082;MetaSVM_rankscore=0.805;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_rankscore=0.799;MetaLR_pred=T;M-CAP_score=0.039;M-CAP_rankscore=0.585;M-CAP_pred=D;REVEL_score=0.362;REVEL_rankscore=0.686;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.403;CADD_raw_rankscore=0.350;CADD_phred=18.84;DANN_score=0.935;DANN_rankscore=0.228;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.621;Eigen-PC-raw=0.590;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.429;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.88;GERP++_RS_rankscore=0.630;phyloP100way_vertebrate=4.287;phyloP100way_vertebrate_rankscore=0.586;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.145;SiPhy_29way_logOdds_rankscore=0.359;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0014;AF=0.0020;AF_popmax=0.0059;AF_male=0.0015;AF_female=0.0026;AF_raw=0.0020;AF_afr=0.0002;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0003;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0029236;Kaviar_AC=452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.551689;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411212 rs72648255 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21850;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon170:c.C67651T:p.L22551L,TTN:NM_133432:exon171:c.C68026T:p.L22676L,TTN:NM_133437:exon171:c.C68227T:p.L22743L,TTN:NM_133378:exon291:c.C87142T:p.L29048L,TTN:NM_001256850:exon292:c.C89923T:p.L29975L,TTN:NM_001267550:exon342:c.C94846T:p.L31616L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648255;CLNALLELEID=56708;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0009;AF=0.0009;AF_popmax=0.0014;AF_male=0.0010;AF_female=0.0007;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.603683;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179411665 rs2288327 A G 100 PASS AC=41;AF=0.327476;AN=214;NS=2504;DP=24149;EAS_AF=0.63;AMR_AF=0.1988;AFR_AF=0.289;EUR_AF=0.172;SAS_AF=0.319;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.327476;GWAS=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;ORegAnno_REGULATORY_P=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;avsnp150=rs2288327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1683;ExAC_nontcga_ALL=0.2339;ExAC_nontcga_AFR=0.2791;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.6064;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1702;ExAC_nontcga_OTH=0.2204;ExAC_nontcga_SAS=0.3320;AF=0.2252;AF_popmax=0.6101;AF_male=0.2294;AF_female=0.2199;AF_raw=0.2252;AF_afr=0.2812;AF_sas=.;AF_amr=0.2075;AF_eas=0.6101;AF_nfe=0.1720;AF_fin=0.1631;AF_asj=0.1655;AF_oth=0.2123;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6101;non_cancer_AF_popmax=.;controls_AF_popmax=0.6018;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.327476;GWAS=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;ORegAnno_REGULATORY_P=rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737;avsnp150=rs2288327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1683;ExAC_nontcga_ALL=0.2339;ExAC_nontcga_AFR=0.2791;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.6064;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1702;ExAC_nontcga_OTH=0.2204;ExAC_nontcga_SAS=0.3320;AF=0.2252;AF_popmax=0.6101;AF_male=0.2294;AF_female=0.2199;AF_raw=0.2252;AF_afr=0.2812;AF_sas=.;AF_amr=0.2075;AF_eas=0.6101;AF_nfe=0.1720;AF_fin=0.1631;AF_asj=0.1655;AF_oth=0.2123;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6101;non_cancer_AF_popmax=.;controls_AF_popmax=0.6018;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179412966 rs35445420 G A 100 PASS AC=3;AF=0.00898562;AN=214;NS=2504;DP=22476;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0229;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66192T:p.S22064S,TTN:NM_133432:exon168:c.C66567T:p.S22189S,TTN:NM_133437:exon168:c.C66768T:p.S22256S,TTN:NM_133378:exon288:c.C85683T:p.S28561S,TTN:NM_001256850:exon289:c.C88464T:p.S29488S,TTN:NM_001267550:exon339:c.C93387T:p.S31129S;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35445420;CLNALLELEID=56696;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0284;ExAC_nontcga_ALL=0.0208;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0131;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0278;ExAC_nontcga_NFE=0.0322;ExAC_nontcga_OTH=0.0246;ExAC_nontcga_SAS=0.0043;AF=0.0213;AF_popmax=0.0315;AF_male=0.0202;AF_female=0.0226;AF_raw=0.0213;AF_afr=0.0045;AF_sas=.;AF_amr=0.0236;AF_eas=0.0006;AF_nfe=0.0315;AF_fin=0.0259;AF_asj=0.0035;AF_oth=0.0285;non_topmed_AF_popmax=0.0320;non_neuro_AF_popmax=0.0320;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0213839;Kaviar_AC=3306;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.418712;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179413110 rs3731748 G A 100 PASS AC=26;AF=0.234225;AN=214;NS=2504;DP=23794;EAS_AF=0.4514;AMR_AF=0.1571;AFR_AF=0.1483;EUR_AF=0.1382;SAS_AF=0.2802;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A;1000g2015aug_all=0.234225;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731748;CLNALLELEID=56694;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1460;ExAC_nontcga_ALL=0.1873;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.1532;ExAC_nontcga_EAS=0.4320;ExAC_nontcga_FIN=0.1479;ExAC_nontcga_NFE=0.1474;ExAC_nontcga_OTH=0.1739;ExAC_nontcga_SAS=0.2661;AF=0.1643;AF_popmax=0.4408;AF_male=0.1649;AF_female=0.1636;AF_raw=0.1643;AF_afr=0.1418;AF_sas=.;AF_amr=0.1627;AF_eas=0.4408;AF_nfe=0.1529;AF_fin=0.1490;AF_asj=0.1207;AF_oth=0.1765;non_topmed_AF_popmax=0.4401;non_neuro_AF_popmax=0.4408;non_cancer_AF_popmax=.;controls_AF_popmax=0.4322;Kaviar_AF=0.174946;Kaviar_AC=27047;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.849898;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179413452 rs11694623 G A 100 PASS AC=7;AF=0.0121805;AN=214;NS=2504;DP=23189;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C65706T:p.S21902S,TTN:NM_133432:exon168:c.C66081T:p.S22027S,TTN:NM_133437:exon168:c.C66282T:p.S22094S,TTN:NM_133378:exon288:c.C85197T:p.S28399S,TTN:NM_001256850:exon289:c.C87978T:p.S29326S,TTN:NM_001267550:exon339:c.C92901T:p.S30967S;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11694623;CLNALLELEID=56693;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0315;ExAC_nontcga_ALL=0.0188;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0045;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0054;AF=0.0154;AF_popmax=0.0271;AF_male=0.0171;AF_female=0.0132;AF_raw=0.0153;AF_afr=0.0047;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0242;AF_fin=0.0040;AF_asj=0.0276;AF_oth=0.0193;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0200321;Kaviar_AC=3097;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.693281;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179413657 rs373727636 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23097;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.T65501C:p.I21834T,TTN:NM_133432:exon168:c.T65876C:p.I21959T,TTN:NM_133437:exon168:c.T66077C:p.I22026T,TTN:NM_133378:exon288:c.T84992C:p.I28331T,TTN:NM_001256850:exon289:c.T87773C:p.I29258T,TTN:NM_001267550:exon339:c.T92696C:p.I30899T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373727636;CLNALLELEID=173074;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=0.062;Polyphen2_HDIV_rankscore=0.278;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.968;MutationTaster_converted_rankscore=0.392;MutationTaster_pred=D;MutationAssessor_score=0.465;MutationAssessor_score_rankscore=0.131;MutationAssessor_pred=N;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-3.08;PROVEAN_converted_rankscore=0.683;PROVEAN_pred=D;VEST3_score=0.291;VEST3_rankscore=0.414;MetaSVM_score=-0.913;MetaSVM_rankscore=0.465;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.433;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.456;M-CAP_pred=T;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.176;CADD_raw_rankscore=0.323;CADD_phred=17.35;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.961;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.141;Eigen-PC-raw=0.326;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=15.873;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.663835;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414177 rs72648247 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21607;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C64981T:p.P21661S,TTN:NM_133432:exon168:c.C65356T:p.P21786S,TTN:NM_133437:exon168:c.C65557T:p.P21853S,TTN:NM_133378:exon288:c.C84472T:p.P28158S,TTN:NM_001256850:exon289:c.C87253T:p.P29085S,TTN:NM_001267550:exon339:c.C92176T:p.P30726S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648247;CLNALLELEID=56684;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.235;MutationAssessor_score_rankscore=0.980;MutationAssessor_pred=H;FATHMM_score=0.36;FATHMM_converted_rankscore=0.579;FATHMM_pred=T;PROVEAN_score=-5.85;PROVEAN_converted_rankscore=0.934;PROVEAN_pred=D;VEST3_score=0.187;VEST3_rankscore=0.394;MetaSVM_score=0.361;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.542;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.071;M-CAP_rankscore=0.713;M-CAP_pred=D;REVEL_score=0.520;REVEL_rankscore=0.798;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.180;CADD_raw_rankscore=0.323;CADD_phred=17.38;DANN_score=0.911;DANN_rankscore=0.197;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.957;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.049;Eigen-PC-raw=0.936;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=8.146;phyloP100way_vertebrate_rankscore=0.895;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.854;phastCons20way_mammalian_rankscore=0.356;SiPhy_29way_logOdds=20.279;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0050;AF=0.0019;AF_popmax=0.0036;AF_male=0.0019;AF_female=0.0019;AF_raw=0.0019;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0043;Kaviar_AF=0.0024838;Kaviar_AC=384;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.875263;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414318 rs747122 C T 100 PASS AC=10;AF=0.15016;AN=214;NS=2504;DP=21696;EAS_AF=0.0248;AMR_AF=0.1787;AFR_AF=0.2731;EUR_AF=0.0487;SAS_AF=0.1973;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon166:c.G64936A:p.V21646M,TTN:NM_133432:exon167:c.G65311A:p.V21771M,TTN:NM_133437:exon167:c.G65512A:p.V21838M,TTN:NM_133378:exon287:c.G84427A:p.V28143M,TTN:NM_001256850:exon288:c.G87208A:p.V29070M,TTN:NM_001267550:exon338:c.G92131A:p.V30711M;1000g2015aug_all=0.15016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs747122;CLNALLELEID=56683;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.542;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.618;Polyphen2_HVAR_rankscore=0.520;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.003;MutationTaster_converted_rankscore=0.441;MutationTaster_pred=P;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=-2.08;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.233;VEST3_rankscore=0.313;MetaSVM_score=-1.126;MetaSVM_rankscore=0.020;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.226;REVEL_rankscore=0.529;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.929;CADD_raw_rankscore=0.412;CADD_phred=22.0;DANN_score=0.944;DANN_rankscore=0.242;fathmm-MKL_coding_score=0.859;fathmm-MKL_coding_rankscore=0.448;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.548;Eigen-PC-raw=0.570;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.371;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=0.919;phyloP100way_vertebrate_rankscore=0.281;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.898;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.858;SiPhy_29way_logOdds_rankscore=0.787;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0950;ExAC_nontcga_AFR=0.2632;ExAC_nontcga_AMR=0.2078;ExAC_nontcga_EAS=0.0238;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0338;ExAC_nontcga_OTH=0.0828;ExAC_nontcga_SAS=0.1834;AF=0.0990;AF_popmax=0.2510;AF_male=0.1011;AF_female=0.0963;AF_raw=0.0992;AF_afr=0.2510;AF_sas=.;AF_amr=0.1804;AF_eas=0.0289;AF_nfe=0.0302;AF_fin=0.0535;AF_asj=0.0310;AF_oth=0.0588;non_topmed_AF_popmax=0.2520;non_neuro_AF_popmax=0.2438;non_cancer_AF_popmax=.;controls_AF_popmax=0.2539;Kaviar_AF=0.0856975;Kaviar_AC=13249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.748916;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414633 rs890578 C A 100 PASS AC=41;AF=0.323482;AN=214;NS=2504;DP=20619;EAS_AF=0.63;AMR_AF=0.1988;AFR_AF=0.2784;EUR_AF=0.171;SAS_AF=0.3139;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs890578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1680;ExAC_nontcga_ALL=0.2291;ExAC_nontcga_AFR=0.2636;ExAC_nontcga_AMR=0.1840;ExAC_nontcga_EAS=0.6039;ExAC_nontcga_FIN=0.1653;ExAC_nontcga_NFE=0.1686;ExAC_nontcga_OTH=0.2218;ExAC_nontcga_SAS=0.3218;AF=0.2208;AF_popmax=0.6057;AF_male=0.2248;AF_female=0.2158;AF_raw=0.2206;AF_afr=0.2662;AF_sas=.;AF_amr=0.2028;AF_eas=0.6057;AF_nfe=0.1721;AF_fin=0.1636;AF_asj=0.1655;AF_oth=0.2098;non_topmed_AF_popmax=0.6044;non_neuro_AF_popmax=0.6057;non_cancer_AF_popmax=.;controls_AF_popmax=0.5989;Kaviar_AF=0.213367;Kaviar_AC=32987;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179414705 rs56145100 A T 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=20212;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56145100;CLNALLELEID=56679;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.114;esp6500siv2_ea=0.0196;ExAC_nontcga_ALL=0.0283;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0355;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0267;ExAC_nontcga_OTH=0.0289;ExAC_nontcga_SAS=0.0084;AF=0.0235;AF_popmax=0.0558;AF_male=0.0231;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0558;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0304;non_topmed_AF_popmax=0.0565;non_neuro_AF_popmax=0.0558;non_cancer_AF_popmax=.;controls_AF_popmax=0.0480;Kaviar_AF=0.0248574;Kaviar_AC=3843;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.211971;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179414800 rs148617456 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19806;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148617456;CLNALLELEID=56678;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.041;SIFT_converted_rankscore=0.419;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.15;MutationAssessor_score_rankscore=0.294;MutationAssessor_pred=L;FATHMM_score=-0.5;FATHMM_converted_rankscore=0.705;FATHMM_pred=T;PROVEAN_score=-2.78;PROVEAN_converted_rankscore=0.660;PROVEAN_pred=D;VEST3_score=0.318;VEST3_rankscore=0.477;MetaSVM_score=-0.069;MetaSVM_rankscore=0.808;MetaSVM_pred=T;MetaLR_score=0.488;MetaLR_rankscore=0.805;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.416;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.867;CADD_raw_rankscore=0.522;CADD_phred=23.5;DANN_score=0.985;DANN_rankscore=0.414;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.729;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.731;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=4.921;phyloP100way_vertebrate_rankscore=0.629;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=20.298;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128310;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415013 rs200847757 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19037;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200847757;CLNALLELEID=56674;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0256;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036351;Kaviar_AC=562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415833 rs145133144 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon164:c.C64230T:p.D21410D,TTN:NM_133432:exon165:c.C64605T:p.D21535D,TTN:NM_133437:exon165:c.C64806T:p.D21602D,TTN:NM_133378:exon285:c.C83721T:p.D27907D,TTN:NM_001256850:exon286:c.C86502T:p.D28834D,TTN:NM_001267550:exon336:c.C91425T:p.D30475D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145133144;CLNALLELEID=56672;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0001;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.056252;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179415942 rs561319486 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15522;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon164:c.T64121G:p.I21374S,TTN:NM_133432:exon165:c.T64496G:p.I21499S,TTN:NM_133437:exon165:c.T64697G:p.I21566S,TTN:NM_133378:exon285:c.T83612G:p.I27871S,TTN:NM_001256850:exon286:c.T86393G:p.I28798S,TTN:NM_001267550:exon336:c.T91316G:p.I30439S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561319486;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.901;Polyphen2_HDIV_rankscore=0.477;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.583;Polyphen2_HVAR_rankscore=0.484;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=2.905;MutationAssessor_score_rankscore=0.843;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.769;PROVEAN_pred=D;VEST3_score=0.474;VEST3_rankscore=0.766;MetaSVM_score=-0.624;MetaSVM_rankscore=0.639;MetaSVM_pred=T;MetaLR_score=0.233;MetaLR_rankscore=0.600;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.715;M-CAP_pred=D;REVEL_score=0.450;REVEL_rankscore=0.754;MutPred_score=0.621;MutPred_rankscore=0.756;CADD_raw=3.814;CADD_raw_rankscore=0.515;CADD_phred=23.4;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.898;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.643;Eigen-PC-raw=0.709;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.329;SiPhy_29way_logOdds_rankscore=0.828;Interpro_domain=Fibronectin_type_III\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.491e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.531104;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179416556 rs11897366 A C 100 PASS AC=11;AF=0.152356;AN=214;NS=2504;DP=22144;EAS_AF=0.0258;AMR_AF=0.183;AFR_AF=0.2738;EUR_AF=0.0527;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63876G:p.T21292T,TTN:NM_133432:exon164:c.T64251G:p.T21417T,TTN:NM_133437:exon164:c.T64452G:p.T21484T,TTN:NM_133378:exon284:c.T83367G:p.T27789T,TTN:NM_001256850:exon285:c.T86148G:p.T28716T,TTN:NM_001267550:exon335:c.T91071G:p.T30357T;1000g2015aug_all=0.152356;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11897366;CLNALLELEID=56668;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0328;ExAC_nontcga_ALL=0.0959;ExAC_nontcga_AFR=0.2644;ExAC_nontcga_AMR=0.2089;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.1820;AF=0.1004;AF_popmax=0.2525;AF_male=0.1030;AF_female=0.0971;AF_raw=0.1006;AF_afr=0.2525;AF_sas=.;AF_amr=0.1797;AF_eas=0.0283;AF_nfe=0.0319;AF_fin=0.0533;AF_asj=0.0310;AF_oth=0.0639;non_topmed_AF_popmax=0.2536;non_neuro_AF_popmax=0.2454;non_cancer_AF_popmax=.;controls_AF_popmax=0.2558;Kaviar_AF=0.0863702;Kaviar_AC=13353;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.389048;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179416801 rs150430592 A C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23705;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150430592;CLNALLELEID=56665;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.023;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.315;MutationAssessor_score_rankscore=0.103;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-7.8;PROVEAN_converted_rankscore=0.959;PROVEAN_pred=D;VEST3_score=0.507;VEST3_rankscore=0.675;MetaSVM_score=-0.580;MetaSVM_rankscore=0.657;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_rankscore=0.617;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.478;REVEL_rankscore=0.772;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.496;CADD_raw_rankscore=0.242;CADD_phred=13.29;DANN_score=0.948;DANN_rankscore=0.250;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.906;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.719;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=9.325;phyloP100way_vertebrate_rankscore=0.960;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.075;SiPhy_29way_logOdds_rankscore=0.807;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0224;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035705;Kaviar_AC=552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.689141;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179417091 rs149567378 C T 100 PASS AC=2;AF=0.0061901;AN=214;NS=2504;DP=25646;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0286;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149567378;CLNALLELEID=56661;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.565;MutationAssessor_score_rankscore=0.397;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.4;PROVEAN_converted_rankscore=0.714;PROVEAN_pred=D;VEST3_score=0.253;VEST3_rankscore=0.427;MetaSVM_score=-0.204;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.431;MetaLR_rankscore=0.773;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.403;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.757;CADD_raw_rankscore=0.508;CADD_phred=23.3;DANN_score=0.928;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.745;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.711;Eigen-PC-raw=0.714;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.324;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0263;AF=0.0011;AF_popmax=0.0019;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0036481;Kaviar_AC=564;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.651739;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179417415 rs146338537 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=23895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G63017A:p.G21006D,TTN:NM_133432:exon164:c.G63392A:p.G21131D,TTN:NM_133437:exon164:c.G63593A:p.G21198D,TTN:NM_133378:exon284:c.G82508A:p.G27503D,TTN:NM_001256850:exon285:c.G85289A:p.G28430D,TTN:NM_001267550:exon335:c.G90212A:p.G30071D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146338537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.703;SIFT_converted_rankscore=0.050;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_rankscore=0.246;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.89;MutationAssessor_score_rankscore=0.014;MutationAssessor_pred=N;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.474;MetaSVM_score=-1.041;MetaSVM_rankscore=0.171;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.262;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.254;M-CAP_pred=T;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.435;CADD_raw_rankscore=0.235;CADD_phred=12.97;DANN_score=0.937;DANN_rankscore=0.229;fathmm-MKL_coding_score=0.125;fathmm-MKL_coding_rankscore=0.171;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.649;Eigen-PC-raw=-0.515;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.91;GERP++_RS_rankscore=0.442;phyloP100way_vertebrate=0.273;phyloP100way_vertebrate_rankscore=0.183;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=4.419;SiPhy_29way_logOdds_rankscore=0.108;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.482e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.316310;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179417633 rs142891278 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=22421;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.G62799A:p.S20933S,TTN:NM_133432:exon164:c.G63174A:p.S21058S,TTN:NM_133437:exon164:c.G63375A:p.S21125S,TTN:NM_133378:exon284:c.G82290A:p.S27430S,TTN:NM_001256850:exon285:c.G85071A:p.S28357S,TTN:NM_001267550:exon335:c.G89994A:p.S29998S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142891278;CLNALLELEID=56658;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037063;Kaviar_AC=573;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.539530;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179418144 rs367790760 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22842;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367790760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.179e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=6.488e-05;AF_male=5.728e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179418306 rs72648238 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22276;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon162:c.G62231A:p.R20744Q,TTN:NM_133432:exon163:c.G62606A:p.R20869Q,TTN:NM_133437:exon163:c.G62807A:p.R20936Q,TTN:NM_133378:exon283:c.G81722A:p.R27241Q,TTN:NM_001256850:exon284:c.G84503A:p.R28168Q,TTN:NM_001267550:exon334:c.G89426A:p.R29809Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648238;CLNALLELEID=56653;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.443;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.876;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=2.385;MutationAssessor_score_rankscore=0.689;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-0.81;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.084;MetaSVM_score=-0.752;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.190;MetaLR_rankscore=0.541;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.647;M-CAP_pred=D;REVEL_score=0.183;REVEL_rankscore=0.461;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.208;CADD_raw_rankscore=0.445;CADD_phred=22.7;DANN_score=0.766;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.739;fathmm-MKL_coding_rankscore=0.359;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.198;Eigen-PC-raw=-0.124;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.443;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.156;GERP++_RS_rankscore=0.141;phyloP100way_vertebrate=1.825;phyloP100way_vertebrate_rankscore=0.385;phyloP20way_mammalian=-0.170;phyloP20way_mammalian_rankscore=0.106;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=10.889;SiPhy_29way_logOdds_rankscore=0.460;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0005304;Kaviar_AC=82;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.550306;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179419342 rs539906386 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon160:c.C61537T:p.R20513C,TTN:NM_133432:exon161:c.C61912T:p.R20638C,TTN:NM_133437:exon161:c.C62113T:p.R20705C,TTN:NM_133378:exon281:c.C81028T:p.R27010C,TTN:NM_001256850:exon282:c.C83809T:p.R27937C,TTN:NM_001267550:exon332:c.C88732T:p.R29578C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539906386;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-5.6;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.416;VEST3_rankscore=0.557;MetaSVM_score=-0.010;MetaSVM_rankscore=0.821;MetaSVM_pred=T;MetaLR_score=0.433;MetaLR_rankscore=0.774;MetaLR_pred=T;M-CAP_score=0.057;M-CAP_rankscore=0.669;M-CAP_pred=D;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=0.576;MutPred_rankscore=0.701;CADD_raw=4.209;CADD_raw_rankscore=0.564;CADD_phred=23.9;DANN_score=0.959;DANN_rankscore=0.275;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.628;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.912;Eigen-PC-raw=0.852;GenoCanyon_score=0.973;GenoCanyon_score_rankscore=0.294;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=3.218;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.836;phastCons20way_mammalian_rankscore=0.349;SiPhy_29way_logOdds=14.892;SiPhy_29way_logOdds_rankscore=0.701;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.478e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.504981;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179419792 rs146181116 G A 100 PASS AC=3;AF=0.00179712;AN=214;NS=2504;DP=16369;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon159:c.C61199T:p.S20400F,TTN:NM_133432:exon160:c.C61574T:p.S20525F,TTN:NM_133437:exon160:c.C61775T:p.S20592F,TTN:NM_133378:exon280:c.C80690T:p.S26897F,TTN:NM_001256850:exon281:c.C83471T:p.S27824F,TTN:NM_001267550:exon331:c.C88394T:p.S29465F;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146181116;CLNALLELEID=56641;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.552;SIFT_converted_rankscore=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.739;Polyphen2_HVAR_rankscore=0.538;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.465;MutationTaster_pred=D;MutationAssessor_score=1.805;MutationAssessor_score_rankscore=0.477;MutationAssessor_pred=L;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-3.68;PROVEAN_converted_rankscore=0.732;PROVEAN_pred=D;VEST3_score=0.389;VEST3_rankscore=0.460;MetaSVM_score=-0.359;MetaSVM_rankscore=0.733;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_rankscore=0.675;MetaLR_pred=T;M-CAP_score=0.042;M-CAP_rankscore=0.606;M-CAP_pred=D;REVEL_score=0.331;REVEL_rankscore=0.657;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.106;CADD_raw_rankscore=0.433;CADD_phred=22.5;DANN_score=0.984;DANN_rankscore=0.405;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.549;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.625;Eigen-PC-raw=0.647;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.448;integrated_fitCons_score=0.523;integrated_fitCons_score_rankscore=0.210;integrated_confidence_value=0;GERP++_RS=5.66;GERP++_RS_rankscore=0.872;phyloP100way_vertebrate=2.179;phyloP100way_vertebrate_rankscore=0.419;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.104;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0025;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0048;AF_popmax=0.0076;AF_male=0.0045;AF_female=0.0052;AF_raw=0.0049;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0076;AF_fin=0.0055;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0079;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0028201;Kaviar_AC=436;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.072213;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179421609 rs9808036 C T 100 PASS AC=10;AF=0.0842652;AN=214;NS=2504;DP=22559;EAS_AF=0.0248;AMR_AF=0.1527;AFR_AF=0.0378;EUR_AF=0.0477;SAS_AF=0.1973;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.G61077A:p.E20359E,TTN:NM_133432:exon159:c.G61452A:p.E20484E,TTN:NM_133437:exon159:c.G61653A:p.E20551E,TTN:NM_133378:exon279:c.G80568A:p.E26856E,TTN:NM_001256850:exon280:c.G83349A:p.E27783E,TTN:NM_001267550:exon330:c.G88272A:p.E29424E;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9808036;CLNALLELEID=56640;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0291;ExAC_nontcga_ALL=0.0747;ExAC_nontcga_AFR=0.0358;ExAC_nontcga_AMR=0.1962;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0328;ExAC_nontcga_OTH=0.0773;ExAC_nontcga_SAS=0.1806;AF=0.0374;AF_popmax=0.1663;AF_male=0.0370;AF_female=0.0378;AF_raw=0.0374;AF_afr=0.0335;AF_sas=.;AF_amr=0.1663;AF_eas=0.0290;AF_nfe=0.0291;AF_fin=0.0532;AF_asj=0.0276;AF_oth=0.0487;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1679;non_cancer_AF_popmax=.;controls_AF_popmax=0.1626;Kaviar_AF=0.066364;Kaviar_AC=10260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.675892;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179421694 rs9808377 A G 100 PASS AC=56;AF=0.507188;AN=214;NS=2504;DP=20211;EAS_AF=0.7153;AMR_AF=0.4049;AFR_AF=0.5666;EUR_AF=0.2495;SAS_AF=0.5501;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.T60992C:p.I20331T,TTN:NM_133432:exon159:c.T61367C:p.I20456T,TTN:NM_133437:exon159:c.T61568C:p.I20523T,TTN:NM_133378:exon279:c.T80483C:p.I26828T,TTN:NM_001256850:exon280:c.T83264C:p.I27755T,TTN:NM_001267550:exon330:c.T88187C:p.I29396T;1000g2015aug_all=0.507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9808377;CLNALLELEID=56639;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=-2.57;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=2.95;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.015;VEST3_rankscore=0.052;MetaSVM_score=-0.881;MetaSVM_rankscore=0.497;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.530;CADD_raw_rankscore=0.054;CADD_phred=0.186;DANN_score=0.536;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.062;fathmm-MKL_coding_rankscore=0.121;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.590;Eigen-PC-raw=-1.483;GenoCanyon_score=0.131;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-2.9;GERP++_RS_rankscore=0.053;phyloP100way_vertebrate=0.721;phyloP100way_vertebrate_rankscore=0.254;phyloP20way_mammalian=-1.254;phyloP20way_mammalian_rankscore=0.015;phastCons100way_vertebrate=0.187;phastCons100way_vertebrate_rankscore=0.239;phastCons20way_mammalian=0.062;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=12.559;SiPhy_29way_logOdds_rankscore=0.554;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2206;ExAC_nontcga_ALL=0.3601;ExAC_nontcga_AFR=0.5459;ExAC_nontcga_AMR=0.4287;ExAC_nontcga_EAS=0.6974;ExAC_nontcga_FIN=0.2765;ExAC_nontcga_NFE=0.2312;ExAC_nontcga_OTH=0.3362;ExAC_nontcga_SAS=0.5202;AF=0.3491;AF_popmax=0.6913;AF_male=0.3553;AF_female=0.3413;AF_raw=0.3496;AF_afr=0.5402;AF_sas=.;AF_amr=0.4078;AF_eas=0.6913;AF_nfe=0.2273;AF_fin=0.2690;AF_asj=0.2345;AF_oth=0.3007;non_topmed_AF_popmax=0.6908;non_neuro_AF_popmax=0.6913;non_cancer_AF_popmax=.;controls_AF_popmax=0.6747;Kaviar_AF=0.33788;Kaviar_AC=52237;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.436715;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179422073 rs551887772 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20345;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon157:c.C60721T:p.L20241F,TTN:NM_133432:exon158:c.C61096T:p.L20366F,TTN:NM_133437:exon158:c.C61297T:p.L20433F,TTN:NM_133378:exon278:c.C80212T:p.L26738F,TTN:NM_001256850:exon279:c.C82993T:p.L27665F,TTN:NM_001267550:exon329:c.C87916T:p.L29306F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551887772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.019;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.488;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_score_rankscore=0.603;MutationAssessor_pred=M;FATHMM_score=0.41;FATHMM_converted_rankscore=0.571;FATHMM_pred=T;PROVEAN_score=-2.93;PROVEAN_converted_rankscore=0.646;PROVEAN_pred=D;VEST3_score=0.234;VEST3_rankscore=0.378;MetaSVM_score=-0.384;MetaSVM_rankscore=0.726;MetaSVM_pred=T;MetaLR_score=0.321;MetaLR_rankscore=0.690;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.471;M-CAP_pred=T;REVEL_score=0.363;REVEL_rankscore=0.687;MutPred_score=0.598;MutPred_rankscore=0.729;CADD_raw=2.379;CADD_raw_rankscore=0.347;CADD_phred=18.69;DANN_score=0.982;DANN_rankscore=0.386;fathmm-MKL_coding_score=0.905;fathmm-MKL_coding_rankscore=0.515;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.717;Eigen-PC-raw=0.683;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.332;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.9;GERP++_RS_rankscore=0.635;phyloP100way_vertebrate=4.982;phyloP100way_vertebrate_rankscore=0.633;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.249;SiPhy_29way_logOdds_rankscore=0.481;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.873272;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422181 rs141624266 C T 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=19400;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon157:c.G60613A:p.V20205I,TTN:NM_133432:exon158:c.G60988A:p.V20330I,TTN:NM_133437:exon158:c.G61189A:p.V20397I,TTN:NM_133378:exon278:c.G80104A:p.V26702I,TTN:NM_001256850:exon279:c.G82885A:p.V27629I,TTN:NM_001267550:exon329:c.G87808A:p.V29270I;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141624266;CLNALLELEID=56633;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=-1.725;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=0.16;PROVEAN_converted_rankscore=0.060;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.022;MetaSVM_score=-1.033;MetaSVM_rankscore=0.196;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.149;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.139;CADD_raw_rankscore=0.318;CADD_phred=17.11;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.392;fathmm-MKL_coding_rankscore=0.259;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.829;Eigen-PC-raw=-0.620;GenoCanyon_score=0.650;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.411;GERP++_RS_rankscore=0.155;phyloP100way_vertebrate=0.532;phyloP100way_vertebrate_rankscore=0.226;phyloP20way_mammalian=0.149;phyloP20way_mammalian_rankscore=0.237;phastCons100way_vertebrate=0.886;phastCons100way_vertebrate_rankscore=0.309;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=5.395;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0256;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0053;AF=0.0051;AF_popmax=0.0040;AF_male=0.0044;AF_female=0.0061;AF_raw=0.0051;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0242;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.464763;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422286 rs201770959 C A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18741;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201770959;CLNALLELEID=102206;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.044;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0016;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0013;AF_raw=0.0016;AF_afr=0.0004;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0023;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001837;Kaviar_AC=284;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.739189;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179422669 rs72648227 G T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=20971;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon156:c.C60217A:p.P20073T,TTN:NM_133432:exon157:c.C60592A:p.P20198T,TTN:NM_133437:exon157:c.C60793A:p.P20265T,TTN:NM_133378:exon277:c.C79708A:p.P26570T,TTN:NM_001256850:exon278:c.C82489A:p.P27497T,TTN:NM_001267550:exon328:c.C87412A:p.P29138T;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648227;CLNALLELEID=56628;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.006;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.82;MutationAssessor_score_rankscore=0.957;MutationAssessor_pred=H;FATHMM_score=-2.12;FATHMM_converted_rankscore=0.863;FATHMM_pred=D;PROVEAN_score=-5.87;PROVEAN_converted_rankscore=0.942;PROVEAN_pred=D;VEST3_score=0.298;VEST3_rankscore=0.451;MetaSVM_score=0.956;MetaSVM_rankscore=0.965;MetaSVM_pred=D;MetaLR_score=0.872;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.183;M-CAP_rankscore=0.857;M-CAP_pred=D;REVEL_score=0.724;REVEL_rankscore=0.904;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.974;CADD_raw_rankscore=0.298;CADD_phred=16.05;DANN_score=0.901;DANN_rankscore=0.188;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.605;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.064;Eigen-PC-raw=0.982;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.63;GERP++_RS_rankscore=0.861;phyloP100way_vertebrate=8.133;phyloP100way_vertebrate_rankscore=0.894;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.040;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0030;AF=0.0007;AF_popmax=0.0007;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010026;Kaviar_AC=155;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.344853;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179422834 rs139099170 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20328;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon156:c.G60052T:p.V20018F,TTN:NM_133432:exon157:c.G60427T:p.V20143F,TTN:NM_133437:exon157:c.G60628T:p.V20210F,TTN:NM_133378:exon277:c.G79543T:p.V26515F,TTN:NM_001256850:exon278:c.G82324T:p.V27442F,TTN:NM_001267550:exon328:c.G87247T:p.V29083F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139099170;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.05;SIFT_converted_rankscore=0.395;SIFT_pred=D;Polyphen2_HDIV_score=0.171;Polyphen2_HDIV_rankscore=0.337;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.095;Polyphen2_HVAR_rankscore=0.375;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.17;MutationAssessor_score_rankscore=0.299;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-2.66;PROVEAN_converted_rankscore=0.595;PROVEAN_pred=D;VEST3_score=0.355;VEST3_rankscore=0.478;MetaSVM_score=-0.840;MetaSVM_rankscore=0.527;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.555;MetaLR_pred=T;M-CAP_score=0.066;M-CAP_rankscore=0.698;M-CAP_pred=D;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.943;CADD_raw_rankscore=0.294;CADD_phred=15.85;DANN_score=0.884;DANN_rankscore=0.174;fathmm-MKL_coding_score=0.098;fathmm-MKL_coding_rankscore=0.153;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.318;Eigen-PC-raw=-0.239;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=3.73;GERP++_RS_rankscore=0.418;phyloP100way_vertebrate=-0.005;phyloP100way_vertebrate_rankscore=0.127;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.040;phastCons100way_vertebrate_rankscore=0.208;phastCons20way_mammalian=0.865;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=7.288;SiPhy_29way_logOdds_rankscore=0.254;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.488e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.338187;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179423099 rs12621078 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=20206;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.T59892C:p.L19964L,TTN:NM_133432:exon156:c.T60267C:p.L20089L,TTN:NM_133437:exon156:c.T60468C:p.L20156L,TTN:NM_133378:exon276:c.T79383C:p.L26461L,TTN:NM_001256850:exon277:c.T82164C:p.L27388L,TTN:NM_001267550:exon327:c.T87087C:p.L29029L;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12621078;CLNALLELEID=56624;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0272;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0359;ExAC_nontcga_EAS=0.0696;ExAC_nontcga_FIN=0.0526;ExAC_nontcga_NFE=0.0264;ExAC_nontcga_OTH=0.0280;ExAC_nontcga_SAS=0.0070;AF=0.0235;AF_popmax=0.0552;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0236;AF_afr=0.0048;AF_sas=.;AF_amr=0.0224;AF_eas=0.0552;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0559;non_neuro_AF_popmax=0.0552;non_cancer_AF_popmax=.;controls_AF_popmax=0.0480;Kaviar_AF=0.0252713;Kaviar_AC=3907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386890;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179423168 rs535863592 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18625;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon155:c.A59823G:p.R19941R,TTN:NM_133432:exon156:c.A60198G:p.R20066R,TTN:NM_133437:exon156:c.A60399G:p.R20133R,TTN:NM_133378:exon276:c.A79314G:p.R26438R,TTN:NM_001256850:exon277:c.A82095G:p.R27365R,TTN:NM_001267550:exon327:c.A87018G:p.R29006R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535863592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.558322;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424048 rs55972010 T C 100 PASS AC=9;AF=0.0161741;AN=214;NS=2504;DP=18743;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0015;EUR_AF=0.0368;SAS_AF=0.0286;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A59616G:p.V19872V,TTN:NM_133432:exon155:c.A59991G:p.V19997V,TTN:NM_133437:exon155:c.A60192G:p.V20064V,TTN:NM_133378:exon275:c.A79107G:p.V26369V,TTN:NM_001256850:exon276:c.A81888G:p.V27296V,TTN:NM_001267550:exon326:c.A86811G:p.V28937V;1000g2015aug_all=0.0161741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55972010;CLNALLELEID=56621;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0324;ExAC_nontcga_ALL=0.0238;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0263;ExAC_nontcga_NFE=0.0312;ExAC_nontcga_OTH=0.0157;ExAC_nontcga_SAS=0.0335;AF=0.0222;AF_popmax=0.0341;AF_male=0.0216;AF_female=0.0230;AF_raw=0.0222;AF_afr=0.0040;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0341;AF_fin=0.0265;AF_asj=0.0069;AF_oth=0.0304;non_topmed_AF_popmax=0.0366;non_neuro_AF_popmax=0.0339;non_cancer_AF_popmax=.;controls_AF_popmax=0.0395;Kaviar_AF=0.0231562;Kaviar_AC=3580;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.373604;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +2 179424558 rs56310931 C T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=21153;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G59106A:p.K19702K,TTN:NM_133432:exon155:c.G59481A:p.K19827K,TTN:NM_133437:exon155:c.G59682A:p.K19894K,TTN:NM_133378:exon275:c.G78597A:p.K26199K,TTN:NM_001256850:exon276:c.G81378A:p.K27126K,TTN:NM_001267550:exon326:c.G86301A:p.K28767K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56310931;CLNALLELEID=56616;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0043;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0169;ExAC_nontcga_NFE=0.0112;ExAC_nontcga_OTH=0.0133;ExAC_nontcga_SAS=0.0064;AF=0.0085;AF_popmax=0.0103;AF_male=0.0084;AF_female=0.0085;AF_raw=0.0085;AF_afr=0.0017;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0199;AF_asj=0.0276;AF_oth=0.0092;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0086351;Kaviar_AC=1335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.078554;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424734 rs562860372 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21373;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G58930A:p.E19644K,TTN:NM_133432:exon155:c.G59305A:p.E19769K,TTN:NM_133437:exon155:c.G59506A:p.E19836K,TTN:NM_133378:exon275:c.G78421A:p.E26141K,TTN:NM_001256850:exon276:c.G81202A:p.E27068K,TTN:NM_001267550:exon326:c.G86125A:p.E28709K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562860372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.019;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_score_rankscore=0.274;MutationAssessor_pred=L;FATHMM_score=0.39;FATHMM_converted_rankscore=0.574;FATHMM_pred=T;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.618;PROVEAN_pred=D;VEST3_score=0.463;VEST3_rankscore=0.632;MetaSVM_score=-0.542;MetaSVM_rankscore=0.671;MetaSVM_pred=T;MetaLR_score=0.303;MetaLR_rankscore=0.674;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.153;M-CAP_pred=T;REVEL_score=0.392;REVEL_rankscore=0.711;MutPred_score=0.548;MutPred_rankscore=0.663;CADD_raw=4.062;CADD_raw_rankscore=0.545;CADD_phred=23.7;DANN_score=0.956;DANN_rankscore=0.268;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.866;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.809;Eigen-PC-raw=0.837;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=6.125;phyloP100way_vertebrate_rankscore=0.712;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.583;SiPhy_29way_logOdds_rankscore=0.994;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.505e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.252257;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179424834 rs369528150 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19452;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G58830A:p.P19610P,TTN:NM_133432:exon155:c.G59205A:p.P19735P,TTN:NM_133437:exon155:c.G59406A:p.P19802P,TTN:NM_133378:exon275:c.G78321A:p.P26107P,TTN:NM_001256850:exon276:c.G81102A:p.P27034P,TTN:NM_001267550:exon326:c.G86025A:p.P28675P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369528150;CLNALLELEID=178112;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.556e-05;AF_popmax=0.0012;AF_male=5.724e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.728468;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179425470 rs144731702 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22278;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C58194T:p.L19398L,TTN:NM_133432:exon155:c.C58569T:p.L19523L,TTN:NM_133437:exon155:c.C58770T:p.L19590L,TTN:NM_133378:exon275:c.C77685T:p.L25895L,TTN:NM_001256850:exon276:c.C80466T:p.L26822L,TTN:NM_001267550:exon326:c.C85389T:p.L28463L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144731702;CLNALLELEID=499158;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.156711;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179425988 rs192152102 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23229;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C57676T:p.R19226C,TTN:NM_133432:exon155:c.C58051T:p.R19351C,TTN:NM_133437:exon155:c.C58252T:p.R19418C,TTN:NM_133378:exon275:c.C77167T:p.R25723C,TTN:NM_001256850:exon276:c.C79948T:p.R26650C,TTN:NM_001267550:exon326:c.C84871T:p.R28291C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192152102;CLNALLELEID=189493;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.938;Polyphen2_HVAR_rankscore=0.656;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.16;MutationAssessor_score_rankscore=0.606;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-5.81;PROVEAN_converted_rankscore=0.899;PROVEAN_pred=D;VEST3_score=0.393;VEST3_rankscore=0.572;MetaSVM_score=-0.430;MetaSVM_rankscore=0.711;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_rankscore=0.677;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.547;M-CAP_pred=D;REVEL_score=0.344;REVEL_rankscore=0.670;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.592;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.878;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.644;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.640;Eigen-PC-raw=0.600;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.305;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=4.766;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.851;SiPhy_29way_logOdds_rankscore=0.400;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0009;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0012;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0.0026;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.935487;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426219 rs72648221 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=24922;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A57445G:p.M19149V,TTN:NM_133432:exon155:c.A57820G:p.M19274V,TTN:NM_133437:exon155:c.A58021G:p.M19341V,TTN:NM_133378:exon275:c.A76936G:p.M25646V,TTN:NM_001256850:exon276:c.A79717G:p.M26573V,TTN:NM_001267550:exon326:c.A84640G:p.M28214V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648221;CLNALLELEID=391800;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.284;SIFT_converted_rankscore=0.153;SIFT_pred=T;Polyphen2_HDIV_score=0.065;Polyphen2_HDIV_rankscore=0.220;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.723;MutationTaster_converted_rankscore=0.304;MutationTaster_pred=N;MutationAssessor_score=-0.415;MutationAssessor_score_rankscore=0.029;MutationAssessor_pred=N;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.374;VEST3_rankscore=0.519;MetaSVM_score=-1.011;MetaSVM_rankscore=0.265;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_rankscore=0.272;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.272;M-CAP_pred=T;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.707;CADD_raw_rankscore=0.161;CADD_phred=8.873;DANN_score=0.803;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_rankscore=0.524;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.258;Eigen-PC-raw=-0.022;GenoCanyon_score=0.121;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.84;GERP++_RS_rankscore=0.620;phyloP100way_vertebrate=4.199;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.308;SiPhy_29way_logOdds_rankscore=0.540;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0005;AF_female=0;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.338412;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426596 rs200450022 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=24044;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G57068A:p.S19023N,TTN:NM_133432:exon155:c.G57443A:p.S19148N,TTN:NM_133437:exon155:c.G57644A:p.S19215N,TTN:NM_133378:exon275:c.G76559A:p.S25520N,TTN:NM_001256850:exon276:c.G79340A:p.S26447N,TTN:NM_001267550:exon326:c.G84263A:p.S28088N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200450022;CLNALLELEID=56596;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.138;SIFT_converted_rankscore=0.258;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.484;MutationTaster_pred=D;MutationAssessor_score=0.675;MutationAssessor_score_rankscore=0.164;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_converted_rankscore=0.576;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_converted_rankscore=0.404;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.203;MetaSVM_score=-0.962;MetaSVM_rankscore=0.388;MetaSVM_pred=T;MetaLR_score=0.136;MetaLR_rankscore=0.452;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.249;M-CAP_pred=T;REVEL_score=0.057;REVEL_rankscore=0.167;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.154;CADD_raw_rankscore=0.320;CADD_phred=17.21;DANN_score=0.800;DANN_rankscore=0.126;fathmm-MKL_coding_score=0.851;fathmm-MKL_coding_rankscore=0.439;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.047;Eigen-PC-raw=0.148;GenoCanyon_score=0.982;GenoCanyon_score_rankscore=0.303;integrated_fitCons_score=0.578;integrated_fitCons_score_rankscore=0.323;integrated_confidence_value=0;GERP++_RS=5.28;GERP++_RS_rankscore=0.740;phyloP100way_vertebrate=3.735;phyloP100way_vertebrate_rankscore=0.545;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.954;SiPhy_29way_logOdds_rankscore=0.796;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006339;Kaviar_AC=98;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.466657;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179426682 rs141559873 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=24185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56982G:p.P18994P,TTN:NM_133432:exon155:c.A57357G:p.P19119P,TTN:NM_133437:exon155:c.A57558G:p.P19186P,TTN:NM_133378:exon275:c.A76473G:p.P25491P,TTN:NM_001256850:exon276:c.A79254G:p.P26418P,TTN:NM_001267550:exon326:c.A84177G:p.P28059P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141559873;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.565e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.480377;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179427186 rs2366751 A G 100 PASS AC=57;AF=0.508786;AN=214;NS=2504;DP=21523;EAS_AF=0.7153;AMR_AF=0.4078;AFR_AF=0.5673;EUR_AF=0.2535;SAS_AF=0.5511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T56478C:p.G18826G,TTN:NM_133432:exon155:c.T56853C:p.G18951G,TTN:NM_133437:exon155:c.T57054C:p.G19018G,TTN:NM_133378:exon275:c.T75969C:p.G25323G,TTN:NM_001256850:exon276:c.T78750C:p.G26250G,TTN:NM_001267550:exon326:c.T83673C:p.G27891G;1000g2015aug_all=0.508786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2366751;CLNALLELEID=56593;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2228;ExAC_nontcga_ALL=0.3608;ExAC_nontcga_AFR=0.5462;ExAC_nontcga_AMR=0.4299;ExAC_nontcga_EAS=0.6947;ExAC_nontcga_FIN=0.2763;ExAC_nontcga_NFE=0.2325;ExAC_nontcga_OTH=0.3372;ExAC_nontcga_SAS=0.5204;AF=0.3500;AF_popmax=0.6920;AF_male=0.3564;AF_female=0.3420;AF_raw=0.3504;AF_afr=0.5400;AF_sas=.;AF_amr=0.4104;AF_eas=0.6920;AF_nfe=0.2291;AF_fin=0.2693;AF_asj=0.2345;AF_oth=0.3029;non_topmed_AF_popmax=0.6915;non_neuro_AF_popmax=0.6920;non_cancer_AF_popmax=.;controls_AF_popmax=0.6788;Kaviar_AF=0.337078;Kaviar_AC=52113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.378453;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179427536 rs3829746 T C 100 PASS AC=57;AF=0.508387;AN=214;NS=2504;DP=21726;EAS_AF=0.7153;AMR_AF=0.4078;AFR_AF=0.5658;EUR_AF=0.2535;SAS_AF=0.5511;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56128G:p.I18710V,TTN:NM_133432:exon155:c.A56503G:p.I18835V,TTN:NM_133437:exon155:c.A56704G:p.I18902V,TTN:NM_133378:exon275:c.A75619G:p.I25207V,TTN:NM_001256850:exon276:c.A78400G:p.I26134V,TTN:NM_001267550:exon326:c.A83323G:p.I27775V;1000g2015aug_all=0.508387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829746;CLNALLELEID=56589;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.971;MutationTaster_converted_rankscore=0.256;MutationTaster_pred=P;MutationAssessor_score=-0.54;MutationAssessor_score_rankscore=0.025;MutationAssessor_pred=N;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=0.4;PROVEAN_converted_rankscore=0.035;PROVEAN_pred=N;VEST3_score=0.024;VEST3_rankscore=0.013;MetaSVM_score=-0.971;MetaSVM_rankscore=0.370;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.117;REVEL_rankscore=0.332;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.936;CADD_raw_rankscore=0.183;CADD_phred=10.29;DANN_score=0.862;DANN_rankscore=0.159;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_rankscore=0.077;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.692;Eigen-PC-raw=-0.479;GenoCanyon_score=0.095;GenoCanyon_score_rankscore=0.162;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.15;GERP++_RS_rankscore=0.702;phyloP100way_vertebrate=0.477;phyloP100way_vertebrate_rankscore=0.217;phyloP20way_mammalian=-0.302;phyloP20way_mammalian_rankscore=0.080;phastCons100way_vertebrate=0.093;phastCons100way_vertebrate_rankscore=0.224;phastCons20way_mammalian=0.908;phastCons20way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=9.630;SiPhy_29way_logOdds_rankscore=0.387;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2229;ExAC_nontcga_ALL=0.3631;ExAC_nontcga_AFR=0.5502;ExAC_nontcga_AMR=0.4328;ExAC_nontcga_EAS=0.6984;ExAC_nontcga_FIN=0.2760;ExAC_nontcga_NFE=0.2347;ExAC_nontcga_OTH=0.3443;ExAC_nontcga_SAS=0.5210;AF=0.3499;AF_popmax=0.6931;AF_male=0.3564;AF_female=0.3418;AF_raw=0.3504;AF_afr=0.5394;AF_sas=.;AF_amr=0.4104;AF_eas=0.6931;AF_nfe=0.2291;AF_fin=0.2691;AF_asj=0.2345;AF_oth=0.3026;non_topmed_AF_popmax=0.6927;non_neuro_AF_popmax=0.6931;non_cancer_AF_popmax=.;controls_AF_popmax=0.68;Kaviar_AF=0.337777;Kaviar_AC=52221;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.753193;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179428119 rs56345408 C T 100 PASS AC=4;AF=0.00778754;AN=214;NS=2504;DP=21754;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0266;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G55545A:p.T18515T,TTN:NM_133432:exon155:c.G55920A:p.T18640T,TTN:NM_133437:exon155:c.G56121A:p.T18707T,TTN:NM_133378:exon275:c.G75036A:p.T25012T,TTN:NM_001256850:exon276:c.G77817A:p.T25939T,TTN:NM_001267550:exon326:c.G82740A:p.T27580T;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56345408;CLNALLELEID=56582;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0171;ExAC_nontcga_NFE=0.0077;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0227;AF=0.0072;AF_popmax=0.0098;AF_male=0.0065;AF_female=0.0082;AF_raw=0.0073;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0150;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0081629;Kaviar_AC=1262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.961404;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179428299 rs56264840 G T 100 PASS AC=2;AF=0.00579073;AN=214;NS=2504;DP=23055;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56264840;CLNALLELEID=56579;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.503;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-4.57;PROVEAN_converted_rankscore=0.796;PROVEAN_pred=D;VEST3_score=0.178;VEST3_rankscore=0.238;MetaSVM_score=-0.467;MetaSVM_rankscore=0.698;MetaSVM_pred=T;MetaLR_score=0.323;MetaLR_rankscore=0.692;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.417;REVEL_rankscore=0.730;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.633;CADD_raw_rankscore=0.258;CADD_phred=14.03;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.448;Eigen-PC-raw=0.379;GenoCanyon_score=0.009;GenoCanyon_score_rankscore=0.118;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.79;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=3.299;phyloP100way_vertebrate_rankscore=0.513;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.167;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0045;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0224;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.365337;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429004 rs56214710 G A 100 PASS AC=3;AF=0.0221645;AN=214;NS=2504;DP=21282;EAS_AF=0.0585;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C54660T:p.I18220I,TTN:NM_133432:exon155:c.C55035T:p.I18345I,TTN:NM_133437:exon155:c.C55236T:p.I18412I,TTN:NM_133378:exon275:c.C74151T:p.I24717I,TTN:NM_001256850:exon276:c.C76932T:p.I25644I,TTN:NM_001267550:exon326:c.C81855T:p.I27285I;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56214710;CLNALLELEID=56567;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0264;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0639;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0256;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0232;AF_popmax=0.0516;AF_male=0.0228;AF_female=0.0238;AF_raw=0.0232;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0516;AF_nfe=0.0238;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0304;non_topmed_AF_popmax=0.0522;non_neuro_AF_popmax=0.0516;non_cancer_AF_popmax=.;controls_AF_popmax=0.0450;Kaviar_AF=0.0243399;Kaviar_AC=3763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.521228;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429301 rs56181243 A G 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=21976;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54363C:p.N18121N,TTN:NM_133432:exon155:c.T54738C:p.N18246N,TTN:NM_133437:exon155:c.T54939C:p.N18313N,TTN:NM_133378:exon275:c.T73854C:p.N24618N,TTN:NM_001256850:exon276:c.T76635C:p.N25545N,TTN:NM_001267550:exon326:c.T81558C:p.N27186N;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56181243;CLNALLELEID=56564;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0103;ExAC_nontcga_SAS=0.0043;AF=0.0055;AF_popmax=0.0047;AF_male=0.0061;AF_female=0.0047;AF_raw=0.0055;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0242;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0039;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.005194;Kaviar_AC=803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.694037;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179429612 rs186273940 A G 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=21196;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54052C:p.S18018P,TTN:NM_133432:exon155:c.T54427C:p.S18143P,TTN:NM_133437:exon155:c.T54628C:p.S18210P,TTN:NM_133378:exon275:c.T73543C:p.S24515P,TTN:NM_001256850:exon276:c.T76324C:p.S25442P,TTN:NM_001267550:exon326:c.T81247C:p.S27083P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186273940;CLNALLELEID=102201;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.041;SIFT_converted_rankscore=0.419;SIFT_pred=D;Polyphen2_HDIV_score=0.784;Polyphen2_HDIV_rankscore=0.424;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.575;Polyphen2_HVAR_rankscore=0.482;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.285;MutationAssessor_score_rankscore=0.654;MutationAssessor_pred=M;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_converted_rankscore=0.686;PROVEAN_pred=D;VEST3_score=0.473;VEST3_rankscore=0.576;MetaSVM_score=-0.811;MetaSVM_rankscore=0.545;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.511;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.512;M-CAP_pred=D;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.929;CADD_raw_rankscore=0.293;CADD_phred=15.76;DANN_score=0.892;DANN_rankscore=0.180;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.533;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.269;Eigen-PC-raw=0.312;GenoCanyon_score=0.036;GenoCanyon_score_rankscore=0.143;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.85;GERP++_RS_rankscore=0.622;phyloP100way_vertebrate=1.437;phyloP100way_vertebrate_rankscore=0.344;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=4.083;SiPhy_29way_logOdds_rankscore=0.093;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.112428;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430060 rs3813247 G T 100 PASS AC=3;AF=0.0221645;AN=214;NS=2504;DP=21529;EAS_AF=0.0595;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C53604A:p.T17868T,TTN:NM_133432:exon155:c.C53979A:p.T17993T,TTN:NM_133437:exon155:c.C54180A:p.T18060T,TTN:NM_133378:exon275:c.C73095A:p.T24365T,TTN:NM_001256850:exon276:c.C75876A:p.T25292T,TTN:NM_001267550:exon326:c.C80799A:p.T26933T;1000g2015aug_all=0.0221645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813247;CLNALLELEID=56557;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.0654;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0557;AF_male=0.0231;AF_female=0.0239;AF_raw=0.0234;AF_afr=0.0047;AF_sas=.;AF_amr=0.0212;AF_eas=0.0557;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0564;non_neuro_AF_popmax=0.0557;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0251484;Kaviar_AC=3888;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.002088;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430105 rs556581025 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G53559A:p.E17853E,TTN:NM_133432:exon155:c.G53934A:p.E17978E,TTN:NM_133437:exon155:c.G54135A:p.E18045E,TTN:NM_133378:exon275:c.G73050A:p.E24350E,TTN:NM_001256850:exon276:c.G75831A:p.E25277E,TTN:NM_001267550:exon326:c.G80754A:p.E26918E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556581025;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.483e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.614760;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +2 179430137 rs573877174 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21845;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A53527C:p.R17843R,TTN:NM_133432:exon155:c.A53902C:p.R17968R,TTN:NM_133437:exon155:c.A54103C:p.R18035R,TTN:NM_133378:exon275:c.A73018C:p.R24340R,TTN:NM_001256850:exon276:c.A75799C:p.R25267R,TTN:NM_001267550:exon326:c.A80722C:p.R26908R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573877174;CLNALLELEID=141511;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0024;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.233752;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179430997 rs3731746 G A 100 PASS AC=41;AF=0.342252;AN=214;NS=2504;DP=22404;EAS_AF=0.629;AMR_AF=0.2061;AFR_AF=0.3442;EUR_AF=0.171;SAS_AF=0.317;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C52667T:p.T17556M,TTN:NM_133432:exon155:c.C53042T:p.T17681M,TTN:NM_133437:exon155:c.C53243T:p.T17748M,TTN:NM_133378:exon275:c.C72158T:p.T24053M,TTN:NM_001256850:exon276:c.C74939T:p.T24980M,TTN:NM_001267550:exon326:c.C79862T:p.T26621M;1000g2015aug_all=0.342252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731746;CLNALLELEID=56547;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.914;Polyphen2_HDIV_rankscore=0.485;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.636;Polyphen2_HVAR_rankscore=0.501;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.014;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_score_rankscore=0.631;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-3.2;PROVEAN_converted_rankscore=0.685;PROVEAN_pred=D;VEST3_score=0.272;VEST3_rankscore=0.345;MetaSVM_score=-0.884;MetaSVM_rankscore=0.495;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.294;CADD_raw_rankscore=0.337;CADD_phred=18.13;DANN_score=0.867;DANN_rankscore=0.162;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.508;GenoCanyon_score=0.160;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.03;GERP++_RS_rankscore=0.669;phyloP100way_vertebrate=3.022;phyloP100way_vertebrate_rankscore=0.491;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.940;phastCons20way_mammalian_rankscore=0.414;SiPhy_29way_logOdds=11.788;SiPhy_29way_logOdds_rankscore=0.511;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1669;ExAC_nontcga_ALL=0.2386;ExAC_nontcga_AFR=0.3368;ExAC_nontcga_AMR=0.1871;ExAC_nontcga_EAS=0.6047;ExAC_nontcga_FIN=0.1652;ExAC_nontcga_NFE=0.1697;ExAC_nontcga_OTH=0.2232;ExAC_nontcga_SAS=0.3077;AF=0.2403;AF_popmax=0.6091;AF_male=0.2453;AF_female=0.2340;AF_raw=0.2405;AF_afr=0.3360;AF_sas=.;AF_amr=0.2116;AF_eas=0.6091;AF_nfe=0.1717;AF_fin=0.1630;AF_asj=0.1655;AF_oth=0.2118;non_topmed_AF_popmax=0.6079;non_neuro_AF_popmax=0.6091;non_cancer_AF_popmax=.;controls_AF_popmax=0.6020;Kaviar_AF=0.223128;Kaviar_AC=34496;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.147702;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179431076 rs56307213 C G 100 PASS AC=8;AF=0.00738818;AN=214;NS=2504;DP=21238;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G52588C:p.D17530H,TTN:NM_133432:exon155:c.G52963C:p.D17655H,TTN:NM_133437:exon155:c.G53164C:p.D17722H,TTN:NM_133378:exon275:c.G72079C:p.D24027H,TTN:NM_001256850:exon276:c.G74860C:p.D24954H,TTN:NM_001267550:exon326:c.G79783C:p.D26595H;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56307213;CLNALLELEID=56545;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.87;MutationAssessor_score_rankscore=0.960;MutationAssessor_pred=H;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-5.13;PROVEAN_converted_rankscore=0.870;PROVEAN_pred=D;VEST3_score=0.319;VEST3_rankscore=0.567;MetaSVM_score=0.121;MetaSVM_rankscore=0.846;MetaSVM_pred=D;MetaLR_score=0.377;MetaLR_rankscore=0.735;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.689;REVEL_rankscore=0.888;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.573;CADD_raw_rankscore=0.370;CADD_phred=19.93;DANN_score=0.870;DANN_rankscore=0.164;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.891;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.026;Eigen-PC-raw=0.967;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.301;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0200;ExAC_nontcga_ALL=0.0141;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0252;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0106;AF=0.0162;AF_popmax=0.0248;AF_male=0.0148;AF_female=0.0180;AF_raw=0.0162;AF_afr=0.0036;AF_sas=.;AF_amr=0.0059;AF_eas=0.0013;AF_nfe=0.0248;AF_fin=0.0204;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0262;non_neuro_AF_popmax=0.0252;non_cancer_AF_popmax=.;controls_AF_popmax=0.0315;Kaviar_AF=0.0144112;Kaviar_AC=2228;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079100;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179431594 rs3731745 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=16962;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T52070C:p.I17357T,TTN:NM_133432:exon155:c.T52445C:p.I17482T,TTN:NM_133437:exon155:c.T52646C:p.I17549T,TTN:NM_133378:exon275:c.T71561C:p.I23854T,TTN:NM_001256850:exon276:c.T74342C:p.I24781T,TTN:NM_001267550:exon326:c.T79265C:p.I26422T;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731745;CLNALLELEID=56538;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_rankscore=0.591;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1.53;MutationAssessor_score_rankscore=0.389;MutationAssessor_pred=L;FATHMM_score=0.5;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_converted_rankscore=0.710;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.499;MetaSVM_score=-0.983;MetaSVM_rankscore=0.344;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_rankscore=0.123;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.404;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.803;CADD_raw_rankscore=0.278;CADD_phred=15.00;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.839;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.618;Eigen-PC-raw=0.616;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.329;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.58;GERP++_RS_rankscore=0.559;phyloP100way_vertebrate=9.268;phyloP100way_vertebrate_rankscore=0.948;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=12.393;SiPhy_29way_logOdds_rankscore=0.545;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0672;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0234;AF_popmax=0.0546;AF_male=0.0230;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0546;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0553;non_neuro_AF_popmax=0.0546;non_cancer_AF_popmax=.;controls_AF_popmax=0.0486;Kaviar_AF=0.0250967;Kaviar_AC=3880;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.772015;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179431797 rs3731744 A T 100 PASS AC=15;AF=0.0926518;AN=214;NS=2504;DP=19295;EAS_AF=0.1766;AMR_AF=0.0418;AFR_AF=0.1331;EUR_AF=0.0328;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51867A:p.G17289G,TTN:NM_133432:exon155:c.T52242A:p.G17414G,TTN:NM_133437:exon155:c.T52443A:p.G17481G,TTN:NM_133378:exon275:c.T71358A:p.G23786G,TTN:NM_001256850:exon276:c.T74139A:p.G24713G,TTN:NM_001267550:exon326:c.T79062A:p.G26354G;1000g2015aug_all=0.0926518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3731744;CLNALLELEID=56535;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0471;ExAC_nontcga_AFR=0.1253;ExAC_nontcga_AMR=0.0312;ExAC_nontcga_EAS=0.1723;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0223;ExAC_nontcga_OTH=0.0464;ExAC_nontcga_SAS=0.0524;AF=0.0574;AF_popmax=0.1662;AF_male=0.0612;AF_female=0.0525;AF_raw=0.0574;AF_afr=0.1287;AF_sas=.;AF_amr=0.0426;AF_eas=0.1662;AF_nfe=0.0187;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0331;non_topmed_AF_popmax=0.1658;non_neuro_AF_popmax=0.1662;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.0441391;Kaviar_AC=6824;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.244511;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179432004 rs139953862 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19890;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51660C:p.D17220D,TTN:NM_133432:exon155:c.T52035C:p.D17345D,TTN:NM_133437:exon155:c.T52236C:p.D17412D,TTN:NM_133378:exon275:c.T71151C:p.D23717D,TTN:NM_001256850:exon276:c.T73932C:p.D24644D,TTN:NM_001267550:exon326:c.T78855C:p.D26285D;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139953862;CLNALLELEID=173121;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.372e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.118295;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179432185 rs12463674 A G 100 PASS AC=52;AF=0.129992;AN=214;NS=2504;DP=22267;EAS_AF=0.0427;AMR_AF=0.1124;AFR_AF=0.0053;EUR_AF=0.3091;SAS_AF=0.2168;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51479C:p.I17160T,TTN:NM_133432:exon155:c.T51854C:p.I17285T,TTN:NM_133437:exon155:c.T52055C:p.I17352T,TTN:NM_133378:exon275:c.T70970C:p.I23657T,TTN:NM_001256850:exon276:c.T73751C:p.I24584T,TTN:NM_001267550:exon326:c.T78674C:p.I26225T;1000g2015aug_all=0.129992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12463674;CLNALLELEID=56532;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.056;SIFT_converted_rankscore=0.400;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_rankscore=0.431;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_rankscore=0.348;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.511;MutationTaster_pred=P;MutationAssessor_score=2.59;MutationAssessor_score_rankscore=0.760;MutationAssessor_pred=M;FATHMM_score=-0.64;FATHMM_converted_rankscore=0.721;FATHMM_pred=T;PROVEAN_score=-3.23;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.336;VEST3_rankscore=0.646;MetaSVM_score=-1.099;MetaSVM_rankscore=0.043;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.438;REVEL_rankscore=0.745;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.368;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_rankscore=0.562;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.449;Eigen-PC-raw=0.515;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.351;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=6.005;phyloP100way_vertebrate_rankscore=0.702;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.874;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000270574.1|ENSG00000270574.1;GTEx_V6p_tissue=Esophagus_Muscularis|Heart_Left_Ventricle;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3030;ExAC_nontcga_ALL=0.2334;ExAC_nontcga_AFR=0.0463;ExAC_nontcga_AMR=0.0979;ExAC_nontcga_EAS=0.0413;ExAC_nontcga_FIN=0.3982;ExAC_nontcga_NFE=0.3015;ExAC_nontcga_OTH=0.2660;ExAC_nontcga_SAS=0.2201;AF=0.2356;AF_popmax=0.3247;AF_male=0.2274;AF_female=0.2459;AF_raw=0.2358;AF_afr=0.0510;AF_sas=.;AF_amr=0.1351;AF_eas=0.0492;AF_nfe=0.3247;AF_fin=0.3935;AF_asj=0.1966;AF_oth=0.3015;non_topmed_AF_popmax=0.3344;non_neuro_AF_popmax=0.3218;non_cancer_AF_popmax=.;controls_AF_popmax=0.3510;Kaviar_AF=0.23653;Kaviar_AC=36568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.904737;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179433221 rs56018860 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23267;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50443G:p.T16815A,TTN:NM_133432:exon155:c.A50818G:p.T16940A,TTN:NM_133437:exon155:c.A51019G:p.T17007A,TTN:NM_133378:exon275:c.A69934G:p.T23312A,TTN:NM_001256850:exon276:c.A72715G:p.T24239A,TTN:NM_001267550:exon326:c.A77638G:p.T25880A;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56018860;CLNALLELEID=56524;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.304;SIFT_converted_rankscore=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=N;MutationAssessor_score=1.37;MutationAssessor_score_rankscore=0.343;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-2.27;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.144;VEST3_rankscore=0.219;MetaSVM_score=-0.950;MetaSVM_rankscore=0.411;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.098;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.167;CADD_raw_rankscore=0.110;CADD_phred=4.328;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.642;fathmm-MKL_coding_rankscore=0.320;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.508;Eigen-PC-raw=-0.415;GenoCanyon_score=0.056;GenoCanyon_score_rankscore=0.151;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=-1.14;GERP++_RS_rankscore=0.092;phyloP100way_vertebrate=0.742;phyloP100way_vertebrate_rankscore=0.257;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=4.672;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0209;ExAC_nontcga_ALL=0.0267;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0673;ExAC_nontcga_FIN=0.0526;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0291;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0566;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0566;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0573;non_neuro_AF_popmax=0.0566;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0250902;Kaviar_AC=3879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.078343;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179433580 rs3813246 T C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=24508;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A50084G:p.N16695S,TTN:NM_133432:exon155:c.A50459G:p.N16820S,TTN:NM_133437:exon155:c.A50660G:p.N16887S,TTN:NM_133378:exon275:c.A69575G:p.N23192S,TTN:NM_001256850:exon276:c.A72356G:p.N24119S,TTN:NM_001267550:exon326:c.A77279G:p.N25760S;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813246;CLNALLELEID=56521;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.134;SIFT_converted_rankscore=0.263;SIFT_pred=T;Polyphen2_HDIV_score=0.17;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_rankscore=0.314;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=0.32;FATHMM_converted_rankscore=0.585;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_converted_rankscore=0.625;PROVEAN_pred=D;VEST3_score=0.031;VEST3_rankscore=0.075;MetaSVM_score=-1.041;MetaSVM_rankscore=0.169;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.075;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.116;REVEL_rankscore=0.330;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.998;CADD_raw_rankscore=0.189;CADD_phred=10.65;DANN_score=0.864;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.129;Eigen-PC-raw=0.291;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.467;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=5.83;GERP++_RS_rankscore=0.930;phyloP100way_vertebrate=4.184;phyloP100way_vertebrate_rankscore=0.579;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.189;SiPhy_29way_logOdds_rankscore=0.817;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0206;ExAC_nontcga_ALL=0.0267;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0673;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0563;AF_male=0.0231;AF_female=0.0241;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0225;AF_eas=0.0563;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0563;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.0253166;Kaviar_AC=3914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.401979;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179433654 rs55857909 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23935;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G50010A:p.V16670V,TTN:NM_133432:exon155:c.G50385A:p.V16795V,TTN:NM_133437:exon155:c.G50586A:p.V16862V,TTN:NM_133378:exon275:c.G69501A:p.V23167V,TTN:NM_001256850:exon276:c.G72282A:p.V24094V,TTN:NM_001267550:exon326:c.G77205A:p.V25735V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55857909;CLNALLELEID=56520;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0005;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.965696;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179434139 rs3813245 A G 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=21659;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49525C:p.Y16509H,TTN:NM_133432:exon155:c.T49900C:p.Y16634H,TTN:NM_133437:exon155:c.T50101C:p.Y16701H,TTN:NM_133378:exon275:c.T69016C:p.Y23006H,TTN:NM_001256850:exon276:c.T71797C:p.Y23933H,TTN:NM_001267550:exon326:c.T76720C:p.Y25574H;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813245;CLNALLELEID=56514;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.398;SIFT_converted_rankscore=0.105;SIFT_pred=T;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.542;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.787;Polyphen2_HVAR_rankscore=0.558;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.783;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=0.995;MutationAssessor_score_rankscore=0.252;MutationAssessor_pred=L;FATHMM_score=1.04;FATHMM_converted_rankscore=0.402;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.603;PROVEAN_pred=D;VEST3_score=0.275;VEST3_rankscore=0.333;MetaSVM_score=-0.962;MetaSVM_rankscore=0.387;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.058;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.818;CADD_raw_rankscore=0.279;CADD_phred=15.09;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.445;Eigen-PC-raw=0.473;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.54;GERP++_RS_rankscore=0.551;phyloP100way_vertebrate=6.032;phyloP100way_vertebrate_rankscore=0.704;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=12.334;SiPhy_29way_logOdds_rankscore=0.542;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0352;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0525;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0277;ExAC_nontcga_SAS=0.0068;AF=0.0235;AF_popmax=0.0557;AF_male=0.0230;AF_female=0.0240;AF_raw=0.0235;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0557;AF_nfe=0.0238;AF_fin=0.0524;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0564;non_neuro_AF_popmax=0.0557;non_cancer_AF_popmax=.;controls_AF_popmax=0.0476;Kaviar_AF=0.0251355;Kaviar_AC=3886;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.628499;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179434303 rs376185524 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20006;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49361C:p.I16454T,TTN:NM_133432:exon155:c.T49736C:p.I16579T,TTN:NM_133437:exon155:c.T49937C:p.I16646T,TTN:NM_133378:exon275:c.T68852C:p.I22951T,TTN:NM_001256850:exon276:c.T71633C:p.I23878T,TTN:NM_001267550:exon326:c.T76556C:p.I25519T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376185524;CLNALLELEID=193233;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.219;SIFT_converted_rankscore=0.190;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.417;MutationTaster_pred=D;MutationAssessor_score=-0.4;MutationAssessor_score_rankscore=0.030;MutationAssessor_pred=N;FATHMM_score=0.09;FATHMM_converted_rankscore=0.615;FATHMM_pred=T;PROVEAN_score=-2.55;PROVEAN_converted_rankscore=0.625;PROVEAN_pred=D;VEST3_score=0.196;VEST3_rankscore=0.284;MetaSVM_score=-1.013;MetaSVM_rankscore=0.261;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.356;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.442;M-CAP_pred=T;REVEL_score=0.153;REVEL_rankscore=0.407;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.873;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.856;DANN_rankscore=0.155;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.661;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.200;Eigen-PC-raw=0.029;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.323;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.51;GERP++_RS_rankscore=0.544;phyloP100way_vertebrate=7.462;phyloP100way_vertebrate_rankscore=0.797;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.884;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.932e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.826e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.321363;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179434516 rs3813243 C T 100 PASS AC=15;AF=0.0792732;AN=214;NS=2504;DP=21664;EAS_AF=0.1736;AMR_AF=0.0418;AFR_AF=0.0855;EUR_AF=0.0328;SAS_AF=0.0481;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G49148A:p.S16383N,TTN:NM_133432:exon155:c.G49523A:p.S16508N,TTN:NM_133437:exon155:c.G49724A:p.S16575N,TTN:NM_133378:exon275:c.G68639A:p.S22880N,TTN:NM_001256850:exon276:c.G71420A:p.S23807N,TTN:NM_001267550:exon326:c.G76343A:p.S25448N;1000g2015aug_all=0.0792732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813243;CLNALLELEID=56512;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.262;SIFT_converted_rankscore=0.187;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_rankscore=0.431;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.265;Polyphen2_HVAR_rankscore=0.379;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.081;MutationTaster_converted_rankscore=0.372;MutationTaster_pred=P;MutationAssessor_score=0.815;MutationAssessor_score_rankscore=0.209;MutationAssessor_pred=L;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.086;MetaSVM_score=-1.107;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.413;CADD_raw_rankscore=0.351;CADD_phred=18.91;DANN_score=0.815;DANN_rankscore=0.133;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_rankscore=0.479;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.308;Eigen-PC-raw=0.448;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=5.305;phyloP100way_vertebrate_rankscore=0.653;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.308;SiPhy_29way_logOdds_rankscore=0.986;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0202;ExAC_nontcga_ALL=0.0425;ExAC_nontcga_AFR=0.0721;ExAC_nontcga_AMR=0.0298;ExAC_nontcga_EAS=0.1707;ExAC_nontcga_FIN=0.0173;ExAC_nontcga_NFE=0.0223;ExAC_nontcga_OTH=0.0451;ExAC_nontcga_SAS=0.0519;AF=0.0411;AF_popmax=0.1621;AF_male=0.0436;AF_female=0.0379;AF_raw=0.0413;AF_afr=0.0729;AF_sas=.;AF_amr=0.0377;AF_eas=0.1621;AF_nfe=0.0183;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0267;non_topmed_AF_popmax=0.1615;non_neuro_AF_popmax=0.1621;non_cancer_AF_popmax=.;controls_AF_popmax=0.1674;Kaviar_AF=0.0397602;Kaviar_AC=6147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.098843;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179435337 rs6732060 T G 100 PASS AC=11;AF=0.143171;AN=214;NS=2504;DP=22705;EAS_AF=0.0258;AMR_AF=0.1801;AFR_AF=0.2405;EUR_AF=0.0527;SAS_AF=0.1994;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48327C:p.A16109A,TTN:NM_133432:exon155:c.A48702C:p.A16234A,TTN:NM_133437:exon155:c.A48903C:p.A16301A,TTN:NM_133378:exon275:c.A67818C:p.A22606A,TTN:NM_001256850:exon276:c.A70599C:p.A23533A,TTN:NM_001267550:exon326:c.A75522C:p.A25174A;1000g2015aug_all=0.143171;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6732060;CLNALLELEID=56504;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0927;ExAC_nontcga_AFR=0.2246;ExAC_nontcga_AMR=0.2086;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0592;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0870;ExAC_nontcga_SAS=0.1820;AF=0.0892;AF_popmax=0.2129;AF_male=0.0909;AF_female=0.0870;AF_raw=0.0896;AF_afr=0.2129;AF_sas=.;AF_amr=0.1792;AF_eas=0.0285;AF_nfe=0.0316;AF_fin=0.0535;AF_asj=0.0310;AF_oth=0.0617;non_topmed_AF_popmax=0.2144;non_neuro_AF_popmax=0.2041;non_cancer_AF_popmax=.;controls_AF_popmax=0.2137;Kaviar_AF=0.0841645;Kaviar_AC=13012;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.850534;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179435418 rs56151652 T C 100 PASS AC=1;AF=0.00599042;AN=214;NS=2504;DP=22139;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0225;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48246G:p.K16082K,TTN:NM_133432:exon155:c.A48621G:p.K16207K,TTN:NM_133437:exon155:c.A48822G:p.K16274K,TTN:NM_133378:exon275:c.A67737G:p.K22579K,TTN:NM_001256850:exon276:c.A70518G:p.K23506K,TTN:NM_001267550:exon326:c.A75441G:p.K25147K;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56151652;CLNALLELEID=56503;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0223;AF=0.0037;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0042;AF_raw=0.0037;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0020;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0060737;Kaviar_AC=939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.050815;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179436020 rs744426 G A 100 PASS AC=26;AF=0.208067;AN=214;NS=2504;DP=23224;EAS_AF=0.4504;AMR_AF=0.1455;AFR_AF=0.0666;EUR_AF=0.1372;SAS_AF=0.2669;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47644T:p.R15882C,TTN:NM_133432:exon155:c.C48019T:p.R16007C,TTN:NM_133437:exon155:c.C48220T:p.R16074C,TTN:NM_133378:exon275:c.C67135T:p.R22379C,TTN:NM_001256850:exon276:c.C69916T:p.R23306C,TTN:NM_001267550:exon326:c.C74839T:p.R24947C;1000g2015aug_all=0.208067;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs744426;CLNALLELEID=56494;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_rankscore=0.604;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.99;MutationAssessor_score_rankscore=0.540;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-5.3;PROVEAN_converted_rankscore=0.844;PROVEAN_pred=D;VEST3_score=0.366;VEST3_rankscore=0.502;MetaSVM_score=-0.982;MetaSVM_rankscore=0.345;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.301;REVEL_rankscore=0.626;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.394;CADD_raw_rankscore=0.466;CADD_phred=23.0;DANN_score=0.854;DANN_rankscore=0.153;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.573;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.544;Eigen-PC-raw=0.517;GenoCanyon_score=0.493;GenoCanyon_score_rankscore=0.209;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=4.5;GERP++_RS_rankscore=0.542;phyloP100way_vertebrate=3.321;phyloP100way_vertebrate_rankscore=0.515;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.659;SiPhy_29way_logOdds_rankscore=0.617;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1776;ExAC_nontcga_AFR=0.0676;ExAC_nontcga_AMR=0.1493;ExAC_nontcga_EAS=0.4302;ExAC_nontcga_FIN=0.1477;ExAC_nontcga_NFE=0.1452;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.2543;AF=0.1436;AF_popmax=0.4365;AF_male=0.1440;AF_female=0.1431;AF_raw=0.1443;AF_afr=0.0738;AF_sas=.;AF_amr=0.1596;AF_eas=0.4365;AF_nfe=0.1512;AF_fin=0.1490;AF_asj=0.1069;AF_oth=0.1685;non_topmed_AF_popmax=0.4355;non_neuro_AF_popmax=0.4365;non_cancer_AF_popmax=.;controls_AF_popmax=0.4244;Kaviar_AF=0.169823;Kaviar_AC=26255;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.349158;ALLELE_END;VINYL_score=4 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179436257 rs72646898 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=23199;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A47407G:p.I15803V,TTN:NM_133432:exon155:c.A47782G:p.I15928V,TTN:NM_133437:exon155:c.A47983G:p.I15995V,TTN:NM_133378:exon275:c.A66898G:p.I22300V,TTN:NM_001256850:exon276:c.A69679G:p.I23227V,TTN:NM_001267550:exon326:c.A74602G:p.I24868V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646898;CLNALLELEID=283976;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.123;SIFT_converted_rankscore=0.323;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_rankscore=0.367;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.478;MutationTaster_pred=D;MutationAssessor_score=1.575;MutationAssessor_score_rankscore=0.398;MutationAssessor_pred=L;FATHMM_score=0.66;FATHMM_converted_rankscore=0.524;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.137;VEST3_rankscore=0.267;MetaSVM_score=-1.016;MetaSVM_rankscore=0.251;MetaSVM_pred=T;MetaLR_score=0.092;MetaLR_rankscore=0.351;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.219;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.906;CADD_raw_rankscore=0.181;CADD_phred=10.11;DANN_score=0.870;DANN_rankscore=0.164;fathmm-MKL_coding_score=0.946;fathmm-MKL_coding_rankscore=0.614;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.077;Eigen-PC-raw=0.216;GenoCanyon_score=0.735;GenoCanyon_score_rankscore=0.231;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.75;GERP++_RS_rankscore=0.598;phyloP100way_vertebrate=4.999;phyloP100way_vertebrate_rankscore=0.634;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.124;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0004;AF_male=0.0005;AF_female=0;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.506059;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179436303 rs553463282 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22285;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47361G:p.S15787S,TTN:NM_133432:exon155:c.C47736G:p.S15912S,TTN:NM_133437:exon155:c.C47937G:p.S15979S,TTN:NM_133378:exon275:c.C66852G:p.S22284S,TTN:NM_001256850:exon276:c.C69633G:p.S23211S,TTN:NM_001267550:exon326:c.C74556G:p.S24852S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553463282;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.78e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.268e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.753032;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179437034 rs55762754 C G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=22223;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G46630C:p.E15544Q,TTN:NM_133432:exon155:c.G47005C:p.E15669Q,TTN:NM_133437:exon155:c.G47206C:p.E15736Q,TTN:NM_133378:exon275:c.G66121C:p.E22041Q,TTN:NM_001256850:exon276:c.G68902C:p.E22968Q,TTN:NM_001267550:exon326:c.G73825C:p.E24609Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55762754;CLNALLELEID=56487;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.087;SIFT_converted_rankscore=0.324;SIFT_pred=T;Polyphen2_HDIV_score=0.846;Polyphen2_HDIV_rankscore=0.448;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.135;Polyphen2_HVAR_rankscore=0.316;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.945;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.176;VEST3_rankscore=0.429;MetaSVM_score=-0.778;MetaSVM_rankscore=0.564;MetaSVM_pred=T;MetaLR_score=0.116;MetaLR_rankscore=0.410;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.191;CADD_raw_rankscore=0.324;CADD_phred=17.45;DANN_score=0.846;DANN_rankscore=0.149;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.845;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.480;Eigen-PC-raw=0.548;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.557;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=1;GERP++_RS=5.18;GERP++_RS_rankscore=0.710;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=15.767;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0159;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0048;AF_popmax=0.0060;AF_male=0.0044;AF_female=0.0053;AF_raw=0.0048;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0135;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.003053;Kaviar_AC=472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.728459;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179438235 rs56293906 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20652;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A45429G:p.P15143P,TTN:NM_133432:exon155:c.A45804G:p.P15268P,TTN:NM_133437:exon155:c.A46005G:p.P15335P,TTN:NM_133378:exon275:c.A64920G:p.P21640P,TTN:NM_001256850:exon276:c.A67701G:p.P22567P,TTN:NM_001267550:exon326:c.A72624G:p.P24208P;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56293906;CLNALLELEID=56481;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0238;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.052107;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179438866 rs10164753 C T 100 PASS AC=9;AF=0.0978435;AN=214;NS=2504;DP=20055;EAS_AF=0.0258;AMR_AF=0.1542;AFR_AF=0.0877;EUR_AF=0.0467;SAS_AF=0.1984;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44798A:p.R14933H,TTN:NM_133432:exon155:c.G45173A:p.R15058H,TTN:NM_133437:exon155:c.G45374A:p.R15125H,TTN:NM_133378:exon275:c.G64289A:p.R21430H,TTN:NM_001256850:exon276:c.G67070A:p.R22357H,TTN:NM_001267550:exon326:c.G71993A:p.R23998H;1000g2015aug_all=0.0978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10164753;CLNALLELEID=56470;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.21;MutationAssessor_score_rankscore=0.979;MutationAssessor_pred=H;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.721;PROVEAN_pred=D;VEST3_score=0.196;VEST3_rankscore=0.663;MetaSVM_score=-0.659;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.039;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.517;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.024;CADD_raw_rankscore=0.541;CADD_phred=23.6;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.860;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.044;Eigen-PC-raw=0.959;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.546;SiPhy_29way_logOdds_rankscore=0.953;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2|ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0292;ExAC_nontcga_ALL=0.0791;ExAC_nontcga_AFR=0.0811;ExAC_nontcga_AMR=0.2018;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0328;ExAC_nontcga_OTH=0.0812;ExAC_nontcga_SAS=0.1811;AF=0.0510;AF_popmax=0.1698;AF_male=0.0516;AF_female=0.0502;AF_raw=0.0511;AF_afr=0.0819;AF_sas=.;AF_amr=0.1698;AF_eas=0.0294;AF_nfe=0.0292;AF_fin=0.0532;AF_asj=0.0276;AF_oth=0.0496;non_topmed_AF_popmax=0.1754;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0704842;Kaviar_AC=10897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.246934;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179439511 rs145504744 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21446;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44153A:p.R14718H,TTN:NM_133432:exon155:c.G44528A:p.R14843H,TTN:NM_133437:exon155:c.G44729A:p.R14910H,TTN:NM_133378:exon275:c.G63644A:p.R21215H,TTN:NM_001256850:exon276:c.G66425A:p.R22142H,TTN:NM_001267550:exon326:c.G71348A:p.R23783H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145504744;CLNALLELEID=271625;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.885;MutationAssessor_score_rankscore=0.502;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_converted_rankscore=0.701;PROVEAN_pred=D;VEST3_score=0.304;VEST3_rankscore=0.416;MetaSVM_score=-0.325;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.362;MetaLR_rankscore=0.723;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.411;M-CAP_pred=T;REVEL_score=0.402;REVEL_rankscore=0.719;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.171;CADD_raw_rankscore=0.559;CADD_phred=23.8;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.816;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.864;Eigen-PC-raw=0.848;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.603;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.583e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.189e-05;AF_popmax=6.486e-05;AF_male=0;AF_female=7.191e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=7.348e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.890331;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179440029 rs12464787 G A 100 PASS AC=50;AF=0.146565;AN=214;NS=2504;DP=20676;EAS_AF=0.0417;AMR_AF=0.1167;AFR_AF=0.0779;EUR_AF=0.3052;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43635T:p.S14545S,TTN:NM_133432:exon155:c.C44010T:p.S14670S,TTN:NM_133437:exon155:c.C44211T:p.S14737S,TTN:NM_133378:exon275:c.C63126T:p.S21042S,TTN:NM_001256850:exon276:c.C65907T:p.S21969S,TTN:NM_001267550:exon326:c.C70830T:p.S23610S;1000g2015aug_all=0.146565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12464787;CLNALLELEID=56458;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2975;ExAC_nontcga_ALL=0.2365;ExAC_nontcga_AFR=0.1177;ExAC_nontcga_AMR=0.0988;ExAC_nontcga_EAS=0.0414;ExAC_nontcga_FIN=0.3985;ExAC_nontcga_NFE=0.2981;ExAC_nontcga_OTH=0.2660;ExAC_nontcga_SAS=0.2117;AF=0.2539;AF_popmax=0.3221;AF_male=0.2455;AF_female=0.2645;AF_raw=0.2539;AF_afr=0.1221;AF_sas=.;AF_amr=0.1380;AF_eas=0.0489;AF_nfe=0.3221;AF_fin=0.3929;AF_asj=0.1862;AF_oth=0.2987;non_topmed_AF_popmax=0.3315;non_neuro_AF_popmax=0.3193;non_cancer_AF_popmax=.;controls_AF_popmax=0.3505;Kaviar_AF=0.237216;Kaviar_AC=36674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031764;ALLELE_END;VINYL_score=1 GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179440182 rs72646890 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=21328;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T43482C:p.D14494D,TTN:NM_133432:exon155:c.T43857C:p.D14619D,TTN:NM_133437:exon155:c.T44058C:p.D14686D,TTN:NM_133378:exon275:c.T62973C:p.D20991D,TTN:NM_001256850:exon276:c.T65754C:p.D21918D,TTN:NM_001267550:exon326:c.T70677C:p.D23559D;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646890;CLNALLELEID=56454;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0039;AF_popmax=0.0071;AF_male=0.0038;AF_female=0.0039;AF_raw=0.0039;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.883991;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441119 rs115658240 G A 100 PASS AC=1;AF=0.00778754;AN=214;NS=2504;DP=20535;EAS_AF=0;AMR_AF=0;AFR_AF=0.0287;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C42545T:p.P14182L,TTN:NM_133432:exon155:c.C42920T:p.P14307L,TTN:NM_133437:exon155:c.C43121T:p.P14374L,TTN:NM_133378:exon275:c.C62036T:p.P20679L,TTN:NM_001256850:exon276:c.C64817T:p.P21606L,TTN:NM_001267550:exon326:c.C69740T:p.P23247L;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115658240;CLNALLELEID=56441;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.171;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.442;Polyphen2_HDIV_rankscore=0.341;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.093;Polyphen2_HVAR_rankscore=0.334;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.47;MutationAssessor_score_rankscore=0.131;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-4.41;PROVEAN_converted_rankscore=0.790;PROVEAN_pred=D;VEST3_score=0.078;VEST3_rankscore=0.208;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.210;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.372;REVEL_rankscore=0.695;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.369;CADD_raw_rankscore=0.346;CADD_phred=18.62;DANN_score=0.663;DANN_rankscore=0.078;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.950;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.312;Eigen-PC-raw=0.405;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=9.940;phyloP100way_vertebrate_rankscore=0.989;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.849;phastCons20way_mammalian_rankscore=0.354;SiPhy_29way_logOdds=19.934;SiPhy_29way_logOdds_rankscore=0.971;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0280;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.815e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0076;AF_popmax=0.0270;AF_male=0.0080;AF_female=0.0072;AF_raw=0.0076;AF_afr=0.0270;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0272;non_neuro_AF_popmax=0.0310;non_cancer_AF_popmax=.;controls_AF_popmax=0.0319;Kaviar_AF=0.002238;Kaviar_AC=346;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.104464;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441295 rs72646885 T C 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=20363;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646885;CLNALLELEID=56440;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.008;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.555;MutationAssessor_score_rankscore=0.935;MutationAssessor_pred=H;FATHMM_score=-0.51;FATHMM_converted_rankscore=0.706;FATHMM_pred=T;PROVEAN_score=-2.99;PROVEAN_converted_rankscore=0.647;PROVEAN_pred=D;VEST3_score=0.2;VEST3_rankscore=0.373;MetaSVM_score=0.109;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.478;MetaLR_rankscore=0.800;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.566;REVEL_rankscore=0.825;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.439;CADD_raw_rankscore=0.236;CADD_phred=12.99;DANN_score=0.838;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.727;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.650;Eigen-PC-raw=0.554;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.57;GERP++_RS_rankscore=0.557;phyloP100way_vertebrate=7.969;phyloP100way_vertebrate_rankscore=0.875;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.933;phastCons20way_mammalian_rankscore=0.406;SiPhy_29way_logOdds=11.877;SiPhy_29way_logOdds_rankscore=0.516;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0095;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0111;AF=0.0046;AF_popmax=0.0073;AF_male=0.0039;AF_female=0.0054;AF_raw=0.0046;AF_afr=0.0007;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0073;AF_fin=0.0009;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0075;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0072;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.654685;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179441738 rs147525123 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20740;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.T42129C:p.N14043N,TTN:NM_133432:exon153:c.T42504C:p.N14168N,TTN:NM_133437:exon153:c.T42705C:p.N14235N,TTN:NM_133378:exon273:c.T61620C:p.N20540N,TTN:NM_001256850:exon274:c.T64401C:p.N21467N,TTN:NM_001267550:exon324:c.T69324C:p.N23108N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147525123;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.766990;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179441932 rs55980498 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21858;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.C41935T:p.P13979S,TTN:NM_133432:exon153:c.C42310T:p.P14104S,TTN:NM_133437:exon153:c.C42511T:p.P14171S,TTN:NM_133378:exon273:c.C61426T:p.P20476S,TTN:NM_001256850:exon274:c.C64207T:p.P21403S,TTN:NM_001267550:exon324:c.C69130T:p.P23044S;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980498;CLNALLELEID=56430;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.916;Polyphen2_HDIV_rankscore=0.528;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.49;Polyphen2_HVAR_rankscore=0.503;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.82;MutationAssessor_score_rankscore=0.824;MutationAssessor_pred=M;FATHMM_score=-0.67;FATHMM_converted_rankscore=0.725;FATHMM_pred=T;PROVEAN_score=-5.65;PROVEAN_converted_rankscore=0.883;PROVEAN_pred=D;VEST3_score=0.247;VEST3_rankscore=0.343;MetaSVM_score=0.021;MetaSVM_rankscore=0.827;MetaSVM_pred=D;MetaLR_score=0.417;MetaLR_rankscore=0.763;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.540;M-CAP_pred=D;REVEL_score=0.593;REVEL_rankscore=0.840;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.114;CADD_raw_rankscore=0.315;CADD_phred=16.94;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.882;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.798;Eigen-PC-raw=0.806;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.62;GERP++_RS_rankscore=0.857;phyloP100way_vertebrate=8.077;phyloP100way_vertebrate_rankscore=0.892;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=20.028;SiPhy_29way_logOdds_rankscore=0.975;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0047;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0011;AF=0.0038;AF_popmax=0.0051;AF_male=0.0038;AF_female=0.0038;AF_raw=0.0038;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0046;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.158697;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179442292 rs148238009 TA T 100 PASS AC=26;AF=0.0678914;AN=214;NS=2504;DP=20948;EAS_AF=0.006;AMR_AF=0.0634;AFR_AF=0.0635;EUR_AF=0.1054;SAS_AF=0.1022;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1192;ExAC_nontcga_ALL=0.1389;ExAC_nontcga_AFR=0.0935;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0280;ExAC_nontcga_FIN=0.1183;ExAC_nontcga_NFE=0.1652;ExAC_nontcga_OTH=0.1336;ExAC_nontcga_SAS=0.1786;AF=0.0906;AF_popmax=0.1117;AF_male=0.0902;AF_female=0.0911;AF_raw=0.0875;AF_afr=0.0633;AF_sas=.;AF_amr=0.0421;AF_eas=0.0046;AF_nfe=0.1117;AF_fin=0.1181;AF_asj=0.0616;AF_oth=0.1053;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1188;Kaviar_AF=0.002335;Kaviar_AC=361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148238009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1192;ExAC_nontcga_ALL=0.1389;ExAC_nontcga_AFR=0.0935;ExAC_nontcga_AMR=0.0942;ExAC_nontcga_EAS=0.0280;ExAC_nontcga_FIN=0.1183;ExAC_nontcga_NFE=0.1652;ExAC_nontcga_OTH=0.1336;ExAC_nontcga_SAS=0.1786;AF=0.0906;AF_popmax=0.1117;AF_male=0.0902;AF_female=0.0911;AF_raw=0.0875;AF_afr=0.0633;AF_sas=.;AF_amr=0.0421;AF_eas=0.0046;AF_nfe=0.1117;AF_fin=0.1181;AF_asj=0.0616;AF_oth=0.1053;non_topmed_AF_popmax=0.1162;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1188;Kaviar_AF=0.002335;Kaviar_AC=361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179442784 rs72646880 C G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18194;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon150:c.G41263C:p.A13755P,TTN:NM_133432:exon151:c.G41638C:p.A13880P,TTN:NM_133437:exon151:c.G41839C:p.A13947P,TTN:NM_133378:exon271:c.G60754C:p.A20252P,TTN:NM_001256850:exon272:c.G63535C:p.A21179P,TTN:NM_001267550:exon322:c.G68458C:p.A22820P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646880;CLNALLELEID=56433;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-1.04;FATHMM_converted_rankscore=0.766;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.464;VEST3_rankscore=0.685;MetaSVM_score=0.738;MetaSVM_rankscore=0.936;MetaSVM_pred=D;MetaLR_score=0.763;MetaLR_rankscore=0.919;MetaLR_pred=D;M-CAP_score=0.130;M-CAP_rankscore=0.812;M-CAP_pred=D;REVEL_score=0.761;REVEL_rankscore=0.920;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.997;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.934;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.063;Eigen-PC-raw=0.993;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.83;GERP++_RS_rankscore=0.930;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.120;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0027;AF=0.0012;AF_popmax=0.0021;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0019211;Kaviar_AC=297;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.280985;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179443540 rs10497517 A G 100 PASS AC=11;AF=0.135982;AN=214;NS=2504;DP=21772;EAS_AF=0.0258;AMR_AF=0.1744;AFR_AF=0.2163;EUR_AF=0.0527;SAS_AF=0.1994;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.T41022C:p.H13674H,TTN:NM_133432:exon149:c.T41397C:p.H13799H,TTN:NM_133437:exon149:c.T41598C:p.H13866H,TTN:NM_133378:exon269:c.T60513C:p.H20171H,TTN:NM_001256850:exon270:c.T63294C:p.H21098H,TTN:NM_001267550:exon320:c.T68217C:p.H22739H;1000g2015aug_all=0.135982;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497517;CLNALLELEID=56428;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0327;ExAC_nontcga_ALL=0.0912;ExAC_nontcga_AFR=0.2025;ExAC_nontcga_AMR=0.2106;ExAC_nontcga_EAS=0.0241;ExAC_nontcga_FIN=0.0591;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.1822;AF=0.0839;AF_popmax=0.1941;AF_male=0.0860;AF_female=0.0813;AF_raw=0.0841;AF_afr=0.1941;AF_sas=.;AF_amr=0.1809;AF_eas=0.0286;AF_nfe=0.0317;AF_fin=0.0532;AF_asj=0.0310;AF_oth=0.0589;non_topmed_AF_popmax=0.1953;non_neuro_AF_popmax=0.1866;non_cancer_AF_popmax=.;controls_AF_popmax=0.1947;Kaviar_AF=0.0825474;Kaviar_AC=12762;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.237475;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444137 rs2288571 A G 100 PASS AC=42;AF=0.347444;AN=214;NS=2504;DP=20771;EAS_AF=0.6329;AMR_AF=0.2075;AFR_AF=0.3517;EUR_AF=0.173;SAS_AF=0.3262;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.347444;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288571;CLNALLELEID=141507;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1688;ExAC_nontcga_ALL=0.2431;ExAC_nontcga_AFR=0.3485;ExAC_nontcga_AMR=0.1908;ExAC_nontcga_EAS=0.6117;ExAC_nontcga_FIN=0.1660;ExAC_nontcga_NFE=0.1733;ExAC_nontcga_OTH=0.2210;ExAC_nontcga_SAS=0.3331;AF=0.2436;AF_popmax=0.6116;AF_male=0.2489;AF_female=0.2370;AF_raw=0.2439;AF_afr=0.3451;AF_sas=.;AF_amr=0.2111;AF_eas=0.6116;AF_nfe=0.1730;AF_fin=0.1631;AF_asj=0.1724;AF_oth=0.2160;non_topmed_AF_popmax=0.6104;non_neuro_AF_popmax=0.6116;non_cancer_AF_popmax=.;controls_AF_popmax=0.6049;Kaviar_AF=0.226271;Kaviar_AC=34982;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179444166 rs148740174 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21385;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148740174;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.17e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.811e-05;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=7.434e-05;AF=3.188e-05;AF_popmax=0.0001;AF_male=5.728e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444289 rs2288570 A G 100 PASS AC=5;AF=0.0283546;AN=214;NS=2504;DP=21779;EAS_AF=0.0605;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon147:c.T40440C:p.V13480V,TTN:NM_133432:exon148:c.T40815C:p.V13605V,TTN:NM_133437:exon148:c.T41016C:p.V13672V,TTN:NM_133378:exon268:c.T59931C:p.V19977V,TTN:NM_001256850:exon269:c.T62712C:p.V20904V,TTN:NM_001267550:exon319:c.T67635C:p.V22545V;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288570;CLNALLELEID=56420;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.016;esp6500siv2_ea=0.0225;ExAC_nontcga_ALL=0.0315;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.0671;ExAC_nontcga_FIN=0.0532;ExAC_nontcga_NFE=0.0276;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0299;AF=0.0246;AF_popmax=0.0575;AF_male=0.0241;AF_female=0.0253;AF_raw=0.0246;AF_afr=0.0048;AF_sas=.;AF_amr=0.0225;AF_eas=0.0575;AF_nfe=0.0256;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0304;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0290553;Kaviar_AC=4492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.948089;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444626 rs72646874 A C 100 PASS AC=3;AF=0.0223642;AN=214;NS=2504;DP=23425;EAS_AF=0.0605;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0533;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0069;AF=0.0236;AF_popmax=0.0568;AF_male=0.0232;AF_female=0.0242;AF_raw=0.0236;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0568;AF_nfe=0.0240;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0250191;Kaviar_AC=3868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0223642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646874;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0207;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0350;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0533;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0290;ExAC_nontcga_SAS=0.0069;AF=0.0236;AF_popmax=0.0568;AF_male=0.0232;AF_female=0.0242;AF_raw=0.0236;AF_afr=0.0047;AF_sas=.;AF_amr=0.0224;AF_eas=0.0568;AF_nfe=0.0240;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0303;non_topmed_AF_popmax=0.0576;non_neuro_AF_popmax=0.0568;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0250191;Kaviar_AC=3868;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179444768 rs4145333 C G 100 PASS AC=214;AF=0.994609;AN=214;NS=2504;DP=19917;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.9811;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P;1000g2015aug_all=0.994609;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4145333;CLNALLELEID=56415;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.371;SIFT_converted_rankscore=0.139;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.145;MutationAssessor_score_rankscore=0.044;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_converted_rankscore=0.080;PROVEAN_pred=N;VEST3_score=0.068;VEST3_rankscore=0.067;MetaSVM_score=-1.003;MetaSVM_rankscore=0.291;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.011;CADD_raw_rankscore=0.093;CADD_phred=2.486;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.308;Eigen-PC-raw=-1.191;GenoCanyon_score=0.077;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.82;GERP++_RS_rankscore=0.241;phyloP100way_vertebrate=0.887;phyloP100way_vertebrate_rankscore=0.277;phyloP20way_mammalian=-0.642;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.547;phastCons100way_vertebrate_rankscore=0.271;phastCons20way_mammalian=0.829;phastCons20way_mammalian_rankscore=0.346;SiPhy_29way_logOdds=0.542;SiPhy_29way_logOdds_rankscore=0.006;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9986;ExAC_nontcga_AFR=0.9857;ExAC_nontcga_AMR=0.9988;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9968;AF_popmax=1;AF_male=0.9964;AF_female=0.9974;AF_raw=0.9968;AF_afr=0.9890;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947562;Kaviar_AC=146495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.226625;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179444939 rs2303838 C T 100 PASS AC=48;AF=0.351238;AN=214;NS=2504;DP=20260;EAS_AF=0.631;AMR_AF=0.2147;AFR_AF=0.3434;EUR_AF=0.1849;SAS_AF=0.3415;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G39880A:p.V13294I,TTN:NM_133432:exon147:c.G40255A:p.V13419I,TTN:NM_133437:exon147:c.G40456A:p.V13486I,TTN:NM_133378:exon267:c.G59371A:p.V19791I,TTN:NM_001256850:exon268:c.G62152A:p.V20718I,TTN:NM_001267550:exon318:c.G67075A:p.V22359I;1000g2015aug_all=0.351238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303838;CLNALLELEID=56412;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.073;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.036;MutationTaster_converted_rankscore=0.409;MutationTaster_pred=P;MutationAssessor_score=1.435;MutationAssessor_score_rankscore=0.361;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_converted_rankscore=0.204;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.159;MetaSVM_score=-0.962;MetaSVM_rankscore=0.389;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.029;REVEL_rankscore=0.069;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.514;CADD_raw_rankscore=0.244;CADD_phred=13.39;DANN_score=0.894;DANN_rankscore=0.182;fathmm-MKL_coding_score=0.304;fathmm-MKL_coding_rankscore=0.239;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.618;Eigen-PC-raw=-0.546;GenoCanyon_score=0.180;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.61;GERP++_RS_rankscore=0.301;phyloP100way_vertebrate=-0.014;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=0.022;phyloP20way_mammalian_rankscore=0.145;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=6.761;SiPhy_29way_logOdds_rankscore=0.226;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1769;ExAC_nontcga_ALL=0.2464;ExAC_nontcga_AFR=0.3351;ExAC_nontcga_AMR=0.1930;ExAC_nontcga_EAS=0.6003;ExAC_nontcga_FIN=0.1655;ExAC_nontcga_NFE=0.1782;ExAC_nontcga_OTH=0.2267;ExAC_nontcga_SAS=0.3315;AF=0.2423;AF_popmax=0.6041;AF_male=0.2478;AF_female=0.2352;AF_raw=0.2430;AF_afr=0.3324;AF_sas=.;AF_amr=0.2158;AF_eas=0.6041;AF_nfe=0.1781;AF_fin=0.1625;AF_asj=0.1736;AF_oth=0.2169;non_topmed_AF_popmax=0.6027;non_neuro_AF_popmax=0.6041;non_cancer_AF_popmax=.;controls_AF_popmax=0.5996;Kaviar_AF=0.233192;Kaviar_AC=36052;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.290230;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179446381 rs72646869 C T 100 PASS AC=8;AF=0.00579073;AN=214;NS=2504;DP=17625;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon144:c.G39419A:p.R13140K,TTN:NM_133432:exon145:c.G39794A:p.R13265K,TTN:NM_133437:exon145:c.G39995A:p.R13332K,TTN:NM_133378:exon265:c.G58910A:p.R19637K,TTN:NM_001256850:exon266:c.G61691A:p.R20564K,TTN:NM_001267550:exon316:c.G66614A:p.R22205K;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646869;CLNALLELEID=56401;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.575;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.122;Polyphen2_HDIV_rankscore=0.252;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=D;MutationAssessor_score=-0.045;MutationAssessor_score_rankscore=0.049;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_converted_rankscore=0.570;FATHMM_pred=T;PROVEAN_score=-1.57;PROVEAN_converted_rankscore=0.385;PROVEAN_pred=N;VEST3_score=0.288;VEST3_rankscore=0.354;MetaSVM_score=-1.035;MetaSVM_rankscore=0.189;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.153;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.069;REVEL_rankscore=0.206;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.234;CADD_raw_rankscore=0.448;CADD_phred=22.8;DANN_score=0.920;DANN_rankscore=0.207;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_rankscore=0.485;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=0.148;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=1.751;phyloP100way_vertebrate_rankscore=0.377;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=19.389;SiPhy_29way_logOdds_rankscore=0.945;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0082;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0174;ExAC_nontcga_NFE=0.0229;ExAC_nontcga_OTH=0.0176;ExAC_nontcga_SAS=0.0021;AF=0.0130;AF_popmax=0.0177;AF_male=0.0124;AF_female=0.0139;AF_raw=0.0131;AF_afr=0.0044;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0177;AF_fin=0.0201;AF_asj=0;AF_oth=0.0166;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0114;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.423139;ALLELE_END;VINYL_score=2.5 GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179447848 rs4894029 T C 100 PASS AC=58;AF=0.513778;AN=214;NS=2504;DP=18418;EAS_AF=0.7202;AMR_AF=0.4078;AFR_AF=0.5749;EUR_AF=0.2555;SAS_AF=0.5593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.A38487G:p.T12829T,TTN:NM_133432:exon142:c.A38862G:p.T12954T,TTN:NM_133437:exon142:c.A39063G:p.T13021T,TTN:NM_133378:exon262:c.A57978G:p.T19326T,TTN:NM_001256850:exon263:c.A60759G:p.T20253T,TTN:NM_001267550:exon313:c.A65682G:p.T21894T;1000g2015aug_all=0.513778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894029;CLNALLELEID=56392;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2244;ExAC_nontcga_ALL=0.3683;ExAC_nontcga_AFR=0.5542;ExAC_nontcga_AMR=0.4420;ExAC_nontcga_EAS=0.6999;ExAC_nontcga_FIN=0.2785;ExAC_nontcga_NFE=0.2388;ExAC_nontcga_OTH=0.3433;ExAC_nontcga_SAS=0.5301;AF=0.3519;AF_popmax=0.6942;AF_male=0.3582;AF_female=0.3438;AF_raw=0.3527;AF_afr=0.5449;AF_sas=.;AF_amr=0.4123;AF_eas=0.6942;AF_nfe=0.2299;AF_fin=0.2693;AF_asj=0.2414;AF_oth=0.3066;non_topmed_AF_popmax=0.6938;non_neuro_AF_popmax=0.6942;non_cancer_AF_popmax=.;controls_AF_popmax=0.6805;Kaviar_AF=0.339782;Kaviar_AC=52531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.583328;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179448315 rs72646865 A C 100 PASS AC=5;AF=0.0391374;AN=214;NS=2504;DP=19389;EAS_AF=0.0605;AMR_AF=0.0317;AFR_AF=0.0386;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646865;CLNALLELEID=141503;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0515;ExAC_nontcga_AMR=0.0580;ExAC_nontcga_EAS=0.0879;ExAC_nontcga_FIN=0.0649;ExAC_nontcga_NFE=0.0401;ExAC_nontcga_OTH=0.0381;ExAC_nontcga_SAS=0.0544;AF=0.0340;AF_popmax=0.0576;AF_male=0.0341;AF_female=0.0338;AF_raw=0.0340;AF_afr=0.0379;AF_sas=.;AF_amr=0.0248;AF_eas=0.0576;AF_nfe=0.0257;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0322;non_topmed_AF_popmax=0.0584;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0308664;Kaviar_AC=4772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179448967 rs72646862 A AAAC 100 PASS AC=5;AF=0.0920527;AN=214;NS=2504;DP=23100;EAS_AF=0.0258;AMR_AF=0.1455;AFR_AF=0.0885;EUR_AF=0.0388;SAS_AF=0.182;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3041809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0686;ExAC_nontcga_AFR=0.0808;ExAC_nontcga_AMR=0.1994;ExAC_nontcga_EAS=0.0244;ExAC_nontcga_FIN=0.0590;ExAC_nontcga_NFE=0.0271;ExAC_nontcga_OTH=0.0833;ExAC_nontcga_SAS=0.1748;AF=0.0479;AF_popmax=0.1639;AF_male=0.0482;AF_female=0.0476;AF_raw=0.0483;AF_afr=0.0802;AF_sas=.;AF_amr=0.1639;AF_eas=0.0276;AF_nfe=0.0247;AF_fin=0.0530;AF_asj=0.0276;AF_oth=0.0470;non_topmed_AF_popmax=0.1692;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.002031;Kaviar_AC=314;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179449131 rs13021201 G A 100 PASS AC=7;AF=0.0107827;AN=214;NS=2504;DP=19337;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0368;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37952T:p.S12651L,TTN:NM_133432:exon140:c.C38327T:p.S12776L,TTN:NM_133437:exon140:c.C38528T:p.S12843L,TTN:NM_133378:exon260:c.C57443T:p.S19148L,TTN:NM_001256850:exon261:c.C60224T:p.S20075L,TTN:NM_001267550:exon311:c.C65147T:p.S21716L;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13021201;CLNALLELEID=56383;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.031;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_rankscore=0.392;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.266;Polyphen2_HVAR_rankscore=0.380;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.555;MutationAssessor_score_rankscore=0.395;MutationAssessor_pred=L;FATHMM_score=0.28;FATHMM_converted_rankscore=0.591;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_converted_rankscore=0.759;PROVEAN_pred=D;VEST3_score=0.38;VEST3_rankscore=0.464;MetaSVM_score=-0.891;MetaSVM_rankscore=0.489;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_rankscore=0.252;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.355;CADD_raw_rankscore=0.462;CADD_phred=22.9;DANN_score=0.923;DANN_rankscore=0.211;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.978;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.570;Eigen-PC-raw=0.689;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=9.940;phyloP100way_vertebrate_rankscore=0.989;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.406;SiPhy_29way_logOdds_rankscore=0.990;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0426;ExAC_nontcga_ALL=0.0249;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0141;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0377;ExAC_nontcga_OTH=0.0117;ExAC_nontcga_SAS=0.0174;AF=0.0224;AF_popmax=0.0350;AF_male=0.0226;AF_female=0.0221;AF_raw=0.0223;AF_afr=0.0087;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0350;AF_fin=0.0121;AF_asj=0.0069;AF_oth=0.0267;non_topmed_AF_popmax=0.0318;non_neuro_AF_popmax=0.0342;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0270889;Kaviar_AC=4188;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.438228;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179449186 rs72646861 G A 100 PASS AC=2;AF=0.0129792;AN=214;NS=2504;DP=19635;EAS_AF=0.0228;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0368;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646861;CLNALLELEID=56381;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.053;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.68;MutationAssessor_score_rankscore=0.787;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_converted_rankscore=0.553;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_converted_rankscore=0.897;PROVEAN_pred=D;VEST3_score=0.361;VEST3_rankscore=0.552;MetaSVM_score=-0.451;MetaSVM_rankscore=0.704;MetaSVM_pred=T;MetaLR_score=0.239;MetaLR_rankscore=0.608;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.103;CADD_raw_rankscore=0.551;CADD_phred=23.7;DANN_score=0.896;DANN_rankscore=0.184;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.666;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.849;Eigen-PC-raw=0.840;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.422;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.08;GERP++_RS_rankscore=0.990;phyloP100way_vertebrate=5.148;phyloP100way_vertebrate_rankscore=0.645;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.665;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0094;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0.0182;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0378;AF=0.0022;AF_popmax=0.0189;AF_male=0.0026;AF_female=0.0017;AF_raw=0.0022;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0.0189;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0194;non_neuro_AF_popmax=0.0189;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.684260;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179449579 rs150661999 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18091;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150661999;CLNALLELEID=56378;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.981;Polyphen2_HVAR_rankscore=0.769;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.11;MutationAssessor_score_rankscore=0.880;MutationAssessor_pred=M;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_converted_rankscore=0.506;PROVEAN_pred=N;VEST3_score=0.281;VEST3_rankscore=0.405;MetaSVM_score=0.409;MetaSVM_rankscore=0.892;MetaSVM_pred=D;MetaLR_score=0.629;MetaLR_rankscore=0.870;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.898;CADD_raw_rankscore=0.409;CADD_phred=21.8;DANN_score=0.976;DANN_rankscore=0.342;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.655;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.927;Eigen-PC-raw=0.866;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=3.342;phyloP100way_vertebrate_rankscore=0.516;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.557;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.610841;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179451420 rs2042996 G A 100 PASS AC=56;AF=0.507588;AN=214;NS=2504;DP=19158;EAS_AF=0.7212;AMR_AF=0.4078;AFR_AF=0.5582;EUR_AF=0.2485;SAS_AF=0.5562;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon136:c.C37013T:p.T12338I,TTN:NM_133432:exon137:c.C37388T:p.T12463I,TTN:NM_133437:exon137:c.C37589T:p.T12530I,TTN:NM_133378:exon257:c.C56504T:p.T18835I,TTN:NM_001256850:exon258:c.C59285T:p.T19762I,TTN:NM_001267550:exon308:c.C64208T:p.T21403I;1000g2015aug_all=0.507588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2042996;CLNALLELEID=56374;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.205;MutationTaster_pred=P;MutationAssessor_score=-3.635;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=2.99;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.146;MetaSVM_score=-0.907;MetaSVM_rankscore=0.472;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.201;REVEL_rankscore=0.491;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.015;CADD_raw_rankscore=0.422;CADD_phred=22.3;DANN_score=0.769;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.200;fathmm-MKL_coding_rankscore=0.207;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.633;Eigen-PC-raw=-0.261;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.396;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=5.884;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=0.244;phyloP20way_mammalian_rankscore=0.267;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=12.366;SiPhy_29way_logOdds_rankscore=0.544;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2197;ExAC_nontcga_ALL=0.3605;ExAC_nontcga_AFR=0.5338;ExAC_nontcga_AMR=0.4318;ExAC_nontcga_EAS=0.7007;ExAC_nontcga_FIN=0.2768;ExAC_nontcga_NFE=0.2315;ExAC_nontcga_OTH=0.3362;ExAC_nontcga_SAS=0.5243;AF=0.3442;AF_popmax=0.6984;AF_male=0.3503;AF_female=0.3366;AF_raw=0.3447;AF_afr=0.5245;AF_sas=.;AF_amr=0.4090;AF_eas=0.6984;AF_nfe=0.2261;AF_fin=0.2686;AF_asj=0.2414;AF_oth=0.2989;non_topmed_AF_popmax=0.6968;non_neuro_AF_popmax=0.6984;non_cancer_AF_popmax=.;controls_AF_popmax=0.6847;Kaviar_AF=0.336522;Kaviar_AC=52027;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.427326;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179451906 rs72646857 G A 100 PASS AC=2;AF=0.0131789;AN=214;NS=2504;DP=20053;EAS_AF=0.0308;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon135:c.C36837T:p.N12279N,TTN:NM_133432:exon136:c.C37212T:p.N12404N,TTN:NM_133437:exon136:c.C37413T:p.N12471N,TTN:NM_133378:exon256:c.C56328T:p.N18776N,TTN:NM_001256850:exon257:c.C59109T:p.N19703N,TTN:NM_001267550:exon307:c.C64032T:p.N21344N;1000g2015aug_all=0.0131789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646857;CLNALLELEID=56370;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0.0360;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0063;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0257;AF=0.0064;AF_popmax=0.0407;AF_male=0.0062;AF_female=0.0068;AF_raw=0.0065;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0.0407;AF_nfe=0.0058;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0410;non_neuro_AF_popmax=0.0407;non_cancer_AF_popmax=.;controls_AF_popmax=0.0394;Kaviar_AF=0.0091525;Kaviar_AC=1415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.456756;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179453429 rs72646850 G A 100 PASS AC=4;AF=0.00579073;AN=214;NS=2504;DP=20616;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C35828T:p.T11943I,TTN:NM_133432:exon133:c.C36203T:p.T12068I,TTN:NM_133437:exon133:c.C36404T:p.T12135I,TTN:NM_133378:exon253:c.C55319T:p.T18440I,TTN:NM_001256850:exon254:c.C58100T:p.T19367I,TTN:NM_001267550:exon304:c.C63023T:p.T21008I;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646850;CLNALLELEID=56353;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.392;SIFT_converted_rankscore=0.107;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.17;MutationAssessor_score_rankscore=0.043;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_converted_rankscore=0.032;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.137;MetaSVM_score=-1.071;MetaSVM_rankscore=0.093;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_rankscore=0.203;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.172;REVEL_rankscore=0.442;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.383;CADD_raw_rankscore=0.063;CADD_phred=0.424;DANN_score=0.714;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.052;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.248;Eigen-PC-raw=-1.249;GenoCanyon_score=0.203;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-6.48;GERP++_RS_rankscore=0.017;phyloP100way_vertebrate=1.231;phyloP100way_vertebrate_rankscore=0.320;phyloP20way_mammalian=-0.648;phyloP20way_mammalian_rankscore=0.041;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.079;phastCons20way_mammalian_rankscore=0.180;SiPhy_29way_logOdds=19.640;SiPhy_29way_logOdds_rankscore=0.957;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0163;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0140;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0006;AF=0.0077;AF_popmax=0.0130;AF_male=0.0076;AF_female=0.0078;AF_raw=0.0077;AF_afr=0.0023;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0124;AF_fin=0.0006;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0136;non_neuro_AF_popmax=0.0120;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0097153;Kaviar_AC=1502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.010315;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179454394 rs1560221 A G 100 PASS AC=57;AF=0.51238;AN=214;NS=2504;DP=22023;EAS_AF=0.7232;AMR_AF=0.4092;AFR_AF=0.5681;EUR_AF=0.2545;SAS_AF=0.5583;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.T34863C:p.Y11621Y,TTN:NM_133432:exon133:c.T35238C:p.Y11746Y,TTN:NM_133437:exon133:c.T35439C:p.Y11813Y,TTN:NM_133378:exon253:c.T54354C:p.Y18118Y,TTN:NM_001256850:exon254:c.T57135C:p.Y19045Y,TTN:NM_001267550:exon304:c.T62058C:p.Y20686Y;1000g2015aug_all=0.51238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1560221;CLNALLELEID=56344;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2249;ExAC_nontcga_ALL=0.3635;ExAC_nontcga_AFR=0.5451;ExAC_nontcga_AMR=0.4331;ExAC_nontcga_EAS=0.7029;ExAC_nontcga_FIN=0.2774;ExAC_nontcga_NFE=0.2340;ExAC_nontcga_OTH=0.3391;ExAC_nontcga_SAS=0.5257;AF=0.3497;AF_popmax=0.7016;AF_male=0.3563;AF_female=0.3413;AF_raw=0.3499;AF_afr=0.5369;AF_sas=.;AF_amr=0.4111;AF_eas=0.7016;AF_nfe=0.2297;AF_fin=0.2690;AF_asj=0.2414;AF_oth=0.3026;non_topmed_AF_popmax=0.7;non_neuro_AF_popmax=0.7016;non_cancer_AF_popmax=.;controls_AF_popmax=0.6885;Kaviar_AF=0.335668;Kaviar_AC=51895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.402423;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179454530 rs199895260 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=22454;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.G34727A:p.R11576Q,TTN:NM_133432:exon133:c.G35102A:p.R11701Q,TTN:NM_133437:exon133:c.G35303A:p.R11768Q,TTN:NM_133378:exon253:c.G54218A:p.R18073Q,TTN:NM_001256850:exon254:c.G56999A:p.R19000Q,TTN:NM_001267550:exon304:c.G61922A:p.R20641Q;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199895260;CLNALLELEID=56342;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.425;MutationAssessor_score_rankscore=0.921;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-3.25;PROVEAN_converted_rankscore=0.652;PROVEAN_pred=D;VEST3_score=0.25;VEST3_rankscore=0.610;MetaSVM_score=-0.035;MetaSVM_rankscore=0.815;MetaSVM_pred=T;MetaLR_score=0.479;MetaLR_rankscore=0.801;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.431;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.623;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.963;DANN_rankscore=0.289;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.839;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.983;Eigen-PC-raw=0.959;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=6.1;GERP++_RS_rankscore=0.991;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.715;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0027;AF_popmax=0.0040;AF_male=0.0022;AF_female=0.0033;AF_raw=0.0027;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0043;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0041;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0025614;Kaviar_AC=396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.527623;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179455207 rs2163009 T C 100 PASS AC=57;AF=0.51238;AN=214;NS=2504;DP=22493;EAS_AF=0.7232;AMR_AF=0.4078;AFR_AF=0.5688;EUR_AF=0.2545;SAS_AF=0.5583;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A34050G:p.T11350T,TTN:NM_133432:exon133:c.A34425G:p.T11475T,TTN:NM_133437:exon133:c.A34626G:p.T11542T,TTN:NM_133378:exon253:c.A53541G:p.T17847T,TTN:NM_001256850:exon254:c.A56322G:p.T18774T,TTN:NM_001267550:exon304:c.A61245G:p.T20415T;1000g2015aug_all=0.51238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2163009;CLNALLELEID=56335;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2242;ExAC_nontcga_ALL=0.3641;ExAC_nontcga_AFR=0.5471;ExAC_nontcga_AMR=0.4336;ExAC_nontcga_EAS=0.7031;ExAC_nontcga_FIN=0.2776;ExAC_nontcga_NFE=0.2345;ExAC_nontcga_OTH=0.3401;ExAC_nontcga_SAS=0.5263;AF=0.3497;AF_popmax=0.7014;AF_male=0.3563;AF_female=0.3414;AF_raw=0.3502;AF_afr=0.5368;AF_sas=.;AF_amr=0.4100;AF_eas=0.7014;AF_nfe=0.2297;AF_fin=0.2690;AF_asj=0.2414;AF_oth=0.3015;non_topmed_AF_popmax=0.6999;non_neuro_AF_popmax=0.7014;non_cancer_AF_popmax=.;controls_AF_popmax=0.6865;Kaviar_AF=0.339491;Kaviar_AC=52486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.804101;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179455352 rs141973925 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=22262;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.G33905A:p.R11302Q,TTN:NM_133432:exon133:c.G34280A:p.R11427Q,TTN:NM_133437:exon133:c.G34481A:p.R11494Q,TTN:NM_133378:exon253:c.G53396A:p.R17799Q,TTN:NM_001256850:exon254:c.G56177A:p.R18726Q,TTN:NM_001267550:exon304:c.G61100A:p.R20367Q;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141973925;CLNALLELEID=56333;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.017;SIFT_converted_rankscore=0.512;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.975;MutationAssessor_score_rankscore=0.537;MutationAssessor_pred=M;FATHMM_score=1.1;FATHMM_converted_rankscore=0.390;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.227;VEST3_rankscore=0.355;MetaSVM_score=-0.752;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.230;MetaLR_rankscore=0.596;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.258;M-CAP_pred=T;REVEL_score=0.310;REVEL_rankscore=0.636;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.890;CADD_raw_rankscore=0.524;CADD_phred=23.5;DANN_score=0.968;DANN_rankscore=0.305;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.774;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.775;Eigen-PC-raw=0.806;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.11;GERP++_RS_rankscore=0.991;phyloP100way_vertebrate=6.058;phyloP100way_vertebrate_rankscore=0.706;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.734;SiPhy_29way_logOdds_rankscore=0.997;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0026;AF_popmax=0.0044;AF_male=0.0029;AF_female=0.0023;AF_raw=0.0026;AF_afr=0.0007;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0037839;Kaviar_AC=585;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.286035;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179455595 rs553761018 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21154;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A33662G:p.N11221S,TTN:NM_133432:exon133:c.A34037G:p.N11346S,TTN:NM_133437:exon133:c.A34238G:p.N11413S,TTN:NM_133378:exon253:c.A53153G:p.N17718S,TTN:NM_001256850:exon254:c.A55934G:p.N18645S,TTN:NM_001267550:exon304:c.A60857G:p.N20286S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553761018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.19;SIFT_converted_rankscore=0.211;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.431;MutationTaster_pred=D;MutationAssessor_score=0.835;MutationAssessor_score_rankscore=0.211;MutationAssessor_pred=L;FATHMM_score=0.46;FATHMM_converted_rankscore=0.563;FATHMM_pred=T;PROVEAN_score=-3.27;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=D;VEST3_score=0.055;VEST3_rankscore=0.059;MetaSVM_score=-1.022;MetaSVM_rankscore=0.232;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.422;M-CAP_pred=T;REVEL_score=0.095;REVEL_rankscore=0.279;MutPred_score=0.291;MutPred_rankscore=0.253;CADD_raw=0.486;CADD_raw_rankscore=0.141;CADD_phred=7.324;DANN_score=0.831;DANN_rankscore=0.140;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_rankscore=0.611;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.212;Eigen-PC-raw=-0.004;GenoCanyon_score=0.671;GenoCanyon_score_rankscore=0.224;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=3.460;phyloP100way_vertebrate_rankscore=0.525;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.204;SiPhy_29way_logOdds_rankscore=0.421;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.527e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.384777;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179456310 rs570125591 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570125591;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179457147 rs16866406 G A 100 PASS AC=27;AF=0.213059;AN=214;NS=2504;DP=19552;EAS_AF=0.4573;AMR_AF=0.1527;AFR_AF=0.0666;EUR_AF=0.1392;SAS_AF=0.2781;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon129:c.C32390T:p.P10797L,TTN:NM_133432:exon130:c.C32765T:p.P10922L,TTN:NM_133437:exon130:c.C32966T:p.P10989L,TTN:NM_133378:exon250:c.C51881T:p.P17294L,TTN:NM_001256850:exon251:c.C54662T:p.P18221L,TTN:NM_001267550:exon301:c.C59585T:p.P19862L;1000g2015aug_all=0.213059;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866406;CLNALLELEID=56317;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.165;SIFT_converted_rankscore=0.241;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.206;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.506;MutationTaster_pred=P;MutationAssessor_score=1.525;MutationAssessor_score_rankscore=0.387;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-6.6;PROVEAN_converted_rankscore=0.920;PROVEAN_pred=D;VEST3_score=0.376;VEST3_rankscore=0.437;MetaSVM_score=-1.003;MetaSVM_rankscore=0.290;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.190;REVEL_rankscore=0.473;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.159;CADD_raw_rankscore=0.321;CADD_phred=17.24;DANN_score=0.920;DANN_rankscore=0.207;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.709;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.220;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.16;GERP++_RS_rankscore=0.704;phyloP100way_vertebrate=4.761;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.532;SiPhy_29way_logOdds_rankscore=0.553;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1799;ExAC_nontcga_AFR=0.0680;ExAC_nontcga_AMR=0.1528;ExAC_nontcga_EAS=0.4324;ExAC_nontcga_FIN=0.1479;ExAC_nontcga_NFE=0.1466;ExAC_nontcga_OTH=0.1710;ExAC_nontcga_SAS=0.2600;AF=0.1446;AF_popmax=0.4438;AF_male=0.1452;AF_female=0.1439;AF_raw=0.1447;AF_afr=0.0737;AF_sas=.;AF_amr=0.1608;AF_eas=0.4438;AF_nfe=0.1522;AF_fin=0.1486;AF_asj=0.1138;AF_oth=0.1673;non_topmed_AF_popmax=0.4417;non_neuro_AF_popmax=0.4438;non_cancer_AF_popmax=.;controls_AF_popmax=0.4330;Kaviar_AF=0.168329;Kaviar_AC=26024;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.571913;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179457446 rs72646841 A G 100 PASS AC=20;AF=0.10004;AN=214;NS=2504;DP=21902;EAS_AF=0.1796;AMR_AF=0.0504;AFR_AF=0.1346;EUR_AF=0.0447;SAS_AF=0.0634;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10004;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0622;AF_popmax=0.1671;AF_male=0.0670;AF_female=0.0563;AF_raw=0.0623;AF_afr=0.1335;AF_sas=.;AF_amr=0.0495;AF_eas=0.1671;AF_nfe=0.0251;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0386;non_topmed_AF_popmax=0.1667;non_neuro_AF_popmax=0.1671;non_cancer_AF_popmax=.;controls_AF_popmax=0.1730;Kaviar_AF=0.0093207;Kaviar_AC=1441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10004;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0622;AF_popmax=0.1671;AF_male=0.0670;AF_female=0.0563;AF_raw=0.0623;AF_afr=0.1335;AF_sas=.;AF_amr=0.0495;AF_eas=0.1671;AF_nfe=0.0251;AF_fin=0.0141;AF_asj=0.0448;AF_oth=0.0386;non_topmed_AF_popmax=0.1667;non_neuro_AF_popmax=0.1671;non_cancer_AF_popmax=.;controls_AF_popmax=0.1730;Kaviar_AF=0.0093207;Kaviar_AC=1441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179457457 rs569639812 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21450;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569639812;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.523e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.846e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569639812;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.523e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.846e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179457928 rs139656306 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20905;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon127:c.C31812A:p.S10604S,TTN:NM_133432:exon128:c.C32187A:p.S10729S,TTN:NM_133437:exon128:c.C32388A:p.S10796S,TTN:NM_133378:exon248:c.C51303A:p.S17101S,TTN:NM_001256850:exon249:c.C54084A:p.S18028S,TTN:NM_001267550:exon299:c.C59007A:p.S19669S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139656306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.506e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299100;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179458591 rs2288569 C T 100 PASS AC=27;AF=0.21246;AN=214;NS=2504;DP=20497;EAS_AF=0.4544;AMR_AF=0.1513;AFR_AF=0.0666;EUR_AF=0.1402;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon126:c.G31241A:p.R10414H,TTN:NM_133432:exon127:c.G31616A:p.R10539H,TTN:NM_133437:exon127:c.G31817A:p.R10606H,TTN:NM_133378:exon247:c.G50732A:p.R16911H,TTN:NM_001256850:exon248:c.G53513A:p.R17838H,TTN:NM_001267550:exon298:c.G58436A:p.R19479H;1000g2015aug_all=0.21246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288569;CLNALLELEID=56301;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=3.365;MutationAssessor_score_rankscore=0.914;MutationAssessor_pred=M;FATHMM_score=0.93;FATHMM_converted_rankscore=0.441;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_converted_rankscore=0.710;PROVEAN_pred=D;VEST3_score=0.175;VEST3_rankscore=0.320;MetaSVM_score=-1.027;MetaSVM_rankscore=0.213;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.463;REVEL_rankscore=0.762;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.706;CADD_raw_rankscore=0.631;CADD_phred=24.6;DANN_score=0.949;DANN_rankscore=0.252;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.983;Eigen-PC-raw=0.963;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=7.847;phyloP100way_vertebrate_rankscore=0.851;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_domain\x3bFibronectin_type_III|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bFibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000270956.1|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1791;ExAC_nontcga_AFR=0.0685;ExAC_nontcga_AMR=0.1531;ExAC_nontcga_EAS=0.4293;ExAC_nontcga_FIN=0.1475;ExAC_nontcga_NFE=0.1469;ExAC_nontcga_OTH=0.1706;ExAC_nontcga_SAS=0.2605;AF=0.1445;AF_popmax=0.4373;AF_male=0.1454;AF_female=0.1432;AF_raw=0.1446;AF_afr=0.0743;AF_sas=.;AF_amr=0.1608;AF_eas=0.4373;AF_nfe=0.1521;AF_fin=0.1501;AF_asj=0.1138;AF_oth=0.1664;non_topmed_AF_popmax=0.4350;non_neuro_AF_popmax=0.4373;non_cancer_AF_popmax=.;controls_AF_popmax=0.4312;Kaviar_AF=0.17005;Kaviar_AC=26290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.179832;ALLELE_END;VINYL_score=4 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179460433 rs55956577 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17311;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon123:c.C30453T:p.I10151I,TTN:NM_133432:exon124:c.C30828T:p.I10276I,TTN:NM_133437:exon124:c.C31029T:p.I10343I,TTN:NM_133378:exon244:c.C49944T:p.I16648I,TTN:NM_001256850:exon245:c.C52725T:p.I17575I,TTN:NM_001267550:exon295:c.C57648T:p.I19216I;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55956577;CLNALLELEID=56292;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0063;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0021;ExAC_nontcga_SAS=0.0290;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035963;Kaviar_AC=556;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.061917;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179460557 rs72646834 A T 100 PASS AC=5;AF=0.0285543;AN=214;NS=2504;DP=18770;EAS_AF=0.0605;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0422;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.0659;ExAC_nontcga_EAS=0.1145;ExAC_nontcga_FIN=0.0729;ExAC_nontcga_NFE=0.0383;ExAC_nontcga_OTH=0.0472;ExAC_nontcga_SAS=0.0323;AF=0.0246;AF_popmax=0.0577;AF_male=0.0240;AF_female=0.0252;AF_raw=0.0246;AF_afr=0.0049;AF_sas=.;AF_amr=0.0224;AF_eas=0.0577;AF_nfe=0.0254;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0303;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0577;non_cancer_AF_popmax=.;controls_AF_popmax=0.0493;Kaviar_AF=0.0235702;Kaviar_AC=3644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179462494 rs35833641 A G 100 PASS AC=50;AF=0.126997;AN=214;NS=2504;DP=20014;EAS_AF=0.0387;AMR_AF=0.1124;AFR_AF=0.0053;EUR_AF=0.3072;SAS_AF=0.2076;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon122:c.T30120C:p.H10040H,TTN:NM_133432:exon123:c.T30495C:p.H10165H,TTN:NM_133437:exon123:c.T30696C:p.H10232H,TTN:NM_133378:exon243:c.T49611C:p.H16537H,TTN:NM_001256850:exon244:c.T52392C:p.H17464H,TTN:NM_001267550:exon294:c.T57315C:p.H19105H;1000g2015aug_all=0.126997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35833641;CLNALLELEID=56285;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3001;ExAC_nontcga_ALL=0.2314;ExAC_nontcga_AFR=0.0459;ExAC_nontcga_AMR=0.0966;ExAC_nontcga_EAS=0.0347;ExAC_nontcga_FIN=0.3973;ExAC_nontcga_NFE=0.3004;ExAC_nontcga_OTH=0.2631;ExAC_nontcga_SAS=0.2133;AF=0.2347;AF_popmax=0.3239;AF_male=0.2263;AF_female=0.2453;AF_raw=0.2347;AF_afr=0.0508;AF_sas=.;AF_amr=0.1321;AF_eas=0.0433;AF_nfe=0.3239;AF_fin=0.3926;AF_asj=0.1897;AF_oth=0.3006;non_topmed_AF_popmax=0.3332;non_neuro_AF_popmax=0.3207;non_cancer_AF_popmax=.;controls_AF_popmax=0.3494;Kaviar_AF=0.234699;Kaviar_AC=36285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.777310;ALLELE_END;VINYL_score=1 GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179462580 rs527943187 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527943187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.53e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527943187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.53e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.847e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.484e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179462796 rs553667328 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18957;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553667328;CLNALLELEID=172875;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.106;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.901e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=6.374e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=7.185e-05;AF_raw=6.367e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 179463422 rs72646829 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=19113;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0012;AF=0.0050;AF_popmax=0.0083;AF_male=0.0047;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0.0007;AF_nfe=0.0080;AF_fin=0.0014;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.005912;Kaviar_AC=914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0096;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0012;AF=0.0050;AF_popmax=0.0083;AF_male=0.0047;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0.0007;AF_nfe=0.0080;AF_fin=0.0014;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.005912;Kaviar_AC=914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179463446 rs3214578 T TA 100 PASS AC=9;AF=0.0265575;AN=214;NS=2504;DP=19147;EAS_AF=0.0605;AMR_AF=0.036;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0061;AA=AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0295;ExAC_nontcga_ALL=0.0309;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0390;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0540;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0077;AF=0.0274;AF_popmax=0.0575;AF_male=0.0273;AF_female=0.0274;AF_raw=0.0272;AF_afr=0.0058;AF_sas=.;AF_amr=0.0333;AF_eas=0.0575;AF_nfe=0.0296;AF_fin=0.0536;AF_asj=0.0312;AF_oth=0.0362;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0010479;Kaviar_AC=162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0295;ExAC_nontcga_ALL=0.0309;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0390;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0540;ExAC_nontcga_NFE=0.0324;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0077;AF=0.0274;AF_popmax=0.0575;AF_male=0.0273;AF_female=0.0274;AF_raw=0.0272;AF_afr=0.0058;AF_sas=.;AF_amr=0.0333;AF_eas=0.0575;AF_nfe=0.0296;AF_fin=0.0536;AF_asj=0.0312;AF_oth=0.0362;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0492;Kaviar_AF=0.0010479;Kaviar_AC=162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179463823 rs182163713 T A 100 PASS AC=5;AF=0.00658946;AN=214;NS=2504;DP=20247;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0153;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182163713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0186;AF=0.0040;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0013;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0066;AF_fin=0;AF_asj=0;AF_oth=0.0056;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0012225;Kaviar_AC=189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182163713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0186;AF=0.0040;AF_popmax=0.0084;AF_male=0.0047;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0013;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0066;AF_fin=0;AF_asj=0;AF_oth=0.0056;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0012225;Kaviar_AC=189;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179463991 rs72646827 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19454;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0041;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon118:c.G29334A:p.T9778T,TTN:NM_133432:exon119:c.G29709A:p.T9903T,TTN:NM_133437:exon119:c.G29910A:p.T9970T,TTN:NM_133378:exon239:c.G48825A:p.T16275T,TTN:NM_001256850:exon240:c.G51606A:p.T17202T,TTN:NM_001267550:exon290:c.G56529A:p.T18843T;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646827;CLNALLELEID=56276;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0088;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0033;ExAC_nontcga_SAS=0.0067;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0086933;Kaviar_AC=1344;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.229485;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179464245 rs2288568 A G 100 PASS AC=5;AF=0.0285543;AN=214;NS=2504;DP=22646;EAS_AF=0.0605;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0285543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0225;ExAC_nontcga_ALL=0.0320;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0363;ExAC_nontcga_EAS=0.0675;ExAC_nontcga_FIN=0.0532;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0294;ExAC_nontcga_SAS=0.0309;AF=0.0246;AF_popmax=0.0581;AF_male=0.0241;AF_female=0.0254;AF_raw=0.0246;AF_afr=0.0049;AF_sas=.;AF_amr=0.0225;AF_eas=0.0581;AF_nfe=0.0255;AF_fin=0.0529;AF_asj=0.0379;AF_oth=0.0303;non_topmed_AF_popmax=0.0589;non_neuro_AF_popmax=0.0581;non_cancer_AF_popmax=.;controls_AF_popmax=0.0491;Kaviar_AF=0.0270566;Kaviar_AC=4183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179464527 rs1001238 T C 100 PASS AC=57;AF=0.51278;AN=214;NS=2504;DP=19770;EAS_AF=0.7252;AMR_AF=0.4078;AFR_AF=0.5688;EUR_AF=0.2535;SAS_AF=0.5593;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon117:c.A28906G:p.N9636D,TTN:NM_133432:exon118:c.A29281G:p.N9761D,TTN:NM_133437:exon118:c.A29482G:p.N9828D,TTN:NM_133378:exon238:c.A48397G:p.N16133D,TTN:NM_001256850:exon239:c.A51178G:p.N17060D,TTN:NM_001267550:exon289:c.A56101G:p.N18701D;1000g2015aug_all=0.51278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1001238;CLNALLELEID=56275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.945;MutationTaster_converted_rankscore=0.267;MutationTaster_pred=P;MutationAssessor_score=-0.515;MutationAssessor_score_rankscore=0.026;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=2.75;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.003;MetaSVM_score=-0.985;MetaSVM_rankscore=0.340;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.162;REVEL_rankscore=0.423;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.157;CADD_raw_rankscore=0.320;CADD_phred=17.23;DANN_score=0.932;DANN_rankscore=0.222;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.098;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.357;Eigen-PC-raw=-0.108;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.125;phyloP100way_vertebrate_rankscore=0.712;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=14.793;SiPhy_29way_logOdds_rankscore=0.693;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000204311.7|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2261;ExAC_nontcga_ALL=0.3649;ExAC_nontcga_AFR=0.5456;ExAC_nontcga_AMR=0.4346;ExAC_nontcga_EAS=0.7037;ExAC_nontcga_FIN=0.2783;ExAC_nontcga_NFE=0.2354;ExAC_nontcga_OTH=0.3406;ExAC_nontcga_SAS=0.5322;AF=0.3499;AF_popmax=0.6995;AF_male=0.3568;AF_female=0.3413;AF_raw=0.3505;AF_afr=0.5367;AF_sas=.;AF_amr=0.4125;AF_eas=0.6995;AF_nfe=0.2300;AF_fin=0.2699;AF_asj=0.2414;AF_oth=0.3029;non_topmed_AF_popmax=0.6978;non_neuro_AF_popmax=0.6995;non_cancer_AF_popmax=.;controls_AF_popmax=0.6843;Kaviar_AF=0.340966;Kaviar_AC=52714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.386272;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179464637 rs72646825 A T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646825;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0040;AF_popmax=0.0021;AF_male=0.0032;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179465706 rs140714512 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon116:c.T28730A:p.L9577Q,TTN:NM_133432:exon117:c.T29105A:p.L9702Q,TTN:NM_133437:exon117:c.T29306A:p.L9769Q,TTN:NM_133378:exon237:c.T48221A:p.L16074Q,TTN:NM_001256850:exon238:c.T51002A:p.L17001Q,TTN:NM_001267550:exon288:c.T55925A:p.L18642Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140714512;CLNALLELEID=172879;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_rankscore=0.464;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.678;Polyphen2_HVAR_rankscore=0.516;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=0.96;MutationAssessor_score_rankscore=0.240;MutationAssessor_pred=L;FATHMM_score=0.48;FATHMM_converted_rankscore=0.560;FATHMM_pred=T;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.640;PROVEAN_pred=D;VEST3_score=0.426;VEST3_rankscore=0.596;MetaSVM_score=-0.857;MetaSVM_rankscore=0.515;MetaSVM_pred=T;MetaLR_score=0.179;MetaLR_rankscore=0.526;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.590;M-CAP_pred=D;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.091;CADD_raw_rankscore=0.199;CADD_phred=11.17;DANN_score=0.772;DANN_rankscore=0.114;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_rankscore=0.672;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.301;Eigen-PC-raw=0.259;GenoCanyon_score=0.859;GenoCanyon_score_rankscore=0.252;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.34;GERP++_RS_rankscore=0.511;phyloP100way_vertebrate=3.582;phyloP100way_vertebrate_rankscore=0.534;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.749;phastCons100way_vertebrate_rankscore=0.289;phastCons20way_mammalian=0.336;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=3.626;SiPhy_29way_logOdds_rankscore=0.076;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0004592;Kaviar_AC=71;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.204063;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179466859 rs72646819 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18768;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon112:c.T27944C:p.I9315T,TTN:NM_133432:exon113:c.T28319C:p.I9440T,TTN:NM_133437:exon113:c.T28520C:p.I9507T,TTN:NM_133378:exon233:c.T47435C:p.I15812T,TTN:NM_001256850:exon234:c.T50216C:p.I16739T,TTN:NM_001267550:exon284:c.T55139C:p.I18380T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646819;CLNALLELEID=56266;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.791;Polyphen2_HDIV_rankscore=0.427;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.212;Polyphen2_HVAR_rankscore=0.357;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.477;MutationTaster_pred=D;MutationAssessor_score=1.13;MutationAssessor_score_rankscore=0.290;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.357;VEST3_rankscore=0.528;MetaSVM_score=-0.560;MetaSVM_rankscore=0.664;MetaSVM_pred=T;MetaLR_score=0.232;MetaLR_rankscore=0.598;MetaLR_pred=T;M-CAP_score=0.096;M-CAP_rankscore=0.766;M-CAP_pred=D;REVEL_score=0.332;REVEL_rankscore=0.658;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.502;CADD_raw_rankscore=0.362;CADD_phred=19.48;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.996;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.500;Eigen-PC-raw=0.595;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=8.863;phyloP100way_vertebrate_rankscore=0.918;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.100;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.753e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.266e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.257e-05;AF=6.375e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.970412;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179467070 rs553295928 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon111:c.T27864C:p.N9288N,TTN:NM_133432:exon112:c.T28239C:p.N9413N,TTN:NM_133437:exon112:c.T28440C:p.N9480N,TTN:NM_133378:exon232:c.T47355C:p.N15785N,TTN:NM_001256850:exon233:c.T50136C:p.N16712N,TTN:NM_001267550:exon283:c.T55059C:p.N18353N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553295928;CLNALLELEID=391970;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.81e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.385e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.808645;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179467226 rs190830121 G C 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15658;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon111:c.C27708G:p.G9236G,TTN:NM_133432:exon112:c.C28083G:p.G9361G,TTN:NM_133437:exon112:c.C28284G:p.G9428G,TTN:NM_133378:exon232:c.C47199G:p.G15733G,TTN:NM_001256850:exon233:c.C49980G:p.G16660G,TTN:NM_001267550:exon283:c.C54903G:p.G18301G;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190830121;CLNALLELEID=173864;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0007891;Kaviar_AC=122;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.876456;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179468704 rs201412693 A G 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=17424;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon110:c.T27515C:p.L9172P,TTN:NM_133432:exon111:c.T27890C:p.L9297P,TTN:NM_133437:exon111:c.T28091C:p.L9364P,TTN:NM_133378:exon231:c.T47006C:p.L15669P,TTN:NM_001256850:exon232:c.T49787C:p.L16596P,TTN:NM_001267550:exon282:c.T54710C:p.L18237P;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201412693;CLNALLELEID=189591;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.064;SIFT_converted_rankscore=0.450;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_rankscore=0.154;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.465;MutationTaster_pred=D;MutationAssessor_score=1.09;MutationAssessor_score_rankscore=0.274;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_converted_rankscore=0.577;FATHMM_pred=T;PROVEAN_score=-3.7;PROVEAN_converted_rankscore=0.718;PROVEAN_pred=D;VEST3_score=0.275;VEST3_rankscore=0.390;MetaSVM_score=-1.013;MetaSVM_rankscore=0.260;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_rankscore=0.392;MetaLR_pred=T;M-CAP_score=0.067;M-CAP_rankscore=0.701;M-CAP_pred=D;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.896;CADD_raw_rankscore=0.289;CADD_phred=15.56;DANN_score=0.878;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.679;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.134;Eigen-PC-raw=0.053;GenoCanyon_score=0.251;GenoCanyon_score_rankscore=0.187;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.92;GERP++_RS_rankscore=0.640;phyloP100way_vertebrate=5.347;phyloP100way_vertebrate_rankscore=0.655;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=9.695;SiPhy_29way_logOdds_rankscore=0.391;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0035;AF_male=0.0008;AF_female=0.0012;AF_raw=0.0010;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005563;Kaviar_AC=86;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.668818;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179469386 rs10497518 A G 100 PASS AC=12;AF=0.119209;AN=214;NS=2504;DP=19333;EAS_AF=0.253;AMR_AF=0.0504;AFR_AF=0.1271;EUR_AF=0.0497;SAS_AF=0.091;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.119209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0358;ExAC_nontcga_ALL=0.0736;ExAC_nontcga_AFR=0.1236;ExAC_nontcga_AMR=0.0488;ExAC_nontcga_EAS=0.2299;ExAC_nontcga_FIN=0.0906;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0647;ExAC_nontcga_SAS=0.0943;AF=0.0779;AF_popmax=0.2167;AF_male=0.0810;AF_female=0.0741;AF_raw=0.0780;AF_afr=0.1274;AF_sas=.;AF_amr=0.0426;AF_eas=0.2167;AF_nfe=0.0365;AF_fin=0.0906;AF_asj=0.0586;AF_oth=0.0671;non_topmed_AF_popmax=0.2182;non_neuro_AF_popmax=0.2167;non_cancer_AF_popmax=.;controls_AF_popmax=0.1851;Kaviar_AF=0.0654519;Kaviar_AC=10119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179470047 rs2303833 C A 100 PASS AC=7;AF=0.0832668;AN=214;NS=2504;DP=22171;EAS_AF=0.1558;AMR_AF=0.0231;AFR_AF=0.1263;EUR_AF=0.0209;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0832668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0133;ExAC_nontcga_ALL=0.0428;ExAC_nontcga_AFR=0.1295;ExAC_nontcga_AMR=0.0129;ExAC_nontcga_EAS=0.1370;ExAC_nontcga_FIN=0.0399;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0483;ExAC_nontcga_SAS=0.0738;AF=0.0518;AF_popmax=0.1262;AF_male=0.0547;AF_female=0.0482;AF_raw=0.0519;AF_afr=0.1215;AF_sas=.;AF_amr=0.0189;AF_eas=0.1262;AF_nfe=0.0117;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0378;non_topmed_AF_popmax=0.1274;non_neuro_AF_popmax=0.1262;non_cancer_AF_popmax=.;controls_AF_popmax=0.1111;Kaviar_AF=0.0332143;Kaviar_AC=5135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179472223 rs72646809 A G 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=20475;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.T25997C:p.I8666T,TTN:NM_133432:exon106:c.T26372C:p.I8791T,TTN:NM_133437:exon106:c.T26573C:p.I8858T,TTN:NM_133378:exon226:c.T45488C:p.I15163T,TTN:NM_001256850:exon227:c.T48269C:p.I16090T,TTN:NM_001267550:exon277:c.T53192C:p.I17731T;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646809;CLNALLELEID=56239;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.275;MutationAssessor_score_rankscore=0.982;MutationAssessor_pred=H;FATHMM_score=-1.28;FATHMM_converted_rankscore=0.794;FATHMM_pred=T;PROVEAN_score=-3.74;PROVEAN_converted_rankscore=0.749;PROVEAN_pred=D;VEST3_score=0.311;VEST3_rankscore=0.667;MetaSVM_score=0.530;MetaSVM_rankscore=0.910;MetaSVM_pred=D;MetaLR_score=0.634;MetaLR_rankscore=0.872;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.801;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.046;CADD_raw_rankscore=0.307;CADD_phred=16.50;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.953;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.023;Eigen-PC-raw=0.962;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=8.889;phyloP100way_vertebrate_rankscore=0.920;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.494;SiPhy_29way_logOdds_rankscore=0.840;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0390;ExAC_nontcga_NFE=0.0171;ExAC_nontcga_OTH=0.0188;ExAC_nontcga_SAS=0.0100;AF=0.0137;AF_popmax=0.0147;AF_male=0.0123;AF_female=0.0154;AF_raw=0.0137;AF_afr=0.0017;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0406;AF_asj=0.0207;AF_oth=0.0285;non_topmed_AF_popmax=0.0159;non_neuro_AF_popmax=0.0150;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0122832;Kaviar_AC=1899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.157111;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472292 rs2303832 T A 100 PASS AC=3;AF=0.0295527;AN=214;NS=2504;DP=18802;EAS_AF=0.0992;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.0239;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.A25928T:p.K8643I,TTN:NM_133432:exon106:c.A26303T:p.K8768I,TTN:NM_133437:exon106:c.A26504T:p.K8835I,TTN:NM_133378:exon226:c.A45419T:p.K15140I,TTN:NM_001256850:exon227:c.A48200T:p.K16067I,TTN:NM_001267550:exon277:c.A53123T:p.K17708I;1000g2015aug_all=0.0295527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303832;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.352;SIFT_converted_rankscore=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.229;MutationTaster_pred=N;MutationAssessor_score=3.04;MutationAssessor_score_rankscore=0.868;MutationAssessor_pred=M;FATHMM_score=0.6;FATHMM_converted_rankscore=0.537;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.303;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.156;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.037;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.140;REVEL_rankscore=0.381;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.552;CADD_raw_rankscore=0.248;CADD_phred=13.59;DANN_score=0.888;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.366;fathmm-MKL_coding_rankscore=0.253;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.273;Eigen-PC-raw=-0.230;GenoCanyon_score=0.011;GenoCanyon_score_rankscore=0.121;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.531;GERP++_RS_rankscore=0.162;phyloP100way_vertebrate=1.876;phyloP100way_vertebrate_rankscore=0.390;phyloP20way_mammalian=0.124;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.890;phastCons100way_vertebrate_rankscore=0.310;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=11.796;SiPhy_29way_logOdds_rankscore=0.512;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0204;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0348;ExAC_nontcga_EAS=0.1049;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0261;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0070;AF=0.0248;AF_popmax=0.0905;AF_male=0.0251;AF_female=0.0245;AF_raw=0.0249;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0905;AF_nfe=0.0232;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0792;Kaviar_AF=0.0269919;Kaviar_AC=4173;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.739847;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472319 rs72646808 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=16817;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon105:c.G25901A:p.R8634H,TTN:NM_133432:exon106:c.G26276A:p.R8759H,TTN:NM_133437:exon106:c.G26477A:p.R8826H,TTN:NM_133378:exon226:c.G45392A:p.R15131H,TTN:NM_001256850:exon227:c.G48173A:p.R16058H,TTN:NM_001267550:exon277:c.G53096A:p.R17699H;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646808;CLNALLELEID=56235;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.971;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.25;MutationAssessor_score_rankscore=0.319;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-3.81;PROVEAN_converted_rankscore=0.740;PROVEAN_pred=D;VEST3_score=0.223;VEST3_rankscore=0.425;MetaSVM_score=-0.252;MetaSVM_rankscore=0.763;MetaSVM_pred=T;MetaLR_score=0.407;MetaLR_rankscore=0.757;MetaLR_pred=T;M-CAP_score=0.037;M-CAP_rankscore=0.572;M-CAP_pred=D;REVEL_score=0.365;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.630;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.921;DANN_rankscore=0.209;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.569;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.654;Eigen-PC-raw=0.682;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=4.491;phyloP100way_vertebrate_rankscore=0.598;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=20.478;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0018;AF_male=0.0010;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.771092;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179472693 rs2303831 A G 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=19054;EAS_AF=0.0992;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon104:c.T25626C:p.D8542D,TTN:NM_133432:exon105:c.T26001C:p.D8667D,TTN:NM_133437:exon105:c.T26202C:p.D8734D,TTN:NM_133378:exon225:c.T45117C:p.D15039D,TTN:NM_001256850:exon226:c.T47898C:p.D15966D,TTN:NM_001267550:exon276:c.T52821C:p.D17607D;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303831;CLNALLELEID=56230;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0349;ExAC_nontcga_EAS=0.1059;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0263;ExAC_nontcga_OTH=0.0319;ExAC_nontcga_SAS=0.0097;AF=0.0248;AF_popmax=0.0903;AF_male=0.0251;AF_female=0.0244;AF_raw=0.0249;AF_afr=0.0049;AF_sas=.;AF_amr=0.0236;AF_eas=0.0903;AF_nfe=0.0231;AF_fin=0.0518;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0905;non_neuro_AF_popmax=0.0903;non_cancer_AF_popmax=.;controls_AF_popmax=0.0779;Kaviar_AF=0.0282079;Kaviar_AC=4361;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031019;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179472825 rs72646807 T C 100 PASS AC=14;AF=0.0107827;AN=214;NS=2504;DP=21267;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0015;EUR_AF=0.0328;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646807;CLNALLELEID=141499;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0166;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0199;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0246;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0083;AF=0.0133;AF_popmax=0.0259;AF_male=0.0138;AF_female=0.0128;AF_raw=0.0133;AF_afr=0.0036;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0208;AF_fin=0.0029;AF_asj=0.0483;AF_oth=0.0184;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0307;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179473238 rs530961925 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21524;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530961925;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179473705 rs577545799 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19407;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577545799;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +2 179474075 rs530304166 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon101:c.G24767A:p.R8256H,TTN:NM_133432:exon102:c.G25142A:p.R8381H,TTN:NM_133437:exon102:c.G25343A:p.R8448H,TTN:NM_133378:exon222:c.G44258A:p.R14753H,TTN:NM_001256850:exon223:c.G47039A:p.R15680H,TTN:NM_001267550:exon273:c.G51962A:p.R17321H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530304166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.026;SIFT_converted_rankscore=0.469;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.68;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.662;PROVEAN_pred=D;VEST3_score=0.266;VEST3_rankscore=0.432;MetaSVM_score=-0.404;MetaSVM_rankscore=0.719;MetaSVM_pred=T;MetaLR_score=0.331;MetaLR_rankscore=0.699;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.677;M-CAP_pred=D;REVEL_score=0.384;REVEL_rankscore=0.705;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.675;CADD_raw_rankscore=0.499;CADD_phred=23.3;DANN_score=0.937;DANN_rankscore=0.231;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.923;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.798;Eigen-PC-raw=0.762;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.576;phyloP100way_vertebrate_rankscore=0.816;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.918;phastCons20way_mammalian_rankscore=0.393;SiPhy_29way_logOdds=19.880;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.918e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.2e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.878535;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179474466 rs2288566 C T 100 PASS AC=3;AF=0.0299521;AN=214;NS=2504;DP=19383;EAS_AF=0.0972;AMR_AF=0.0259;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.G24489A:p.A8163A,TTN:NM_133432:exon101:c.G24864A:p.A8288A,TTN:NM_133437:exon101:c.G25065A:p.A8355A,TTN:NM_133378:exon221:c.G43980A:p.A14660A,TTN:NM_001256850:exon222:c.G46761A:p.A15587A,TTN:NM_001267550:exon272:c.G51684A:p.A17228A;1000g2015aug_all=0.0299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288566;CLNALLELEID=56221;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0204;ExAC_nontcga_ALL=0.0297;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.1018;ExAC_nontcga_FIN=0.0520;ExAC_nontcga_NFE=0.0263;ExAC_nontcga_OTH=0.0309;ExAC_nontcga_SAS=0.0073;AF=0.0245;AF_popmax=0.0863;AF_male=0.0248;AF_female=0.0241;AF_raw=0.0245;AF_afr=0.0046;AF_sas=.;AF_amr=0.0225;AF_eas=0.0863;AF_nfe=0.0232;AF_fin=0.0518;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0877;non_neuro_AF_popmax=0.0863;non_cancer_AF_popmax=.;controls_AF_popmax=0.0756;Kaviar_AF=0.0266361;Kaviar_AC=4118;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156662;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179474668 rs16866412 G A 100 PASS AC=7;AF=0.0726837;AN=214;NS=2504;DP=21482;EAS_AF=0.1558;AMR_AF=0.0216;AFR_AF=0.087;EUR_AF=0.0209;SAS_AF=0.0573;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.C24287T:p.A8096V,TTN:NM_133432:exon101:c.C24662T:p.A8221V,TTN:NM_133437:exon101:c.C24863T:p.A8288V,TTN:NM_133378:exon221:c.C43778T:p.A14593V,TTN:NM_001256850:exon222:c.C46559T:p.A15520V,TTN:NM_001267550:exon272:c.C51482T:p.A17161V;1000g2015aug_all=0.0726837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866412;CLNALLELEID=56218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.609;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.535;Polyphen2_HVAR_rankscore=0.542;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.479;MutationTaster_pred=P;MutationAssessor_score=1.625;MutationAssessor_score_rankscore=0.417;MutationAssessor_pred=L;FATHMM_score=0.3;FATHMM_converted_rankscore=0.588;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_converted_rankscore=0.580;PROVEAN_pred=D;VEST3_score=0.247;VEST3_rankscore=0.367;MetaSVM_score=-1.155;MetaSVM_rankscore=0.009;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.005;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.305;REVEL_rankscore=0.630;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.431;CADD_raw_rankscore=0.470;CADD_phred=23.0;DANN_score=0.976;DANN_rankscore=0.344;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.979;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.723;Eigen-PC-raw=0.763;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=7.948;phyloP100way_vertebrate_rankscore=0.872;phyloP20way_mammalian=0.075;phyloP20way_mammalian_rankscore=0.182;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.936;phastCons20way_mammalian_rankscore=0.409;SiPhy_29way_logOdds=19.842;SiPhy_29way_logOdds_rankscore=0.967;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0131;ExAC_nontcga_ALL=0.0361;ExAC_nontcga_AFR=0.0759;ExAC_nontcga_AMR=0.0121;ExAC_nontcga_EAS=0.1289;ExAC_nontcga_FIN=0.0384;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0377;ExAC_nontcga_SAS=0.0596;AF=0.0392;AF_popmax=0.1303;AF_male=0.0414;AF_female=0.0366;AF_raw=0.0393;AF_afr=0.0763;AF_sas=.;AF_amr=0.0189;AF_eas=0.1303;AF_nfe=0.0114;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0331;non_topmed_AF_popmax=0.1316;non_neuro_AF_popmax=0.1303;non_cancer_AF_popmax=.;controls_AF_popmax=0.1102;Kaviar_AF=0.0323605;Kaviar_AC=5003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.569477;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179474787 rs140497184 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=23124;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140497184;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036804;Kaviar_AC=569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477267 rs36043230 T G 100 PASS AC=3;AF=0.00638978;AN=214;NS=2504;DP=19436;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0169;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon94:c.A22790C:p.N7597T,TTN:NM_133432:exon95:c.A23165C:p.N7722T,TTN:NM_133437:exon95:c.A23366C:p.N7789T,TTN:NM_133378:exon215:c.A42281C:p.N14094T,TTN:NM_001256850:exon216:c.A45062C:p.N15021T,TTN:NM_001267550:exon266:c.A49985C:p.N16662T;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36043230;CLNALLELEID=56202;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.169;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_rankscore=0.527;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.715;Polyphen2_HVAR_rankscore=0.528;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.428;MutationTaster_pred=D;MutationAssessor_score=2.025;MutationAssessor_score_rankscore=0.556;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.580;FATHMM_pred=T;PROVEAN_score=-3.93;PROVEAN_converted_rankscore=0.740;PROVEAN_pred=D;VEST3_score=0.203;VEST3_rankscore=0.356;MetaSVM_score=-0.719;MetaSVM_rankscore=0.595;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_rankscore=0.450;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.328;REVEL_rankscore=0.654;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.693;CADD_raw_rankscore=0.265;CADD_phred=14.37;DANN_score=0.911;DANN_rankscore=0.198;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.566;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.512;Eigen-PC-raw=0.537;GenoCanyon_score=0.645;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=2.689;phyloP100way_vertebrate_rankscore=0.464;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.977;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0153;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0232;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0080;AF=0.0139;AF_popmax=0.0202;AF_male=0.0146;AF_female=0.0130;AF_raw=0.0138;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0202;AF_fin=0.0147;AF_asj=0.0621;AF_oth=0.0231;non_topmed_AF_popmax=0.0169;non_neuro_AF_popmax=0.0205;non_cancer_AF_popmax=.;controls_AF_popmax=0.0147;Kaviar_AF=0.015472;Kaviar_AC=2392;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.093837;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477332 rs542590438;rs540117024;rs544337750 ATT AT 100 PASS AC=55;AF=0.511182;AN=214;NS=2504;DP=20485;EAS_AF=0.7222;AMR_AF=0.4135;AFR_AF=0.5628;EUR_AF=0.2535;SAS_AF=0.5583;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=12 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 +2 179477435 rs554001139 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20046;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554001139;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477476 rs72677248 T G 100 PASS AC=5;AF=0.0361422;AN=214;NS=2504;DP=18795;EAS_AF=0.0982;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0361422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0219;ExAC_nontcga_ALL=0.0386;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0421;ExAC_nontcga_EAS=0.1192;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0318;ExAC_nontcga_OTH=0.0343;ExAC_nontcga_SAS=0.0329;AF=0.0260;AF_popmax=0.0918;AF_male=0.0262;AF_female=0.0258;AF_raw=0.0260;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0918;AF_nfe=0.0251;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0921;non_neuro_AF_popmax=0.0918;non_cancer_AF_popmax=.;controls_AF_popmax=0.0795;Kaviar_AF=0.031041;Kaviar_AC=4799;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477529 rs55663050 C G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17879;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55663050;CLNALLELEID=56201;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.197;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.295;MutationAssessor_score_rankscore=0.326;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.511;PROVEAN_pred=N;VEST3_score=0.175;VEST3_rankscore=0.297;MetaSVM_score=-0.155;MetaSVM_rankscore=0.788;MetaSVM_pred=T;MetaLR_score=0.443;MetaLR_rankscore=0.780;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.233;REVEL_rankscore=0.540;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.501;CADD_raw_rankscore=0.362;CADD_phred=19.47;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.873;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.782;Eigen-PC-raw=0.791;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.85;SiPhy_29way_logOdds_rankscore=0.967;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.127878;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179477717 rs2115558 A G 100 PASS AC=7;AF=0.0736821;AN=214;NS=2504;DP=19169;EAS_AF=0.1577;AMR_AF=0.0231;AFR_AF=0.0885;EUR_AF=0.0209;SAS_AF=0.0573;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.T22536C:p.H7512H,TTN:NM_133432:exon94:c.T22911C:p.H7637H,TTN:NM_133437:exon94:c.T23112C:p.H7704H,TTN:NM_133378:exon214:c.T42027C:p.H14009H,TTN:NM_001256850:exon215:c.T44808C:p.H14936H,TTN:NM_001267550:exon265:c.T49731C:p.H16577H;1000g2015aug_all=0.0736821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2115558;CLNALLELEID=56200;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0362;ExAC_nontcga_AFR=0.0765;ExAC_nontcga_AMR=0.0120;ExAC_nontcga_EAS=0.1319;ExAC_nontcga_FIN=0.0388;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0363;ExAC_nontcga_SAS=0.0592;AF=0.0394;AF_popmax=0.1323;AF_male=0.0415;AF_female=0.0369;AF_raw=0.0394;AF_afr=0.0770;AF_sas=.;AF_amr=0.0189;AF_eas=0.1323;AF_nfe=0.0114;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0322;non_topmed_AF_popmax=0.1335;non_neuro_AF_popmax=0.1323;non_cancer_AF_popmax=.;controls_AF_popmax=0.1116;Kaviar_AF=0.0325352;Kaviar_AC=5030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.645943;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179477802 rs568516434 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19132;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs568516434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0267;dbscSNV_RF_SCORE=0.274;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.862e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.547e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.501613;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179478639 rs146163169 T A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18166;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon91:c.A22176T:p.L7392L,TTN:NM_133432:exon92:c.A22551T:p.L7517L,TTN:NM_133437:exon92:c.A22752T:p.L7584L,TTN:NM_133378:exon212:c.A41667T:p.L13889L,TTN:NM_001256850:exon213:c.A44448T:p.L14816L,TTN:NM_001267550:exon263:c.A49371T:p.L16457L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146163169;CLNALLELEID=56193;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.081437;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179478829 rs547225882 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20092;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon90:c.G22100A:p.G7367D,TTN:NM_133432:exon91:c.G22475A:p.G7492D,TTN:NM_133437:exon91:c.G22676A:p.G7559D,TTN:NM_133378:exon211:c.G41591A:p.G13864D,TTN:NM_001256850:exon212:c.G44372A:p.G14791D,TTN:NM_001267550:exon262:c.G49295A:p.G16432D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547225882;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.935;MutationAssessor_score_rankscore=0.964;MutationAssessor_pred=H;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-5.41;PROVEAN_converted_rankscore=0.860;PROVEAN_pred=D;VEST3_score=0.541;VEST3_rankscore=0.697;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.618;MetaLR_rankscore=0.865;MetaLR_pred=D;M-CAP_score=0.037;M-CAP_rankscore=0.574;M-CAP_pred=D;REVEL_score=0.642;REVEL_rankscore=0.866;MutPred_score=0.9;MutPred_rankscore=0.978;CADD_raw=3.307;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=0.881;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.871;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.091;Eigen-PC-raw=1.026;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.659;SiPhy_29way_logOdds_rankscore=0.996;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.888834;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179479118 rs200669885 A AT 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=21974;EAS_AF=0.1002;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=?|TTTTTTTT|TTTTTTTTT|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200669885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0.0361;ExAC_nontcga_EAS=0.1058;ExAC_nontcga_FIN=0.0523;ExAC_nontcga_NFE=0.0277;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0304;AF=0.0258;AF_popmax=0.0899;AF_male=0.0261;AF_female=0.0255;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0238;AF_eas=0.0899;AF_nfe=0.0251;AF_fin=0.0521;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0914;non_neuro_AF_popmax=0.0899;non_cancer_AF_popmax=.;controls_AF_popmax=0.0780;Kaviar_AF=0.0009444;Kaviar_AC=146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179479245 rs72677244 C T 100 PASS AC=7;AF=0.072484;AN=214;NS=2504;DP=18504;EAS_AF=0.1567;AMR_AF=0.0231;AFR_AF=0.0847;EUR_AF=0.0209;SAS_AF=0.0573;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon89:c.G21801A:p.E7267E,TTN:NM_133432:exon90:c.G22176A:p.E7392E,TTN:NM_133437:exon90:c.G22377A:p.E7459E,TTN:NM_133378:exon210:c.G41292A:p.E13764E,TTN:NM_001256850:exon211:c.G44073A:p.E14691E,TTN:NM_001267550:exon261:c.G48996A:p.E16332E;1000g2015aug_all=0.072484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677244;CLNALLELEID=56191;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0356;ExAC_nontcga_AFR=0.0724;ExAC_nontcga_AMR=0.0119;ExAC_nontcga_EAS=0.1268;ExAC_nontcga_FIN=0.0388;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0378;ExAC_nontcga_SAS=0.0602;AF=0.0377;AF_popmax=0.1268;AF_male=0.0394;AF_female=0.0355;AF_raw=0.0378;AF_afr=0.0719;AF_sas=.;AF_amr=0.0165;AF_eas=0.1268;AF_nfe=0.0113;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0322;non_topmed_AF_popmax=0.1279;non_neuro_AF_popmax=0.1268;non_cancer_AF_popmax=.;controls_AF_popmax=0.1091;Kaviar_AF=0.0318883;Kaviar_AC=4930;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166193;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179479741 rs16866416 G A 100 PASS AC=4;AF=0.0938498;AN=214;NS=2504;DP=19519;EAS_AF=0.0228;AMR_AF=0.1513;AFR_AF=0.0998;EUR_AF=0.0328;SAS_AF=0.181;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866416;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0209;ExAC_nontcga_ALL=0.0850;ExAC_nontcga_AFR=0.0950;ExAC_nontcga_AMR=0.2304;ExAC_nontcga_EAS=0.0239;ExAC_nontcga_FIN=0.0657;ExAC_nontcga_NFE=0.0314;ExAC_nontcga_OTH=0.0776;ExAC_nontcga_SAS=0.1770;AF=0.0491;AF_popmax=0.1647;AF_male=0.0495;AF_female=0.0486;AF_raw=0.0493;AF_afr=0.0880;AF_sas=.;AF_amr=0.1647;AF_eas=0.0278;AF_nfe=0.0227;AF_fin=0.0530;AF_asj=0.0310;AF_oth=0.0441;non_topmed_AF_popmax=0.1700;non_neuro_AF_popmax=0.1673;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.0536604;Kaviar_AC=8296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482089 rs72677237 C T 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=19260;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677237;CLNALLELEID=56180;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.44;MutationAssessor_score_rankscore=0.710;MutationAssessor_pred=M;FATHMM_score=0.48;FATHMM_converted_rankscore=0.560;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_converted_rankscore=0.674;PROVEAN_pred=D;VEST3_score=0.313;VEST3_rankscore=0.501;MetaSVM_score=-0.422;MetaSVM_rankscore=0.713;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_rankscore=0.664;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.368;REVEL_rankscore=0.691;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.000;CADD_raw_rankscore=0.538;CADD_phred=23.6;DANN_score=0.955;DANN_rankscore=0.266;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.849;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.893;Eigen-PC-raw=0.889;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.351;SiPhy_29way_logOdds_rankscore=0.988;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0157;ExAC_nontcga_OTH=0.0174;ExAC_nontcga_SAS=0.0143;AF=0.0042;AF_popmax=0.0071;AF_male=0.0036;AF_female=0.0050;AF_raw=0.0042;AF_afr=0.0007;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0067;AF_fin=0.0009;AF_asj=0.0276;AF_oth=0.0055;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.383064;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179482280 rs571241788 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18902;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571241788;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.043e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.665e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482309 rs3835071 CAATT C 100 PASS AC=7;AF=0.081869;AN=214;NS=2504;DP=20657;EAS_AF=0.1548;AMR_AF=0.0216;AFR_AF=0.1225;EUR_AF=0.0209;SAS_AF=0.0573;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0501;AF_popmax=0.1260;AF_male=0.0529;AF_female=0.0465;AF_raw=0.0503;AF_afr=0.1155;AF_sas=.;AF_amr=0.0165;AF_eas=0.1260;AF_nfe=0.0116;AF_fin=0.0383;AF_asj=0.0207;AF_oth=0.0368;non_topmed_AF_popmax=0.1272;non_neuro_AF_popmax=0.1260;non_cancer_AF_popmax=.;controls_AF_popmax=0.1071;Kaviar_AF=0.0056862;Kaviar_AC=148;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179482533 rs146181477 G T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20384;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon81:c.C20350A:p.P6784T,TTN:NM_133432:exon82:c.C20725A:p.P6909T,TTN:NM_133437:exon82:c.C20926A:p.P6976T,TTN:NM_133378:exon202:c.C39841A:p.P13281T,TTN:NM_001256850:exon203:c.C42622A:p.P14208T,TTN:NM_001267550:exon253:c.C47545A:p.P15849T;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146181477;CLNALLELEID=56178;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.512;SIFT_converted_rankscore=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.255;Polyphen2_HDIV_rankscore=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.265;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.814;MutationTaster_converted_rankscore=0.304;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=0.74;FATHMM_converted_rankscore=0.505;FATHMM_pred=T;PROVEAN_score=-3.86;PROVEAN_converted_rankscore=0.750;PROVEAN_pred=D;VEST3_score=0.276;VEST3_rankscore=0.334;MetaSVM_score=-0.891;MetaSVM_rankscore=0.489;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.435;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.152;REVEL_rankscore=0.405;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.986;CADD_raw_rankscore=0.299;CADD_phred=16.12;DANN_score=0.894;DANN_rankscore=0.182;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.636;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.183;Eigen-PC-raw=0.350;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.54;GERP++_RS_rankscore=0.828;phyloP100way_vertebrate=3.839;phyloP100way_vertebrate_rankscore=0.553;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.841;SiPhy_29way_logOdds_rankscore=0.967;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0232;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036804;Kaviar_AC=569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.907411;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482852 rs150892352 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=24949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150892352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N\x3bTTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150892352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482937 rs72677232 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=23190;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon80:c.G20053A:p.V6685I,TTN:NM_133432:exon81:c.G20428A:p.V6810I,TTN:NM_133437:exon81:c.G20629A:p.V6877I,TTN:NM_133378:exon201:c.G39544A:p.V13182I,TTN:NM_001256850:exon202:c.G42325A:p.V14109I,TTN:NM_001267550:exon252:c.G47248A:p.V15750I;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677232;CLNALLELEID=56173;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.069;SIFT_converted_rankscore=0.355;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.978;Polyphen2_HVAR_rankscore=0.725;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.705;MutationAssessor_score_rankscore=0.444;MutationAssessor_pred=L;FATHMM_score=0.53;FATHMM_converted_rankscore=0.551;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_converted_rankscore=0.219;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.166;MetaSVM_score=-0.609;MetaSVM_rankscore=0.645;MetaSVM_pred=T;MetaLR_score=0.221;MetaLR_rankscore=0.584;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.321;M-CAP_pred=T;REVEL_score=0.206;REVEL_rankscore=0.499;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.837;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.855;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.769;Eigen-PC-raw=0.793;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=7.792;phyloP100way_vertebrate_rankscore=0.843;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.982;SiPhy_29way_logOdds_rankscore=0.973;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=8.964e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0017;AF_popmax=0.0026;AF_male=0.0016;AF_female=0.0018;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0017;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0022;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0018046;Kaviar_AC=279;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.210362;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179482994 rs72677231 G A 100 PASS AC=4;AF=0.00139776;AN=214;NS=2504;DP=21500;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon80:c.C19996T:p.R6666C,TTN:NM_133432:exon81:c.C20371T:p.R6791C,TTN:NM_133437:exon81:c.C20572T:p.R6858C,TTN:NM_133378:exon201:c.C39487T:p.R13163C,TTN:NM_001256850:exon202:c.C42268T:p.R14090C,TTN:NM_001267550:exon252:c.C47191T:p.R15731C;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677231;CLNALLELEID=56172;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.98;MutationAssessor_score_rankscore=0.967;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_converted_rankscore=0.608;FATHMM_pred=T;PROVEAN_score=-6.7;PROVEAN_converted_rankscore=0.925;PROVEAN_pred=D;VEST3_score=0.433;VEST3_rankscore=0.712;MetaSVM_score=0.361;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.500;MetaLR_rankscore=0.811;MetaLR_pred=D;M-CAP_score=0.069;M-CAP_rankscore=0.708;M-CAP_pred=D;REVEL_score=0.560;REVEL_rankscore=0.822;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.977;CADD_raw_rankscore=0.418;CADD_phred=22.2;DANN_score=0.770;DANN_rankscore=0.113;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.913;Eigen-PC-raw=0.790;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=5.169;phyloP100way_vertebrate_rankscore=0.646;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=19.982;SiPhy_29way_logOdds_rankscore=0.973;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0024;AF_popmax=0.0038;AF_male=0.0027;AF_female=0.0019;AF_raw=0.0024;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0024644;Kaviar_AC=381;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.859568;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +2 179483040 rs553017488 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20280;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon80:c.G19950A:p.E6650E,TTN:NM_133432:exon81:c.G20325A:p.E6775E,TTN:NM_133437:exon81:c.G20526A:p.E6842E,TTN:NM_133378:exon201:c.G39441A:p.E13147E,TTN:NM_001256850:exon202:c.G42222A:p.E14074E,TTN:NM_001267550:exon252:c.G47145A:p.E15715E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553017488;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.505e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.198089;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179484892 rs72677228 T A 100 PASS AC=5;AF=0.0363419;AN=214;NS=2504;DP=19679;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0258;AF_popmax=0.0897;AF_male=0.0260;AF_female=0.0256;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0912;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0053428;Kaviar_AC=826;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677228;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0258;AF_popmax=0.0897;AF_male=0.0260;AF_female=0.0256;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0912;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0769;Kaviar_AF=0.0053428;Kaviar_AC=826;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179485521 rs540340364 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18629;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.T18621A:p.D6207E,TTN:NM_133432:exon76:c.T18996A:p.D6332E,TTN:NM_133437:exon76:c.T19197A:p.D6399E,TTN:NM_133378:exon196:c.T38112A:p.D12704E,TTN:NM_001256850:exon197:c.T40893A:p.D13631E,TTN:NM_001267550:exon247:c.T45816A:p.D15272E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540340364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.342;SIFT_converted_rankscore=0.213;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.899;MutationTaster_converted_rankscore=0.361;MutationTaster_pred=D;MutationAssessor_score=-0.485;MutationAssessor_score_rankscore=0.027;MutationAssessor_pred=N;FATHMM_score=1.16;FATHMM_converted_rankscore=0.381;FATHMM_pred=T;PROVEAN_score=-2.18;PROVEAN_converted_rankscore=0.491;PROVEAN_pred=N;VEST3_score=0.039;VEST3_rankscore=0.029;MetaSVM_score=-1.077;MetaSVM_rankscore=0.079;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.201;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.378;M-CAP_pred=T;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=0.588;MutPred_rankscore=0.717;CADD_raw=-1.228;CADD_raw_rankscore=0.024;CADD_phred=0.006;DANN_score=0.415;DANN_rankscore=0.030;fathmm-MKL_coding_score=0.593;fathmm-MKL_coding_rankscore=0.306;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.239;Eigen-PC-raw=-1.086;GenoCanyon_score=0.742;GenoCanyon_score_rankscore=0.232;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=0.66;GERP++_RS_rankscore=0.170;phyloP100way_vertebrate=1.023;phyloP100way_vertebrate_rankscore=0.295;phyloP20way_mammalian=-0.736;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=5.948;SiPhy_29way_logOdds_rankscore=0.183;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.494e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.639538;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179485599 rs2303829 A G 100 PASS AC=5;AF=0.0363419;AN=214;NS=2504;DP=18086;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.T18543C:p.A6181A,TTN:NM_133432:exon76:c.T18918C:p.A6306A,TTN:NM_133437:exon76:c.T19119C:p.A6373A,TTN:NM_133378:exon196:c.T38034C:p.A12678A,TTN:NM_001256850:exon197:c.T40815C:p.A13605A,TTN:NM_001267550:exon247:c.T45738C:p.A15246A;1000g2015aug_all=0.0363419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303829;CLNALLELEID=56158;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0224;ExAC_nontcga_ALL=0.0343;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0360;ExAC_nontcga_EAS=0.1057;ExAC_nontcga_FIN=0.0527;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0301;AF=0.0260;AF_popmax=0.0922;AF_male=0.0261;AF_female=0.0258;AF_raw=0.0259;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0922;AF_nfe=0.0250;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0924;non_neuro_AF_popmax=0.0922;non_cancer_AF_popmax=.;controls_AF_popmax=0.0797;Kaviar_AF=0.0312739;Kaviar_AC=4835;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.705858;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179485707 rs534018757 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19375;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon75:c.C18435T:p.I6145I,TTN:NM_133432:exon76:c.C18810T:p.I6270I,TTN:NM_133437:exon76:c.C19011T:p.I6337I,TTN:NM_133378:exon196:c.C37926T:p.I12642I,TTN:NM_001256850:exon197:c.C40707T:p.I13569I,TTN:NM_001267550:exon247:c.C45630T:p.I15210I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534018757;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.911e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.669136;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179486037 rs72677225 C A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20213;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon74:c.G18213T:p.K6071N,TTN:NM_133432:exon75:c.G18588T:p.K6196N,TTN:NM_133437:exon75:c.G18789T:p.K6263N,TTN:NM_133378:exon195:c.G37704T:p.K12568N,TTN:NM_001256850:exon196:c.G40485T:p.K13495N,TTN:NM_001267550:exon246:c.G45408T:p.K15136N;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677225;CLNALLELEID=56153;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.768;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=-3.04;PROVEAN_converted_rankscore=0.651;PROVEAN_pred=D;VEST3_score=0.178;VEST3_rankscore=0.234;MetaSVM_score=-0.925;MetaSVM_rankscore=0.449;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_rankscore=0.392;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.374;M-CAP_pred=T;REVEL_score=0.180;REVEL_rankscore=0.456;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.020;CADD_raw_rankscore=0.423;CADD_phred=22.3;DANN_score=0.973;DANN_rankscore=0.327;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.605;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.395;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.334;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.39;GERP++_RS_rankscore=0.378;phyloP100way_vertebrate=1.283;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.006;SiPhy_29way_logOdds_rankscore=0.467;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0066;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0020;AF=0.0046;AF_popmax=0.0070;AF_male=0.0046;AF_female=0.0046;AF_raw=0.0046;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0070;AF_fin=0.0060;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0063;non_neuro_AF_popmax=0.0067;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0048253;Kaviar_AC=746;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.183556;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179486376 rs144668626 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=19502;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0143;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon73:c.G17980A:p.A5994T,TTN:NM_133432:exon74:c.G18355A:p.A6119T,TTN:NM_133437:exon74:c.G18556A:p.A6186T,TTN:NM_133378:exon194:c.G37471A:p.A12491T,TTN:NM_001256850:exon195:c.G40252A:p.A13418T,TTN:NM_001267550:exon245:c.G45175A:p.A15059T;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144668626;CLNALLELEID=56147;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.617;PROVEAN_pred=D;VEST3_score=0.324;VEST3_rankscore=0.519;MetaSVM_score=-0.074;MetaSVM_rankscore=0.807;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_rankscore=0.811;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.366;REVEL_rankscore=0.689;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.195;CADD_raw_rankscore=0.562;CADD_phred=23.9;DANN_score=0.966;DANN_rankscore=0.297;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.885;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.897;Eigen-PC-raw=0.903;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=7.858;phyloP100way_vertebrate_rankscore=0.852;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0157;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0027943;Kaviar_AC=432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.755334;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179486478 rs72677222 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21617;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72677222;CLNALLELEID=56145;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.5138;dbscSNV_RF_SCORE=0.574;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0073;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0124;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0030;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0074;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0078136;Kaviar_AC=1208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179487314 rs545944925 C CT 100 PASS AC=5;AF=0.0391374;AN=214;NS=2504;DP=17969;EAS_AF=0.0982;AMR_AF=0.0303;AFR_AF=0.0061;EUR_AF=0.0288;SAS_AF=0.0399;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0391374;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200732906;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0262;AF_popmax=0.0905;AF_male=0.0263;AF_female=0.0261;AF_raw=0.0262;AF_afr=0.0049;AF_sas=.;AF_amr=0.0257;AF_eas=0.0905;AF_nfe=0.0251;AF_fin=0.0569;AF_asj=0.0396;AF_oth=0.0290;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0782;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179495795 rs578020185 C T 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179497025 rs16866423 A G 100 PASS AC=2;AF=0.0395367;AN=214;NS=2504;DP=16883;EAS_AF=0.1448;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0399;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.T16401C:p.N5467N,TTN:NM_133432:exon65:c.T16776C:p.N5592N,TTN:NM_133437:exon65:c.T16977C:p.N5659N,TTN:NM_133378:exon185:c.T35892C:p.N11964N,TTN:NM_001256850:exon186:c.T38673C:p.N12891N,TTN:NM_001267550:exon236:c.T43596C:p.N14532N;1000g2015aug_all=0.0395367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866423;CLNALLELEID=56135;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0237;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0.1387;ExAC_nontcga_FIN=0.0260;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0248;ExAC_nontcga_SAS=0.0454;AF=0.0119;AF_popmax=0.1229;AF_male=0.0122;AF_female=0.0117;AF_raw=0.0120;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0.1229;AF_nfe=0.0039;AF_fin=0.0250;AF_asj=0.0172;AF_oth=0.0166;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1229;non_cancer_AF_popmax=.;controls_AF_popmax=0.1018;Kaviar_AF=0.0166169;Kaviar_AC=2569;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.940713;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179497133 rs56034831 C T 100 PASS AC=3;AF=0.00698882;AN=214;NS=2504;DP=19203;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.G16293A:p.R5431R,TTN:NM_133432:exon65:c.G16668A:p.R5556R,TTN:NM_133437:exon65:c.G16869A:p.R5623R,TTN:NM_133378:exon185:c.G35784A:p.R11928R,TTN:NM_001256850:exon186:c.G38565A:p.R12855R,TTN:NM_001267550:exon236:c.G43488A:p.R14496R;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56034831;CLNALLELEID=56133;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0290;ExAC_nontcga_ALL=0.0213;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0072;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0370;ExAC_nontcga_NFE=0.0345;ExAC_nontcga_OTH=0.0296;ExAC_nontcga_SAS=7.822e-05;AF=0.0278;AF_popmax=0.0427;AF_male=0.0251;AF_female=0.0311;AF_raw=0.0278;AF_afr=0.0060;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0427;AF_fin=0.0318;AF_asj=0.0345;AF_oth=0.0303;non_topmed_AF_popmax=0.0472;non_neuro_AF_popmax=0.0436;non_cancer_AF_popmax=.;controls_AF_popmax=0.0620;Kaviar_AF=0.0189713;Kaviar_AC=2933;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.156356;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179498022 rs369959066 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=21626;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.C15783T:p.Y5261Y,TTN:NM_133432:exon62:c.C16158T:p.Y5386Y,TTN:NM_133437:exon62:c.C16359T:p.Y5453Y,TTN:NM_133378:exon182:c.C35274T:p.Y11758Y,TTN:NM_001256850:exon183:c.C38055T:p.Y12685Y,TTN:NM_001267550:exon233:c.C42978T:p.Y14326Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369959066;CLNALLELEID=173166;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0064;AF=3.189e-05;AF_popmax=6.487e-05;AF_male=0;AF_female=7.189e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.027e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008473;Kaviar_AC=131;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.742230;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179498042 rs6723526 T C 100 PASS AC=25;AF=0.0509185;AN=214;NS=2504;DP=21983;EAS_AF=0.005;AMR_AF=0.062;AFR_AF=0.0061;EUR_AF=0.1004;SAS_AF=0.1002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.A15763G:p.K5255E,TTN:NM_133432:exon62:c.A16138G:p.K5380E,TTN:NM_133437:exon62:c.A16339G:p.K5447E,TTN:NM_133378:exon182:c.A35254G:p.K11752E,TTN:NM_001256850:exon183:c.A38035G:p.K12679E,TTN:NM_001267550:exon233:c.A42958G:p.K14320E;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6723526;CLNALLELEID=56128;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.089;SIFT_converted_rankscore=0.443;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.749;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.82;MutationAssessor_score_rankscore=0.479;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_converted_rankscore=0.603;PROVEAN_pred=D;VEST3_score=0.29;VEST3_rankscore=0.490;MetaSVM_score=-0.945;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.046;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.255;REVEL_rankscore=0.570;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.465;CADD_raw_rankscore=0.357;CADD_phred=19.24;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.790;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.691;Eigen-PC-raw=0.731;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=7.969;phyloP100way_vertebrate_rankscore=0.875;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.822;SiPhy_29way_logOdds_rankscore=0.856;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000163492.9;GTEx_V6p_tissue=Pancreas;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1098;ExAC_nontcga_ALL=0.0820;ExAC_nontcga_AFR=0.0168;ExAC_nontcga_AMR=0.0404;ExAC_nontcga_EAS=0.0075;ExAC_nontcga_FIN=0.0955;ExAC_nontcga_NFE=0.1042;ExAC_nontcga_OTH=0.0768;ExAC_nontcga_SAS=0.1007;AF=0.0756;AF_popmax=0.1113;AF_male=0.0739;AF_female=0.0776;AF_raw=0.0754;AF_afr=0.0170;AF_sas=.;AF_amr=0.0366;AF_eas=0.0046;AF_nfe=0.1113;AF_fin=0.0998;AF_asj=0.0586;AF_oth=0.0948;non_topmed_AF_popmax=0.1142;non_neuro_AF_popmax=0.1095;non_cancer_AF_popmax=.;controls_AF_popmax=0.1150;Kaviar_AF=0.082748;Kaviar_AC=12793;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.774815;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179498303 rs16866425 T C 100 PASS AC=4;AF=0.109425;AN=214;NS=2504;DP=19292;EAS_AF=0.0228;AMR_AF=0.1556;AFR_AF=0.1566;EUR_AF=0.0328;SAS_AF=0.181;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.A15588G:p.K5196K,TTN:NM_133432:exon61:c.A15963G:p.K5321K,TTN:NM_133437:exon61:c.A16164G:p.K5388K,TTN:NM_133378:exon181:c.A35079G:p.K11693K,TTN:NM_001256850:exon182:c.A37860G:p.K12620K,TTN:NM_001267550:exon232:c.A42783G:p.K14261K;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866425;CLNALLELEID=56124;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0211;ExAC_nontcga_ALL=0.0764;ExAC_nontcga_AFR=0.1383;ExAC_nontcga_AMR=0.1971;ExAC_nontcga_EAS=0.0240;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0249;ExAC_nontcga_OTH=0.0787;ExAC_nontcga_SAS=0.1636;AF=0.0630;AF_popmax=0.1686;AF_male=0.0637;AF_female=0.0621;AF_raw=0.0633;AF_afr=0.1360;AF_sas=.;AF_amr=0.1686;AF_eas=0.0288;AF_nfe=0.0233;AF_fin=0.0538;AF_asj=0.0276;AF_oth=0.0470;non_topmed_AF_popmax=0.1741;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0678969;Kaviar_AC=10497;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.865320;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179499038 rs7590037 A G 100 PASS AC=4;AF=0.109625;AN=214;NS=2504;DP=19539;EAS_AF=0.0238;AMR_AF=0.1556;AFR_AF=0.1573;EUR_AF=0.0328;SAS_AF=0.18;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7590037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0632;AF_popmax=0.1686;AF_male=0.0640;AF_female=0.0623;AF_raw=0.0633;AF_afr=0.1371;AF_sas=.;AF_amr=0.1686;AF_eas=0.0281;AF_nfe=0.0232;AF_fin=0.0538;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1741;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0115716;Kaviar_AC=1789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179499530 rs2288563 T C 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17258;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon57:c.A14876G:p.H4959R,TTN:NM_133432:exon58:c.A15251G:p.H5084R,TTN:NM_133437:exon58:c.A15452G:p.H5151R,TTN:NM_133378:exon178:c.A34367G:p.H11456R,TTN:NM_001256850:exon179:c.A37148G:p.H12383R,TTN:NM_001267550:exon229:c.A42071G:p.H14024R;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288563;CLNALLELEID=56117;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.534;SIFT_converted_rankscore=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.22;Polyphen2_HDIV_rankscore=0.286;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_rankscore=0.223;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_score_rankscore=0.236;MutationAssessor_pred=L;FATHMM_score=1.39;FATHMM_converted_rankscore=0.338;FATHMM_pred=T;PROVEAN_score=-3.72;PROVEAN_converted_rankscore=0.720;PROVEAN_pred=D;VEST3_score=0.254;VEST3_rankscore=0.394;MetaSVM_score=-1.143;MetaSVM_rankscore=0.012;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.016;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.128;REVEL_rankscore=0.356;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.512;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.940;DANN_rankscore=0.235;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.036;Eigen-PC-raw=0.210;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=5.867;phyloP100way_vertebrate_rankscore=0.691;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.023;SiPhy_29way_logOdds_rankscore=0.580;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0205;ExAC_nontcga_ALL=0.0298;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.1065;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0069;AF=0.0249;AF_popmax=0.0905;AF_male=0.0252;AF_female=0.0246;AF_raw=0.0249;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0905;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0294;non_topmed_AF_popmax=0.0908;non_neuro_AF_popmax=0.0905;non_cancer_AF_popmax=.;controls_AF_popmax=0.0789;Kaviar_AF=0.0279751;Kaviar_AC=4325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.890441;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500629 rs558577294 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20725;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558577294;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500777 rs201257644 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17410;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon54:c.G14326A:p.D4776N,TTN:NM_133432:exon55:c.G14701A:p.D4901N,TTN:NM_133437:exon55:c.G14902A:p.D4968N,TTN:NM_133378:exon175:c.G33817A:p.D11273N,TTN:NM_001256850:exon176:c.G36598A:p.D12200N,TTN:NM_001267550:exon226:c.G41521A:p.D13841N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201257644;CLNALLELEID=189619;CLNDN=Muscular_Diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.108;SIFT_converted_rankscore=0.294;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_rankscore=0.378;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_rankscore=0.306;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=-0.09;MutationAssessor_score_rankscore=0.047;MutationAssessor_pred=N;FATHMM_score=3.73;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=-3.32;PROVEAN_converted_rankscore=0.660;PROVEAN_pred=D;VEST3_score=0.059;VEST3_rankscore=0.062;MetaSVM_score=-0.926;MetaSVM_rankscore=0.448;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=0.031;M-CAP_rankscore=0.536;M-CAP_pred=D;REVEL_score=0.144;REVEL_rankscore=0.389;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.678;CADD_raw_rankscore=0.383;CADD_phred=20.7;DANN_score=0.776;DANN_rankscore=0.116;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.678;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.035;Eigen-PC-raw=0.106;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=4.835;phyloP100way_vertebrate_rankscore=0.622;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.208;phastCons20way_mammalian_rankscore=0.219;SiPhy_29way_logOdds=20.055;SiPhy_29way_logOdds_rankscore=0.976;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=7.185e-05;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003881;Kaviar_AC=60;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.861749;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179500790 rs55847232 A G 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=16880;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon54:c.T14313C:p.A4771A,TTN:NM_133432:exon55:c.T14688C:p.A4896A,TTN:NM_133437:exon55:c.T14889C:p.A4963A,TTN:NM_133378:exon175:c.T33804C:p.A11268A,TTN:NM_001256850:exon176:c.T36585C:p.A12195A,TTN:NM_001267550:exon226:c.T41508C:p.A13836A;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55847232;CLNALLELEID=56111;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0220;ExAC_nontcga_ALL=0.0344;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.1061;ExAC_nontcga_FIN=0.0528;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0321;ExAC_nontcga_SAS=0.0304;AF=0.0258;AF_popmax=0.0897;AF_male=0.0259;AF_female=0.0257;AF_raw=0.0259;AF_afr=0.0050;AF_sas=.;AF_amr=0.0236;AF_eas=0.0897;AF_nfe=0.0250;AF_fin=0.0519;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0899;non_neuro_AF_popmax=0.0897;non_cancer_AF_popmax=.;controls_AF_popmax=0.0792;Kaviar_AF=0.031455;Kaviar_AC=4863;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.936296;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179501351 rs72650077 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19657;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon53:c.C13908T:p.G4636G,TTN:NM_133432:exon54:c.C14283T:p.G4761G,TTN:NM_133437:exon54:c.C14484T:p.G4828G,TTN:NM_133378:exon174:c.C33399T:p.G11133G,TTN:NM_001256850:exon175:c.C36180T:p.G12060G,TTN:NM_001267550:exon225:c.C41103T:p.G13701G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650077;CLNALLELEID=56108;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0048;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0007;AF=0.0027;AF_popmax=0.0059;AF_male=0.0024;AF_female=0.0032;AF_raw=0.0027;AF_afr=0.0002;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0023;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0032276;Kaviar_AC=499;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.670542;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179505896 rs2243452 A G 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=18276;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2243452;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0257;AF_popmax=0.0878;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0050;AF_sas=.;AF_amr=0.0236;AF_eas=0.0878;AF_nfe=0.0248;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0294;non_topmed_AF_popmax=0.0892;non_neuro_AF_popmax=0.0878;non_cancer_AF_popmax=.;controls_AF_popmax=0.0757;Kaviar_AF=0.004573;Kaviar_AC=707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629524|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.322958;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179506911 rs141920886 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=15213;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141920886;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0022;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179509245 rs116209755 T C 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=17668;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116209755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179510833 rs185968622 A T 100 PASS AC=4;AF=0.10603;AN=214;NS=2504;DP=3022;EAS_AF=0.0238;AMR_AF=0.1628;AFR_AF=0.1392;EUR_AF=0.0328;SAS_AF=0.181;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.10603;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185968622;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0180;AF_popmax=0.0405;AF_male=0.0184;AF_female=0.0174;AF_raw=0.0149;AF_afr=0.0351;AF_sas=.;AF_amr=0.0405;AF_eas=0.004;AF_nfe=0.0048;AF_fin=0;AF_asj=0.0172;AF_oth=0.0260;non_topmed_AF_popmax=0.0469;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0331;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179513923 rs7606485 A T 100 PASS AC=4;AF=0.0934505;AN=214;NS=2504;DP=17144;EAS_AF=0.0228;AMR_AF=0.1513;AFR_AF=0.0983;EUR_AF=0.0328;SAS_AF=0.181;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7606485;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0493;AF_popmax=0.1663;AF_male=0.0498;AF_female=0.0487;AF_raw=0.0494;AF_afr=0.0880;AF_sas=.;AF_amr=0.1663;AF_eas=0.0284;AF_nfe=0.0229;AF_fin=0.0539;AF_asj=0.0276;AF_oth=0.0451;non_topmed_AF_popmax=0.1716;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1626;Kaviar_AF=0.0101292;Kaviar_AC=1566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179513966 rs181316033 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15556;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181316033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.078e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.197e-05;AF_popmax=6.507e-05;AF_male=5.746e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.507e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.063e-05;non_neuro_AF_popmax=7.376e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514208 rs116254094 G A 100 PASS AC=5;AF=0.0327476;AN=214;NS=2504;DP=16365;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0327476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116254094;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0260;AF_popmax=0.0708;AF_male=0.0278;AF_female=0.0239;AF_raw=0.0261;AF_afr=0.0708;AF_sas=.;AF_amr=0.0153;AF_eas=0.0071;AF_nfe=0.0073;AF_fin=0.0130;AF_asj=0.0034;AF_oth=0.0165;non_topmed_AF_popmax=0.0710;non_neuro_AF_popmax=0.0676;non_cancer_AF_popmax=.;controls_AF_popmax=0.0642;Kaviar_AF=0.0025614;Kaviar_AC=396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514420 rs1366677 G A 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17351;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1366677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0246;AF_popmax=0.0874;AF_male=0.0249;AF_female=0.0244;AF_raw=0.0247;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0874;AF_nfe=0.0232;AF_fin=0.0516;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0876;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0785;Kaviar_AF=0.024781;Kaviar_AC=645;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514433 rs2562845 T C 100 PASS AC=51;AF=0.32488;AN=214;NS=2504;DP=17832;EAS_AF=0.5565;AMR_AF=0.2334;AFR_AF=0.2746;EUR_AF=0.2078;SAS_AF=0.3395;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.32488;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562845;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2406;AF_popmax=0.5499;AF_male=0.2448;AF_female=0.2353;AF_raw=0.2410;AF_afr=0.2809;AF_sas=.;AF_amr=0.2388;AF_eas=0.5499;AF_nfe=0.1999;AF_fin=0.1907;AF_asj=0.1931;AF_oth=0.2297;non_topmed_AF_popmax=0.5465;non_neuro_AF_popmax=0.5499;non_cancer_AF_popmax=.;controls_AF_popmax=0.5578;Kaviar_AF=0.0458015;Kaviar_AC=7081;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179514479 rs72650068 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18317;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0048;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0048;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001022;Kaviar_AC=158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0048;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0048;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001022;Kaviar_AC=158;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514508 rs2742356 A C 100 PASS AC=3;AF=0.0305511;AN=214;NS=2504;DP=17893;EAS_AF=0.0992;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0296;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0352;ExAC_nontcga_EAS=0.1048;ExAC_nontcga_FIN=0.0527;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0305;ExAC_nontcga_SAS=0.0071;AF=0.0248;AF_popmax=0.0886;AF_male=0.0250;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0886;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0889;non_neuro_AF_popmax=0.0886;non_cancer_AF_popmax=.;controls_AF_popmax=0.0784;Kaviar_AF=0.027477;Kaviar_AC=4248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179514941 rs139512154 TTTTCCTCTTCAGGAGCAA T 100 PASS AC=5;AF=0.033147;AN=214;NS=2504;DP=20291;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0139;SAS_AF=0.0174;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_133378:exon164:c.32447_32464del:p.10816_10822del,TTN:NM_001256850:exon165:c.35228_35245del:p.11743_11749del,TTN:NM_001267550:exon210:c.39749_39766del:p.13250_13256del;1000g2015aug_all=0.033147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139512154;CLNALLELEID=56097;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0186;ExAC_nontcga_AFR=0.0674;ExAC_nontcga_AMR=0.0108;ExAC_nontcga_EAS=0.0068;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0182;AF=0.0263;AF_popmax=0.0702;AF_male=0.0278;AF_female=0.0244;AF_raw=0.0263;AF_afr=0.0702;AF_sas=.;AF_amr=0.0165;AF_eas=0.0071;AF_nfe=0.0078;AF_fin=0.0132;AF_asj=0.0103;AF_oth=0.0175;non_topmed_AF_popmax=0.0704;non_neuro_AF_popmax=0.0663;non_cancer_AF_popmax=.;controls_AF_popmax=0.0627;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.840239,97.958201;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515437 rs2742355 T G 100 PASS AC=3;AF=0.0307508;AN=214;NS=2504;DP=17927;EAS_AF=0.1002;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742355;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0198;ExAC_nontcga_ALL=0.0377;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0574;ExAC_nontcga_EAS=0.1482;ExAC_nontcga_FIN=0.0690;ExAC_nontcga_NFE=0.0355;ExAC_nontcga_OTH=0.0397;ExAC_nontcga_SAS=0.0084;AF=0.0247;AF_popmax=0.0868;AF_male=0.0249;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0046;AF_sas=.;AF_amr=0.0236;AF_eas=0.0868;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0870;non_neuro_AF_popmax=0.0868;non_cancer_AF_popmax=.;controls_AF_popmax=0.0774;Kaviar_AF=0.0230721;Kaviar_AC=3567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515472 rs72650067 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=17936;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650067;CLNALLELEID=56095;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0097;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0018;AF=0.0065;AF_popmax=0.0095;AF_male=0.0052;AF_female=0.0081;AF_raw=0.0065;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0.0013;AF_nfe=0.0095;AF_fin=0.0069;AF_asj=0.0345;AF_oth=0.0055;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.757213;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515475 rs543584748 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543584748;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9964;dbscSNV_RF_SCORE=0.846;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.282e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.423e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.757213;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179515483 rs72650066 G C 100 PASS AC=2;AF=0.0393371;AN=214;NS=2504;DP=17978;EAS_AF=0.1438;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0399;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R;1000g2015aug_all=0.0393371;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650066;CLNALLELEID=56094;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.22;SIFT_converted_rankscore=0.305;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_rankscore=0.144;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.383;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=-0.03;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.753;PROVEAN_pred=N;VEST3_score=0.158;VEST3_rankscore=0.342;MetaSVM_score=-1.086;MetaSVM_rankscore=0.062;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.104;REVEL_rankscore=0.301;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.743;CADD_raw_rankscore=0.165;CADD_phred=9.108;DANN_score=0.904;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.346;fathmm-MKL_coding_rankscore=0.249;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.915;Eigen-PC-raw=-0.843;GenoCanyon_score=0.233;GenoCanyon_score_rankscore=0.185;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.08;GERP++_RS_rankscore=0.344;phyloP100way_vertebrate=2.103;phyloP100way_vertebrate_rankscore=0.412;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.095;phastCons100way_vertebrate_rankscore=0.225;phastCons20way_mammalian=0.093;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=11.644;SiPhy_29way_logOdds_rankscore=0.503;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0339;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0.1754;ExAC_nontcga_FIN=0.0345;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0324;ExAC_nontcga_SAS=0.0519;AF=0.0118;AF_popmax=0.1189;AF_male=0.0119;AF_female=0.0116;AF_raw=0.0119;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0.1189;AF_nfe=0.0040;AF_fin=0.0248;AF_asj=0.0172;AF_oth=0.0165;non_topmed_AF_popmax=0.1205;non_neuro_AF_popmax=0.1189;non_cancer_AF_popmax=.;controls_AF_popmax=0.1002;Kaviar_AF=0.0160865;Kaviar_AC=2487;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.484665;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179516580 rs72650063 G C 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=15537;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.0143;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0231;ExAC_nontcga_ALL=0.0268;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0126;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0439;ExAC_nontcga_NFE=0.0308;ExAC_nontcga_OTH=0.0277;ExAC_nontcga_SAS=0.0366;AF=0.0182;AF_popmax=0.0215;AF_male=0.0168;AF_female=0.0199;AF_raw=0.0182;AF_afr=0.0032;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0312;non_topmed_AF_popmax=0.0220;non_neuro_AF_popmax=0.0218;non_cancer_AF_popmax=.;controls_AF_popmax=0.0325;Kaviar_AF=0.0199092;Kaviar_AC=3078;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179516690 rs569579388 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16948;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon159:c.C31998T:p.F10666F,TTN:NM_001256850:exon160:c.C34779T:p.F11593F,TTN:NM_001267550:exon205:c.C39300T:p.F13100F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569579388;CLNALLELEID=173179;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.332e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.547e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.880171;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517019 rs12474306 A T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=16837;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon157:c.T31881A:p.P10627P,TTN:NM_001256850:exon158:c.T34662A:p.P11554P,TTN:NM_001267550:exon203:c.T39183A:p.P13061P;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12474306;CLNALLELEID=56087;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0080;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0088;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0119;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0034;AF=0.0069;AF_popmax=0.0106;AF_male=0.0065;AF_female=0.0074;AF_raw=0.0069;AF_afr=0.0025;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0055;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0081694;Kaviar_AC=1263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299074;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517105 rs544606300 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544606300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544606300;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517605 rs150223722 G A 100 PASS AC=1;AF=0.00638978;AN=214;NS=2504;DP=18062;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0245;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.C38929T:p.P12977S;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150223722;CLNALLELEID=238500;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.102;VEST3_rankscore=0.106;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.597;CADD_raw_rankscore=0.253;CADD_phred=13.83;DANN_score=0.567;DANN_rankscore=0.055;fathmm-MKL_coding_score=0.182;fathmm-MKL_coding_rankscore=0.200;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.872;Eigen-PC-raw=-0.027;GenoCanyon_score=0.029;GenoCanyon_score_rankscore=0.139;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.93;GERP++_RS_rankscore=0.445;phyloP100way_vertebrate=0.120;phyloP100way_vertebrate_rankscore=0.154;phyloP20way_mammalian=0.933;phyloP20way_mammalian_rankscore=0.449;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=9.634;SiPhy_29way_logOdds_rankscore=0.388;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0068;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0051;ExAC_nontcga_OTH=0.0059;ExAC_nontcga_SAS=0.0224;AF=0.0038;AF_popmax=0.0060;AF_male=0.0034;AF_female=0.0042;AF_raw=0.0038;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0020;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0069;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.465734;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517632 rs192528655 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=17949;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.C38902T:p.P12968S;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192528655;CLNALLELEID=238501;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.155;VEST3_rankscore=0.185;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=0.009;M-CAP_rankscore=0.236;M-CAP_pred=T;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.228;CADD_raw_rankscore=0.213;CADD_phred=11.90;DANN_score=0.508;DANN_rankscore=0.044;fathmm-MKL_coding_score=0.199;fathmm-MKL_coding_rankscore=0.206;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.776;Eigen-PC-raw=-0.040;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.76;GERP++_RS_rankscore=0.422;phyloP100way_vertebrate=0.930;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=-0.309;phyloP20way_mammalian_rankscore=0.079;phastCons100way_vertebrate=0.008;phastCons100way_vertebrate_rankscore=0.178;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=5.413;SiPhy_29way_logOdds_rankscore=0.155;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0031;AF=0.0007;AF_popmax=0.0007;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0010155;Kaviar_AC=157;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179517654 rs2742354 T C 100 PASS AC=5;AF=0.0365415;AN=214;NS=2504;DP=18162;EAS_AF=0.0992;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon200:c.A38880G:p.P12960P;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742354;CLNALLELEID=391958;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0348;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0362;ExAC_nontcga_EAS=0.1039;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0324;ExAC_nontcga_SAS=0.0300;AF=0.0258;AF_popmax=0.0875;AF_male=0.0259;AF_female=0.0257;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0875;AF_nfe=0.0250;AF_fin=0.0528;AF_asj=0.0379;AF_oth=0.0285;non_topmed_AF_popmax=0.0878;non_neuro_AF_popmax=0.0875;non_cancer_AF_popmax=.;controls_AF_popmax=0.0776;Kaviar_AF=0.030226;Kaviar_AC=4673;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.078236;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179517725 rs138858660 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18464;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138858660;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.788e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138858660;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.788e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.103e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518003 rs2562847 A G 100 PASS AC=10;AF=0.117013;AN=214;NS=2504;DP=17498;EAS_AF=0.125;AMR_AF=0.1816;AFR_AF=0.0416;EUR_AF=0.0636;SAS_AF=0.2198;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon198:c.T38753C:p.L12918S;1000g2015aug_all=0.117013;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562847;CLNALLELEID=517427;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.768;CADD_raw_rankscore=0.042;CADD_phred=0.050;DANN_score=0.531;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.080;fathmm-MKL_coding_rankscore=0.138;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=-0.256;Eigen-PC-raw=-0.213;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.115;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.6;GERP++_RS_rankscore=0.058;phyloP100way_vertebrate=-1.210;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.039;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=7.781;SiPhy_29way_logOdds_rankscore=0.281;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1046;ExAC_nontcga_AFR=0.0452;ExAC_nontcga_AMR=0.2285;ExAC_nontcga_EAS=0.1276;ExAC_nontcga_FIN=0.1111;ExAC_nontcga_NFE=0.0539;ExAC_nontcga_OTH=0.1082;ExAC_nontcga_SAS=0.1964;AF=0.0611;AF_popmax=0.1778;AF_male=0.0607;AF_female=0.0617;AF_raw=0.0616;AF_afr=0.0444;AF_sas=.;AF_amr=0.1778;AF_eas=0.1156;AF_nfe=0.0478;AF_fin=0.1051;AF_asj=0.0655;AF_oth=0.0738;non_topmed_AF_popmax=0.1837;non_neuro_AF_popmax=0.1710;non_cancer_AF_popmax=.;controls_AF_popmax=0.1789;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518170 rs554529099 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon197:c.A38691C:p.E12897D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554529099;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.81;FATHMM_converted_rankscore=0.740;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.065;VEST3_rankscore=0.051;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=0.005;M-CAP_rankscore=0.115;M-CAP_pred=T;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.677;CADD_raw_rankscore=0.159;CADD_phred=8.673;DANN_score=0.609;DANN_rankscore=0.064;fathmm-MKL_coding_score=0.167;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.305;Eigen-PC-raw=-0.133;GenoCanyon_score=0.012;GenoCanyon_score_rankscore=0.123;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.8;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=1.426;phyloP100way_vertebrate_rankscore=0.343;phyloP20way_mammalian=0.853;phyloP20way_mammalian_rankscore=0.373;phastCons100way_vertebrate=0.360;phastCons100way_vertebrate_rankscore=0.256;phastCons20way_mammalian=0.013;phastCons20way_mammalian_rankscore=0.120;SiPhy_29way_logOdds=7.821;SiPhy_29way_logOdds_rankscore=0.283;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518273 rs533718878 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19155;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533718878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.05;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0060;AF_popmax=0.0109;AF_male=0.0052;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0040;AF_asj=0;AF_oth=0.0072;non_topmed_AF_popmax=0.0142;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0006209;Kaviar_AC=96;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533718878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.05;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0060;AF_popmax=0.0109;AF_male=0.0052;AF_female=0.0070;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0040;AF_asj=0;AF_oth=0.0072;non_topmed_AF_popmax=0.0142;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0006209;Kaviar_AC=96;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518854 rs546356284 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=14663;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546356284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0237;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035511;Kaviar_AC=549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546356284;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0237;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0035511;Kaviar_AC=549;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179518911 rs139167585 TAGC T 100 PASS AC=42;AF=0.109425;AN=214;NS=2504;DP=15349;EAS_AF=0.004;AMR_AF=0.1311;AFR_AF=0.0893;EUR_AF=0.1968;SAS_AF=0.1401;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139167585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1525;ExAC_nontcga_AFR=0.0929;ExAC_nontcga_AMR=0.0980;ExAC_nontcga_EAS=0.0073;ExAC_nontcga_FIN=0.1777;ExAC_nontcga_NFE=0.1919;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1479;AF=0.1560;AF_popmax=0.2015;AF_male=0.1537;AF_female=0.1589;AF_raw=0.1571;AF_afr=0.0944;AF_sas=.;AF_amr=0.1107;AF_eas=0.0046;AF_nfe=0.2015;AF_fin=0.1823;AF_asj=0.1111;AF_oth=0.1800;non_topmed_AF_popmax=0.2072;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2131;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139167585;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1525;ExAC_nontcga_AFR=0.0929;ExAC_nontcga_AMR=0.0980;ExAC_nontcga_EAS=0.0073;ExAC_nontcga_FIN=0.1777;ExAC_nontcga_NFE=0.1919;ExAC_nontcga_OTH=0.1409;ExAC_nontcga_SAS=0.1479;AF=0.1560;AF_popmax=0.2015;AF_male=0.1537;AF_female=0.1589;AF_raw=0.1571;AF_afr=0.0944;AF_sas=.;AF_amr=0.1107;AF_eas=0.0046;AF_nfe=0.2015;AF_fin=0.1823;AF_asj=0.1111;AF_oth=0.1800;non_topmed_AF_popmax=0.2072;non_neuro_AF_popmax=0.2001;non_cancer_AF_popmax=.;controls_AF_popmax=0.2131;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 +2 179519086 rs201823018 A T 100 PASS AC=1;AF=0.0413339;AN=214;NS=2504;DP=14466;EAS_AF=0.1448;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.0491;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201823018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0124;AF_popmax=0.1238;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0123;AF_afr=0.0020;AF_sas=.;AF_amr=0;AF_eas=0.1238;AF_nfe=0.0043;AF_fin=0.0282;AF_asj=0.0094;AF_oth=0.0164;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1238;non_cancer_AF_popmax=.;controls_AF_popmax=0.1024;Kaviar_AF=0.0102966;Kaviar_AC=268;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201823018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0124;AF_popmax=0.1238;AF_male=0.0120;AF_female=0.0129;AF_raw=0.0123;AF_afr=0.0020;AF_sas=.;AF_amr=0;AF_eas=0.1238;AF_nfe=0.0043;AF_fin=0.0282;AF_asj=0.0094;AF_oth=0.0164;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1238;non_cancer_AF_popmax=.;controls_AF_popmax=0.1024;Kaviar_AF=0.0102966;Kaviar_AC=268;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179519330 rs143949452 C A 100 PASS AC=11;AF=0.103035;AN=214;NS=2504;DP=13194;EAS_AF=0.3105;AMR_AF=0.0504;AFR_AF=0.0287;EUR_AF=0.0467;SAS_AF=0.0849;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.103035;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78335321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0145;AF_popmax=0.0404;AF_male=0.0158;AF_female=0.0128;AF_raw=0.0530;AF_afr=0.0159;AF_sas=.;AF_amr=0.0091;AF_eas=0.0404;AF_nfe=0.0156;AF_fin=0.0036;AF_asj=0.0219;AF_oth=0.0078;non_topmed_AF_popmax=0.0411;non_neuro_AF_popmax=0.0404;non_cancer_AF_popmax=.;controls_AF_popmax=0.0355;Kaviar_AF=0.0198248;Kaviar_AC=516;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179519351 rs148207286 T C 100 PASS AC=11;AF=0.102436;AN=214;NS=2504;DP=13525;EAS_AF=0.3095;AMR_AF=0.0476;AFR_AF=0.0287;EUR_AF=0.0457;SAS_AF=0.0859;AA=N|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148207286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0123;AF_popmax=0.0269;AF_male=0.0136;AF_female=0.0108;AF_raw=0.0534;AF_afr=0.0150;AF_sas=.;AF_amr=0.0058;AF_eas=0.0269;AF_nfe=0.0135;AF_fin=0.0027;AF_asj=0.0092;AF_oth=0.0042;non_topmed_AF_popmax=0.0274;non_neuro_AF_popmax=0.0269;non_cancer_AF_popmax=.;controls_AF_popmax=0.0240;Kaviar_AF=0.0217074;Kaviar_AC=565;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179522337 rs564445960 G A 100 PASS AC=5;AF=0.136581;AN=214;NS=2504;DP=12004;EAS_AF=0.0119;AMR_AF=0.0562;AFR_AF=0.4213;EUR_AF=0.0149;SAS_AF=0.0624;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0661;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0081;AF=0.1140;AF_popmax=0.3657;AF_male=0.1170;AF_female=0.1101;AF_raw=0.1073;AF_afr=0.3657;AF_sas=.;AF_amr=0.0395;AF_eas=0.0070;AF_nfe=0.0087;AF_fin=0.0115;AF_asj=0.0220;AF_oth=0.0315;non_topmed_AF_popmax=0.3680;non_neuro_AF_popmax=0.3478;non_cancer_AF_popmax=.;controls_AF_popmax=0.3514;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.136581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0661;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0081;AF=0.1140;AF_popmax=0.3657;AF_male=0.1170;AF_female=0.1101;AF_raw=0.1073;AF_afr=0.3657;AF_sas=.;AF_amr=0.0395;AF_eas=0.0070;AF_nfe=0.0087;AF_fin=0.0115;AF_asj=0.0220;AF_oth=0.0315;non_topmed_AF_popmax=0.3680;non_neuro_AF_popmax=0.3478;non_cancer_AF_popmax=.;controls_AF_popmax=0.3514;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179522377 rs549980392 T C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179522513 rs562217623 T C 100 PASS 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AC=1;AF=0.000199681;AN=214;NS=2504;DP=15797;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531461501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.029e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.885e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 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AC=51;AF=0.0680911;AN=214;NS=2504;DP=14884;EAS_AF=0.001;AMR_AF=0.1311;AFR_AF=0.0136;EUR_AF=0.1799;SAS_AF=0.0511;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1256;AF_popmax=0.1885;AF_male=0.1282;AF_female=0.1224;AF_raw=0.1265;AF_afr=0.0380;AF_sas=.;AF_amr=0.1339;AF_eas=0.0007;AF_nfe=0.1885;AF_fin=0.1142;AF_asj=0.3218;AF_oth=0.1469;non_topmed_AF_popmax=0.1725;non_neuro_AF_popmax=0.1904;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0388428;Kaviar_AC=1011;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1256;AF_popmax=0.1885;AF_male=0.1282;AF_female=0.1224;AF_raw=0.1265;AF_afr=0.0380;AF_sas=.;AF_amr=0.1339;AF_eas=0.0007;AF_nfe=0.1885;AF_fin=0.1142;AF_asj=0.3218;AF_oth=0.1469;non_topmed_AF_popmax=0.1725;non_neuro_AF_popmax=0.1904;non_cancer_AF_popmax=.;controls_AF_popmax=0.1568;Kaviar_AF=0.0388428;Kaviar_AC=1011;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 +2 179527095 rs201474544 G A 100 PASS AC=4;AF=0.0091853;AN=214;NS=2504;DP=12357;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0215;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.C37009T:p.P12337S;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201474544;CLNALLELEID=221129;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.680;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.568;CADD_raw_rankscore=0.148;CADD_phred=7.931;DANN_score=0.705;DANN_rankscore=0.090;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_rankscore=0.066;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.322;Eigen-PC-raw=-0.127;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.072;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=-1.175;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=0.937;phyloP20way_mammalian_rankscore=0.529;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=4.844;SiPhy_29way_logOdds_rankscore=0.128;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0275;ExAC_nontcga_OTH=0.0118;ExAC_nontcga_SAS=0.0264;AF=0.0119;AF_popmax=0.0177;AF_male=0.0119;AF_female=0.012;AF_raw=0.0125;AF_afr=0.0040;AF_sas=.;AF_amr=0.0063;AF_eas=0;AF_nfe=0.0177;AF_fin=0.0113;AF_asj=0;AF_oth=0.0086;non_topmed_AF_popmax=0.0175;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0137967;Kaviar_AC=2133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179527475 rs535294541 C T 100 PASS AC=5;AF=0.0329473;AN=214;NS=2504;DP=16789;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon175:c.G36855A:p.P12285P;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535294541;CLNALLELEID=238508;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0263;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0556;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.0667;AF=0.0211;AF_popmax=0.0577;AF_male=0.0225;AF_female=0.0193;AF_raw=0.0239;AF_afr=0.0577;AF_sas=.;AF_amr=0.0076;AF_eas=0.0064;AF_nfe=0.0063;AF_fin=0.0111;AF_asj=0.0052;AF_oth=0.0061;non_topmed_AF_popmax=0.0582;non_neuro_AF_popmax=0.0542;non_cancer_AF_popmax=.;controls_AF_popmax=0.05;Kaviar_AF=0.0011578;Kaviar_AC=179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.326013;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179528068 rs142156368 C A 100 PASS AC=2;AF=0.057508;AN=214;NS=2504;DP=13903;EAS_AF=0.1716;AMR_AF=0.0144;AFR_AF=0.0272;EUR_AF=0.0089;SAS_AF=0.0613;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.G36625T:p.V12209L;1000g2015aug_all=0.057508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650053;CLNALLELEID=189642;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_rankscore=0.423;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.425;Polyphen2_HVAR_rankscore=0.435;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=-1.071;MetaSVM_rankscore=0.091;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.040;REVEL_rankscore=0.108;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.906;CADD_raw_rankscore=0.290;CADD_phred=15.63;DANN_score=0.836;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_rankscore=0.105;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.434;Eigen-PC-raw=-0.519;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.061;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.39;GERP++_RS_rankscore=0.284;phyloP100way_vertebrate=-0.385;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=0.005;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=7.463;SiPhy_29way_logOdds_rankscore=0.263;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0287;ExAC_nontcga_AFR=0.0220;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0.2329;ExAC_nontcga_FIN=0.0276;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0584;AF=0.0163;AF_popmax=0.1395;AF_male=0.0170;AF_female=0.0156;AF_raw=0.0164;AF_afr=0.0176;AF_sas=.;AF_amr=0.0038;AF_eas=0.1395;AF_nfe=0.0041;AF_fin=0.0249;AF_asj=0.0176;AF_oth=0.0174;non_topmed_AF_popmax=0.1413;non_neuro_AF_popmax=0.1395;non_cancer_AF_popmax=.;controls_AF_popmax=0.1202;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.654090;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.G36625T:p.V12209L;1000g2015aug_all=0.057508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650053;CLNALLELEID=189642;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_rankscore=0.423;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.425;Polyphen2_HVAR_rankscore=0.435;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.54;FATHMM_converted_rankscore=0.710;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=-1.071;MetaSVM_rankscore=0.091;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.040;REVEL_rankscore=0.108;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.906;CADD_raw_rankscore=0.290;CADD_phred=15.63;DANN_score=0.836;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_rankscore=0.105;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.434;Eigen-PC-raw=-0.519;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.061;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.39;GERP++_RS_rankscore=0.284;phyloP100way_vertebrate=-0.385;phyloP100way_vertebrate_rankscore=0.074;phyloP20way_mammalian=0.005;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=7.463;SiPhy_29way_logOdds_rankscore=0.263;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0287;ExAC_nontcga_AFR=0.0220;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0.2329;ExAC_nontcga_FIN=0.0276;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0584;AF=0.0163;AF_popmax=0.1395;AF_male=0.0170;AF_female=0.0156;AF_raw=0.0164;AF_afr=0.0176;AF_sas=.;AF_amr=0.0038;AF_eas=0.1395;AF_nfe=0.0041;AF_fin=0.0249;AF_asj=0.0176;AF_oth=0.0174;non_topmed_AF_popmax=0.1413;non_neuro_AF_popmax=0.1395;non_cancer_AF_popmax=.;controls_AF_popmax=0.1202;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.654090;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179528335 rs10204913 T C 100 PASS AC=4;AF=0.0698882;AN=214;NS=2504;DP=18827;EAS_AF=0.0228;AMR_AF=0.1455;AFR_AF=0.0106;EUR_AF=0.0328;SAS_AF=0.183;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10204913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0118;ExAC_nontcga_AMR=0.1902;ExAC_nontcga_EAS=0.0236;ExAC_nontcga_FIN=0.0579;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0727;ExAC_nontcga_SAS=0.1631;AF=0.0277;AF_popmax=0.1564;AF_male=0.0270;AF_female=0.0287;AF_raw=0.0278;AF_afr=0.0121;AF_sas=.;AF_amr=0.1564;AF_eas=0.0289;AF_nfe=0.0228;AF_fin=0.0524;AF_asj=0.0276;AF_oth=0.0423;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1545;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0559566;Kaviar_AC=8651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10204913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0658;ExAC_nontcga_AFR=0.0118;ExAC_nontcga_AMR=0.1902;ExAC_nontcga_EAS=0.0236;ExAC_nontcga_FIN=0.0579;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0727;ExAC_nontcga_SAS=0.1631;AF=0.0277;AF_popmax=0.1564;AF_male=0.0270;AF_female=0.0287;AF_raw=0.0278;AF_afr=0.0121;AF_sas=.;AF_amr=0.1564;AF_eas=0.0289;AF_nfe=0.0228;AF_fin=0.0524;AF_asj=0.0276;AF_oth=0.0423;non_topmed_AF_popmax=0.1625;non_neuro_AF_popmax=0.1545;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0559566;Kaviar_AC=8651;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179528378 rs2163008 C T 100 PASS AC=14;AF=0.259185;AN=214;NS=2504;DP=18311;EAS_AF=0.1339;AMR_AF=0.2277;AFR_AF=0.503;EUR_AF=0.0755;SAS_AF=0.2699;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon171:c.G36508A:p.E12170K;1000g2015aug_all=0.259185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2163008;CLNALLELEID=189644;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.127;VEST3_rankscore=0.144;MetaSVM_score=-0.930;MetaSVM_rankscore=0.442;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.900;CADD_raw_rankscore=0.409;CADD_phred=21.9;DANN_score=0.725;DANN_rankscore=0.097;fathmm-MKL_coding_score=0.006;fathmm-MKL_coding_rankscore=0.027;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.621;Eigen-PC-raw=-0.615;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.071;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=0.198;phyloP100way_vertebrate_rankscore=0.169;phyloP20way_mammalian=-0.289;phyloP20way_mammalian_rankscore=0.083;phastCons100way_vertebrate=0.026;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.661;phastCons20way_mammalian_rankscore=0.301;SiPhy_29way_logOdds=7.980;SiPhy_29way_logOdds_rankscore=0.292;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0560;ExAC_nontcga_ALL=0.1537;ExAC_nontcga_AFR=0.4779;ExAC_nontcga_AMR=0.2529;ExAC_nontcga_EAS=0.1329;ExAC_nontcga_FIN=0.1258;ExAC_nontcga_NFE=0.0642;ExAC_nontcga_OTH=0.1334;ExAC_nontcga_SAS=0.2424;AF=0.1865;AF_popmax=0.4619;AF_male=0.1909;AF_female=0.1810;AF_raw=0.1859;AF_afr=0.4619;AF_sas=.;AF_amr=0.2145;AF_eas=0.1248;AF_nfe=0.0575;AF_fin=0.1191;AF_asj=0.0868;AF_oth=0.1134;non_topmed_AF_popmax=0.4626;non_neuro_AF_popmax=0.4555;non_cancer_AF_popmax=.;controls_AF_popmax=0.4588;Kaviar_AF=0.135956;Kaviar_AC=21019;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529273 rs2562849 A G 100 PASS AC=5;AF=0.0367412;AN=214;NS=2504;DP=18261;EAS_AF=0.1002;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0367412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562849;CLNALLELEID=392025;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.084;esp6500siv2_ea=0.0218;ExAC_nontcga_ALL=0.0350;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0364;ExAC_nontcga_EAS=0.1042;ExAC_nontcga_FIN=0.0529;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0323;ExAC_nontcga_SAS=0.0300;AF=0.0258;AF_popmax=0.0874;AF_male=0.0259;AF_female=0.0256;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0874;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0876;non_neuro_AF_popmax=0.0874;non_cancer_AF_popmax=.;controls_AF_popmax=0.0768;Kaviar_AF=0.030834;Kaviar_AC=4767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529497 rs2742353 T G 100 PASS AC=5;AF=0.0369409;AN=214;NS=2504;DP=17557;EAS_AF=0.1012;AMR_AF=0.0288;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0337;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0353;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0368;ExAC_nontcga_EAS=0.1072;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0304;AF=0.0257;AF_popmax=0.0862;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0862;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0864;non_neuro_AF_popmax=0.0862;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0304977;Kaviar_AC=4715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0216;ExAC_nontcga_ALL=0.0353;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0368;ExAC_nontcga_EAS=0.1072;ExAC_nontcga_FIN=0.0531;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0304;AF=0.0257;AF_popmax=0.0862;AF_male=0.0259;AF_female=0.0255;AF_raw=0.0258;AF_afr=0.0051;AF_sas=.;AF_amr=0.0236;AF_eas=0.0862;AF_nfe=0.0249;AF_fin=0.0524;AF_asj=0.0379;AF_oth=0.0295;non_topmed_AF_popmax=0.0864;non_neuro_AF_popmax=0.0862;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0304977;Kaviar_AC=4715;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179529584 rs567187864 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17981;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon166:c.T36113A:p.V12038D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567187864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.559;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.497;Polyphen2_HVAR_rankscore=0.457;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.143;VEST3_rankscore=0.248;MetaSVM_score=-1.039;MetaSVM_rankscore=0.177;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.210;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.442;M-CAP_pred=T;REVEL_score=0.068;REVEL_rankscore=0.203;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.012;CADD_raw_rankscore=0.303;CADD_phred=16.29;DANN_score=0.951;DANN_rankscore=0.257;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_rankscore=0.079;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.351;Eigen-PC-raw=-0.453;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=0.138;GERP++_RS_rankscore=0.140;phyloP100way_vertebrate=-0.994;phyloP100way_vertebrate_rankscore=0.038;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=5.876;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.097e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.134e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.139021;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179531693 rs2562850 A G 100 PASS AC=3;AF=0.0309505;AN=214;NS=2504;DP=18085;EAS_AF=0.1012;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0061;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0248;AF_popmax=0.0872;AF_male=0.0251;AF_female=0.0245;AF_raw=0.0248;AF_afr=0.0048;AF_sas=.;AF_amr=0.0236;AF_eas=0.0872;AF_nfe=0.0233;AF_fin=0.0521;AF_asj=0.0310;AF_oth=0.0295;non_topmed_AF_popmax=0.0874;non_neuro_AF_popmax=0.0872;non_cancer_AF_popmax=.;controls_AF_popmax=0.0775;Kaviar_AF=0.0048512;Kaviar_AC=750;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179534224 rs577006868 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16088;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577006868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.564e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.628e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=6.467e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.193e-05;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577006868;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.564e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.628e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=6.467e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.193e-05;AF=0.0001;AF_popmax=0.0001;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179534225 rs150597207 G A 100 PASS AC=3;AF=0.00838658;AN=214;NS=2504;DP=16093;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150597207;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0217;AF_male=0.0169;AF_female=0.0198;AF_raw=0.0182;AF_afr=0.0031;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0314;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0032923;Kaviar_AC=509;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150597207;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0182;AF_popmax=0.0217;AF_male=0.0169;AF_female=0.0198;AF_raw=0.0182;AF_afr=0.0031;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0438;AF_asj=0.0379;AF_oth=0.0314;non_topmed_AF_popmax=0.0223;non_neuro_AF_popmax=0.0220;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0032923;Kaviar_AC=509;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179535068 rs191019610 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12748;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191019610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.223e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179537200 rs202014478 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15706;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon149:c.G30961A:p.V10321I,TTN:NM_001256850:exon150:c.G33742A:p.V11248I,TTN:NM_001267550:exon154:c.G34864A:p.V11622I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202014478;CLNALLELEID=56074;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.268;SIFT_converted_rankscore=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.195;MutationAssessor_score_rankscore=0.303;MutationAssessor_pred=L;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-0.28;PROVEAN_converted_rankscore=0.116;PROVEAN_pred=N;VEST3_score=0.104;VEST3_rankscore=0.143;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.164;MetaLR_rankscore=0.501;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.522;M-CAP_pred=D;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.829;CADD_raw_rankscore=0.401;CADD_phred=21.5;DANN_score=0.961;DANN_rankscore=0.282;fathmm-MKL_coding_score=0.155;fathmm-MKL_coding_rankscore=0.187;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.250;Eigen-PC-raw=-0.122;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.111;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=0.003;phyloP100way_vertebrate_rankscore=0.129;phyloP20way_mammalian=0.036;phyloP20way_mammalian_rankscore=0.152;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=9.275;SiPhy_29way_logOdds_rankscore=0.367;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0001;AF=0.0026;AF_popmax=0.0043;AF_male=0.0029;AF_female=0.0021;AF_raw=0.0026;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0043;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0034152;Kaviar_AC=528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.025657;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179538492 rs72650050 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=15367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650050;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0035;AF_popmax=0.0053;AF_male=0.0029;AF_female=0.0041;AF_raw=0.0035;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0052;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539803 rs537187311 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16709;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon145:c.C30672T:p.I10224I,TTN:NM_001256850:exon146:c.C33453T:p.I11151I,TTN:NM_001267550:exon150:c.C34575T:p.I11525I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537187311;CLNALLELEID=586677;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.084435;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539812 rs140640738 T G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16343;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140640738;CLNALLELEID=56069;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.226;SIFT_converted_rankscore=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.256;Polyphen2_HDIV_rankscore=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_rankscore=0.269;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-0.99;FATHMM_converted_rankscore=0.762;FATHMM_pred=T;PROVEAN_score=-1.17;PROVEAN_converted_rankscore=0.299;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.149;MetaSVM_score=-0.656;MetaSVM_rankscore=0.625;MetaSVM_pred=T;MetaLR_score=0.287;MetaLR_rankscore=0.659;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.114;REVEL_rankscore=0.325;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.654;CADD_raw_rankscore=0.260;CADD_phred=14.15;DANN_score=0.793;DANN_rankscore=0.122;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.240;Eigen-PC-raw=-0.184;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.084;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.31;GERP++_RS_rankscore=0.369;phyloP100way_vertebrate=0.842;phyloP100way_vertebrate_rankscore=0.271;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.955;phastCons100way_vertebrate_rankscore=0.331;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.624;SiPhy_29way_logOdds_rankscore=0.272;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0239;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179539903 rs2472751 C A 100 PASS AC=54;AF=0.471246;AN=214;NS=2504;DP=15744;EAS_AF=0.5784;AMR_AF=0.4049;AFR_AF=0.5711;EUR_AF=0.2336;SAS_AF=0.5174;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471246;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2472751;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2126;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3338;AF_popmax=0.5750;AF_male=0.3399;AF_female=0.3261;AF_raw=0.3334;AF_afr=0.5368;AF_sas=.;AF_amr=0.4033;AF_eas=0.5750;AF_nfe=0.2179;AF_fin=0.2397;AF_asj=0.2241;AF_oth=0.2795;non_topmed_AF_popmax=0.5716;non_neuro_AF_popmax=0.5750;non_cancer_AF_popmax=.;controls_AF_popmax=0.5813;Kaviar_AF=0.0584663;Kaviar_AC=9039;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.250988::0.17259;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179540461 rs182428755 G T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15903;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon149:c.C34474A:p.P11492T;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182428755;CLNALLELEID=238516;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.12;FATHMM_converted_rankscore=0.611;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.111;VEST3_rankscore=0.120;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.67;DANN_score=0.697;DANN_rankscore=0.088;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.534;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=n;Eigen-raw=1.692;Eigen-PC-raw=0.097;GenoCanyon_score=0.013;GenoCanyon_score_rankscore=0.124;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.330;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=0.672;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.935;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=6.575;SiPhy_29way_logOdds_rankscore=0.216;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.1039;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0028;AF_popmax=0.0039;AF_male=0.0030;AF_female=0.0026;AF_raw=0.0028;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0006;AF_asj=0.0310;AF_oth=0.0046;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.741684;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179541899 rs2742351 C G 100 PASS AC=148;AF=0.773363;AN=214;NS=2504;DP=9055;EAS_AF=0.7649;AMR_AF=0.6571;AFR_AF=0.7791;EUR_AF=0.7445;SAS_AF=0.8865;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.773363;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.788;ExAC_nontcga_AFR=0.7742;ExAC_nontcga_AMR=0.7593;ExAC_nontcga_EAS=0.3571;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.6667;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.8774;AF=0.7644;AF_popmax=0.7869;AF_male=0.7618;AF_female=0.7676;AF_raw=0.7645;AF_afr=0.7869;AF_sas=.;AF_amr=0.6445;AF_eas=0.7379;AF_nfe=0.7498;AF_fin=0.8313;AF_asj=0.5448;AF_oth=0.7748;non_topmed_AF_popmax=0.7879;non_neuro_AF_popmax=0.7794;non_cancer_AF_popmax=.;controls_AF_popmax=0.7870;Kaviar_AF=0.111965;Kaviar_AC=17310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 1|0 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 0|1 1|0 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|0 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 1|1 0|0 1|0 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|1 1|0 +2 179542046 rs577130532 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7077;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577130532;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0833;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +2 179542068 rs545894786 T C 100 PASS AC=4;AF=0.0666933;AN=214;NS=2504;DP=6095;EAS_AF=0.0228;AMR_AF=0.1326;AFR_AF=0.0113;EUR_AF=0.0328;SAS_AF=0.1748;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545894786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0006;AF_raw=0.0028;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0029;AF_asj=0;AF_oth=0.0014;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179542674 rs72650048 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19246;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650048;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0176;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0009;AF=0.0076;AF_popmax=0.0101;AF_male=0.0076;AF_female=0.0078;AF_raw=0.0076;AF_afr=0.0013;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0161;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0104;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0074;Kaviar_AF=0.0068628;Kaviar_AC=1061;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179543217 rs35112591 C T 100 PASS AC=40;AF=0.238419;AN=214;NS=2504;DP=13346;EAS_AF=0.4454;AMR_AF=0.183;AFR_AF=0.1362;EUR_AF=0.1581;SAS_AF=0.2853;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon141:c.G30102A:p.E10034E,TTN:NM_001256850:exon142:c.G32883A:p.E10961E,TTN:NM_001267550:exon144:c.G33834A:p.E11278E;1000g2015aug_all=0.238419;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35112591;CLNALLELEID=56059;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1604;ExAC_nontcga_ALL=0.2705;ExAC_nontcga_AFR=0.1804;ExAC_nontcga_AMR=0.2933;ExAC_nontcga_EAS=0.5113;ExAC_nontcga_FIN=0.1627;ExAC_nontcga_NFE=0.2426;ExAC_nontcga_OTH=0.2546;ExAC_nontcga_SAS=0.2997;AF=0.1663;AF_popmax=0.4483;AF_male=0.1681;AF_female=0.1641;AF_raw=0.1660;AF_afr=0.1388;AF_sas=.;AF_amr=0.1964;AF_eas=0.4483;AF_nfe=0.1617;AF_fin=0.1210;AF_asj=0.1517;AF_oth=0.1753;non_topmed_AF_popmax=0.4450;non_neuro_AF_popmax=0.4483;non_cancer_AF_popmax=.;controls_AF_popmax=0.4637;Kaviar_AF=0.172566;Kaviar_AC=26679;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.15444::0.201657;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.837761;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179543382 rs575431423 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15732;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs575431423;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.194e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179543399 rs143594088 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16118;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143594088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179544701 rs551754978 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19243;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon137:c.T29768C:p.V9923A,TTN:NM_001256850:exon138:c.T32549C:p.V10850A,TTN:NM_001267550:exon140:c.T33500C:p.V11167A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551754978;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.649;SIFT_converted_rankscore=0.049;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.348;PROVEAN_pred=N;VEST3_score=0.125;VEST3_rankscore=0.192;MetaSVM_score=-0.953;MetaSVM_rankscore=0.406;MetaSVM_pred=T;MetaLR_score=0.134;MetaLR_rankscore=0.448;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.268;M-CAP_pred=T;REVEL_score=0.044;REVEL_rankscore=0.123;MutPred_score=0.217;MutPred_rankscore=0.138;CADD_raw=0.576;CADD_raw_rankscore=0.149;CADD_phred=7.986;DANN_score=0.723;DANN_rankscore=0.096;fathmm-MKL_coding_score=0.174;fathmm-MKL_coding_rankscore=0.196;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.628;Eigen-PC-raw=-0.629;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.083;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.04;GERP++_RS_rankscore=0.191;phyloP100way_vertebrate=0.509;phyloP100way_vertebrate_rankscore=0.223;phyloP20way_mammalian=0.148;phyloP20way_mammalian_rankscore=0.236;phastCons100way_vertebrate=0.048;phastCons100way_vertebrate_rankscore=0.211;phastCons20way_mammalian=0.954;phastCons20way_mammalian_rankscore=0.431;SiPhy_29way_logOdds=2.780;SiPhy_29way_logOdds_rankscore=0.050;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.506e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1678488|N/A|GATA2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.359923;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179544983 rs72650040 C G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20214;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon136:c.G29684C:p.R9895T,TTN:NM_001256850:exon137:c.G32465C:p.R10822T,TTN:NM_001267550:exon139:c.G33416C:p.R11139T;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650040;CLNALLELEID=56053;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.35;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.179;VEST3_rankscore=0.261;MetaSVM_score=-1.017;MetaSVM_rankscore=0.246;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.434;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.507;M-CAP_pred=D;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.435;CADD_raw_rankscore=0.235;CADD_phred=12.97;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.295;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.821;Eigen-PC-raw=-0.718;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.085;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.55;GERP++_RS_rankscore=0.222;phyloP100way_vertebrate=-0.307;phyloP100way_vertebrate_rankscore=0.081;phyloP20way_mammalian=-0.382;phyloP20way_mammalian_rankscore=0.065;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=4.319;SiPhy_29way_logOdds_rankscore=0.104;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0013;AF_popmax=0.0047;AF_male=0.0010;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0005;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015718;Kaviar_AC=243;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.235671;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545107 rs140681346 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20023;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140681346;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.723e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545177 rs144376839 C T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=19563;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144376839;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0009;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0006;AF_raw=0.0009;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179545859 rs36051007 C T 100 PASS AC=49;AF=0.125998;AN=214;NS=2504;DP=17999;EAS_AF=0.0357;AMR_AF=0.1124;AFR_AF=0.0068;EUR_AF=0.3062;SAS_AF=0.2045;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon135:c.G29555A:p.R9852H,TTN:NM_001256850:exon136:c.G32336A:p.R10779H,TTN:NM_001267550:exon138:c.G33287A:p.R11096H;1000g2015aug_all=0.125998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36051007;CLNALLELEID=56051;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.418;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.250;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.0;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.043;MetaSVM_score=-1.023;MetaSVM_rankscore=0.226;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.302;CADD_raw_rankscore=0.338;CADD_phred=18.18;DANN_score=0.845;DANN_rankscore=0.148;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.062;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.152;Eigen-PC-raw=-1.110;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.76;GERP++_RS_rankscore=0.055;phyloP100way_vertebrate=-2.082;phyloP100way_vertebrate_rankscore=0.014;phyloP20way_mammalian=-0.704;phyloP20way_mammalian_rankscore=0.037;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.834;phastCons20way_mammalian_rankscore=0.348;SiPhy_29way_logOdds=4.624;SiPhy_29way_logOdds_rankscore=0.118;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000270574.1;GTEx_V6p_tissue=Heart_Left_Ventricle;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3031;ExAC_nontcga_ALL=0.2310;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0978;ExAC_nontcga_EAS=0.0340;ExAC_nontcga_FIN=0.3948;ExAC_nontcga_NFE=0.3004;ExAC_nontcga_OTH=0.2632;ExAC_nontcga_SAS=0.2133;AF=0.2348;AF_popmax=0.3249;AF_male=0.2266;AF_female=0.2450;AF_raw=0.2347;AF_afr=0.0508;AF_sas=.;AF_amr=0.1295;AF_eas=0.0431;AF_nfe=0.3249;AF_fin=0.3916;AF_asj=0.1897;AF_oth=0.3013;non_topmed_AF_popmax=0.3342;non_neuro_AF_popmax=0.3221;non_cancer_AF_popmax=.;controls_AF_popmax=0.3500;Kaviar_AF=0.234117;Kaviar_AC=36195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.885390;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179547455 rs115744476 T C 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=18221;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.A29331G:p.E9777E,TTN:NM_001256850:exon133:c.A32112G:p.E10704E,TTN:NM_001267550:exon135:c.A33063G:p.E11021E;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115744476;CLNALLELEID=56049;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0080;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0016;AF=0.0051;AF_popmax=0.0091;AF_male=0.0055;AF_female=0.0045;AF_raw=0.0051;AF_afr=0.0008;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0091;AF_fin=0;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0089;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0056985;Kaviar_AC=881;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179547465 rs72650034 C T 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=18256;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.G29321A:p.R9774Q,TTN:NM_001256850:exon133:c.G32102A:p.R10701Q,TTN:NM_001267550:exon135:c.G33053A:p.R11018Q;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650034;CLNALLELEID=56047;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.302;SIFT_converted_rankscore=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.178;Polyphen2_HDIV_rankscore=0.273;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_rankscore=0.193;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.42;FATHMM_converted_rankscore=0.695;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.265;MetaSVM_score=-0.981;MetaSVM_rankscore=0.347;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.428;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.377;M-CAP_pred=T;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.213;CADD_raw_rankscore=0.211;CADD_phred=11.82;DANN_score=0.611;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.085;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.179;Eigen-PC-raw=-1.147;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.057;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.16;GERP++_RS_rankscore=0.265;phyloP100way_vertebrate=0.312;phyloP100way_vertebrate_rankscore=0.190;phyloP20way_mammalian=0.016;phyloP20way_mammalian_rankscore=0.142;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.021;phastCons20way_mammalian_rankscore=0.135;SiPhy_29way_logOdds=7.721;SiPhy_29way_logOdds_rankscore=0.277;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0011;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179547860 rs2303828 A G 100 PASS AC=45;AF=0.284944;AN=214;NS=2504;DP=18499;EAS_AF=0.4593;AMR_AF=0.2017;AFR_AF=0.2648;EUR_AF=0.1759;SAS_AF=0.3037;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.284944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2095;AF_popmax=0.4568;AF_male=0.2137;AF_female=0.2042;AF_raw=0.2095;AF_afr=0.2668;AF_sas=.;AF_amr=0.2138;AF_eas=0.4568;AF_nfe=0.1709;AF_fin=0.1341;AF_asj=0.1552;AF_oth=0.1956;non_topmed_AF_popmax=0.4530;non_neuro_AF_popmax=0.4568;non_cancer_AF_popmax=.;controls_AF_popmax=0.4736;Kaviar_AF=0.0357693;Kaviar_AC=5530;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179548633 rs577865235 C CT 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=16760;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0266;AA=?|TTTTTTTTT|TTTTTTTTTT|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577865235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0004;AF_asj=0.0070;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0003842;Kaviar_AC=10;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179548704 rs72650033 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14555;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0012;AF=0.0019;AF_popmax=0.0029;AF_male=0.0017;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0012;AF_asj=0.0174;AF_oth=0.0047;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0017982;Kaviar_AC=278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549048 rs148231130 C T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17319;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148231130;CLNALLELEID=56041;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0111;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0125;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0035;AF=0.0070;AF_popmax=0.0106;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0026;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0058;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0097;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0081629;Kaviar_AC=1262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549131 rs116676813 C T 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=17513;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon129:c.G28916A:p.R9639K,TTN:NM_001256850:exon130:c.G31697A:p.R10566K,TTN:NM_001267550:exon132:c.G32648A:p.R10883K;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116676813;CLNALLELEID=56039;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.139;VEST3_rankscore=0.195;MetaSVM_score=-1.034;MetaSVM_rankscore=0.191;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_rankscore=0.164;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.951;CADD_raw_rankscore=0.415;CADD_phred=22.1;DANN_score=0.916;DANN_rankscore=0.203;fathmm-MKL_coding_score=0.510;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.450;Eigen-PC-raw=-0.302;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.053;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.43;GERP++_RS_rankscore=0.215;phyloP100way_vertebrate=0.259;phyloP100way_vertebrate_rankscore=0.180;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.756;phastCons100way_vertebrate_rankscore=0.290;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=1.088;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0180;ExAC_nontcga_ALL=0.0122;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0303;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0036;AF=0.0133;AF_popmax=0.0169;AF_male=0.0129;AF_female=0.0139;AF_raw=0.0133;AF_afr=0.0031;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0291;AF_asj=0;AF_oth=0.0202;non_topmed_AF_popmax=0.0164;non_neuro_AF_popmax=0.0169;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0120956;Kaviar_AC=1870;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.899228;ALLELE_END;VINYL_score=2.5 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549407 rs72650031 G A 100 PASS AC=4;AF=0.00179712;AN=214;NS=2504;DP=14870;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650031;CLNALLELEID=56038;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.953;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-4.2;PROVEAN_converted_rankscore=0.757;PROVEAN_pred=D;VEST3_score=0.297;VEST3_rankscore=0.357;MetaSVM_score=-0.886;MetaSVM_rankscore=0.493;MetaSVM_pred=T;MetaLR_score=0.128;MetaLR_rankscore=0.436;MetaLR_pred=T;M-CAP_score=0.068;M-CAP_rankscore=0.703;M-CAP_pred=D;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.586;CADD_raw_rankscore=0.372;CADD_phred=20.1;DANN_score=0.834;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.155;Eigen-PC-raw=-0.006;GenoCanyon_score=0.031;GenoCanyon_score_rankscore=0.140;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=1.502;phyloP100way_vertebrate_rankscore=0.351;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=9.833;SiPhy_29way_logOdds_rankscore=0.399;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0020;AF=0.0042;AF_popmax=0.0062;AF_male=0.0048;AF_female=0.0034;AF_raw=0.0041;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0062;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0037;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0063;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0051552;Kaviar_AC=797;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.752270;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +2 179549474 rs201738153 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13980;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28825T:p.P9609S,TTN:NM_001256850:exon129:c.C31606T:p.P10536S,TTN:NM_001267550:exon131:c.C32557T:p.P10853S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201738153;CLNALLELEID=56036;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.051;SIFT_converted_rankscore=0.393;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.44;FATHMM_converted_rankscore=0.698;FATHMM_pred=T;PROVEAN_score=-3.61;PROVEAN_converted_rankscore=0.694;PROVEAN_pred=D;VEST3_score=0.219;VEST3_rankscore=0.314;MetaSVM_score=-0.660;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_rankscore=0.616;MetaLR_pred=T;M-CAP_score=0.068;M-CAP_rankscore=0.704;M-CAP_pred=D;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.695;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.929;DANN_rankscore=0.218;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_rankscore=0.396;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.033;Eigen-PC-raw=0.098;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.119;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=4.187;phyloP100way_vertebrate_rankscore=0.579;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=8.787;SiPhy_29way_logOdds_rankscore=0.338;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.561560;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549500 rs112303999 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=14094;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112303999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0233;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0017;Kaviar_AF=0.0036869;Kaviar_AC=570;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549608 rs545003257 G GA 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=15704;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=AA|A|AA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545003257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0028;ExAC_nontcga_SAS=0.0256;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0033505;Kaviar_AC=518;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179549707 rs72650030 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=14894;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon127:c.C28748T:p.A9583V,TTN:NM_001256850:exon128:c.C31529T:p.A10510V,TTN:NM_001267550:exon130:c.C32480T:p.A10827V;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650030;CLNALLELEID=56033;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.773;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=-0.68;PROVEAN_converted_rankscore=0.195;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.162;MetaSVM_score=-1.075;MetaSVM_rankscore=0.083;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_rankscore=0.334;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.420;M-CAP_pred=T;REVEL_score=0.100;REVEL_rankscore=0.292;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.765;CADD_raw_rankscore=0.393;CADD_phred=21.2;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.330;fathmm-MKL_coding_rankscore=0.245;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.553;Eigen-PC-raw=-0.372;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.08;GERP++_RS_rankscore=0.260;phyloP100way_vertebrate=0.804;phyloP100way_vertebrate_rankscore=0.266;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=5.454;SiPhy_29way_logOdds_rankscore=0.158;Interpro_domain=Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0011;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0011;AF_raw=0.0011;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0024;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0016106;Kaviar_AC=249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.297516;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550069 rs16866434 T C 100 PASS AC=5;AF=0.0329473;AN=214;NS=2504;DP=15886;EAS_AF=0.0119;AMR_AF=0.0173;AFR_AF=0.084;EUR_AF=0.0129;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866434;CLNALLELEID=56031;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0006;dbscSNV_RF_SCORE=0.168;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0225;ExAC_nontcga_AFR=0.0806;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0.0080;ExAC_nontcga_FIN=0.0541;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0078;ExAC_nontcga_SAS=0.0185;AF=0.0261;AF_popmax=0.0707;AF_male=0.0277;AF_female=0.0240;AF_raw=0.0261;AF_afr=0.0707;AF_sas=.;AF_amr=0.0153;AF_eas=0.0071;AF_nfe=0.0073;AF_fin=0.0133;AF_asj=0.0034;AF_oth=0.0166;non_topmed_AF_popmax=0.0709;non_neuro_AF_popmax=0.0673;non_cancer_AF_popmax=.;controls_AF_popmax=0.0638;Kaviar_AF=0.00815;Kaviar_AC=1260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.283838;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550302 rs531675493 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17770;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon125:c.G28603A:p.V9535I,TTN:NM_001256850:exon126:c.G31384A:p.V10462I,TTN:NM_001267550:exon128:c.G32335A:p.V10779I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531675493;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.477;SIFT_converted_rankscore=0.083;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.15;FATHMM_converted_rankscore=0.652;FATHMM_pred=T;PROVEAN_score=-0.39;PROVEAN_converted_rankscore=0.136;PROVEAN_pred=N;VEST3_score=0.063;VEST3_rankscore=0.048;MetaSVM_score=-1.020;MetaSVM_rankscore=0.236;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.413;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.398;M-CAP_pred=T;REVEL_score=0.112;REVEL_rankscore=0.321;MutPred_score=0.099;MutPred_rankscore=0.014;CADD_raw=2.215;CADD_raw_rankscore=0.327;CADD_phred=17.61;DANN_score=0.904;DANN_rankscore=0.190;fathmm-MKL_coding_score=0.896;fathmm-MKL_coding_rankscore=0.499;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.524;Eigen-PC-raw=-0.336;GenoCanyon_score=0.012;GenoCanyon_score_rankscore=0.123;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=0.668;phyloP100way_vertebrate_rankscore=0.246;phyloP20way_mammalian=0.059;phyloP20way_mammalian_rankscore=0.165;phastCons100way_vertebrate=0.951;phastCons100way_vertebrate_rankscore=0.329;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=6.614;SiPhy_29way_logOdds_rankscore=0.218;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.885663;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179550393 rs145357435 T G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18377;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145357435;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553542 rs72650027 G T 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=19151;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0187;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0304;ExAC_nontcga_NFE=0.0183;ExAC_nontcga_OTH=0.0075;ExAC_nontcga_SAS=0.0038;AF=0.0135;AF_popmax=0.0173;AF_male=0.0132;AF_female=0.0140;AF_raw=0.0136;AF_afr=0.0031;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0173;AF_fin=0.0288;AF_asj=0.0069;AF_oth=0.0203;non_topmed_AF_popmax=0.0168;non_neuro_AF_popmax=0.0173;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0123737;Kaviar_AC=1913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553566 rs72650026 A G 100 PASS AC=5;AF=0.00658946;AN=214;NS=2504;DP=19034;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0153;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650026;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0040;AF_popmax=0.0083;AF_male=0.0046;AF_female=0.0032;AF_raw=0.0040;AF_afr=0.0011;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0065;AF_fin=0;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0013583;Kaviar_AC=210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553730 rs535589169 ATTTTTTTT A 100 PASS AC=7;AF=0.110423;AN=214;NS=2504;DP=19120;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.2844;EUR_AF=0.0378;SAS_AF=0.1217;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.110423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535589169;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0126;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0054;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179553781 rs536836191 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=13461;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.A28362G:p.R9454R,TTN:NM_001256850:exon123:c.A31143G:p.R10381R,TTN:NM_001267550:exon125:c.A32094G:p.R10698R;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536836191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9996;dbscSNV_RF_SCORE=0.986;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553787 rs543069197 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=15019;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28356C:p.P9452P,TTN:NM_001256850:exon123:c.T31137C:p.P10379P,TTN:NM_001267550:exon125:c.T32088C:p.P10696P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543069197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553790 rs553209476 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14058;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28353C:p.P9451P,TTN:NM_001256850:exon123:c.T31134C:p.P10378P,TTN:NM_001267550:exon125:c.T32085C:p.P10695P;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553209476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.841759;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553793 rs573164836 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=14206;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon122:c.T28350C:p.A9450A,TTN:NM_001256850:exon123:c.T31131C:p.A10377A,TTN:NM_001267550:exon125:c.T32082C:p.A10694A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573164836;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.738733;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179553917 rs2627038 G A 100 PASS AC=14;AF=0.261581;AN=214;NS=2504;DP=18266;EAS_AF=0.129;AMR_AF=0.2305;AFR_AF=0.5091;EUR_AF=0.0755;SAS_AF=0.2771;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.261581;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0550;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1856;AF_popmax=0.4622;AF_male=0.1901;AF_female=0.1799;AF_raw=0.1864;AF_afr=0.4622;AF_sas=.;AF_amr=0.2131;AF_eas=0.1194;AF_nfe=0.0574;AF_fin=0.1186;AF_asj=0.0862;AF_oth=0.1116;non_topmed_AF_popmax=0.4630;non_neuro_AF_popmax=0.4544;non_cancer_AF_popmax=.;controls_AF_popmax=0.4558;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179554305 rs2244492 C T 100 PASS AC=63;AF=0.413339;AN=214;NS=2504;DP=19129;EAS_AF=0.1677;AMR_AF=0.3501;AFR_AF=0.6067;EUR_AF=0.3827;SAS_AF=0.4816;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon120:c.G28132A:p.G9378R,TTN:NM_001256850:exon121:c.G30913A:p.G10305R,TTN:NM_001267550:exon123:c.G31864A:p.G10622R;1000g2015aug_all=0.413339;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244492;CLNALLELEID=56024;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.801;SIFT_converted_rankscore=0.032;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=1.8;PROVEAN_converted_rankscore=0.005;PROVEAN_pred=N;VEST3_score=0.118;VEST3_rankscore=0.275;MetaSVM_score=-0.948;MetaSVM_rankscore=0.414;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.097;CADD_raw_rankscore=0.550;CADD_phred=23.7;DANN_score=0.921;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.007;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.246;Eigen-PC-raw=-0.138;GenoCanyon_score=0.023;GenoCanyon_score_rankscore=0.135;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=1.718;phyloP100way_vertebrate_rankscore=0.374;phyloP20way_mammalian=0.044;phyloP20way_mammalian_rankscore=0.157;phastCons100way_vertebrate=0.083;phastCons100way_vertebrate_rankscore=0.222;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=10.226;SiPhy_29way_logOdds_rankscore=0.422;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3605;ExAC_nontcga_ALL=0.4025;ExAC_nontcga_AFR=0.6136;ExAC_nontcga_AMR=0.3610;ExAC_nontcga_EAS=0.1744;ExAC_nontcga_FIN=0.5181;ExAC_nontcga_NFE=0.3711;ExAC_nontcga_OTH=0.4085;ExAC_nontcga_SAS=0.4642;AF=0.4463;AF_popmax=0.6009;AF_male=0.4426;AF_female=0.4508;AF_raw=0.4463;AF_afr=0.6009;AF_sas=.;AF_amr=0.3593;AF_eas=0.1667;AF_nfe=0.3829;AF_fin=0.5101;AF_asj=0.2759;AF_oth=0.4191;non_topmed_AF_popmax=0.6020;non_neuro_AF_popmax=0.5929;non_cancer_AF_popmax=.;controls_AF_popmax=0.5944;Kaviar_AF=0.373372;Kaviar_AC=57724;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.163603;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179554549 rs200213832 G C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19184;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon119:c.C28105G:p.P9369A,TTN:NM_001256850:exon120:c.C30886G:p.P10296A,TTN:NM_001267550:exon122:c.C31837G:p.P10613A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200213832;CLNALLELEID=56023;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.474;Polyphen2_HDIV_rankscore=0.512;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.396;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.703;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.67;FATHMM_converted_rankscore=0.725;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_converted_rankscore=0.928;PROVEAN_pred=D;VEST3_score=0.256;VEST3_rankscore=0.403;MetaSVM_score=-0.209;MetaSVM_rankscore=0.774;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_rankscore=0.730;MetaLR_pred=T;M-CAP_score=0.054;M-CAP_rankscore=0.659;M-CAP_pred=D;REVEL_score=0.303;REVEL_rankscore=0.628;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.700;CADD_raw_rankscore=0.265;CADD_phred=14.41;DANN_score=0.981;DANN_rankscore=0.380;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.702;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.354;Eigen-PC-raw=0.386;GenoCanyon_score=0.183;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=3.016;phyloP100way_vertebrate_rankscore=0.490;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.896;SiPhy_29way_logOdds_rankscore=0.790;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.390007;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179558282 rs2255167 T A 100 PASS AC=50;AF=0.322284;AN=214;NS=2504;DP=15496;EAS_AF=0.5446;AMR_AF=0.2334;AFR_AF=0.2784;EUR_AF=0.2048;SAS_AF=0.3364;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.322284;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2255167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2361;AF_popmax=0.5353;AF_male=0.2407;AF_female=0.2304;AF_raw=0.2364;AF_afr=0.2791;AF_sas=.;AF_amr=0.2388;AF_eas=0.5353;AF_nfe=0.1945;AF_fin=0.1867;AF_asj=0.1910;AF_oth=0.2210;non_topmed_AF_popmax=0.5329;non_neuro_AF_popmax=0.5353;non_cancer_AF_popmax=.;controls_AF_popmax=0.5469;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204198::0.175385;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179558366 rs2042995 T C 100 PASS AC=55;AF=0.477835;AN=214;NS=2504;DP=17705;EAS_AF=0.5685;AMR_AF=0.4193;AFR_AF=0.5877;EUR_AF=0.2455;SAS_AF=0.5164;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V;1000g2015aug_all=0.477835;GWAS=rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971;ORegAnno_REGULATORY_P=rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971;avsnp150=rs2042995;CLNALLELEID=56017;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.023;VEST3_rankscore=0.176;MetaSVM_score=-1.002;MetaSVM_rankscore=0.292;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.077;REVEL_rankscore=0.230;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.533;CADD_raw_rankscore=0.246;CADD_phred=13.49;DANN_score=0.713;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.108;fathmm-MKL_coding_rankscore=0.160;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.181;Eigen-PC-raw=0.002;GenoCanyon_score=0.197;GenoCanyon_score_rankscore=0.181;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.85;GERP++_RS_rankscore=0.936;phyloP100way_vertebrate=1.455;phyloP100way_vertebrate_rankscore=0.346;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=9.311;SiPhy_29way_logOdds_rankscore=0.369;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2286;ExAC_nontcga_ALL=0.3624;ExAC_nontcga_AFR=0.5698;ExAC_nontcga_AMR=0.4494;ExAC_nontcga_EAS=0.5750;ExAC_nontcga_FIN=0.2636;ExAC_nontcga_NFE=0.2475;ExAC_nontcga_OTH=0.3262;ExAC_nontcga_SAS=0.4996;AF=0.3429;AF_popmax=0.5655;AF_male=0.3489;AF_female=0.3354;AF_raw=0.3429;AF_afr=0.5502;AF_sas=.;AF_amr=0.4194;AF_eas=0.5655;AF_nfe=0.2276;AF_fin=0.2442;AF_asj=0.2241;AF_oth=0.2851;non_topmed_AF_popmax=0.5632;non_neuro_AF_popmax=0.5655;non_cancer_AF_popmax=.;controls_AF_popmax=0.5775;Kaviar_AF=0.327027;Kaviar_AC=50559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.986405;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179563622 rs573246972 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=12958;EAS_AF=0.002;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.006;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon109:c.G26970A:p.K8990K,TTN:NM_001256850:exon110:c.G29751A:p.K9917K,TTN:NM_001267550:exon112:c.G30702A:p.K10234K;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573246972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.845248;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179563702 rs116053231 C T 100 PASS AC=8;AF=0.00938498;AN=214;NS=2504;DP=16342;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0278;SAS_AF=0.0072;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116053231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0168;AF_popmax=0.0257;AF_male=0.0156;AF_female=0.0183;AF_raw=0.0168;AF_afr=0.0040;AF_sas=.;AF_amr=0.0077;AF_eas=0.0013;AF_nfe=0.0257;AF_fin=0.0203;AF_asj=0.0069;AF_oth=0.0150;non_topmed_AF_popmax=0.0266;non_neuro_AF_popmax=0.0260;non_cancer_AF_popmax=.;controls_AF_popmax=0.0317;Kaviar_AF=0.0161365;Kaviar_AC=420;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179566398 rs144688772 C G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19707;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144688772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0017;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0020363;Kaviar_AC=53;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179566802 rs397517532 T TA 100 PASS AC=6;AF=0.130192;AN=214;NS=2504;DP=17896;EAS_AF=0.0278;AMR_AF=0.1585;AFR_AF=0.2224;EUR_AF=0.0378;SAS_AF=0.1861;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.130192;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517532;CLNALLELEID=56003;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0286;ExAC_nontcga_ALL=0.1160;ExAC_nontcga_AFR=0.2371;ExAC_nontcga_AMR=0.2589;ExAC_nontcga_EAS=0.0393;ExAC_nontcga_FIN=0.0672;ExAC_nontcga_NFE=0.0452;ExAC_nontcga_OTH=0.1126;ExAC_nontcga_SAS=0.2185;AF=0.0831;AF_popmax=0.1895;AF_male=0.0842;AF_female=0.0817;AF_raw=0.0793;AF_afr=0.1895;AF_sas=.;AF_amr=0.1779;AF_eas=0.0331;AF_nfe=0.0277;AF_fin=0.0652;AF_asj=0.0336;AF_oth=0.0564;non_topmed_AF_popmax=0.1906;non_neuro_AF_popmax=0.1823;non_cancer_AF_popmax=.;controls_AF_popmax=0.1895;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567230 rs188584219 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18384;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.T26652C:p.D8884D,TTN:NM_001256850:exon105:c.T29433C:p.D9811D,TTN:NM_001267550:exon107:c.T30384C:p.D10128D;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188584219;CLNALLELEID=55998;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036545;Kaviar_AC=565;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.300910;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567340 rs72650011 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19064;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon104:c.C26542T:p.H8848Y,TTN:NM_001256850:exon105:c.C29323T:p.H9775Y,TTN:NM_001267550:exon107:c.C30274T:p.H10092Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650011;CLNALLELEID=55997;CLNDN=Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.077;SIFT_converted_rankscore=0.341;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=D;VEST3_score=0.396;VEST3_rankscore=0.736;MetaSVM_score=-0.826;MetaSVM_rankscore=0.536;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_rankscore=0.558;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.416;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.770;CADD_raw_rankscore=0.394;CADD_phred=21.2;DANN_score=0.937;DANN_rankscore=0.230;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.113;Eigen-PC-raw=0.324;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=5.746;phyloP100way_vertebrate_rankscore=0.681;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.307;SiPhy_29way_logOdds_rankscore=0.658;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0028;AF=0.0058;AF_popmax=0.0104;AF_male=0.0050;AF_female=0.0068;AF_raw=0.0058;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0196;Kaviar_AF=0.0039391;Kaviar_AC=609;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.130176;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179567431 rs368136221 A C 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=19318;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0235;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368136221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0119;ExAC_nontcga_SAS=0.0269;AF=0.0011;AF_popmax=0.0016;AF_male=0.0015;AF_female=0.0007;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0046312;Kaviar_AC=716;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569147 rs72650008 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=23726;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650008;CLNALLELEID=55993;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0032;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0017;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001824;Kaviar_AC=282;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569387 rs72650006 T A 100 PASS AC=10;AF=0.0105831;AN=214;NS=2504;DP=19706;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0;EUR_AF=0.0288;SAS_AF=0.0112;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.A26080T:p.T8694S,TTN:NM_001256850:exon103:c.A28861T:p.T9621S,TTN:NM_001267550:exon105:c.A29812T:p.T9938S;1000g2015aug_all=0.0105831;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650006;CLNALLELEID=55991;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.495;SIFT_converted_rankscore=0.079;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_rankscore=0.262;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.119;Polyphen2_HVAR_rankscore=0.306;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.706;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.08;FATHMM_converted_rankscore=0.394;FATHMM_pred=T;PROVEAN_score=-2.53;PROVEAN_converted_rankscore=0.548;PROVEAN_pred=D;VEST3_score=0.123;VEST3_rankscore=0.138;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.427;CADD_raw_rankscore=0.353;CADD_phred=19.00;DANN_score=0.905;DANN_rankscore=0.191;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.882;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.186;Eigen-PC-raw=0.346;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=6.242;phyloP100way_vertebrate_rankscore=0.721;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.181;SiPhy_29way_logOdds_rankscore=0.816;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0266;ExAC_nontcga_ALL=0.0191;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0140;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0283;ExAC_nontcga_NFE=0.0252;ExAC_nontcga_OTH=0.0234;ExAC_nontcga_SAS=0.0152;AF=0.0196;AF_popmax=0.0301;AF_male=0.0178;AF_female=0.0220;AF_raw=0.0196;AF_afr=0.0045;AF_sas=.;AF_amr=0.0083;AF_eas=0.0006;AF_nfe=0.0301;AF_fin=0.0242;AF_asj=0.0069;AF_oth=0.0184;non_topmed_AF_popmax=0.0307;non_neuro_AF_popmax=0.0305;non_cancer_AF_popmax=.;controls_AF_popmax=0.0353;Kaviar_AF=0.0191459;Kaviar_AC=2960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.881356;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569400 rs2742344 C T 100 PASS AC=5;AF=0.0842652;AN=214;NS=2504;DP=19794;EAS_AF=0.1954;AMR_AF=0.0375;AFR_AF=0.0991;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.G26067A:p.S8689S,TTN:NM_001256850:exon103:c.G28848A:p.S9616S,TTN:NM_001267550:exon105:c.G29799A:p.S9933S;1000g2015aug_all=0.0842652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742344;CLNALLELEID=55990;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0243;ExAC_nontcga_ALL=0.0539;ExAC_nontcga_AFR=0.0921;ExAC_nontcga_AMR=0.0507;ExAC_nontcga_EAS=0.2222;ExAC_nontcga_FIN=0.0564;ExAC_nontcga_NFE=0.0303;ExAC_nontcga_OTH=0.0295;ExAC_nontcga_SAS=0.0334;AF=0.0548;AF_popmax=0.1900;AF_male=0.0574;AF_female=0.0514;AF_raw=0.0549;AF_afr=0.0846;AF_sas=.;AF_amr=0.0401;AF_eas=0.1900;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0414;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1900;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0474444;Kaviar_AC=7335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.068363;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569436 rs2742343 A G 100 PASS AC=5;AF=0.096845;AN=214;NS=2504;DP=20190;EAS_AF=0.1954;AMR_AF=0.0418;AFR_AF=0.1445;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.T26031C:p.I8677I,TTN:NM_001256850:exon103:c.T28812C:p.I9604I,TTN:NM_001267550:exon105:c.T29763C:p.I9921I;1000g2015aug_all=0.096845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742343;CLNALLELEID=55988;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0248;ExAC_nontcga_ALL=0.0592;ExAC_nontcga_AFR=0.1415;ExAC_nontcga_AMR=0.0531;ExAC_nontcga_EAS=0.2262;ExAC_nontcga_FIN=0.0565;ExAC_nontcga_NFE=0.0313;ExAC_nontcga_OTH=0.0383;ExAC_nontcga_SAS=0.0333;AF=0.0698;AF_popmax=0.1896;AF_male=0.0741;AF_female=0.0645;AF_raw=0.0699;AF_afr=0.1378;AF_sas=.;AF_amr=0.0425;AF_eas=0.1896;AF_nfe=0.0263;AF_fin=0.0550;AF_asj=0.0483;AF_oth=0.0451;non_topmed_AF_popmax=0.1917;non_neuro_AF_popmax=0.1896;non_cancer_AF_popmax=.;controls_AF_popmax=0.1947;Kaviar_AF=0.0518622;Kaviar_AC=8018;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.745865;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569583 rs187393718 T A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19542;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187393718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0236;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179569705 rs143352892 A G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19085;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143352892;CLNALLELEID=55987;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0233;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036675;Kaviar_AC=567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179570114 rs2742342 A T 100 PASS AC=5;AF=0.0866613;AN=214;NS=2504;DP=16118;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.1074;EUR_AF=0.0318;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0866613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742342;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0227;ExAC_nontcga_ALL=0.0714;ExAC_nontcga_AFR=0.1161;ExAC_nontcga_AMR=0.0747;ExAC_nontcga_EAS=0.2667;ExAC_nontcga_FIN=0.0794;ExAC_nontcga_NFE=0.0379;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0496;AF=0.0587;AF_popmax=0.1833;AF_male=0.0620;AF_female=0.0546;AF_raw=0.0590;AF_afr=0.0999;AF_sas=.;AF_amr=0.0401;AF_eas=0.1833;AF_nfe=0.0261;AF_fin=0.0554;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1853;non_neuro_AF_popmax=0.1833;non_cancer_AF_popmax=.;controls_AF_popmax=0.1905;Kaviar_AF=0.0297732;Kaviar_AC=4603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179570122 rs2742341 C A 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=16271;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0418;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0552;ExAC_nontcga_EAS=0.2630;ExAC_nontcga_FIN=0.0803;ExAC_nontcga_NFE=0.0289;ExAC_nontcga_OTH=0.0714;ExAC_nontcga_SAS=0.0149;AF=0.0307;AF_popmax=0.1848;AF_male=0.0317;AF_female=0.0295;AF_raw=0.0309;AF_afr=0.0052;AF_sas=.;AF_amr=0.0307;AF_eas=0.1848;AF_nfe=0.0239;AF_fin=0.0551;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1868;non_neuro_AF_popmax=0.1848;non_cancer_AF_popmax=.;controls_AF_popmax=0.1905;Kaviar_AF=0.0215521;Kaviar_AC=3332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179571448 rs4893852 A G 100 PASS AC=5;AF=0.127396;AN=214;NS=2504;DP=19539;EAS_AF=0.0258;AMR_AF=0.1556;AFR_AF=0.2231;EUR_AF=0.0358;SAS_AF=0.1769;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.T25421C:p.I8474T,TTN:NM_001256850:exon100:c.T28202C:p.I9401T,TTN:NM_001267550:exon102:c.T29153C:p.I9718T;1000g2015aug_all=0.127396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4893852;CLNALLELEID=55983;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.757;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.4;Polyphen2_HDIV_rankscore=0.330;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.191;Polyphen2_HVAR_rankscore=0.347;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.137;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST3_score=0.241;VEST3_rankscore=0.374;MetaSVM_score=-1.018;MetaSVM_rankscore=0.244;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.216;REVEL_rankscore=0.514;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.835;CADD_raw_rankscore=0.402;CADD_phred=21.5;DANN_score=0.909;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.872;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.015;Eigen-PC-raw=0.266;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.415;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=6.371;phyloP100way_vertebrate_rankscore=0.729;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=16.806;SiPhy_29way_logOdds_rankscore=0.855;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0261;ExAC_nontcga_ALL=0.0841;ExAC_nontcga_AFR=0.2076;ExAC_nontcga_AMR=0.1955;ExAC_nontcga_EAS=0.0263;ExAC_nontcga_FIN=0.0582;ExAC_nontcga_NFE=0.0284;ExAC_nontcga_OTH=0.0928;ExAC_nontcga_SAS=0.1668;AF=0.0835;AF_popmax=0.2042;AF_male=0.0842;AF_female=0.0826;AF_raw=0.0837;AF_afr=0.2042;AF_sas=.;AF_amr=0.1706;AF_eas=0.0340;AF_nfe=0.0255;AF_fin=0.0526;AF_asj=0.0379;AF_oth=0.0542;non_topmed_AF_popmax=0.2045;non_neuro_AF_popmax=0.2105;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0753807;Kaviar_AC=11654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.246323;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179571697 rs10203085 C T 100 PASS AC=5;AF=0.0942492;AN=214;NS=2504;DP=18635;EAS_AF=0.0258;AMR_AF=0.147;AFR_AF=0.1021;EUR_AF=0.0358;SAS_AF=0.1769;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0942492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10203085;CLNALLELEID=141477;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0239;ExAC_nontcga_ALL=0.1033;ExAC_nontcga_AFR=0.1278;ExAC_nontcga_AMR=0.2649;ExAC_nontcga_EAS=0.0378;ExAC_nontcga_FIN=0.0748;ExAC_nontcga_NFE=0.0393;ExAC_nontcga_OTH=0.0995;ExAC_nontcga_SAS=0.1962;AF=0.0518;AF_popmax=0.1675;AF_male=0.0510;AF_female=0.0527;AF_raw=0.0518;AF_afr=0.0929;AF_sas=.;AF_amr=0.1675;AF_eas=0.0341;AF_nfe=0.0248;AF_fin=0.0527;AF_asj=0.0241;AF_oth=0.0443;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1715;non_cancer_AF_popmax=.;controls_AF_popmax=0.1748;Kaviar_AF=0.0609436;Kaviar_AC=9422;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179572222 rs565152396 G T 100 PASS AC=2;AF=0.00898562;AN=214;NS=2504;DP=19829;EAS_AF=0.0159;AMR_AF=0.0144;AFR_AF=0.0061;EUR_AF=0.0099;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565152396;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.305e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.179e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=9.466e-05;AF=3.184e-05;AF_popmax=0.0006;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179572445 rs144025230 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19291;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon97:c.G25117A:p.E8373K,TTN:NM_001256850:exon98:c.G27898A:p.E9300K,TTN:NM_001267550:exon100:c.G28849A:p.E9617K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144025230;CLNALLELEID=228800;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.202;SIFT_converted_rankscore=0.202;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_rankscore=0.343;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_rankscore=0.348;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-2.49;PROVEAN_converted_rankscore=0.542;PROVEAN_pred=N;VEST3_score=0.37;VEST3_rankscore=0.503;MetaSVM_score=-0.765;MetaSVM_rankscore=0.572;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.482;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.381;M-CAP_pred=T;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.339;CADD_raw_rankscore=0.460;CADD_phred=22.9;DANN_score=0.951;DANN_rankscore=0.256;fathmm-MKL_coding_score=0.618;fathmm-MKL_coding_rankscore=0.313;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.072;Eigen-PC-raw=0.077;GenoCanyon_score=0.122;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.4;GERP++_RS_rankscore=0.779;phyloP100way_vertebrate=1.126;phyloP100way_vertebrate_rankscore=0.307;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.614;phastCons100way_vertebrate_rankscore=0.276;phastCons20way_mammalian=0.909;phastCons20way_mammalian_rankscore=0.387;SiPhy_29way_logOdds=15.752;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.741e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.21e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.437924;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179574384 rs2742332 C T 100 PASS AC=5;AF=0.0752796;AN=214;NS=2504;DP=18869;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0643;EUR_AF=0.0318;SAS_AF=0.0368;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon96:c.G24930A:p.R8310R,TTN:NM_001256850:exon97:c.G27711A:p.R9237R,TTN:NM_001267550:exon99:c.G28662A:p.R9554R;1000g2015aug_all=0.0752796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742332;CLNALLELEID=55977;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0504;ExAC_nontcga_AFR=0.0634;ExAC_nontcga_AMR=0.0475;ExAC_nontcga_EAS=0.2201;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0297;ExAC_nontcga_OTH=0.0333;ExAC_nontcga_SAS=0.0323;AF=0.0486;AF_popmax=0.1889;AF_male=0.0503;AF_female=0.0464;AF_raw=0.0487;AF_afr=0.0635;AF_sas=.;AF_amr=0.0355;AF_eas=0.1889;AF_nfe=0.0257;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0404;non_topmed_AF_popmax=0.1910;non_neuro_AF_popmax=0.1889;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0460861;Kaviar_AC=7125;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.128889;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179575295 rs539641938 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21369;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539641938;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0005;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179575511 rs72648998 C T 100 PASS AC=11;AF=0.0273562;AN=214;NS=2504;DP=17461;EAS_AF=0;AMR_AF=0.0807;AFR_AF=0;EUR_AF=0.0547;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon95:c.G24581A:p.R8194Q,TTN:NM_001256850:exon96:c.G27362A:p.R9121Q,TTN:NM_001267550:exon98:c.G28313A:p.R9438Q;1000g2015aug_all=0.0273562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648998;CLNALLELEID=55973;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.317;SIFT_converted_rankscore=0.137;SIFT_pred=T;Polyphen2_HDIV_score=0.175;Polyphen2_HDIV_rankscore=0.272;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_rankscore=0.210;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.219;VEST3_rankscore=0.298;MetaSVM_score=-0.757;MetaSVM_rankscore=0.576;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.154;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.915;CADD_raw_rankscore=0.527;CADD_phred=23.5;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.530;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.044;Eigen-PC-raw=0.194;GenoCanyon_score=0.905;GenoCanyon_score_rankscore=0.262;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=2.815;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=9.955;SiPhy_29way_logOdds_rankscore=0.406;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000180228.8|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0570;ExAC_nontcga_ALL=0.0445;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.0998;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0204;ExAC_nontcga_NFE=0.0508;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0349;AF=0.0367;AF_popmax=0.0884;AF_male=0.0365;AF_female=0.0370;AF_raw=0.0367;AF_afr=0.0119;AF_sas=.;AF_amr=0.0884;AF_eas=0;AF_nfe=0.0549;AF_fin=0.0207;AF_asj=0.0448;AF_oth=0.0386;non_topmed_AF_popmax=0.0901;non_neuro_AF_popmax=0.0740;non_cancer_AF_popmax=.;controls_AF_popmax=0.0691;Kaviar_AF=0.0463448;Kaviar_AC=7165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.412747;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179575949 rs200655768 G T 100 PASS AC=28;AF=0.0740815;AN=214;NS=2504;DP=16211;EAS_AF=0.0704;AMR_AF=0.1455;AFR_AF=0.0522;EUR_AF=0.1223;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon94:c.C24282A:p.G8094G,TTN:NM_001256850:exon95:c.C27063A:p.G9021G,TTN:NM_001267550:exon97:c.C28014A:p.G9338G;1000g2015aug_all=0.0740815;GWAS=rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678;ORegAnno_REGULATORY_P=rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678;avsnp150=rs200655768;CLNALLELEID=258139;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=7.38e-05;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0024062;Kaviar_AC=372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.821472;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179576855 rs143368674 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19809;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon93:c.T23970C:p.I7990I,TTN:NM_001256850:exon94:c.T26751C:p.I8917I,TTN:NM_001267550:exon96:c.T27702C:p.I9234I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143368674;CLNALLELEID=102169;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0024;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006404;Kaviar_AC=99;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.004203;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179577736 rs150438031 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=25100;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150438031;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036287;Kaviar_AC=561;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179577998 rs72648994 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=20039;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon90:c.A23131G:p.I7711V,TTN:NM_001256850:exon91:c.A25912G:p.I8638V,TTN:NM_001267550:exon93:c.A26863G:p.I8955V;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648994;CLNALLELEID=136110;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.368;SIFT_converted_rankscore=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.677;Polyphen2_HDIV_rankscore=0.394;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_rankscore=0.400;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.665;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_converted_rankscore=0.170;PROVEAN_pred=N;VEST3_score=0.185;VEST3_rankscore=0.374;MetaSVM_score=-0.677;MetaSVM_rankscore=0.615;MetaSVM_pred=T;MetaLR_score=0.189;MetaLR_rankscore=0.541;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.094;REVEL_rankscore=0.276;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.184;CADD_raw_rankscore=0.208;CADD_phred=11.66;DANN_score=0.951;DANN_rankscore=0.257;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.554;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.171;Eigen-PC-raw=0.315;GenoCanyon_score=0.910;GenoCanyon_score_rankscore=0.263;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.96;GERP++_RS_rankscore=0.967;phyloP100way_vertebrate=2.053;phyloP100way_vertebrate_rankscore=0.407;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.982;phastCons100way_vertebrate_rankscore=0.353;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.448;SiPhy_29way_logOdds_rankscore=0.837;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0309;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0214;ExAC_nontcga_SAS=0.0087;AF=0.0039;AF_popmax=0.0020;AF_male=0.0031;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0027813;Kaviar_AC=430;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.404834;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578108 rs71393436 T TACAAA,TACAAAACAAA 100 PASS AC=46,1;AF=0.355431,0.0211661;AN=214;NS=2504;DP=34461;EAS_AF=0.5089,0.0308;AMR_AF=0.3501,0.0058;AFR_AF=0.289,0.0484;EUR_AF=0.1918,0.006;SAS_AF=0.4591,0.001;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374810711;CLNALLELEID=55954;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.1251;ExAC_nontcga_AFR=0.1943;ExAC_nontcga_AMR=0.2929;ExAC_nontcga_EAS=0.392;ExAC_nontcga_FIN=0.1292;ExAC_nontcga_NFE=0.0840;ExAC_nontcga_OTH=0.12;ExAC_nontcga_SAS=0.0979;AF=0.2066;AF_popmax=0.4532;AF_male=0.2115;AF_female=0.2003;AF_raw=0.2093;AF_afr=0.2465;AF_sas=.;AF_amr=0.3405;AF_eas=0.4532;AF_nfe=0.1709;AF_fin=0.1369;AF_asj=0.1354;AF_oth=0.1911;non_topmed_AF_popmax=0.4492;non_neuro_AF_popmax=0.4532;non_cancer_AF_popmax=.;controls_AF_popmax=0.4771;Kaviar_AF=0.0035769;Kaviar_AC=553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0211661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71393436;CLNALLELEID=178128;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0499;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0376;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0143;AF_popmax=0.0452;AF_male=0.0137;AF_female=0.0150;AF_raw=0.0144;AF_afr=0.0452;AF_sas=.;AF_amr=0.0060;AF_eas=0.0033;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0449;non_neuro_AF_popmax=0.0435;non_cancer_AF_popmax=.;controls_AF_popmax=0.0415;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|2 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179578159 rs72648992 A G 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=22128;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0031;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0095;AF_popmax=0.0153;AF_male=0.0099;AF_female=0.0090;AF_raw=0.0094;AF_afr=0.0032;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0153;AF_fin=0.0026;AF_asj=0.0175;AF_oth=0.0074;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0155;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0114876;Kaviar_AC=299;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578703 rs142812510 C T 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=20116;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0204;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.G22950A:p.P7650P,TTN:NM_001256850:exon90:c.G25731A:p.P8577P,TTN:NM_001267550:exon92:c.G26682A:p.P8894P;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142812510;CLNALLELEID=55952;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0049;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0187;AF=0.0032;AF_popmax=0.0045;AF_male=0.0028;AF_female=0.0036;AF_raw=0.0032;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0040;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0045;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0045795;Kaviar_AC=708;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.749361;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578704 rs13398235 G A 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=20072;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22949T:p.P7650L,TTN:NM_001256850:exon90:c.C25730T:p.P8577L,TTN:NM_001267550:exon92:c.C26681T:p.P8894L;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13398235;CLNALLELEID=55951;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.755;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.221;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.548;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-4.69;PROVEAN_converted_rankscore=0.797;PROVEAN_pred=D;VEST3_score=0.263;VEST3_rankscore=0.320;MetaSVM_score=-1.124;MetaSVM_rankscore=0.021;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.156;REVEL_rankscore=0.412;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.101;CADD_raw_rankscore=0.313;CADD_phred=16.86;DANN_score=0.810;DANN_rankscore=0.130;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.286;Eigen-PC-raw=-0.092;GenoCanyon_score=0.452;GenoCanyon_score_rankscore=0.205;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=3.701;phyloP100way_vertebrate_rankscore=0.543;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.015;phastCons20way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0256;ExAC_nontcga_ALL=0.0793;ExAC_nontcga_AFR=0.1529;ExAC_nontcga_AMR=0.1941;ExAC_nontcga_EAS=0.0265;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0281;ExAC_nontcga_OTH=0.0933;ExAC_nontcga_SAS=0.1661;AF=0.0691;AF_popmax=0.1663;AF_male=0.0685;AF_female=0.0698;AF_raw=0.0692;AF_afr=0.1534;AF_sas=.;AF_amr=0.1663;AF_eas=0.0342;AF_nfe=0.0251;AF_fin=0.0535;AF_asj=0.0379;AF_oth=0.0515;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0705812;Kaviar_AC=10912;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.749361;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179578730 rs2562839 G A 100 PASS AC=50;AF=0.444688;AN=214;NS=2504;DP=20000;EAS_AF=0.6567;AMR_AF=0.379;AFR_AF=0.4644;EUR_AF=0.2237;SAS_AF=0.4734;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22923T:p.S7641S,TTN:NM_001256850:exon90:c.C25704T:p.S8568S,TTN:NM_001267550:exon92:c.C26655T:p.S8885S;1000g2015aug_all=0.444688;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562839;CLNALLELEID=55949;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2012;ExAC_nontcga_ALL=0.3142;ExAC_nontcga_AFR=0.4235;ExAC_nontcga_AMR=0.4170;ExAC_nontcga_EAS=0.6681;ExAC_nontcga_FIN=0.2082;ExAC_nontcga_NFE=0.2029;ExAC_nontcga_OTH=0.2718;ExAC_nontcga_SAS=0.4326;AF=0.2904;AF_popmax=0.6516;AF_male=0.2974;AF_female=0.2817;AF_raw=0.2904;AF_afr=0.4231;AF_sas=.;AF_amr=0.3924;AF_eas=0.6516;AF_nfe=0.2013;AF_fin=0.1948;AF_asj=0.1897;AF_oth=0.2399;non_topmed_AF_popmax=0.6493;non_neuro_AF_popmax=0.6516;non_cancer_AF_popmax=.;controls_AF_popmax=0.6779;Kaviar_AF=0.296794;Kaviar_AC=45885;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.007646;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179578937 rs2742330 A G 100 PASS AC=5;AF=0.0804712;AN=214;NS=2504;DP=20358;EAS_AF=0.1964;AMR_AF=0.0389;AFR_AF=0.0832;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0804712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0238;ExAC_nontcga_ALL=0.0525;ExAC_nontcga_AFR=0.0800;ExAC_nontcga_AMR=0.0484;ExAC_nontcga_EAS=0.2211;ExAC_nontcga_FIN=0.0550;ExAC_nontcga_NFE=0.0300;ExAC_nontcga_OTH=0.0381;ExAC_nontcga_SAS=0.0331;AF=0.0539;AF_popmax=0.1876;AF_male=0.0562;AF_female=0.0511;AF_raw=0.0541;AF_afr=0.0822;AF_sas=.;AF_amr=0.0377;AF_eas=0.1876;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1897;non_neuro_AF_popmax=0.1876;non_cancer_AF_popmax=.;controls_AF_popmax=0.1927;Kaviar_AF=0.0473215;Kaviar_AC=7316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579093 rs12693164 T C 100 PASS AC=40;AF=0.247005;AN=214;NS=2504;DP=21117;EAS_AF=0.4365;AMR_AF=0.1859;AFR_AF=0.1936;EUR_AF=0.1561;SAS_AF=0.2607;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22676G:p.N7559S,TTN:NM_001256850:exon89:c.A25457G:p.N8486S,TTN:NM_001267550:exon91:c.A26408G:p.N8803S;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12693164;CLNALLELEID=55942;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.057;SIFT_converted_rankscore=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.016;MetaSVM_score=-0.992;MetaSVM_rankscore=0.320;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.186;REVEL_rankscore=0.466;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.712;CADD_raw_rankscore=0.044;CADD_phred=0.068;DANN_score=0.409;DANN_rankscore=0.029;fathmm-MKL_coding_score=0.848;fathmm-MKL_coding_rankscore=0.436;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.945;Eigen-PC-raw=-0.804;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.110;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=2.25;GERP++_RS_rankscore=0.272;phyloP100way_vertebrate=0.816;phyloP100way_vertebrate_rankscore=0.267;phyloP20way_mammalian=-0.211;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.986;phastCons20way_mammalian_rankscore=0.517;SiPhy_29way_logOdds=12.175;SiPhy_29way_logOdds_rankscore=0.533;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1506;ExAC_nontcga_ALL=0.1814;ExAC_nontcga_AFR=0.1651;ExAC_nontcga_AMR=0.1763;ExAC_nontcga_EAS=0.4254;ExAC_nontcga_FIN=0.0940;ExAC_nontcga_NFE=0.1451;ExAC_nontcga_OTH=0.1449;ExAC_nontcga_SAS=0.2340;AF=0.1599;AF_popmax=0.4266;AF_male=0.1640;AF_female=0.1548;AF_raw=0.1600;AF_afr=0.1615;AF_sas=.;AF_amr=0.1868;AF_eas=0.4266;AF_nfe=0.1494;AF_fin=0.0858;AF_asj=0.1034;AF_oth=0.1455;non_topmed_AF_popmax=0.4228;non_neuro_AF_popmax=0.4266;non_cancer_AF_popmax=.;controls_AF_popmax=0.4473;Kaviar_AF=0.175845;Kaviar_AC=27186;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.090561;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579212 rs2562838 T C 100 PASS AC=50;AF=0.483427;AN=214;NS=2504;DP=19704;EAS_AF=0.6587;AMR_AF=0.3934;AFR_AF=0.6021;EUR_AF=0.2237;SAS_AF=0.4734;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22557G:p.E7519E,TTN:NM_001256850:exon89:c.A25338G:p.E8446E,TTN:NM_001267550:exon91:c.A26289G:p.E8763E;1000g2015aug_all=0.483427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562838;CLNALLELEID=55941;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2019;ExAC_nontcga_ALL=0.3276;ExAC_nontcga_AFR=0.5526;ExAC_nontcga_AMR=0.4279;ExAC_nontcga_EAS=0.6732;ExAC_nontcga_FIN=0.2077;ExAC_nontcga_NFE=0.2045;ExAC_nontcga_OTH=0.2815;ExAC_nontcga_SAS=0.4343;AF=0.3234;AF_popmax=0.6509;AF_male=0.3311;AF_female=0.3139;AF_raw=0.3234;AF_afr=0.5403;AF_sas=.;AF_amr=0.4033;AF_eas=0.6509;AF_nfe=0.2009;AF_fin=0.1953;AF_asj=0.1910;AF_oth=0.2459;non_topmed_AF_popmax=0.6485;non_neuro_AF_popmax=0.6509;non_cancer_AF_popmax=.;controls_AF_popmax=0.6799;Kaviar_AF=0.307622;Kaviar_AC=47559;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.23384::0.172854;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.792847;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579366 rs2627044 G A 100 PASS AC=5;AF=0.0800719;AN=214;NS=2504;DP=20550;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0825;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0800719;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0540;AF_popmax=0.1907;AF_male=0.0566;AF_female=0.0507;AF_raw=0.0540;AF_afr=0.0821;AF_sas=.;AF_amr=0.0366;AF_eas=0.1907;AF_nfe=0.0260;AF_fin=0.0555;AF_asj=0.0483;AF_oth=0.0423;non_topmed_AF_popmax=0.1929;non_neuro_AF_popmax=0.1907;non_cancer_AF_popmax=.;controls_AF_popmax=0.1945;Kaviar_AF=0.0079106;Kaviar_AC=1223;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579694 rs2562837 T A 100 PASS AC=5;AF=0.0754792;AN=214;NS=2504;DP=20268;EAS_AF=0.1964;AMR_AF=0.0375;AFR_AF=0.0651;EUR_AF=0.0318;SAS_AF=0.0368;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562837;CLNALLELEID=141550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0237;ExAC_nontcga_ALL=0.0528;ExAC_nontcga_AFR=0.0639;ExAC_nontcga_AMR=0.0477;ExAC_nontcga_EAS=0.2213;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0302;ExAC_nontcga_OTH=0.0321;ExAC_nontcga_SAS=0.0360;AF=0.0489;AF_popmax=0.1900;AF_male=0.0506;AF_female=0.0467;AF_raw=0.0488;AF_afr=0.0637;AF_sas=.;AF_amr=0.0366;AF_eas=0.1900;AF_nfe=0.0260;AF_fin=0.0556;AF_asj=0.0483;AF_oth=0.0404;non_topmed_AF_popmax=0.1921;non_neuro_AF_popmax=0.1900;non_cancer_AF_popmax=.;controls_AF_popmax=0.1937;Kaviar_AF=0.0453293;Kaviar_AC=7008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179579822 rs2562836 T A 100 PASS AC=50;AF=0.444489;AN=214;NS=2504;DP=20441;EAS_AF=0.6577;AMR_AF=0.379;AFR_AF=0.4644;EUR_AF=0.2237;SAS_AF=0.4714;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.A22359T:p.L7453L,TTN:NM_001256850:exon88:c.A25140T:p.L8380L,TTN:NM_001267550:exon90:c.A26091T:p.L8697L;1000g2015aug_all=0.444489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562836;CLNALLELEID=55938;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2005;ExAC_nontcga_ALL=0.3143;ExAC_nontcga_AFR=0.4256;ExAC_nontcga_AMR=0.4176;ExAC_nontcga_EAS=0.6710;ExAC_nontcga_FIN=0.2073;ExAC_nontcga_NFE=0.2026;ExAC_nontcga_OTH=0.2754;ExAC_nontcga_SAS=0.4307;AF=0.2915;AF_popmax=0.6520;AF_male=0.2979;AF_female=0.2834;AF_raw=0.2916;AF_afr=0.4269;AF_sas=.;AF_amr=0.3910;AF_eas=0.6520;AF_nfe=0.2008;AF_fin=0.1952;AF_asj=0.1897;AF_oth=0.2408;non_topmed_AF_popmax=0.6505;non_neuro_AF_popmax=0.6520;non_cancer_AF_popmax=.;controls_AF_popmax=0.6781;Kaviar_AF=0.290714;Kaviar_AC=44945;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.178495;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.537750;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179579977 rs72648987 G A 100 PASS AC=8;AF=0.00938498;AN=214;NS=2504;DP=21036;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0258;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.C22204T:p.R7402C,TTN:NM_001256850:exon88:c.C24985T:p.R8329C,TTN:NM_001267550:exon90:c.C25936T:p.R8646C;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648987;CLNALLELEID=55935;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.175;SIFT_converted_rankscore=0.224;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_converted_rankscore=0.629;PROVEAN_pred=D;VEST3_score=0.255;VEST3_rankscore=0.340;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.131;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.084;REVEL_rankscore=0.250;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.568;CADD_raw_rankscore=0.486;CADD_phred=23.1;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.597;fathmm-MKL_coding_rankscore=0.307;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.327;Eigen-PC-raw=-0.208;GenoCanyon_score=0.011;GenoCanyon_score_rankscore=0.122;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.64;GERP++_RS_rankscore=0.407;phyloP100way_vertebrate=0.976;phyloP100way_vertebrate_rankscore=0.289;phyloP20way_mammalian=0.064;phyloP20way_mammalian_rankscore=0.169;phastCons100way_vertebrate=0.851;phastCons100way_vertebrate_rankscore=0.302;phastCons20way_mammalian=0.527;phastCons20way_mammalian_rankscore=0.275;SiPhy_29way_logOdds=8.459;SiPhy_29way_logOdds_rankscore=0.319;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0223;ExAC_nontcga_ALL=0.0161;ExAC_nontcga_AFR=0.0039;ExAC_nontcga_AMR=0.0133;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0241;ExAC_nontcga_NFE=0.0199;ExAC_nontcga_OTH=0.0193;ExAC_nontcga_SAS=0.0158;AF=0.0170;AF_popmax=0.0259;AF_male=0.0157;AF_female=0.0186;AF_raw=0.0169;AF_afr=0.0041;AF_sas=.;AF_amr=0.0071;AF_eas=0.0006;AF_nfe=0.0259;AF_fin=0.0202;AF_asj=0.0069;AF_oth=0.0166;non_topmed_AF_popmax=0.0268;non_neuro_AF_popmax=0.0262;non_cancer_AF_popmax=.;controls_AF_popmax=0.0313;Kaviar_AF=0.0163905;Kaviar_AC=2534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.742853;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580171 rs545310957 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20113;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545310957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.016e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.904e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580210 rs10183237 G A 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=18546;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10183237;CLNALLELEID=55934;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0251;ExAC_nontcga_ALL=0.0806;ExAC_nontcga_AFR=0.1510;ExAC_nontcga_AMR=0.1930;ExAC_nontcga_EAS=0.0263;ExAC_nontcga_FIN=0.0585;ExAC_nontcga_NFE=0.0282;ExAC_nontcga_OTH=0.0985;ExAC_nontcga_SAS=0.1888;AF=0.0687;AF_popmax=0.1663;AF_male=0.0681;AF_female=0.0694;AF_raw=0.0687;AF_afr=0.1520;AF_sas=.;AF_amr=0.1663;AF_eas=0.0336;AF_nfe=0.0250;AF_fin=0.0535;AF_asj=0.0379;AF_oth=0.0515;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0703484;Kaviar_AC=10876;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580434 rs2742329 A G 100 PASS AC=3;AF=0.0507188;AN=214;NS=2504;DP=19787;EAS_AF=0.1944;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon86:c.T21975C:p.Y7325Y,TTN:NM_001256850:exon87:c.T24756C:p.Y8252Y,TTN:NM_001267550:exon89:c.T25707C:p.Y8569Y;1000g2015aug_all=0.0507188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742329;CLNALLELEID=55931;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0726;ExAC_nontcga_EAS=0.2790;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0388;ExAC_nontcga_SAS=0.0113;AF=0.0310;AF_popmax=0.1889;AF_male=0.0319;AF_female=0.0298;AF_raw=0.0310;AF_afr=0.0052;AF_sas=.;AF_amr=0.0318;AF_eas=0.1889;AF_nfe=0.0239;AF_fin=0.0555;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1910;non_neuro_AF_popmax=0.1889;non_cancer_AF_popmax=.;controls_AF_popmax=0.1943;Kaviar_AF=0.0359374;Kaviar_AC=5556;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.497784;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179580525 rs10183361 C T 100 PASS AC=5;AF=0.111422;AN=214;NS=2504;DP=19028;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.1649;EUR_AF=0.0358;SAS_AF=0.1759;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.111422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10183361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0246;ExAC_nontcga_ALL=0.1142;ExAC_nontcga_AFR=0.1757;ExAC_nontcga_AMR=0.2461;ExAC_nontcga_EAS=0.0397;ExAC_nontcga_FIN=0.0763;ExAC_nontcga_NFE=0.0394;ExAC_nontcga_OTH=0.12;ExAC_nontcga_SAS=0.1966;AF=0.0687;AF_popmax=0.1663;AF_male=0.0683;AF_female=0.0691;AF_raw=0.0686;AF_afr=0.1520;AF_sas=.;AF_amr=0.1663;AF_eas=0.0342;AF_nfe=0.0251;AF_fin=0.0526;AF_asj=0.0379;AF_oth=0.0516;non_topmed_AF_popmax=0.1728;non_neuro_AF_popmax=0.1661;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.053738;Kaviar_AC=8308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581835 rs2562832 C A 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=18292;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21894T:p.Q7298H,TTN:NM_001256850:exon86:c.G24675T:p.Q8225H,TTN:NM_001267550:exon88:c.G25626T:p.Q8542H;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562832;CLNALLELEID=55928;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.593;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.415;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.13;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.253;MetaSVM_score=-1.000;MetaSVM_rankscore=0.299;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.149;REVEL_rankscore=0.399;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.191;CADD_raw_rankscore=0.112;CADD_phred=4.588;DANN_score=0.732;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.060;fathmm-MKL_coding_rankscore=0.118;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.673;Eigen-PC-raw=-0.790;GenoCanyon_score=0.976;GenoCanyon_score_rankscore=0.297;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-7.84;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=-1.347;phyloP100way_vertebrate_rankscore=0.027;phyloP20way_mammalian=-0.889;phyloP20way_mammalian_rankscore=0.027;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=1.190;SiPhy_29way_logOdds_rankscore=0.017;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2|ENSG00000223960.2;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0214;ExAC_nontcga_ALL=0.0412;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0.2203;ExAC_nontcga_FIN=0.0549;ExAC_nontcga_NFE=0.0277;ExAC_nontcga_OTH=0.0315;ExAC_nontcga_SAS=0.0099;AF=0.0310;AF_popmax=0.1893;AF_male=0.0320;AF_female=0.0298;AF_raw=0.0311;AF_afr=0.0053;AF_sas=.;AF_amr=0.0330;AF_eas=0.1893;AF_nfe=0.0239;AF_fin=0.0550;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1914;non_neuro_AF_popmax=0.1893;non_cancer_AF_popmax=.;controls_AF_popmax=0.1932;Kaviar_AF=0.0369853;Kaviar_AC=5718;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.868842;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581933 rs576038518 T G 100 PASS AC=7;AF=0.028754;AN=214;NS=2504;DP=19239;EAS_AF=0.0427;AMR_AF=0.0389;AFR_AF=0.0189;EUR_AF=0.0477;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.A21796C:p.T7266P,TTN:NM_001256850:exon86:c.A24577C:p.T8193P,TTN:NM_001267550:exon88:c.A25528C:p.T8510P;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576038518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.137;SIFT_converted_rankscore=0.259;SIFT_pred=T;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.535;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.539;Polyphen2_HVAR_rankscore=0.470;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_converted_rankscore=0.657;PROVEAN_pred=D;VEST3_score=0.43;VEST3_rankscore=0.562;MetaSVM_score=-0.404;MetaSVM_rankscore=0.719;MetaSVM_pred=T;MetaLR_score=0.299;MetaLR_rankscore=0.670;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.408;REVEL_rankscore=0.723;MutPred_score=0.687;MutPred_rankscore=0.825;CADD_raw=1.592;CADD_raw_rankscore=0.253;CADD_phred=13.81;DANN_score=0.917;DANN_rankscore=0.204;fathmm-MKL_coding_score=0.930;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.530;Eigen-PC-raw=0.555;GenoCanyon_score=0.827;GenoCanyon_score_rankscore=0.246;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=3.627;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.881;SiPhy_29way_logOdds_rankscore=0.517;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0009314;Kaviar_AC=144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.857827;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179581971 rs149855485 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19501;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149855485;CLNALLELEID=55924;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.043;SIFT_converted_rankscore=0.413;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_rankscore=0.517;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.324;VEST3_rankscore=0.441;MetaSVM_score=-0.418;MetaSVM_rankscore=0.715;MetaSVM_pred=T;MetaLR_score=0.313;MetaLR_rankscore=0.683;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.192;REVEL_rankscore=0.476;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.691;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_rankscore=0.408;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.420;Eigen-PC-raw=0.442;GenoCanyon_score=0.365;GenoCanyon_score_rankscore=0.198;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.52;GERP++_RS_rankscore=0.821;phyloP100way_vertebrate=1.594;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.790;phastCons100way_vertebrate_rankscore=0.294;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=19.812;SiPhy_29way_logOdds_rankscore=0.965;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037192;Kaviar_AC=575;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.234590;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582063 rs72648986 A T 100 PASS AC=2;AF=0.028754;AN=214;NS=2504;DP=21619;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0809;EUR_AF=0.003;SAS_AF=0.0276;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon85:c.T21666A:p.D7222E,TTN:NM_001256850:exon86:c.T24447A:p.D8149E,TTN:NM_001267550:exon88:c.T25398A:p.D8466E;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648986;CLNALLELEID=55923;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.07;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.397;PROVEAN_pred=N;VEST3_score=0.09;VEST3_rankscore=0.114;MetaSVM_score=-1.108;MetaSVM_rankscore=0.033;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.042;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.979;CADD_raw_rankscore=0.188;CADD_phred=10.54;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.705;fathmm-MKL_coding_rankscore=0.344;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.390;Eigen-PC-raw=-0.174;GenoCanyon_score=0.032;GenoCanyon_score_rankscore=0.140;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.59;GERP++_RS_rankscore=0.561;phyloP100way_vertebrate=-0.126;phyloP100way_vertebrate_rankscore=0.105;phyloP20way_mammalian=0.237;phyloP20way_mammalian_rankscore=0.263;phastCons100way_vertebrate=0.445;phastCons100way_vertebrate_rankscore=0.263;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=11.165;SiPhy_29way_logOdds_rankscore=0.476;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0027;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0749;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0234;AF=0.0229;AF_popmax=0.0765;AF_male=0.0245;AF_female=0.0209;AF_raw=0.0230;AF_afr=0.0765;AF_sas=.;AF_amr=0.0059;AF_eas=0.0006;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0.0103;AF_oth=0.0092;non_topmed_AF_popmax=0.0769;non_neuro_AF_popmax=0.0750;non_cancer_AF_popmax=.;controls_AF_popmax=0.0789;Kaviar_AF=0.0103492;Kaviar_AC=1600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.417210;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582162 rs62178977 C T 100 PASS AC=40;AF=0.24401;AN=214;NS=2504;DP=21443;EAS_AF=0.4355;AMR_AF=0.1844;AFR_AF=0.1936;EUR_AF=0.1571;SAS_AF=0.2464;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.24401;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178977;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1603;AF_popmax=0.4244;AF_male=0.1644;AF_female=0.1550;AF_raw=0.1605;AF_afr=0.1634;AF_sas=.;AF_amr=0.1875;AF_eas=0.4244;AF_nfe=0.1496;AF_fin=0.0857;AF_asj=0.1;AF_oth=0.1427;non_topmed_AF_popmax=0.4205;non_neuro_AF_popmax=0.4244;non_cancer_AF_popmax=.;controls_AF_popmax=0.4436;Kaviar_AF=0.0347538;Kaviar_AC=5373;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582166 rs143761783 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21288;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143761783;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582327 rs13390491 C T 100 PASS AC=40;AF=0.24381;AN=214;NS=2504;DP=21045;EAS_AF=0.4355;AMR_AF=0.183;AFR_AF=0.1936;EUR_AF=0.1571;SAS_AF=0.2464;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.G21542A:p.S7181N,TTN:NM_001256850:exon85:c.G24323A:p.S8108N,TTN:NM_001267550:exon87:c.G25274A:p.S8425N;1000g2015aug_all=0.24381;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13390491;CLNALLELEID=55921;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.257;SIFT_converted_rankscore=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_rankscore=0.265;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.226;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.688;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.389;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.097;MetaSVM_score=-0.994;MetaSVM_rankscore=0.316;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.700;CADD_raw_rankscore=0.265;CADD_phred=14.41;DANN_score=0.866;DANN_rankscore=0.161;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_rankscore=0.286;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.011;Eigen-PC-raw=0.098;GenoCanyon_score=0.106;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=1.670;phyloP100way_vertebrate_rankscore=0.369;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.936;phastCons100way_vertebrate_rankscore=0.322;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=10.360;SiPhy_29way_logOdds_rankscore=0.430;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1508;ExAC_nontcga_ALL=0.1805;ExAC_nontcga_AFR=0.1700;ExAC_nontcga_AMR=0.1755;ExAC_nontcga_EAS=0.4268;ExAC_nontcga_FIN=0.0929;ExAC_nontcga_NFE=0.1456;ExAC_nontcga_OTH=0.1426;ExAC_nontcga_SAS=0.2259;AF=0.1601;AF_popmax=0.4215;AF_male=0.1643;AF_female=0.1547;AF_raw=0.1604;AF_afr=0.1636;AF_sas=.;AF_amr=0.1875;AF_eas=0.4215;AF_nfe=0.1495;AF_fin=0.0858;AF_asj=0.1;AF_oth=0.1427;non_topmed_AF_popmax=0.4176;non_neuro_AF_popmax=0.4215;non_cancer_AF_popmax=.;controls_AF_popmax=0.4425;Kaviar_AF=0.17503;Kaviar_AC=27060;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.891581;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582537 rs2627043 G T 100 PASS AC=50;AF=0.444888;AN=214;NS=2504;DP=21070;EAS_AF=0.6577;AMR_AF=0.379;AFR_AF=0.4637;EUR_AF=0.2247;SAS_AF=0.4734;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.C21332A:p.A7111E,TTN:NM_001256850:exon85:c.C24113A:p.A8038E,TTN:NM_001267550:exon87:c.C25064A:p.A8355E;1000g2015aug_all=0.444888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627043;CLNALLELEID=55915;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.858;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=2.66;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.141;VEST3_rankscore=0.311;MetaSVM_score=-0.990;MetaSVM_rankscore=0.327;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.566;CADD_raw_rankscore=0.370;CADD_phred=19.89;DANN_score=0.865;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.201;Eigen-PC-raw=0.314;GenoCanyon_score=0.899;GenoCanyon_score_rankscore=0.260;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=4.073;phyloP100way_vertebrate_rankscore=0.570;phyloP20way_mammalian=0.152;phyloP20way_mammalian_rankscore=0.238;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.684;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.2018;ExAC_nontcga_ALL=0.3169;ExAC_nontcga_AFR=0.4268;ExAC_nontcga_AMR=0.4185;ExAC_nontcga_EAS=0.6690;ExAC_nontcga_FIN=0.2059;ExAC_nontcga_NFE=0.2042;ExAC_nontcga_OTH=0.2778;ExAC_nontcga_SAS=0.4476;AF=0.2909;AF_popmax=0.6466;AF_male=0.2980;AF_female=0.2821;AF_raw=0.2913;AF_afr=0.4267;AF_sas=.;AF_amr=0.3939;AF_eas=0.6466;AF_nfe=0.2006;AF_fin=0.1937;AF_asj=0.1897;AF_oth=0.2380;non_topmed_AF_popmax=0.6450;non_neuro_AF_popmax=0.6466;non_cancer_AF_popmax=.;controls_AF_popmax=0.6704;Kaviar_AF=0.294537;Kaviar_AC=45536;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.178495;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.894624;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582605 rs6750145 A G 100 PASS AC=42;AF=0.279153;AN=214;NS=2504;DP=21106;EAS_AF=0.4355;AMR_AF=0.196;AFR_AF=0.298;EUR_AF=0.16;SAS_AF=0.274;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6750145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1901;AF_popmax=0.4239;AF_male=0.1965;AF_female=0.1821;AF_raw=0.1905;AF_afr=0.2642;AF_sas=.;AF_amr=0.1931;AF_eas=0.4239;AF_nfe=0.1523;AF_fin=0.0858;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4200;non_neuro_AF_popmax=0.4239;non_cancer_AF_popmax=.;controls_AF_popmax=0.4427;Kaviar_AF=0.0369594;Kaviar_AC=5714;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.206888;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6750145;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1901;AF_popmax=0.4239;AF_male=0.1965;AF_female=0.1821;AF_raw=0.1905;AF_afr=0.2642;AF_sas=.;AF_amr=0.1931;AF_eas=0.4239;AF_nfe=0.1523;AF_fin=0.0858;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4200;non_neuro_AF_popmax=0.4239;non_cancer_AF_popmax=.;controls_AF_popmax=0.4427;Kaviar_AF=0.0369594;Kaviar_AC=5714;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.145833::0.206888;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179582760 rs72648984 T C 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=21353;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21241G:p.K7081E,TTN:NM_001256850:exon84:c.A24022G:p.K8008E,TTN:NM_001267550:exon86:c.A24973G:p.K8325E;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648984;CLNALLELEID=55910;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.677;SIFT_converted_rankscore=0.045;SIFT_pred=T;Polyphen2_HDIV_score=0.216;Polyphen2_HDIV_rankscore=0.285;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_rankscore=0.275;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.697;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.421;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.412;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.518;CADD_raw_rankscore=0.244;CADD_phred=13.41;DANN_score=0.913;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.025;Eigen-PC-raw=0.181;GenoCanyon_score=0.185;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=1.545;phyloP100way_vertebrate_rankscore=0.355;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.967;phastCons100way_vertebrate_rankscore=0.338;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.957;SiPhy_29way_logOdds_rankscore=0.348;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0076;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0150;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0;AF=0.0059;AF_popmax=0.0070;AF_male=0.0058;AF_female=0.0060;AF_raw=0.0059;AF_afr=0.0014;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0070;AF_fin=0.0152;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0065;non_neuro_AF_popmax=0.0073;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0060737;Kaviar_AC=939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.831918;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582824 rs72648983 C T 100 PASS AC=3;AF=0.0235623;AN=214;NS=2504;DP=21153;EAS_AF=0.0109;AMR_AF=0.013;AFR_AF=0.0537;EUR_AF=0.0119;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.G21177A:p.K7059K,TTN:NM_001256850:exon84:c.G23958A:p.K7986K,TTN:NM_001267550:exon86:c.G24909A:p.K8303K;1000g2015aug_all=0.0235623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648983;CLNALLELEID=55908;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0142;ExAC_nontcga_AFR=0.0399;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0059;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0114;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0177;AF=0.0170;AF_popmax=0.0376;AF_male=0.0168;AF_female=0.0173;AF_raw=0.0171;AF_afr=0.0376;AF_sas=.;AF_amr=0.0106;AF_eas=0.0071;AF_nfe=0.0077;AF_fin=0.0158;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0374;non_neuro_AF_popmax=0.0354;non_cancer_AF_popmax=.;controls_AF_popmax=0.0326;Kaviar_AF=0.0129623;Kaviar_AC=2004;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.076578;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179582853 rs72648982 T C 100 PASS AC=5;AF=0.0121805;AN=214;NS=2504;DP=21179;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0023;EUR_AF=0.0278;SAS_AF=0.0204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21148G:p.R7050G,TTN:NM_001256850:exon84:c.A23929G:p.R7977G,TTN:NM_001267550:exon86:c.A24880G:p.R8294G;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648982;CLNALLELEID=55907;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.153;Polyphen2_HDIV_rankscore=0.265;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_rankscore=0.243;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-3.53;PROVEAN_converted_rankscore=0.685;PROVEAN_pred=D;VEST3_score=0.258;VEST3_rankscore=0.421;MetaSVM_score=-0.759;MetaSVM_rankscore=0.575;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_rankscore=0.421;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.513;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.340;fathmm-MKL_coding_rankscore=0.247;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.176;Eigen-PC-raw=-0.097;GenoCanyon_score=0.107;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=1.207;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=13.612;SiPhy_29way_logOdds_rankscore=0.614;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0202;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0130;ExAC_nontcga_NFE=0.0295;ExAC_nontcga_OTH=0.0320;ExAC_nontcga_SAS=0.0171;AF=0.0184;AF_popmax=0.0256;AF_male=0.0189;AF_female=0.0177;AF_raw=0.0184;AF_afr=0.0069;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0256;AF_fin=0.0164;AF_asj=0.0690;AF_oth=0.0239;non_topmed_AF_popmax=0.0228;non_neuro_AF_popmax=0.0271;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0214616;Kaviar_AC=3318;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.939035;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583317 rs72648978 G A 100 PASS AC=23;AF=0.0734824;AN=214;NS=2504;DP=20597;EAS_AF=0.0198;AMR_AF=0.0692;AFR_AF=0.0802;EUR_AF=0.0944;SAS_AF=0.1012;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.C20784T:p.T6928T,TTN:NM_001256850:exon83:c.C23565T:p.T7855T,TTN:NM_001267550:exon85:c.C24516T:p.T8172T;1000g2015aug_all=0.0734824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648978;CLNALLELEID=55899;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1101;ExAC_nontcga_ALL=0.0886;ExAC_nontcga_AFR=0.0764;ExAC_nontcga_AMR=0.0423;ExAC_nontcga_EAS=0.0209;ExAC_nontcga_FIN=0.0924;ExAC_nontcga_NFE=0.1052;ExAC_nontcga_OTH=0.0794;ExAC_nontcga_SAS=0.1036;AF=0.0935;AF_popmax=0.1118;AF_male=0.0935;AF_female=0.0936;AF_raw=0.0936;AF_afr=0.0793;AF_sas=.;AF_amr=0.0354;AF_eas=0.0225;AF_nfe=0.1118;AF_fin=0.0957;AF_asj=0.0586;AF_oth=0.0974;non_topmed_AF_popmax=0.1139;non_neuro_AF_popmax=0.1104;non_cancer_AF_popmax=.;controls_AF_popmax=0.1148;Kaviar_AF=0.0885305;Kaviar_AC=13687;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.103769;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179583326 rs569773062 T G 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=20599;EAS_AF=0.004;AMR_AF=0.0058;AFR_AF=0.0038;EUR_AF=0.0089;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.A20775C:p.E6925D,TTN:NM_001256850:exon83:c.A23556C:p.E7852D,TTN:NM_001267550:exon85:c.A24507C:p.E8169D;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569773062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.149;SIFT_converted_rankscore=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.492;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=-1.78;PROVEAN_converted_rankscore=0.420;PROVEAN_pred=N;VEST3_score=0.14;VEST3_rankscore=0.459;MetaSVM_score=-0.801;MetaSVM_rankscore=0.551;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.484;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.541;M-CAP_pred=D;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=0.343;MutPred_rankscore=0.337;CADD_raw=1.396;CADD_raw_rankscore=0.231;CADD_phred=12.77;DANN_score=0.879;DANN_rankscore=0.170;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.409;Eigen-PC-raw=0.407;GenoCanyon_score=0.715;GenoCanyon_score_rankscore=0.228;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.01;GERP++_RS_rankscore=0.663;phyloP100way_vertebrate=1.123;phyloP100way_vertebrate_rankscore=0.307;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=8.32;SiPhy_29way_logOdds_rankscore=0.311;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.564293;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583398 rs62178978 T C 100 PASS AC=42;AF=0.271565;AN=214;NS=2504;DP=21003;EAS_AF=0.4375;AMR_AF=0.196;AFR_AF=0.2678;EUR_AF=0.16;SAS_AF=0.274;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.271565;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62178978;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1537;ExAC_nontcga_ALL=0.1932;ExAC_nontcga_AFR=0.2498;ExAC_nontcga_AMR=0.1786;ExAC_nontcga_EAS=0.4253;ExAC_nontcga_FIN=0.0942;ExAC_nontcga_NFE=0.1481;ExAC_nontcga_OTH=0.1510;ExAC_nontcga_SAS=0.2558;AF=0.1857;AF_popmax=0.4277;AF_male=0.1920;AF_female=0.1779;AF_raw=0.1857;AF_afr=0.2474;AF_sas=.;AF_amr=0.1946;AF_eas=0.4277;AF_nfe=0.1523;AF_fin=0.0860;AF_asj=0.1103;AF_oth=0.1535;non_topmed_AF_popmax=0.4239;non_neuro_AF_popmax=0.4277;non_cancer_AF_popmax=.;controls_AF_popmax=0.4471;Kaviar_AF=0.185825;Kaviar_AC=28729;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.199868;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179583496 rs16866465 T G 100 PASS AC=40;AF=0.238818;AN=214;NS=2504;DP=20020;EAS_AF=0.4375;AMR_AF=0.183;AFR_AF=0.1732;EUR_AF=0.1571;SAS_AF=0.2464;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon81:c.A20699C:p.E6900A,TTN:NM_001256850:exon82:c.A23480C:p.E7827A,TTN:NM_001267550:exon84:c.A24431C:p.E8144A;1000g2015aug_all=0.238818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866465;CLNALLELEID=55896;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.29;FATHMM_converted_rankscore=0.677;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.132;VEST3_rankscore=0.155;MetaSVM_score=-1.001;MetaSVM_rankscore=0.295;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.227;REVEL_rankscore=0.531;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.586;DANN_score=0.746;DANN_rankscore=0.104;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.894;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.120;Eigen-PC-raw=0.038;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.375;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=5.950;phyloP100way_vertebrate_rankscore=0.698;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.158;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=16.529;SiPhy_29way_logOdds_rankscore=0.841;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1517;ExAC_nontcga_ALL=0.1785;ExAC_nontcga_AFR=0.1534;ExAC_nontcga_AMR=0.1732;ExAC_nontcga_EAS=0.4265;ExAC_nontcga_FIN=0.0941;ExAC_nontcga_NFE=0.1447;ExAC_nontcga_OTH=0.1424;ExAC_nontcga_SAS=0.2246;AF=0.1574;AF_popmax=0.4244;AF_male=0.1614;AF_female=0.1523;AF_raw=0.1576;AF_afr=0.1524;AF_sas=.;AF_amr=0.1879;AF_eas=0.4244;AF_nfe=0.1498;AF_fin=0.0857;AF_asj=0.1;AF_oth=0.1442;non_topmed_AF_popmax=0.4213;non_neuro_AF_popmax=0.4244;non_cancer_AF_popmax=.;controls_AF_popmax=0.4448;Kaviar_AF=0.174739;Kaviar_AC=27015;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.218816;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179583966 rs368226720 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.G20419A:p.D6807N,TTN:NM_001256850:exon81:c.G23200A:p.D7734N,TTN:NM_001267550:exon83:c.G24151A:p.D8051N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368226720;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.343;Polyphen2_HDIV_rankscore=0.317;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.952;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.44;FATHMM_converted_rankscore=0.808;FATHMM_pred=T;PROVEAN_score=-3.57;PROVEAN_converted_rankscore=0.690;PROVEAN_pred=D;VEST3_score=0.057;VEST3_rankscore=0.305;MetaSVM_score=0.043;MetaSVM_rankscore=0.831;MetaSVM_pred=D;MetaLR_score=0.509;MetaLR_rankscore=0.815;MetaLR_pred=D;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.561;REVEL_rankscore=0.822;MutPred_score=0.85;MutPred_rankscore=0.952;CADD_raw=3.412;CADD_raw_rankscore=0.468;CADD_phred=23.0;DANN_score=0.985;DANN_rankscore=0.416;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.297;Eigen-PC-raw=0.371;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=6.120;phyloP100way_vertebrate_rankscore=0.711;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=15.258;SiPhy_29way_logOdds_rankscore=0.732;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.192e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.010188;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179583967 rs185062935 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.C20418T:p.S6806S,TTN:NM_001256850:exon81:c.C23199T:p.S7733S,TTN:NM_001267550:exon83:c.C24150T:p.S8050S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185062935;CLNALLELEID=55890;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0036739;Kaviar_AC=568;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.010188;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584152 rs201653851 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18761;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon80:c.C20233T:p.R6745C,TTN:NM_001256850:exon81:c.C23014T:p.R7672C,TTN:NM_001267550:exon83:c.C23965T:p.R7989C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201653851;CLNALLELEID=173221;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.065;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_rankscore=0.692;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.822;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-5.18;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.364;VEST3_rankscore=0.723;MetaSVM_score=0.205;MetaSVM_rankscore=0.860;MetaSVM_pred=D;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.498;M-CAP_pred=D;REVEL_score=0.493;REVEL_rankscore=0.782;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.575;CADD_raw_rankscore=0.487;CADD_phred=23.2;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_rankscore=0.535;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.848;Eigen-PC-raw=0.795;GenoCanyon_score=0.352;GenoCanyon_score_rankscore=0.197;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.13;GERP++_RS_rankscore=0.696;phyloP100way_vertebrate=2.204;phyloP100way_vertebrate_rankscore=0.422;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.361;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=14.070;SiPhy_29way_logOdds_rankscore=0.642;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0011;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.849e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.304e-05;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=7.191e-05;AF_raw=0.0001;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.661391;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584366 rs201766927 G T 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=19774;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon79:c.C20121A:p.A6707A,TTN:NM_001256850:exon80:c.C22902A:p.A7634A,TTN:NM_001267550:exon82:c.C23853A:p.A7951A;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201766927;CLNALLELEID=55887;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0035;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0143;AF=0.0011;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0031759;Kaviar_AC=491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.461981;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179584831 rs149523263 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20573;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149523263;CLNALLELEID=55886;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.315;SIFT_converted_rankscore=0.138;SIFT_pred=T;Polyphen2_HDIV_score=0.885;Polyphen2_HDIV_rankscore=0.467;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.484;Polyphen2_HVAR_rankscore=0.454;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.417;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.333;VEST3_rankscore=0.448;MetaSVM_score=-0.546;MetaSVM_rankscore=0.670;MetaSVM_pred=T;MetaLR_score=0.246;MetaLR_rankscore=0.616;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.555;CADD_raw_rankscore=0.147;CADD_phred=7.837;DANN_score=0.858;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.315;fathmm-MKL_coding_rankscore=0.241;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.447;Eigen-PC-raw=-0.586;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.108;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-2.56;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=0.894;phyloP100way_vertebrate_rankscore=0.278;phyloP20way_mammalian=-0.204;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.173;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.947;phastCons20way_mammalian_rankscore=0.422;SiPhy_29way_logOdds=13.015;SiPhy_29way_logOdds_rankscore=0.580;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0230;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280483;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179585257 rs72648972 G C 100 PASS AC=2;AF=0.00499201;AN=214;NS=2504;DP=18538;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648972;CLNALLELEID=55880;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.654;SIFT_converted_rankscore=0.048;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.19;FATHMM_converted_rankscore=0.659;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_converted_rankscore=0.285;PROVEAN_pred=N;VEST3_score=0.064;VEST3_rankscore=0.052;MetaSVM_score=-0.872;MetaSVM_rankscore=0.504;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.136;REVEL_rankscore=0.373;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.967;CADD_raw_rankscore=0.297;CADD_phred=16.00;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_rankscore=0.523;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.128;Eigen-PC-raw=0.044;GenoCanyon_score=0.238;GenoCanyon_score_rankscore=0.185;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.88;GERP++_RS_rankscore=0.630;phyloP100way_vertebrate=1.595;phyloP100way_vertebrate_rankscore=0.361;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.796;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0073;ExAC_nontcga_SAS=0.0193;AF=0.0012;AF_popmax=0.0016;AF_male=0.0013;AF_female=0.0010;AF_raw=0.0012;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.021140;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179585266 rs2562831 C T 100 PASS AC=214;AF=0.982029;AN=214;NS=2504;DP=18397;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9349;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q;1000g2015aug_all=0.982029;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562831;CLNALLELEID=55879;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9951;ExAC_nontcga_AFR=0.9446;ExAC_nontcga_AMR=0.9973;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9844;AF_popmax=1;AF_male=0.9831;AF_female=0.9861;AF_raw=0.9844;AF_afr=0.9448;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.943694;Kaviar_AC=145897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079564;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179585393 rs2562830 A G 100 PASS AC=50;AF=0.460064;AN=214;NS=2504;DP=17443;EAS_AF=0.6597;AMR_AF=0.3919;AFR_AF=0.5129;EUR_AF=0.2247;SAS_AF=0.4734;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.460064;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562830;CLNALLELEID=55875;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.016;esp6500siv2_ea=0.1985;ExAC_nontcga_ALL=0.3319;ExAC_nontcga_AFR=0.4883;ExAC_nontcga_AMR=0.4314;ExAC_nontcga_EAS=0.6765;ExAC_nontcga_FIN=0.2095;ExAC_nontcga_NFE=0.2129;ExAC_nontcga_OTH=0.2919;ExAC_nontcga_SAS=0.4751;AF=0.3009;AF_popmax=0.65;AF_male=0.3076;AF_female=0.2925;AF_raw=0.3013;AF_afr=0.4617;AF_sas=.;AF_amr=0.3998;AF_eas=0.65;AF_nfe=0.2008;AF_fin=0.1953;AF_asj=0.1759;AF_oth=0.2376;non_topmed_AF_popmax=0.6485;non_neuro_AF_popmax=0.65;non_cancer_AF_popmax=.;controls_AF_popmax=0.6711;Kaviar_AF=0.298812;Kaviar_AC=46197;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.215909::0.197508;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179585963 rs2742328 A G 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=14742;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742328;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0574;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0680;ExAC_nontcga_EAS=0.2686;ExAC_nontcga_FIN=0.0677;ExAC_nontcga_NFE=0.0387;ExAC_nontcga_OTH=0.0353;ExAC_nontcga_SAS=0.0123;AF=0.0309;AF_popmax=0.1869;AF_male=0.0318;AF_female=0.0299;AF_raw=0.0310;AF_afr=0.0054;AF_sas=.;AF_amr=0.0318;AF_eas=0.1869;AF_nfe=0.0239;AF_fin=0.0553;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1890;non_neuro_AF_popmax=0.1869;non_cancer_AF_popmax=.;controls_AF_popmax=0.1914;Kaviar_AF=0.0332208;Kaviar_AC=5136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179586604 rs72648970 C G 100 PASS AC=8;AF=0.0201677;AN=214;NS=2504;DP=21152;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0008;EUR_AF=0.0368;SAS_AF=0.0491;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon75:c.G19054C:p.D6352H,TTN:NM_001256850:exon76:c.G21835C:p.D7279H,TTN:NM_001267550:exon78:c.G22786C:p.D7596H;1000g2015aug_all=0.0201677;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648970;CLNALLELEID=55870;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.09;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.935;Polyphen2_HVAR_rankscore=0.653;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.242;VEST3_rankscore=0.305;MetaSVM_score=-0.373;MetaSVM_rankscore=0.729;MetaSVM_pred=T;MetaLR_score=0.204;MetaLR_rankscore=0.561;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.558;CADD_raw_rankscore=0.369;CADD_phred=19.84;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.880;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.804;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=4.119;phyloP100way_vertebrate_rankscore=0.574;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000163492.9;GTEx_V6p_tissue=Artery_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0386;ExAC_nontcga_ALL=0.0292;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0353;ExAC_nontcga_OTH=0.0239;ExAC_nontcga_SAS=0.0533;AF=0.0258;AF_popmax=0.0398;AF_male=0.0246;AF_female=0.0272;AF_raw=0.0258;AF_afr=0.0053;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0398;AF_fin=0.0273;AF_asj=0.0103;AF_oth=0.0387;non_topmed_AF_popmax=0.0429;non_neuro_AF_popmax=0.0393;non_cancer_AF_popmax=.;controls_AF_popmax=0.0455;Kaviar_AF=0.0278651;Kaviar_AC=4308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.768209;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +2 179586901 rs143276035 G GT 100 PASS AC=2;AF=0.00758786;AN=214;NS=2504;DP=22930;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0328;SAS_AF=0.001;AA=|||unknown(STR4?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143276035;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0223;ExAC_nontcga_ALL=0.0184;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0870;ExAC_nontcga_NFE=0.0205;ExAC_nontcga_OTH=0.0296;ExAC_nontcga_SAS=0.0018;AF=0.0241;AF_popmax=0.0246;AF_male=0.0236;AF_female=0.0247;AF_raw=0.0241;AF_afr=0.0033;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0246;AF_fin=0.0879;AF_asj=0.0103;AF_oth=0.0322;non_topmed_AF_popmax=0.0261;non_neuro_AF_popmax=0.0237;non_cancer_AF_popmax=.;controls_AF_popmax=0.0282;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179587130 rs12693166 C G 100 PASS AC=40;AF=0.247005;AN=214;NS=2504;DP=19242;EAS_AF=0.4375;AMR_AF=0.1844;AFR_AF=0.202;EUR_AF=0.1581;SAS_AF=0.2474;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon74:c.G18652C:p.D6218H,TTN:NM_001256850:exon75:c.G21433C:p.D7145H,TTN:NM_001267550:exon77:c.G22384C:p.D7462H;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12693166;CLNALLELEID=55863;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_converted_rankscore=0.280;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.79;FATHMM_converted_rankscore=0.737;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_converted_rankscore=0.669;PROVEAN_pred=D;VEST3_score=0.261;VEST3_rankscore=0.320;MetaSVM_score=-1.081;MetaSVM_rankscore=0.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.532;REVEL_rankscore=0.806;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.840;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.962;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.933;Eigen-PC-raw=0.931;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.16;GERP++_RS_rankscore=0.993;phyloP100way_vertebrate=7.898;phyloP100way_vertebrate_rankscore=0.859;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.860;SiPhy_29way_logOdds_rankscore=0.998;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1523;ExAC_nontcga_ALL=0.1804;ExAC_nontcga_AFR=0.1740;ExAC_nontcga_AMR=0.1745;ExAC_nontcga_EAS=0.4259;ExAC_nontcga_FIN=0.0940;ExAC_nontcga_NFE=0.1449;ExAC_nontcga_OTH=0.1424;ExAC_nontcga_SAS=0.2250;AF=0.1623;AF_popmax=0.4260;AF_male=0.1664;AF_female=0.1573;AF_raw=0.1626;AF_afr=0.1699;AF_sas=.;AF_amr=0.1879;AF_eas=0.4260;AF_nfe=0.1499;AF_fin=0.0856;AF_asj=0.1;AF_oth=0.1452;non_topmed_AF_popmax=0.4221;non_neuro_AF_popmax=0.4260;non_cancer_AF_popmax=.;controls_AF_popmax=0.4481;Kaviar_AF=0.176026;Kaviar_AC=27214;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.143939::0.198101;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.414269;ALLELE_END;VINYL_score=3 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179587546 rs16866473 A G 100 PASS AC=5;AF=0.0940495;AN=214;NS=2504;DP=18678;EAS_AF=0.0258;AMR_AF=0.1527;AFR_AF=0.0885;EUR_AF=0.0358;SAS_AF=0.1902;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.T18348C:p.D6116D,TTN:NM_001256850:exon74:c.T21129C:p.D7043D,TTN:NM_001267550:exon76:c.T22080C:p.D7360D;1000g2015aug_all=0.0940495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866473;CLNALLELEID=55860;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0242;ExAC_nontcga_ALL=0.0753;ExAC_nontcga_AFR=0.0926;ExAC_nontcga_AMR=0.1923;ExAC_nontcga_EAS=0.0264;ExAC_nontcga_FIN=0.0588;ExAC_nontcga_NFE=0.0273;ExAC_nontcga_OTH=0.0914;ExAC_nontcga_SAS=0.1750;AF=0.0502;AF_popmax=0.1619;AF_male=0.0495;AF_female=0.0511;AF_raw=0.0503;AF_afr=0.0869;AF_sas=.;AF_amr=0.1619;AF_eas=0.0336;AF_nfe=0.0250;AF_fin=0.0533;AF_asj=0.0276;AF_oth=0.0478;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1630;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.479550;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179587552 rs34562585 T C 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.A18342G:p.K6114K,TTN:NM_001256850:exon74:c.A21123G:p.K7041K,TTN:NM_001267550:exon76:c.A22074G:p.K7358K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34562585;CLNALLELEID=55858;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0057;AF_popmax=0.0090;AF_male=0.0064;AF_female=0.0050;AF_raw=0.0057;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0090;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0074126;Kaviar_AC=1146;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.657078;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179587670 rs374870814 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20395;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374870814;CLNALLELEID=450028;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.020239;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179587687 rs2742327 T C 100 PASS AC=50;AF=0.48722;AN=214;NS=2504;DP=20869;EAS_AF=0.6587;AMR_AF=0.3991;AFR_AF=0.612;EUR_AF=0.2247;SAS_AF=0.4744;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.48722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2016;ExAC_nontcga_ALL=0.3289;ExAC_nontcga_AFR=0.5613;ExAC_nontcga_AMR=0.4278;ExAC_nontcga_EAS=0.6778;ExAC_nontcga_FIN=0.2079;ExAC_nontcga_NFE=0.2059;ExAC_nontcga_OTH=0.2816;ExAC_nontcga_SAS=0.4376;AF=0.3264;AF_popmax=0.6479;AF_male=0.3338;AF_female=0.3170;AF_raw=0.3263;AF_afr=0.5496;AF_sas=.;AF_amr=0.4033;AF_eas=0.6479;AF_nfe=0.2017;AF_fin=0.1951;AF_asj=0.1897;AF_oth=0.2459;non_topmed_AF_popmax=0.6464;non_neuro_AF_popmax=0.6479;non_cancer_AF_popmax=.;controls_AF_popmax=0.6714;Kaviar_AF=0.30693;Kaviar_AC=47452;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.237643::0.177967;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629535|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179588535 rs148937450 G A 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=22158;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148937450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0067;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0003;AF=0.0059;AF_popmax=0.0089;AF_male=0.0056;AF_female=0.0063;AF_raw=0.0059;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0055;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.003454;Kaviar_AC=534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179588908 rs72648963 A C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21998;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0072;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648963;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0255;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0172;ExAC_nontcga_SAS=0.0078;AF=0.0039;AF_popmax=0.0020;AF_male=0.0031;AF_female=0.0049;AF_raw=0.0039;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0236;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.002749;Kaviar_AC=425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179589058 rs72648960 G A 100 PASS AC=2;AF=0.0357428;AN=214;NS=2504;DP=22442;EAS_AF=0.1379;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V;1000g2015aug_all=0.0357428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648960;CLNALLELEID=55845;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.074;SIFT_converted_rankscore=0.346;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_rankscore=0.239;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_rankscore=0.282;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-2.43;PROVEAN_converted_rankscore=0.532;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.451;MetaSVM_score=-1.127;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.007;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.243;REVEL_rankscore=0.554;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.818;CADD_raw_rankscore=0.399;CADD_phred=21.5;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_rankscore=0.543;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.070;Eigen-PC-raw=0.266;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.418;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=0.757;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.946;phastCons100way_vertebrate_rankscore=0.326;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=16.243;SiPhy_29way_logOdds_rankscore=0.822;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0174;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0.1198;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0284;AF=0.0117;AF_popmax=0.1192;AF_male=0.0116;AF_female=0.0118;AF_raw=0.0117;AF_afr=0.0021;AF_sas=.;AF_amr=0.0012;AF_eas=0.1192;AF_nfe=0.0037;AF_fin=0.0250;AF_asj=0.0069;AF_oth=0.0165;non_topmed_AF_popmax=0.1209;non_neuro_AF_popmax=0.1192;non_cancer_AF_popmax=.;controls_AF_popmax=0.1;Kaviar_AF=0.0150904;Kaviar_AC=2333;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.299206;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +2 179589217 rs531296995 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17525;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.G17153A:p.G5718E,TTN:NM_001256850:exon70:c.G19934A:p.G6645E,TTN:NM_001267550:exon72:c.G20885A:p.G6962E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531296995;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.4;FATHMM_converted_rankscore=0.805;FATHMM_pred=T;PROVEAN_score=-5.17;PROVEAN_converted_rankscore=0.835;PROVEAN_pred=D;VEST3_score=0.507;VEST3_rankscore=0.551;MetaSVM_score=0.471;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.713;MetaLR_rankscore=0.902;MetaLR_pred=D;M-CAP_score=0.062;M-CAP_rankscore=0.685;M-CAP_pred=D;REVEL_score=0.611;REVEL_rankscore=0.850;MutPred_score=0.832;MutPred_rankscore=0.941;CADD_raw=3.330;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.823;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.883;Eigen-PC-raw=0.862;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.02;GERP++_RS_rankscore=0.975;phyloP100way_vertebrate=6.153;phyloP100way_vertebrate_rankscore=0.714;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.541;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.596e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.020355;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179589241 rs17355446 G A 100 PASS AC=3;AF=0.0515176;AN=214;NS=2504;DP=17137;EAS_AF=0.002;AMR_AF=0.1441;AFR_AF=0.0023;EUR_AF=0.0298;SAS_AF=0.1258;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17129T:p.A5710V,TTN:NM_001256850:exon70:c.C19910T:p.A6637V,TTN:NM_001267550:exon72:c.C20861T:p.A6954V;1000g2015aug_all=0.0515176;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17355446;CLNALLELEID=55842;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.548;SIFT_converted_rankscore=0.066;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_rankscore=0.434;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.228;Polyphen2_HVAR_rankscore=0.364;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.04;FATHMM_converted_rankscore=0.402;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.15;VEST3_rankscore=0.222;MetaSVM_score=-1.154;MetaSVM_rankscore=0.009;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.167;CADD_raw_rankscore=0.440;CADD_phred=22.7;DANN_score=0.988;DANN_rankscore=0.464;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.820;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.494;Eigen-PC-raw=0.617;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=6.549;phyloP100way_vertebrate_rankscore=0.736;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=20.521;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0190;ExAC_nontcga_ALL=0.0552;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.1876;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0562;ExAC_nontcga_NFE=0.0197;ExAC_nontcga_OTH=0.0816;ExAC_nontcga_SAS=0.1387;AF=0.0230;AF_popmax=0.1560;AF_male=0.0214;AF_female=0.0252;AF_raw=0.0231;AF_afr=0.0072;AF_sas=.;AF_amr=0.1560;AF_eas=0.0006;AF_nfe=0.0194;AF_fin=0.0521;AF_asj=0.0241;AF_oth=0.0368;non_topmed_AF_popmax=0.1621;non_neuro_AF_popmax=0.1558;non_cancer_AF_popmax=.;controls_AF_popmax=0.1557;Kaviar_AF=0.0467652;Kaviar_AC=7230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.726248;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179589260 rs147210608 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17138;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.G17110A:p.A5704T,TTN:NM_001256850:exon70:c.G19891A:p.A6631T,TTN:NM_001267550:exon72:c.G20842A:p.A6948T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147210608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_rankscore=0.566;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.561;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.235;VEST3_rankscore=0.640;MetaSVM_score=-0.838;MetaSVM_rankscore=0.528;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.510;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.676;M-CAP_pred=D;REVEL_score=0.288;REVEL_rankscore=0.611;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.991;CADD_raw_rankscore=0.537;CADD_phred=23.6;DANN_score=0.988;DANN_rankscore=0.453;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.715;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.669;Eigen-PC-raw=0.716;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.01;GERP++_RS_rankscore=0.974;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=20.521;SiPhy_29way_logOdds_rankscore=0.992;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.115e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.337e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.937e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.375e-05;AF_popmax=0.0012;AF_male=5.727e-05;AF_female=7.187e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.751399;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179590133 rs200118743 C G 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=21390;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G17066C:p.G5689A,TTN:NM_001256850:exon69:c.G19847C:p.G6616A,TTN:NM_001267550:exon71:c.G20798C:p.G6933A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200118743;CLNALLELEID=55840;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.803;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.1;FATHMM_converted_rankscore=0.643;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_converted_rankscore=0.498;PROVEAN_pred=N;VEST3_score=0.218;VEST3_rankscore=0.319;MetaSVM_score=-0.933;MetaSVM_rankscore=0.436;MetaSVM_pred=T;MetaLR_score=0.050;MetaLR_rankscore=0.215;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.139;M-CAP_pred=T;REVEL_score=0.218;REVEL_rankscore=0.517;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.435;CADD_raw_rankscore=0.354;CADD_phred=19.04;DANN_score=0.965;DANN_rankscore=0.294;fathmm-MKL_coding_score=0.638;fathmm-MKL_coding_rankscore=0.319;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.297;Eigen-PC-raw=0.050;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.93;GERP++_RS_rankscore=0.643;phyloP100way_vertebrate=5.543;phyloP100way_vertebrate_rankscore=0.667;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=14.206;SiPhy_29way_logOdds_rankscore=0.651;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006533;Kaviar_AC=101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.354348;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179590329 rs17355460 C T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=20718;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G16870A:p.G5624R,TTN:NM_001256850:exon69:c.G19651A:p.G6551R,TTN:NM_001267550:exon71:c.G20602A:p.G6868R;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17355460;CLNALLELEID=55837;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.085;SIFT_converted_rankscore=0.327;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.48;FATHMM_converted_rankscore=0.812;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_converted_rankscore=0.791;PROVEAN_pred=D;VEST3_score=0.309;VEST3_rankscore=0.372;MetaSVM_score=0.562;MetaSVM_rankscore=0.914;MetaSVM_pred=D;MetaLR_score=0.674;MetaLR_rankscore=0.887;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.596;REVEL_rankscore=0.842;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.112;CADD_raw_rankscore=0.434;CADD_phred=22.5;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.795;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.863;Eigen-PC-raw=0.758;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.86;GERP++_RS_rankscore=0.939;phyloP100way_vertebrate=5.852;phyloP100way_vertebrate_rankscore=0.690;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.348;phastCons20way_mammalian_rankscore=0.245;SiPhy_29way_logOdds=20.563;SiPhy_29way_logOdds_rankscore=0.993;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0173;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0079;ExAC_nontcga_NFE=0.0163;ExAC_nontcga_OTH=0.0152;ExAC_nontcga_SAS=0.0098;AF=0.0106;AF_popmax=0.0149;AF_male=0.0108;AF_female=0.0103;AF_raw=0.0106;AF_afr=0.0041;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0149;AF_fin=0.0109;AF_asj=0.0207;AF_oth=0.0101;non_topmed_AF_popmax=0.0127;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0119856;Kaviar_AC=1853;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.232425;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179591757 rs573294708 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21103;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573294708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179591917 rs146627500 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18775;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0276;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146627500;CLNALLELEID=55832;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.114;SIFT_converted_rankscore=0.286;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.127;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.405;MetaSVM_score=-1.083;MetaSVM_rankscore=0.068;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_rankscore=0.238;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.660;CADD_raw_rankscore=0.013;CADD_phred=0.002;DANN_score=0.621;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.054;fathmm-MKL_coding_rankscore=0.111;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.212;Eigen-PC-raw=-1.264;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.427;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-6.74;GERP++_RS_rankscore=0.016;phyloP100way_vertebrate=-0.713;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=0.144;phyloP20way_mammalian_rankscore=0.231;phastCons100way_vertebrate=0.033;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=2.94;SiPhy_29way_logOdds_rankscore=0.054;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0231;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.003661;Kaviar_AC=566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.530850;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179592161 rs2255480 A G 100 PASS AC=3;AF=0.0513179;AN=214;NS=2504;DP=21792;EAS_AF=0.1964;AMR_AF=0.0274;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0092;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0513179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2255480;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0310;AF_popmax=0.1892;AF_male=0.0318;AF_female=0.0300;AF_raw=0.0311;AF_afr=0.0052;AF_sas=.;AF_amr=0.0318;AF_eas=0.1892;AF_nfe=0.0239;AF_fin=0.0552;AF_asj=0.0379;AF_oth=0.0331;non_topmed_AF_popmax=0.1913;non_neuro_AF_popmax=0.1892;non_cancer_AF_popmax=.;controls_AF_popmax=0.1941;Kaviar_AF=0.0062742;Kaviar_AC=970;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593270 rs76771282 A G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=21199;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.T15651C:p.N5217N,TTN:NM_001256850:exon64:c.T18432C:p.N6144N,TTN:NM_001267550:exon66:c.T19383C:p.N6461N;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76771282;CLNALLELEID=55823;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0116;ExAC_nontcga_OTH=0.0030;ExAC_nontcga_SAS=0.0029;AF=0.0065;AF_popmax=0.0100;AF_male=0.0064;AF_female=0.0067;AF_raw=0.0065;AF_afr=0.0023;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0058;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0095;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0074;Kaviar_AF=0.0074449;Kaviar_AC=1151;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.545508;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593352 rs11888217 C T 100 PASS AC=5;AF=0.0932508;AN=214;NS=2504;DP=20407;EAS_AF=0.0238;AMR_AF=0.1513;AFR_AF=0.087;EUR_AF=0.0358;SAS_AF=0.1912;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.G15569A:p.S5190N,TTN:NM_001256850:exon64:c.G18350A:p.S6117N,TTN:NM_001267550:exon66:c.G19301A:p.S6434N;1000g2015aug_all=0.0932508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11888217;CLNALLELEID=55821;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.376;SIFT_converted_rankscore=0.113;SIFT_pred=T;Polyphen2_HDIV_score=0.549;Polyphen2_HDIV_rankscore=0.362;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.258;Polyphen2_HVAR_rankscore=0.376;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_converted_rankscore=0.395;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.031;MetaSVM_score=-0.792;MetaSVM_rankscore=0.556;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.043;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.249;REVEL_rankscore=0.562;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.515;CADD_raw_rankscore=0.244;CADD_phred=13.39;DANN_score=0.891;DANN_rankscore=0.179;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.648;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.259;Eigen-PC-raw=0.306;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.333;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.73;GERP++_RS_rankscore=0.593;phyloP100way_vertebrate=1.525;phyloP100way_vertebrate_rankscore=0.353;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.666;SiPhy_29way_logOdds_rankscore=0.850;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0246;ExAC_nontcga_ALL=0.0745;ExAC_nontcga_AFR=0.0883;ExAC_nontcga_AMR=0.1894;ExAC_nontcga_EAS=0.0244;ExAC_nontcga_FIN=0.0580;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0904;ExAC_nontcga_SAS=0.1742;AF=0.0487;AF_popmax=0.1627;AF_male=0.0482;AF_female=0.0493;AF_raw=0.0487;AF_afr=0.0817;AF_sas=.;AF_amr=0.1627;AF_eas=0.0315;AF_nfe=0.0250;AF_fin=0.0527;AF_asj=0.0310;AF_oth=0.0479;non_topmed_AF_popmax=0.1691;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0656654;Kaviar_AC=10152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.031751;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179593862 rs72648950 G A 100 PASS AC=1;AF=0.0241613;AN=214;NS=2504;DP=21144;EAS_AF=0;AMR_AF=0.147;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.0102;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon62:c.C15171T:p.T5057T,TTN:NM_001256850:exon63:c.C17952T:p.T5984T,TTN:NM_001267550:exon65:c.C18903T:p.T6301T;1000g2015aug_all=0.0241613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648950;CLNALLELEID=55814;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0282;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.1846;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0285;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0326;ExAC_nontcga_SAS=0.0137;AF=0.0120;AF_popmax=0.1466;AF_male=0.0100;AF_female=0.0144;AF_raw=0.0120;AF_afr=0.0051;AF_sas=.;AF_amr=0.1466;AF_eas=0;AF_nfe=0.0063;AF_fin=0.0259;AF_asj=0.0069;AF_oth=0.0175;non_topmed_AF_popmax=0.1522;non_neuro_AF_popmax=0.1486;non_cancer_AF_popmax=.;controls_AF_popmax=0.1504;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.442886;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179594059 rs184412722 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20330;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184412722;CLNALLELEID=55811;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.075;SIFT_converted_rankscore=0.344;SIFT_pred=T;Polyphen2_HDIV_score=0.362;Polyphen2_HDIV_rankscore=0.322;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.11;Polyphen2_HVAR_rankscore=0.299;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.32;FATHMM_converted_rankscore=0.585;FATHMM_pred=T;PROVEAN_score=-2.25;PROVEAN_converted_rankscore=0.503;PROVEAN_pred=N;VEST3_score=0.084;VEST3_rankscore=0.245;MetaSVM_score=-0.555;MetaSVM_rankscore=0.666;MetaSVM_pred=T;MetaLR_score=0.244;MetaLR_rankscore=0.613;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.286;REVEL_rankscore=0.609;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.545;CADD_raw_rankscore=0.146;CADD_phred=7.770;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.782;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.319;Eigen-PC-raw=0.382;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=6.260;phyloP100way_vertebrate_rankscore=0.723;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=12.2;SiPhy_29way_logOdds_rankscore=0.534;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0242;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0037904;Kaviar_AC=586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.083578;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179594653 rs556770980 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18769;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon60:c.G14595T:p.K4865N,TTN:NM_001256850:exon61:c.G17376T:p.K5792N,TTN:NM_001267550:exon63:c.G18327T:p.K6109N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556770980;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.423;SIFT_converted_rankscore=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.602;Polyphen2_HVAR_rankscore=0.490;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=-2.65;PROVEAN_converted_rankscore=0.567;PROVEAN_pred=D;VEST3_score=0.103;VEST3_rankscore=0.182;MetaSVM_score=-0.211;MetaSVM_rankscore=0.774;MetaSVM_pred=T;MetaLR_score=0.369;MetaLR_rankscore=0.729;MetaLR_pred=T;M-CAP_score=0.035;M-CAP_rankscore=0.559;M-CAP_pred=D;REVEL_score=0.384;REVEL_rankscore=0.705;MutPred_score=0.53;MutPred_rankscore=0.638;CADD_raw=3.147;CADD_raw_rankscore=0.438;CADD_phred=22.6;DANN_score=0.967;DANN_rankscore=0.302;fathmm-MKL_coding_score=0.943;fathmm-MKL_coding_rankscore=0.604;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.461;Eigen-PC-raw=0.469;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.345;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=1.603;phyloP100way_vertebrate_rankscore=0.362;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.308;SiPhy_29way_logOdds_rankscore=0.736;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.04e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.019e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.247269;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595117 rs17076 C G 100 PASS AC=46;AF=0.348043;AN=214;NS=2504;DP=19088;EAS_AF=0.6637;AMR_AF=0.3386;AFR_AF=0.2859;EUR_AF=0.1889;SAS_AF=0.2771;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348043;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17076;CLNALLELEID=141541;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1789;ExAC_nontcga_ALL=0.2632;ExAC_nontcga_AFR=0.2657;ExAC_nontcga_AMR=0.4183;ExAC_nontcga_EAS=0.6747;ExAC_nontcga_FIN=0.1533;ExAC_nontcga_NFE=0.1845;ExAC_nontcga_OTH=0.1954;ExAC_nontcga_SAS=0.2780;AF=0.2243;AF_popmax=0.6472;AF_male=0.2302;AF_female=0.2169;AF_raw=0.2241;AF_afr=0.2589;AF_sas=.;AF_amr=0.3578;AF_eas=0.6472;AF_nfe=0.1770;AF_fin=0.1431;AF_asj=0.1517;AF_oth=0.1869;non_topmed_AF_popmax=0.6462;non_neuro_AF_popmax=0.6472;non_cancer_AF_popmax=.;controls_AF_popmax=0.6638;Kaviar_AF=0.233147;Kaviar_AC=36045;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.188213::0.234971;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179595372 rs146983095 T C 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=17189;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon58:c.A14156G:p.E4719G,TTN:NM_001256850:exon59:c.A16937G:p.E5646G,TTN:NM_001267550:exon61:c.A17888G:p.E5963G;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146983095;CLNALLELEID=55798;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.535;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.648;PROVEAN_pred=D;VEST3_score=0.258;VEST3_rankscore=0.319;MetaSVM_score=-1.087;MetaSVM_rankscore=0.061;MetaSVM_pred=T;MetaLR_score=0.044;MetaLR_rankscore=0.187;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.110;REVEL_rankscore=0.316;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.928;CADD_raw_rankscore=0.292;CADD_phred=15.76;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.661;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=0.188;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.99;GERP++_RS_rankscore=0.973;phyloP100way_vertebrate=5.049;phyloP100way_vertebrate_rankscore=0.638;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=10.771;SiPhy_29way_logOdds_rankscore=0.453;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0029;AF=0.0065;AF_popmax=0.0099;AF_male=0.0063;AF_female=0.0067;AF_raw=0.0065;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0099;AF_fin=0.0058;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0074643;Kaviar_AC=1154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.107385;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595577 rs555154960;rs576861043;rs72394294 GT GTT,G 100 PASS AC=7,6;AF=0.111422,0.109225;AN=214;NS=2504;DP=19246;EAS_AF=0.0238,0.1925;AMR_AF=0.1571,0.1542;AFR_AF=0.1445,0.1316;EUR_AF=0.0388,0.0328;SAS_AF=0.1994,0.0399;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.109225;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35147775;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0738;AF_popmax=0.1903;AF_male=0.0758;AF_female=0.0712;AF_raw=0.0693;AF_afr=0.1208;AF_sas=.;AF_amr=0.1903;AF_eas=0.1897;AF_nfe=0.0284;AF_fin=0.0796;AF_asj=0.0496;AF_oth=0.0528;non_topmed_AF_popmax=0.1918;non_neuro_AF_popmax=0.1897;non_cancer_AF_popmax=.;controls_AF_popmax=0.2151;Kaviar_AF=0.0034962;Kaviar_AC=91;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|1 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|2 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595588 rs376726021 TA T 100 PASS AC=2;AF=0.00858626;AN=214;NS=2504;DP=18874;EAS_AF=0.002;AMR_AF=0.0259;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0041;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376726021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0347;AF_male=0.0132;AF_female=0.0122;AF_raw=0.0128;AF_afr=0.0043;AF_sas=.;AF_amr=0.0347;AF_eas=0.0026;AF_nfe=0.0197;AF_fin=0.0029;AF_asj=0.0172;AF_oth=0.0102;non_topmed_AF_popmax=0.0338;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376726021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0128;AF_popmax=0.0347;AF_male=0.0132;AF_female=0.0122;AF_raw=0.0128;AF_afr=0.0043;AF_sas=.;AF_amr=0.0347;AF_eas=0.0026;AF_nfe=0.0197;AF_fin=0.0029;AF_asj=0.0172;AF_oth=0.0102;non_topmed_AF_popmax=0.0338;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0328;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179595589 rs546095518 A T 100 PASS AC=3;AF=0.0205671;AN=214;NS=2504;DP=18897;EAS_AF=0.001;AMR_AF=0.0346;AFR_AF=0.0068;EUR_AF=0.0229;SAS_AF=0.047;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546095518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0014;AF_popmax=0.0042;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0042;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0047641;Kaviar_AC=124;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546095518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0014;AF_popmax=0.0042;AF_male=0.0016;AF_female=0.0011;AF_raw=0.0017;AF_afr=0.0042;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0037;Kaviar_AF=0.0047641;Kaviar_AC=124;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179596554 rs72648942 T C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=21071;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648942;CLNALLELEID=55786;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.106;SIFT_converted_rankscore=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.218;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.39;FATHMM_converted_rankscore=0.692;FATHMM_pred=T;PROVEAN_score=-4.81;PROVEAN_converted_rankscore=0.807;PROVEAN_pred=D;VEST3_score=0.382;VEST3_rankscore=0.607;MetaSVM_score=-0.702;MetaSVM_rankscore=0.604;MetaSVM_pred=T;MetaLR_score=0.233;MetaLR_rankscore=0.599;MetaLR_pred=T;M-CAP_score=0.076;M-CAP_rankscore=0.726;M-CAP_pred=D;REVEL_score=0.421;REVEL_rankscore=0.733;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.446;CADD_raw_rankscore=0.018;CADD_phred=0.003;DANN_score=0.352;DANN_rankscore=0.022;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.761;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.679;Eigen-PC-raw=-0.580;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.8;GERP++_RS_rankscore=0.427;phyloP100way_vertebrate=5.161;phyloP100way_vertebrate_rankscore=0.646;phyloP20way_mammalian=-0.212;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=10.476;SiPhy_29way_logOdds_rankscore=0.437;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0072;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0088;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0045;AF=0.0043;AF_popmax=0.0066;AF_male=0.0044;AF_female=0.0042;AF_raw=0.0043;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0046;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0069;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0058667;Kaviar_AC=907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.103214;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597242 rs72648940 C A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18933;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon53:c.G12814T:p.D4272Y,TTN:NM_001256850:exon54:c.G15595T:p.D5199Y,TTN:NM_001267550:exon56:c.G16546T:p.D5516Y;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648940;CLNALLELEID=55783;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_rankscore=0.643;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.955;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.54;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-5.35;PROVEAN_converted_rankscore=0.847;PROVEAN_pred=D;VEST3_score=0.514;VEST3_rankscore=0.568;MetaSVM_score=0.453;MetaSVM_rankscore=0.899;MetaSVM_pred=D;MetaLR_score=0.670;MetaLR_rankscore=0.886;MetaLR_pred=D;M-CAP_score=0.024;M-CAP_rankscore=0.471;M-CAP_pred=T;REVEL_score=0.491;REVEL_rankscore=0.781;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.791;CADD_raw_rankscore=0.276;CADD_phred=14.94;DANN_score=0.899;DANN_rankscore=0.186;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.845;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.891;Eigen-PC-raw=0.848;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=5.989;phyloP100way_vertebrate_rankscore=0.701;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.931;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=20.879;SiPhy_29way_logOdds_rankscore=0.999;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=6.101e-05;AF=0.0004;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.928142;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597273 rs201625116 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18093;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon53:c.T12783C:p.S4261S,TTN:NM_001256850:exon54:c.T15564C:p.S5188S,TTN:NM_001267550:exon56:c.T16515C:p.S5505S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201625116;CLNALLELEID=195117;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=9.565e-05;AF_popmax=0.0001;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.163806;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179597600 rs72648937 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=21767;EAS_AF=0;AMR_AF=0;AFR_AF=0.0053;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon52:c.G12571A:p.V4191M,TTN:NM_001256850:exon53:c.G15352A:p.V5118M,TTN:NM_001267550:exon55:c.G16303A:p.V5435M;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648937;CLNALLELEID=55779;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.222;SIFT_converted_rankscore=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.086;Polyphen2_HDIV_rankscore=0.234;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_rankscore=0.225;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.289;VEST3_rankscore=0.425;MetaSVM_score=-0.775;MetaSVM_rankscore=0.566;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.130;REVEL_rankscore=0.360;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.783;CADD_raw_rankscore=0.395;CADD_phred=21.3;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.582;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.055;Eigen-PC-raw=0.234;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=4.895;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=15.870;SiPhy_29way_logOdds_rankscore=0.788;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0052;ExAC_nontcga_AFR=0.0049;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0075;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0031;AF=0.0074;AF_popmax=0.0095;AF_male=0.0078;AF_female=0.0068;AF_raw=0.0074;AF_afr=0.0059;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0055;AF_asj=0.0138;AF_oth=0.0055;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0058214;Kaviar_AC=900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.575959;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179598228 rs12993099 A G 100 PASS AC=26;AF=0.0295527;AN=214;NS=2504;DP=17704;EAS_AF=0;AMR_AF=0.062;AFR_AF=0.0023;EUR_AF=0.0895;SAS_AF=0.0123;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.T12060C:p.I4020I,TTN:NM_001256850:exon52:c.T14841C:p.I4947I,TTN:NM_001267550:exon54:c.T15792C:p.I5264I;1000g2015aug_all=0.0295527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12993099;CLNALLELEID=55772;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0792;ExAC_nontcga_ALL=0.0518;ExAC_nontcga_AFR=0.0101;ExAC_nontcga_AMR=0.0408;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0446;ExAC_nontcga_NFE=0.0788;ExAC_nontcga_OTH=0.0669;ExAC_nontcga_SAS=0.0174;AF=0.0511;AF_popmax=0.0769;AF_male=0.0510;AF_female=0.0512;AF_raw=0.0512;AF_afr=0.0126;AF_sas=.;AF_amr=0.0660;AF_eas=0.0006;AF_nfe=0.0769;AF_fin=0.0458;AF_asj=0.0552;AF_oth=0.0699;non_topmed_AF_popmax=0.0734;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0813;Kaviar_AF=0.0534663;Kaviar_AC=8266;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.551159;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179599355 rs138042430 G C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20293;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138042430;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0259;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0034799;Kaviar_AC=538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179599473 rs72648929 C G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=20551;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0123;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648929;CLNALLELEID=55764;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.586;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.708;Polyphen2_HDIV_rankscore=0.401;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.387;Polyphen2_HVAR_rankscore=0.423;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.879;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.320;PROVEAN_pred=N;VEST3_score=0.227;VEST3_rankscore=0.298;MetaSVM_score=-0.597;MetaSVM_rankscore=0.649;MetaSVM_pred=T;MetaLR_score=0.234;MetaLR_rankscore=0.601;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.514;CADD_raw_rankscore=0.244;CADD_phred=13.38;DANN_score=0.452;DANN_rankscore=0.035;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.870;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.128;Eigen-PC-raw=0.163;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=6.166;phyloP100way_vertebrate_rankscore=0.715;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.056;phastCons20way_mammalian_rankscore=0.168;SiPhy_29way_logOdds=19.757;SiPhy_29way_logOdds_rankscore=0.963;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0038;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0086;AF=0.0020;AF_popmax=0.0038;AF_male=0.0021;AF_female=0.0019;AF_raw=0.0020;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0034864;Kaviar_AC=539;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.148805;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179599667 rs72648927 G C 100 PASS AC=1;AF=0.00439297;AN=214;NS=2504;DP=18565;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon48:c.C11252G:p.P3751R,TTN:NM_001256850:exon49:c.C14033G:p.P4678R,TTN:NM_001267550:exon51:c.C14984G:p.P4995R;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648927;CLNALLELEID=55760;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.332;SIFT_converted_rankscore=0.130;SIFT_pred=T;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_rankscore=0.392;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.335;Polyphen2_HVAR_rankscore=0.405;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=-4.23;PROVEAN_converted_rankscore=0.759;PROVEAN_pred=D;VEST3_score=0.42;VEST3_rankscore=0.477;MetaSVM_score=-1.072;MetaSVM_rankscore=0.089;MetaSVM_pred=T;MetaLR_score=0.043;MetaLR_rankscore=0.186;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.189;REVEL_rankscore=0.471;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.674;CADD_raw_rankscore=0.262;CADD_phred=14.26;DANN_score=0.883;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.756;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.346;Eigen-PC-raw=0.490;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=5.768;phyloP100way_vertebrate_rankscore=0.683;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=13.436;SiPhy_29way_logOdds_rankscore=0.604;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0333;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0126;ExAC_nontcga_SAS=0.0059;AF=0.0091;AF_popmax=0.0109;AF_male=0.0091;AF_female=0.0090;AF_raw=0.0091;AF_afr=0.0010;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0109;AF_fin=0.0256;AF_asj=0.0138;AF_oth=0.0092;non_topmed_AF_popmax=0.0122;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.0072703;Kaviar_AC=1124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.451773;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179600303 rs72648925 G C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18755;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648925;CLNALLELEID=55759;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.845;SIFT_converted_rankscore=0.028;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_rankscore=0.282;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.385;MetaSVM_score=-0.764;MetaSVM_rankscore=0.572;MetaSVM_pred=T;MetaLR_score=0.210;MetaLR_rankscore=0.570;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.460;M-CAP_pred=T;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.289;CADD_raw_rankscore=0.219;CADD_phred=12.21;DANN_score=0.787;DANN_rankscore=0.120;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_rankscore=0.516;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.017;Eigen-PC-raw=0.154;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.330;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.79;GERP++_RS_rankscore=0.608;phyloP100way_vertebrate=2.045;phyloP100way_vertebrate_rankscore=0.406;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=13.953;SiPhy_29way_logOdds_rankscore=0.635;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0043;ExAC_nontcga_OTH=0.0031;ExAC_nontcga_SAS=0.0015;AF=0.0022;AF_popmax=0.0059;AF_male=0.0018;AF_female=0.0028;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0006;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0031436;Kaviar_AC=486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.229185;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179600563 rs2742348 G A 100 PASS AC=214;AF=0.981829;AN=214;NS=2504;DP=21596;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9342;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S;1000g2015aug_all=0.981829;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742348;CLNALLELEID=55755;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9950;ExAC_nontcga_AFR=0.9433;ExAC_nontcga_AMR=0.9974;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9843;AF_popmax=1;AF_male=0.9829;AF_female=0.9861;AF_raw=0.9843;AF_afr=0.9445;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.943662;Kaviar_AC=145892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.791376;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179600648 rs2742347 C T 100 PASS AC=7;AF=0.144768;AN=214;NS=2504;DP=20242;EAS_AF=0.1935;AMR_AF=0.1916;AFR_AF=0.2284;EUR_AF=0.0517;SAS_AF=0.044;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.G10793A:p.R3598K,TTN:NM_001256850:exon48:c.G13574A:p.R4525K,TTN:NM_001267550:exon50:c.G14525A:p.R4842K;1000g2015aug_all=0.144768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742347;CLNALLELEID=55751;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.973;SIFT_converted_rankscore=0.020;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.03;VEST3_rankscore=0.011;MetaSVM_score=-1.067;MetaSVM_rankscore=0.102;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.315;CADD_raw_rankscore=0.124;CADD_phred=5.839;DANN_score=0.620;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_rankscore=0.260;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.369;Eigen-PC-raw=-0.411;GenoCanyon_score=0.805;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.76;GERP++_RS_rankscore=0.237;phyloP100way_vertebrate=0.507;phyloP100way_vertebrate_rankscore=0.222;phyloP20way_mammalian=-0.208;phyloP20way_mammalian_rankscore=0.100;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=9.396;SiPhy_29way_logOdds_rankscore=0.374;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000223960.2;GTEx_V6p_tissue=Nerve_Tibial;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0479;ExAC_nontcga_ALL=0.0988;ExAC_nontcga_AFR=0.2142;ExAC_nontcga_AMR=0.2739;ExAC_nontcga_EAS=0.2182;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0498;ExAC_nontcga_OTH=0.0667;ExAC_nontcga_SAS=0.0432;AF=0.1084;AF_popmax=0.2203;AF_male=0.1131;AF_female=0.1025;AF_raw=0.1087;AF_afr=0.2203;AF_sas=.;AF_amr=0.2116;AF_eas=0.1865;AF_nfe=0.0466;AF_fin=0.0584;AF_asj=0.0793;AF_oth=0.0656;non_topmed_AF_popmax=0.2210;non_neuro_AF_popmax=0.2312;non_cancer_AF_popmax=.;controls_AF_popmax=0.2239;Kaviar_AF=0.0916288;Kaviar_AC=14166;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004598|hsa-miR-141-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179603837 rs145308122 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=18443;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145308122;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0270;AF=0.0009;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0010;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604101 rs55857742 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=21471;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G12770A:p.G4257D,TTN:NM_001256850:exon46:c.G12908A:p.G4303D,TTN:NM_133432:exon46:c.G13145A:p.G4382D,TTN:NM_133437:exon46:c.G13346A:p.G4449D,TTN:NM_001267550:exon48:c.G13859A:p.G4620D;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55857742;CLNALLELEID=57005;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_converted_rankscore=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.39;FATHMM_converted_rankscore=0.804;FATHMM_pred=T;PROVEAN_score=-3.42;PROVEAN_converted_rankscore=0.672;PROVEAN_pred=D;VEST3_score=0.274;VEST3_rankscore=0.523;MetaSVM_score=-0.421;MetaSVM_rankscore=0.714;MetaSVM_pred=T;MetaLR_score=0.463;MetaLR_rankscore=0.792;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.404;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.576;CADD_raw_rankscore=0.371;CADD_phred=19.95;DANN_score=0.880;DANN_rankscore=0.171;fathmm-MKL_coding_score=0.833;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.110;Eigen-PC-raw=0.242;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.317;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.11;GERP++_RS_rankscore=0.472;phyloP100way_vertebrate=2.483;phyloP100way_vertebrate_rankscore=0.446;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.759;phastCons20way_mammalian_rankscore=0.324;SiPhy_29way_logOdds=12.781;SiPhy_29way_logOdds_rankscore=0.567;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0236;AF=0.0010;AF_popmax=0.0016;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0038033;Kaviar_AC=588;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.099094;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604160 rs1883085 T G 100 PASS AC=5;AF=0.076278;AN=214;NS=2504;DP=20847;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.003;EUR_AF=0.0477;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12711C:p.L4237F,TTN:NM_001256850:exon46:c.A12849C:p.L4283F,TTN:NM_133432:exon46:c.A13086C:p.L4362F,TTN:NM_133437:exon46:c.A13287C:p.L4429F,TTN:NM_001267550:exon48:c.A13800C:p.L4600F;1000g2015aug_all=0.076278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883085;CLNALLELEID=57004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.182;SIFT_converted_rankscore=0.218;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_converted_rankscore=0.638;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_converted_rankscore=0.058;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.018;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.298;CADD_raw_rankscore=0.022;CADD_phred=0.005;DANN_score=0.622;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.223;fathmm-MKL_coding_rankscore=0.215;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.273;Eigen-PC-raw=-1.349;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.360;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-5.34;GERP++_RS_rankscore=0.025;phyloP100way_vertebrate=-0.012;phyloP100way_vertebrate_rankscore=0.125;phyloP20way_mammalian=-0.220;phyloP20way_mammalian_rankscore=0.097;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.802;SiPhy_29way_logOdds_rankscore=0.282;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0431;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0094;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2177;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0496;AF_female=0.0467;AF_raw=0.0484;AF_afr=0.0129;AF_sas=.;AF_amr=0.1969;AF_eas=0.1860;AF_nfe=0.0439;AF_fin=0.0582;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.067253;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604366 rs2562829 T G 100 PASS AC=5;AF=0.0760783;AN=214;NS=2504;DP=22457;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12505C:p.T4169P,TTN:NM_001256850:exon46:c.A12643C:p.T4215P,TTN:NM_133432:exon46:c.A12880C:p.T4294P,TTN:NM_133437:exon46:c.A13081C:p.T4361P,TTN:NM_001267550:exon48:c.A13594C:p.T4532P;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2562829;CLNALLELEID=57002;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.181;SIFT_converted_rankscore=0.219;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.24;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.232;MetaSVM_score=-1.067;MetaSVM_rankscore=0.101;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.128;REVEL_rankscore=0.356;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.781;CADD_raw_rankscore=0.041;CADD_phred=0.047;DANN_score=0.623;DANN_rankscore=0.067;fathmm-MKL_coding_score=0.247;fathmm-MKL_coding_rankscore=0.223;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.262;Eigen-PC-raw=-1.268;GenoCanyon_score=0.933;GenoCanyon_score_rankscore=0.271;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-3.84;GERP++_RS_rankscore=0.040;phyloP100way_vertebrate=0.144;phyloP100way_vertebrate_rankscore=0.158;phyloP20way_mammalian=-1.297;phyloP20way_mammalian_rankscore=0.014;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.031;phastCons20way_mammalian_rankscore=0.148;SiPhy_29way_logOdds=10.651;SiPhy_29way_logOdds_rankscore=0.446;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0435;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2177;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0466;AF_raw=0.0483;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1864;AF_nfe=0.0438;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1864;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0690547;Kaviar_AC=10676;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.400124;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604440 rs191968963 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22227;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T12431C:p.M4144T,TTN:NM_001256850:exon46:c.T12569C:p.M4190T,TTN:NM_133432:exon46:c.T12806C:p.M4269T,TTN:NM_133437:exon46:c.T13007C:p.M4336T,TTN:NM_001267550:exon48:c.T13520C:p.M4507T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191968963;CLNALLELEID=173399;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.426;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.19;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.240;PROVEAN_pred=N;VEST3_score=0.099;VEST3_rankscore=0.149;MetaSVM_score=-0.954;MetaSVM_rankscore=0.404;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_rankscore=0.383;MetaLR_pred=T;M-CAP_score=0.029;M-CAP_rankscore=0.517;M-CAP_pred=D;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.764;CADD_raw_rankscore=0.012;CADD_phred=0.002;DANN_score=0.554;DANN_rankscore=0.052;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_rankscore=0.125;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.358;Eigen-PC-raw=-1.441;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-5.39;GERP++_RS_rankscore=0.024;phyloP100way_vertebrate=-0.873;phyloP100way_vertebrate_rankscore=0.043;phyloP20way_mammalian=-0.677;phyloP20way_mammalian_rankscore=0.039;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=1.424;SiPhy_29way_logOdds_rankscore=0.022;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.203e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.247544;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604742 rs1883084 G A 100 PASS AC=5;AF=0.0766773;AN=214;NS=2504;DP=18861;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0045;EUR_AF=0.0477;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12129T:p.A4043A,TTN:NM_001256850:exon46:c.C12267T:p.A4089A,TTN:NM_133432:exon46:c.C12504T:p.A4168A,TTN:NM_133437:exon46:c.C12705T:p.A4235A,TTN:NM_001267550:exon48:c.C13218T:p.A4406A;1000g2015aug_all=0.0766773;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1883084;CLNALLELEID=57000;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0753;ExAC_nontcga_AFR=0.0114;ExAC_nontcga_AMR=0.2627;ExAC_nontcga_EAS=0.2174;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0190;AF=0.0491;AF_popmax=0.1969;AF_male=0.0507;AF_female=0.0472;AF_raw=0.0492;AF_afr=0.0157;AF_sas=.;AF_amr=0.1969;AF_eas=0.1858;AF_nfe=0.0439;AF_fin=0.0582;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1858;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0696433;Kaviar_AC=10767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.496540;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179604871 rs555324138 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19790;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12000T:p.P4000P,TTN:NM_001256850:exon46:c.C12138T:p.P4046P,TTN:NM_133432:exon46:c.C12375T:p.P4125P,TTN:NM_133437:exon46:c.C12576T:p.P4192P,TTN:NM_001267550:exon48:c.C13089T:p.P4363P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555324138;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.849e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.186491;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605180 rs746578 C A,T 100 PASS AC=5,39;AF=0.0760783,0.238818;AN=214;NS=2504;DP=20859;EAS_AF=0.1935,0.4702;AMR_AF=0.17,0.1585;AFR_AF=0.0023,0.1846;EUR_AF=0.0477,0.1382;SAS_AF=0.0174,0.2342;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691T:p.A3897A,TTN:NM_001256850:exon46:c.G11829T:p.A3943A,TTN:NM_133432:exon46:c.G12066T:p.A4022A,TTN:NM_133437:exon46:c.G12267T:p.A4089A,TTN:NM_001267550:exon48:c.G12780T:p.A4260A;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746578;CLNALLELEID=56995;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0748;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2617;ExAC_nontcga_EAS=0.2173;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0457;ExAC_nontcga_OTH=0.0525;ExAC_nontcga_SAS=0.0190;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0466;AF_raw=0.0484;AF_afr=0.0125;AF_sas=.;AF_amr=0.1969;AF_eas=0.1860;AF_nfe=0.0441;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0498;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0669526;Kaviar_AC=10351;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691A:p.A3897A,TTN:NM_001256850:exon46:c.G11829A:p.A3943A,TTN:NM_133432:exon46:c.G12066A:p.A4022A,TTN:NM_133437:exon46:c.G12267A:p.A4089A,TTN:NM_001267550:exon48:c.G12780A:p.A4260A;1000g2015aug_all=0.238818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746578;CLNALLELEID=56994;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1283;ExAC_nontcga_ALL=0.1673;ExAC_nontcga_AFR=0.1613;ExAC_nontcga_AMR=0.1413;ExAC_nontcga_EAS=0.4573;ExAC_nontcga_FIN=0.0926;ExAC_nontcga_NFE=0.1289;ExAC_nontcga_OTH=0.1327;ExAC_nontcga_SAS=0.2107;AF=0.1500;AF_popmax=0.4599;AF_male=0.1538;AF_female=0.1453;AF_raw=0.1501;AF_afr=0.1586;AF_sas=.;AF_amr=0.1557;AF_eas=0.4599;AF_nfe=0.1308;AF_fin=0.0846;AF_asj=0.0897;AF_oth=0.1319;non_topmed_AF_popmax=0.4570;non_neuro_AF_popmax=0.4599;non_cancer_AF_popmax=.;controls_AF_popmax=0.4726;Kaviar_AF=0.158594;Kaviar_AC=24519;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.136929::0.226708;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 2|0 0|2 0|0 2|0 0|0 2|0 0|0 0|0 0|0 0|0 0|1 0|0 0|2 2|0 0|2 0|0 2|0 0|0 0|0 0|2 2|0 0|0 0|2 0|0 0|0 0|0 2|0 0|0 0|0 0|2 0|0 2|0 0|0 0|0 2|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 1|2 0|0 0|0 0|2 0|2 0|0 0|2 0|0 2|0 2|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|1 0|0 2|0 0|0 0|2 0|1 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 2|2 1|0 2|2 0|0 0|0 0|0 2|0 0|0 0|0 0|0 2|2 0|2 0|0 0|0 0|0 2|0 0|0 0|0 0|0 +2 179605380 rs34618570 T A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=21703;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11491T:p.I3831F,TTN:NM_001256850:exon46:c.A11629T:p.I3877F,TTN:NM_133432:exon46:c.A11866T:p.I3956F,TTN:NM_133437:exon46:c.A12067T:p.I4023F,TTN:NM_001267550:exon48:c.A12580T:p.I4194F;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34618570;CLNALLELEID=56990;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_converted_rankscore=0.348;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_rankscore=0.161;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.154;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.611;MutationTaster_converted_rankscore=0.326;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.23;FATHMM_converted_rankscore=0.622;FATHMM_pred=T;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.370;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.155;MetaSVM_score=-1.000;MetaSVM_rankscore=0.299;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.329;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.005;CADD_raw_rankscore=0.093;CADD_phred=2.540;DANN_score=0.616;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.856;fathmm-MKL_coding_rankscore=0.444;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.829;Eigen-PC-raw=-0.773;GenoCanyon_score=0.991;GenoCanyon_score_rankscore=0.321;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.68;GERP++_RS_rankscore=0.307;phyloP100way_vertebrate=2.312;phyloP100way_vertebrate_rankscore=0.431;phyloP20way_mammalian=-0.330;phyloP20way_mammalian_rankscore=0.074;phastCons100way_vertebrate=0.812;phastCons100way_vertebrate_rankscore=0.296;phastCons20way_mammalian=0.011;phastCons20way_mammalian_rankscore=0.114;SiPhy_29way_logOdds=8.187;SiPhy_29way_logOdds_rankscore=0.303;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0043;AF=0.0054;AF_popmax=0.0046;AF_male=0.0060;AF_female=0.0045;AF_raw=0.0053;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0046;AF_fin=0.0242;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0052975;Kaviar_AC=819;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605705 rs2742357 A G 100 PASS AC=5;AF=0.0760783;AN=214;NS=2504;DP=21973;EAS_AF=0.1935;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T11166C:p.I3722I,TTN:NM_001256850:exon46:c.T11304C:p.I3768I,TTN:NM_133432:exon46:c.T11541C:p.I3847I,TTN:NM_133437:exon46:c.T11742C:p.I3914I,TTN:NM_001267550:exon48:c.T12255C:p.I4085I;1000g2015aug_all=0.0760783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2742357;CLNALLELEID=56988;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0751;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.2628;ExAC_nontcga_EAS=0.2180;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0189;AF=0.0483;AF_popmax=0.1969;AF_male=0.0497;AF_female=0.0465;AF_raw=0.0484;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1852;AF_nfe=0.0440;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0497;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1852;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0694299;Kaviar_AC=10734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605725 rs34070843 T C 100 PASS AC=9;AF=0.0161741;AN=214;NS=2504;DP=21621;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.0409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11146G:p.I3716V,TTN:NM_001256850:exon46:c.A11284G:p.I3762V,TTN:NM_133432:exon46:c.A11521G:p.I3841V,TTN:NM_133437:exon46:c.A11722G:p.I3908V,TTN:NM_001267550:exon48:c.A12235G:p.I4079V;1000g2015aug_all=0.0161741;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34070843;CLNALLELEID=56987;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_converted_rankscore=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.491;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.23;FATHMM_converted_rankscore=0.631;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.110;PROVEAN_pred=N;VEST3_score=0.069;VEST3_rankscore=0.126;MetaSVM_score=-1.022;MetaSVM_rankscore=0.230;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_rankscore=0.240;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.264;CADD_raw_rankscore=0.023;CADD_phred=0.005;DANN_score=0.503;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.138;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.165;Eigen-PC-raw=-1.201;GenoCanyon_score=0.787;GenoCanyon_score_rankscore=0.239;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-1.66;GERP++_RS_rankscore=0.078;phyloP100way_vertebrate=0.332;phyloP100way_vertebrate_rankscore=0.194;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=0.350;phastCons100way_vertebrate_rankscore=0.255;phastCons20way_mammalian=0.206;phastCons20way_mammalian_rankscore=0.219;SiPhy_29way_logOdds=5.807;SiPhy_29way_logOdds_rankscore=0.176;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0185;ExAC_nontcga_ALL=0.0180;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0182;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0417;AF=0.0102;AF_popmax=0.0170;AF_male=0.0108;AF_female=0.0095;AF_raw=0.0102;AF_afr=0.0026;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0170;AF_fin=0.0012;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0164;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605755 rs565276088 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20881;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C11116G:p.Q3706E,TTN:NM_001256850:exon46:c.C11254G:p.Q3752E,TTN:NM_133432:exon46:c.C11491G:p.Q3831E,TTN:NM_133437:exon46:c.C11692G:p.Q3898E,TTN:NM_001267550:exon48:c.C12205G:p.Q4069E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565276088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.488;SIFT_converted_rankscore=0.080;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.31;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST3_score=0.293;VEST3_rankscore=0.353;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_rankscore=0.482;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.325;M-CAP_pred=T;REVEL_score=0.065;REVEL_rankscore=0.193;MutPred_score=0.258;MutPred_rankscore=0.201;CADD_raw=0.306;CADD_raw_rankscore=0.123;CADD_phred=5.751;DANN_score=0.694;DANN_rankscore=0.087;fathmm-MKL_coding_score=0.554;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.555;Eigen-PC-raw=-0.508;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=2.793;phyloP100way_vertebrate_rankscore=0.473;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.735;phastCons100way_vertebrate_rankscore=0.287;phastCons20way_mammalian=0.932;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=14.815;SiPhy_29way_logOdds_rankscore=0.695;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179605991 rs33971253 G A 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=20670;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10880T:p.P3627L,TTN:NM_001256850:exon46:c.C11018T:p.P3673L,TTN:NM_133432:exon46:c.C11255T:p.P3752L,TTN:NM_133437:exon46:c.C11456T:p.P3819L,TTN:NM_001267550:exon48:c.C11969T:p.P3990L;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33971253;CLNALLELEID=56978;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.264;SIFT_converted_rankscore=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.338;Polyphen2_HDIV_rankscore=0.316;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_rankscore=0.395;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.98;FATHMM_converted_rankscore=0.421;FATHMM_pred=T;PROVEAN_score=-4.45;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.27;VEST3_rankscore=0.328;MetaSVM_score=-0.904;MetaSVM_rankscore=0.475;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.346;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.510;CADD_raw_rankscore=0.244;CADD_phred=13.37;DANN_score=0.711;DANN_rankscore=0.092;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.283;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.87;GERP++_RS_rankscore=0.942;phyloP100way_vertebrate=5.186;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.465;phastCons20way_mammalian_rankscore=0.265;SiPhy_29way_logOdds=15.318;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0118;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0038;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0005;AF=0.0057;AF_popmax=0.0089;AF_male=0.0062;AF_female=0.0050;AF_raw=0.0057;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.007432;Kaviar_AC=1149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.507677;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 +2 179606172 rs186624523 C T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=21161;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G10699A:p.E3567K,TTN:NM_001256850:exon46:c.G10837A:p.E3613K,TTN:NM_133432:exon46:c.G11074A:p.E3692K,TTN:NM_133437:exon46:c.G11275A:p.E3759K,TTN:NM_001267550:exon48:c.G11788A:p.E3930K;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186624523;CLNALLELEID=173267;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.308;SIFT_converted_rankscore=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-1.55;PROVEAN_converted_rankscore=0.377;PROVEAN_pred=N;VEST3_score=0.221;VEST3_rankscore=0.271;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.429;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.322;M-CAP_pred=T;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.926;CADD_raw_rankscore=0.182;CADD_phred=10.23;DANN_score=0.573;DANN_rankscore=0.056;fathmm-MKL_coding_score=0.380;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.789;Eigen-PC-raw=-0.800;GenoCanyon_score=0.984;GenoCanyon_score_rankscore=0.306;integrated_fitCons_score=0.500;integrated_fitCons_score_rankscore=0.196;integrated_confidence_value=0;GERP++_RS=3.02;GERP++_RS_rankscore=0.338;phyloP100way_vertebrate=1.845;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.070;phyloP20way_mammalian_rankscore=0.177;phastCons100way_vertebrate=0.915;phastCons100way_vertebrate_rankscore=0.316;phastCons20way_mammalian=0.428;phastCons20way_mammalian_rankscore=0.259;SiPhy_29way_logOdds=5.588;SiPhy_29way_logOdds_rankscore=0.165;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179606538 rs2627037 G A 100 PASS AC=12;AF=0.273163;AN=214;NS=2504;DP=14879;EAS_AF=0.2133;AMR_AF=0.3602;AFR_AF=0.4531;EUR_AF=0.0875;SAS_AF=0.2209;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10333T:p.P3445S,TTN:NM_001256850:exon46:c.C10471T:p.P3491S,TTN:NM_133432:exon46:c.C10708T:p.P3570S,TTN:NM_133437:exon46:c.C10909T:p.P3637S,TTN:NM_001267550:exon48:c.C11422T:p.P3808S;1000g2015aug_all=0.273163;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2627037;CLNALLELEID=56971;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.757;SIFT_converted_rankscore=0.035;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.958;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.47;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=1.53;PROVEAN_converted_rankscore=0.007;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.976;MetaSVM_rankscore=0.360;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.979;CADD_raw_rankscore=0.299;CADD_phred=16.08;DANN_score=0.947;DANN_rankscore=0.248;fathmm-MKL_coding_score=0.153;fathmm-MKL_coding_rankscore=0.186;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.438;Eigen-PC-raw=-0.159;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=4.366;phyloP100way_vertebrate_rankscore=0.590;phyloP20way_mammalian=0.202;phyloP20way_mammalian_rankscore=0.252;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.459;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=12.404;SiPhy_29way_logOdds_rankscore=0.546;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0732;ExAC_nontcga_ALL=0.1970;ExAC_nontcga_AFR=0.4370;ExAC_nontcga_AMR=0.4918;ExAC_nontcga_EAS=0.2582;ExAC_nontcga_FIN=0.1214;ExAC_nontcga_NFE=0.0859;ExAC_nontcga_OTH=0.1725;ExAC_nontcga_SAS=0.2241;AF=0.1897;AF_popmax=0.4183;AF_male=0.1943;AF_female=0.1840;AF_raw=0.1897;AF_afr=0.4183;AF_sas=.;AF_amr=0.3872;AF_eas=0.2170;AF_nfe=0.0716;AF_fin=0.1125;AF_asj=0.1069;AF_oth=0.1165;non_topmed_AF_popmax=0.4186;non_neuro_AF_popmax=0.4312;non_cancer_AF_popmax=.;controls_AF_popmax=0.4306;Kaviar_AF=0.165819;Kaviar_AC=25636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.604801;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179606590 rs72648918 T C 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=14760;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A10281G:p.Q3427Q,TTN:NM_001256850:exon46:c.A10419G:p.Q3473Q,TTN:NM_133432:exon46:c.A10656G:p.Q3552Q,TTN:NM_133437:exon46:c.A10857G:p.Q3619Q,TTN:NM_001267550:exon48:c.A11370G:p.Q3790Q;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648918;CLNALLELEID=141537;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0008;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179610967 rs72648913 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19543;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G16160A:p.C5387Y;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648913;CLNALLELEID=56959;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.039;SIFT_converted_rankscore=0.424;SIFT_pred=D;Polyphen2_HDIV_score=0.222;Polyphen2_HDIV_rankscore=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.08;Polyphen2_HVAR_rankscore=0.274;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.661;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_converted_rankscore=0.185;PROVEAN_pred=N;VEST3_score=0.329;VEST3_rankscore=0.390;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.163;MetaLR_rankscore=0.500;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.301;M-CAP_pred=T;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.745;CADD_raw_rankscore=0.271;CADD_phred=14.66;DANN_score=0.977;DANN_rankscore=0.350;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.044;Eigen-PC-raw=0.240;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.88;GERP++_RS_rankscore=0.945;phyloP100way_vertebrate=1.732;phyloP100way_vertebrate_rankscore=0.375;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.985;SiPhy_29way_logOdds_rankscore=0.798;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0029;AF_popmax=0.0043;AF_male=0.0024;AF_female=0.0035;AF_raw=0.0029;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0043;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0044;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0028266;Kaviar_AC=437;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.131287;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611279 rs572156117 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19734;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C15848T:p.P5283L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572156117;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.078;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.31;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.126;MetaSVM_score=-0.456;MetaSVM_rankscore=0.702;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_rankscore=0.709;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.233;M-CAP_pred=T;REVEL_score=0.280;REVEL_rankscore=0.602;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=1.499;CADD_raw_rankscore=0.242;CADD_phred=13.31;DANN_score=0.997;DANN_rankscore=0.805;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.774;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.587;Eigen-PC-raw=0.550;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=6.874;phyloP100way_vertebrate_rankscore=0.752;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.716;phastCons20way_mammalian_rankscore=0.313;SiPhy_29way_logOdds=14.591;SiPhy_29way_logOdds_rankscore=0.678;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.401742;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611552 rs62179016 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20489;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15575A:p.R5192K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62179016;CLNALLELEID=173275;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.945;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.399;Polyphen2_HDIV_rankscore=0.330;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.399;Polyphen2_HVAR_rankscore=0.427;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=0.43;PROVEAN_converted_rankscore=0.033;PROVEAN_pred=N;VEST3_score=0.284;VEST3_rankscore=0.343;MetaSVM_score=-0.691;MetaSVM_rankscore=0.609;MetaSVM_pred=T;MetaLR_score=0.306;MetaLR_rankscore=0.677;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.429;M-CAP_pred=T;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.711;CADD_raw_rankscore=0.267;CADD_phred=14.47;DANN_score=0.848;DANN_rankscore=0.150;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.373;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=2.774;phyloP100way_vertebrate_rankscore=0.471;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.887;phastCons20way_mammalian_rankscore=0.373;SiPhy_29way_logOdds=20.385;SiPhy_29way_logOdds_rankscore=0.989;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0036;AF_male=0.0005;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.492367;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611711 rs66677602 C A 100 PASS AC=5;AF=0.0772764;AN=214;NS=2504;DP=19447;EAS_AF=0.1994;AMR_AF=0.17;AFR_AF=0.0023;EUR_AF=0.0477;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15416T:p.R5139M;1000g2015aug_all=0.0772764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66677602;CLNALLELEID=56950;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.847;Polyphen2_HVAR_rankscore=0.587;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.55;FATHMM_converted_rankscore=0.711;FATHMM_pred=T;PROVEAN_score=1.14;PROVEAN_converted_rankscore=0.012;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.089;MetaSVM_score=-1.047;MetaSVM_rankscore=0.153;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.164;REVEL_rankscore=0.427;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.758;CADD_raw_rankscore=0.166;CADD_phred=9.203;DANN_score=0.953;DANN_rankscore=0.260;fathmm-MKL_coding_score=0.178;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.006;Eigen-PC-raw=-0.024;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.441;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.19;GERP++_RS_rankscore=0.713;phyloP100way_vertebrate=0.758;phyloP100way_vertebrate_rankscore=0.259;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=0.132;phastCons100way_vertebrate_rankscore=0.232;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=9.092;SiPhy_29way_logOdds_rankscore=0.356;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0755;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.2630;ExAC_nontcga_EAS=0.2272;ExAC_nontcga_FIN=0.0574;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0190;AF=0.0489;AF_popmax=0.1983;AF_male=0.0505;AF_female=0.0470;AF_raw=0.0489;AF_afr=0.0126;AF_sas=.;AF_amr=0.1974;AF_eas=0.1983;AF_nfe=0.0440;AF_fin=0.0579;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.2007;non_neuro_AF_popmax=0.1983;non_cancer_AF_popmax=.;controls_AF_popmax=0.2066;Kaviar_AF=0.0696757;Kaviar_AC=10772;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.067797;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611847 rs141105907 T G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=15680;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A15280C:p.R5094R;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141105907;CLNALLELEID=365885;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.063e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.288260;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611851 rs72648910 C T 100 PASS AC=1;AF=0.0399361;AN=214;NS=2504;DP=15008;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.1407;EUR_AF=0.003;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15276A:p.L5092L;1000g2015aug_all=0.0399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648910;CLNALLELEID=56946;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0774;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=6.221e-05;AF=0.0342;AF_popmax=0.1175;AF_male=0.0343;AF_female=0.0340;AF_raw=0.0290;AF_afr=0.1175;AF_sas=.;AF_amr=0.0041;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0090;non_topmed_AF_popmax=0.1176;non_neuro_AF_popmax=0.1308;non_cancer_AF_popmax=.;controls_AF_popmax=0.1245;Kaviar_AF=0.0021798;Kaviar_AC=337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.714041;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179611875 rs61233923 A G 100 PASS AC=1;AF=0.0397364;AN=214;NS=2504;DP=14705;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1407;EUR_AF=0.003;SAS_AF=0.001;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T15252C:p.Y5084Y;1000g2015aug_all=0.0397364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61233923;CLNALLELEID=56945;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0461;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0323;AF_popmax=0.1143;AF_male=0.0327;AF_female=0.0318;AF_raw=0.0272;AF_afr=0.1143;AF_sas=.;AF_amr=0.0040;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0066;non_topmed_AF_popmax=0.1141;non_neuro_AF_popmax=0.1283;non_cancer_AF_popmax=.;controls_AF_popmax=0.1226;Kaviar_AF=0.001727;Kaviar_AC=267;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.259929;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612373 rs72648908 A C 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=20169;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0256;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14754G:p.P4918P;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648908;CLNALLELEID=56940;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0233;AF=0.0014;AF_popmax=0.0035;AF_male=0.0017;AF_female=0.0010;AF_raw=0.0014;AF_afr=0.0011;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0049353;Kaviar_AC=763;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.505474;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612383 rs72648907 C T 100 PASS AC=17;AF=0.0145767;AN=214;NS=2504;DP=20289;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0023;EUR_AF=0.0517;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14744A:p.R4915H;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648907;CLNALLELEID=56939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.422;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_converted_rankscore=0.544;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_converted_rankscore=0.085;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.000;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.021;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.322;CADD_raw_rankscore=0.223;CADD_phred=12.38;DANN_score=0.625;DANN_rankscore=0.068;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.004;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.189;Eigen-PC-raw=-1.071;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.338;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=1.169;phyloP100way_vertebrate_rankscore=0.313;phyloP20way_mammalian=-0.239;phyloP20way_mammalian_rankscore=0.092;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.011;phastCons20way_mammalian_rankscore=0.114;SiPhy_29way_logOdds=6.346;SiPhy_29way_logOdds_rankscore=0.204;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0582;ExAC_nontcga_ALL=0.0342;ExAC_nontcga_AFR=0.0112;ExAC_nontcga_AMR=0.0165;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0352;ExAC_nontcga_NFE=0.0562;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0020;AF=0.0345;AF_popmax=0.0498;AF_male=0.0330;AF_female=0.0362;AF_raw=0.0345;AF_afr=0.0108;AF_sas=.;AF_amr=0.0308;AF_eas=0;AF_nfe=0.0498;AF_fin=0.0409;AF_asj=0.0207;AF_oth=0.0415;non_topmed_AF_popmax=0.0474;non_neuro_AF_popmax=0.0492;non_cancer_AF_popmax=.;controls_AF_popmax=0.0406;Kaviar_AF=0.0379943;Kaviar_AC=5874;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.567117;ALLELE_END;VINYL_score=2.5 GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 179612511 rs148105798 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=22972;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C14616T:p.S4872S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148105798;CLNALLELEID=199634;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=7.189e-05;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003363;Kaviar_AC=52;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612635 rs150615457 C T 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20091;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14492A:p.C4831Y;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150615457;CLNALLELEID=56937;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.164;SIFT_converted_rankscore=0.233;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.49;FATHMM_converted_rankscore=0.558;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.085;VEST3_rankscore=0.080;MetaSVM_score=-1.040;MetaSVM_rankscore=0.174;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_rankscore=0.237;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.214;CADD_raw_rankscore=0.114;CADD_phred=4.824;DANN_score=0.470;DANN_rankscore=0.038;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_rankscore=0.120;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.202;Eigen-PC-raw=-1.164;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=-0.046;GERP++_RS_rankscore=0.131;phyloP100way_vertebrate=0.703;phyloP100way_vertebrate_rankscore=0.251;phyloP20way_mammalian=-0.506;phyloP20way_mammalian_rankscore=0.051;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=4.639;SiPhy_29way_logOdds_rankscore=0.118;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0235;AF=0.0011;AF_popmax=0.0018;AF_male=0.0010;AF_female=0.0012;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.004075;Kaviar_AC=630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001041498|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179612883 rs139669372 A G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=20379;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0159;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14244C:p.L4748L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139669372;CLNALLELEID=56933;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0072;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0076;AF_popmax=0.0108;AF_male=0.0076;AF_female=0.0077;AF_raw=0.0076;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0098;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179613049 rs139486133 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14078C:p.I4693T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139486133;CLNALLELEID=173282;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.273;SIFT_converted_rankscore=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.17;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-1.055;MetaSVM_rankscore=0.131;MetaSVM_pred=T;MetaLR_score=0.068;MetaLR_rankscore=0.281;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.182;M-CAP_pred=T;REVEL_score=0.053;REVEL_rankscore=0.154;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.341;CADD_raw_rankscore=0.127;CADD_phred=6.086;DANN_score=0.842;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.165;Eigen-PC-raw=-1.174;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.326;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-1.73;GERP++_RS_rankscore=0.076;phyloP100way_vertebrate=-0.027;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=1.006;phyloP20way_mammalian_rankscore=0.624;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.083;phastCons20way_mammalian_rankscore=0.182;SiPhy_29way_logOdds=1.357;SiPhy_29way_logOdds_rankscore=0.020;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_V-set_domain|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=9.038e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0005239;Kaviar_AC=81;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +2 179613191 rs140909116 T C 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=18209;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13936G:p.K4646E;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140909116;CLNALLELEID=56928;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.261;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_converted_rankscore=0.656;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.312;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.193;MetaSVM_score=-1.008;MetaSVM_rankscore=0.277;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.362;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.041;CADD_raw_rankscore=0.098;CADD_phred=2.993;DANN_score=0.553;DANN_rankscore=0.052;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_rankscore=0.125;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.214;Eigen-PC-raw=-1.262;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.52;GERP++_RS_rankscore=0.059;phyloP100way_vertebrate=-0.106;phyloP100way_vertebrate_rankscore=0.108;phyloP20way_mammalian=-0.303;phyloP20way_mammalian_rankscore=0.080;phastCons100way_vertebrate=0.036;phastCons100way_vertebrate_rankscore=0.206;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=6.312;SiPhy_29way_logOdds_rankscore=0.202;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0093;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0111;AF=0.0045;AF_popmax=0.0107;AF_male=0.0042;AF_female=0.0049;AF_raw=0.0045;AF_afr=0.0006;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0068;AF_fin=0.0012;AF_asj=0.0379;AF_oth=0.0064;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0076196;Kaviar_AC=1178;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +2 179613651 rs72648904 G A 100 PASS AC=7;AF=0.0109824;AN=214;NS=2504;DP=19218;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.0133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13476T:p.D4492D;1000g2015aug_all=0.0109824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648904;CLNALLELEID=56920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0356;ExAC_nontcga_ALL=0.0204;ExAC_nontcga_AFR=0.0056;ExAC_nontcga_AMR=0.0158;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0311;ExAC_nontcga_NFE=0.0285;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0105;AF=0.0211;AF_popmax=0.0299;AF_male=0.0213;AF_female=0.0207;AF_raw=0.0211;AF_afr=0.0069;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0299;AF_fin=0.0328;AF_asj=0.0103;AF_oth=0.0129;non_topmed_AF_popmax=0.0262;non_neuro_AF_popmax=0.0302;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0222248;Kaviar_AC=3436;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179613763 rs142304137 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18561;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13364G:p.K4455R;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142304137;CLNALLELEID=56917;CLNDN=Syncope|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.873;Polyphen2_HDIV_rankscore=0.460;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.439;Polyphen2_HVAR_rankscore=0.439;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.29;FATHMM_converted_rankscore=0.589;FATHMM_pred=T;PROVEAN_score=-1.06;PROVEAN_converted_rankscore=0.277;PROVEAN_pred=N;VEST3_score=0.172;VEST3_rankscore=0.208;MetaSVM_score=-0.989;MetaSVM_rankscore=0.329;MetaSVM_pred=T;MetaLR_score=0.127;MetaLR_rankscore=0.434;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.269;M-CAP_pred=T;REVEL_score=0.117;REVEL_rankscore=0.332;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.715;CADD_raw_rankscore=0.162;CADD_phred=8.924;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.708;fathmm-MKL_coding_rankscore=0.345;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=-0.000;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=0.379;phyloP100way_vertebrate_rankscore=0.202;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.059;phastCons100way_vertebrate_rankscore=0.215;phastCons20way_mammalian=0.890;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=11.198;SiPhy_29way_logOdds_rankscore=0.478;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=7.201e-05;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179614952 rs10803917 A G 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=21691;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T12175C:p.L4059L;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10803917;CLNALLELEID=56907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9928;ExAC_nontcga_AFR=0.9218;ExAC_nontcga_AMR=0.9969;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9762;AF_popmax=1;AF_male=0.9764;AF_female=0.9759;AF_raw=0.9761;AF_afr=0.9152;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.979502;Kaviar_AC=151433;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615318 rs562658562 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11809C:p.K3937Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562658562;CLNALLELEID=173431;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.354;SIFT_converted_rankscore=0.121;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.27;FATHMM_converted_rankscore=0.592;FATHMM_pred=T;PROVEAN_score=-0.55;PROVEAN_converted_rankscore=0.168;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.021;MetaSVM_score=-1.010;MetaSVM_rankscore=0.270;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_rankscore=0.398;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.307;M-CAP_pred=T;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.356;CADD_raw_rankscore=0.128;CADD_phred=6.220;DANN_score=0.889;DANN_rankscore=0.177;fathmm-MKL_coding_score=0.135;fathmm-MKL_coding_rankscore=0.177;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.851;Eigen-PC-raw=-0.814;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=1.150;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.003;phastCons100way_vertebrate_rankscore=0.159;phastCons20way_mammalian=0.008;phastCons20way_mammalian_rankscore=0.104;SiPhy_29way_logOdds=6.816;SiPhy_29way_logOdds_rankscore=0.229;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179615321 rs147087155 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C11806A:p.R3936R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147087155;CLNALLELEID=366162;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=6.386e-05;AF_popmax=0.0001;AF_male=5.737e-05;AF_female=7.199e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.055e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179615887 rs922984 T C 100 PASS AC=202;AF=0.733027;AN=214;NS=2504;DP=20549;EAS_AF=0.7758;AMR_AF=0.6412;AFR_AF=0.5749;EUR_AF=0.9135;SAS_AF=0.7822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11240G:p.D3747G;1000g2015aug_all=0.733027;GWAS=rs922984|PR-interval|1.5|2E-11|PMID:30046033;ORegAnno_REGULATORY_P=rs922984|PR-interval|1.5|2E-11|PMID:30046033;avsnp150=rs922984;CLNALLELEID=56900;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.197;SIFT_converted_rankscore=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.36;FATHMM_converted_rankscore=0.579;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.012;VEST3_rankscore=0.001;MetaSVM_score=-0.941;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.106;REVEL_rankscore=0.306;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.654;CADD_raw_rankscore=0.156;CADD_phred=8.526;DANN_score=0.992;DANN_rankscore=0.561;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_rankscore=0.182;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.652;Eigen-PC-raw=-0.507;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.54;GERP++_RS_rankscore=0.551;phyloP100way_vertebrate=1.572;phyloP100way_vertebrate_rankscore=0.358;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.011;phastCons100way_vertebrate_rankscore=0.184;phastCons20way_mammalian=0.091;phastCons20way_mammalian_rankscore=0.185;SiPhy_29way_logOdds=5.885;SiPhy_29way_logOdds_rankscore=0.180;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9303;ExAC_nontcga_ALL=0.8194;ExAC_nontcga_AFR=0.6006;ExAC_nontcga_AMR=0.5331;ExAC_nontcga_EAS=0.7486;ExAC_nontcga_FIN=0.8854;ExAC_nontcga_NFE=0.9248;ExAC_nontcga_OTH=0.8439;ExAC_nontcga_SAS=0.7900;AF=0.8174;AF_popmax=0.9310;AF_male=0.8136;AF_female=0.8223;AF_raw=0.8170;AF_afr=0.6042;AF_sas=.;AF_amr=0.6149;AF_eas=0.7717;AF_nfe=0.9310;AF_fin=0.8891;AF_asj=0.9;AF_oth=0.8849;non_topmed_AF_popmax=0.9315;non_neuro_AF_popmax=0.9300;non_cancer_AF_popmax=.;controls_AF_popmax=0.9313;Kaviar_AF=0.828586;Kaviar_AC=128101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615931 rs922985 C G 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=20686;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G11196C:p.L3732F;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs922985;CLNALLELEID=56899;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.103;SIFT_converted_rankscore=0.301;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.201;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_converted_rankscore=0.088;PROVEAN_pred=N;VEST3_score=0.008;VEST3_rankscore=0.000;MetaSVM_score=-0.973;MetaSVM_rankscore=0.365;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.136;REVEL_rankscore=0.373;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.163;CADD_raw_rankscore=0.109;CADD_phred=4.287;DANN_score=0.961;DANN_rankscore=0.280;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_rankscore=0.146;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.628;Eigen-PC-raw=-0.536;GenoCanyon_score=0.969;GenoCanyon_score_rankscore=0.291;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.9;GERP++_RS_rankscore=0.441;phyloP100way_vertebrate=-0.174;phyloP100way_vertebrate_rankscore=0.097;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.322;phastCons20way_mammalian_rankscore=0.241;SiPhy_29way_logOdds=5.488;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9928;ExAC_nontcga_AFR=0.9213;ExAC_nontcga_AMR=0.9970;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9765;AF_popmax=1;AF_male=0.9766;AF_female=0.9763;AF_raw=0.9762;AF_afr=0.9162;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971107;Kaviar_AC=150135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179615994 rs922986 T C 100 PASS AC=214;AF=0.97504;AN=214;NS=2504;DP=20805;EAS_AF=1;AMR_AF=0.9971;AFR_AF=0.907;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11133G:p.T3711T;1000g2015aug_all=0.97504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs922986;CLNALLELEID=56897;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9927;ExAC_nontcga_AFR=0.9216;ExAC_nontcga_AMR=0.9969;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9997;AF=0.9763;AF_popmax=1;AF_male=0.9764;AF_female=0.9761;AF_raw=0.9761;AF_afr=0.9156;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.979276;Kaviar_AC=151398;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179616210 rs140804168 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19668;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C10917T:p.G3639G;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140804168;CLNALLELEID=56894;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0059;AF_male=0.0015;AF_female=0.0009;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.129566;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179616481 rs148115514 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18200;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G10646A:p.R3549H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148115514;CLNALLELEID=189730;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.03;SIFT_converted_rankscore=0.453;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.983;Polyphen2_HVAR_rankscore=0.742;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.949;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.68;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=-0.48;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.198;VEST3_rankscore=0.243;MetaSVM_score=-0.557;MetaSVM_rankscore=0.665;MetaSVM_pred=T;MetaLR_score=0.262;MetaLR_rankscore=0.633;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.324;CADD_raw_rankscore=0.223;CADD_phred=12.39;DANN_score=0.994;DANN_rankscore=0.630;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.682;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.441;Eigen-PC-raw=0.415;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.99;GERP++_RS_rankscore=0.658;phyloP100way_vertebrate=5.006;phyloP100way_vertebrate_rankscore=0.635;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=14.928;SiPhy_29way_logOdds_rankscore=0.704;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.623886;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179616770 rs573226765;rs577374633;rs568449108;rs566021659 GAAA GAAAA,GAA,GA,G 100 PASS AC=1,109,27,1;AF=0.0109824,0.526158,0.120008,0.00179712;AN=214;NS=2504;DP=18866;EAS_AF=0,0.5823,0.122,0.001;AMR_AF=0.0101,0.4942,0.1196,0.0029;AFR_AF=0.031,0.5295,0.0817,0;EUR_AF=0.003,0.5258,0.1372,0.001;SAS_AF=0.0041,0.4867,0.1524,0.0051;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566021659;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0.0014;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0032;ExAC_nontcga_SAS=0.0029;AF=0.0001;AF_popmax=0.0002;AF_male=7.293e-05;AF_female=0.0002;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0.0007;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0003;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 2|2 0|2 3|2 0|2 2|0 2|0 2|2 2|2 2|2 0|0 2|0 0|2 2|3 3|2 0|2 0|0 2|2 3|0 0|2 2|2 2|3 2|0 2|2 3|0 3|2 2|0 2|0 2|0 2|2 2|0 0|2 3|2 3|0 2|2 0|2 3|2 2|2 2|0 0|2 2|2 0|2 0|2 0|1 2|0 2|2 3|2 2|0 4|3 0|0 3|0 2|3 0|2 0|2 2|0 2|0 0|2 2|0 0|2 2|2 0|2 2|0 2|0 2|0 2|2 2|0 2|0 2|0 2|3 0|2 2|0 0|2 0|2 2|0 2|0 2|2 0|3 2|2 2|3 0|2 0|2 3|0 2|0 2|0 2|0 2|0 3|2 0|2 2|0 2|0 2|0 3|2 3|2 3|2 0|3 2|0 2|3 2|0 2|0 0|2 3|2 0|2 0|2 2|0 2|0 3|0 3|2 0|0 +2 179618019 rs3754953 T A 100 PASS AC=202;AF=0.804513;AN=214;NS=2504;DP=17399;EAS_AF=0.7758;AMR_AF=0.67;AFR_AF=0.8298;EUR_AF=0.9145;SAS_AF=0.7822;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.804513;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3754953;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8819;AF_popmax=0.9320;AF_male=0.8811;AF_female=0.8829;AF_raw=0.8817;AF_afr=0.8309;AF_sas=.;AF_amr=0.6348;AF_eas=0.7690;AF_nfe=0.9320;AF_fin=0.8888;AF_asj=0.9172;AF_oth=0.9015;non_topmed_AF_popmax=0.9322;non_neuro_AF_popmax=0.9312;non_cancer_AF_popmax=.;controls_AF_popmax=0.9319;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269466|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179620951 rs7585334 C T 100 PASS AC=202;AF=0.804513;AN=214;NS=2504;DP=23003;EAS_AF=0.7758;AMR_AF=0.67;AFR_AF=0.8298;EUR_AF=0.9145;SAS_AF=0.7822;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D;1000g2015aug_all=0.804513;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7585334;CLNALLELEID=57016;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.551;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.094;VEST3_rankscore=0.112;MetaSVM_score=-1.021;MetaSVM_rankscore=0.234;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.252;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.907;DANN_rankscore=0.193;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.720;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.345;Eigen-PC-raw=0.350;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=3.781;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.525;phastCons20way_mammalian_rankscore=0.275;SiPhy_29way_logOdds=13.065;SiPhy_29way_logOdds_rankscore=0.583;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0021;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9321;ExAC_nontcga_ALL=0.8430;ExAC_nontcga_AFR=0.8390;ExAC_nontcga_AMR=0.5461;ExAC_nontcga_EAS=0.7486;ExAC_nontcga_FIN=0.8849;ExAC_nontcga_NFE=0.9269;ExAC_nontcga_OTH=0.8544;ExAC_nontcga_SAS=0.7964;AF=0.8822;AF_popmax=0.9322;AF_male=0.8815;AF_female=0.8830;AF_raw=0.8818;AF_afr=0.8313;AF_sas=.;AF_amr=0.6374;AF_eas=0.7706;AF_nfe=0.9322;AF_fin=0.8881;AF_asj=0.9172;AF_oth=0.9015;non_topmed_AF_popmax=0.9325;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9324;Kaviar_AF=0.845047;Kaviar_AC=130646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.122867;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179621184 rs72955212 G A 100 PASS AC=5;AF=0.00519169;AN=214;NS=2504;DP=21646;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0229;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.C10506T:p.C3502C,TTN:NM_001267550:exon46:c.C11019T:p.C3673C;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72955212;CLNALLELEID=57014;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0146;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0264;ExAC_nontcga_NFE=0.0172;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0012;AF=0.0120;AF_popmax=0.0156;AF_male=0.0108;AF_female=0.0136;AF_raw=0.0120;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0156;AF_fin=0.0265;AF_asj=0.0103;AF_oth=0.0119;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0152;non_cancer_AF_popmax=.;controls_AF_popmax=0.0156;Kaviar_AF=0.0113323;Kaviar_AC=1752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179621477 rs6433728 C T 100 PASS AC=214;AF=0.999002;AN=214;NS=2504;DP=23698;EAS_AF=1;AMR_AF=1;AFR_AF=0.9962;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T;1000g2015aug_all=0.999002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6433728;CLNALLELEID=141535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9997;ExAC_nontcga_AFR=0.9962;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9993;AF_popmax=1;AF_male=0.9992;AF_female=0.9994;AF_raw=0.9993;AF_afr=0.9974;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.937963;Kaviar_AC=145011;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.475236;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179621503 rs72955213 C T 100 PASS AC=6;AF=0.00638978;AN=214;NS=2504;DP=23359;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0268;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10187A:p.S3396N,TTN:NM_001267550:exon46:c.G10700A:p.S3567N;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72955213;CLNALLELEID=57010;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.455;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.06;FATHMM_converted_rankscore=0.618;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.016;VEST3_rankscore=0.013;MetaSVM_score=-1.001;MetaSVM_rankscore=0.296;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.260;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.075;REVEL_rankscore=0.224;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.386;CADD_raw_rankscore=0.348;CADD_phred=18.73;DANN_score=0.908;DANN_rankscore=0.194;fathmm-MKL_coding_score=0.829;fathmm-MKL_coding_rankscore=0.418;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.196;Eigen-PC-raw=-0.058;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.349;phyloP100way_vertebrate_rankscore=0.334;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=11.159;SiPhy_29way_logOdds_rankscore=0.475;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0176;ExAC_nontcga_ALL=0.0140;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0284;ExAC_nontcga_NFE=0.0209;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0036;AF=0.0141;AF_popmax=0.0185;AF_male=0.0133;AF_female=0.0151;AF_raw=0.0141;AF_afr=0.0034;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0276;AF_asj=0.0138;AF_oth=0.0165;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0182;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0140166;Kaviar_AC=2167;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.079130;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179623758 rs2291310 C T 100 PASS AC=202;AF=0.808906;AN=214;NS=2504;DP=22109;EAS_AF=0.7847;AMR_AF=0.67;AFR_AF=0.8389;EUR_AF=0.9145;SAS_AF=0.7832;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N;1000g2015aug_all=0.808906;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291310;CLNALLELEID=55747;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.634;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.3;FATHMM_converted_rankscore=0.679;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_converted_rankscore=0.039;PROVEAN_pred=N;VEST3_score=0.014;VEST3_rankscore=0.024;MetaSVM_score=-0.979;MetaSVM_rankscore=0.352;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.105;REVEL_rankscore=0.304;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.814;CADD_raw_rankscore=0.279;CADD_phred=15.07;DANN_score=0.778;DANN_rankscore=0.116;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_rankscore=0.142;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.889;Eigen-PC-raw=-0.929;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.384;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-3.23;GERP++_RS_rankscore=0.048;phyloP100way_vertebrate=0.424;phyloP100way_vertebrate_rankscore=0.209;phyloP20way_mammalian=-0.489;phyloP20way_mammalian_rankscore=0.052;phastCons100way_vertebrate=0.049;phastCons100way_vertebrate_rankscore=0.212;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=7.485;SiPhy_29way_logOdds_rankscore=0.264;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9324;ExAC_nontcga_ALL=0.8434;ExAC_nontcga_AFR=0.8469;ExAC_nontcga_AMR=0.5468;ExAC_nontcga_EAS=0.7595;ExAC_nontcga_FIN=0.8853;ExAC_nontcga_NFE=0.9270;ExAC_nontcga_OTH=0.8530;ExAC_nontcga_SAS=0.7901;AF=0.8854;AF_popmax=0.9321;AF_male=0.8845;AF_female=0.8866;AF_raw=0.8852;AF_afr=0.8409;AF_sas=.;AF_amr=0.6371;AF_eas=0.7815;AF_nfe=0.9321;AF_fin=0.8890;AF_asj=0.9172;AF_oth=0.9017;non_topmed_AF_popmax=0.9325;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9322;Kaviar_AF=0.852447;Kaviar_AC=131790;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.908843;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179623772 rs45447891 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=21609;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.C10104T:p.Y3368Y,TTN:NM_133432:exon43:c.C10104T:p.Y3368Y,TTN:NM_133437:exon43:c.C10104T:p.Y3368Y,TTN:NM_001256850:exon44:c.C10242T:p.Y3414Y,TTN:NM_001267550:exon44:c.C10242T:p.Y3414Y,TTN:NM_133378:exon44:c.C10242T:p.Y3414Y,TTN:NM_133379:exon44:c.C10242T:p.Y3414Y;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45447891;CLNALLELEID=55746;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0021;AF=0.0047;AF_popmax=0.0071;AF_male=0.0047;AF_female=0.0047;AF_raw=0.0047;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0055;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0068;non_cancer_AF_popmax=.;controls_AF_popmax=0.0051;Kaviar_AF=0.0054398;Kaviar_AC=841;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.267224;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +2 179623939 rs6705594 T C 100 PASS AC=214;AF=0.998403;AN=214;NS=2504;DP=21349;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.9962;EUR_AF=1;SAS_AF=0.998;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6705594;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9996;ExAC_nontcga_AFR=0.9962;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9996;AF=0.9991;AF_popmax=1;AF_male=0.9992;AF_female=0.9990;AF_raw=0.9991;AF_afr=0.9969;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=0.9997;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.934619;Kaviar_AC=144494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179628918 rs34819099 C T 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=18195;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon42:c.G9962A:p.R3321Q,TTN:NM_133432:exon42:c.G9962A:p.R3321Q,TTN:NM_133437:exon42:c.G9962A:p.R3321Q,TTN:NM_001256850:exon43:c.G10100A:p.R3367Q,TTN:NM_001267550:exon43:c.G10100A:p.R3367Q,TTN:NM_133378:exon43:c.G10100A:p.R3367Q,TTN:NM_133379:exon43:c.G10100A:p.R3367Q;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34819099;CLNALLELEID=55743;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.305;SIFT_converted_rankscore=0.152;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.235;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.2;FATHMM_converted_rankscore=0.661;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.294;MetaSVM_score=-0.990;MetaSVM_rankscore=0.326;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_rankscore=0.312;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.051;REVEL_rankscore=0.147;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.746;CADD_raw_rankscore=0.507;CADD_phred=23.3;DANN_score=0.979;DANN_rankscore=0.361;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_rankscore=0.376;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.373;Eigen-PC-raw=-0.253;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.392;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=1.32;GERP++_RS_rankscore=0.208;phyloP100way_vertebrate=0.765;phyloP100way_vertebrate_rankscore=0.260;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=6.065;SiPhy_29way_logOdds_rankscore=0.190;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0164;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0051;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0064;AF=0.0094;AF_popmax=0.0152;AF_male=0.0099;AF_female=0.0088;AF_raw=0.0094;AF_afr=0.0032;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0152;AF_fin=0.0026;AF_asj=0.0172;AF_oth=0.0074;non_topmed_AF_popmax=0.0133;non_neuro_AF_popmax=0.0154;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0103944;Kaviar_AC=1607;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.820478;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179629363 rs4894043 T C 100 PASS AC=214;AF=0.973642;AN=214;NS=2504;DP=18514;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.9032;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E;1000g2015aug_all=0.973642;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894043;CLNALLELEID=56871;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9992;ExAC_nontcga_ALL=0.9923;ExAC_nontcga_AFR=0.9158;ExAC_nontcga_AMR=0.9968;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9998;AF=0.9747;AF_popmax=1;AF_male=0.9745;AF_female=0.9749;AF_raw=0.9747;AF_afr=0.9097;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.971275;Kaviar_AC=150161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.496194;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179629461 rs2291311 C T 100 PASS AC=202;AF=0.804912;AN=214;NS=2504;DP=17831;EAS_AF=0.7847;AMR_AF=0.6671;AFR_AF=0.8253;EUR_AF=0.9145;SAS_AF=0.7832;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M;1000g2015aug_all=0.804912;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291311;CLNALLELEID=56856;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.158;SIFT_converted_rankscore=0.298;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.721;Polyphen2_HVAR_rankscore=0.601;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.395;MetaSVM_score=-1.065;MetaSVM_rankscore=0.106;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.235;REVEL_rankscore=0.542;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.855;CADD_raw_rankscore=0.404;CADD_phred=21.6;DANN_score=0.893;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.735;fathmm-MKL_coding_rankscore=0.357;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.163;Eigen-PC-raw=0.153;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.82;GERP++_RS_rankscore=0.615;phyloP100way_vertebrate=1.488;phyloP100way_vertebrate_rankscore=0.349;phyloP20way_mammalian=0.068;phyloP20way_mammalian_rankscore=0.175;phastCons100way_vertebrate=0.787;phastCons100way_vertebrate_rankscore=0.293;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=11.614;SiPhy_29way_logOdds_rankscore=0.502;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9322;ExAC_nontcga_ALL=0.8422;ExAC_nontcga_AFR=0.8323;ExAC_nontcga_AMR=0.5471;ExAC_nontcga_EAS=0.7601;ExAC_nontcga_FIN=0.8854;ExAC_nontcga_NFE=0.9268;ExAC_nontcga_OTH=0.8530;ExAC_nontcga_SAS=0.7901;AF=0.8817;AF_popmax=0.9322;AF_male=0.8804;AF_female=0.8835;AF_raw=0.8811;AF_afr=0.8272;AF_sas=.;AF_amr=0.6386;AF_eas=0.7808;AF_nfe=0.9322;AF_fin=0.8892;AF_asj=0.9172;AF_oth=0.9017;non_topmed_AF_popmax=0.9327;non_neuro_AF_popmax=0.9314;non_cancer_AF_popmax=.;controls_AF_popmax=0.9322;Kaviar_AF=0.850164;Kaviar_AC=131437;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.484036;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179631091 rs377693857 A T 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19276;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377693857;CLNALLELEID=199677;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631214 rs2291312 T C 100 PASS AC=11;AF=0.167732;AN=214;NS=2504;DP=19941;EAS_AF=0.2143;AMR_AF=0.3271;AFR_AF=0.0772;EUR_AF=0.0845;SAS_AF=0.2147;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon40:c.A9459G:p.E3153E,TTN:NM_133432:exon40:c.A9459G:p.E3153E,TTN:NM_133437:exon40:c.A9459G:p.E3153E,TTN:NM_001256850:exon41:c.A9597G:p.E3199E,TTN:NM_001267550:exon41:c.A9597G:p.E3199E,TTN:NM_133378:exon41:c.A9597G:p.E3199E,TTN:NM_133379:exon41:c.A9597G:p.E3199E;1000g2015aug_all=0.167732;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291312;CLNALLELEID=56825;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0667;ExAC_nontcga_ALL=0.1498;ExAC_nontcga_AFR=0.0834;ExAC_nontcga_AMR=0.4505;ExAC_nontcga_EAS=0.2410;ExAC_nontcga_FIN=0.1146;ExAC_nontcga_NFE=0.0724;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.2091;AF=0.0933;AF_popmax=0.3585;AF_male=0.0942;AF_female=0.0921;AF_raw=0.0933;AF_afr=0.0837;AF_sas=.;AF_amr=0.3585;AF_eas=0.2175;AF_nfe=0.0677;AF_fin=0.1108;AF_asj=0.0828;AF_oth=0.0956;non_topmed_AF_popmax=0.3654;non_neuro_AF_popmax=0.3357;non_cancer_AF_popmax=.;controls_AF_popmax=0.3618;Kaviar_AF=0.135445;Kaviar_AC=20940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.779455;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631357 rs201990196 TA T 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=25264;EAS_AF=0;AMR_AF=0;AFR_AF=0.0068;EUR_AF=0.001;SAS_AF=0;AA=?|AAAAAAA|AAAAAA|unsure;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201990196;CLNALLELEID=199679;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0075;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0013;AF=0.0020;AF_popmax=0.0068;AF_male=0.0018;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0068;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0067;non_neuro_AF_popmax=0.0063;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631362 rs566665016;rs3816782 A C 100 PASS AC=15;AF=0.145367;AN=214;NS=2504;DP=19666;EAS_AF=0.1954;AMR_AF=0.245;AFR_AF=0.1611;EUR_AF=0.0765;SAS_AF=0.0726;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.145367;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816782;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1195;ExAC_nontcga_AFR=0.1650;ExAC_nontcga_AMR=0.3256;ExAC_nontcga_EAS=0.2196;ExAC_nontcga_FIN=0.0729;ExAC_nontcga_NFE=0.0757;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.0753;AF=0.1102;AF_popmax=0.2756;AF_male=0.1116;AF_female=0.1085;AF_raw=0.1100;AF_afr=0.1594;AF_sas=.;AF_amr=0.2756;AF_eas=0.1985;AF_nfe=0.0745;AF_fin=0.0746;AF_asj=0.1103;AF_oth=0.0860;non_topmed_AF_popmax=0.2788;non_neuro_AF_popmax=0.2444;non_cancer_AF_popmax=.;controls_AF_popmax=0.2647;Kaviar_AF=0.0175548;Kaviar_AC=2714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179631364 rs140501763 AC A 100 PASS AC=4;AF=0.0846645;AN=214;NS=2504;DP=19659;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0681;EUR_AF=0.0368;SAS_AF=0.1728;AA=|||unknown(STR3?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0846645;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140501763;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0223;ExAC_nontcga_ALL=0.0706;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0226;ExAC_nontcga_FIN=0.0577;ExAC_nontcga_NFE=0.0268;ExAC_nontcga_OTH=0.0826;ExAC_nontcga_SAS=0.1635;AF=0.0428;AF_popmax=0.1616;AF_male=0.0425;AF_female=0.0431;AF_raw=0.0430;AF_afr=0.0642;AF_sas=.;AF_amr=0.1616;AF_eas=0.0282;AF_nfe=0.0236;AF_fin=0.0525;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1679;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632496 rs4893853 T C 100 PASS AC=5;AF=0.0860623;AN=214;NS=2504;DP=21137;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0749;EUR_AF=0.0348;SAS_AF=0.1728;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.A9323G:p.K3108R,TTN:NM_133432:exon39:c.A9323G:p.K3108R,TTN:NM_133437:exon39:c.A9323G:p.K3108R,TTN:NM_001256850:exon40:c.A9461G:p.K3154R,TTN:NM_001267550:exon40:c.A9461G:p.K3154R,TTN:NM_133378:exon40:c.A9461G:p.K3154R,TTN:NM_133379:exon40:c.A9461G:p.K3154R;1000g2015aug_all=0.0860623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4893853;CLNALLELEID=56812;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.44;SIFT_converted_rankscore=0.150;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.188;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.195;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.301;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.34;FATHMM_converted_rankscore=0.685;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.406;PROVEAN_pred=N;VEST3_score=0.045;VEST3_rankscore=0.088;MetaSVM_score=-1.005;MetaSVM_rankscore=0.285;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.376;CADD_raw_rankscore=0.229;CADD_phred=12.66;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.884;fathmm-MKL_coding_rankscore=0.481;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.319;Eigen-PC-raw=-0.175;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=2.14;GERP++_RS_rankscore=0.264;phyloP100way_vertebrate=1.860;phyloP100way_vertebrate_rankscore=0.388;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.138;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0212;ExAC_nontcga_ALL=0.0706;ExAC_nontcga_AFR=0.0742;ExAC_nontcga_AMR=0.1890;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0572;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.1672;AF=0.0438;AF_popmax=0.1616;AF_male=0.0432;AF_female=0.0446;AF_raw=0.0439;AF_afr=0.0705;AF_sas=.;AF_amr=0.1616;AF_eas=0.0282;AF_nfe=0.0221;AF_fin=0.0526;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1679;non_neuro_AF_popmax=0.1643;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.062179;Kaviar_AC=9613;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.311493;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632598 rs72647894 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20056;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.G9221A:p.R3074Q,TTN:NM_133432:exon39:c.G9221A:p.R3074Q,TTN:NM_133437:exon39:c.G9221A:p.R3074Q,TTN:NM_001256850:exon40:c.G9359A:p.R3120Q,TTN:NM_001267550:exon40:c.G9359A:p.R3120Q,TTN:NM_133378:exon40:c.G9359A:p.R3120Q,TTN:NM_133379:exon40:c.G9359A:p.R3120Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647894;CLNALLELEID=56800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.231;SIFT_converted_rankscore=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.652;Polyphen2_HVAR_rankscore=0.551;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.787;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.15;FATHMM_converted_rankscore=0.652;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_converted_rankscore=0.671;PROVEAN_pred=N;VEST3_score=0.312;VEST3_rankscore=0.810;MetaSVM_score=-0.712;MetaSVM_rankscore=0.599;MetaSVM_pred=T;MetaLR_score=0.271;MetaLR_rankscore=0.643;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.072;CADD_raw_rankscore=0.547;CADD_phred=23.7;DANN_score=0.991;DANN_rankscore=0.530;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.518;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.513;Eigen-PC-raw=0.557;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.9;GERP++_RS_rankscore=0.949;phyloP100way_vertebrate=2.946;phyloP100way_vertebrate_rankscore=0.485;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.991;phastCons100way_vertebrate_rankscore=0.370;phastCons20way_mammalian=0.931;phastCons20way_mammalian_rankscore=0.405;SiPhy_29way_logOdds=11.209;SiPhy_29way_logOdds_rankscore=0.478;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0117;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0041;AF=0.0061;AF_popmax=0.0108;AF_male=0.0052;AF_female=0.0071;AF_raw=0.0061;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0137;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0201;Kaviar_AF=0.0041655;Kaviar_AC=644;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.595183;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179632710 rs2291313 T C 100 PASS AC=165;AF=0.503994;AN=214;NS=2504;DP=19335;EAS_AF=0.3224;AMR_AF=0.4827;AFR_AF=0.4085;EUR_AF=0.7763;SAS_AF=0.5552;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291313;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7988;ExAC_nontcga_ALL=0.6556;ExAC_nontcga_AFR=0.4565;ExAC_nontcga_AMR=0.3915;ExAC_nontcga_EAS=0.3108;ExAC_nontcga_FIN=0.7917;ExAC_nontcga_NFE=0.7967;ExAC_nontcga_OTH=0.7089;ExAC_nontcga_SAS=0.5850;AF=0.6715;AF_popmax=0.8001;AF_male=0.6646;AF_female=0.6801;AF_raw=0.6710;AF_afr=0.4576;AF_sas=.;AF_amr=0.4655;AF_eas=0.3250;AF_nfe=0.8001;AF_fin=0.8040;AF_asj=0.8103;AF_oth=0.75;non_topmed_AF_popmax=0.8027;non_neuro_AF_popmax=0.7976;non_cancer_AF_popmax=.;controls_AF_popmax=0.8102;Kaviar_AF=0.666201;Kaviar_AC=102996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.503994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291313;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7988;ExAC_nontcga_ALL=0.6556;ExAC_nontcga_AFR=0.4565;ExAC_nontcga_AMR=0.3915;ExAC_nontcga_EAS=0.3108;ExAC_nontcga_FIN=0.7917;ExAC_nontcga_NFE=0.7967;ExAC_nontcga_OTH=0.7089;ExAC_nontcga_SAS=0.5850;AF=0.6715;AF_popmax=0.8001;AF_male=0.6646;AF_female=0.6801;AF_raw=0.6710;AF_afr=0.4576;AF_sas=.;AF_amr=0.4655;AF_eas=0.3250;AF_nfe=0.8001;AF_fin=0.8040;AF_asj=0.8103;AF_oth=0.75;non_topmed_AF_popmax=0.8027;non_neuro_AF_popmax=0.7976;non_cancer_AF_popmax=.;controls_AF_popmax=0.8102;Kaviar_AF=0.666201;Kaviar_AC=102996;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1859688|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|1 1|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|1 1|1 0|0 1|0 0|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 +2 179633644 rs4894045 G C 100 PASS AC=5;AF=0.0866613;AN=214;NS=2504;DP=22539;EAS_AF=0.0208;AMR_AF=0.1542;AFR_AF=0.0756;EUR_AF=0.0348;SAS_AF=0.1748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon37:c.C8781G:p.S2927S,TTN:NM_133432:exon37:c.C8781G:p.S2927S,TTN:NM_133437:exon37:c.C8781G:p.S2927S,TTN:NM_001256850:exon38:c.C8919G:p.S2973S,TTN:NM_001267550:exon38:c.C8919G:p.S2973S,TTN:NM_133378:exon38:c.C8919G:p.S2973S,TTN:NM_133379:exon38:c.C8919G:p.S2973S;1000g2015aug_all=0.0866613;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894045;CLNALLELEID=56735;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0215;ExAC_nontcga_ALL=0.0707;ExAC_nontcga_AFR=0.0735;ExAC_nontcga_AMR=0.1885;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0571;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0824;ExAC_nontcga_SAS=0.1681;AF=0.0437;AF_popmax=0.1619;AF_male=0.0431;AF_female=0.0444;AF_raw=0.0437;AF_afr=0.0703;AF_sas=.;AF_amr=0.1619;AF_eas=0.0270;AF_nfe=0.0221;AF_fin=0.0524;AF_asj=0.0207;AF_oth=0.0460;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1649;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.062192;Kaviar_AC=9615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.362301;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179634389 rs570467105 TA T 100 PASS AC=214;AF=0.996605;AN=214;NS=2504;DP=12156;EAS_AF=0.994;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570467105;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0525;ExAC_nontcga_AFR=0.0749;ExAC_nontcga_AMR=0.0409;ExAC_nontcga_EAS=0.1216;ExAC_nontcga_FIN=0.0311;ExAC_nontcga_NFE=0.0428;ExAC_nontcga_OTH=0.0425;ExAC_nontcga_SAS=0.0697;AF=0.1649;AF_popmax=0.4670;AF_male=0.1688;AF_female=0.1600;AF_raw=0.1643;AF_afr=0.2208;AF_sas=.;AF_amr=0.1534;AF_eas=0.4670;AF_nfe=0.1253;AF_fin=0.0819;AF_asj=0.0769;AF_oth=0.1178;non_topmed_AF_popmax=0.4635;non_neuro_AF_popmax=0.4670;non_cancer_AF_popmax=.;controls_AF_popmax=0.4768;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179634391 rs573000455 TA T 100 PASS AC=214;AF=0.996605;AN=214;NS=2504;DP=12241;EAS_AF=0.994;AMR_AF=0.9986;AFR_AF=0.9924;EUR_AF=1;SAS_AF=1;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.996605;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573000455;CLNALLELEID=499309;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0487;ExAC_nontcga_AFR=0.0718;ExAC_nontcga_AMR=0.0393;ExAC_nontcga_EAS=0.0998;ExAC_nontcga_FIN=0.0272;ExAC_nontcga_NFE=0.0397;ExAC_nontcga_OTH=0.0365;ExAC_nontcga_SAS=0.0657;AF=0.1652;AF_popmax=0.4676;AF_male=0.1690;AF_female=0.1603;AF_raw=0.1645;AF_afr=0.2221;AF_sas=.;AF_amr=0.1528;AF_eas=0.4676;AF_nfe=0.1252;AF_fin=0.0817;AF_asj=0.0775;AF_oth=0.1195;non_topmed_AF_popmax=0.4641;non_neuro_AF_popmax=0.4676;non_cancer_AF_popmax=.;controls_AF_popmax=0.4768;Kaviar_AF=0.0026843;Kaviar_AC=415;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179634421 rs200875815 T G 100 PASS AC=42;AF=0.215455;AN=214;NS=2504;DP=13192;EAS_AF=0.125;AMR_AF=0.2233;AFR_AF=0.2776;EUR_AF=0.1541;SAS_AF=0.2822;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon36:c.A8749C:p.T2917P,TTN:NM_133432:exon36:c.A8749C:p.T2917P,TTN:NM_133437:exon36:c.A8749C:p.T2917P,TTN:NM_001256850:exon37:c.A8887C:p.T2963P,TTN:NM_001267550:exon37:c.A8887C:p.T2963P,TTN:NM_133378:exon37:c.A8887C:p.T2963P,TTN:NM_133379:exon37:c.A8887C:p.T2963P;1000g2015aug_all=0.215455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200875815;CLNALLELEID=141529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.116;SIFT_converted_rankscore=0.477;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.491;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.55;FATHMM_converted_rankscore=0.711;FATHMM_pred=T;PROVEAN_score=-4.07;PROVEAN_converted_rankscore=0.817;PROVEAN_pred=D;VEST3_score=0.459;VEST3_rankscore=0.829;MetaSVM_score=0.160;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.540;MetaLR_rankscore=0.830;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.705;REVEL_rankscore=0.896;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.313;CADD_raw_rankscore=0.339;CADD_phred=18.25;DANN_score=0.941;DANN_rankscore=0.237;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.970;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.755;Eigen-PC-raw=0.732;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=5.893;phyloP100way_vertebrate_rankscore=0.693;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.756;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=16.376;SiPhy_29way_logOdds_rankscore=0.831;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3906;ExAC_nontcga_AFR=0.4651;ExAC_nontcga_AMR=0.4857;ExAC_nontcga_EAS=0.4835;ExAC_nontcga_FIN=0.4640;ExAC_nontcga_NFE=0.3325;ExAC_nontcga_OTH=0.4026;ExAC_nontcga_SAS=0.4124;AF=0.0066;AF_popmax=0.0108;AF_male=0.0072;AF_female=0.0058;AF_raw=0.0071;AF_afr=0.0006;AF_sas=.;AF_amr=0.0075;AF_eas=0;AF_nfe=0.0108;AF_fin=0;AF_asj=0.0586;AF_oth=0.0137;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0093;Kaviar_AF=0.0071733;Kaviar_AC=1109;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.579335;ALLELE_END;VINYL_score=4 GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 +2 179634936 rs2306636 C T 100 PASS AC=6;AF=0.08127;AN=214;NS=2504;DP=20935;EAS_AF=0.1905;AMR_AF=0.1729;AFR_AF=0.0023;EUR_AF=0.0507;SAS_AF=0.0419;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8354A:p.S2785N,TTN:NM_133432:exon35:c.G8354A:p.S2785N,TTN:NM_133437:exon35:c.G8354A:p.S2785N,TTN:NM_001256850:exon36:c.G8492A:p.S2831N,TTN:NM_001267550:exon36:c.G8492A:p.S2831N,TTN:NM_133378:exon36:c.G8492A:p.S2831N,TTN:NM_133379:exon36:c.G8492A:p.S2831N;1000g2015aug_all=0.08127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306636;CLNALLELEID=56691;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.232;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.06;FATHMM_converted_rankscore=0.398;FATHMM_pred=T;PROVEAN_score=2.53;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.009;VEST3_rankscore=0.363;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.325;CADD_raw_rankscore=0.341;CADD_phred=18.33;DANN_score=0.940;DANN_rankscore=0.234;fathmm-MKL_coding_score=0.342;fathmm-MKL_coding_rankscore=0.248;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.482;Eigen-PC-raw=-0.189;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=2.998;phyloP100way_vertebrate_rankscore=0.489;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=12.356;SiPhy_29way_logOdds_rankscore=0.543;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0451;ExAC_nontcga_ALL=0.0791;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.2620;ExAC_nontcga_EAS=0.2149;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0475;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0420;AF=0.0491;AF_popmax=0.1969;AF_male=0.0508;AF_female=0.0470;AF_raw=0.0491;AF_afr=0.0127;AF_sas=.;AF_amr=0.1969;AF_eas=0.1865;AF_nfe=0.0454;AF_fin=0.0581;AF_asj=0.0621;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1865;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0730327;Kaviar_AC=11291;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.565039;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179634961 rs33917087 C A 100 PASS AC=1;AF=0.00758786;AN=214;NS=2504;DP=21665;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0008;EUR_AF=0.0179;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8329T:p.V2777F,TTN:NM_133432:exon35:c.G8329T:p.V2777F,TTN:NM_133437:exon35:c.G8329T:p.V2777F,TTN:NM_001256850:exon36:c.G8467T:p.V2823F,TTN:NM_001267550:exon36:c.G8467T:p.V2823F,TTN:NM_133378:exon36:c.G8467T:p.V2823F,TTN:NM_133379:exon36:c.G8467T:p.V2823F;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33917087;CLNALLELEID=56687;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.08;SIFT_converted_rankscore=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.640;MutationTaster_converted_rankscore=0.421;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-3.3;PROVEAN_converted_rankscore=0.765;PROVEAN_pred=D;VEST3_score=0.465;VEST3_rankscore=0.557;MetaSVM_score=-0.006;MetaSVM_rankscore=0.821;MetaSVM_pred=T;MetaLR_score=0.349;MetaLR_rankscore=0.714;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.904;CADD_raw_rankscore=0.410;CADD_phred=21.9;DANN_score=0.943;DANN_rankscore=0.240;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.620;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.726;Eigen-PC-raw=0.707;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.06;GERP++_RS_rankscore=0.983;phyloP100way_vertebrate=2.166;phyloP100way_vertebrate_rankscore=0.418;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.964;phastCons100way_vertebrate_rankscore=0.336;phastCons20way_mammalian=0.857;phastCons20way_mammalian_rankscore=0.358;SiPhy_29way_logOdds=20.628;SiPhy_29way_logOdds_rankscore=0.995;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0220;ExAC_nontcga_ALL=0.0139;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0242;ExAC_nontcga_NFE=0.0212;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0026;AF=0.0160;AF_popmax=0.0233;AF_male=0.0153;AF_female=0.0169;AF_raw=0.0160;AF_afr=0.0033;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0233;AF_fin=0.0207;AF_asj=0.0034;AF_oth=0.0230;non_topmed_AF_popmax=0.0239;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.573169;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179635882 rs4894047 C T 100 PASS AC=214;AF=0.967851;AN=214;NS=2504;DP=22078;EAS_AF=1;AMR_AF=0.9942;AFR_AF=0.8812;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.967851;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9733;AF_popmax=1;AF_male=0.9733;AF_female=0.9734;AF_raw=0.9733;AF_afr=0.9053;AF_sas=.;AF_amr=0.9941;AF_eas=1;AF_nfe=0.9997;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179635888 rs570924209 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22137;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570924209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.893e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.848e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.373e-05;AF_popmax=6.488e-05;AF_male=5.726e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.033e-05;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179635919 rs13011633 C T 100 PASS AC=11;AF=0.0155751;AN=214;NS=2504;DP=22250;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0008;EUR_AF=0.0427;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0155751;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13011633;CLNALLELEID=141528;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0377;ExAC_nontcga_ALL=0.0242;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0200;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0281;ExAC_nontcga_NFE=0.0359;ExAC_nontcga_OTH=0.0375;ExAC_nontcga_SAS=0.0090;AF=0.0237;AF_popmax=0.0401;AF_male=0.0232;AF_female=0.0243;AF_raw=0.0237;AF_afr=0.0052;AF_sas=.;AF_amr=0.0401;AF_eas=0.0006;AF_nfe=0.0350;AF_fin=0.0239;AF_asj=0.0069;AF_oth=0.0359;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0433;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0257371;Kaviar_AC=3979;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +2 179636257 rs2291305 T A 100 PASS AC=6;AF=0.0814696;AN=214;NS=2504;DP=18728;EAS_AF=0.1915;AMR_AF=0.1729;AFR_AF=0.0023;EUR_AF=0.0507;SAS_AF=0.0419;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0814696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291305;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0490;AF_popmax=0.1969;AF_male=0.0506;AF_female=0.0470;AF_raw=0.0492;AF_afr=0.0126;AF_sas=.;AF_amr=0.1969;AF_eas=0.1881;AF_nfe=0.0452;AF_fin=0.0581;AF_asj=0.0621;AF_oth=0.0496;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.012626;Kaviar_AC=1952;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179637861 rs56142888 C G 100 PASS AC=5;AF=0.0754792;AN=214;NS=2504;DP=19209;EAS_AF=0.1905;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon32:c.G7692C:p.M2564I,TTN:NM_133432:exon32:c.G7692C:p.M2564I,TTN:NM_133437:exon32:c.G7692C:p.M2564I,TTN:NM_001256850:exon33:c.G7830C:p.M2610I,TTN:NM_001267550:exon33:c.G7830C:p.M2610I,TTN:NM_133378:exon33:c.G7830C:p.M2610I,TTN:NM_133379:exon33:c.G7830C:p.M2610I;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56142888;CLNALLELEID=56615;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.339;SIFT_converted_rankscore=0.236;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_converted_rankscore=0.396;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_converted_rankscore=0.326;PROVEAN_pred=N;VEST3_score=0.168;VEST3_rankscore=0.447;MetaSVM_score=-1.071;MetaSVM_rankscore=0.091;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.057;CADD_raw_rankscore=0.195;CADD_phred=10.98;DANN_score=0.920;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.853;fathmm-MKL_coding_rankscore=0.442;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.302;Eigen-PC-raw=-0.094;GenoCanyon_score=0.615;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.71;GERP++_RS_rankscore=0.589;phyloP100way_vertebrate=0.689;phyloP100way_vertebrate_rankscore=0.249;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=4.003;SiPhy_29way_logOdds_rankscore=0.090;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.0742;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.2602;ExAC_nontcga_EAS=0.2123;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0522;ExAC_nontcga_SAS=0.0183;AF=0.0483;AF_popmax=0.1962;AF_male=0.0500;AF_female=0.0463;AF_raw=0.0483;AF_afr=0.0124;AF_sas=.;AF_amr=0.1962;AF_eas=0.1881;AF_nfe=0.0440;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1968;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.2002;Kaviar_AF=0.068796;Kaviar_AC=10636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.704223;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179638238 rs2291306 G A 100 PASS AC=22;AF=0.0754792;AN=214;NS=2504;DP=20564;EAS_AF=0.0218;AMR_AF=0.0706;AFR_AF=0.0809;EUR_AF=0.0954;SAS_AF=0.1063;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.C7407T:p.Y2469Y,TTN:NM_133432:exon31:c.C7407T:p.Y2469Y,TTN:NM_133437:exon31:c.C7407T:p.Y2469Y,TTN:NM_001256850:exon32:c.C7545T:p.Y2515Y,TTN:NM_001267550:exon32:c.C7545T:p.Y2515Y,TTN:NM_133378:exon32:c.C7545T:p.Y2515Y,TTN:NM_133379:exon32:c.C7545T:p.Y2515Y;1000g2015aug_all=0.0754792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291306;CLNALLELEID=56585;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1147;ExAC_nontcga_ALL=0.0903;ExAC_nontcga_AFR=0.0774;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0.0228;ExAC_nontcga_FIN=0.0926;ExAC_nontcga_NFE=0.1078;ExAC_nontcga_OTH=0.0807;ExAC_nontcga_SAS=0.1026;AF=0.0947;AF_popmax=0.1139;AF_male=0.0950;AF_female=0.0944;AF_raw=0.0948;AF_afr=0.0785;AF_sas=.;AF_amr=0.0366;AF_eas=0.0257;AF_nfe=0.1139;AF_fin=0.0964;AF_asj=0.0690;AF_oth=0.0994;non_topmed_AF_popmax=0.1149;non_neuro_AF_popmax=0.1128;non_cancer_AF_popmax=.;controls_AF_popmax=0.1154;Kaviar_AF=0.0923533;Kaviar_AC=14278;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.210169;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 +2 179638246 rs150208472 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=20591;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.G7399C:p.G2467R,TTN:NM_133432:exon31:c.G7399C:p.G2467R,TTN:NM_133437:exon31:c.G7399C:p.G2467R,TTN:NM_001256850:exon32:c.G7537C:p.G2513R,TTN:NM_001267550:exon32:c.G7537C:p.G2513R,TTN:NM_133378:exon32:c.G7537C:p.G2513R,TTN:NM_133379:exon32:c.G7537C:p.G2513R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150208472;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.978;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.11;FATHMM_converted_rankscore=0.775;FATHMM_pred=T;PROVEAN_score=-6.31;PROVEAN_converted_rankscore=0.941;PROVEAN_pred=D;VEST3_score=0.41;VEST3_rankscore=0.801;MetaSVM_score=0.702;MetaSVM_rankscore=0.932;MetaSVM_pred=D;MetaLR_score=0.748;MetaLR_rankscore=0.914;MetaLR_pred=D;M-CAP_score=0.081;M-CAP_rankscore=0.736;M-CAP_pred=D;REVEL_score=0.800;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.644;CADD_raw_rankscore=0.259;CADD_phred=14.09;DANN_score=0.833;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.838;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.933;Eigen-PC-raw=0.839;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.114;SiPhy_29way_logOdds_rankscore=0.979;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.179970;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179638721 rs4894048 C T 100 PASS AC=5;AF=0.0874601;AN=214;NS=2504;DP=19821;EAS_AF=0.0149;AMR_AF=0.1599;AFR_AF=0.0915;EUR_AF=0.0358;SAS_AF=0.1585;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon30:c.G7036A:p.G2346S,TTN:NM_133432:exon30:c.G7036A:p.G2346S,TTN:NM_133437:exon30:c.G7036A:p.G2346S,TTN:NM_001256850:exon31:c.G7174A:p.G2392S,TTN:NM_001267550:exon31:c.G7174A:p.G2392S,TTN:NM_133378:exon31:c.G7174A:p.G2392S,TTN:NM_133379:exon31:c.G7174A:p.G2392S;1000g2015aug_all=0.0874601;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4894048;CLNALLELEID=56542;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.506;Polyphen2_HVAR_rankscore=0.604;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.738;MutationTaster_converted_rankscore=0.404;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.54;FATHMM_converted_rankscore=0.817;FATHMM_pred=D;PROVEAN_score=-3.83;PROVEAN_converted_rankscore=0.806;PROVEAN_pred=D;VEST3_score=0.134;VEST3_rankscore=0.169;MetaSVM_score=-0.660;MetaSVM_rankscore=0.623;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.152;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.571;REVEL_rankscore=0.828;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.444;CADD_raw_rankscore=0.355;CADD_phred=19.10;DANN_score=0.938;DANN_rankscore=0.232;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_rankscore=0.575;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.461;Eigen-PC-raw=0.431;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.342;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.86;GERP++_RS_rankscore=0.625;phyloP100way_vertebrate=4.172;phyloP100way_vertebrate_rankscore=0.578;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=15.039;SiPhy_29way_logOdds_rankscore=0.713;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000266413.2;GTEx_V6p_tissue=Adipose_Subcutaneous;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0221;ExAC_nontcga_ALL=0.0697;ExAC_nontcga_AFR=0.0962;ExAC_nontcga_AMR=0.1913;ExAC_nontcga_EAS=0.0171;ExAC_nontcga_FIN=0.0575;ExAC_nontcga_NFE=0.0253;ExAC_nontcga_OTH=0.0778;ExAC_nontcga_SAS=0.1493;AF=0.0497;AF_popmax=0.1651;AF_male=0.0498;AF_female=0.0495;AF_raw=0.0497;AF_afr=0.0916;AF_sas=.;AF_amr=0.1651;AF_eas=0.0218;AF_nfe=0.0221;AF_fin=0.0541;AF_asj=0.0243;AF_oth=0.0469;non_topmed_AF_popmax=0.1716;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1585;Kaviar_AF=0.0620238;Kaviar_AC=9589;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.341374;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179640152 rs528516043 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20612;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G6301A:p.A2101T,TTN:NM_133432:exon27:c.G6301A:p.A2101T,TTN:NM_133437:exon27:c.G6301A:p.A2101T,TTN:NM_001256850:exon28:c.G6439A:p.A2147T,TTN:NM_001267550:exon28:c.G6439A:p.A2147T,TTN:NM_133378:exon28:c.G6439A:p.A2147T,TTN:NM_133379:exon28:c.G6439A:p.A2147T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528516043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.011;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.41;Polyphen2_HDIV_rankscore=0.444;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.442;Polyphen2_HVAR_rankscore=0.500;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.764;MutationTaster_converted_rankscore=0.410;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=-2.82;PROVEAN_converted_rankscore=0.677;PROVEAN_pred=D;VEST3_score=0.16;VEST3_rankscore=0.542;MetaSVM_score=0.096;MetaSVM_rankscore=0.841;MetaSVM_pred=D;MetaLR_score=0.397;MetaLR_rankscore=0.750;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.389;M-CAP_pred=T;REVEL_score=0.369;REVEL_rankscore=0.692;MutPred_score=0.712;MutPred_rankscore=0.848;CADD_raw=2.105;CADD_raw_rankscore=0.314;CADD_phred=16.88;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.882;fathmm-MKL_coding_rankscore=0.478;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.377;Eigen-PC-raw=0.399;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.375;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=4.899;phyloP100way_vertebrate_rankscore=0.627;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.837;SiPhy_29way_logOdds_rankscore=0.570;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.881833;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +2 179641112 rs141213991 C A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=22171;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5341T:p.A1781S,TTN:NM_133432:exon27:c.G5341T:p.A1781S,TTN:NM_133437:exon27:c.G5341T:p.A1781S,TTN:NM_001256850:exon28:c.G5479T:p.A1827S,TTN:NM_001267550:exon28:c.G5479T:p.A1827S,TTN:NM_133378:exon28:c.G5479T:p.A1827S,TTN:NM_133379:exon28:c.G5479T:p.A1827S;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141213991;CLNALLELEID=56349;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.087;SIFT_converted_rankscore=0.377;SIFT_pred=T;Polyphen2_HDIV_score=0.953;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.473;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.437;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-1.38;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.151;VEST3_rankscore=0.711;MetaSVM_score=-0.370;MetaSVM_rankscore=0.730;MetaSVM_pred=T;MetaLR_score=0.277;MetaLR_rankscore=0.649;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.611;M-CAP_pred=D;REVEL_score=0.254;REVEL_rankscore=0.569;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.291;CADD_raw_rankscore=0.336;CADD_phred=18.10;DANN_score=0.945;DANN_rankscore=0.243;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.789;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.452;Eigen-PC-raw=0.527;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.16;GERP++_RS_rankscore=0.704;phyloP100way_vertebrate=6.143;phyloP100way_vertebrate_rankscore=0.713;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=18.648;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.877503;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641336 rs150737838 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19405;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5117A:p.R1706H,TTN:NM_133432:exon27:c.G5117A:p.R1706H,TTN:NM_133437:exon27:c.G5117A:p.R1706H,TTN:NM_001256850:exon28:c.G5255A:p.R1752H,TTN:NM_001267550:exon28:c.G5255A:p.R1752H,TTN:NM_133378:exon28:c.G5255A:p.R1752H,TTN:NM_133379:exon28:c.G5255A:p.R1752H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150737838;CLNALLELEID=499326;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.035;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.955;MutationTaster_converted_rankscore=0.482;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.683;FATHMM_pred=T;PROVEAN_score=-3.44;PROVEAN_converted_rankscore=0.784;PROVEAN_pred=D;VEST3_score=0.37;VEST3_rankscore=0.714;MetaSVM_score=-0.114;MetaSVM_rankscore=0.798;MetaSVM_pred=T;MetaLR_score=0.405;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.652;M-CAP_pred=D;REVEL_score=0.521;REVEL_rankscore=0.799;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.253;CADD_raw_rankscore=0.450;CADD_phred=22.8;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.637;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.611;Eigen-PC-raw=0.608;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.05;GERP++_RS_rankscore=0.674;phyloP100way_vertebrate=4.941;phyloP100way_vertebrate_rankscore=0.630;phyloP20way_mammalian=0.010;phyloP20way_mammalian_rankscore=0.139;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.975;phastCons20way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=18.391;SiPhy_29way_logOdds_rankscore=0.904;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=6.369e-05;AF_popmax=0.0006;AF_male=5.723e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.898512;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641802 rs149453892 A G 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=17615;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0266;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149453892;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0048;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0235;AF=0.0009;AF_popmax=0.0014;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0014;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0038292;Kaviar_AC=592;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.321781;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179641975 rs12476289 C T 100 PASS AC=5;AF=0.0752796;AN=214;NS=2504;DP=18493;EAS_AF=0.1895;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon26:c.G4577A:p.R1526Q,TTN:NM_133432:exon26:c.G4577A:p.R1526Q,TTN:NM_133437:exon26:c.G4577A:p.R1526Q,TTN:NM_001256850:exon27:c.G4715A:p.R1572Q,TTN:NM_001267550:exon27:c.G4715A:p.R1572Q,TTN:NM_133378:exon27:c.G4715A:p.R1572Q,TTN:NM_133379:exon27:c.G4715A:p.R1572Q;1000g2015aug_all=0.0752796;GWAS=rs12476289|QT-interval|0.29|2E-6|PMID:20031603;ORegAnno_REGULATORY_P=rs12476289|QT-interval|0.29|2E-6|PMID:20031603;avsnp150=rs12476289;CLNALLELEID=56263;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.603;SIFT_converted_rankscore=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.753;Polyphen2_HDIV_rankscore=0.435;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.273;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.0;FATHMM_converted_rankscore=0.414;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.311;MetaSVM_score=-1.051;MetaSVM_rankscore=0.140;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.064;REVEL_rankscore=0.190;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.306;CADD_raw_rankscore=0.338;CADD_phred=18.21;DANN_score=0.977;DANN_rankscore=0.349;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_rankscore=0.356;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.019;Eigen-PC-raw=0.126;GenoCanyon_score=0.835;GenoCanyon_score_rankscore=0.247;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.0;GERP++_RS_rankscore=0.661;phyloP100way_vertebrate=0.791;phyloP100way_vertebrate_rankscore=0.264;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.925;phastCons100way_vertebrate_rankscore=0.319;phastCons20way_mammalian=0.934;phastCons20way_mammalian_rankscore=0.407;SiPhy_29way_logOdds=7.247;SiPhy_29way_logOdds_rankscore=0.251;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0430;ExAC_nontcga_ALL=0.0738;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.2606;ExAC_nontcga_EAS=0.2112;ExAC_nontcga_FIN=0.0573;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0183;AF=0.0481;AF_popmax=0.1939;AF_male=0.0498;AF_female=0.0460;AF_raw=0.0482;AF_afr=0.0125;AF_sas=.;AF_amr=0.1939;AF_eas=0.1860;AF_nfe=0.0438;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0496;non_topmed_AF_popmax=0.1943;non_neuro_AF_popmax=0.1860;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0688154;Kaviar_AC=10639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755814;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179642425 rs719201 G A 100 PASS AC=212;AF=0.911542;AN=214;NS=2504;DP=20701;EAS_AF=0.8829;AMR_AF=0.9467;AFR_AF=0.8185;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.911542;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs719201;CLNALLELEID=56228;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.9914;ExAC_nontcga_ALL=0.9570;ExAC_nontcga_AFR=0.8522;ExAC_nontcga_AMR=0.9301;ExAC_nontcga_EAS=0.8742;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9884;ExAC_nontcga_OTH=0.9669;ExAC_nontcga_SAS=0.9583;AF=0.9428;AF_popmax=0.9892;AF_male=0.9418;AF_female=0.9439;AF_raw=0.9425;AF_afr=0.8513;AF_sas=.;AF_amr=0.9528;AF_eas=0.8734;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9743;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.946476;Kaviar_AC=146327;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.642426;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179642589 rs72647876 C G,T 100 PASS AC=3,1;AF=0.0103834,0.000399361;AN=214;NS=2504;DP=18433;EAS_AF=0.0159,0;AMR_AF=0.0101,0;AFR_AF=0.0008,0;EUR_AF=0.0119,0.002;SAS_AF=0.0164,0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184C:p.R1395P,TTN:NM_133432:exon24:c.G4184C:p.R1395P,TTN:NM_133437:exon24:c.G4184C:p.R1395P,TTN:NM_001256850:exon25:c.G4322C:p.R1441P,TTN:NM_001267550:exon25:c.G4322C:p.R1441P,TTN:NM_133378:exon25:c.G4322C:p.R1441P,TTN:NM_133379:exon25:c.G4322C:p.R1441P;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647876;CLNALLELEID=56211;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.095;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-4.19;PROVEAN_converted_rankscore=0.858;PROVEAN_pred=D;VEST3_score=0.518;VEST3_rankscore=0.760;MetaSVM_score=-0.403;MetaSVM_rankscore=0.720;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_rankscore=0.619;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.459;REVEL_rankscore=0.760;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.261;CADD_raw_rankscore=0.571;CADD_phred=23.9;DANN_score=0.959;DANN_rankscore=0.276;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.854;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.804;Eigen-PC-raw=0.805;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.254;SiPhy_29way_logOdds_rankscore=0.939;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0076;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0059;ExAC_nontcga_EAS=0.0082;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0174;AF=0.0078;AF_popmax=0.0103;AF_male=0.0074;AF_female=0.0083;AF_raw=0.0078;AF_afr=0.0014;AF_sas=.;AF_amr=0.0094;AF_eas=0.0103;AF_nfe=0.0089;AF_fin=0.0176;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0116;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.660324;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184A:p.R1395H,TTN:NM_133432:exon24:c.G4184A:p.R1395H,TTN:NM_133437:exon24:c.G4184A:p.R1395H,TTN:NM_001256850:exon25:c.G4322A:p.R1441H,TTN:NM_001267550:exon25:c.G4322A:p.R1441H,TTN:NM_133378:exon25:c.G4322A:p.R1441H,TTN:NM_133379:exon25:c.G4322A:p.R1441H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647876;CLNALLELEID=286341;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.03;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.14;FATHMM_converted_rankscore=0.652;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_converted_rankscore=0.769;PROVEAN_pred=D;VEST3_score=0.219;VEST3_rankscore=0.705;MetaSVM_score=-0.144;MetaSVM_rankscore=0.791;MetaSVM_pred=T;MetaLR_score=0.438;MetaLR_rankscore=0.778;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.546;M-CAP_pred=D;REVEL_score=0.377;REVEL_rankscore=0.699;MutPred_score=0.302;MutPred_rankscore=0.271;CADD_raw=4.476;CADD_raw_rankscore=0.599;CADD_phred=24.2;DANN_score=0.985;DANN_rankscore=0.419;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.802;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.841;Eigen-PC-raw=0.828;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.45;GERP++_RS_rankscore=0.796;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.254;SiPhy_29way_logOdds_rankscore=0.939;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.887e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.687e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=.;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.660324;ALLELE_END;VINYL_score=16 GT 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179643775 rs36021856 C T 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=21020;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36021856;CLNALLELEID=56183;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.268;SIFT_converted_rankscore=0.599;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.24;FATHMM_converted_rankscore=0.668;FATHMM_pred=T;PROVEAN_score=-4.56;PROVEAN_converted_rankscore=0.908;PROVEAN_pred=D;VEST3_score=0.454;VEST3_rankscore=0.774;MetaSVM_score=-0.120;MetaSVM_rankscore=0.796;MetaSVM_pred=T;MetaLR_score=0.356;MetaLR_rankscore=0.719;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.679;REVEL_rankscore=0.884;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.042;CADD_raw_rankscore=0.426;CADD_phred=22.4;DANN_score=0.965;DANN_rankscore=0.293;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.816;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.902;Eigen-PC-raw=0.882;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=7.868;phyloP100way_vertebrate_rankscore=0.854;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.895;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0103;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0766;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0005;AF=0.0165;AF_popmax=0.0159;AF_male=0.0134;AF_female=0.0204;AF_raw=0.0166;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0159;AF_fin=0.0662;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0192;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0290;Kaviar_AF=0.0088356;Kaviar_AC=1366;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.754354;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179643886 rs2291302 A G 100 PASS AC=212;AF=0.919928;AN=214;NS=2504;DP=19674;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8487;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.919928;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291302;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9913;ExAC_nontcga_ALL=0.9589;ExAC_nontcga_AFR=0.8703;ExAC_nontcga_AMR=0.9310;ExAC_nontcga_EAS=0.8761;ExAC_nontcga_FIN=0.9808;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9667;ExAC_nontcga_SAS=0.9583;AF=0.9469;AF_popmax=0.9892;AF_male=0.9464;AF_female=0.9475;AF_raw=0.9467;AF_afr=0.8665;AF_sas=.;AF_amr=0.9528;AF_eas=0.8721;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9742;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.952433;Kaviar_AC=147248;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.433063;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179643934 rs2291301 A G 100 PASS AC=212;AF=0.920128;AN=214;NS=2504;DP=19329;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8495;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927055;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.920128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291301;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9916;ExAC_nontcga_ALL=0.9591;ExAC_nontcga_AFR=0.8698;ExAC_nontcga_AMR=0.9315;ExAC_nontcga_EAS=0.8754;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9668;ExAC_nontcga_SAS=0.9583;AF=0.9471;AF_popmax=0.9892;AF_male=0.9468;AF_female=0.9476;AF_raw=0.9468;AF_afr=0.8672;AF_sas=.;AF_amr=0.9528;AF_eas=0.8721;AF_nfe=0.9892;AF_fin=0.9793;AF_asj=1;AF_oth=0.9760;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.94308;Kaviar_AC=145802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.558053;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179644035 rs1552280 G A 100 PASS AC=212;AF=0.920128;AN=214;NS=2504;DP=17368;EAS_AF=0.8829;AMR_AF=0.9496;AFR_AF=0.8495;EUR_AF=0.992;SAS_AF=0.9591;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L;1000g2015aug_all=0.920128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1552280;CLNALLELEID=56166;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.329;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.221;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=2.21;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.092;MetaSVM_score=-0.961;MetaSVM_rankscore=0.391;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.182;REVEL_rankscore=0.459;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.581;CADD_raw_rankscore=0.371;CADD_phred=19.99;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.732;fathmm-MKL_coding_rankscore=0.355;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.312;Eigen-PC-raw=-0.104;GenoCanyon_score=0.932;GenoCanyon_score_rankscore=0.270;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=6.294;phyloP100way_vertebrate_rankscore=0.725;phyloP20way_mammalian=0.168;phyloP20way_mammalian_rankscore=0.246;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=11.842;SiPhy_29way_logOdds_rankscore=0.515;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9914;ExAC_nontcga_ALL=0.9587;ExAC_nontcga_AFR=0.8688;ExAC_nontcga_AMR=0.9315;ExAC_nontcga_EAS=0.8752;ExAC_nontcga_FIN=0.9809;ExAC_nontcga_NFE=0.9885;ExAC_nontcga_OTH=0.9668;ExAC_nontcga_SAS=0.9583;AF=0.9469;AF_popmax=0.9892;AF_male=0.9466;AF_female=0.9473;AF_raw=0.9467;AF_afr=0.8662;AF_sas=.;AF_amr=0.9539;AF_eas=0.8728;AF_nfe=0.9892;AF_fin=0.9796;AF_asj=1;AF_oth=0.9742;non_topmed_AF_popmax=0.9884;non_neuro_AF_popmax=0.9893;non_cancer_AF_popmax=.;controls_AF_popmax=0.9882;Kaviar_AF=0.956534;Kaviar_AC=147882;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.595224;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179644160 rs2291308 T C 100 PASS AC=5;AF=0.0756789;AN=214;NS=2504;DP=16861;EAS_AF=0.1925;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0487;SAS_AF=0.0143;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.A3621G:p.R1207R,TTN:NM_133432:exon22:c.A3621G:p.R1207R,TTN:NM_133437:exon22:c.A3621G:p.R1207R,TTN:NM_001256850:exon23:c.A3759G:p.R1253R,TTN:NM_001267550:exon23:c.A3759G:p.R1253R,TTN:NM_133378:exon23:c.A3759G:p.R1253R,TTN:NM_133379:exon23:c.A3759G:p.R1253R;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291308;CLNALLELEID=56150;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0422;ExAC_nontcga_ALL=0.0899;ExAC_nontcga_AFR=0.0116;ExAC_nontcga_AMR=0.2875;ExAC_nontcga_EAS=0.2489;ExAC_nontcga_FIN=0.0655;ExAC_nontcga_NFE=0.0571;ExAC_nontcga_OTH=0.0577;ExAC_nontcga_SAS=0.0212;AF=0.0483;AF_popmax=0.1958;AF_male=0.0499;AF_female=0.0463;AF_raw=0.0484;AF_afr=0.0125;AF_sas=.;AF_amr=0.1958;AF_eas=0.1881;AF_nfe=0.0439;AF_fin=0.0581;AF_asj=0.0552;AF_oth=0.0506;non_topmed_AF_popmax=0.1963;non_neuro_AF_popmax=0.1881;non_cancer_AF_popmax=.;controls_AF_popmax=0.1992;Kaviar_AF=0.0675864;Kaviar_AC=10449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.515780;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179644848 rs564353179 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18070;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.G3470C:p.G1157A,TTN:NM_133432:exon21:c.G3470C:p.G1157A,TTN:NM_133437:exon21:c.G3470C:p.G1157A,TTN:NM_001256850:exon22:c.G3608C:p.G1203A,TTN:NM_001267550:exon22:c.G3608C:p.G1203A,TTN:NM_133378:exon22:c.G3608C:p.G1203A,TTN:NM_133379:exon22:c.G3608C:p.G1203A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564353179;CLNALLELEID=392415;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.335;SIFT_converted_rankscore=0.211;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.202;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.257;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.807;MutationTaster_converted_rankscore=0.346;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.656;PROVEAN_pred=D;VEST3_score=0.234;VEST3_rankscore=0.400;MetaSVM_score=-0.929;MetaSVM_rankscore=0.443;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_rankscore=0.402;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.491;M-CAP_pred=D;REVEL_score=0.092;REVEL_rankscore=0.271;MutPred_score=0.303;MutPred_rankscore=0.272;CADD_raw=1.775;CADD_raw_rankscore=0.274;CADD_phred=14.84;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.697;fathmm-MKL_coding_rankscore=0.340;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.209;Eigen-PC-raw=0.019;GenoCanyon_score=0.160;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.89;GERP++_RS_rankscore=0.632;phyloP100way_vertebrate=3.366;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.193;SiPhy_29way_logOdds_rankscore=0.726;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.545e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=0;AF_female=7.179e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.610085;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179644855 rs10497520 T C 100 PASS AC=188;AF=0.5002;AN=214;NS=2504;DP=18494;EAS_AF=0.2173;AMR_AF=0.5086;AFR_AF=0.4077;EUR_AF=0.8569;SAS_AF=0.544;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E;1000g2015aug_all=0.5002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10497520;CLNALLELEID=56138;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.43;SIFT_converted_rankscore=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_rankscore=0.454;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.444;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.796;MutationTaster_converted_rankscore=0.291;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.0;FATHMM_converted_rankscore=0.629;FATHMM_pred=T;PROVEAN_score=-2.42;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=N;VEST3_score=0.266;VEST3_rankscore=0.616;MetaSVM_score=-1.063;MetaSVM_rankscore=0.110;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.202;REVEL_rankscore=0.492;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.524;CADD_raw_rankscore=0.365;CADD_phred=19.62;DANN_score=0.973;DANN_rankscore=0.327;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.772;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.034;Eigen-PC-raw=0.208;GenoCanyon_score=0.836;GenoCanyon_score_rankscore=0.248;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=4.100;phyloP100way_vertebrate_rankscore=0.573;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.647;SiPhy_29way_logOdds_rankscore=0.559;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000079150.13|ENSG00000079150.13;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8702;ExAC_nontcga_ALL=0.6808;ExAC_nontcga_AFR=0.4615;ExAC_nontcga_AMR=0.3690;ExAC_nontcga_EAS=0.1945;ExAC_nontcga_FIN=0.8174;ExAC_nontcga_NFE=0.8643;ExAC_nontcga_OTH=0.7587;ExAC_nontcga_SAS=0.5795;AF=0.7065;AF_popmax=0.8670;AF_male=0.6998;AF_female=0.7149;AF_raw=0.7062;AF_afr=0.4649;AF_sas=.;AF_amr=0.4882;AF_eas=0.2086;AF_nfe=0.8670;AF_fin=0.8291;AF_asj=0.8793;AF_oth=0.8072;non_topmed_AF_popmax=0.8655;non_neuro_AF_popmax=0.8652;non_cancer_AF_popmax=.;controls_AF_popmax=0.8648;Kaviar_AF=0.70208;Kaviar_AC=108543;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771433;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 179647546 rs55863869 A G 100 PASS AC=8;AF=0.0776757;AN=214;NS=2504;DP=19961;EAS_AF=0.1944;AMR_AF=0.1715;AFR_AF=0.0023;EUR_AF=0.0557;SAS_AF=0.0153;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon17:c.T2949C:p.Y983Y,TTN:NM_133432:exon17:c.T2949C:p.Y983Y,TTN:NM_133437:exon17:c.T2949C:p.Y983Y,TTN:NM_001256850:exon18:c.T3087C:p.Y1029Y,TTN:NM_001267550:exon18:c.T3087C:p.Y1029Y,TTN:NM_133378:exon18:c.T3087C:p.Y1029Y,TTN:NM_133379:exon18:c.T3087C:p.Y1029Y;1000g2015aug_all=0.0776757;GWAS=rs55863869|QT-interval|1.92|2E-10|PMID:29213071;ORegAnno_REGULATORY_P=rs55863869|QT-interval|1.92|2E-10|PMID:29213071;avsnp150=rs55863869;CLNALLELEID=56072;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0476;ExAC_nontcga_ALL=0.0772;ExAC_nontcga_AFR=0.0107;ExAC_nontcga_AMR=0.2635;ExAC_nontcga_EAS=0.2138;ExAC_nontcga_FIN=0.0639;ExAC_nontcga_NFE=0.0499;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0187;AF=0.0537;AF_popmax=0.2017;AF_male=0.0547;AF_female=0.0523;AF_raw=0.0537;AF_afr=0.0133;AF_sas=.;AF_amr=0.2017;AF_eas=0.1918;AF_nfe=0.0517;AF_fin=0.0642;AF_asj=0.0552;AF_oth=0.0579;non_topmed_AF_popmax=0.2025;non_neuro_AF_popmax=0.1918;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.0718878;Kaviar_AC=11114;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.800342;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179647823 rs60305852 C T 100 PASS AC=2;AF=0.0828674;AN=214;NS=2504;DP=17357;EAS_AF=0.1171;AMR_AF=0.0548;AFR_AF=0.1528;EUR_AF=0.0089;SAS_AF=0.0491;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0828674;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60305852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0427;ExAC_nontcga_AFR=0.1369;ExAC_nontcga_AMR=0.0697;ExAC_nontcga_EAS=0.1241;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0351;ExAC_nontcga_SAS=0.0488;AF=0.0538;AF_popmax=0.1363;AF_male=0.0548;AF_female=0.0525;AF_raw=0.0539;AF_afr=0.1363;AF_sas=.;AF_amr=0.0496;AF_eas=0.1245;AF_nfe=0.0106;AF_fin=0.0207;AF_asj=0.0035;AF_oth=0.0267;non_topmed_AF_popmax=0.1368;non_neuro_AF_popmax=0.1463;non_cancer_AF_popmax=.;controls_AF_popmax=0.1396;Kaviar_AF=0.037645;Kaviar_AC=5820;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280250;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179647824 rs72647864 G A 100 PASS AC=6;AF=0.0181709;AN=214;NS=2504;DP=17322;EAS_AF=0;AMR_AF=0.0533;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0225;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0181709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0362;ExAC_nontcga_ALL=0.0301;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0655;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0335;ExAC_nontcga_OTH=0.0219;ExAC_nontcga_SAS=0.0260;AF=0.0241;AF_popmax=0.0554;AF_male=0.0233;AF_female=0.0251;AF_raw=0.0241;AF_afr=0.0079;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0349;AF_fin=0.0179;AF_asj=0.0312;AF_oth=0.0285;non_topmed_AF_popmax=0.0580;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0300966;Kaviar_AC=4653;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.280250;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179648778 rs199707799 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199707799;CLNALLELEID=499622;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.170684;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 179649134 rs562733195 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19236;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562733195;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.914376;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179650408 rs35813871 G A 100 PASS AC=56;AF=0.100439;AN=214;NS=2504;DP=21394;EAS_AF=0.001;AMR_AF=0.1499;AFR_AF=0.0862;EUR_AF=0.2157;SAS_AF=0.0685;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I;1000g2015aug_all=0.100439;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35813871;CLNALLELEID=55970;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.593;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.730;MutationTaster_converted_rankscore=0.372;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_converted_rankscore=0.717;PROVEAN_pred=D;VEST3_score=0.197;VEST3_rankscore=0.656;MetaSVM_score=-1.116;MetaSVM_rankscore=0.026;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.681;CADD_raw_rankscore=0.383;CADD_phred=20.7;DANN_score=0.939;DANN_rankscore=0.233;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.621;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.580;Eigen-PC-raw=0.634;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.51;GERP++_RS_rankscore=0.817;phyloP100way_vertebrate=5.937;phyloP100way_vertebrate_rankscore=0.697;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.784;SiPhy_29way_logOdds_rankscore=0.964;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2345;ExAC_nontcga_ALL=0.1630;ExAC_nontcga_AFR=0.1058;ExAC_nontcga_AMR=0.1071;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.1225;ExAC_nontcga_NFE=0.2378;ExAC_nontcga_OTH=0.1960;ExAC_nontcga_SAS=0.0774;AF=0.1611;AF_popmax=0.2103;AF_male=0.1635;AF_female=0.1582;AF_raw=0.1616;AF_afr=0.1054;AF_sas=.;AF_amr=0.1592;AF_eas=0.0006;AF_nfe=0.2103;AF_fin=0.1312;AF_asj=0.3793;AF_oth=0.1801;non_topmed_AF_popmax=0.1959;non_neuro_AF_popmax=0.2113;non_cancer_AF_popmax=.;controls_AF_popmax=0.1730;Kaviar_AF=0.174571;Kaviar_AC=26989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.739854;ALLELE_END;VINYL_score=4 GT 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 +2 179650701 rs6715406 C T 100 PASS AC=81;AF=0.204673;AN=214;NS=2504;DP=20748;EAS_AF=0.0685;AMR_AF=0.1916;AFR_AF=0.1445;EUR_AF=0.4135;SAS_AF=0.2209;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_133437:exon13:c.G2106A:p.E702E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_133379:exon14:c.G2244A:p.E748E;1000g2015aug_all=0.204673;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6715406;CLNALLELEID=55939;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4057;ExAC_nontcga_ALL=0.3133;ExAC_nontcga_AFR=0.1870;ExAC_nontcga_AMR=0.1517;ExAC_nontcga_EAS=0.0674;ExAC_nontcga_FIN=0.4780;ExAC_nontcga_NFE=0.4008;ExAC_nontcga_OTH=0.3718;ExAC_nontcga_SAS=0.2519;AF=0.3413;AF_popmax=0.4251;AF_male=0.3339;AF_female=0.3506;AF_raw=0.3412;AF_afr=0.1892;AF_sas=.;AF_amr=0.2210;AF_eas=0.0834;AF_nfe=0.4251;AF_fin=0.4778;AF_asj=0.2931;AF_oth=0.4094;non_topmed_AF_popmax=0.4334;non_neuro_AF_popmax=0.4228;non_cancer_AF_popmax=.;controls_AF_popmax=0.4487;Kaviar_AF=0.322059;Kaviar_AC=49791;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875789;ALLELE_END;VINYL_score=1 GT 1|1 0|1 0|1 0|1 1|0 1|0 1|1 1|1 1|1 0|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|1 0|1 0|1 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 +2 179650932 rs556233223 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20063;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556233223;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.373e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.366185;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654032 rs67491807 T G 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=17007;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs67491807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0108;AF_popmax=0.0136;AF_male=0.0095;AF_female=0.0125;AF_raw=0.0109;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0256;AF_asj=0.0069;AF_oth=0.0120;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0134;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;Kaviar_AF=0.0019275;Kaviar_AC=298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.596408;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654121 rs551313395 G T 100 PASS AC=16;AF=0.0644968;AN=214;NS=2504;DP=17258;EAS_AF=0.1121;AMR_AF=0.0879;AFR_AF=0.0295;EUR_AF=0.1083;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon12:c.C1904A:p.T635N,TTN:NM_133432:exon12:c.C1904A:p.T635N,TTN:NM_133437:exon12:c.C1904A:p.T635N,TTN:NM_001256850:exon13:c.C2042A:p.T681N,TTN:NM_001267550:exon13:c.C2042A:p.T681N,TTN:NM_133378:exon13:c.C2042A:p.T681N,TTN:NM_133379:exon13:c.C2042A:p.T681N;1000g2015aug_all=0.0644968;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551313395;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_rankscore=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.393;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=-2.1;PROVEAN_converted_rankscore=0.673;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.088;MetaSVM_score=-0.967;MetaSVM_rankscore=0.378;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_rankscore=0.429;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.083;REVEL_rankscore=0.247;MutPred_score=0.453;MutPred_rankscore=0.517;CADD_raw=1.430;CADD_raw_rankscore=0.235;CADD_phred=12.95;DANN_score=0.843;DANN_rankscore=0.147;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_rankscore=0.617;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.012;Eigen-PC-raw=0.143;GenoCanyon_score=0.024;GenoCanyon_score_rankscore=0.136;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=3.77;GERP++_RS_rankscore=0.423;phyloP100way_vertebrate=2.032;phyloP100way_vertebrate_rankscore=0.405;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.897;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.983;phastCons20way_mammalian_rankscore=0.502;SiPhy_29way_logOdds=11.263;SiPhy_29way_logOdds_rankscore=0.481;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.935e-05;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0020892;Kaviar_AC=323;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000728|hsa-miR-375-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.519624;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654136 rs564526675 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17616;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon12:c.G1889T:p.R630I,TTN:NM_133432:exon12:c.G1889T:p.R630I,TTN:NM_133437:exon12:c.G1889T:p.R630I,TTN:NM_001256850:exon13:c.G2027T:p.R676I,TTN:NM_001267550:exon13:c.G2027T:p.R676I,TTN:NM_133378:exon13:c.G2027T:p.R676I,TTN:NM_133379:exon13:c.G2027T:p.R676I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564526675;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.371;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.229;Polyphen2_HVAR_rankscore=0.541;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.882;MutationTaster_converted_rankscore=0.460;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.7;FATHMM_converted_rankscore=0.515;FATHMM_pred=T;PROVEAN_score=-3.84;PROVEAN_converted_rankscore=0.931;PROVEAN_pred=D;VEST3_score=0.415;VEST3_rankscore=0.701;MetaSVM_score=-0.675;MetaSVM_rankscore=0.616;MetaSVM_pred=T;MetaLR_score=0.186;MetaLR_rankscore=0.536;MetaLR_pred=T;M-CAP_score=0.042;M-CAP_rankscore=0.604;M-CAP_pred=D;REVEL_score=0.222;REVEL_rankscore=0.523;MutPred_score=0.575;MutPred_rankscore=0.700;CADD_raw=3.304;CADD_raw_rankscore=0.456;CADD_phred=22.9;DANN_score=0.932;DANN_rankscore=0.222;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.512;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.302;Eigen-PC-raw=0.404;GenoCanyon_score=0.789;GenoCanyon_score_rankscore=0.240;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.02;GERP++_RS_rankscore=0.666;phyloP100way_vertebrate=0.736;phyloP100way_vertebrate_rankscore=0.256;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=13.668;SiPhy_29way_logOdds_rankscore=0.617;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.736727;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179654695 rs190935632 C G 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=17231;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190935632;CLNALLELEID=55876;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.723088;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179656963 rs72647855 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18186;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0024;AF_male=0.0006;AF_female=0.0011;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000718;Kaviar_AC=111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.528760;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179656977 rs72647853 A C 100 PASS AC=3;AF=0.00958466;AN=214;NS=2504;DP=18353;EAS_AF=0.0159;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.0123;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647853;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0078;AF_popmax=0.0103;AF_male=0.0074;AF_female=0.0083;AF_raw=0.0078;AF_afr=0.0014;AF_sas=.;AF_amr=0.0094;AF_eas=0.0103;AF_nfe=0.0089;AF_fin=0.0179;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0016753;Kaviar_AC=259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.421752;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179656993 rs72647852 A C 100 PASS 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GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179658310 rs55896543 T C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=20010;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55896543;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0114;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0027;AF=0.0060;AF_popmax=0.0107;AF_male=0.0050;AF_female=0.0071;AF_raw=0.0060;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0037;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0201;Kaviar_AF=0.0038421;Kaviar_AC=594;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.229434;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659064 rs72647850 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21337;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659110 rs144043280 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19741;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144043280;CLNALLELEID=141487;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041138;Kaviar_AC=636;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659334 rs2291303 A C 100 PASS AC=2;AF=0.0934505;AN=214;NS=2504;DP=21490;EAS_AF=0.1171;AMR_AF=0.0591;AFR_AF=0.1982;EUR_AF=0.0089;SAS_AF=0.0389;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0934505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291303;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0617;AF_popmax=0.1647;AF_male=0.0618;AF_female=0.0615;AF_raw=0.0621;AF_afr=0.1647;AF_sas=.;AF_amr=0.0519;AF_eas=0.1242;AF_nfe=0.0107;AF_fin=0.0207;AF_asj=0.0034;AF_oth=0.0258;non_topmed_AF_popmax=0.1655;non_neuro_AF_popmax=0.1745;non_cancer_AF_popmax=.;controls_AF_popmax=0.1695;Kaviar_AF=0.0062612;Kaviar_AC=968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.484814;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659722 rs146772214 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20517;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C1172T:p.A391V,TTN:NM_001267550:exon7:c.C1172T:p.A391V,TTN:NM_003319:exon7:c.C1172T:p.A391V,TTN:NM_133378:exon7:c.C1172T:p.A391V,TTN:NM_133379:exon7:c.C1172T:p.A391V,TTN:NM_133432:exon7:c.C1172T:p.A391V,TTN:NM_133437:exon7:c.C1172T:p.A391V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146772214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.335;Polyphen2_HDIV_rankscore=0.478;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_rankscore=0.413;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.96;PROVEAN_converted_rankscore=0.532;PROVEAN_pred=N;VEST3_score=0.215;VEST3_rankscore=0.574;MetaSVM_score=-0.847;MetaSVM_rankscore=0.522;MetaSVM_pred=T;MetaLR_score=0.191;MetaLR_rankscore=0.543;MetaLR_pred=T;M-CAP_score=0.028;M-CAP_rankscore=0.513;M-CAP_pred=D;REVEL_score=0.179;REVEL_rankscore=0.454;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.255;CADD_raw_rankscore=0.332;CADD_phred=17.87;DANN_score=0.971;DANN_rankscore=0.319;fathmm-MKL_coding_score=0.323;fathmm-MKL_coding_rankscore=0.243;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.188;Eigen-PC-raw=-0.148;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.366;integrated_fitCons_score=0.743;integrated_fitCons_score_rankscore=0.982;integrated_confidence_value=0;GERP++_RS=5.08;GERP++_RS_rankscore=0.682;phyloP100way_vertebrate=1.216;phyloP100way_vertebrate_rankscore=0.318;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.024;phastCons100way_vertebrate_rankscore=0.198;phastCons20way_mammalian=0.042;phastCons20way_mammalian_rankscore=0.158;SiPhy_29way_logOdds=10.650;SiPhy_29way_logOdds_rankscore=0.446;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.709739;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659757 rs55972547 T C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=20309;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.A1137G:p.R379R,TTN:NM_001267550:exon7:c.A1137G:p.R379R,TTN:NM_003319:exon7:c.A1137G:p.R379R,TTN:NM_133378:exon7:c.A1137G:p.R379R,TTN:NM_133379:exon7:c.A1137G:p.R379R,TTN:NM_133432:exon7:c.A1137G:p.R379R,TTN:NM_133437:exon7:c.A1137G:p.R379R;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55972547;CLNALLELEID=55762;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.603759;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659815 rs56128843 C G 100 PASS AC=2;AF=0.0119808;AN=214;NS=2504;DP=21159;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0197;EUR_AF=0.003;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.G1079C:p.R360T,TTN:NM_001267550:exon7:c.G1079C:p.R360T,TTN:NM_003319:exon7:c.G1079C:p.R360T,TTN:NM_133378:exon7:c.G1079C:p.R360T,TTN:NM_133379:exon7:c.G1079C:p.R360T,TTN:NM_133432:exon7:c.G1079C:p.R360T,TTN:NM_133437:exon7:c.G1079C:p.R360T;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56128843;CLNALLELEID=55752;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.202;SIFT_converted_rankscore=0.405;SIFT_pred=T;Polyphen2_HDIV_score=0.049;Polyphen2_HDIV_rankscore=0.379;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.338;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_converted_rankscore=0.246;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.05;FATHMM_converted_rankscore=0.619;FATHMM_pred=T;PROVEAN_score=-2.16;PROVEAN_converted_rankscore=0.555;PROVEAN_pred=N;VEST3_score=0.249;VEST3_rankscore=0.594;MetaSVM_score=-1.012;MetaSVM_rankscore=0.264;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.329;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.453;CADD_raw_rankscore=0.356;CADD_phred=19.16;DANN_score=0.876;DANN_rankscore=0.168;fathmm-MKL_coding_score=0.939;fathmm-MKL_coding_rankscore=0.591;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.141;Eigen-PC-raw=0.051;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.353;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.37;GERP++_RS_rankscore=0.517;phyloP100way_vertebrate=1.105;phyloP100way_vertebrate_rankscore=0.305;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=6.433;SiPhy_29way_logOdds_rankscore=0.209;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0156;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0053;AF_popmax=0.0150;AF_male=0.0053;AF_female=0.0052;AF_raw=0.0053;AF_afr=0.0150;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0136;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0056015;Kaviar_AC=866;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732317;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659912 rs16866538 G A 100 PASS AC=12;AF=0.236022;AN=214;NS=2504;DP=20301;EAS_AF=0.5883;AMR_AF=0.098;AFR_AF=0.1974;EUR_AF=0.0477;SAS_AF=0.2168;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C982T:p.R328C,TTN:NM_001267550:exon7:c.C982T:p.R328C,TTN:NM_003319:exon7:c.C982T:p.R328C,TTN:NM_133378:exon7:c.C982T:p.R328C,TTN:NM_133379:exon7:c.C982T:p.R328C,TTN:NM_133432:exon7:c.C982T:p.R328C,TTN:NM_133437:exon7:c.C982T:p.R328C;1000g2015aug_all=0.236022;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs16866538;CLNALLELEID=56867;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.08;Polyphen2_HDIV_rankscore=0.418;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.330;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.7;FATHMM_converted_rankscore=0.729;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_converted_rankscore=0.885;PROVEAN_pred=D;VEST3_score=0.296;VEST3_rankscore=0.798;MetaSVM_score=-0.891;MetaSVM_rankscore=0.488;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.417;REVEL_rankscore=0.730;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.207;CADD_raw_rankscore=0.326;CADD_phred=17.56;DANN_score=0.678;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.712;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.130;Eigen-PC-raw=-0.077;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.3;GERP++_RS_rankscore=0.746;phyloP100way_vertebrate=5.448;phyloP100way_vertebrate_rankscore=0.661;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.086;phastCons20way_mammalian_rankscore=0.183;SiPhy_29way_logOdds=11.731;SiPhy_29way_logOdds_rankscore=0.508;Interpro_domain=.;GTEx_V6p_gene=ENSG00000079150.13;GTEx_V6p_tissue=Cells_Transformed_fibroblasts;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0531;ExAC_nontcga_ALL=0.1288;ExAC_nontcga_AFR=0.1680;ExAC_nontcga_AMR=0.1040;ExAC_nontcga_EAS=0.5992;ExAC_nontcga_FIN=0.0490;ExAC_nontcga_NFE=0.0512;ExAC_nontcga_OTH=0.0692;ExAC_nontcga_SAS=0.1918;AF=0.1116;AF_popmax=0.5792;AF_male=0.1168;AF_female=0.1052;AF_raw=0.1119;AF_afr=0.1686;AF_sas=.;AF_amr=0.0887;AF_eas=0.5792;AF_nfe=0.0542;AF_fin=0.0391;AF_asj=0.0414;AF_oth=0.0701;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5792;non_cancer_AF_popmax=.;controls_AF_popmax=0.5998;Kaviar_AF=0.118575;Kaviar_AC=18332;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.284283;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179659928 rs551244224 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20378;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.G966T:p.R322S,TTN:NM_001267550:exon7:c.G966T:p.R322S,TTN:NM_003319:exon7:c.G966T:p.R322S,TTN:NM_133378:exon7:c.G966T:p.R322S,TTN:NM_133379:exon7:c.G966T:p.R322S,TTN:NM_133432:exon7:c.G966T:p.R322S,TTN:NM_133437:exon7:c.G966T:p.R322S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551244224;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.210;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.887;MutationTaster_converted_rankscore=0.279;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.212;VEST3_rankscore=0.263;MetaSVM_score=-0.977;MetaSVM_rankscore=0.357;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.408;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.609;M-CAP_pred=D;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=0.279;MutPred_rankscore=0.234;CADD_raw=1.766;CADD_raw_rankscore=0.273;CADD_phred=14.79;DANN_score=0.756;DANN_rankscore=0.108;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.687;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.477;Eigen-PC-raw=-0.339;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.365;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=4.33;GERP++_RS_rankscore=0.509;phyloP100way_vertebrate=2.390;phyloP100way_vertebrate_rankscore=0.438;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.056;phastCons20way_mammalian_rankscore=0.168;SiPhy_29way_logOdds=7.156;SiPhy_29way_logOdds_rankscore=0.247;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.71e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.204e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.534258;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179660030 rs3754950 T C 100 PASS AC=4;AF=0.101837;AN=214;NS=2504;DP=21323;EAS_AF=0.1171;AMR_AF=0.0605;AFR_AF=0.2057;EUR_AF=0.0129;SAS_AF=0.0665;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3754950;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0506;ExAC_nontcga_AFR=0.1747;ExAC_nontcga_AMR=0.0738;ExAC_nontcga_EAS=0.1273;ExAC_nontcga_FIN=0.0193;ExAC_nontcga_NFE=0.0143;ExAC_nontcga_OTH=0.0362;ExAC_nontcga_SAS=0.0649;AF=0.0656;AF_popmax=0.1749;AF_male=0.0661;AF_female=0.0650;AF_raw=0.0656;AF_afr=0.1749;AF_sas=.;AF_amr=0.0531;AF_eas=0.1256;AF_nfe=0.0125;AF_fin=0.0207;AF_asj=0.0103;AF_oth=0.0267;non_topmed_AF_popmax=0.1756;non_neuro_AF_popmax=0.1855;non_cancer_AF_popmax=.;controls_AF_popmax=0.1812;Kaviar_AF=0.0449283;Kaviar_AC=6946;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179665231 rs149574119 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21124;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon4:c.C474G:p.L158L,TTN:NM_001267550:exon4:c.C474G:p.L158L,TTN:NM_003319:exon4:c.C474G:p.L158L,TTN:NM_133378:exon4:c.C474G:p.L158L,TTN:NM_133379:exon4:c.C474G:p.L158L,TTN:NM_133432:exon4:c.C474G:p.L158L,TTN:NM_133437:exon4:c.C474G:p.L158L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149574119;CLNALLELEID=392443;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.771502;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179665279 rs56137037 G A 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19731;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon4:c.C426T:p.A142A,TTN:NM_001267550:exon4:c.C426T:p.A142A,TTN:NM_003319:exon4:c.C426T:p.A142A,TTN:NM_133378:exon4:c.C426T:p.A142A,TTN:NM_133379:exon4:c.C426T:p.A142A,TTN:NM_133432:exon4:c.C426T:p.A142A,TTN:NM_133437:exon4:c.C426T:p.A142A;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56137037;CLNALLELEID=56209;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0022;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0241;AF=0.0010;AF_popmax=0.0017;AF_male=0.0009;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041073;Kaviar_AC=635;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.821198;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179666830 rs68003004 G A 100 PASS AC=19;AF=0.0313498;AN=214;NS=2504;DP=18023;EAS_AF=0;AMR_AF=0.0591;AFR_AF=0.0023;EUR_AF=0.0905;SAS_AF=0.0225;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0313498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs68003004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0849;ExAC_nontcga_ALL=0.0561;ExAC_nontcga_AFR=0.0135;ExAC_nontcga_AMR=0.0416;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0715;ExAC_nontcga_NFE=0.0817;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0257;AF=0.0552;AF_popmax=0.0790;AF_male=0.0543;AF_female=0.0562;AF_raw=0.0552;AF_afr=0.0145;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0790;AF_fin=0.0717;AF_asj=0.0660;AF_oth=0.0654;non_topmed_AF_popmax=0.0808;non_neuro_AF_popmax=0.0793;non_cancer_AF_popmax=.;controls_AF_popmax=0.0802;Kaviar_AF=0.0581752;Kaviar_AC=8994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 +2 179666956 rs201089861 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=2855;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.C204T:p.P68P,TTN:NM_001267550:exon3:c.C204T:p.P68P,TTN:NM_003319:exon3:c.C204T:p.P68P,TTN:NM_133378:exon3:c.C204T:p.P68P,TTN:NM_133379:exon3:c.C204T:p.P68P,TTN:NM_133432:exon3:c.C204T:p.P68P,TTN:NM_133437:exon3:c.C204T:p.P68P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201089861;CLNALLELEID=258185;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.711e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.365e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.685325;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179666982 rs35683768 C A 100 PASS AC=3;AF=0.0289537;AN=214;NS=2504;DP=8936;EAS_AF=0.0159;AMR_AF=0.0202;AFR_AF=0.0719;EUR_AF=0.0089;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.G178T:p.D60Y,TTN:NM_001267550:exon3:c.G178T:p.D60Y,TTN:NM_003319:exon3:c.G178T:p.D60Y,TTN:NM_133378:exon3:c.G178T:p.D60Y,TTN:NM_133379:exon3:c.G178T:p.D60Y,TTN:NM_133432:exon3:c.G178T:p.D60Y,TTN:NM_133437:exon3:c.G178T:p.D60Y;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35683768;CLNALLELEID=55852;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.8;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.940;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.87;FATHMM_converted_rankscore=0.464;FATHMM_pred=T;PROVEAN_score=-5.57;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST3_score=0.508;VEST3_rankscore=0.630;MetaSVM_score=-0.910;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.100;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.344;REVEL_rankscore=0.670;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.822;CADD_raw_rankscore=0.516;CADD_phred=23.4;DANN_score=0.946;DANN_rankscore=0.246;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.741;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.789;Eigen-PC-raw=0.789;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=6.170;phyloP100way_vertebrate_rankscore=0.716;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.919;SiPhy_29way_logOdds_rankscore=0.971;Interpro_domain=Immunoglobulin_I-set|Immunoglobulin_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0059;ExAC_nontcga_ALL=0.0142;ExAC_nontcga_AFR=0.0690;ExAC_nontcga_AMR=0.0101;ExAC_nontcga_EAS=0.0082;ExAC_nontcga_FIN=0.0157;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0142;AF=0.0243;AF_popmax=0.0685;AF_male=0.0244;AF_female=0.0241;AF_raw=0.0244;AF_afr=0.0685;AF_sas=.;AF_amr=0.0118;AF_eas=0.0096;AF_nfe=0.0051;AF_fin=0.0138;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0679;non_neuro_AF_popmax=0.0685;non_cancer_AF_popmax=.;controls_AF_popmax=0.0677;Kaviar_AF=0.0131499;Kaviar_AC=2033;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.658872;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179667090 rs3816849 C T 100 PASS AC=107;AF=0.703474;AN=214;NS=2504;DP=20347;EAS_AF=0.8571;AMR_AF=0.6873;AFR_AF=0.7262;EUR_AF=0.5616;SAS_AF=0.6718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.703474;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816849;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5384;ExAC_nontcga_ALL=0.6566;ExAC_nontcga_AFR=0.7270;ExAC_nontcga_AMR=0.7996;ExAC_nontcga_EAS=0.8815;ExAC_nontcga_FIN=0.6824;ExAC_nontcga_NFE=0.5710;ExAC_nontcga_OTH=0.655;ExAC_nontcga_SAS=0.6783;AF=0.6361;AF_popmax=0.8798;AF_male=0.6350;AF_female=0.6375;AF_raw=0.6360;AF_afr=0.7183;AF_sas=.;AF_amr=0.7347;AF_eas=0.8798;AF_nfe=0.5620;AF_fin=0.6547;AF_asj=0.4138;AF_oth=0.6044;non_topmed_AF_popmax=0.8781;non_neuro_AF_popmax=0.8798;non_cancer_AF_popmax=.;controls_AF_popmax=0.8993;Kaviar_AF=0.602754;Kaviar_AC=93187;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.038438;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|1 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|1 0|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 +2 179669199 rs148127052 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=21922;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148127052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0013;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0020;AF_fin=0.0006;AF_asj=0.0069;AF_oth=0.0028;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0016905;Kaviar_AC=44;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.941845;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179669227 rs3830329 CTGGAG C 100 PASS AC=2;AF=0.0628994;AN=214;NS=2504;DP=22425;EAS_AF=0.1171;AMR_AF=0.0447;AFR_AF=0.09;EUR_AF=0.0089;SAS_AF=0.0389;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0628994;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3830329;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0086;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0374;AF_popmax=0.1237;AF_male=0.0377;AF_female=0.0371;AF_raw=0.0375;AF_afr=0.0787;AF_sas=.;AF_amr=0.0450;AF_eas=0.1237;AF_nfe=0.0105;AF_fin=0.0211;AF_asj=0.0035;AF_oth=0.0203;non_topmed_AF_popmax=0.1229;non_neuro_AF_popmax=0.1237;non_cancer_AF_popmax=.;controls_AF_popmax=0.1288;Kaviar_AF=0.0008021;Kaviar_AC=124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.987319,99.153827;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 179669244 rs200033767 G GA 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=21054;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0.0164;AA=AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200033767;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0048;ExAC_nontcga_EAS=0.0040;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0060;ExAC_nontcga_OTH=0.0081;ExAC_nontcga_SAS=0.0185;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0035;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000629547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.207101;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220283259 rs1318299 A G 100 PASS AC=214;AF=0.886182;AN=214;NS=2504;DP=10488;EAS_AF=0.999;AMR_AF=0.9611;AFR_AF=0.615;EUR_AF=0.9901;SAS_AF=0.9765;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.A75G:p.P25P;1000g2015aug_all=0.886182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1318299;CLNALLELEID=44666;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9877;ExAC_nontcga_ALL=0.9657;ExAC_nontcga_AFR=0.6648;ExAC_nontcga_AMR=0.9821;ExAC_nontcga_EAS=0.9996;ExAC_nontcga_FIN=0.9978;ExAC_nontcga_NFE=0.9891;ExAC_nontcga_OTH=0.9759;ExAC_nontcga_SAS=0.9747;AF=0.8985;AF_popmax=1;AF_male=0.8962;AF_female=0.9013;AF_raw=0.8982;AF_afr=0.6581;AF_sas=.;AF_amr=0.9835;AF_eas=1;AF_nfe=0.9895;AF_fin=0.9971;AF_asj=0.9828;AF_oth=0.9770;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.877634;Kaviar_AC=135684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0606618::-0.600973;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.848673;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220283277 rs2017800 T C 100 PASS AC=214;AF=0.866014;AN=214;NS=2504;DP=10522;EAS_AF=0.999;AMR_AF=0.9524;AFR_AF=0.5431;EUR_AF=0.9901;SAS_AF=0.9765;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T93C:p.S31S;1000g2015aug_all=0.866014;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2017800;CLNALLELEID=44667;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9880;ExAC_nontcga_ALL=0.9616;ExAC_nontcga_AFR=0.6064;ExAC_nontcga_AMR=0.9795;ExAC_nontcga_EAS=0.9997;ExAC_nontcga_FIN=0.9977;ExAC_nontcga_NFE=0.9886;ExAC_nontcga_OTH=0.9770;ExAC_nontcga_SAS=0.9748;AF=0.8820;AF_popmax=1;AF_male=0.8797;AF_female=0.8849;AF_raw=0.8816;AF_afr=0.6005;AF_sas=.;AF_amr=0.9811;AF_eas=1;AF_nfe=0.9892;AF_fin=0.9974;AF_asj=0.9828;AF_oth=0.9687;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0606618::-0.563276;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.863755;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220283591 rs397516695 T A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=11113;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T407A:p.L136H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516695;CLNALLELEID=53428;CLNDN=Generalized_hypotonia|Neonatal_hypotonia|Restrictive_ventilatory_defect|Respiratory_distress|Neonatal_respiratory_distress|Respiratory_insufficiency_due_to_muscle_weakness|Muscular_Diseases|Proximal_muscle_weakness|Skeletal_myopathy|Pulmonary_alveolar_proteinosis|Interstitial_pulmonary_abnormality|Congenital_peripheral_neuropathy|Proximal_muscle_weakness_in_upper_limbs|Infantile_axial_hypotonia|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001319,MedGen:C2267233|Human_Phenotype_Ontology:HP:0002091,MedGen:C3277226|Human_Phenotype_Ontology:HP:0002098,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|Human_Phenotype_Ontology:HP:0002747,MedGen:C3806467|Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003701,MedGen:C0221629|Human_Phenotype_Ontology:HP:0003756,MedGen:C1533847,Orphanet:ORPHA98472|Human_Phenotype_Ontology:HP:0006517,MedGen:C0034050,SNOMED_CT:10501004|Human_Phenotype_Ontology:HP:0006530,MedGen:C0206062,Orphanet:ORPHA182095|Human_Phenotype_Ontology:HP:0006903,MedGen:C4024967|Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.443;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.495;MutationTaster_pred=D;MutationAssessor_score=4.605;MutationAssessor_score_rankscore=0.993;MutationAssessor_pred=H;FATHMM_score=-3.81;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-6.23;PROVEAN_converted_rankscore=0.905;PROVEAN_pred=D;VEST3_score=0.903;VEST3_rankscore=0.893;MetaSVM_score=1.085;MetaSVM_rankscore=0.991;MetaSVM_pred=D;MetaLR_score=0.960;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.446;M-CAP_rankscore=0.943;M-CAP_pred=D;REVEL_score=0.965;REVEL_rankscore=0.995;MutPred_score=0.797;MutPred_rankscore=0.917;CADD_raw=6.000;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.986;DANN_rankscore=0.436;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.844;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.995;Eigen-PC-raw=0.849;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=7.836;phyloP100way_vertebrate_rankscore=0.849;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.463;SiPhy_29way_logOdds_rankscore=0.669;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.925e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0002;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934248;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220283592 rs111828114 C T 100 PASS AC=9;AF=0.0123802;AN=214;NS=2504;DP=11251;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0457;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.C408T:p.L136L;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111828114;CLNALLELEID=53429;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0402;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0410;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1170;ExAC_nontcga_NFE=0.0823;ExAC_nontcga_OTH=0.0380;ExAC_nontcga_SAS=0.0064;AF=0.0304;AF_popmax=0.0432;AF_male=0.0285;AF_female=0.0328;AF_raw=0.0305;AF_afr=0.0062;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0432;AF_fin=0.0455;AF_asj=0.0310;AF_oth=0.0423;non_topmed_AF_popmax=0.0463;non_neuro_AF_popmax=0.0434;non_cancer_AF_popmax=.;controls_AF_popmax=0.0497;Kaviar_AF=0.0179817;Kaviar_AC=2780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934248;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +2 220283826 rs907677 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=12715;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs907677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9999;AF_popmax=1;AF_male=0.9999;AF_female=0.9999;AF_raw=0.9999;AF_afr=0.9998;AF_sas=.;AF_amr=1;AF_eas=0.9994;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.92777;Kaviar_AC=24148;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.692797;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +2 220284779 rs12991025 C T 100 PASS AC=133;AF=0.529353;AN=214;NS=2504;DP=15923;EAS_AF=0.8155;AMR_AF=0.6153;AFR_AF=0.0696;EUR_AF=0.6243;SAS_AF=0.6973;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12991025;CLNALLELEID=250577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6303;ExAC_nontcga_ALL=0.6195;ExAC_nontcga_AFR=0.1540;ExAC_nontcga_AMR=0.6767;ExAC_nontcga_EAS=0.8131;ExAC_nontcga_FIN=0.7292;ExAC_nontcga_NFE=0.6272;ExAC_nontcga_OTH=0.6153;ExAC_nontcga_SAS=0.6753;AF=0.5280;AF_popmax=0.8037;AF_male=0.5200;AF_female=0.5381;AF_raw=0.5280;AF_afr=0.1647;AF_sas=.;AF_amr=0.6427;AF_eas=0.8037;AF_nfe=0.6462;AF_fin=0.7247;AF_asj=0.5448;AF_oth=0.6439;non_topmed_AF_popmax=0.8047;non_neuro_AF_popmax=0.8037;non_cancer_AF_popmax=.;controls_AF_popmax=0.8081;Kaviar_AF=0.601318;Kaviar_AC=92965;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.513007;ALLELE_END;VINYL_score=2 GT 1|1 1|0 0|0 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 0|0 0|1 0|1 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|1 0|0 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|0 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|1 0|1 0|0 0|0 0|1 +2 220284873 rs144261171 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18567;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon2:c.G635A:p.R212Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144261171;CLNALLELEID=173631;CLNDN=Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.061;SIFT_converted_rankscore=0.371;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.979;Polyphen2_HVAR_rankscore=0.728;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.419;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=3.14;MutationAssessor_score_rankscore=0.885;MutationAssessor_pred=M;FATHMM_score=-2.97;FATHMM_converted_rankscore=0.920;FATHMM_pred=D;PROVEAN_score=-3.45;PROVEAN_converted_rankscore=0.675;PROVEAN_pred=D;VEST3_score=0.842;VEST3_rankscore=0.829;MetaSVM_score=1.016;MetaSVM_rankscore=0.975;MetaSVM_pred=D;MetaLR_score=0.892;MetaLR_rankscore=0.964;MetaLR_pred=D;M-CAP_score=0.311;M-CAP_rankscore=0.912;M-CAP_pred=D;REVEL_score=0.847;REVEL_rankscore=0.953;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.700;CADD_raw_rankscore=0.916;CADD_phred=32;DANN_score=1.000;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.896;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.922;Eigen-PC-raw=0.839;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.56;GERP++_RS_rankscore=0.555;phyloP100way_vertebrate=9.864;phyloP100way_vertebrate_rankscore=0.984;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=17.520;SiPhy_29way_logOdds_rankscore=0.876;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.371e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830802;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220284876 rs41272699 C T 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=18555;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0189;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon2:c.C638T:p.A213V;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41272699;CLNALLELEID=53432;CLNDN=Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Gene:1732,Human_Phenotype_Ontology:HP:0000776,MeSH:D065630,MedGen:C0235833,OMIM:142340,Orphanet:ORPHA2140|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_rankscore=0.473;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_rankscore=0.433;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.981;MutationTaster_converted_rankscore=0.397;MutationTaster_pred=D;MutationAssessor_score=1.475;MutationAssessor_score_rankscore=0.372;MutationAssessor_pred=L;FATHMM_score=-2.49;FATHMM_converted_rankscore=0.892;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.227;VEST3_rankscore=0.278;MetaSVM_score=0.004;MetaSVM_rankscore=0.824;MetaSVM_pred=D;MetaLR_score=0.405;MetaLR_rankscore=0.755;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.362;REVEL_rankscore=0.686;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.554;CADD_raw_rankscore=0.755;CADD_phred=26.4;DANN_score=0.999;DANN_rankscore=0.973;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.552;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.165;Eigen-PC-raw=0.179;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.67;GERP++_RS_rankscore=0.411;phyloP100way_vertebrate=1.514;phyloP100way_vertebrate_rankscore=0.352;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.803;phastCons100way_vertebrate_rankscore=0.295;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=14.599;SiPhy_29way_logOdds_rankscore=0.679;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0534;dbscSNV_RF_SCORE=0.296;esp6500siv2_ea=0.0137;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0053;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0088;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0032;AF=0.0099;AF_popmax=0.0145;AF_male=0.0096;AF_female=0.0102;AF_raw=0.0099;AF_afr=0.0029;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0145;AF_fin=0.0109;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0106014;Kaviar_AC=1639;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.830802;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285054 rs201945924 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19479;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon3:c.A721G:p.K241E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201945924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.503;MutationTaster_pred=D;MutationAssessor_score=2.885;MutationAssessor_score_rankscore=0.838;MutationAssessor_pred=M;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-3.6;PROVEAN_converted_rankscore=0.693;PROVEAN_pred=D;VEST3_score=0.753;VEST3_rankscore=0.748;MetaSVM_score=0.466;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.204;M-CAP_rankscore=0.870;M-CAP_pred=D;REVEL_score=0.790;REVEL_rankscore=0.932;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.166;CADD_raw_rankscore=0.851;CADD_phred=28.5;DANN_score=0.999;DANN_rankscore=0.948;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.956;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.765;Eigen-PC-raw=0.688;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=13.770;SiPhy_29way_logOdds_rankscore=0.623;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934923;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285088 rs151226355 C T 100 PASS AC=5;AF=0.00419329;AN=214;NS=2504;DP=19765;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0109;SAS_AF=0.0041;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151226355;CLNALLELEID=53436;CLNDN=Myofibrillar_myopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0096;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0088;AF=0.0058;AF_popmax=0.0094;AF_male=0.0066;AF_female=0.0047;AF_raw=0.0058;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0093854;Kaviar_AC=1451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.852853;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +2 220285182 rs41272701 C A 100 PASS AC=7;AF=0.0127796;AN=214;NS=2504;DP=18343;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0437;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41272701;CLNALLELEID=250578;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0521;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.0069;ExAC_nontcga_AMR=0.0142;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0521;ExAC_nontcga_NFE=0.0509;ExAC_nontcga_OTH=0.0406;ExAC_nontcga_SAS=0.0231;AF=0.0341;AF_popmax=0.0486;AF_male=0.0328;AF_female=0.0358;AF_raw=0.0342;AF_afr=0.0090;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0486;AF_fin=0.0443;AF_asj=0.0586;AF_oth=0.0527;non_topmed_AF_popmax=0.0477;non_neuro_AF_popmax=0.0499;non_cancer_AF_popmax=.;controls_AF_popmax=0.0484;Kaviar_AF=0.035517;Kaviar_AC=5491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.820483;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285273 rs150370918 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=20215;EAS_AF=0.002;AMR_AF=0.0245;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C792T:p.D264D;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150370918;CLNALLELEID=53438;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0393;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.369e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0248;AF_male=0.0012;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0009;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0247;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0036157;Kaviar_AC=559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917028;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285309 rs1058261 C T 100 PASS AC=81;AF=0.33746;AN=214;NS=2504;DP=21149;EAS_AF=0.1835;AMR_AF=0.3429;AFR_AF=0.475;EUR_AF=0.3648;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C828T:p.D276D;1000g2015aug_all=0.33746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1058261;CLNALLELEID=53439;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3555;ExAC_nontcga_ALL=0.3331;ExAC_nontcga_AFR=0.4465;ExAC_nontcga_AMR=0.3005;ExAC_nontcga_EAS=0.1863;ExAC_nontcga_FIN=0.2695;ExAC_nontcga_NFE=0.3600;ExAC_nontcga_OTH=0.3526;ExAC_nontcga_SAS=0.2989;AF=0.3514;AF_popmax=0.4304;AF_male=0.3569;AF_female=0.3446;AF_raw=0.3514;AF_afr=0.4304;AF_sas=.;AF_amr=0.3337;AF_eas=0.1946;AF_nfe=0.3420;AF_fin=0.2732;AF_asj=0.4207;AF_oth=0.3235;non_topmed_AF_popmax=0.4303;non_neuro_AF_popmax=0.4237;non_cancer_AF_popmax=.;controls_AF_popmax=0.4289;Kaviar_AF=0.336574;Kaviar_AC=52035;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.948048;ALLELE_END;VINYL_score=2 GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220285395 rs137945254 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19931;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137945254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.697e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.640491;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220285666 rs12920 G C 100 PASS AC=81;AF=0.33766;AN=214;NS=2504;DP=19718;EAS_AF=0.1835;AMR_AF=0.3444;AFR_AF=0.475;EUR_AF=0.3648;SAS_AF=0.2781;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon5:c.G1014C:p.L338L;1000g2015aug_all=0.33766;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12920;CLNALLELEID=53409;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3551;ExAC_nontcga_ALL=0.3387;ExAC_nontcga_AFR=0.4574;ExAC_nontcga_AMR=0.3066;ExAC_nontcga_EAS=0.1912;ExAC_nontcga_FIN=0.2791;ExAC_nontcga_NFE=0.3633;ExAC_nontcga_OTH=0.3589;ExAC_nontcga_SAS=0.3054;AF=0.3529;AF_popmax=0.4364;AF_male=0.3582;AF_female=0.3461;AF_raw=0.3531;AF_afr=0.4364;AF_sas=.;AF_amr=0.3322;AF_eas=0.1918;AF_nfe=0.3420;AF_fin=0.2728;AF_asj=0.4207;AF_oth=0.3238;non_topmed_AF_popmax=0.4364;non_neuro_AF_popmax=0.4305;non_cancer_AF_popmax=.;controls_AF_popmax=0.4347;Kaviar_AF=0.334828;Kaviar_AC=51765;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.935688;ALLELE_END;VINYL_score=2 GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220286142 rs1058284 G A 100 PASS AC=81;AF=0.333666;AN=214;NS=2504;DP=17124;EAS_AF=0.1835;AMR_AF=0.3429;AFR_AF=0.4607;EUR_AF=0.3648;SAS_AF=0.2781;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon6:c.G1104A:p.A368A;1000g2015aug_all=0.333666;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1058284;CLNALLELEID=53412;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3552;ExAC_nontcga_ALL=0.3332;ExAC_nontcga_AFR=0.4433;ExAC_nontcga_AMR=0.3011;ExAC_nontcga_EAS=0.1871;ExAC_nontcga_FIN=0.2696;ExAC_nontcga_NFE=0.3604;ExAC_nontcga_OTH=0.3516;ExAC_nontcga_SAS=0.2990;AF=0.3514;AF_popmax=0.4286;AF_male=0.3562;AF_female=0.3453;AF_raw=0.3512;AF_afr=0.4286;AF_sas=.;AF_amr=0.3353;AF_eas=0.1942;AF_nfe=0.3429;AF_fin=0.2732;AF_asj=0.4167;AF_oth=0.3235;non_topmed_AF_popmax=0.4284;non_neuro_AF_popmax=0.4226;non_cancer_AF_popmax=.;controls_AF_popmax=0.4270;Kaviar_AF=0.337221;Kaviar_AC=52135;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.929558;ALLELE_END;VINYL_score=2 GT 0|0 0|1 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 1|0 1|0 0|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|1 1|1 1|0 +2 220288562 rs200657337 C G 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=15227;EAS_AF=0.006;AMR_AF=0.0101;AFR_AF=0.0045;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200657337;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.796e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=3.706e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.009519;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +2 220290674 rs73991549 G A 100 PASS AC=1;AF=0.00978435;AN=214;NS=2504;DP=19604;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0325;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon9:c.G1375A:p.V459I;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73991549;CLNALLELEID=53419;CLNDN=Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.559;Polyphen2_HDIV_rankscore=0.365;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.132;Polyphen2_HVAR_rankscore=0.314;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.350;LRT_pred=N;MutationTaster_score=0.963;MutationTaster_converted_rankscore=0.383;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=-4.17;FATHMM_converted_rankscore=0.969;FATHMM_pred=D;PROVEAN_score=0.0;PROVEAN_converted_rankscore=0.070;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=0.157;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.415;MetaLR_rankscore=0.762;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.431;REVEL_rankscore=0.740;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.930;CADD_raw_rankscore=0.293;CADD_phred=15.77;DANN_score=0.841;DANN_rankscore=0.146;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.849;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.091;Eigen-PC-raw=0.218;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.625;integrated_fitCons_score_rankscore=0.396;integrated_confidence_value=0;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=7.240;phyloP100way_vertebrate_rankscore=0.775;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.877;phastCons20way_mammalian_rankscore=0.367;SiPhy_29way_logOdds=13.888;SiPhy_29way_logOdds_rankscore=0.631;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0312;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0007;AF=0.0087;AF_popmax=0.0306;AF_male=0.0089;AF_female=0.0084;AF_raw=0.0088;AF_afr=0.0306;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.496e-05;AF_fin=0.0006;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0308;non_neuro_AF_popmax=0.0312;non_cancer_AF_popmax=.;controls_AF_popmax=0.0313;Kaviar_AF=0.0029172;Kaviar_AC=451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.933336;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +3 8775589 rs1974763 C T 100 PASS AC=25;AF=0.0425319;AN=214;NS=2504;DP=15414;EAS_AF=0.006;AMR_AF=0.062;AFR_AF=0.0053;EUR_AF=0.1302;SAS_AF=0.0266;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C27T:p.L9L,CAV3:NM_033337:exon1:c.C27T:p.L9L;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1974763;CLNALLELEID=40376;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1248;ExAC_nontcga_ALL=0.0837;ExAC_nontcga_AFR=0.0227;ExAC_nontcga_AMR=0.0434;ExAC_nontcga_EAS=0.0013;ExAC_nontcga_FIN=0.1121;ExAC_nontcga_NFE=0.1268;ExAC_nontcga_OTH=0.0791;ExAC_nontcga_SAS=0.0273;AF=0.0879;AF_popmax=0.1252;AF_male=0.0866;AF_female=0.0895;AF_raw=0.0881;AF_afr=0.0247;AF_sas=.;AF_amr=0.0709;AF_eas=0.0019;AF_nfe=0.1252;AF_fin=0.1172;AF_asj=0.0621;AF_oth=0.1153;non_topmed_AF_popmax=0.1232;non_neuro_AF_popmax=0.1251;non_cancer_AF_popmax=.;controls_AF_popmax=0.1141;Kaviar_AF=0.0890609;Kaviar_AC=13769;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.041043;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8775661 rs1008642 C T 100 PASS AC=71;AF=0.371006;AN=214;NS=2504;DP=15192;EAS_AF=0.372;AMR_AF=0.3055;AFR_AF=0.621;EUR_AF=0.2684;SAS_AF=0.184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C99T:p.N33N,CAV3:NM_033337:exon1:c.C99T:p.N33N;1000g2015aug_all=0.371006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1008642;CLNALLELEID=40369;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2388;ExAC_nontcga_ALL=0.3021;ExAC_nontcga_AFR=0.5648;ExAC_nontcga_AMR=0.3319;ExAC_nontcga_EAS=0.3993;ExAC_nontcga_FIN=0.2995;ExAC_nontcga_NFE=0.2664;ExAC_nontcga_OTH=0.2988;ExAC_nontcga_SAS=0.2105;AF=0.3580;AF_popmax=0.5518;AF_male=0.3586;AF_female=0.3572;AF_raw=0.3585;AF_afr=0.5518;AF_sas=.;AF_amr=0.3290;AF_eas=0.4070;AF_nfe=0.2651;AF_fin=0.2976;AF_asj=0.3;AF_oth=0.2921;non_topmed_AF_popmax=0.5519;non_neuro_AF_popmax=0.5554;non_cancer_AF_popmax=.;controls_AF_popmax=0.5509;Kaviar_AF=0.292357;Kaviar_AC=45199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.931840;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|1 0|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|1 0|0 1|1 1|1 0|0 1|0 1|0 0|0 1|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 1|1 1|0 0|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 1|0 1|1 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 1|0 +3 8775702 rs11922879 G A 100 PASS AC=4;AF=0.076877;AN=214;NS=2504;DP=13589;EAS_AF=0.0089;AMR_AF=0.0476;AFR_AF=0.1823;EUR_AF=0.0517;SAS_AF=0.0511;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11922879;CLNALLELEID=40383;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0499;ExAC_nontcga_ALL=0.0566;ExAC_nontcga_AFR=0.1703;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0020;ExAC_nontcga_FIN=0.0778;ExAC_nontcga_NFE=0.0558;ExAC_nontcga_OTH=0.0599;ExAC_nontcga_SAS=0.0424;AF=0.0820;AF_popmax=0.1514;AF_male=0.0804;AF_female=0.0841;AF_raw=0.0822;AF_afr=0.1514;AF_sas=.;AF_amr=0.0427;AF_eas=0.0026;AF_nfe=0.0585;AF_fin=0.0683;AF_asj=0.0448;AF_oth=0.0586;non_topmed_AF_popmax=0.1521;non_neuro_AF_popmax=0.1572;non_cancer_AF_popmax=.;controls_AF_popmax=0.1534;Kaviar_AF=0.0510925;Kaviar_AC=7899;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8775724 rs151222758 G A 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=11066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151222758;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0021;AF=0.0009;AF_popmax=0.0059;AF_male=0.0009;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0012484;Kaviar_AC=193;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000676564|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8787164 rs139242554 AAGCGGGTGGCTTCTGTG A 100 PASS AC=27;AF=0.0461262;AN=214;NS=2504;DP=23490;EAS_AF=0.005;AMR_AF=0.0778;AFR_AF=0.0068;EUR_AF=0.1392;SAS_AF=0.0235;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0461262;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116840772;CLNALLELEID=40396;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0921;ExAC_nontcga_AFR=0.0236;ExAC_nontcga_AMR=0.0489;ExAC_nontcga_EAS=0.0016;ExAC_nontcga_FIN=0.1301;ExAC_nontcga_NFE=0.1399;ExAC_nontcga_OTH=0.0854;ExAC_nontcga_SAS=0.0298;AF=0.0957;AF_popmax=0.1362;AF_male=0.0946;AF_female=0.0971;AF_raw=0.0959;AF_afr=0.0256;AF_sas=.;AF_amr=0.0686;AF_eas=0.0038;AF_nfe=0.1362;AF_fin=0.1319;AF_asj=0.0759;AF_oth=0.1255;non_topmed_AF_popmax=0.1351;non_neuro_AF_popmax=0.1363;non_cancer_AF_popmax=.;controls_AF_popmax=0.1285;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.069285,98.419569;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8787189 rs57159780 G C 100 PASS AC=10;AF=0.0648962;AN=214;NS=2504;DP=18650;EAS_AF=0.0089;AMR_AF=0.0331;AFR_AF=0.1354;EUR_AF=0.0845;SAS_AF=0.0297;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0648962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57159780;CLNALLELEID=40397;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0891;ExAC_nontcga_ALL=0.0730;ExAC_nontcga_AFR=0.1312;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0039;ExAC_nontcga_FIN=0.1309;ExAC_nontcga_NFE=0.0874;ExAC_nontcga_OTH=0.0738;ExAC_nontcga_SAS=0.0378;AF=0.1003;AF_popmax=0.1309;AF_male=0.0962;AF_female=0.1055;AF_raw=0.1005;AF_afr=0.1309;AF_sas=.;AF_amr=0.0378;AF_eas=0.0103;AF_nfe=0.0933;AF_fin=0.1171;AF_asj=0.0690;AF_oth=0.0875;non_topmed_AF_popmax=0.1302;non_neuro_AF_popmax=0.1392;non_cancer_AF_popmax=.;controls_AF_popmax=0.1436;Kaviar_AF=0.0709823;Kaviar_AC=10974;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.102941::0.333437;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.419569;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 8787220 rs13087941 T C 100 PASS AC=38;AF=0.152955;AN=214;NS=2504;DP=18630;EAS_AF=0.0139;AMR_AF=0.1311;AFR_AF=0.2837;EUR_AF=0.2326;SAS_AF=0.0532;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F;1000g2015aug_all=0.152955;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13087941;CLNALLELEID=40377;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2410;ExAC_nontcga_ALL=0.1833;ExAC_nontcga_AFR=0.2933;ExAC_nontcga_AMR=0.0827;ExAC_nontcga_EAS=0.0054;ExAC_nontcga_FIN=0.2622;ExAC_nontcga_NFE=0.2366;ExAC_nontcga_OTH=0.1764;ExAC_nontcga_SAS=0.0667;AF=0.2429;AF_popmax=0.2891;AF_male=0.2376;AF_female=0.2495;AF_raw=0.2432;AF_afr=0.2891;AF_sas=.;AF_amr=0.1191;AF_eas=0.0141;AF_nfe=0.2470;AF_fin=0.2550;AF_asj=0.1414;AF_oth=0.2274;non_topmed_AF_popmax=0.2899;non_neuro_AF_popmax=0.2870;non_cancer_AF_popmax=.;controls_AF_popmax=0.2879;Kaviar_AF=0.188866;Kaviar_AC=29199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338850;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 +3 8787313 rs116840776 C G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=17961;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C216G:p.C72W,CAV3:NM_033337:exon2:c.C216G:p.C72W;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116840776;CLNALLELEID=23318;CLNDN=Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Rippling_muscle_disease_2|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832560|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.095;SIFT_converted_rankscore=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.496;Polyphen2_HDIV_rankscore=0.352;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.512;Polyphen2_HVAR_rankscore=0.462;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=2.535;MutationAssessor_score_rankscore=0.741;MutationAssessor_pred=M;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-6.17;PROVEAN_converted_rankscore=0.902;PROVEAN_pred=D;VEST3_score=0.943;VEST3_rankscore=0.957;MetaSVM_score=0.758;MetaSVM_rankscore=0.939;MetaSVM_pred=D;MetaLR_score=0.757;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.496;M-CAP_rankscore=0.951;M-CAP_pred=D;REVEL_score=0.773;REVEL_rankscore=0.925;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.285;CADD_raw_rankscore=0.574;CADD_phred=24.0;DANN_score=0.994;DANN_rankscore=0.638;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.428;integrated_fitCons_score_rankscore=0.059;integrated_confidence_value=0;GERP++_RS=3.76;GERP++_RS_rankscore=0.422;phyloP100way_vertebrate=1.131;phyloP100way_vertebrate_rankscore=0.308;phyloP20way_mammalian=0.042;phyloP20way_mammalian_rankscore=0.156;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.488;SiPhy_29way_logOdds_rankscore=0.494;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0011837;Kaviar_AC=183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.717448;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 8787330 rs72546668 C T 100 PASS AC=4;AF=0.00199681;AN=214;NS=2504;DP=17558;EAS_AF=0;AMR_AF=0;AFR_AF=0.0038;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C233T:p.T78M,CAV3:NM_033337:exon2:c.C233T:p.T78M;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72546668;CLNALLELEID=23332;CLNDN=Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.556;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.738;Polyphen2_HVAR_rankscore=0.538;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.455;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-0.83;PROVEAN_converted_rankscore=0.227;PROVEAN_pred=N;VEST3_score=0.8;VEST3_rankscore=0.789;MetaSVM_score=0.466;MetaSVM_rankscore=0.901;MetaSVM_pred=D;MetaLR_score=0.710;MetaLR_rankscore=0.900;MetaLR_pred=D;M-CAP_score=0.172;M-CAP_rankscore=0.850;M-CAP_pred=D;REVEL_score=0.654;REVEL_rankscore=0.872;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.085;CADD_raw_rankscore=0.548;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.914;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.572;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.304;Eigen-PC-raw=0.261;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.428;integrated_fitCons_score_rankscore=0.059;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=3.783;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.203;SiPhy_29way_logOdds_rankscore=0.818;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0048;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0004;AF=0.0030;AF_popmax=0.0047;AF_male=0.0029;AF_female=0.0031;AF_raw=0.0030;AF_afr=0.0038;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0049;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0028395;Kaviar_AC=439;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.578455;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12626019 rs3730297 G A 100 PASS AC=3;AF=0.00439297;AN=214;NS=2504;DP=19661;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon17:c.C1941T:p.V647V;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3730297;CLNALLELEID=53790;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0113;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0015;AF=0.0065;AF_popmax=0.0094;AF_male=0.0064;AF_female=0.0068;AF_raw=0.0066;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0075;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0088;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000252|hsa-miR-7-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.273534;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12626516 rs3729931 G A 100 PASS AC=92;AF=0.364617;AN=214;NS=2504;DP=19622;EAS_AF=0.0575;AMR_AF=0.4683;AFR_AF=0.6475;EUR_AF=0.3767;SAS_AF=0.2127;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.364617;GWAS=rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951;ORegAnno_REGULATORY_P=rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951;avsnp150=rs3729931;CLNALLELEID=49094;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3652;ExAC_nontcga_ALL=0.3479;ExAC_nontcga_AFR=0.6105;ExAC_nontcga_AMR=0.4931;ExAC_nontcga_EAS=0.0552;ExAC_nontcga_FIN=0.3658;ExAC_nontcga_NFE=0.3591;ExAC_nontcga_OTH=0.3631;ExAC_nontcga_SAS=0.1989;AF=0.4170;AF_popmax=0.6012;AF_male=0.4190;AF_female=0.4145;AF_raw=0.4175;AF_afr=0.6012;AF_sas=.;AF_amr=0.4257;AF_eas=0.0450;AF_nfe=0.3588;AF_fin=0.3898;AF_asj=0.3931;AF_oth=0.3915;non_topmed_AF_popmax=0.6003;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6054;Kaviar_AF=0.0021798;Kaviar_AC=337;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.376894::0.235118;Heart_Left_Ventricle=Heart_Left_Ventricle::0.387868::0.177853;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.372492;ALLELE_END;VINYL_score=3 GT 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 1|0 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|0 1|1 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 0|0 1|0 0|1 0|0 1|0 1|1 1|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 1|1 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 +3 12633168 rs2290161 A G 100 PASS AC=8;AF=0.0213658;AN=214;NS=2504;DP=16883;EAS_AF=0.0208;AMR_AF=0.0576;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0245;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2290161;CLNALLELEID=250893;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0119;ExAC_nontcga_ALL=0.0159;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.0260;ExAC_nontcga_FIN=0.0112;ExAC_nontcga_NFE=0.0132;ExAC_nontcga_OTH=0.0146;ExAC_nontcga_SAS=0.0154;AF=0.0104;AF_popmax=0.0248;AF_male=0.0110;AF_female=0.0096;AF_raw=0.0104;AF_afr=0.0055;AF_sas=.;AF_amr=0.0248;AF_eas=0.0199;AF_nfe=0.0114;AF_fin=0.0109;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.01608;Kaviar_AC=2486;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0170455::-0.80437;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.248269;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +3 12641349 rs5746226 A G 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=18843;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5746226;CLNALLELEID=250894;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0155;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0111;AF=0.0077;AF_popmax=0.0114;AF_male=0.0082;AF_female=0.0071;AF_raw=0.0077;AF_afr=0.0044;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0017;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0105303;Kaviar_AC=1628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12641350 rs5746225 A G 100 PASS AC=2;AF=0.00459265;AN=214;NS=2504;DP=18896;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5746225;CLNALLELEID=250895;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0106;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0112;AF=0.0077;AF_popmax=0.0114;AF_male=0.0082;AF_female=0.0071;AF_raw=0.0077;AF_afr=0.0044;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0017;AF_asj=0.0310;AF_oth=0.0064;non_topmed_AF_popmax=0.0101;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0105367;Kaviar_AC=1629;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12641873 rs200706214 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17313;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200706214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.053672;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12647830 rs3729927 G A 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=18598;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729927;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0048;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0092;AF=0.0018;AF_popmax=0.0047;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0013;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0006;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0033893;Kaviar_AC=524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.163209;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 12650482 rs2454440 T A 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=20125;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2454440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.949610;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 14166739 rs202159933 G C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=14742;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202159933;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0270;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0055;AF_popmax=0.0047;AF_male=0.0046;AF_female=0.0068;AF_raw=0.0055;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0250;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1777220|N/A|RBL2|PAZAR,OREG1795662|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.808404;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14166813 rs140833608 G C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17515;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140833608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0012;AF_male=0.0010;AF_female=0.0004;AF_raw=0.0007;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0011142;Kaviar_AC=29;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795662|N/A|RBL2|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.263684;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14166835 rs2733579 C T 100 PASS AC=27;AF=0.245807;AN=214;NS=2504;DP=18369;EAS_AF=0.2183;AMR_AF=0.2594;AFR_AF=0.4508;EUR_AF=0.1282;SAS_AF=0.1084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.245807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2733579;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1956;AF_popmax=0.3941;AF_male=0.2010;AF_female=0.1888;AF_raw=0.1959;AF_afr=0.3941;AF_sas=.;AF_amr=0.1828;AF_eas=0.2265;AF_nfe=0.1160;AF_fin=0.0717;AF_asj=0.1069;AF_oth=0.1241;non_topmed_AF_popmax=0.3946;non_neuro_AF_popmax=0.3885;non_cancer_AF_popmax=.;controls_AF_popmax=0.3870;Kaviar_AF=0.170778;Kaviar_AC=4445;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000148875|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1811303|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.413950;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 14171082 rs137975239 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=15135;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137975239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0055;ExAC_nontcga_ALL=0.0038;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0016;AF=0.0053;AF_popmax=0.0082;AF_male=0.0048;AF_female=0.0060;AF_raw=0.0053;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0055;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0080;non_cancer_AF_popmax=.;controls_AF_popmax=0.0102;Kaviar_AF=0.0041785;Kaviar_AC=646;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.458430;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14172381 rs34099410 C T 100 PASS AC=9;AF=0.00399361;AN=214;NS=2504;DP=18644;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon3:c.C222T:p.P74P;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34099410;CLNALLELEID=55306;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0121;ExAC_nontcga_ALL=0.0075;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0014;AF=0.0080;AF_popmax=0.0128;AF_male=0.0081;AF_female=0.0080;AF_raw=0.0081;AF_afr=0.0026;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0032;AF_asj=0.0172;AF_oth=0.0055;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.696209;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14172494 rs576324845 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17958;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576324845;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.885e-05;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0028;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003169;Kaviar_AC=49;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14173963 rs4685074 G T 100 PASS AC=54;AF=0.45627;AN=214;NS=2504;DP=18209;EAS_AF=0.6706;AMR_AF=0.5029;AFR_AF=0.4327;EUR_AF=0.2594;SAS_AF=0.4366;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.45627;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685074;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3469;AF_popmax=0.6634;AF_male=0.3474;AF_female=0.3461;AF_raw=0.3472;AF_afr=0.4018;AF_sas=.;AF_amr=0.5059;AF_eas=0.6634;AF_nfe=0.2917;AF_fin=0.2968;AF_asj=0.2414;AF_oth=0.3013;non_topmed_AF_popmax=0.6649;non_neuro_AF_popmax=0.6634;non_cancer_AF_popmax=.;controls_AF_popmax=0.6696;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14174002 rs573490765 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19041;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573490765;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.422e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174146 rs4685075 T C 100 PASS AC=77;AF=0.557308;AN=214;NS=2504;DP=15960;EAS_AF=0.6786;AMR_AF=0.5893;AFR_AF=0.6248;EUR_AF=0.3956;SAS_AF=0.4847;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.557308;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4069;ExAC_nontcga_ALL=0.4769;ExAC_nontcga_AFR=0.5796;ExAC_nontcga_AMR=0.6361;ExAC_nontcga_EAS=0.6737;ExAC_nontcga_FIN=0.5079;ExAC_nontcga_NFE=0.3986;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.4640;AF=0.4878;AF_popmax=0.6662;AF_male=0.4853;AF_female=0.4910;AF_raw=0.4876;AF_afr=0.5784;AF_sas=.;AF_amr=0.5908;AF_eas=0.6662;AF_nfe=0.4136;AF_fin=0.5072;AF_asj=0.3690;AF_oth=0.4485;non_topmed_AF_popmax=0.6678;non_neuro_AF_popmax=0.6662;non_cancer_AF_popmax=.;controls_AF_popmax=0.6732;Kaviar_AF=0.457271;Kaviar_AC=70695;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 1|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|1 1|0 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|0 1|1 0|0 0|0 0|1 +3 14174170 rs148412226 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15481;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148412226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=6.494e-05;AF_male=0;AF_female=7.188e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.037e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174318 rs41284009 G A 100 PASS AC=3;AF=0.00499201;AN=214;NS=2504;DP=16784;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.001;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0041;AF=0.0081;AF_popmax=0.0123;AF_male=0.0071;AF_female=0.0094;AF_raw=0.0081;AF_afr=0.0009;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0086;AF_asj=0.0310;AF_oth=0.0138;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0072962;Kaviar_AC=1128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14174427 rs4685076 A T 100 PASS AC=53;AF=0.352636;AN=214;NS=2504;DP=18688;EAS_AF=0.4613;AMR_AF=0.366;AFR_AF=0.3026;EUR_AF=0.2545;SAS_AF=0.3998;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon6:c.A504T:p.K168N;1000g2015aug_all=0.352636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4685076;CLNALLELEID=55313;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.219;SIFT_converted_rankscore=0.190;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_rankscore=0.309;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.017;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=P;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.247;PROVEAN_pred=N;VEST3_score=0.122;VEST3_rankscore=0.137;MetaSVM_score=-0.896;MetaSVM_rankscore=0.485;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.489;CADD_raw_rankscore=0.360;CADD_phred=19.40;DANN_score=0.994;DANN_rankscore=0.637;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_rankscore=0.442;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.365;Eigen-PC-raw=-0.241;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.425;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=0.923;phyloP100way_vertebrate_rankscore=0.282;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.874;SiPhy_29way_logOdds_rankscore=0.286;Interpro_domain=.;GTEx_V6p_gene=ENSG00000163528.8|ENSG00000163528.8|ENSG00000154767.10|ENSG00000154767.10;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2878;ExAC_nontcga_ALL=0.3251;ExAC_nontcga_AFR=0.2882;ExAC_nontcga_AMR=0.4428;ExAC_nontcga_EAS=0.4342;ExAC_nontcga_FIN=0.3004;ExAC_nontcga_NFE=0.2795;ExAC_nontcga_OTH=0.3559;ExAC_nontcga_SAS=0.3728;AF=0.2966;AF_popmax=0.4343;AF_male=0.294;AF_female=0.2999;AF_raw=0.2966;AF_afr=0.2784;AF_sas=.;AF_amr=0.4222;AF_eas=0.4343;AF_nfe=0.2899;AF_fin=0.2909;AF_asj=0.2414;AF_oth=0.2768;non_topmed_AF_popmax=0.4340;non_neuro_AF_popmax=0.4343;non_cancer_AF_popmax=.;controls_AF_popmax=0.4431;Kaviar_AF=0.31735;Kaviar_AC=49063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.649266;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14174454 rs114026215 G T 100 PASS AC=2;AF=0.00798722;AN=214;NS=2504;DP=19203;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114026215;CLNALLELEID=250964;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0226;ExAC_nontcga_ALL=0.0124;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0107;ExAC_nontcga_NFE=0.0190;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0057;AF=0.0135;AF_popmax=0.0215;AF_male=0.0131;AF_female=0.0139;AF_raw=0.0135;AF_afr=0.0048;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0089;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0189;non_neuro_AF_popmax=0.0214;non_cancer_AF_popmax=.;controls_AF_popmax=0.0149;Kaviar_AF=0.013842;Kaviar_AC=2140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14175262 rs2340917 T C 100 PASS AC=54;AF=0.463259;AN=214;NS=2504;DP=17856;EAS_AF=0.6756;AMR_AF=0.5058;AFR_AF=0.4508;EUR_AF=0.2624;SAS_AF=0.4376;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon7:c.T536C:p.M179T;1000g2015aug_all=0.463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2340917;CLNALLELEID=55315;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.6;FATHMM_converted_rankscore=0.286;FATHMM_pred=T;PROVEAN_score=2.58;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.146;VEST3_rankscore=0.172;MetaSVM_score=-0.943;MetaSVM_rankscore=0.421;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.428;CADD_raw_rankscore=0.135;CADD_phred=6.855;DANN_score=0.191;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.120;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.967;Eigen-PC-raw=-0.716;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=3.134;phyloP100way_vertebrate_rankscore=0.500;phyloP20way_mammalian=0.040;phyloP20way_mammalian_rankscore=0.155;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.297;phastCons20way_mammalian_rankscore=0.237;SiPhy_29way_logOdds=14.217;SiPhy_29way_logOdds_rankscore=0.652;Interpro_domain=.;GTEx_V6p_gene=ENSG00000163528.8|ENSG00000154767.10|ENSG00000154767.10;GTEx_V6p_tissue=Muscle_Skeletal|Muscle_Skeletal|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2955;ExAC_nontcga_ALL=0.3795;ExAC_nontcga_AFR=0.4199;ExAC_nontcga_AMR=0.5842;ExAC_nontcga_EAS=0.6736;ExAC_nontcga_FIN=0.3161;ExAC_nontcga_NFE=0.2869;ExAC_nontcga_OTH=0.3862;ExAC_nontcga_SAS=0.4090;AF=0.3550;AF_popmax=0.6624;AF_male=0.3561;AF_female=0.3535;AF_raw=0.3552;AF_afr=0.4184;AF_sas=.;AF_amr=0.5083;AF_eas=0.6624;AF_nfe=0.2970;AF_fin=0.3024;AF_asj=0.2414;AF_oth=0.3076;non_topmed_AF_popmax=0.6638;non_neuro_AF_popmax=0.6624;non_cancer_AF_popmax=.;controls_AF_popmax=0.6703;Kaviar_AF=0.366011;Kaviar_AC=56586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.270300;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14176446 rs6766740 G A 100 PASS AC=52;AF=0.350839;AN=214;NS=2504;DP=19582;EAS_AF=0.4583;AMR_AF=0.366;AFR_AF=0.3048;EUR_AF=0.2495;SAS_AF=0.3957;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.350839;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6766740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2919;AF_popmax=0.4311;AF_male=0.2895;AF_female=0.2949;AF_raw=0.2922;AF_afr=0.2785;AF_sas=.;AF_amr=0.4157;AF_eas=0.4311;AF_nfe=0.2821;AF_fin=0.2862;AF_asj=0.2414;AF_oth=0.2745;non_topmed_AF_popmax=0.4306;non_neuro_AF_popmax=0.4311;non_cancer_AF_popmax=.;controls_AF_popmax=0.4350;Kaviar_AF=0.0617909;Kaviar_AC=9553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14177251 rs3796311 G A 100 PASS AC=46;AF=0.201877;AN=214;NS=2504;DP=18378;EAS_AF=0.0556;AMR_AF=0.2363;AFR_AF=0.1974;EUR_AF=0.2187;SAS_AF=0.317;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.201877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3796311;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2223;AF_popmax=0.2842;AF_male=0.2212;AF_female=0.2237;AF_raw=0.2225;AF_afr=0.1881;AF_sas=.;AF_amr=0.2842;AF_eas=0.0541;AF_nfe=0.2557;AF_fin=0.2170;AF_asj=0.2379;AF_oth=0.2288;non_topmed_AF_popmax=0.2864;non_neuro_AF_popmax=0.2960;non_cancer_AF_popmax=.;controls_AF_popmax=0.2967;Kaviar_AF=0.0472504;Kaviar_AC=7305;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 14177433 rs190262194 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20927;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190262194;CLNALLELEID=189779;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0012;AF=0.0004;AF_popmax=0.0035;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0007956;Kaviar_AC=123;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 14180633 rs2731320 C T 100 PASS AC=38;AF=0.0964457;AN=214;NS=2504;DP=20235;EAS_AF=0.002;AMR_AF=0.134;AFR_AF=0.0582;EUR_AF=0.2237;SAS_AF=0.0879;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0964457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2731320;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2149;ExAC_nontcga_ALL=0.1545;ExAC_nontcga_AFR=0.0560;ExAC_nontcga_AMR=0.0960;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.2277;ExAC_nontcga_NFE=0.2118;ExAC_nontcga_OTH=0.1696;ExAC_nontcga_SAS=0.1028;AF=0.1577;AF_popmax=0.2079;AF_male=0.1523;AF_female=0.1644;AF_raw=0.1578;AF_afr=0.0627;AF_sas=.;AF_amr=0.1344;AF_eas=0;AF_nfe=0.2079;AF_fin=0.2330;AF_asj=0.2034;AF_oth=0.1985;non_topmed_AF_popmax=0.2107;non_neuro_AF_popmax=0.2070;non_cancer_AF_popmax=.;controls_AF_popmax=0.2027;Kaviar_AF=0.159856;Kaviar_AC=24714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.189338::-0.181854;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 14180706 rs35100587 C T 100 PASS AC=7;AF=0.0213658;AN=214;NS=2504;DP=20261;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0363;EUR_AF=0.0239;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C909T:p.S303S;1000g2015aug_all=0.0213658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35100587;CLNALLELEID=55319;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.02;ExAC_nontcga_ALL=0.0200;ExAC_nontcga_AFR=0.0284;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0213;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0317;AF=0.0195;AF_popmax=0.0287;AF_male=0.0211;AF_female=0.0175;AF_raw=0.0196;AF_afr=0.0287;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0184;AF_fin=0.0141;AF_asj=0.0103;AF_oth=0.0147;non_topmed_AF_popmax=0.0284;non_neuro_AF_popmax=0.0284;non_cancer_AF_popmax=.;controls_AF_popmax=0.0296;Kaviar_AF=0.0200838;Kaviar_AC=3105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.493196;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 14180732 rs201543634 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20305;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.G935A:p.R312Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201543634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.81;Polyphen2_HVAR_rankscore=0.568;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.785;MutationAssessor_score_rankscore=0.815;MutationAssessor_pred=M;FATHMM_score=-0.09;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-3.75;PROVEAN_converted_rankscore=0.711;PROVEAN_pred=D;VEST3_score=0.973;VEST3_rankscore=0.974;MetaSVM_score=-0.082;MetaSVM_rankscore=0.805;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_rankscore=0.764;MetaLR_pred=T;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.668;REVEL_rankscore=0.878;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.388;CADD_raw_rankscore=0.882;CADD_phred=29.5;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.707;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.732;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.25;GERP++_RS_rankscore=0.731;phyloP100way_vertebrate=9.288;phyloP100way_vertebrate_rankscore=0.950;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=18.856;SiPhy_29way_logOdds_rankscore=0.922;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485844|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.462727;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 14183326 rs182728261 T C 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=17728;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0.0184;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TMEM43;GeneDetail.refGene=NM_024334:c.*31T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182728261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0105;ExAC_nontcga_OTH=0.0151;ExAC_nontcga_SAS=0.0163;AF=0.0068;AF_popmax=0.0104;AF_male=0.0068;AF_female=0.0067;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0063;AF_asj=0.0034;AF_oth=0.0119;non_topmed_AF_popmax=0.0109;non_neuro_AF_popmax=0.0104;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0070245;Kaviar_AC=1086;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.553780;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32148371 rs112562374 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=10919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112562374;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0013;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0011;AF_raw=0.0013;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.001191;Kaviar_AC=31;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000150479|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193921|N/A|TFAP2C|PAZAR,OREG1660415|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.635226;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32169509 rs549227738 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19074;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549227738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275263|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181709 rs113202696 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20469;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113202696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0016;dbscSNV_RF_SCORE=0.084;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.369e-05;AF_popmax=6.48e-05;AF_male=5.722e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 32181710 rs113764055 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20443;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113764055;CLNALLELEID=293879;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=6.484e-05;AF_male=5.723e-05;AF_female=7.185e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.484e-05;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 32181725 rs182826539 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.A372G:p.I124M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182826539;CLNALLELEID=293883;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.45;SIFT_converted_rankscore=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_rankscore=0.288;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.16;MutationAssessor_score_rankscore=0.298;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.385;PROVEAN_pred=N;VEST3_score=0.442;VEST3_rankscore=0.588;MetaSVM_score=-1.108;MetaSVM_rankscore=0.032;MetaSVM_pred=T;MetaLR_score=0.114;MetaLR_rankscore=0.405;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.571;M-CAP_pred=D;REVEL_score=0.217;REVEL_rankscore=0.516;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.478;CADD_raw_rankscore=0.359;CADD_phred=19.33;DANN_score=0.640;DANN_rankscore=0.072;fathmm-MKL_coding_score=0.261;fathmm-MKL_coding_rankscore=0.227;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.825;Eigen-PC-raw=-0.842;GenoCanyon_score=0.644;GenoCanyon_score_rankscore=0.221;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=-4.57;GERP++_RS_rankscore=0.032;phyloP100way_vertebrate=-0.803;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=1.178;phyloP20way_mammalian_rankscore=0.904;phastCons100way_vertebrate=0.028;phastCons100way_vertebrate_rankscore=0.201;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=4.071;SiPhy_29way_logOdds_rankscore=0.093;Interpro_domain=Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_N-terminal|NAD(P)-binding_domain\x3bNAD(P)-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.591e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=6.373e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.360262;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181761 rs9835387 C T 100 PASS AC=35;AF=0.14976;AN=214;NS=2504;DP=19949;EAS_AF=0.002;AMR_AF=0.1182;AFR_AF=0.2965;EUR_AF=0.1362;SAS_AF=0.1401;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C408T:p.D136D;1000g2015aug_all=0.14976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9835387;CLNALLELEID=251091;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1387;ExAC_nontcga_ALL=0.1281;ExAC_nontcga_AFR=0.3030;ExAC_nontcga_AMR=0.0634;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0851;ExAC_nontcga_NFE=0.1321;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.1410;AF=0.1633;AF_popmax=0.2985;AF_male=0.1655;AF_female=0.1606;AF_raw=0.1637;AF_afr=0.2985;AF_sas=.;AF_amr=0.0853;AF_eas=0.0019;AF_nfe=0.1261;AF_fin=0.0929;AF_asj=0.1724;AF_oth=0.1268;non_topmed_AF_popmax=0.3001;non_neuro_AF_popmax=0.3044;non_cancer_AF_popmax=.;controls_AF_popmax=0.3069;Kaviar_AF=0.129106;Kaviar_AC=19960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.465636;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32181798 rs146738300 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C445T:p.L149L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146738300;CLNALLELEID=367106;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1243675|N/A|SMARCA4|PAZAR,OREG1275264|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.186835;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32188248 rs11351972 GA G 100 PASS AC=4;AF=0.101637;AN=214;NS=2504;DP=19576;EAS_AF=0.1458;AMR_AF=0.0303;AFR_AF=0.1952;EUR_AF=0.0258;SAS_AF=0.0583;AA=A|A|-|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.101637;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11351972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0194;ExAC_nontcga_ALL=0.0465;ExAC_nontcga_AFR=0.1787;ExAC_nontcga_AMR=0.0177;ExAC_nontcga_EAS=0.1457;ExAC_nontcga_FIN=0.0245;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0418;ExAC_nontcga_SAS=0.0489;AF=0.0690;AF_popmax=0.1766;AF_male=0.0700;AF_female=0.0677;AF_raw=0.0692;AF_afr=0.1766;AF_sas=.;AF_amr=0.0318;AF_eas=0.1459;AF_nfe=0.0161;AF_fin=0.0233;AF_asj=0.0172;AF_oth=0.0368;non_topmed_AF_popmax=0.1750;non_neuro_AF_popmax=0.1739;non_cancer_AF_popmax=.;controls_AF_popmax=0.1689;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR,OREG1243677|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.139296;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32200322 rs2305361 T C 100 PASS AC=46;AF=0.479433;AN=214;NS=2504;DP=16860;EAS_AF=0.6022;AMR_AF=0.3617;AFR_AF=0.6036;EUR_AF=0.3091;SAS_AF=0.4438;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.479433;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2305361;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3065;ExAC_nontcga_ALL=0.4043;ExAC_nontcga_AFR=0.5632;ExAC_nontcga_AMR=0.3880;ExAC_nontcga_EAS=0.6143;ExAC_nontcga_FIN=0.5012;ExAC_nontcga_NFE=0.3365;ExAC_nontcga_OTH=0.3547;ExAC_nontcga_SAS=0.4228;AF=0.4169;AF_popmax=0.6016;AF_male=0.4172;AF_female=0.4165;AF_raw=0.4168;AF_afr=0.5435;AF_sas=.;AF_amr=0.3420;AF_eas=0.6016;AF_nfe=0.3227;AF_fin=0.4729;AF_asj=0.2690;AF_oth=0.3961;non_topmed_AF_popmax=0.5962;non_neuro_AF_popmax=0.6016;non_cancer_AF_popmax=.;controls_AF_popmax=0.6022;Kaviar_AF=0.350979;Kaviar_AC=54262;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.28125::-0.506447;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 +3 32200588 rs72552291 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=15073;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon6:c.C839T:p.A280V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72552291;CLNALLELEID=15825;CLNDN=Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001522,MedGen:C1858430|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.832;SIFT_converted_rankscore=0.029;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.368;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_converted_rankscore=0.407;MutationTaster_pred=A;MutationAssessor_score=0.07;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_converted_rankscore=0.633;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.193;MetaSVM_score=-0.965;MetaSVM_rankscore=0.382;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.376;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.389;M-CAP_pred=T;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.097;CADD_raw_rankscore=0.103;CADD_phred=3.573;DANN_score=0.230;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.546;fathmm-MKL_coding_rankscore=0.294;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.810;Eigen-PC-raw=-0.641;GenoCanyon_score=0.267;GenoCanyon_score_rankscore=0.189;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=1.357;phyloP100way_vertebrate_rankscore=0.335;phyloP20way_mammalian=0.918;phyloP20way_mammalian_rankscore=0.429;phastCons100way_vertebrate=0.983;phastCons100way_vertebrate_rankscore=0.354;phastCons20way_mammalian=0.861;phastCons20way_mammalian_rankscore=0.359;SiPhy_29way_logOdds=9.107;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=6-phosphogluconate_dehydrogenase_C-terminal_domain-like|6-phosphogluconate_dehydrogenase,_domain_2|Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.597e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.373e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.521506;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32201104 rs192905901 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16887;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon7:c.C897T:p.L299L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192905901;CLNALLELEID=509576;CLNDN=Brugada_syndrome|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.553e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.352555;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 32201123 rs534373652 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon7:c.G916T:p.A306S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534373652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_converted_rankscore=0.290;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.051;Polyphen2_HVAR_rankscore=0.240;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_score_rankscore=0.547;MutationAssessor_pred=M;FATHMM_score=-0.03;FATHMM_converted_rankscore=0.631;FATHMM_pred=T;PROVEAN_score=-0.94;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.517;VEST3_rankscore=0.559;MetaSVM_score=-0.803;MetaSVM_rankscore=0.550;MetaSVM_pred=T;MetaLR_score=0.214;MetaLR_rankscore=0.575;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.529;M-CAP_pred=D;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=0.431;MutPred_rankscore=0.481;CADD_raw=2.083;CADD_raw_rankscore=0.311;CADD_phred=16.74;DANN_score=0.871;DANN_rankscore=0.165;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_rankscore=0.823;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.410;Eigen-PC-raw=-0.348;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=7.929;phyloP100way_vertebrate_rankscore=0.870;phyloP20way_mammalian=0.110;phyloP20way_mammalian_rankscore=0.204;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.363;phastCons20way_mammalian_rankscore=0.248;SiPhy_29way_logOdds=14.569;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=6-phosphogluconate_dehydrogenase_C-terminal_domain-like|6-phosphogluconate_dehydrogenase,_domain_2|Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.446e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.912936;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38591847 rs45489199 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16371;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5962G:p.P1988A,SCN5A:NM_001160161:exon27:c.C5854G:p.P1952A,SCN5A:NM_000335:exon28:c.C6013G:p.P2005A,SCN5A:NM_001099404:exon28:c.C6016G:p.P2006A,SCN5A:NM_001160160:exon28:c.C5917G:p.P1973A,SCN5A:NM_198056:exon28:c.C6016G:p.P2006A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45489199;CLNALLELEID=78916;CLNDN=Brugada_syndrome|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4551804,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.597;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.500;LRT_converted_rankscore=0.120;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-3.61;FATHMM_converted_rankscore=0.954;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.266;PROVEAN_pred=N;VEST3_score=0.12;VEST3_rankscore=0.414;MetaSVM_score=-0.357;MetaSVM_rankscore=0.734;MetaSVM_pred=T;MetaLR_score=0.564;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.244;M-CAP_rankscore=0.889;M-CAP_pred=D;REVEL_score=0.284;REVEL_rankscore=0.606;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.385;CADD_raw_rankscore=0.004;CADD_phred=0.001;DANN_score=0.354;DANN_rankscore=0.022;fathmm-MKL_coding_score=0.115;fathmm-MKL_coding_rankscore=0.165;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.032;Eigen-PC-raw=-1.016;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.339;integrated_fitCons_score=0.539;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=-2.61;GERP++_RS_rankscore=0.058;phyloP100way_vertebrate=-0.091;phyloP100way_vertebrate_rankscore=0.110;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.034;phastCons20way_mammalian_rankscore=0.151;SiPhy_29way_logOdds=4.484;SiPhy_29way_logOdds_rankscore=0.111;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=8.99e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0001;AF=0.0012;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0015;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0023;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0020;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0026;Kaviar_AF=0.0011384;Kaviar_AC=176;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506234|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.870231;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38591888 rs558904601 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15163;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.G5921C:p.G1974A,SCN5A:NM_001160161:exon27:c.G5813C:p.G1938A,SCN5A:NM_000335:exon28:c.G5972C:p.G1991A,SCN5A:NM_001099404:exon28:c.G5975C:p.G1992A,SCN5A:NM_001160160:exon28:c.G5876C:p.G1959A,SCN5A:NM_198056:exon28:c.G5975C:p.G1992A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558904601;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.679;SIFT_converted_rankscore=0.063;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.323;LRT_converted_rankscore=0.041;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-3.64;FATHMM_converted_rankscore=0.955;FATHMM_pred=D;PROVEAN_score=-0.2;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.078;MetaSVM_score=-0.152;MetaSVM_rankscore=0.789;MetaSVM_pred=T;MetaLR_score=0.565;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.112;M-CAP_rankscore=0.790;M-CAP_pred=D;REVEL_score=0.251;REVEL_rankscore=0.565;MutPred_score=0.225;MutPred_rankscore=0.150;CADD_raw=-3.096;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.173;DANN_rankscore=0.005;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_rankscore=0.071;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.787;Eigen-PC-raw=-1.835;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.539;integrated_fitCons_score_rankscore=0.216;integrated_confidence_value=0;GERP++_RS=-7.26;GERP++_RS_rankscore=0.013;phyloP100way_vertebrate=-0.280;phyloP100way_vertebrate_rankscore=0.084;phyloP20way_mammalian=-0.734;phyloP20way_mammalian_rankscore=0.035;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.385;phastCons20way_mammalian_rankscore=0.252;SiPhy_29way_logOdds=6.743;SiPhy_29way_logOdds_rankscore=0.225;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.054e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.938e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506234|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.856033;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38592406 rs1805126 A G 100 PASS AC=76;AF=0.492412;AN=214;NS=2504;DP=20365;EAS_AF=0.5784;AMR_AF=0.4265;AFR_AF=0.7042;EUR_AF=0.3648;SAS_AF=0.2955;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D;1000g2015aug_all=0.492412;GWAS=rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857;ORegAnno_REGULATORY_P=rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857;avsnp150=rs1805126;CLNALLELEID=57470;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3336;ExAC_nontcga_ALL=0.3911;ExAC_nontcga_AFR=0.6546;ExAC_nontcga_AMR=0.3933;ExAC_nontcga_EAS=0.5539;ExAC_nontcga_FIN=0.4433;ExAC_nontcga_NFE=0.3357;ExAC_nontcga_OTH=0.4101;ExAC_nontcga_SAS=0.3366;AF=0.4459;AF_popmax=0.6638;AF_male=0.4505;AF_female=0.4400;AF_raw=0.4460;AF_afr=0.6638;AF_sas=.;AF_amr=0.3768;AF_eas=0.5544;AF_nfe=0.3233;AF_fin=0.4407;AF_asj=0.3507;AF_oth=0.3812;non_topmed_AF_popmax=0.6638;non_neuro_AF_popmax=0.6643;non_cancer_AF_popmax=.;controls_AF_popmax=0.6682;Kaviar_AF=0.379568;Kaviar_AC=58682;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.926716;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 1|0 0|1 1|1 0|1 1|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|1 1|1 1|0 1|1 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 1|0 1|1 1|0 0|0 0|0 +3 38592799 rs145731678 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20035;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.C5010T:p.I1670I,SCN5A:NM_001160161:exon27:c.C4902T:p.I1634I,SCN5A:NM_000335:exon28:c.C5061T:p.I1687I,SCN5A:NM_001099404:exon28:c.C5064T:p.I1688I,SCN5A:NM_001160160:exon28:c.C4965T:p.I1655I,SCN5A:NM_198056:exon28:c.C5064T:p.I1688I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145731678;CLNALLELEID=229046;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.766e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.36e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.945261;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38597180 rs45548237 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=15861;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon25:c.C4455T:p.S1485S,SCN5A:NM_001160161:exon25:c.C4347T:p.S1449S,SCN5A:NM_000335:exon26:c.C4506T:p.S1502S,SCN5A:NM_001099404:exon26:c.C4509T:p.S1503S,SCN5A:NM_001160160:exon26:c.C4506T:p.S1502S,SCN5A:NM_198056:exon26:c.C4509T:p.S1503S;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45548237;CLNALLELEID=45424;CLNDN=Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0045;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0019;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0040;AF_popmax=0.0058;AF_male=0.0034;AF_female=0.0046;AF_raw=0.0039;AF_afr=0.0006;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0060;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0070;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0080;Kaviar_AF=0.0030207;Kaviar_AC=467;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910864;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38597867 rs41315507 C T 100 PASS AC=30;AF=0.0854633;AN=214;NS=2504;DP=15491;EAS_AF=0;AMR_AF=0.0778;AFR_AF=0.1793;EUR_AF=0.0994;SAS_AF=0.0378;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0854633;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41315507;CLNALLELEID=519374;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0985;AF_popmax=0.1648;AF_male=0.1017;AF_female=0.0944;AF_raw=0.0985;AF_afr=0.1648;AF_sas=.;AF_amr=0.0613;AF_eas=0.0013;AF_nfe=0.0874;AF_fin=0.0345;AF_asj=0.1793;AF_oth=0.0764;non_topmed_AF_popmax=0.1646;non_neuro_AF_popmax=0.1655;non_cancer_AF_popmax=.;controls_AF_popmax=0.1676;Kaviar_AF=0.0919394;Kaviar_AC=2393;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0719697::0.445183;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.090329;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 +3 38598669 rs41312393 A G 100 PASS AC=12;AF=0.127995;AN=214;NS=2504;DP=16352;EAS_AF=0.2718;AMR_AF=0.0865;AFR_AF=0.1104;EUR_AF=0.0686;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312393;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0597;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0985;AF_popmax=0.3021;AF_male=0.0989;AF_female=0.0979;AF_raw=0.0985;AF_afr=0.1247;AF_sas=.;AF_amr=0.0778;AF_eas=0.3021;AF_nfe=0.0582;AF_fin=0.1272;AF_asj=0.0828;AF_oth=0.0965;non_topmed_AF_popmax=0.3030;non_neuro_AF_popmax=0.3021;non_cancer_AF_popmax=.;controls_AF_popmax=0.2993;Kaviar_AF=0.0150063;Kaviar_AC=2320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.485776;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38601665 rs41311123 C T 100 PASS AC=2;AF=0.00359425;AN=214;NS=2504;DP=19733;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G4056A:p.G1352G,SCN5A:NM_000335:exon23:c.G4215A:p.G1405G,SCN5A:NM_001099404:exon23:c.G4218A:p.G1406G,SCN5A:NM_001099405:exon23:c.G4218A:p.G1406G,SCN5A:NM_001160160:exon23:c.G4215A:p.G1405G,SCN5A:NM_198056:exon23:c.G4218A:p.G1406G;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311123;CLNALLELEID=45422;CLNDN=Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0138;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0035;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0095;ExAC_nontcga_NFE=0.0130;ExAC_nontcga_OTH=0.0034;ExAC_nontcga_SAS=0.0026;AF=0.0077;AF_popmax=0.0121;AF_male=0.0074;AF_female=0.0081;AF_raw=0.0077;AF_afr=0.0026;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0069;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0093;Kaviar_AF=0.0084734;Kaviar_AC=1310;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942324;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38601722 rs182293857 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G3999C:p.L1333F,SCN5A:NM_000335:exon23:c.G4158C:p.L1386F,SCN5A:NM_001099404:exon23:c.G4161C:p.L1387F,SCN5A:NM_001099405:exon23:c.G4161C:p.L1387F,SCN5A:NM_001160160:exon23:c.G4158C:p.L1386F,SCN5A:NM_198056:exon23:c.G4161C:p.L1387F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182293857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.157;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.112;LRT_converted_rankscore=0.194;LRT_pred=N;MutationTaster_score=0.970;MutationTaster_converted_rankscore=0.257;MutationTaster_pred=N;MutationAssessor_score=1.675;MutationAssessor_score_rankscore=0.433;MutationAssessor_pred=L;FATHMM_score=-3.9;FATHMM_converted_rankscore=0.962;FATHMM_pred=D;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.379;PROVEAN_pred=N;VEST3_score=0.108;VEST3_rankscore=0.377;MetaSVM_score=0.236;MetaSVM_rankscore=0.865;MetaSVM_pred=D;MetaLR_score=0.788;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=0.117;M-CAP_rankscore=0.797;M-CAP_pred=D;REVEL_score=0.379;REVEL_rankscore=0.700;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.309;CADD_raw_rankscore=0.222;CADD_phred=12.32;DANN_score=0.983;DANN_rankscore=0.394;fathmm-MKL_coding_score=0.456;fathmm-MKL_coding_rankscore=0.273;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.409;Eigen-PC-raw=-0.311;GenoCanyon_score=0.476;GenoCanyon_score_rankscore=0.207;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=3.27;GERP++_RS_rankscore=0.364;phyloP100way_vertebrate=1.888;phyloP100way_vertebrate_rankscore=0.391;phyloP20way_mammalian=0.103;phyloP20way_mammalian_rankscore=0.200;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.809;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=9.119;SiPhy_29way_logOdds_rankscore=0.357;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.642e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.869e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927219;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38603958 rs199473603 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21383;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon21:c.C3749T:p.T1250M,SCN5A:NM_000335:exon22:c.C3908T:p.T1303M,SCN5A:NM_001099404:exon22:c.C3911T:p.T1304M,SCN5A:NM_001099405:exon22:c.C3911T:p.T1304M,SCN5A:NM_001160160:exon22:c.C3908T:p.T1303M,SCN5A:NM_198056:exon22:c.C3911T:p.T1304M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199473603;CLNALLELEID=78729;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.795;MutationAssessor_score_rankscore=0.955;MutationAssessor_pred=H;FATHMM_score=-4.96;FATHMM_converted_rankscore=0.985;FATHMM_pred=D;PROVEAN_score=-5.3;PROVEAN_converted_rankscore=0.858;PROVEAN_pred=D;VEST3_score=0.876;VEST3_rankscore=0.897;MetaSVM_score=1.078;MetaSVM_rankscore=0.988;MetaSVM_pred=D;MetaLR_score=0.973;MetaLR_rankscore=0.991;MetaLR_pred=D;M-CAP_score=0.814;M-CAP_rankscore=0.986;M-CAP_pred=D;REVEL_score=0.924;REVEL_rankscore=0.981;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.635;CADD_raw_rankscore=0.768;CADD_phred=26.6;DANN_score=0.999;DANN_rankscore=0.964;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.862;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.788;Eigen-PC-raw=0.618;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.04;GERP++_RS_rankscore=0.461;phyloP100way_vertebrate=10.003;phyloP100way_vertebrate_rankscore=0.997;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.334;phastCons20way_mammalian_rankscore=0.243;SiPhy_29way_logOdds=16.415;SiPhy_29way_logOdds_rankscore=0.835;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0018;ExAC_nontcga_SAS=0.0001;AF=6.372e-05;AF_popmax=0.0001;AF_male=5.724e-05;AF_female=7.186e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0070925|N/A|N/A|VistaEnhancers;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.852384;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38618080 rs41312403 A G 100 PASS AC=11;AF=0.0345447;AN=214;NS=2504;DP=19890;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0499;EUR_AF=0.0557;SAS_AF=0.0358;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0345447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312403;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0554;AF_popmax=0.0624;AF_male=0.0549;AF_female=0.0560;AF_raw=0.0554;AF_afr=0.0501;AF_sas=.;AF_amr=0.0377;AF_eas=0;AF_nfe=0.0624;AF_fin=0.0673;AF_asj=0.0483;AF_oth=0.0551;non_topmed_AF_popmax=0.0613;non_neuro_AF_popmax=0.0616;non_cancer_AF_popmax=.;controls_AF_popmax=0.0541;Kaviar_AF=0.0090232;Kaviar_AC=1395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +3 38618142 rs41258454 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=20570;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41258454;CLNALLELEID=45421;CLNDN=Cardiomyopathy|Brugada_syndrome|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0064;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0100;ExAC_nontcga_OTH=0.0131;ExAC_nontcga_SAS=0.0020;AF=0.0059;AF_popmax=0.0094;AF_male=0.0060;AF_female=0.0057;AF_raw=0.0059;AF_afr=0.0028;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0094;AF_fin=0.0026;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0054915;Kaviar_AC=849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.883231;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38618342 rs571757961 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19235;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571757961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0004;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005379;Kaviar_AC=14;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.382076;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +3 38622467 rs7430407 T C 100 PASS AC=193;AF=0.923123;AN=214;NS=2504;DP=16991;EAS_AF=0.997;AMR_AF=0.9164;AFR_AF=0.8661;EUR_AF=0.9085;SAS_AF=0.9438;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E;1000g2015aug_all=0.923123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7430407;CLNALLELEID=57460;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8830;ExAC_nontcga_ALL=0.9145;ExAC_nontcga_AFR=0.8869;ExAC_nontcga_AMR=0.9549;ExAC_nontcga_EAS=0.9991;ExAC_nontcga_FIN=0.9254;ExAC_nontcga_NFE=0.8887;ExAC_nontcga_OTH=0.9203;ExAC_nontcga_SAS=0.9415;AF=0.9030;AF_popmax=0.9994;AF_male=0.9034;AF_female=0.9026;AF_raw=0.9029;AF_afr=0.8831;AF_sas=.;AF_amr=0.9257;AF_eas=0.9994;AF_nfe=0.8984;AF_fin=0.9261;AF_asj=0.8690;AF_oth=0.9081;non_topmed_AF_popmax=0.9993;non_neuro_AF_popmax=0.9994;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.898106;Kaviar_AC=138849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925456;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 +3 38622745 rs140967646 C A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.G2905T:p.G969C,SCN5A:NM_001099404:exon17:c.G2905T:p.G969C,SCN5A:NM_001099405:exon17:c.G2905T:p.G969C,SCN5A:NM_001160160:exon17:c.G2905T:p.G969C,SCN5A:NM_001160161:exon17:c.G2905T:p.G969C,SCN5A:NM_198056:exon17:c.G2905T:p.G969C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140967646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.934;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.443;MutationTaster_pred=D;MutationAssessor_score=3.54;MutationAssessor_score_rankscore=0.933;MutationAssessor_pred=H;FATHMM_score=-2.06;FATHMM_converted_rankscore=0.859;FATHMM_pred=D;PROVEAN_score=-7.32;PROVEAN_converted_rankscore=0.967;PROVEAN_pred=D;VEST3_score=0.777;VEST3_rankscore=0.849;MetaSVM_score=0.779;MetaSVM_rankscore=0.942;MetaSVM_pred=D;MetaLR_score=0.792;MetaLR_rankscore=0.929;MetaLR_pred=D;M-CAP_score=0.516;M-CAP_rankscore=0.954;M-CAP_pred=D;REVEL_score=0.803;REVEL_rankscore=0.937;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.503;CADD_raw_rankscore=0.896;CADD_phred=31;DANN_score=0.998;DANN_rankscore=0.852;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.773;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.826;Eigen-PC-raw=0.737;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.59;GERP++_RS_rankscore=0.561;phyloP100way_vertebrate=7.726;phyloP100way_vertebrate_rankscore=0.837;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.668;phastCons20way_mammalian_rankscore=0.302;SiPhy_29way_logOdds=17.619;SiPhy_29way_logOdds_rankscore=0.879;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.165e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.181e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.942508;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +3 38622868 rs41260344 G A 100 PASS AC=8;AF=0.0323482;AN=214;NS=2504;DP=16709;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0628;EUR_AF=0.0278;SAS_AF=0.0348;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41260344;CLNALLELEID=57459;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0430;ExAC_nontcga_ALL=0.0397;ExAC_nontcga_AFR=0.0627;ExAC_nontcga_AMR=0.0189;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0335;ExAC_nontcga_NFE=0.0448;ExAC_nontcga_OTH=0.0370;ExAC_nontcga_SAS=0.0489;AF=0.0391;AF_popmax=0.0551;AF_male=0.0396;AF_female=0.0386;AF_raw=0.0392;AF_afr=0.0551;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0369;AF_fin=0.0323;AF_asj=0.0310;AF_oth=0.0349;non_topmed_AF_popmax=0.0547;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0328133;Kaviar_AC=5073;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755610;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38627153 rs144423561 G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 100 PASS AC=7,35,52,98;AF=0.0409345,0.211062,0.282748,0.359824;AN=214;NS=2504;DP=21067;EAS_AF=0.0099,0.1161,0.4087,0.4554;AMR_AF=0.0274,0.232,0.2349,0.402;AFR_AF=0.09,0.2852,0.1853,0.1929;EUR_AF=0.0199,0.1809,0.2724,0.4394;SAS_AF=0.0378,0.2249,0.3292,0.3753;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0409345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.211062;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005951;Kaviar_AC=92;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.282748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003946;Kaviar_AC=61;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.359824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144423561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.567744;ALLELE_END;VINYL_score=1 GT 2|4 2|3 4|2 3|4 3|4 0|0 2|4 4|2 4|3 3|4 0|0 0|0 0|0 3|4 4|3 0|0 2|3 3|4 4|3 4|3 4|4 0|0 3|4 4|2 2|3 2|3 4|3 2|4 1|2 4|4 3|4 4|3 4|4 0|0 4|4 3|4 4|2 4|4 4|3 3|4 4|2 4|1 3|4 4|2 4|4 3|4 4|3 4|4 4|2 0|4 3|0 4|2 3|3 4|3 4|4 4|3 4|4 3|4 3|4 4|4 4|4 4|4 4|2 4|4 3|4 4|2 1|4 2|2 4|2 4|4 2|3 4|0 2|4 3|4 3|4 4|0 4|4 4|3 3|2 0|2 4|2 3|4 4|3 3|4 4|4 2|0 1|3 2|4 3|3 1|4 1|2 2|3 2|4 4|2 4|3 3|4 4|3 4|3 3|4 4|3 2|4 0|0 2|1 4|2 4|3 3|4 4|3 +3 38627537 rs72549411 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18731;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72549411;CLNALLELEID=142757;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=7.301e-05;AF=0.0005;AF_popmax=0.0010;AF_male=0.0006;AF_female=0.0003;AF_raw=0.0005;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.883128;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38628851 rs546353744 A AC 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19435;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.001;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41311519;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0067;ExAC_nontcga_SAS=0.0021;AF=0.0023;AF_popmax=0.0042;AF_male=0.0026;AF_female=0.0020;AF_raw=0.0024;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0038;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.598871;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38628879 rs41312419 C T 100 PASS AC=5;AF=0.00239617;AN=214;NS=2504;DP=20103;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312419;CLNALLELEID=45419;CLNDN=Cardiomyopathy|Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0031;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0056;ExAC_nontcga_SAS=9.577e-05;AF=0.0026;AF_popmax=0.0047;AF_male=0.0027;AF_female=0.0024;AF_raw=0.0026;AF_afr=0.0003;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0029;AF_asj=0.0241;AF_oth=0.0028;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029948;Kaviar_AC=463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.719204;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 38640536 rs201037918 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18959;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon13:c.G1896A:p.T632T,SCN5A:NM_001099404:exon13:c.G1896A:p.T632T,SCN5A:NM_001099405:exon13:c.G1896A:p.T632T,SCN5A:NM_001160160:exon13:c.G1896A:p.T632T,SCN5A:NM_001160161:exon13:c.G1896A:p.T632T,SCN5A:NM_198056:exon13:c.G1896A:p.T632T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201037918;CLNALLELEID=519221;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.054e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.949e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937040;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38645420 rs1805124 T C 100 PASS AC=50;AF=0.230431;AN=214;NS=2504;DP=17254;EAS_AF=0.1012;AMR_AF=0.2277;AFR_AF=0.3094;EUR_AF=0.2167;SAS_AF=0.273;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R;1000g2015aug_all=0.230431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805124;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.304;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=P;MutationAssessor_score=-2.58;MutationAssessor_score_rankscore=0.000;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=3.92;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.091;VEST3_rankscore=0.349;MetaSVM_score=-0.924;MetaSVM_rankscore=0.450;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.102;CADD_raw_rankscore=0.028;CADD_phred=0.010;DANN_score=0.286;DANN_rankscore=0.015;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.528;Eigen-PC-raw=-1.240;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.368;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.44;GERP++_RS_rankscore=0.287;phyloP100way_vertebrate=1.276;phyloP100way_vertebrate_rankscore=0.325;phyloP20way_mammalian=-1.897;phyloP20way_mammalian_rankscore=0.006;phastCons100way_vertebrate=0.956;phastCons100way_vertebrate_rankscore=0.331;phastCons20way_mammalian=0.751;phastCons20way_mammalian_rankscore=0.322;SiPhy_29way_logOdds=15.575;SiPhy_29way_logOdds_rankscore=0.760;Interpro_domain=Voltage-gated_Na+_ion_channel,_cytoplasmic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2321;ExAC_nontcga_ALL=0.2198;ExAC_nontcga_AFR=0.2877;ExAC_nontcga_AMR=0.2132;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2024;ExAC_nontcga_NFE=0.2219;ExAC_nontcga_OTH=0.2070;ExAC_nontcga_SAS=0.2484;AF=0.2451;AF_popmax=0.2947;AF_male=0.2472;AF_female=0.2425;AF_raw=0.2453;AF_afr=0.2947;AF_sas=.;AF_amr=0.2276;AF_eas=0.1055;AF_nfe=0.2462;AF_fin=0.1942;AF_asj=0.2241;AF_oth=0.2155;non_topmed_AF_popmax=0.2948;non_neuro_AF_popmax=0.3018;non_cancer_AF_popmax=.;controls_AF_popmax=0.3089;Kaviar_AF=0.219577;Kaviar_AC=33947;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875248;ALLELE_END;VINYL_score=2.5 GT 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38645506 rs45624133 A G 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18694;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.T1587C:p.I529I,SCN5A:NM_001099404:exon12:c.T1587C:p.I529I,SCN5A:NM_001099405:exon12:c.T1587C:p.I529I,SCN5A:NM_001160160:exon12:c.T1587C:p.I529I,SCN5A:NM_001160161:exon12:c.T1587C:p.I529I,SCN5A:NM_198056:exon12:c.T1587C:p.I529I;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45624133;CLNALLELEID=57451;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0081;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0151;ExAC_nontcga_NFE=0.0088;ExAC_nontcga_OTH=0.0093;ExAC_nontcga_SAS=0.0012;AF=0.0049;AF_popmax=0.0058;AF_male=0.0047;AF_female=0.0051;AF_raw=0.0049;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0112;AF_asj=0.0069;AF_oth=0.0065;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911414;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38645516 rs45627438 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19081;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.G1577A:p.R526H,SCN5A:NM_001099404:exon12:c.G1577A:p.R526H,SCN5A:NM_001099405:exon12:c.G1577A:p.R526H,SCN5A:NM_001160160:exon12:c.G1577A:p.R526H,SCN5A:NM_001160161:exon12:c.G1577A:p.R526H,SCN5A:NM_198056:exon12:c.G1577A:p.R526H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45627438;CLNALLELEID=78563;CLNDN=Brugada_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.46;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.451;LRT_converted_rankscore=0.125;LRT_pred=N;MutationTaster_score=0.959;MutationTaster_converted_rankscore=0.381;MutationTaster_pred=D;MutationAssessor_score=0.08;MutationAssessor_score_rankscore=0.083;MutationAssessor_pred=N;FATHMM_score=-3.06;FATHMM_converted_rankscore=0.925;FATHMM_pred=D;PROVEAN_score=-0.94;PROVEAN_converted_rankscore=0.373;PROVEAN_pred=N;VEST3_score=0.264;VEST3_rankscore=0.601;MetaSVM_score=-0.541;MetaSVM_rankscore=0.672;MetaSVM_pred=T;MetaLR_score=0.475;MetaLR_rankscore=0.799;MetaLR_pred=T;M-CAP_score=0.244;M-CAP_rankscore=0.889;M-CAP_pred=D;REVEL_score=0.476;REVEL_rankscore=0.771;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.390;CADD_raw_rankscore=0.348;CADD_phred=18.75;DANN_score=0.927;DANN_rankscore=0.216;fathmm-MKL_coding_score=0.462;fathmm-MKL_coding_rankscore=0.275;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.609;Eigen-PC-raw=-0.489;GenoCanyon_score=0.986;GenoCanyon_score_rankscore=0.309;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=1.72;GERP++_RS_rankscore=0.234;phyloP100way_vertebrate=0.955;phyloP100way_vertebrate_rankscore=0.286;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.493;phastCons100way_vertebrate_rankscore=0.267;phastCons20way_mammalian=0.861;phastCons20way_mammalian_rankscore=0.359;SiPhy_29way_logOdds=5.896;SiPhy_29way_logOdds_rankscore=0.181;Interpro_domain=Voltage-gated_Na+_ion_channel,_cytoplasmic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=6.644e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.131e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=5.725e-05;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.902378;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38646423 rs7428779 C T 100 PASS AC=42;AF=0.17512;AN=214;NS=2504;DP=20143;EAS_AF=0.0972;AMR_AF=0.2003;AFR_AF=0.1641;EUR_AF=0.1889;SAS_AF=0.2382;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.17512;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7428779;CLNALLELEID=251108;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1935;ExAC_nontcga_ALL=0.2187;ExAC_nontcga_AFR=0.1888;ExAC_nontcga_AMR=0.2472;ExAC_nontcga_EAS=0.1173;ExAC_nontcga_FIN=0.2094;ExAC_nontcga_NFE=0.2262;ExAC_nontcga_OTH=0.1941;ExAC_nontcga_SAS=0.2384;AF=0.1912;AF_popmax=0.2161;AF_male=0.1917;AF_female=0.1906;AF_raw=0.1913;AF_afr=0.1737;AF_sas=.;AF_amr=0.1986;AF_eas=0.0951;AF_nfe=0.2161;AF_fin=0.1695;AF_asj=0.1793;AF_oth=0.1842;non_topmed_AF_popmax=0.2146;non_neuro_AF_popmax=0.2187;non_cancer_AF_popmax=.;controls_AF_popmax=0.2360;Kaviar_AF=0.170586;Kaviar_AC=26373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.472926;ALLELE_END;VINYL_score=1 GT 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38647642 rs41312433 G T 100 PASS AC=42;AF=0.151158;AN=214;NS=2504;DP=20769;EAS_AF=0.0972;AMR_AF=0.1859;AFR_AF=0.121;EUR_AF=0.1799;SAS_AF=0.1933;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.151158;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312433;CLNALLELEID=57444;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9992;dbscSNV_RF_SCORE=0.79;esp6500siv2_ea=0.1850;ExAC_nontcga_ALL=0.1697;ExAC_nontcga_AFR=0.1242;ExAC_nontcga_AMR=0.1835;ExAC_nontcga_EAS=0.0929;ExAC_nontcga_FIN=0.1792;ExAC_nontcga_NFE=0.1811;ExAC_nontcga_OTH=0.1740;ExAC_nontcga_SAS=0.1784;AF=0.1743;AF_popmax=0.2081;AF_male=0.1731;AF_female=0.1758;AF_raw=0.1745;AF_afr=0.1286;AF_sas=.;AF_amr=0.1832;AF_eas=0.1022;AF_nfe=0.2081;AF_fin=0.1684;AF_asj=0.1724;AF_oth=0.1774;non_topmed_AF_popmax=0.2073;non_neuro_AF_popmax=0.2109;non_cancer_AF_popmax=.;controls_AF_popmax=0.2313;Kaviar_AF=0.169442;Kaviar_AC=26196;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.803424;ALLELE_END;VINYL_score=2 GT 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 +3 38649621 rs572354321 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18176;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572354321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.684e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.187e-05;AF_popmax=.;AF_male=5.727e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.063805;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38651442 rs41285129 G A 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=17600;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon7:c.C717T:p.I239I,SCN5A:NM_001099404:exon7:c.C717T:p.I239I,SCN5A:NM_001099405:exon7:c.C717T:p.I239I,SCN5A:NM_001160160:exon7:c.C717T:p.I239I,SCN5A:NM_001160161:exon7:c.C717T:p.I239I,SCN5A:NM_198056:exon7:c.C717T:p.I239I;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285129;CLNALLELEID=57479;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0067;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0118;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0040;AF_popmax=0.0044;AF_male=0.0037;AF_female=0.0044;AF_raw=0.0040;AF_afr=0.0010;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0044;AF_fin=0.0112;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0039715;Kaviar_AC=614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944546;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655354 rs189959378 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18969;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189959378;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.174e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.445e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915269;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655358 rs142957424 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18740;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142957424;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.56e-05;AF_popmax=0.0002;AF_male=5.725e-05;AF_female=0.0001;AF_raw=9.55e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.915269;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38655643 rs9856587 C T 100 PASS AC=43;AF=0.223043;AN=214;NS=2504;DP=18053;EAS_AF=0.0456;AMR_AF=0.2421;AFR_AF=0.438;EUR_AF=0.172;SAS_AF=0.1544;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.223043;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9856587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2176;AF_popmax=0.4038;AF_male=0.2194;AF_female=0.2153;AF_raw=0.2176;AF_afr=0.4038;AF_sas=.;AF_amr=0.1899;AF_eas=0.0353;AF_nfe=0.1569;AF_fin=0.1327;AF_asj=0.1207;AF_oth=0.1691;non_topmed_AF_popmax=0.4034;non_neuro_AF_popmax=0.4028;non_cancer_AF_popmax=.;controls_AF_popmax=0.3988;Kaviar_AF=0.187606;Kaviar_AC=4883;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.193966;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|1 1|0 0|1 0|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|0 +3 38662276 rs555537501 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19770;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555537501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38662310 rs371006440 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=21073;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371006440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0013;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0023;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.292862;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671768 rs41312963 G T 100 PASS AC=10;AF=0.0465256;AN=214;NS=2504;DP=17184;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1036;EUR_AF=0.0288;SAS_AF=0.0511;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0465256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41312963;CLNALLELEID=251109;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0368;ExAC_nontcga_ALL=0.0352;ExAC_nontcga_AFR=0.0860;ExAC_nontcga_AMR=0.0144;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0335;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0506;AF=0.0418;AF_popmax=0.0767;AF_male=0.0439;AF_female=0.0391;AF_raw=0.0418;AF_afr=0.0767;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0316;AF_fin=0.0262;AF_asj=0.0552;AF_oth=0.0295;non_topmed_AF_popmax=0.0765;non_neuro_AF_popmax=0.0767;non_cancer_AF_popmax=.;controls_AF_popmax=0.0750;Kaviar_AF=0.0350125;Kaviar_AC=5413;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671840 rs45533640 G A 100 PASS AC=1;AF=0.00539137;AN=214;NS=2504;DP=19295;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon3:c.C354T:p.H118H,SCN5A:NM_001099404:exon3:c.C354T:p.H118H,SCN5A:NM_001099405:exon3:c.C354T:p.H118H,SCN5A:NM_001160160:exon3:c.C354T:p.H118H,SCN5A:NM_001160161:exon3:c.C354T:p.H118H,SCN5A:NM_198056:exon3:c.C354T:p.H118H;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45533640;CLNALLELEID=57464;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0029;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0005;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0180;AF=0.0021;AF_popmax=0.0033;AF_male=0.0021;AF_female=0.0020;AF_raw=0.0021;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0009;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0041267;Kaviar_AC=638;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.885377;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38671944 rs7627488 G A 100 PASS AC=2;AF=0.0644968;AN=214;NS=2504;DP=19531;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.1944;EUR_AF=0.0179;SAS_AF=0.0317;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0644968;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7627488;CLNALLELEID=489880;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0175;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.1798;ExAC_nontcga_AMR=0.0135;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.0239;ExAC_nontcga_NFE=0.0180;ExAC_nontcga_OTH=0.0232;ExAC_nontcga_SAS=0.0450;AF=0.0611;AF_popmax=0.1737;AF_male=0.0622;AF_female=0.0597;AF_raw=0.0615;AF_afr=0.1737;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0222;AF_asj=0.0103;AF_oth=0.0267;non_topmed_AF_popmax=0.1730;non_neuro_AF_popmax=0.1679;non_cancer_AF_popmax=.;controls_AF_popmax=0.1639;Kaviar_AF=0.0311833;Kaviar_AC=4821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.466462;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674475 rs41261744 C T 100 PASS AC=11;AF=0.0385383;AN=214;NS=2504;DP=17342;EAS_AF=0.001;AMR_AF=0.0187;AFR_AF=0.0613;EUR_AF=0.0398;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41261744;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0377;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0351;AF_popmax=0.0534;AF_male=0.0372;AF_female=0.0324;AF_raw=0.0352;AF_afr=0.0534;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0351;AF_fin=0.0112;AF_asj=0.0345;AF_oth=0.0261;non_topmed_AF_popmax=0.0530;non_neuro_AF_popmax=0.0509;non_cancer_AF_popmax=.;controls_AF_popmax=0.0494;Kaviar_AF=0.0076454;Kaviar_AC=1182;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.510145;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674652 rs190996208 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=15796;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.G147A:p.E49E,SCN5A:NM_001099404:exon2:c.G147A:p.E49E,SCN5A:NM_001099405:exon2:c.G147A:p.E49E,SCN5A:NM_001160160:exon2:c.G147A:p.E49E,SCN5A:NM_001160161:exon2:c.G147A:p.E49E,SCN5A:NM_198056:exon2:c.G147A:p.E49E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190996208;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.945e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.786e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.922518;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38674712 rs6599230 T C 100 PASS AC=178;AF=0.781749;AN=214;NS=2504;DP=17646;EAS_AF=0.6677;AMR_AF=0.719;AFR_AF=0.9228;EUR_AF=0.7883;SAS_AF=0.7464;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A;1000g2015aug_all=0.781749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599230;CLNALLELEID=57481;CLNDN=Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8072;ExAC_nontcga_ALL=0.7703;ExAC_nontcga_AFR=0.8936;ExAC_nontcga_AMR=0.7188;ExAC_nontcga_EAS=0.6917;ExAC_nontcga_FIN=0.6934;ExAC_nontcga_NFE=0.7891;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7488;AF=0.7960;AF_popmax=0.8946;AF_male=0.7986;AF_female=0.7929;AF_raw=0.7956;AF_afr=0.8946;AF_sas=.;AF_amr=0.7288;AF_eas=0.7003;AF_nfe=0.7795;AF_fin=0.6961;AF_asj=0.7552;AF_oth=0.7615;non_topmed_AF_popmax=0.8949;non_neuro_AF_popmax=0.8965;non_cancer_AF_popmax=.;controls_AF_popmax=0.8930;Kaviar_AF=0.763852;Kaviar_AC=118093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1506233|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.922640;ALLELE_END;VINYL_score=2 GT 1|0 1|0 0|0 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 +3 38739353 rs188413410 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20415;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C5064T:p.I1688I,SCN10A:NM_001293306:exon27:c.C5355T:p.I1785I,SCN10A:NM_006514:exon27:c.C5358T:p.I1786I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188413410;CLNALLELEID=367530;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.634544;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739455 rs138532656 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20040;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4962T:p.D1654D,SCN10A:NM_001293306:exon27:c.C5253T:p.D1751D,SCN10A:NM_006514:exon27:c.C5256T:p.D1752D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138532656;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=6.37e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788227;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739494 rs116353929 G A 100 PASS AC=5;AF=0.014377;AN=214;NS=2504;DP=20713;EAS_AF=0.001;AMR_AF=0.0288;AFR_AF=0;EUR_AF=0.0249;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.C4923T:p.D1641D,SCN10A:NM_001293306:exon27:c.C5214T:p.D1738D,SCN10A:NM_006514:exon27:c.C5217T:p.D1739D;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116353929;CLNALLELEID=239216;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0308;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0047;ExAC_nontcga_AMR=0.0351;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0239;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0286;AF=0.0229;AF_popmax=0.0389;AF_male=0.0232;AF_female=0.0225;AF_raw=0.0230;AF_afr=0.0069;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0333;AF_fin=0.0233;AF_asj=0.0138;AF_oth=0.0257;non_topmed_AF_popmax=0.0395;non_neuro_AF_popmax=0.0361;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0256077;Kaviar_AC=3959;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.780425;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38739574 rs6599241 T C 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=22015;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599241;CLNALLELEID=251110;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.247;MutationTaster_pred=P;MutationAssessor_score=-2.12;MutationAssessor_score_rankscore=0.002;MutationAssessor_pred=N;FATHMM_score=-4.81;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=2.78;PROVEAN_converted_rankscore=0.002;PROVEAN_pred=N;VEST3_score=0.309;VEST3_rankscore=0.370;MetaSVM_score=-0.898;MetaSVM_rankscore=0.482;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.353;REVEL_rankscore=0.678;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.227;CADD_raw_rankscore=0.116;CADD_phred=4.957;DANN_score=0.457;DANN_rankscore=0.036;fathmm-MKL_coding_score=0.235;fathmm-MKL_coding_rankscore=0.219;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.691;Eigen-PC-raw=-0.345;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=6.180;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=14.472;SiPhy_29way_logOdds_rankscore=0.670;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.938267;Kaviar_AC=145058;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865245;ALLELE_END;VINYL_score=0.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 38739622 rs77804526 C T 100 PASS AC=4;AF=0.00638978;AN=214;NS=2504;DP=20858;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4795A:p.V1599I,SCN10A:NM_001293306:exon27:c.G5086A:p.V1696I,SCN10A:NM_006514:exon27:c.G5089A:p.V1697I;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77804526;CLNALLELEID=239217;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.245;SIFT_converted_rankscore=0.174;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_rankscore=0.178;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.306;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.224;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-4.9;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_converted_rankscore=0.208;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.017;MetaSVM_score=-0.027;MetaSVM_rankscore=0.817;MetaSVM_pred=T;MetaLR_score=0.627;MetaLR_rankscore=0.869;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.274;CADD_raw_rankscore=0.120;CADD_phred=5.435;DANN_score=0.701;DANN_rankscore=0.089;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_rankscore=0.115;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.002;Eigen-PC-raw=-0.948;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.097;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=0.236;GERP++_RS_rankscore=0.147;phyloP100way_vertebrate=-0.352;phyloP100way_vertebrate_rankscore=0.077;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.798;phastCons20way_mammalian_rankscore=0.336;SiPhy_29way_logOdds=3.277;SiPhy_29way_logOdds_rankscore=0.064;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0137;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0050;ExAC_nontcga_NFE=0.0145;ExAC_nontcga_OTH=0.0231;ExAC_nontcga_SAS=0.0242;AF=0.0085;AF_popmax=0.0136;AF_male=0.0088;AF_female=0.0082;AF_raw=0.0086;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0040;AF_asj=0.0207;AF_oth=0.0083;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0154;Kaviar_AF=0.0119468;Kaviar_AC=1847;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.729685;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38739845 rs6599242 A G 100 PASS AC=201;AF=0.92472;AN=214;NS=2504;DP=21262;EAS_AF=0.9514;AMR_AF=0.9121;AFR_AF=0.969;EUR_AF=0.9125;SAS_AF=0.8589;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S;1000g2015aug_all=0.92472;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6599242;CLNALLELEID=101303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9151;ExAC_nontcga_ALL=0.9192;ExAC_nontcga_AFR=0.9604;ExAC_nontcga_AMR=0.9184;ExAC_nontcga_EAS=0.9709;ExAC_nontcga_FIN=0.9342;ExAC_nontcga_NFE=0.9179;ExAC_nontcga_OTH=0.9265;ExAC_nontcga_SAS=0.8702;AF=0.9325;AF_popmax=0.9699;AF_male=0.9326;AF_female=0.9323;AF_raw=0.9324;AF_afr=0.9638;AF_sas=.;AF_amr=0.9078;AF_eas=0.9699;AF_nfe=0.9126;AF_fin=0.9378;AF_asj=0.9271;AF_oth=0.9136;non_topmed_AF_popmax=0.9691;non_neuro_AF_popmax=0.9699;non_cancer_AF_popmax=.;controls_AF_popmax=0.9705;Kaviar_AF=0.910105;Kaviar_AC=140704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900556;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 +3 38740001 rs78425180 C T 100 PASS AC=4;AF=0.0579073;AN=214;NS=2504;DP=21415;EAS_AF=0.2044;AMR_AF=0.0648;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4416A:p.T1472T,SCN10A:NM_001293306:exon27:c.G4707A:p.T1569T,SCN10A:NM_006514:exon27:c.G4710A:p.T1570T;1000g2015aug_all=0.0579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78425180;CLNALLELEID=101302;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0142;ExAC_nontcga_ALL=0.0387;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0913;ExAC_nontcga_EAS=0.2147;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0148;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0296;AF=0.0212;AF_popmax=0.2077;AF_male=0.0238;AF_female=0.0178;AF_raw=0.0212;AF_afr=0.0037;AF_sas=.;AF_amr=0.0626;AF_eas=0.2077;AF_nfe=0.0141;AF_fin=0.0052;AF_asj=0.0207;AF_oth=0.0120;non_topmed_AF_popmax=0.2056;non_neuro_AF_popmax=0.2077;non_cancer_AF_popmax=.;controls_AF_popmax=0.2162;Kaviar_AF=0.0356852;Kaviar_AC=5517;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.325116;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38743314 rs115824540 G A 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=20309;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0166;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115824540;CLNALLELEID=500483;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0133;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=0.0043;AF_popmax=0.0150;AF_male=0.0043;AF_female=0.0043;AF_raw=0.0043;AF_afr=0.0150;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0147;non_neuro_AF_popmax=0.0168;non_cancer_AF_popmax=.;controls_AF_popmax=0.0167;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38743571 rs144944369 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21754;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon25:c.C4122T:p.I1374I,SCN10A:NM_001293306:exon26:c.C4413T:p.I1471I,SCN10A:NM_006514:exon26:c.C4416T:p.I1472I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144944369;CLNALLELEID=393570;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0027;AF_popmax=0.0042;AF_male=0.0025;AF_female=0.0029;AF_raw=0.0027;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0056;non_neuro_AF_popmax=0.0043;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483915;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38743629 rs189453271 G A 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=22521;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189453271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0007;AF=0.0045;AF_popmax=0.0094;AF_male=0.0046;AF_female=0.0044;AF_raw=0.0045;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0020;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38748833 rs6790627 T C 100 PASS AC=39;AF=0.242412;AN=214;NS=2504;DP=19164;EAS_AF=0.3115;AMR_AF=0.2104;AFR_AF=0.3578;EUR_AF=0.1571;SAS_AF=0.1258;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon24:c.A4029G:p.K1343K,SCN10A:NM_001293306:exon25:c.A4320G:p.K1440K,SCN10A:NM_006514:exon25:c.A4323G:p.K1441K;1000g2015aug_all=0.242412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6790627;CLNALLELEID=367531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1430;ExAC_nontcga_ALL=0.1793;ExAC_nontcga_AFR=0.3415;ExAC_nontcga_AMR=0.2594;ExAC_nontcga_EAS=0.3323;ExAC_nontcga_FIN=0.0771;ExAC_nontcga_NFE=0.1379;ExAC_nontcga_OTH=0.1369;ExAC_nontcga_SAS=0.1419;AF=0.2001;AF_popmax=0.3356;AF_male=0.2050;AF_female=0.1940;AF_raw=0.2006;AF_afr=0.3356;AF_sas=.;AF_amr=0.2128;AF_eas=0.3295;AF_nfe=0.1390;AF_fin=0.0921;AF_asj=0.1793;AF_oth=0.1397;non_topmed_AF_popmax=0.3366;non_neuro_AF_popmax=0.3295;non_cancer_AF_popmax=.;controls_AF_popmax=0.3429;Kaviar_AF=0.174959;Kaviar_AC=27049;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.480955;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 +3 38748883 rs202063632 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202063632;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.405637;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38752386 rs139436496 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19367;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon22:c.A3798C:p.A1266A,SCN10A:NM_001293306:exon23:c.A4089C:p.A1363A,SCN10A:NM_006514:exon23:c.A4092C:p.A1364A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139436496;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.042e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.034e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.769075;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38753977 rs6781740 C T 100 PASS AC=60;AF=0.251997;AN=214;NS=2504;DP=18374;EAS_AF=0.375;AMR_AF=0.1282;AFR_AF=0.2383;EUR_AF=0.2445;SAS_AF=0.2393;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.251997;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6781740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2617;ExAC_nontcga_ALL=0.2580;ExAC_nontcga_AFR=0.2451;ExAC_nontcga_AMR=0.1142;ExAC_nontcga_EAS=0.4015;ExAC_nontcga_FIN=0.2759;ExAC_nontcga_NFE=0.2707;ExAC_nontcga_OTH=0.2729;ExAC_nontcga_SAS=0.2437;AF=0.2652;AF_popmax=0.4037;AF_male=0.2658;AF_female=0.2644;AF_raw=0.2654;AF_afr=0.2477;AF_sas=.;AF_amr=0.1321;AF_eas=0.4037;AF_nfe=0.2678;AF_fin=0.2625;AF_asj=0.3138;AF_oth=0.2702;non_topmed_AF_popmax=0.4033;non_neuro_AF_popmax=0.4037;non_cancer_AF_popmax=.;controls_AF_popmax=0.4033;Kaviar_AF=0.24609;Kaviar_AC=38046;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38755505 rs202134330 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18237;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SCN10A:NM_001293307:exon20:c.C3454T:p.R1152X,SCN10A:NM_001293306:exon21:c.C3745T:p.R1249X,SCN10A:NM_006514:exon21:c.C3748T:p.R1250X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202134330;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=11.990;CADD_raw_rankscore=0.979;CADD_phred=38;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.842;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.320;GenoCanyon_score=0.216;GenoCanyon_score_rankscore=0.183;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.3;GERP++_RS_rankscore=0.368;phyloP100way_vertebrate=2.143;phyloP100way_vertebrate_rankscore=0.416;phyloP20way_mammalian=0.978;phyloP20way_mammalian_rankscore=0.596;phastCons100way_vertebrate=0.992;phastCons100way_vertebrate_rankscore=0.373;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=12.197;SiPhy_29way_logOdds_rankscore=0.534;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.096e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338287;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38755637 rs6793226 A G 100 PASS AC=1;AF=0.0740815;AN=214;NS=2504;DP=17154;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.2519;EUR_AF=0.0169;SAS_AF=0.0102;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0740815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6793226;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0696;AF_popmax=0.2223;AF_male=0.0718;AF_female=0.0668;AF_raw=0.0697;AF_afr=0.2223;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0132;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0184;non_topmed_AF_popmax=0.2225;non_neuro_AF_popmax=0.2232;non_cancer_AF_popmax=.;controls_AF_popmax=0.2298;Kaviar_AF=0.005595;Kaviar_AC=865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38763863 rs6771157 G C 100 PASS AC=61;AF=0.219649;AN=214;NS=2504;DP=20313;EAS_AF=0.376;AMR_AF=0.121;AFR_AF=0.121;EUR_AF=0.2465;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T;1000g2015aug_all=0.219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6771157;CLNALLELEID=251111;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2602;ExAC_nontcga_ALL=0.2441;ExAC_nontcga_AFR=0.1385;ExAC_nontcga_AMR=0.1087;ExAC_nontcga_EAS=0.3971;ExAC_nontcga_FIN=0.2743;ExAC_nontcga_NFE=0.2679;ExAC_nontcga_OTH=0.2666;ExAC_nontcga_SAS=0.2297;AF=0.2342;AF_popmax=0.4037;AF_male=0.2349;AF_female=0.2333;AF_raw=0.2343;AF_afr=0.1390;AF_sas=.;AF_amr=0.1229;AF_eas=0.4037;AF_nfe=0.2670;AF_fin=0.2627;AF_asj=0.3034;AF_oth=0.2634;non_topmed_AF_popmax=0.4033;non_neuro_AF_popmax=0.4037;non_cancer_AF_popmax=.;controls_AF_popmax=0.4028;Kaviar_AF=0.239654;Kaviar_AC=37051;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.433880;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38764998 rs12632942 A G 100 PASS AC=61;AF=0.219649;AN=214;NS=2504;DP=19013;EAS_AF=0.376;AMR_AF=0.121;AFR_AF=0.121;EUR_AF=0.2465;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon17:c.T2981C:p.L994P,SCN10A:NM_001293306:exon18:c.T3272C:p.L1091P,SCN10A:NM_006514:exon18:c.T3275C:p.L1092P;1000g2015aug_all=0.219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12632942;CLNALLELEID=251112;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.604;SIFT_converted_rankscore=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.394;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=-0.72;MutationAssessor_score_rankscore=0.018;MutationAssessor_pred=N;FATHMM_score=-1.72;FATHMM_converted_rankscore=0.833;FATHMM_pred=D;PROVEAN_score=3.19;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.997;MetaSVM_rankscore=0.308;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.961;CADD_raw_rankscore=0.186;CADD_phred=10.43;DANN_score=0.836;DANN_rankscore=0.143;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.029;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.229;Eigen-PC-raw=-1.185;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-0.53;GERP++_RS_rankscore=0.113;phyloP100way_vertebrate=-0.776;phyloP100way_vertebrate_rankscore=0.047;phyloP20way_mammalian=-0.231;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=11.785;SiPhy_29way_logOdds_rankscore=0.511;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.26;ExAC_nontcga_ALL=0.2826;ExAC_nontcga_AFR=0.1607;ExAC_nontcga_AMR=0.1448;ExAC_nontcga_EAS=0.4402;ExAC_nontcga_FIN=0.3188;ExAC_nontcga_NFE=0.3097;ExAC_nontcga_OTH=0.3010;ExAC_nontcga_SAS=0.2527;AF=0.2344;AF_popmax=0.4045;AF_male=0.2352;AF_female=0.2333;AF_raw=0.2343;AF_afr=0.1398;AF_sas=.;AF_amr=0.1241;AF_eas=0.4045;AF_nfe=0.2672;AF_fin=0.2628;AF_asj=0.3034;AF_oth=0.2616;non_topmed_AF_popmax=0.4036;non_neuro_AF_popmax=0.4045;non_cancer_AF_popmax=.;controls_AF_popmax=0.4035;Kaviar_AF=0.237862;Kaviar_AC=36774;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.271556;ALLELE_END;VINYL_score=0.5 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 +3 38765075 rs138746965 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138746965;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0012;AF=3.185e-05;AF_popmax=.;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.395093;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38766675 rs6795970 A G 100 PASS AC=130;AF=0.757987;AN=214;NS=2504;DP=19128;EAS_AF=0.8194;AMR_AF=0.6441;AFR_AF=0.9478;EUR_AF=0.5905;SAS_AF=0.6912;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A;1000g2015aug_all=0.757987;GWAS=rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063;ORegAnno_REGULATORY_P=rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063;avsnp150=rs6795970;CLNALLELEID=251113;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-3.69;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.004;VEST3_rankscore=0.003;MetaSVM_score=-0.912;MetaSVM_rankscore=0.467;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.211;REVEL_rankscore=0.507;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.943;CADD_raw_rankscore=0.034;CADD_phred=0.021;DANN_score=0.538;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.017;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.612;Eigen-PC-raw=-1.642;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-4.56;GERP++_RS_rankscore=0.032;phyloP100way_vertebrate=-1.044;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=-0.733;phyloP20way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=0.783;SiPhy_29way_logOdds_rankscore=0.010;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6019;ExAC_nontcga_ALL=0.6619;ExAC_nontcga_AFR=0.9099;ExAC_nontcga_AMR=0.6798;ExAC_nontcga_EAS=0.8451;ExAC_nontcga_FIN=0.5514;ExAC_nontcga_NFE=0.6060;ExAC_nontcga_OTH=0.6134;ExAC_nontcga_SAS=0.6560;AF=0.7044;AF_popmax=0.9118;AF_male=0.7118;AF_female=0.6950;AF_raw=0.7040;AF_afr=0.9118;AF_sas=.;AF_amr=0.6856;AF_eas=0.8671;AF_nfe=0.6172;AF_fin=0.5317;AF_asj=0.6103;AF_oth=0.6351;non_topmed_AF_popmax=0.9118;non_neuro_AF_popmax=0.9186;non_cancer_AF_popmax=.;controls_AF_popmax=0.9229;Kaviar_AF=0.648258;Kaviar_AC=100222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.896503;ALLELE_END;VINYL_score=1.5 GT 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 +3 38766701 rs6791171 C T 100 PASS AC=17;AF=0.115415;AN=214;NS=2504;DP=19183;EAS_AF=0.002;AMR_AF=0.1383;AFR_AF=0.1967;EUR_AF=0.1322;SAS_AF=0.089;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T;1000g2015aug_all=0.115415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6791171;CLNALLELEID=251114;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1414;ExAC_nontcga_ALL=0.1231;ExAC_nontcga_AFR=0.2068;ExAC_nontcga_AMR=0.1180;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1107;ExAC_nontcga_NFE=0.1400;ExAC_nontcga_OTH=0.1177;ExAC_nontcga_SAS=0.0882;AF=0.1534;AF_popmax=0.2122;AF_male=0.1561;AF_female=0.1500;AF_raw=0.1537;AF_afr=0.2122;AF_sas=.;AF_amr=0.1368;AF_eas=0;AF_nfe=0.1503;AF_fin=0.1002;AF_asj=0.1103;AF_oth=0.1418;non_topmed_AF_popmax=0.2117;non_neuro_AF_popmax=0.2173;non_cancer_AF_popmax=.;controls_AF_popmax=0.2207;Kaviar_AF=0.126564;Kaviar_AC=19567;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.136024;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 38766825 rs11129804 A G 100 PASS AC=13;AF=0.0844649;AN=214;NS=2504;DP=18661;EAS_AF=0.1062;AMR_AF=0.0865;AFR_AF=0.0658;EUR_AF=0.0547;SAS_AF=0.1166;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0844649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11129804;CLNALLELEID=367220;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0492;ExAC_nontcga_ALL=0.0717;ExAC_nontcga_AFR=0.0552;ExAC_nontcga_AMR=0.1223;ExAC_nontcga_EAS=0.1193;ExAC_nontcga_FIN=0.0440;ExAC_nontcga_NFE=0.0508;ExAC_nontcga_OTH=0.0439;ExAC_nontcga_SAS=0.1114;AF=0.0532;AF_popmax=0.1207;AF_male=0.0517;AF_female=0.0550;AF_raw=0.0532;AF_afr=0.0505;AF_sas=.;AF_amr=0.1038;AF_eas=0.1207;AF_nfe=0.0479;AF_fin=0.0403;AF_asj=0.0586;AF_oth=0.0526;non_topmed_AF_popmax=0.1211;non_neuro_AF_popmax=0.1207;non_cancer_AF_popmax=.;controls_AF_popmax=0.1321;Kaviar_AF=0.0616163;Kaviar_AC=9526;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1250038|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768212 rs138413438 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20455;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2678T:p.P893L,SCN10A:NM_001293306:exon16:c.C2972T:p.P991L,SCN10A:NM_006514:exon16:c.C2972T:p.P991L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138413438;CLNALLELEID=239228;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_rankscore=0.592;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.71;Polyphen2_HVAR_rankscore=0.527;Polyphen2_HVAR_pred=P;LRT_score=0.102;LRT_converted_rankscore=0.198;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.17;MutationAssessor_score_rankscore=0.609;MutationAssessor_pred=M;FATHMM_score=-1.94;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-7.81;PROVEAN_converted_rankscore=0.959;PROVEAN_pred=D;VEST3_score=0.445;VEST3_rankscore=0.499;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.624;MetaLR_rankscore=0.868;MetaLR_pred=D;M-CAP_score=0.051;M-CAP_rankscore=0.644;M-CAP_pred=D;REVEL_score=0.405;REVEL_rankscore=0.721;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.779;CADD_raw_rankscore=0.641;CADD_phred=24.7;DANN_score=0.998;DANN_rankscore=0.851;fathmm-MKL_coding_score=0.708;fathmm-MKL_coding_rankscore=0.345;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.263;Eigen-PC-raw=0.147;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=3.87;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=3.433;phyloP100way_vertebrate_rankscore=0.523;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.021;phastCons20way_mammalian_rankscore=0.135;SiPhy_29way_logOdds=16.450;SiPhy_29way_logOdds_rankscore=0.837;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0007;AF_popmax=0.0013;AF_male=0.0005;AF_female=0.0009;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.060883;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768247 rs59468016 G A 100 PASS AC=70;AF=0.190495;AN=214;NS=2504;DP=19690;EAS_AF=0.373;AMR_AF=0.1081;AFR_AF=0.0151;EUR_AF=0.2525;SAS_AF=0.2342;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G;1000g2015aug_all=0.190495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59468016;CLNALLELEID=251115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2614;ExAC_nontcga_ALL=0.2357;ExAC_nontcga_AFR=0.0456;ExAC_nontcga_AMR=0.1037;ExAC_nontcga_EAS=0.3981;ExAC_nontcga_FIN=0.2736;ExAC_nontcga_NFE=0.2677;ExAC_nontcga_OTH=0.2550;ExAC_nontcga_SAS=0.2313;AF=0.2074;AF_popmax=0.4042;AF_male=0.2075;AF_female=0.2071;AF_raw=0.2074;AF_afr=0.0483;AF_sas=.;AF_amr=0.1191;AF_eas=0.4042;AF_nfe=0.2663;AF_fin=0.2583;AF_asj=0.2897;AF_oth=0.2482;non_topmed_AF_popmax=0.4038;non_neuro_AF_popmax=0.4042;non_cancer_AF_popmax=.;controls_AF_popmax=0.4004;Kaviar_AF=0.231646;Kaviar_AC=35813;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.200632;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38768300 rs57326399 T C 100 PASS AC=70;AF=0.210663;AN=214;NS=2504;DP=19922;EAS_AF=0.373;AMR_AF=0.1153;AFR_AF=0.0862;EUR_AF=0.2545;SAS_AF=0.2342;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V;1000g2015aug_all=0.210663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57326399;CLNALLELEID=101300;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.117;SIFT_converted_rankscore=0.282;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_rankscore=0.340;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.87;MutationAssessor_score_rankscore=0.215;MutationAssessor_pred=L;FATHMM_score=-1.77;FATHMM_converted_rankscore=0.837;FATHMM_pred=D;PROVEAN_score=0.18;PROVEAN_converted_rankscore=0.050;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-1.095;MetaSVM_rankscore=0.048;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.190;REVEL_rankscore=0.473;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.544;CADD_raw_rankscore=0.016;CADD_phred=0.002;DANN_score=0.344;DANN_rankscore=0.021;fathmm-MKL_coding_score=0.064;fathmm-MKL_coding_rankscore=0.122;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.324;Eigen-PC-raw=-1.404;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.526;integrated_fitCons_score_rankscore=0.212;integrated_confidence_value=0;GERP++_RS=-4.17;GERP++_RS_rankscore=0.036;phyloP100way_vertebrate=0.434;phyloP100way_vertebrate_rankscore=0.211;phyloP20way_mammalian=-0.205;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.965;phastCons20way_mammalian_rankscore=0.450;SiPhy_29way_logOdds=6.362;SiPhy_29way_logOdds_rankscore=0.205;Interpro_domain=Sodium_ion_transport-associated;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2620;ExAC_nontcga_ALL=0.2419;ExAC_nontcga_AFR=0.1109;ExAC_nontcga_AMR=0.1062;ExAC_nontcga_EAS=0.3978;ExAC_nontcga_FIN=0.2734;ExAC_nontcga_NFE=0.2684;ExAC_nontcga_OTH=0.2550;ExAC_nontcga_SAS=0.2315;AF=0.2245;AF_popmax=0.4039;AF_male=0.2256;AF_female=0.2231;AF_raw=0.2248;AF_afr=0.1092;AF_sas=.;AF_amr=0.1215;AF_eas=0.4039;AF_nfe=0.2664;AF_fin=0.2583;AF_asj=0.2931;AF_oth=0.2523;non_topmed_AF_popmax=0.4034;non_neuro_AF_popmax=0.4039;non_cancer_AF_popmax=.;controls_AF_popmax=0.3998;Kaviar_AF=0.235411;Kaviar_AC=36395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.896335;ALLELE_END;VINYL_score=0.5 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38768334 rs7374804 T C 100 PASS AC=17;AF=0.135982;AN=214;NS=2504;DP=20020;EAS_AF=0.2599;AMR_AF=0.1037;AFR_AF=0.1051;EUR_AF=0.0636;SAS_AF=0.1472;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2556G:p.K852K,SCN10A:NM_001293306:exon16:c.A2850G:p.K950K,SCN10A:NM_006514:exon16:c.A2850G:p.K950K;1000g2015aug_all=0.135982;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7374804;CLNALLELEID=367520;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0648;ExAC_nontcga_ALL=0.0965;ExAC_nontcga_AFR=0.0879;ExAC_nontcga_AMR=0.1273;ExAC_nontcga_EAS=0.2705;ExAC_nontcga_FIN=0.0482;ExAC_nontcga_NFE=0.0638;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.1255;AF=0.0796;AF_popmax=0.2752;AF_male=0.0805;AF_female=0.0784;AF_raw=0.0798;AF_afr=0.0867;AF_sas=.;AF_amr=0.1126;AF_eas=0.2752;AF_nfe=0.0621;AF_fin=0.0478;AF_asj=0.0828;AF_oth=0.0673;non_topmed_AF_popmax=0.2728;non_neuro_AF_popmax=0.2752;non_cancer_AF_popmax=.;controls_AF_popmax=0.2923;Kaviar_AF=0.0912989;Kaviar_AC=14115;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.434816;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38768427 rs200993949 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20358;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2463A:p.V821V,SCN10A:NM_001293306:exon16:c.C2757A:p.V919V,SCN10A:NM_006514:exon16:c.C2757A:p.V919V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200993949;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345942;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38768609 rs572806703 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19736;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572806703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.369e-05;AF_popmax=0.0012;AF_male=5.723e-05;AF_female=7.178e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=7.341e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38769983 rs141622599 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18338;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141622599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.095e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.873e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38770391 rs139988577 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18888;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon14:c.T1988C:p.L663P,SCN10A:NM_001293306:exon15:c.T2282C:p.L761P,SCN10A:NM_006514:exon15:c.T2282C:p.L761P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139988577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.92;MutationAssessor_score_rankscore=0.963;MutationAssessor_pred=H;FATHMM_score=-5.43;FATHMM_converted_rankscore=0.991;FATHMM_pred=D;PROVEAN_score=-6.74;PROVEAN_converted_rankscore=0.926;PROVEAN_pred=D;VEST3_score=0.99;VEST3_rankscore=0.994;MetaSVM_score=1.021;MetaSVM_rankscore=0.976;MetaSVM_pred=D;MetaLR_score=0.984;MetaLR_rankscore=0.995;MetaLR_pred=D;M-CAP_score=0.723;M-CAP_rankscore=0.978;M-CAP_pred=D;REVEL_score=0.945;REVEL_rankscore=0.989;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.824;CADD_raw_rankscore=0.797;CADD_phred=27.2;DANN_score=0.999;DANN_rankscore=0.970;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.873;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.952;Eigen-PC-raw=0.814;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=9.269;phyloP100way_vertebrate_rankscore=0.949;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.725;phastCons20way_mammalian_rankscore=0.315;SiPhy_29way_logOdds=14.559;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.1749;dbscSNV_RF_SCORE=0.444;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.959e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.751e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.575404;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38780971 rs9830687 G A 100 PASS AC=42;AF=0.1873;AN=214;NS=2504;DP=7849;EAS_AF=0.0079;AMR_AF=0.2118;AFR_AF=0.2716;EUR_AF=0.2465;SAS_AF=0.18;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1873;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9830687;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2509;ExAC_nontcga_ALL=0.2211;ExAC_nontcga_AFR=0.2858;ExAC_nontcga_AMR=0.1842;ExAC_nontcga_EAS=0.0116;ExAC_nontcga_FIN=0.2194;ExAC_nontcga_NFE=0.2540;ExAC_nontcga_OTH=0.2320;ExAC_nontcga_SAS=0.1986;AF=0.2498;AF_popmax=0.2888;AF_male=0.2505;AF_female=0.2490;AF_raw=0.2500;AF_afr=0.2888;AF_sas=.;AF_amr=0.1993;AF_eas=0.0077;AF_nfe=0.2643;AF_fin=0.2113;AF_asj=0.2138;AF_oth=0.2532;non_topmed_AF_popmax=0.2883;non_neuro_AF_popmax=0.3006;non_cancer_AF_popmax=.;controls_AF_popmax=0.3014;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 38784010 rs139209095 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18602;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon12:c.G1584T:p.E528D,SCN10A:NM_001293306:exon13:c.G1878T:p.E626D,SCN10A:NM_006514:exon13:c.G1878T:p.E626D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139209095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.176;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.767;MutationTaster_converted_rankscore=0.295;MutationTaster_pred=N;MutationAssessor_score=1.715;MutationAssessor_score_rankscore=0.445;MutationAssessor_pred=L;FATHMM_score=-4.33;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=-2.37;PROVEAN_converted_rankscore=0.522;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=0.303;MetaSVM_rankscore=0.876;MetaSVM_pred=D;MetaLR_score=0.787;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=0.095;M-CAP_rankscore=0.764;M-CAP_pred=D;REVEL_score=0.282;REVEL_rankscore=0.604;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.858;CADD_raw_rankscore=0.404;CADD_phred=21.7;DANN_score=0.994;DANN_rankscore=0.621;fathmm-MKL_coding_score=0.375;fathmm-MKL_coding_rankscore=0.256;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.499;Eigen-PC-raw=-0.453;GenoCanyon_score=0.036;GenoCanyon_score_rankscore=0.142;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=1.55;GERP++_RS_rankscore=0.222;phyloP100way_vertebrate=-0.166;phyloP100way_vertebrate_rankscore=0.099;phyloP20way_mammalian=0.042;phyloP20way_mammalian_rankscore=0.156;phastCons100way_vertebrate=0.244;phastCons100way_vertebrate_rankscore=0.246;phastCons20way_mammalian=0.587;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=5.387;SiPhy_29way_logOdds_rankscore=0.154;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.429e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.500608;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38784029 rs6599250 T C 100 PASS AC=131;AF=0.757788;AN=214;NS=2504;DP=19126;EAS_AF=0.8373;AMR_AF=0.6239;AFR_AF=0.9501;EUR_AF=0.5865;SAS_AF=0.6871;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.757788;GWAS=rs6599250|PR-interval|3.8|4E-242|PMID:30046033;ORegAnno_REGULATORY_P=rs6599250|PR-interval|3.8|4E-242|PMID:30046033;avsnp150=rs6599250;CLNALLELEID=251116;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.01;esp6500siv2_ea=0.5951;ExAC_nontcga_ALL=0.6571;ExAC_nontcga_AFR=0.9095;ExAC_nontcga_AMR=0.6794;ExAC_nontcga_EAS=0.8585;ExAC_nontcga_FIN=0.5418;ExAC_nontcga_NFE=0.5996;ExAC_nontcga_OTH=0.6055;ExAC_nontcga_SAS=0.6456;AF=0.6999;AF_popmax=0.9108;AF_male=0.7073;AF_female=0.6905;AF_raw=0.6995;AF_afr=0.9108;AF_sas=.;AF_amr=0.6785;AF_eas=0.8735;AF_nfe=0.6099;AF_fin=0.5250;AF_asj=0.6285;AF_oth=0.6326;non_topmed_AF_popmax=0.9107;non_neuro_AF_popmax=0.9171;non_cancer_AF_popmax=.;controls_AF_popmax=0.9210;Kaviar_AF=0.642851;Kaviar_AC=99386;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.443089;ALLELE_END;VINYL_score=-1 GT 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 1|0 1|1 1|0 1|1 0|0 1|0 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|0 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|0 1|1 1|0 1|0 1|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 +3 38784056 rs7618620 A C 100 PASS AC=5;AF=0.137979;AN=214;NS=2504;DP=19248;EAS_AF=0.2014;AMR_AF=0.0865;AFR_AF=0.2126;EUR_AF=0.0268;SAS_AF=0.1227;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7618620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0297;ExAC_nontcga_ALL=0.0785;ExAC_nontcga_AFR=0.2145;ExAC_nontcga_AMR=0.1100;ExAC_nontcga_EAS=0.1978;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0294;ExAC_nontcga_OTH=0.0692;ExAC_nontcga_SAS=0.1165;AF=0.0864;AF_popmax=0.2046;AF_male=0.0902;AF_female=0.0817;AF_raw=0.0868;AF_afr=0.2034;AF_sas=.;AF_amr=0.0873;AF_eas=0.2046;AF_nfe=0.0290;AF_fin=0.0127;AF_asj=0.0586;AF_oth=0.0414;non_topmed_AF_popmax=0.2036;non_neuro_AF_popmax=0.2046;non_cancer_AF_popmax=.;controls_AF_popmax=0.2105;Kaviar_AF=0.0722759;Kaviar_AC=11174;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.946063;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38791482 rs12494065 C T 100 PASS AC=5;AF=0.137979;AN=214;NS=2504;DP=21147;EAS_AF=0.2004;AMR_AF=0.0865;AFR_AF=0.2042;EUR_AF=0.0268;SAS_AF=0.135;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.137979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12494065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0849;AF_popmax=0.2066;AF_male=0.0886;AF_female=0.0802;AF_raw=0.0851;AF_afr=0.1994;AF_sas=.;AF_amr=0.0861;AF_eas=0.2066;AF_nfe=0.0279;AF_fin=0.0127;AF_asj=0.0517;AF_oth=0.0423;non_topmed_AF_popmax=0.2045;non_neuro_AF_popmax=0.2066;non_cancer_AF_popmax=.;controls_AF_popmax=0.2133;Kaviar_AF=0.0126518;Kaviar_AC=1956;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38791507 rs12054245 C T 100 PASS AC=13;AF=0.0880591;AN=214;NS=2504;DP=20640;EAS_AF=0.1012;AMR_AF=0.0879;AFR_AF=0.0877;EUR_AF=0.0557;SAS_AF=0.1084;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0880591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12054245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0565;AF_popmax=0.1129;AF_male=0.0548;AF_female=0.0586;AF_raw=0.0566;AF_afr=0.0648;AF_sas=.;AF_amr=0.1038;AF_eas=0.1129;AF_nfe=0.0476;AF_fin=0.0394;AF_asj=0.0552;AF_oth=0.0534;non_topmed_AF_popmax=0.1131;non_neuro_AF_popmax=0.1129;non_cancer_AF_popmax=.;controls_AF_popmax=0.1217;Kaviar_AF=0.0089779;Kaviar_AC=1388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.617260;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38793940 rs7630989 A G 100 PASS AC=5;AF=0.139976;AN=214;NS=2504;DP=18536;EAS_AF=0.2004;AMR_AF=0.0865;AFR_AF=0.2118;EUR_AF=0.0268;SAS_AF=0.135;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.T1525C:p.S509P,SCN10A:NM_006514:exon11:c.T1525C:p.S509P;1000g2015aug_all=0.139976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7630989;CLNALLELEID=367529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.16;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.008;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_score_rankscore=0.094;MutationAssessor_pred=N;FATHMM_score=-3.81;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_converted_rankscore=0.273;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.026;MetaSVM_score=-0.811;MetaSVM_rankscore=0.545;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.001;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.231;REVEL_rankscore=0.537;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.356;CADD_raw_rankscore=0.064;CADD_phred=0.492;DANN_score=0.932;DANN_rankscore=0.223;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_rankscore=0.079;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.348;Eigen-PC-raw=-1.329;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.050;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-0.45;GERP++_RS_rankscore=0.116;phyloP100way_vertebrate=-0.663;phyloP100way_vertebrate_rankscore=0.054;phyloP20way_mammalian=-0.291;phyloP20way_mammalian_rankscore=0.083;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=1.015;SiPhy_29way_logOdds_rankscore=0.014;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0789;ExAC_nontcga_AFR=0.2152;ExAC_nontcga_AMR=0.1089;ExAC_nontcga_EAS=0.1979;ExAC_nontcga_FIN=0.0091;ExAC_nontcga_NFE=0.0283;ExAC_nontcga_OTH=0.0674;ExAC_nontcga_SAS=0.1237;AF=0.0858;AF_popmax=0.2050;AF_male=0.0895;AF_female=0.0811;AF_raw=0.0858;AF_afr=0.2023;AF_sas=.;AF_amr=0.0861;AF_eas=0.2050;AF_nfe=0.0280;AF_fin=0.0127;AF_asj=0.0517;AF_oth=0.0434;non_topmed_AF_popmax=0.2029;non_neuro_AF_popmax=0.2050;non_cancer_AF_popmax=.;controls_AF_popmax=0.2105;Kaviar_AF=0.0723859;Kaviar_AC=11191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.103293;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38793989 rs7617919 G A 100 PASS AC=70;AF=0.207668;AN=214;NS=2504;DP=18386;EAS_AF=0.373;AMR_AF=0.1052;AFR_AF=0.0787;EUR_AF=0.2495;SAS_AF=0.2413;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L;1000g2015aug_all=0.207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7617919;CLNALLELEID=251117;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2523;ExAC_nontcga_ALL=0.2442;ExAC_nontcga_AFR=0.1139;ExAC_nontcga_AMR=0.1013;ExAC_nontcga_EAS=0.4065;ExAC_nontcga_FIN=0.2684;ExAC_nontcga_NFE=0.2635;ExAC_nontcga_OTH=0.2606;ExAC_nontcga_SAS=0.2591;AF=0.2182;AF_popmax=0.4045;AF_male=0.2194;AF_female=0.2166;AF_raw=0.2183;AF_afr=0.1061;AF_sas=.;AF_amr=0.1194;AF_eas=0.4045;AF_nfe=0.2587;AF_fin=0.2475;AF_asj=0.2931;AF_oth=0.2403;non_topmed_AF_popmax=0.4041;non_neuro_AF_popmax=0.4045;non_cancer_AF_popmax=.;controls_AF_popmax=0.4011;Kaviar_AF=0.229538;Kaviar_AC=35487;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.526908;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38798171 rs62244070 C T 100 PASS AC=70;AF=0.207468;AN=214;NS=2504;DP=19656;EAS_AF=0.372;AMR_AF=0.1052;AFR_AF=0.0794;EUR_AF=0.2485;SAS_AF=0.2413;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E;1000g2015aug_all=0.207468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62244070;CLNALLELEID=251118;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2509;ExAC_nontcga_ALL=0.2353;ExAC_nontcga_AFR=0.1070;ExAC_nontcga_AMR=0.1004;ExAC_nontcga_EAS=0.4035;ExAC_nontcga_FIN=0.2622;ExAC_nontcga_NFE=0.2579;ExAC_nontcga_OTH=0.2421;ExAC_nontcga_SAS=0.2316;AF=0.2170;AF_popmax=0.4034;AF_male=0.2181;AF_female=0.2156;AF_raw=0.2174;AF_afr=0.1054;AF_sas=.;AF_amr=0.1167;AF_eas=0.4034;AF_nfe=0.2570;AF_fin=0.2468;AF_asj=0.2931;AF_oth=0.2408;non_topmed_AF_popmax=0.4024;non_neuro_AF_popmax=0.4034;non_cancer_AF_popmax=.;controls_AF_popmax=0.4;Kaviar_AF=0.227681;Kaviar_AC=35200;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.455034;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|0 1|1 1|0 +3 38802155 rs188914048 A G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20852;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188914048;CLNALLELEID=500810;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0004;AF=0.0018;AF_popmax=0.0035;AF_male=0.0019;AF_female=0.0017;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0012;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0021539;Kaviar_AC=333;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 38802251 rs7641844 A G 100 PASS AC=77;AF=0.388778;AN=214;NS=2504;DP=20125;EAS_AF=0.6815;AMR_AF=0.2522;AFR_AF=0.3275;EUR_AF=0.2793;SAS_AF=0.3793;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.388778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7641844;CLNALLELEID=251119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2826;ExAC_nontcga_ALL=0.3336;ExAC_nontcga_AFR=0.3551;ExAC_nontcga_AMR=0.2871;ExAC_nontcga_EAS=0.6880;ExAC_nontcga_FIN=0.2705;ExAC_nontcga_NFE=0.2881;ExAC_nontcga_OTH=0.3213;ExAC_nontcga_SAS=0.3606;AF=0.3211;AF_popmax=0.7030;AF_male=0.3269;AF_female=0.3138;AF_raw=0.3212;AF_afr=0.3435;AF_sas=.;AF_amr=0.2901;AF_eas=0.7030;AF_nfe=0.2872;AF_fin=0.2591;AF_asj=0.3552;AF_oth=0.2904;non_topmed_AF_popmax=0.7021;non_neuro_AF_popmax=0.7030;non_cancer_AF_popmax=.;controls_AF_popmax=0.6963;Kaviar_AF=0.321044;Kaviar_AC=49634;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 0|1 0|1 0|0 1|1 0|1 1|0 1|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|0 0|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|0 +3 38802620 rs570058097;rs573308926 TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 100 PASS AC=3;AF=0.0091853;AN=214;NS=2504;DP=21109;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0041;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs573308926;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0162;AF_popmax=0.0236;AF_male=0.0159;AF_female=0.0164;AF_raw=0.0163;AF_afr=0.0040;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0236;AF_fin=0.0175;AF_asj=0.0276;AF_oth=0.0257;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0235;non_cancer_AF_popmax=.;controls_AF_popmax=0.0185;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38804951 rs145644439 G A 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=22686;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145644439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0024;AF=0.0023;AF_popmax=0.0040;AF_male=0.0021;AF_female=0.0026;AF_raw=0.0023;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0009;AF_asj=0.0103;AF_oth=0.0028;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0031436;Kaviar_AC=486;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38805069 rs74717885 T C 100 PASS AC=4;AF=0.0419329;AN=214;NS=2504;DP=22418;EAS_AF=0.1587;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0327;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon5:c.A618G:p.I206M,SCN10A:NM_001293307:exon5:c.A618G:p.I206M,SCN10A:NM_006514:exon5:c.A618G:p.I206M;1000g2015aug_all=0.0419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74717885;CLNALLELEID=368585;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.656;LRT_converted_rankscore=0.105;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=1.185;MutationAssessor_score_rankscore=0.302;MutationAssessor_pred=L;FATHMM_score=-4.89;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-1.81;PROVEAN_converted_rankscore=0.425;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.028;MetaSVM_score=-0.565;MetaSVM_rankscore=0.662;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.056;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.195;REVEL_rankscore=0.481;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.807;CADD_raw_rankscore=0.278;CADD_phred=15.03;DANN_score=0.913;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_rankscore=0.208;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.957;Eigen-PC-raw=-0.960;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.054;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-0.839;GERP++_RS_rankscore=0.102;phyloP100way_vertebrate=-0.537;phyloP100way_vertebrate_rankscore=0.062;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.917;phastCons20way_mammalian_rankscore=0.393;SiPhy_29way_logOdds=1.478;SiPhy_29way_logOdds_rankscore=0.023;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0159;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0.1493;ExAC_nontcga_FIN=0.0070;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0362;AF=0.0177;AF_popmax=0.1577;AF_male=0.0203;AF_female=0.0145;AF_raw=0.0177;AF_afr=0.0026;AF_sas=.;AF_amr=0.0071;AF_eas=0.1577;AF_nfe=0.0149;AF_fin=0.0075;AF_asj=0.0310;AF_oth=0.0147;non_topmed_AF_popmax=0.1551;non_neuro_AF_popmax=0.1577;non_cancer_AF_popmax=.;controls_AF_popmax=0.1638;Kaviar_AF=0.0243852;Kaviar_AC=3770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.229262;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38805130 rs73826327 C G 100 PASS AC=7;AF=0.11901;AN=214;NS=2504;DP=21498;EAS_AF=0.1587;AMR_AF=0.0389;AFR_AF=0.2322;EUR_AF=0.0437;SAS_AF=0.0593;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.11901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73826327;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.2056;ExAC_nontcga_AMR=0.0285;ExAC_nontcga_EAS=0.1504;ExAC_nontcga_FIN=0.0362;ExAC_nontcga_NFE=0.0464;ExAC_nontcga_OTH=0.0751;ExAC_nontcga_SAS=0.0751;AF=0.0944;AF_popmax=0.1935;AF_male=0.0970;AF_female=0.0912;AF_raw=0.0947;AF_afr=0.1935;AF_sas=.;AF_amr=0.0355;AF_eas=0.1568;AF_nfe=0.0481;AF_fin=0.0518;AF_asj=0.0903;AF_oth=0.0535;non_topmed_AF_popmax=0.1936;non_neuro_AF_popmax=0.1912;non_cancer_AF_popmax=.;controls_AF_popmax=0.1927;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 38805157 rs78916443 G A 100 PASS AC=6;AF=0.00279553;AN=214;NS=2504;DP=21338;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.0031;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78916443;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0069;AF_popmax=0.0106;AF_male=0.0067;AF_female=0.0071;AF_raw=0.0069;AF_afr=0.0020;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0035;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0017011;Kaviar_AC=263;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1281719|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38812708 rs4420804 C T 100 PASS AC=77;AF=0.416334;AN=214;NS=2504;DP=19730;EAS_AF=0.3085;AMR_AF=0.5043;AFR_AF=0.4629;EUR_AF=0.3837;SAS_AF=0.4356;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.416334;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4420804;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4031;AF_popmax=0.5637;AF_male=0.4030;AF_female=0.4033;AF_raw=0.4033;AF_afr=0.4853;AF_sas=.;AF_amr=0.5637;AF_eas=0.3217;AF_nfe=0.3809;AF_fin=0.3084;AF_asj=0.3586;AF_oth=0.3662;non_topmed_AF_popmax=0.5593;non_neuro_AF_popmax=0.5307;non_cancer_AF_popmax=.;controls_AF_popmax=0.5047;Kaviar_AF=0.0821852;Kaviar_AC=12706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|1 1|1 0|0 0|1 1|1 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 +3 38835173 rs139643125 T A 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=15364;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0015;EUR_AF=0.004;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139643125;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0071;AF_popmax=0.0130;AF_male=0.0074;AF_female=0.0068;AF_raw=0.0071;AF_afr=0.0021;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0063;AF_asj=0.0276;AF_oth=0.0119;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835457 rs34314583 G A 100 PASS AC=4;AF=0.00299521;AN=214;NS=2504;DP=19492;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.C45T:p.R15R,SCN10A:NM_001293307:exon1:c.C45T:p.R15R,SCN10A:NM_006514:exon1:c.C45T:p.R15R;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34314583;CLNALLELEID=239236;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0107;ExAC_nontcga_ALL=0.0050;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0122;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0070;AF_popmax=0.0105;AF_male=0.0064;AF_female=0.0078;AF_raw=0.0071;AF_afr=0.0017;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0105;AF_fin=0.0092;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0117;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0130;Kaviar_AF=0.0056338;Kaviar_AC=871;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461943;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835461 rs141207048 C A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=19784;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.G41T:p.R14L,SCN10A:NM_001293307:exon1:c.G41T:p.R14L,SCN10A:NM_006514:exon1:c.G41T:p.R14L;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141207048;CLNALLELEID=393828;CLNDN=Brugada_syndrome|Episodic_pain_syndrome,_familial,_2|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3809893,OMIM:615551|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_rankscore=0.536;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.905;MutationTaster_converted_rankscore=0.363;MutationTaster_pred=D;MutationAssessor_score=3.475;MutationAssessor_score_rankscore=0.927;MutationAssessor_pred=M;FATHMM_score=-4.05;FATHMM_converted_rankscore=0.965;FATHMM_pred=D;PROVEAN_score=-3.81;PROVEAN_converted_rankscore=0.718;PROVEAN_pred=D;VEST3_score=0.435;VEST3_rankscore=0.495;MetaSVM_score=0.841;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.877;MetaLR_rankscore=0.959;MetaLR_pred=D;M-CAP_score=0.380;M-CAP_rankscore=0.930;M-CAP_pred=D;REVEL_score=0.841;REVEL_rankscore=0.951;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.749;CADD_raw_rankscore=0.785;CADD_phred=27.0;DANN_score=0.997;DANN_rankscore=0.823;fathmm-MKL_coding_score=0.676;fathmm-MKL_coding_rankscore=0.332;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.108;Eigen-PC-raw=-0.068;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.089;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=2.32;GERP++_RS_rankscore=0.278;phyloP100way_vertebrate=0.530;phyloP100way_vertebrate_rankscore=0.226;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.113;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.922;phastCons20way_mammalian_rankscore=0.397;SiPhy_29way_logOdds=10.250;SiPhy_29way_logOdds_rankscore=0.424;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0018;AF_popmax=0.0030;AF_male=0.0018;AF_female=0.0019;AF_raw=0.0018;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0009;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0019146;Kaviar_AC=296;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.225351;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 38835509 rs200901459 T A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19704;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=upstream;Gene.refGene=SCN10A;GeneDetail.refGene=dist\x3d8;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200901459;CLNALLELEID=367226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0020;AF_popmax=0.0034;AF_male=0.0018;AF_female=0.0022;AF_raw=0.0020;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0020;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0054;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.753586;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46899725 rs202234617 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYL3;GeneDetail.refGene=NM_000258:c.*9C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202234617;CLNALLELEID=173937;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=6.593e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.563e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.939816;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46900051 rs3729704 G A 100 PASS AC=11;AF=0.147165;AN=214;NS=2504;DP=20682;EAS_AF=0.1538;AMR_AF=0.0778;AFR_AF=0.1051;EUR_AF=0.0795;SAS_AF=0.316;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729704;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0903;AF_popmax=0.1374;AF_male=0.0908;AF_female=0.0896;AF_raw=0.0904;AF_afr=0.1084;AF_sas=.;AF_amr=0.0755;AF_eas=0.1374;AF_nfe=0.0780;AF_fin=0.0783;AF_asj=0.1103;AF_oth=0.0967;non_topmed_AF_popmax=0.1362;non_neuro_AF_popmax=0.1374;non_cancer_AF_popmax=.;controls_AF_popmax=0.1543;Kaviar_AF=0.0189325;Kaviar_AC=2927;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0716912::-0.318367;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.867032;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46902129 rs2227294 T G 100 PASS AC=26;AF=0.462859;AN=214;NS=2504;DP=17734;EAS_AF=0.3869;AMR_AF=0.3012;AFR_AF=0.8865;EUR_AF=0.1372;SAS_AF=0.4182;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.462859;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2227294;CLNALLELEID=251170;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1248;ExAC_nontcga_ALL=0.2679;ExAC_nontcga_AFR=0.7879;ExAC_nontcga_AMR=0.3407;ExAC_nontcga_EAS=0.3832;ExAC_nontcga_FIN=0.1342;ExAC_nontcga_NFE=0.1266;ExAC_nontcga_OTH=0.1986;ExAC_nontcga_SAS=0.4046;AF=0.3261;AF_popmax=0.7825;AF_male=0.3342;AF_female=0.3159;AF_raw=0.3265;AF_afr=0.7825;AF_sas=.;AF_amr=0.3113;AF_eas=0.3695;AF_nfe=0.1193;AF_fin=0.1368;AF_asj=0.2138;AF_oth=0.1989;non_topmed_AF_popmax=0.7827;non_neuro_AF_popmax=0.7929;non_cancer_AF_popmax=.;controls_AF_popmax=0.7920;Kaviar_AF=0.247416;Kaviar_AC=38251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.525554;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 46902491 rs192329378 C A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=19293;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192329378;CLNALLELEID=52289;CLNDN=Familial_hypertrophic_cardiomyopathy_8|not_specified;CLNDISDB=MedGen:C1837471,OMIM:608751|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0018;AF=0.0012;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302261;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46902578 rs551103625 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19677;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs551103625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0003;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.766111;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 46904708 rs936175 C A 100 PASS AC=26;AF=0.39397;AN=214;NS=2504;DP=19600;EAS_AF=0.2609;AMR_AF=0.1931;AFR_AF=0.7837;EUR_AF=0.1322;SAS_AF=0.4162;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.39397;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs936175;CLNALLELEID=251171;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1230;ExAC_nontcga_ALL=0.2252;ExAC_nontcga_AFR=0.7002;ExAC_nontcga_AMR=0.1279;ExAC_nontcga_EAS=0.2250;ExAC_nontcga_FIN=0.1332;ExAC_nontcga_NFE=0.1250;ExAC_nontcga_OTH=0.1772;ExAC_nontcga_SAS=0.4005;AF=0.2910;AF_popmax=0.7013;AF_male=0.2996;AF_female=0.2801;AF_raw=0.2912;AF_afr=0.7013;AF_sas=.;AF_amr=0.1592;AF_eas=0.2169;AF_nfe=0.1182;AF_fin=0.1355;AF_asj=0.2138;AF_oth=0.1897;non_topmed_AF_popmax=0.7009;non_neuro_AF_popmax=0.7077;non_cancer_AF_popmax=.;controls_AF_popmax=0.7066;Kaviar_AF=0.209887;Kaviar_AC=32449;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.170956::-0.264397;ENSEMBLReg=Name\x3dENSR00000684896|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.934619;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +3 46904812 rs2233264 G A 100 PASS AC=3;AF=0.0371406;AN=214;NS=2504;DP=18404;EAS_AF=0.1012;AMR_AF=0.0245;AFR_AF=0.0371;EUR_AF=0.0129;SAS_AF=0.0051;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL3:NM_000258:exon1:c.C69T:p.P23P;1000g2015aug_all=0.0371406;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2233264;CLNALLELEID=52299;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0074;ExAC_nontcga_ALL=0.0189;ExAC_nontcga_AFR=0.0314;ExAC_nontcga_AMR=0.0265;ExAC_nontcga_EAS=0.0879;ExAC_nontcga_FIN=0.0296;ExAC_nontcga_NFE=0.0068;ExAC_nontcga_OTH=0.0216;ExAC_nontcga_SAS=0.0091;AF=0.0223;AF_popmax=0.0769;AF_male=0.0241;AF_female=0.0201;AF_raw=0.0223;AF_afr=0.0358;AF_sas=.;AF_amr=0.0248;AF_eas=0.0769;AF_nfe=0.0075;AF_fin=0.0322;AF_asj=0.0103;AF_oth=0.0165;non_topmed_AF_popmax=0.0775;non_neuro_AF_popmax=0.0769;non_cancer_AF_popmax=.;controls_AF_popmax=0.0742;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000684896|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.539383;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 52485889 rs201112655 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201112655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000152555|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1707415|N/A|HNF4A|PAZAR,OREG1732360|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.807697;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57743337 rs13400 C G 100 PASS AC=51;AF=0.192492;AN=214;NS=2504;DP=16626;EAS_AF=0.4702;AMR_AF=0.2161;AFR_AF=0.0053;EUR_AF=0.1988;SAS_AF=0.136;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SLMAP;GeneDetail.refGene=NM_001304420:c.-42C>G\x3bNM_007159:c.-42C>G\x3bNM_001304421:c.-42C>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.192492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1936;ExAC_nontcga_ALL=0.2077;ExAC_nontcga_AFR=0.0381;ExAC_nontcga_AMR=0.3421;ExAC_nontcga_EAS=0.4819;ExAC_nontcga_FIN=0.1639;ExAC_nontcga_NFE=0.1976;ExAC_nontcga_OTH=0.1994;ExAC_nontcga_SAS=0.1301;AF=0.1609;AF_popmax=0.5019;AF_male=0.1664;AF_female=0.1540;AF_raw=0.1611;AF_afr=0.0400;AF_sas=.;AF_amr=0.2795;AF_eas=0.5019;AF_nfe=0.1865;AF_fin=0.1649;AF_asj=0.1493;AF_oth=0.1774;non_topmed_AF_popmax=0.4993;non_neuro_AF_popmax=0.5019;non_cancer_AF_popmax=.;controls_AF_popmax=0.5098;Kaviar_AF=0.196828;Kaviar_AC=30430;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.193182::0.493796;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000153102|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1256099|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.513890;ALLELE_END;VINYL_score=2 GT 0|0 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57835630 rs541412592 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16144;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541412592;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.184e-05;AF_popmax=6.479e-05;AF_male=0;AF_female=7.181e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.479e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=7.34e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57843561 rs200859030 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17896;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200859030;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57846577 rs2306056 C A 100 PASS AC=55;AF=0.228634;AN=214;NS=2504;DP=14145;EAS_AF=0.4315;AMR_AF=0.2291;AFR_AF=0.1626;EUR_AF=0.2018;SAS_AF=0.136;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306056;CLNALLELEID=251243;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1615;ExAC_nontcga_ALL=0.2529;ExAC_nontcga_AFR=0.2188;ExAC_nontcga_AMR=0.3814;ExAC_nontcga_EAS=0.4496;ExAC_nontcga_FIN=0.1880;ExAC_nontcga_NFE=0.2348;ExAC_nontcga_OTH=0.2264;ExAC_nontcga_SAS=0.1603;AF=0.2175;AF_popmax=0.4732;AF_male=0.2228;AF_female=0.2107;AF_raw=0.1973;AF_afr=0.1911;AF_sas=.;AF_amr=0.3141;AF_eas=0.4732;AF_nfe=0.1997;AF_fin=0.2201;AF_asj=0.1758;AF_oth=0.2218;non_topmed_AF_popmax=0.4705;non_neuro_AF_popmax=0.4732;non_cancer_AF_popmax=.;controls_AF_popmax=0.4722;Kaviar_AF=0.0131305;Kaviar_AC=2030;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57846627 rs576536272 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16129;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576536272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0012;AF_male=0.0008;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0006531;Kaviar_AC=17;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57847871 rs541328649 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15873;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs541328649;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57857439 rs111294347 A G 100 PASS AC=8;AF=0.0147764;AN=214;NS=2504;DP=14078;EAS_AF=0.002;AMR_AF=0.0288;AFR_AF=0.0023;EUR_AF=0.0417;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111294347;CLNALLELEID=251244;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0506;ExAC_nontcga_ALL=0.0322;ExAC_nontcga_AFR=0.0101;ExAC_nontcga_AMR=0.0175;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0494;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0185;AF=0.0288;AF_popmax=0.0459;AF_male=0.0285;AF_female=0.0291;AF_raw=0.0288;AF_afr=0.0088;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0459;AF_fin=0.0193;AF_asj=0;AF_oth=0.0360;non_topmed_AF_popmax=0.0414;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0282;Kaviar_AF=0.0342298;Kaviar_AC=5292;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.848298;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57882601 rs17058639 C T 100 PASS AC=60;AF=0.299521;AN=214;NS=2504;DP=18552;EAS_AF=0.4752;AMR_AF=0.3429;AFR_AF=0.1218;EUR_AF=0.2654;SAS_AF=0.363;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304421:exon13:c.C1278T:p.D426D,SLMAP:NM_007159:exon14:c.C1341T:p.D447D,SLMAP:NM_001304420:exon15:c.C1392T:p.D464D;1000g2015aug_all=0.299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17058639;CLNALLELEID=500813;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.2420;ExAC_nontcga_ALL=0.3005;ExAC_nontcga_AFR=0.1523;ExAC_nontcga_AMR=0.3631;ExAC_nontcga_EAS=0.4887;ExAC_nontcga_FIN=0.2989;ExAC_nontcga_NFE=0.2697;ExAC_nontcga_OTH=0.2907;ExAC_nontcga_SAS=0.3537;AF=0.2437;AF_popmax=0.4651;AF_male=0.2419;AF_female=0.2460;AF_raw=0.2435;AF_afr=0.1593;AF_sas=.;AF_amr=0.3416;AF_eas=0.4651;AF_nfe=0.2522;AF_fin=0.2797;AF_asj=0.3715;AF_oth=0.2588;non_topmed_AF_popmax=0.4695;non_neuro_AF_popmax=0.4651;non_cancer_AF_popmax=.;controls_AF_popmax=0.4736;Kaviar_AF=0.279466;Kaviar_AC=43206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 0|0 1|0 1|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 +3 57893558 rs143327447 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18588;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143327447;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57898376 rs35219531 T A 100 PASS AC=7;AF=0.0071885;AN=214;NS=2504;DP=18435;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0308;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon4:c.T321A:p.L107L,SLMAP:NM_001311179:exon5:c.T396A:p.L132L,SLMAP:NM_001304422:exon6:c.T519A:p.L173L,SLMAP:NM_001311178:exon6:c.T519A:p.L173L,SLMAP:NM_001304421:exon16:c.T1803A:p.L601L,SLMAP:NM_007159:exon17:c.T1866A:p.L622L,SLMAP:NM_001304420:exon18:c.T1917A:p.L639L;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35219531;CLNALLELEID=239292;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0320;ExAC_nontcga_ALL=0.0172;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0288;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0053;AF=0.0158;AF_popmax=0.0249;AF_male=0.0159;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0057;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0249;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0233;non_neuro_AF_popmax=0.0250;non_cancer_AF_popmax=.;controls_AF_popmax=0.0179;Kaviar_AF=0.0167268;Kaviar_AC=2586;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.563219;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57898433 rs199881493 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17622;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199881493;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.022;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.379e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=9.554e-05;AF_popmax=0.0002;AF_male=0.0002;AF_female=0;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57902639 rs17745496 G A 100 PASS AC=9;AF=0.0133786;AN=214;NS=2504;DP=17662;EAS_AF=0;AMR_AF=0.0259;AFR_AF=0.0023;EUR_AF=0.0388;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon6:c.G498A:p.Q166Q,SLMAP:NM_001311179:exon7:c.G573A:p.Q191Q,SLMAP:NM_001304422:exon8:c.G696A:p.Q232Q,SLMAP:NM_001311178:exon8:c.G696A:p.Q232Q,SLMAP:NM_001304421:exon18:c.G1980A:p.Q660Q,SLMAP:NM_007159:exon19:c.G2043A:p.Q681Q,SLMAP:NM_001304420:exon20:c.G2094A:p.Q698Q;1000g2015aug_all=0.0133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17745496;CLNALLELEID=394180;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0322;ExAC_nontcga_ALL=0.0221;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0145;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0323;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0127;AF=0.0224;AF_popmax=0.0330;AF_male=0.0229;AF_female=0.0218;AF_raw=0.0224;AF_afr=0.0039;AF_sas=.;AF_amr=0.0272;AF_eas=0;AF_nfe=0.0330;AF_fin=0.0273;AF_asj=0.0586;AF_oth=0.0239;non_topmed_AF_popmax=0.0323;non_neuro_AF_popmax=0.0330;non_cancer_AF_popmax=.;controls_AF_popmax=0.0299;Kaviar_AF=0.0233244;Kaviar_AC=3606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.012318;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +3 57908594 rs3832206 CT C 100 PASS AC=51;AF=0.1875;AN=214;NS=2504;DP=19338;EAS_AF=0.4286;AMR_AF=0.219;AFR_AF=0.0204;EUR_AF=0.1978;SAS_AF=0.1319;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1875;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3832206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1907;ExAC_nontcga_ALL=0.2135;ExAC_nontcga_AFR=0.0511;ExAC_nontcga_AMR=0.3562;ExAC_nontcga_EAS=0.4551;ExAC_nontcga_FIN=0.1633;ExAC_nontcga_NFE=0.2006;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.1417;AF=0.1588;AF_popmax=0.4582;AF_male=0.164;AF_female=0.1523;AF_raw=0.1584;AF_afr=0.0480;AF_sas=.;AF_amr=0.2813;AF_eas=0.4582;AF_nfe=0.1819;AF_fin=0.1645;AF_asj=0.1538;AF_oth=0.1772;non_topmed_AF_popmax=0.4551;non_neuro_AF_popmax=0.4582;non_cancer_AF_popmax=.;controls_AF_popmax=0.4615;Kaviar_AF=0.0059184;Kaviar_AC=915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.026722;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 1|0 1|1 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +3 57912985 rs367838625 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367838625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.078911;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 57913141 rs200394048 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15902;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SLMAP;GeneDetail.refGene=NM_001304420:c.*26T>A\x3bNM_007159:c.*26T>A\x3bNM_001304421:c.*26T>A\x3bNM_001304423:c.*26T>A\x3bNM_001304422:c.*26T>A\x3bNM_001311178:c.*125T>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200394048;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.711e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.171516;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180702494 rs17850540 T G 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=15501;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DNAJC19:NM_001190233:exon6:c.A210C:p.G70G,DNAJC19:NM_145261:exon6:c.A285C:p.G95G;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17850540;CLNALLELEID=140824;CLNDN=3-methylglutaconic_aciduria_type_V|not_specified|not_provided;CLNDISDB=MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0060;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0189;ExAC_nontcga_NFE=0.0079;ExAC_nontcga_OTH=0.0156;ExAC_nontcga_SAS=0.0030;AF=0.0076;AF_popmax=0.0100;AF_male=0.0061;AF_female=0.0093;AF_raw=0.0075;AF_afr=0.0013;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0170;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0185;Kaviar_AF=0.0043272;Kaviar_AC=669;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.549875;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180703653 rs144205126 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18004;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144205126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.812597;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180703663 rs193301673 A C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=18081;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193301673;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0062;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0050;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0016;AF=0.0016;AF_popmax=0.0035;AF_male=0.0014;AF_female=0.0019;AF_raw=0.0017;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0024;AF_fin=0.0009;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0032341;Kaviar_AC=500;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180703743 rs199774384 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18657;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DNAJC19:NM_001190233:exon5:c.G176A:p.R59Q,DNAJC19:NM_145261:exon5:c.G251A:p.R84Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199774384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.218;SIFT_converted_rankscore=0.233;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.993;MutationTaster_converted_rankscore=0.419;MutationTaster_pred=D;MutationAssessor_score=0.71;MutationAssessor_score_rankscore=0.187;MutationAssessor_pred=N;FATHMM_score=1.4;FATHMM_converted_rankscore=0.336;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.559;PROVEAN_pred=D;VEST3_score=0.247;VEST3_rankscore=0.303;MetaSVM_score=-1.093;MetaSVM_rankscore=0.050;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_rankscore=0.204;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.201;M-CAP_pred=T;REVEL_score=0.074;REVEL_rankscore=0.221;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.150;CADD_raw_rankscore=0.557;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.865;fathmm-MKL_coding_score=0.737;fathmm-MKL_coding_rankscore=0.358;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.237;Eigen-PC-raw=-0.029;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.448;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.07;GERP++_RS_rankscore=0.466;phyloP100way_vertebrate=4.192;phyloP100way_vertebrate_rankscore=0.579;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.807;SiPhy_29way_logOdds_rankscore=0.398;Interpro_domain=DnaJ_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.685e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.332081;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180705871 rs142023670 C T 100 PASS 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nCER95=Name\x3d99.453258;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200678459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.453258;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 180706141 rs538271863 CT C 100 PASS AC=61;AF=0.289936;AN=214;NS=2504;DP=17133;EAS_AF=0.2788;AMR_AF=0.3098;AFR_AF=0.2867;EUR_AF=0.33;SAS_AF=0.2505;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DNAJC19;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.289936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538271863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0311;AF_popmax=0.0463;AF_male=0.0302;AF_female=0.0323;AF_raw=0.0360;AF_afr=0.0168;AF_sas=.;AF_amr=0.0463;AF_eas=0.0038;AF_nfe=0.0382;AF_fin=0.0742;AF_asj=0.0694;AF_oth=0.0505;non_topmed_AF_popmax=0.0514;non_neuro_AF_popmax=0.0374;non_cancer_AF_popmax=.;controls_AF_popmax=0.0882;Kaviar_AF=0.0010373;Kaviar_AC=27;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000162646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 0|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 1|0 +3 196771513 rs34492126 G A 100 PASS AC=7;AF=0.0251597;AN=214;NS=2504;DP=17679;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.044;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2348T:p.P783L,DLG1:NM_001204387:exon22:c.C2384T:p.P795L,DLG1:NM_001204386:exon25:c.C2660T:p.P887L,DLG1:NM_001098424:exon26:c.C2696T:p.P899L,DLG1:NM_001290983:exon26:c.C2696T:p.P899L,DLG1:NM_004087:exon26:c.C2762T:p.P921L;1000g2015aug_all=0.0251597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34492126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.931;Polyphen2_HVAR_rankscore=0.649;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.49;MutationAssessor_score_rankscore=0.728;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-9.07;PROVEAN_converted_rankscore=0.982;PROVEAN_pred=D;VEST3_score=0.399;VEST3_rankscore=0.487;MetaSVM_score=-0.729;MetaSVM_rankscore=0.591;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_rankscore=0.226;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.273;REVEL_rankscore=0.593;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.635;CADD_raw_rankscore=0.621;CADD_phred=24.5;DANN_score=0.999;DANN_rankscore=0.938;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.812;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.790;Eigen-PC-raw=0.752;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.48;GERP++_RS_rankscore=0.806;phyloP100way_vertebrate=3.862;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.340;SiPhy_29way_logOdds_rankscore=0.902;Interpro_domain=Guanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase\x3bP-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0471;ExAC_nontcga_ALL=0.0433;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0173;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0537;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0547;AF=0.0418;AF_popmax=0.0561;AF_male=0.0387;AF_female=0.0455;AF_raw=0.0417;AF_afr=0.0090;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0561;AF_fin=0.0800;AF_asj=0.0483;AF_oth=0.0479;non_topmed_AF_popmax=0.0583;non_neuro_AF_popmax=0.0575;non_cancer_AF_popmax=.;controls_AF_popmax=0.0679;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196771521 rs199781716 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17710;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2340T:p.I780I,DLG1:NM_001204387:exon22:c.C2376T:p.I792I,DLG1:NM_001204386:exon25:c.C2652T:p.I884I,DLG1:NM_001098424:exon26:c.C2688T:p.I896I,DLG1:NM_001290983:exon26:c.C2688T:p.I896I,DLG1:NM_004087:exon26:c.C2754T:p.I918I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199781716;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.214e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.016e-05;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196771554 rs35370245 T C 100 PASS AC=7;AF=0.0253594;AN=214;NS=2504;DP=17651;EAS_AF=0.001;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.044;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.A2307G:p.K769K,DLG1:NM_001204387:exon22:c.A2343G:p.K781K,DLG1:NM_001204386:exon25:c.A2619G:p.K873K,DLG1:NM_001098424:exon26:c.A2655G:p.K885K,DLG1:NM_001290983:exon26:c.A2655G:p.K885K,DLG1:NM_004087:exon26:c.A2721G:p.K907K;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35370245;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0470;ExAC_nontcga_ALL=0.0432;ExAC_nontcga_AFR=0.0077;ExAC_nontcga_AMR=0.0173;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0722;ExAC_nontcga_NFE=0.0538;ExAC_nontcga_OTH=0.0504;ExAC_nontcga_SAS=0.0546;AF=0.0418;AF_popmax=0.0561;AF_male=0.0388;AF_female=0.0455;AF_raw=0.0418;AF_afr=0.0089;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0561;AF_fin=0.0801;AF_asj=0.0483;AF_oth=0.0479;non_topmed_AF_popmax=0.0584;non_neuro_AF_popmax=0.0576;non_cancer_AF_popmax=.;controls_AF_popmax=0.0679;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196778421 rs112212968 A C 100 PASS AC=3;AF=0.0115815;AN=214;NS=2504;DP=16145;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0242;EUR_AF=0.005;SAS_AF=0.0204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112212968;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0177;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0045;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0260;AF=0.0063;AF_popmax=0.0165;AF_male=0.0064;AF_female=0.0063;AF_raw=0.0064;AF_afr=0.0165;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0022;AF_fin=0;AF_asj=0.0345;AF_oth=0.0074;non_topmed_AF_popmax=0.0166;non_neuro_AF_popmax=0.0186;non_cancer_AF_popmax=.;controls_AF_popmax=0.0175;Kaviar_AF=0.0074385;Kaviar_AC=1150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196778438 rs7629533 C T 100 PASS AC=57;AF=0.264577;AN=214;NS=2504;DP=16149;EAS_AF=0.0734;AMR_AF=0.2262;AFR_AF=0.3699;EUR_AF=0.2584;SAS_AF=0.3528;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7629533;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.28;ExAC_nontcga_ALL=0.2611;ExAC_nontcga_AFR=0.3648;ExAC_nontcga_AMR=0.1823;ExAC_nontcga_EAS=0.0743;ExAC_nontcga_FIN=0.1527;ExAC_nontcga_NFE=0.2668;ExAC_nontcga_OTH=0.2680;ExAC_nontcga_SAS=0.3716;AF=0.2643;AF_popmax=0.3654;AF_male=0.2704;AF_female=0.2566;AF_raw=0.2642;AF_afr=0.3654;AF_sas=.;AF_amr=0.2292;AF_eas=0.0635;AF_nfe=0.2587;AF_fin=0.1492;AF_asj=0.2931;AF_oth=0.2078;non_topmed_AF_popmax=0.3662;non_neuro_AF_popmax=0.3587;non_cancer_AF_popmax=.;controls_AF_popmax=0.3532;Kaviar_AF=0.258121;Kaviar_AC=39906;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 +3 196786804 rs560345963 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18167;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon19:c.C2124T:p.Y708Y,DLG1:NM_001204387:exon20:c.C2160T:p.Y720Y,DLG1:NM_001204386:exon23:c.C2436T:p.Y812Y,DLG1:NM_001098424:exon24:c.C2472T:p.Y824Y,DLG1:NM_001290983:exon24:c.C2472T:p.Y824Y,DLG1:NM_004087:exon24:c.C2538T:p.Y846Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560345963;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.426e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.639192;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196792163 rs78190191 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19287;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0139;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon18:c.G2042A:p.R681Q,DLG1:NM_001204387:exon19:c.G2078A:p.R693Q,DLG1:NM_001204386:exon22:c.G2354A:p.R785Q,DLG1:NM_001098424:exon23:c.G2390A:p.R797Q,DLG1:NM_001290983:exon23:c.G2390A:p.R797Q,DLG1:NM_004087:exon23:c.G2456A:p.R819Q;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78190191;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.1;SIFT_converted_rankscore=0.408;SIFT_pred=T;Polyphen2_HDIV_score=0.557;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_rankscore=0.529;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.450;MutationTaster_pred=D;MutationAssessor_score=1.285;MutationAssessor_score_rankscore=0.324;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_converted_rankscore=0.460;FATHMM_pred=T;PROVEAN_score=-3.12;PROVEAN_converted_rankscore=0.637;PROVEAN_pred=D;VEST3_score=0.188;VEST3_rankscore=0.278;MetaSVM_score=-1.041;MetaSVM_rankscore=0.170;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_rankscore=0.298;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.107;REVEL_rankscore=0.309;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.123;CADD_raw_rankscore=0.943;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_rankscore=0.501;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.370;Eigen-PC-raw=0.426;GenoCanyon_score=0.299;GenoCanyon_score_rankscore=0.192;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=2.039;phyloP100way_vertebrate_rankscore=0.406;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.454;SiPhy_29way_logOdds_rankscore=0.492;Interpro_domain=Guanylate_kinase,_conserved_site|Guanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase\x3bGuanylate_kinase-like_domain|Guanylate_kinase/L-type_calcium_channel_beta_subunit|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0245;ExAC_nontcga_ALL=0.0169;ExAC_nontcga_AFR=0.0040;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0268;ExAC_nontcga_NFE=0.0248;ExAC_nontcga_OTH=0.0221;ExAC_nontcga_SAS=0.0086;AF=0.0167;AF_popmax=0.0240;AF_male=0.0146;AF_female=0.0195;AF_raw=0.0167;AF_afr=0.0030;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0240;AF_fin=0.0263;AF_asj=0.0103;AF_oth=0.0276;non_topmed_AF_popmax=0.0255;non_neuro_AF_popmax=0.0241;non_cancer_AF_popmax=.;controls_AF_popmax=0.0256;Kaviar_AF=0.0165781;Kaviar_AC=2563;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262715|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196793475 rs41284053 A T 100 PASS AC=7;AF=0.0289537;AN=214;NS=2504;DP=15160;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0151;EUR_AF=0.0586;SAS_AF=0.044;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284053;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0448;AF_popmax=0.0584;AF_male=0.0423;AF_female=0.0479;AF_raw=0.0448;AF_afr=0.0150;AF_sas=.;AF_amr=0.0318;AF_eas=0;AF_nfe=0.0584;AF_fin=0.0798;AF_asj=0.0590;AF_oth=0.0497;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0599;non_cancer_AF_popmax=.;controls_AF_popmax=0.0691;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262715|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196795292 rs139679630 TAATC T 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=17424;EAS_AF=0.002;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139679630;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0035;AF_popmax=0.0059;AF_male=0.0037;AF_female=0.0032;AF_raw=0.0035;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0059;AF_fin=0.0015;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0066;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196795342 rs145968258 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17286;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145968258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196795442 rs200793489 T C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=17055;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200793489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.000912;Kaviar_AC=141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196795990 rs542752445 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=12576;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542752445;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.19e-05;AF_popmax=6.488e-05;AF_male=5.728e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196796231 rs549466520 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13502;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549466520;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196796248 rs141275079 TTTTC T 100 PASS AC=15;AF=0.0369409;AN=214;NS=2504;DP=14164;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.0023;EUR_AF=0.0497;SAS_AF=0.1135;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141275079;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0303;AF_popmax=0.0447;AF_male=0.0304;AF_female=0.0302;AF_raw=0.0306;AF_afr=0.0098;AF_sas=.;AF_amr=0.0283;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0200;AF_asj=0.1146;AF_oth=0.0471;non_topmed_AF_popmax=0.0442;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0412;Kaviar_AF=0.0051099;Kaviar_AC=133;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196802740 rs200527966 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17267;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon14:c.A1658G:p.E553G,DLG1:NM_001204388:exon14:c.A1658G:p.E553G,DLG1:NM_001098424:exon19:c.A2006G:p.E669G,DLG1:NM_001290983:exon19:c.A2006G:p.E669G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200527966;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.215;SIFT_converted_rankscore=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-1.59;FATHMM_converted_rankscore=0.821;FATHMM_pred=D;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.150;PROVEAN_pred=N;VEST3_score=0.625;VEST3_rankscore=0.665;MetaSVM_score=-0.722;MetaSVM_rankscore=0.594;MetaSVM_pred=T;MetaLR_score=0.297;MetaLR_rankscore=0.669;MetaLR_pred=T;M-CAP_score=0.036;M-CAP_rankscore=0.570;M-CAP_pred=D;REVEL_score=0.298;REVEL_rankscore=0.622;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.048;CADD_raw_rankscore=0.307;CADD_phred=16.52;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_rankscore=0.771;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.101;Eigen-PC-raw=0.162;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=6.682;phyloP100way_vertebrate_rankscore=0.742;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.330;SiPhy_29way_logOdds_rankscore=0.738;Interpro_domain=PDZ_domain\x3bSH3_domain\x3bSH3_domain|Variant_SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0137;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.488e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.843e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.734434;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196803647 rs12632559 T C 100 PASS AC=63;AF=0.252596;AN=214;NS=2504;DP=19006;EAS_AF=0.622;AMR_AF=0.2003;AFR_AF=0.0151;EUR_AF=0.2893;SAS_AF=0.1922;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12632559;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2326;AF_popmax=0.6316;AF_male=0.2297;AF_female=0.2363;AF_raw=0.2327;AF_afr=0.0515;AF_sas=.;AF_amr=0.1899;AF_eas=0.6316;AF_nfe=0.2817;AF_fin=0.2958;AF_asj=0.1469;AF_oth=0.2726;non_topmed_AF_popmax=0.6303;non_neuro_AF_popmax=0.6316;non_cancer_AF_popmax=.;controls_AF_popmax=0.6261;Kaviar_AF=0.0520368;Kaviar_AC=8045;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.057768;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 0|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 +3 196807928 rs35430440 A C 100 PASS AC=4;AF=0.00559105;AN=214;NS=2504;DP=16092;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35430440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_converted_rankscore=0.313;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.380;LRT_pred=N;MutationTaster_score=0.975;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=-0.57;MutationAssessor_score_rankscore=0.023;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_converted_rankscore=0.822;FATHMM_pred=D;PROVEAN_score=-1.17;PROVEAN_converted_rankscore=0.299;PROVEAN_pred=N;VEST3_score=0.025;VEST3_rankscore=0.010;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_rankscore=0.415;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.923;CADD_raw_rankscore=0.292;CADD_phred=15.73;DANN_score=0.978;DANN_rankscore=0.354;fathmm-MKL_coding_score=0.568;fathmm-MKL_coding_rankscore=0.299;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.698;Eigen-PC-raw=-0.497;GenoCanyon_score=0.129;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.47;GERP++_RS_rankscore=0.290;phyloP100way_vertebrate=0.146;phyloP100way_vertebrate_rankscore=0.159;phyloP20way_mammalian=0.157;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.976;phastCons100way_vertebrate_rankscore=0.346;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=4.871;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=PDZ_domain\x3bSH3_domain\x3bSH3_domain|Variant_SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0021;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0056;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0009;AF=0.0064;AF_popmax=0.0100;AF_male=0.0071;AF_female=0.0056;AF_raw=0.0064;AF_afr=0.0018;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0052;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0099;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0076713;Kaviar_AC=1186;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.870038;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196808026 rs201168091 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201168091;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196817735 rs77261739 A T 100 PASS AC=7;AF=0.029353;AN=214;NS=2504;DP=13914;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0166;EUR_AF=0.0577;SAS_AF=0.044;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.029353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77261739;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0502;ExAC_nontcga_ALL=0.0465;ExAC_nontcga_AFR=0.0243;ExAC_nontcga_AMR=0.0217;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0716;ExAC_nontcga_NFE=0.0562;ExAC_nontcga_OTH=0.0536;ExAC_nontcga_SAS=0.0553;AF=0.0468;AF_popmax=0.0583;AF_male=0.0440;AF_female=0.0503;AF_raw=0.0469;AF_afr=0.0221;AF_sas=.;AF_amr=0.0330;AF_eas=0;AF_nfe=0.0583;AF_fin=0.0800;AF_asj=0.0586;AF_oth=0.0497;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0599;non_cancer_AF_popmax=.;controls_AF_popmax=0.0690;Kaviar_AF=0.0447019;Kaviar_AC=6911;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1262717|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196831946 rs78225142 C T 100 PASS AC=3;AF=0.00738818;AN=214;NS=2504;DP=17383;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78225142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0133;AF_popmax=0.0185;AF_male=0.0125;AF_female=0.0142;AF_raw=0.0132;AF_afr=0.0028;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0185;AF_fin=0.0248;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0185;non_neuro_AF_popmax=0.0187;non_cancer_AF_popmax=.;controls_AF_popmax=0.0190;Kaviar_AF=0.0024256;Kaviar_AC=375;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196846378 rs143253568 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18466;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon8:c.C940T:p.H314Y,DLG1:NM_001204388:exon8:c.C940T:p.H314Y,DLG1:NM_001204386:exon12:c.C1189T:p.H397Y,DLG1:NM_001098424:exon13:c.C1288T:p.H430Y,DLG1:NM_001290983:exon13:c.C1288T:p.H430Y,DLG1:NM_004087:exon13:c.C1288T:p.H430Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143253568;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.124;SIFT_converted_rankscore=0.285;SIFT_pred=T;Polyphen2_HDIV_score=0.13;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_rankscore=0.259;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.475;MutationAssessor_score_rankscore=0.721;MutationAssessor_pred=M;FATHMM_score=2.51;FATHMM_converted_rankscore=0.152;FATHMM_pred=T;PROVEAN_score=-3.35;PROVEAN_converted_rankscore=0.730;PROVEAN_pred=D;VEST3_score=0.658;VEST3_rankscore=0.696;MetaSVM_score=-1.030;MetaSVM_rankscore=0.206;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_rankscore=0.221;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.374;M-CAP_pred=T;REVEL_score=0.195;REVEL_rankscore=0.481;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.660;CADD_raw_rankscore=0.381;CADD_phred=20.6;DANN_score=0.989;DANN_rankscore=0.478;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.934;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.299;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.737;integrated_fitCons_score_rankscore=0.974;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=7.260;phyloP100way_vertebrate_rankscore=0.776;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=17.983;SiPhy_29way_logOdds_rankscore=0.890;Interpro_domain=PDZ_domain\x3bPDZ-associated_domain_of_NMDA_receptors;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.892e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.701e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.539963;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196846437 rs6776073 C T 100 PASS AC=34;AF=0.0794728;AN=214;NS=2504;DP=19374;EAS_AF=0.0169;AMR_AF=0.0663;AFR_AF=0.084;EUR_AF=0.1571;SAS_AF=0.0675;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0794728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6776073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1755;ExAC_nontcga_ALL=0.1455;ExAC_nontcga_AFR=0.1069;ExAC_nontcga_AMR=0.0927;ExAC_nontcga_EAS=0.0217;ExAC_nontcga_FIN=0.1684;ExAC_nontcga_NFE=0.2002;ExAC_nontcga_OTH=0.1397;ExAC_nontcga_SAS=0.0781;AF=0.1424;AF_popmax=0.1737;AF_male=0.1428;AF_female=0.1418;AF_raw=0.1424;AF_afr=0.1016;AF_sas=.;AF_amr=0.1002;AF_eas=0.0205;AF_nfe=0.1737;AF_fin=0.1577;AF_asj=0.2345;AF_oth=0.1581;non_topmed_AF_popmax=0.1757;non_neuro_AF_popmax=0.1724;non_cancer_AF_popmax=.;controls_AF_popmax=0.1698;Kaviar_AF=0.129972;Kaviar_AC=20094;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196865242 rs1134986 C T 100 PASS AC=38;AF=0.127995;AN=214;NS=2504;DP=11825;EAS_AF=0.0714;AMR_AF=0.1225;AFR_AF=0.0106;EUR_AF=0.1441;SAS_AF=0.3323;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon5:c.G485A:p.R162Q,DLG1:NM_001204388:exon5:c.G485A:p.R162Q,DLG1:NM_001204386:exon9:c.G734A:p.R245Q,DLG1:NM_001098424:exon10:c.G833A:p.R278Q,DLG1:NM_001290983:exon10:c.G833A:p.R278Q,DLG1:NM_004087:exon10:c.G833A:p.R278Q;1000g2015aug_all=0.127995;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1134986;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.195;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.579;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_rankscore=0.679;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=-0.075;MutationAssessor_score_rankscore=0.048;MutationAssessor_pred=N;FATHMM_score=1.74;FATHMM_converted_rankscore=0.263;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.585;PROVEAN_pred=N;VEST3_score=0.499;VEST3_rankscore=0.589;MetaSVM_score=-1.128;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.417;CADD_raw_rankscore=0.591;CADD_phred=24.2;DANN_score=0.999;DANN_rankscore=0.936;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.843;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.482;Eigen-PC-raw=0.565;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=5.822;phyloP100way_vertebrate_rankscore=0.687;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.317;SiPhy_29way_logOdds_rankscore=0.901;Interpro_domain=Disks_large_homologue_1,_N-terminal_PEST_domain\x3bPDZ_domain;GTEx_V6p_gene=ENSG00000075711.16|ENSG00000075711.16|ENSG00000075711.16;GTEx_V6p_tissue=Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1473;ExAC_nontcga_ALL=0.1578;ExAC_nontcga_AFR=0.0279;ExAC_nontcga_AMR=0.1287;ExAC_nontcga_EAS=0.0721;ExAC_nontcga_FIN=0.1064;ExAC_nontcga_NFE=0.1488;ExAC_nontcga_OTH=0.1729;ExAC_nontcga_SAS=0.3400;AF=0.0996;AF_popmax=0.1393;AF_male=0.1021;AF_female=0.0966;AF_raw=0.0995;AF_afr=0.0270;AF_sas=.;AF_amr=0.1393;AF_eas=0.0623;AF_nfe=0.1376;AF_fin=0.1046;AF_asj=0.2014;AF_oth=0.1259;non_topmed_AF_popmax=0.1397;non_neuro_AF_popmax=0.1372;non_cancer_AF_popmax=.;controls_AF_popmax=0.1281;Kaviar_AF=0.149519;Kaviar_AC=23116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 +3 196865301 rs115934144 A G 100 PASS AC=7;AF=0.0255591;AN=214;NS=2504;DP=8393;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.003;EUR_AF=0.0577;SAS_AF=0.046;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0255591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115934144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1156;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0986;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1794;ExAC_nontcga_OTH=0.0776;ExAC_nontcga_SAS=0.0986;AF=0.0413;AF_popmax=0.0557;AF_male=0.0382;AF_female=0.0453;AF_raw=0.0413;AF_afr=0.0087;AF_sas=.;AF_amr=0.0301;AF_eas=0;AF_nfe=0.0557;AF_fin=0.0890;AF_asj=0.0496;AF_oth=0.047;non_topmed_AF_popmax=0.0585;non_neuro_AF_popmax=0.0571;non_cancer_AF_popmax=.;controls_AF_popmax=0.0698;Kaviar_AF=0.028803;Kaviar_AC=4453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +3 196869518 rs9866058 T C 100 PASS AC=57;AF=0.257188;AN=214;NS=2504;DP=15858;EAS_AF=0.0784;AMR_AF=0.2248;AFR_AF=0.3238;EUR_AF=0.2594;SAS_AF=0.3722;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257188;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9866058;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2719;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2554;AF_popmax=0.3251;AF_male=0.2618;AF_female=0.2475;AF_raw=0.2556;AF_afr=0.3251;AF_sas=.;AF_amr=0.2334;AF_eas=0.0699;AF_nfe=0.2615;AF_fin=0.1516;AF_asj=0.3147;AF_oth=0.2114;non_topmed_AF_popmax=0.3260;non_neuro_AF_popmax=0.3261;non_cancer_AF_popmax=.;controls_AF_popmax=0.3177;Kaviar_AF=0.051707;Kaviar_AC=7994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 +3 196869688 rs7628652 A G 100 PASS AC=214;AF=0.993211;AN=214;NS=2504;DP=17292;EAS_AF=0.999;AMR_AF=1;AFR_AF=0.975;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.993211;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7628652;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9987;ExAC_nontcga_AFR=0.9845;ExAC_nontcga_AMR=0.9995;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9956;AF_popmax=1;AF_male=0.9956;AF_female=0.9955;AF_raw=0.9955;AF_afr=0.9845;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=0.9963;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.944309;Kaviar_AC=145992;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +3 196876600 rs73210523 G A 100 PASS AC=34;AF=0.0766773;AN=214;NS=2504;DP=17759;EAS_AF=0.0169;AMR_AF=0.0663;AFR_AF=0.0726;EUR_AF=0.1581;SAS_AF=0.0675;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0766773;GWAS=rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396;ORegAnno_REGULATORY_P=rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396;avsnp150=rs73210523;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1783;ExAC_nontcga_ALL=0.1304;ExAC_nontcga_AFR=0.0852;ExAC_nontcga_AMR=0.0756;ExAC_nontcga_EAS=0.0196;ExAC_nontcga_FIN=0.1602;ExAC_nontcga_NFE=0.1795;ExAC_nontcga_OTH=0.1412;ExAC_nontcga_SAS=0.0711;AF=0.1387;AF_popmax=0.1735;AF_male=0.1394;AF_female=0.1378;AF_raw=0.1388;AF_afr=0.0889;AF_sas=.;AF_amr=0.1005;AF_eas=0.0205;AF_nfe=0.1735;AF_fin=0.1575;AF_asj=0.2345;AF_oth=0.1584;non_topmed_AF_popmax=0.1753;non_neuro_AF_popmax=0.1721;non_cancer_AF_popmax=.;controls_AF_popmax=0.1691;Kaviar_AF=0.135134;Kaviar_AC=20892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196876717 rs188496910 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18139;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs188496910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0013;AF=0.0015;AF_popmax=0.0027;AF_male=0.0014;AF_female=0.0017;AF_raw=0.0015;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0027;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0027;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0019081;Kaviar_AC=295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 196876775 rs149672384 T TTA 100 PASS AC=34;AF=0.105032;AN=214;NS=2504;DP=18358;EAS_AF=0.0169;AMR_AF=0.0764;AFR_AF=0.1747;EUR_AF=0.1581;SAS_AF=0.0675;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.105032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149672384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1624;AF_popmax=0.1736;AF_male=0.1636;AF_female=0.1609;AF_raw=0.1628;AF_afr=0.1736;AF_sas=.;AF_amr=0.1061;AF_eas=0.0205;AF_nfe=0.1734;AF_fin=0.1576;AF_asj=0.2292;AF_oth=0.1624;non_topmed_AF_popmax=0.1752;non_neuro_AF_popmax=0.1727;non_cancer_AF_popmax=.;controls_AF_popmax=0.1745;Kaviar_AF=0.0237437;Kaviar_AC=618;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 0|0 +3 196921360 rs1802668 T C 100 PASS AC=13;AF=0.0145767;AN=214;NS=2504;DP=14501;EAS_AF=0.001;AMR_AF=0.0202;AFR_AF=0.0008;EUR_AF=0.0487;SAS_AF=0.0082;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon5:c.A419G:p.K140R,DLG1:NM_001204386:exon5:c.A419G:p.K140R,DLG1:NM_001290983:exon5:c.A419G:p.K140R,DLG1:NM_004087:exon5:c.A419G:p.K140R;1000g2015aug_all=0.0145767;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1802668;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.153;SIFT_converted_rankscore=0.531;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.156;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.229;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=1.135;MutationAssessor_score_rankscore=0.291;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_converted_rankscore=0.535;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.338;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.311;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_rankscore=0.137;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.040;CADD_raw_rankscore=0.306;CADD_phred=16.47;DANN_score=0.996;DANN_rankscore=0.725;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.803;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.010;Eigen-PC-raw=0.207;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=7.674;phyloP100way_vertebrate_rankscore=0.830;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.867;SiPhy_29way_logOdds_rankscore=0.699;Interpro_domain=Disks_large_homologue_1,_N-terminal_PEST_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0443;ExAC_nontcga_ALL=0.0311;ExAC_nontcga_AFR=0.0078;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0475;ExAC_nontcga_NFE=0.0464;ExAC_nontcga_OTH=0.0436;ExAC_nontcga_SAS=0.0081;AF=0.0343;AF_popmax=0.0504;AF_male=0.0346;AF_female=0.0338;AF_raw=0.0343;AF_afr=0.0071;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0504;AF_fin=0.0501;AF_asj=0.0103;AF_oth=0.0358;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0493;non_cancer_AF_popmax=.;controls_AF_popmax=0.0509;Kaviar_AF=0.0323476;Kaviar_AC=5001;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 +3 196921477 rs191305003 C T 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=14958;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191305003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0042;AF=0.0001;AF_popmax=0.0003;AF_male=5.727e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +3 197009609 rs199887410 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12882;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon4:c.C259T:p.L87F,DLG1:NM_001204386:exon4:c.C259T:p.L87F,DLG1:NM_001290983:exon4:c.C259T:p.L87F,DLG1:NM_004087:exon4:c.C259T:p.L87F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199887410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.159;SIFT_converted_rankscore=0.262;SIFT_pred=T;Polyphen2_HDIV_score=0.883;Polyphen2_HDIV_rankscore=0.466;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.397;Polyphen2_HVAR_rankscore=0.426;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.484;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_score_rankscore=0.181;MutationAssessor_pred=N;FATHMM_score=2.55;FATHMM_converted_rankscore=0.481;FATHMM_pred=T;PROVEAN_score=-0.41;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.134;VEST3_rankscore=0.575;MetaSVM_score=-1.064;MetaSVM_rankscore=0.107;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.357;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.457;M-CAP_pred=T;REVEL_score=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.090;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.996;DANN_rankscore=0.751;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.806;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.112;Eigen-PC-raw=0.293;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.745;integrated_fitCons_score_rankscore=0.986;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=6.606;phyloP100way_vertebrate_rankscore=0.738;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.589;SiPhy_29way_logOdds_rankscore=0.911;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=7.541e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004588|hsa-miR-27b-5p|Experimental,MIMAT0000419|hsa-miR-27b-3p|Experimental,MIMAT0000232|hsa-miR-199a-3p|Experimental,MIMAT0000424|hsa-miR-128-3p|Experimental,MIMAT0004563|hsa-miR-199b-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.999583;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 113825680 rs559634150 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559634150;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.543641;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 113971067 rs187109060 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21439;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187109060;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0024;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0013;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000172116|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.677334;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114117472 rs2285710 C T 100 PASS AC=31;AF=0.179113;AN=214;NS=2504;DP=15884;EAS_AF=0.2282;AMR_AF=0.1744;AFR_AF=0.202;EUR_AF=0.1372;SAS_AF=0.1442;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2285710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1697;AF_popmax=0.2342;AF_male=0.1688;AF_female=0.1709;AF_raw=0.1705;AF_afr=0.1900;AF_sas=.;AF_amr=0.1415;AF_eas=0.2342;AF_nfe=0.1482;AF_fin=0.1910;AF_asj=0.2207;AF_oth=0.1608;non_topmed_AF_popmax=0.2341;non_neuro_AF_popmax=0.2342;non_cancer_AF_popmax=.;controls_AF_popmax=0.2374;Kaviar_AF=0.0300449;Kaviar_AC=4645;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.032597;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114117474 rs3214164 A AT 100 PASS AC=31;AF=0.179113;AN=214;NS=2504;DP=15739;EAS_AF=0.2282;AMR_AF=0.1744;AFR_AF=0.202;EUR_AF=0.1372;SAS_AF=0.1442;AA=TTTC|TTTT|TTTTT|complex_insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3214164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1442;ExAC_nontcga_ALL=0.1624;ExAC_nontcga_AFR=0.1907;ExAC_nontcga_AMR=0.1570;ExAC_nontcga_EAS=0.2486;ExAC_nontcga_FIN=0.1914;ExAC_nontcga_NFE=0.1522;ExAC_nontcga_OTH=0.1642;ExAC_nontcga_SAS=0.1308;AF=0.1699;AF_popmax=0.2349;AF_male=0.1690;AF_female=0.1709;AF_raw=0.1706;AF_afr=0.1901;AF_sas=.;AF_amr=0.1415;AF_eas=0.2349;AF_nfe=0.1484;AF_fin=0.1908;AF_asj=0.2207;AF_oth=0.1605;non_topmed_AF_popmax=0.2348;non_neuro_AF_popmax=0.2349;non_cancer_AF_popmax=.;controls_AF_popmax=0.2368;Kaviar_AF=0.0047735;Kaviar_AC=738;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.032597;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114120284 rs45502093 C T 100 PASS AC=3;AF=0.0253594;AN=214;NS=2504;DP=15946;EAS_AF=0.0585;AMR_AF=0.0375;AFR_AF=0.0038;EUR_AF=0.0288;SAS_AF=0.0082;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0253594;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45502093;CLNALLELEID=44353;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0293;ExAC_nontcga_ALL=0.0295;ExAC_nontcga_AFR=0.0050;ExAC_nontcga_AMR=0.0354;ExAC_nontcga_EAS=0.0527;ExAC_nontcga_FIN=0.0448;ExAC_nontcga_NFE=0.0333;ExAC_nontcga_OTH=0.0319;ExAC_nontcga_SAS=0.0090;AF=0.0313;AF_popmax=0.0596;AF_male=0.0305;AF_female=0.0322;AF_raw=0.0313;AF_afr=0.0064;AF_sas=.;AF_amr=0.0259;AF_eas=0.0596;AF_nfe=0.0401;AF_fin=0.0404;AF_asj=0;AF_oth=0.0481;non_topmed_AF_popmax=0.0591;non_neuro_AF_popmax=0.0596;non_cancer_AF_popmax=.;controls_AF_popmax=0.0568;Kaviar_AF=0.029508;Kaviar_AC=4562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.945297;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114158111 rs184546893 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19132;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184546893;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.121e-05;AF=0.0003;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114158395 rs570754329 TA T 100 PASS AC=3;AF=0.0107827;AN=214;NS=2504;DP=18982;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.003;EUR_AF=0.0308;SAS_AF=0.0031;AA=AAA|AAA|AA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201519224;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0294;AF_popmax=0.0376;AF_male=0.0265;AF_female=0.0330;AF_raw=0.0294;AF_afr=0.0077;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0376;AF_fin=0.0604;AF_asj=0.0103;AF_oth=0.0441;non_topmed_AF_popmax=0.0418;non_neuro_AF_popmax=0.0364;non_cancer_AF_popmax=.;controls_AF_popmax=0.0479;Kaviar_AF=0.0038036;Kaviar_AC=99;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.301541;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114161619 rs45616931 T C 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=16651;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45616931;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0116;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0055;AF=0.0071;AF_popmax=0.0121;AF_male=0.0066;AF_female=0.0077;AF_raw=0.0071;AF_afr=0.0022;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.007626;Kaviar_AC=1179;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.413888;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114171076 rs3025734 A G 100 PASS AC=5;AF=0.0549121;AN=214;NS=2504;DP=16113;EAS_AF=0.0724;AMR_AF=0.0447;AFR_AF=0.0855;EUR_AF=0.0388;SAS_AF=0.0194;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0549121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3025734;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0566;AF_popmax=0.0756;AF_male=0.0546;AF_female=0.0590;AF_raw=0.0566;AF_afr=0.0756;AF_sas=.;AF_amr=0.0413;AF_eas=0.0667;AF_nfe=0.0492;AF_fin=0.0455;AF_asj=0;AF_oth=0.0570;non_topmed_AF_popmax=0.0761;non_neuro_AF_popmax=0.0721;non_cancer_AF_popmax=.;controls_AF_popmax=0.0738;Kaviar_AF=0.0083763;Kaviar_AC=1295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114176848 rs34725737 GA G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=22981;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0.001;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34725737;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1409;ExAC_nontcga_ALL=0.1998;ExAC_nontcga_AFR=0.2071;ExAC_nontcga_AMR=0.2583;ExAC_nontcga_EAS=0.1820;ExAC_nontcga_FIN=0.0956;ExAC_nontcga_NFE=0.2083;ExAC_nontcga_OTH=0.175;ExAC_nontcga_SAS=0.1840;AF=0.0420;AF_popmax=0.1026;AF_male=0.0424;AF_female=0.0415;AF_raw=0.0365;AF_afr=0.0451;AF_sas=.;AF_amr=0.1026;AF_eas=0.0206;AF_nfe=0.0393;AF_fin=0.0403;AF_asj=0.0583;AF_oth=0.0460;non_topmed_AF_popmax=0.1031;non_neuro_AF_popmax=0.0826;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.0008797;Kaviar_AC=136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879617;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114176850 rs555031420 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=19310;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.003;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555031420;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.075e-05;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0006;AF_male=0.0003;AF_female=7.944e-05;AF_raw=0.0002;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.879617;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114179348 rs45455305 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21219;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45455305;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.633578;ALLELE_END;VINYL_score=3 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114186005 rs29413 C T 100 PASS AC=3;AF=0.0291534;AN=214;NS=2504;DP=19009;EAS_AF=0.0724;AMR_AF=0.0331;AFR_AF=0.0038;EUR_AF=0.0328;SAS_AF=0.0123;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0291534;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29413;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0318;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0046;ExAC_nontcga_AMR=0.0211;ExAC_nontcga_EAS=0.0934;ExAC_nontcga_FIN=0.0789;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0113;AF=0.0325;AF_popmax=0.0667;AF_male=0.0316;AF_female=0.0337;AF_raw=0.0326;AF_afr=0.0064;AF_sas=.;AF_amr=0.0295;AF_eas=0.0667;AF_nfe=0.0412;AF_fin=0.0431;AF_asj=0;AF_oth=0.0470;non_topmed_AF_popmax=0.0664;non_neuro_AF_popmax=0.0667;non_cancer_AF_popmax=.;controls_AF_popmax=0.0633;Kaviar_AF=0.0125483;Kaviar_AC=1940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.147601;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +4 114186067 rs142159132 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=16482;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon14:c.A1401G:p.A467A,ANK2:NM_020977:exon14:c.A1401G:p.A467A,ANK2:NM_001127493:exon15:c.A1338G:p.A446A;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142159132;CLNALLELEID=239302;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0095;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0017;AF_popmax=0.0035;AF_male=0.0015;AF_female=0.0019;AF_raw=0.0017;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0028;AF_fin=0;AF_asj=0.0103;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0017464;Kaviar_AC=270;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.833615;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114209691 rs29357 C T 100 PASS AC=28;AF=0.0790735;AN=214;NS=2504;DP=17830;EAS_AF=0.0625;AMR_AF=0.1268;AFR_AF=0.0061;EUR_AF=0.1113;SAS_AF=0.1278;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0790735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1069;ExAC_nontcga_ALL=0.1068;ExAC_nontcga_AFR=0.0198;ExAC_nontcga_AMR=0.1064;ExAC_nontcga_EAS=0.0652;ExAC_nontcga_FIN=0.1821;ExAC_nontcga_NFE=0.1182;ExAC_nontcga_OTH=0.1413;ExAC_nontcga_SAS=0.1059;AF=0.0881;AF_popmax=0.1067;AF_male=0.0858;AF_female=0.0910;AF_raw=0.0882;AF_afr=0.0201;AF_sas=.;AF_amr=0.1019;AF_eas=0.0552;AF_nfe=0.1067;AF_fin=0.1710;AF_asj=0.1897;AF_oth=0.1133;non_topmed_AF_popmax=0.1043;non_neuro_AF_popmax=0.1064;non_cancer_AF_popmax=.;controls_AF_popmax=0.1057;Kaviar_AF=0.101059;Kaviar_AC=15624;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.756851;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114209732 rs29356 T C 100 PASS AC=32;AF=0.177716;AN=214;NS=2504;DP=17885;EAS_AF=0.1687;AMR_AF=0.1571;AFR_AF=0.2436;EUR_AF=0.1203;SAS_AF=0.1718;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.177716;GWAS=rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255;ORegAnno_REGULATORY_P=rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255;avsnp150=rs29356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1575;AF_popmax=0.2258;AF_male=0.1575;AF_female=0.1574;AF_raw=0.1580;AF_afr=0.2258;AF_sas=.;AF_amr=0.1232;AF_eas=0.1857;AF_nfe=0.1139;AF_fin=0.1761;AF_asj=0.2034;AF_oth=0.1425;non_topmed_AF_popmax=0.2260;non_neuro_AF_popmax=0.2218;non_cancer_AF_popmax=.;controls_AF_popmax=0.2185;Kaviar_AF=0.137659;Kaviar_AC=3583;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.949094;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 +4 114213551 rs55706912 C T 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=18814;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55706912;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0094;ExAC_nontcga_ALL=0.0187;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0086;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0110;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0237;ExAC_nontcga_SAS=0.0351;AF=0.0073;AF_popmax=0.0115;AF_male=0.0073;AF_female=0.0073;AF_raw=0.0074;AF_afr=0.0016;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0066;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0105497;Kaviar_AC=1631;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.581974;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213561 rs146312675 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19046;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146312675;CLNALLELEID=296808;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0003;dbscSNV_RF_SCORE=0.056;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0027;ExAC_nontcga_SAS=0;AF=0.0047;AF_popmax=0.0082;AF_male=0.0046;AF_female=0.0048;AF_raw=0.0047;AF_afr=0.0010;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0080;non_neuro_AF_popmax=0.0079;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0046312;Kaviar_AC=716;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.753507;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213631 rs29341 C T 100 PASS AC=5;AF=0.0215655;AN=214;NS=2504;DP=18067;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0325;EUR_AF=0.0368;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon21:c.C2337T:p.V779V,ANK2:NM_020977:exon21:c.C2337T:p.V779V,ANK2:NM_001127493:exon22:c.C2274T:p.V758V;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs29341;CLNALLELEID=258338;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0366;ExAC_nontcga_ALL=0.0356;ExAC_nontcga_AFR=0.0368;ExAC_nontcga_AMR=0.0207;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0719;ExAC_nontcga_NFE=0.0442;ExAC_nontcga_OTH=0.0483;ExAC_nontcga_SAS=0.0215;AF=0.0401;AF_popmax=0.0456;AF_male=0.0378;AF_female=0.0430;AF_raw=0.0402;AF_afr=0.0296;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0456;AF_fin=0.0633;AF_asj=0.0172;AF_oth=0.0460;non_topmed_AF_popmax=0.0501;non_neuro_AF_popmax=0.0450;non_cancer_AF_popmax=.;controls_AF_popmax=0.0582;Kaviar_AF=0.0284343;Kaviar_AC=4396;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911971;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114213705 rs72556366 C T 100 PASS AC=9;AF=0.00499201;AN=214;NS=2504;DP=19338;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72556366;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0122;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0154;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0056;AF=0.0067;AF_popmax=0.0102;AF_male=0.0063;AF_female=0.0071;AF_raw=0.0067;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0049;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790870|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.340453;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +4 114214524 rs60004829 G T 100 PASS AC=2;AF=0.00479233;AN=214;NS=2504;DP=23071;EAS_AF=0;AMR_AF=0;AFR_AF=0.0166;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60004829;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0031;AF_popmax=0.0105;AF_male=0.0033;AF_female=0.0029;AF_raw=0.0031;AF_afr=0.0105;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0105;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0113;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795619|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.835521;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114214588 rs139893914 C T 100 PASS AC=1;AF=0.00419329;AN=214;NS=2504;DP=19361;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00419329;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139893914;CLNALLELEID=140089;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0003;AF=0.0054;AF_popmax=0.0094;AF_male=0.0052;AF_female=0.0057;AF_raw=0.0054;AF_afr=0.0026;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0012;AF_asj=0.0103;AF_oth=0.0083;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0018176;Kaviar_AC=281;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733744|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1795619|N/A|RBL2|PAZAR,OREG1777184|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.716817;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114254240 rs56173868 G T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=21549;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon29:c.G3255T:p.A1085A,ANK2:NM_020977:exon29:c.G3255T:p.A1085A,ANK2:NM_001127493:exon31:c.G3228T:p.A1076A;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173868;CLNALLELEID=221429;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0083;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0016;AF_popmax=0.0003;AF_male=0.0012;AF_female=0.0020;AF_raw=0.0016;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0115;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.846688;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114254322 rs150841275 A G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=23471;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon29:c.A3337G:p.T1113A,ANK2:NM_020977:exon29:c.A3337G:p.T1113A,ANK2:NM_001127493:exon31:c.A3310G:p.T1104A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150841275;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.226;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.886;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.87;MutationAssessor_score_rankscore=0.498;MutationAssessor_pred=L;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.760;FATHMM_pred=T;PROVEAN_score=-2.66;PROVEAN_converted_rankscore=0.632;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=0.053;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.524;MetaLR_rankscore=0.823;MetaLR_pred=D;M-CAP_score=0.069;M-CAP_rankscore=0.708;M-CAP_pred=D;REVEL_score=0.350;REVEL_rankscore=0.675;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.396;CADD_raw_rankscore=0.349;CADD_phred=18.79;DANN_score=0.914;DANN_rankscore=0.200;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.853;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.313;phyloP100way_vertebrate_rankscore=0.781;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.189;phastCons20way_mammalian_rankscore=0.215;SiPhy_29way_logOdds=15.230;SiPhy_29way_logOdds_rankscore=0.730;Interpro_domain=Ankyrin_repeat-containing_domain\x3bZU5_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.706599;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114257201 rs3736575 C T 100 PASS AC=19;AF=0.260383;AN=214;NS=2504;DP=17320;EAS_AF=0.1161;AMR_AF=0.2017;AFR_AF=0.6241;EUR_AF=0.1014;SAS_AF=0.1227;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon30:c.C3579T:p.R1193R,ANK2:NM_020977:exon30:c.C3579T:p.R1193R,ANK2:NM_001127493:exon32:c.C3552T:p.R1184R;1000g2015aug_all=0.260383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3736575;CLNALLELEID=140093;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1038;ExAC_nontcga_ALL=0.1465;ExAC_nontcga_AFR=0.5567;ExAC_nontcga_AMR=0.1419;ExAC_nontcga_EAS=0.1217;ExAC_nontcga_FIN=0.0626;ExAC_nontcga_NFE=0.0981;ExAC_nontcga_OTH=0.1228;ExAC_nontcga_SAS=0.1300;AF=0.2248;AF_popmax=0.5470;AF_male=0.2317;AF_female=0.2161;AF_raw=0.2253;AF_afr=0.5470;AF_sas=.;AF_amr=0.1327;AF_eas=0.1351;AF_nfe=0.1040;AF_fin=0.0645;AF_asj=0.0621;AF_oth=0.1211;non_topmed_AF_popmax=0.5478;non_neuro_AF_popmax=0.5461;non_cancer_AF_popmax=.;controls_AF_popmax=0.5517;Kaviar_AF=0.142657;Kaviar_AC=22055;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.755460;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114257694 rs571618900 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15223;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571618900;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114260492 rs2272231 G T 100 PASS AC=19;AF=0.228634;AN=214;NS=2504;DP=19098;EAS_AF=0.1151;AMR_AF=0.1974;AFR_AF=0.5083;EUR_AF=0.1004;SAS_AF=0.1217;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.228634;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272231;CLNALLELEID=140094;CLNDN=Long_QT_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1044;ExAC_nontcga_ALL=0.1382;ExAC_nontcga_AFR=0.4694;ExAC_nontcga_AMR=0.1393;ExAC_nontcga_EAS=0.1218;ExAC_nontcga_FIN=0.0625;ExAC_nontcga_NFE=0.0986;ExAC_nontcga_OTH=0.1182;ExAC_nontcga_SAS=0.125;AF=0.2029;AF_popmax=0.4668;AF_male=0.2068;AF_female=0.1980;AF_raw=0.2033;AF_afr=0.4668;AF_sas=.;AF_amr=0.1339;AF_eas=0.1337;AF_nfe=0.1050;AF_fin=0.0648;AF_asj=0.0655;AF_oth=0.1169;non_topmed_AF_popmax=0.4673;non_neuro_AF_popmax=0.4697;non_cancer_AF_popmax=.;controls_AF_popmax=0.4723;Kaviar_AF=0.134468;Kaviar_AC=20789;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086178|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.343325;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114260538 rs2272230 C T 100 PASS AC=19;AF=0.230032;AN=214;NS=2504;DP=18944;EAS_AF=0.1151;AMR_AF=0.1974;AFR_AF=0.5136;EUR_AF=0.1004;SAS_AF=0.1217;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2030;AF_popmax=0.4672;AF_male=0.2070;AF_female=0.1980;AF_raw=0.2033;AF_afr=0.4672;AF_sas=.;AF_amr=0.1336;AF_eas=0.1327;AF_nfe=0.1047;AF_fin=0.0645;AF_asj=0.0655;AF_oth=0.1167;non_topmed_AF_popmax=0.4678;non_neuro_AF_popmax=0.4707;non_cancer_AF_popmax=.;controls_AF_popmax=0.4732;Kaviar_AF=0.0262804;Kaviar_AC=4063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086178|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114263101 rs62313243 T G 100 PASS AC=34;AF=0.0479233;AN=214;NS=2504;DP=16576;EAS_AF=0;AMR_AF=0.0865;AFR_AF=0.0083;EUR_AF=0.1322;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62313243;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1369;ExAC_nontcga_ALL=0.0958;ExAC_nontcga_AFR=0.0207;ExAC_nontcga_AMR=0.0579;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1187;ExAC_nontcga_NFE=0.1348;ExAC_nontcga_OTH=0.1067;ExAC_nontcga_SAS=0.0653;AF=0.0860;AF_popmax=0.1237;AF_male=0.0855;AF_female=0.0866;AF_raw=0.0860;AF_afr=0.0217;AF_sas=.;AF_amr=0.0723;AF_eas=0;AF_nfe=0.1237;AF_fin=0.1149;AF_asj=0.0828;AF_oth=0.1105;non_topmed_AF_popmax=0.1230;non_neuro_AF_popmax=0.1217;non_cancer_AF_popmax=.;controls_AF_popmax=0.1124;Kaviar_AF=0.0940673;Kaviar_AC=14543;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.613844;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 +4 114267023 rs9968405 G A 100 PASS AC=214;AF=0.9998;AN=214;NS=2504;DP=20096;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=0.999;SAS_AF=1;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.9998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9968405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9997;ExAC_nontcga_ALL=0.9998;ExAC_nontcga_AFR=0.9999;ExAC_nontcga_AMR=0.9999;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=0.9997;AF_popmax=1;AF_male=0.9997;AF_female=0.9998;AF_raw=0.9997;AF_afr=0.9999;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9995;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.973843;Kaviar_AC=150558;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.556547;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +4 114269499 rs534890560 T G 100 PASS AC=19;AF=0.0894569;AN=214;NS=2504;DP=18894;EAS_AF=0.2143;AMR_AF=0.0865;AFR_AF=0.0212;EUR_AF=0.1372;SAS_AF=0.0061;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0894569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534890560;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0028978;Kaviar_AC=448;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.524547;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114269509 rs2272234 G A 100 PASS AC=3;AF=0.0960463;AN=214;NS=2504;DP=18518;EAS_AF=0.0456;AMR_AF=0.0389;AFR_AF=0.2814;EUR_AF=0.0209;SAS_AF=0.0153;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0960463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272234;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0213;ExAC_nontcga_ALL=0.0404;ExAC_nontcga_AFR=0.2464;ExAC_nontcga_AMR=0.0187;ExAC_nontcga_EAS=0.0487;ExAC_nontcga_FIN=0.0084;ExAC_nontcga_NFE=0.0186;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0229;AF=0.0849;AF_popmax=0.2514;AF_male=0.0865;AF_female=0.0830;AF_raw=0.0848;AF_afr=0.2514;AF_sas=.;AF_amr=0.0367;AF_eas=0.0501;AF_nfe=0.0182;AF_fin=0.0124;AF_asj=0.0172;AF_oth=0.0359;non_topmed_AF_popmax=0.2512;non_neuro_AF_popmax=0.2559;non_cancer_AF_popmax=.;controls_AF_popmax=0.2471;Kaviar_AF=0.0393721;Kaviar_AC=6087;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.607284;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114269552 rs2272235 G A 100 PASS AC=38;AF=0.284744;AN=214;NS=2504;DP=18689;EAS_AF=0.1151;AMR_AF=0.2406;AFR_AF=0.6339;EUR_AF=0.169;SAS_AF=0.138;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.284744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2272235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2664;AF_popmax=0.5604;AF_male=0.2728;AF_female=0.2584;AF_raw=0.2664;AF_afr=0.5604;AF_sas=.;AF_amr=0.1762;AF_eas=0.1356;AF_nfe=0.1606;AF_fin=0.1203;AF_asj=0.1759;AF_oth=0.1719;non_topmed_AF_popmax=0.5611;non_neuro_AF_popmax=0.5601;non_cancer_AF_popmax=.;controls_AF_popmax=0.5650;Kaviar_AF=0.0361056;Kaviar_AC=5582;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.655079;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275177 rs202045447 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5403G:p.T1801T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202045447;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.640615;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275243 rs33966911 C T 100 PASS AC=24;AF=0.0389377;AN=214;NS=2504;DP=18608;EAS_AF=0.001;AMR_AF=0.0591;AFR_AF=0.0098;EUR_AF=0.1213;SAS_AF=0.0184;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5469T:p.P1823P;1000g2015aug_all=0.0389377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs33966911;CLNALLELEID=251312;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1119;ExAC_nontcga_ALL=0.0773;ExAC_nontcga_AFR=0.0179;ExAC_nontcga_AMR=0.0502;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1064;ExAC_nontcga_NFE=0.1145;ExAC_nontcga_OTH=0.1066;ExAC_nontcga_SAS=0.0293;AF=0.0814;AF_popmax=0.1211;AF_male=0.0801;AF_female=0.0830;AF_raw=0.0816;AF_afr=0.0186;AF_sas=.;AF_amr=0.0637;AF_eas=0.0013;AF_nfe=0.1211;AF_fin=0.0953;AF_asj=0.1207;AF_oth=0.0956;non_topmed_AF_popmax=0.1251;non_neuro_AF_popmax=0.1219;non_cancer_AF_popmax=.;controls_AF_popmax=0.1326;Kaviar_AF=0.0808916;Kaviar_AC=12506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.736381;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275541 rs201599166 G A 100 PASS AC=57;AF=0.26258;AN=214;NS=2504;DP=15779;EAS_AF=0.25;AMR_AF=0.2133;AFR_AF=0.2912;EUR_AF=0.2097;SAS_AF=0.3262;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G5767A:p.E1923K;1000g2015aug_all=0.26258;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201599166;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_rankscore=0.460;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.214;Polyphen2_HVAR_rankscore=0.422;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_converted_rankscore=0.229;LRT_pred=N;MutationTaster_score=0.546;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.385;MutationAssessor_score_rankscore=0.346;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_converted_rankscore=0.686;FATHMM_pred=T;PROVEAN_score=-1.98;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.503;VEST3_rankscore=0.548;MetaSVM_score=-0.610;MetaSVM_rankscore=0.644;MetaSVM_pred=T;MetaLR_score=0.273;MetaLR_rankscore=0.645;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.166;REVEL_rankscore=0.431;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.891;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.999;DANN_rankscore=0.956;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_rankscore=0.390;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.308;Eigen-PC-raw=0.345;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.560;integrated_fitCons_score_rankscore=0.301;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.535;phyloP100way_vertebrate_rankscore=0.601;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.259;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=13.581;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0.0021;ExAC_nontcga_FIN=0.0048;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0085057;Kaviar_AC=1315;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.921132;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|1 1|0 1|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|0 1|0 0|0 0|1 1|0 1|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 +4 114275942 rs3796928 C G 100 PASS AC=5;AF=0.11881;AN=214;NS=2504;DP=19930;EAS_AF=0.0466;AMR_AF=0.0533;AFR_AF=0.3563;EUR_AF=0.0249;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6168G:p.L2056L;1000g2015aug_all=0.11881;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3796928;CLNALLELEID=251313;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0244;ExAC_nontcga_ALL=0.0491;ExAC_nontcga_AFR=0.3132;ExAC_nontcga_AMR=0.0242;ExAC_nontcga_EAS=0.0507;ExAC_nontcga_FIN=0.0098;ExAC_nontcga_NFE=0.0233;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0243;AF=0.1046;AF_popmax=0.3153;AF_male=0.1074;AF_female=0.1012;AF_raw=0.1050;AF_afr=0.3153;AF_sas=.;AF_amr=0.0389;AF_eas=0.0538;AF_nfe=0.0209;AF_fin=0.0144;AF_asj=0.0310;AF_oth=0.0404;non_topmed_AF_popmax=0.3154;non_neuro_AF_popmax=0.3162;non_cancer_AF_popmax=.;controls_AF_popmax=0.3144;Kaviar_AF=0.0476902;Kaviar_AC=7373;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647808;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275950 rs200765866 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6176T:p.T2059M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200765866;CLNALLELEID=189235;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.832;Polyphen2_HDIV_rankscore=0.554;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.226;Polyphen2_HVAR_rankscore=0.459;Polyphen2_HVAR_pred=B;LRT_score=0.291;LRT_converted_rankscore=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.015;MutationAssessor_score_rankscore=0.552;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.676;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_converted_rankscore=0.307;PROVEAN_pred=N;VEST3_score=0.112;VEST3_rankscore=0.121;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.228;MetaLR_rankscore=0.593;MetaLR_pred=T;M-CAP_score=0.058;M-CAP_rankscore=0.674;M-CAP_pred=D;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.613;CADD_raw_rankscore=0.255;CADD_phred=13.92;DANN_score=0.993;DANN_rankscore=0.577;fathmm-MKL_coding_score=0.252;fathmm-MKL_coding_rankscore=0.224;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.532;Eigen-PC-raw=-0.652;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.462;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.5;GERP++_RS_rankscore=0.390;phyloP100way_vertebrate=0.880;phyloP100way_vertebrate_rankscore=0.276;phyloP20way_mammalian=0.015;phyloP20way_mammalian_rankscore=0.141;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=6.015;SiPhy_29way_logOdds_rankscore=0.187;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0008;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0010;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0006533;Kaviar_AC=101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647808;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114275980 rs149645600 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19097;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G6206A:p.R2069H;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149645600;CLNALLELEID=178534;CLNDN=Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.01;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.482;Polyphen2_HVAR_rankscore=0.485;Polyphen2_HVAR_pred=P;LRT_score=0.516;LRT_converted_rankscore=0.118;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=-0.31;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-0.26;PROVEAN_converted_rankscore=0.112;PROVEAN_pred=N;VEST3_score=0.116;VEST3_rankscore=0.168;MetaSVM_score=-0.812;MetaSVM_rankscore=0.544;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_rankscore=0.637;MetaLR_pred=T;M-CAP_score=0.107;M-CAP_rankscore=0.784;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.507;CADD_raw_rankscore=0.479;CADD_phred=23.1;DANN_score=0.975;DANN_rankscore=0.338;fathmm-MKL_coding_score=0.332;fathmm-MKL_coding_rankscore=0.245;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.005;Eigen-PC-raw=-0.100;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.56;GERP++_RS_rankscore=0.397;phyloP100way_vertebrate=4.377;phyloP100way_vertebrate_rankscore=0.591;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.984;phastCons100way_vertebrate_rankscore=0.356;phastCons20way_mammalian=0.087;phastCons20way_mammalian_rankscore=0.184;SiPhy_29way_logOdds=4.717;SiPhy_29way_logOdds_rankscore=0.122;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0006;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0009314;Kaviar_AC=144;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.572303;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276422 rs140926982 C G 100 PASS AC=3;AF=0.00139776;AN=214;NS=2504;DP=18893;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C6648G:p.G2216G;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140926982;CLNALLELEID=239317;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0033;ExAC_nontcga_ALL=0.0022;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0019;AF_popmax=0.0047;AF_male=0.0019;AF_female=0.0019;AF_raw=0.0019;AF_afr=0.0007;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0029;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0023221;Kaviar_AC=359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0002174|hsa-miR-484|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.886637;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +4 114276880 rs28377576 T C 100 PASS AC=24;AF=0.0920527;AN=214;NS=2504;DP=19744;EAS_AF=0.001;AMR_AF=0.0821;AFR_AF=0.1952;EUR_AF=0.1252;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T7106C:p.V2369A;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28377576;CLNALLELEID=44355;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.57;SIFT_converted_rankscore=0.066;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.406;LRT_converted_rankscore=0.130;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.61;MutationAssessor_score_rankscore=0.004;MutationAssessor_pred=N;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.650;FATHMM_pred=T;PROVEAN_score=-0.01;PROVEAN_converted_rankscore=0.072;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-1.047;MetaSVM_rankscore=0.151;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.250;CADD_raw_rankscore=0.005;CADD_phred=0.001;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.072;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.359;Eigen-PC-raw=-1.284;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.026;GERP++_RS_rankscore=0.134;phyloP100way_vertebrate=0.071;phyloP100way_vertebrate_rankscore=0.143;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.113;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.006;phastCons20way_mammalian_rankscore=0.095;SiPhy_29way_logOdds=1.293;SiPhy_29way_logOdds_rankscore=0.019;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1163;ExAC_nontcga_ALL=0.0959;ExAC_nontcga_AFR=0.1838;ExAC_nontcga_AMR=0.0566;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1092;ExAC_nontcga_NFE=0.1196;ExAC_nontcga_OTH=0.1153;ExAC_nontcga_SAS=0.0351;AF=0.1265;AF_popmax=0.1716;AF_male=0.1281;AF_female=0.1246;AF_raw=0.1267;AF_afr=0.1716;AF_sas=.;AF_amr=0.0686;AF_eas=0.0019;AF_nfe=0.1245;AF_fin=0.0988;AF_asj=0.1345;AF_oth=0.1050;non_topmed_AF_popmax=0.1720;non_neuro_AF_popmax=0.1722;non_cancer_AF_popmax=.;controls_AF_popmax=0.1771;Kaviar_AF=0.0970169;Kaviar_AC=14999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.181926;ALLELE_END;VINYL_score=4.5 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276884 rs3733615 A G 100 PASS AC=38;AF=0.284944;AN=214;NS=2504;DP=19817;EAS_AF=0.1151;AMR_AF=0.2392;AFR_AF=0.6339;EUR_AF=0.17;SAS_AF=0.1391;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7110G:p.Q2370Q;1000g2015aug_all=0.284944;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733615;CLNALLELEID=251314;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1620;ExAC_nontcga_ALL=0.1900;ExAC_nontcga_AFR=0.5691;ExAC_nontcga_AMR=0.1739;ExAC_nontcga_EAS=0.1222;ExAC_nontcga_FIN=0.1283;ExAC_nontcga_NFE=0.1604;ExAC_nontcga_OTH=0.1888;ExAC_nontcga_SAS=0.1467;AF=0.2665;AF_popmax=0.5596;AF_male=0.2725;AF_female=0.2590;AF_raw=0.2670;AF_afr=0.5596;AF_sas=.;AF_amr=0.1757;AF_eas=0.1354;AF_nfe=0.1611;AF_fin=0.1203;AF_asj=0.1793;AF_oth=0.1722;non_topmed_AF_popmax=0.5605;non_neuro_AF_popmax=0.5587;non_cancer_AF_popmax=.;controls_AF_popmax=0.5632;Kaviar_AF=0.185787;Kaviar_AC=28723;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG0677412|N/A|FOXH1|JASPAR,OREG1857110|N/A|RUNX1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.472388;ALLELE_END;VINYL_score=3 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 1|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276957 rs201693280 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19761;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7183C:p.T2395P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201693280;CLNALLELEID=453664;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_rankscore=0.574;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.543;Polyphen2_HVAR_rankscore=0.535;Polyphen2_HVAR_pred=P;LRT_score=0.127;LRT_converted_rankscore=0.188;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=-0.43;FATHMM_converted_rankscore=0.698;FATHMM_pred=T;PROVEAN_score=-1.97;PROVEAN_converted_rankscore=0.456;PROVEAN_pred=N;VEST3_score=0.285;VEST3_rankscore=0.344;MetaSVM_score=-0.737;MetaSVM_rankscore=0.586;MetaSVM_pred=T;MetaLR_score=0.284;MetaLR_rankscore=0.656;MetaLR_pred=T;M-CAP_score=0.043;M-CAP_rankscore=0.607;M-CAP_pred=D;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.715;CADD_raw_rankscore=0.162;CADD_phred=8.924;DANN_score=0.887;DANN_rankscore=0.176;fathmm-MKL_coding_score=0.293;fathmm-MKL_coding_rankscore=0.236;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.705;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-1.21;GERP++_RS_rankscore=0.090;phyloP100way_vertebrate=0.528;phyloP100way_vertebrate_rankscore=0.225;phyloP20way_mammalian=0.139;phyloP20way_mammalian_rankscore=0.223;phastCons100way_vertebrate=0.004;phastCons100way_vertebrate_rankscore=0.165;phastCons20way_mammalian=0.195;phastCons20way_mammalian_rankscore=0.216;SiPhy_29way_logOdds=7.675;SiPhy_29way_logOdds_rankscore=0.275;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000423|hsa-miR-125b-5p|Experimental,MIMAT0000443|hsa-miR-125a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1857110|N/A|RUNX1|PAZAR,OREG0432123|N/A|BATF::JUN|JASPAR,OREG1217977|N/A|SMARCA4|PAZAR,OREG1541715|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.223977;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114276986 rs181064820 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19388;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7212T:p.R2404S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181064820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.214;Polyphen2_HVAR_rankscore=0.774;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=-0.47;FATHMM_converted_rankscore=0.703;FATHMM_pred=T;PROVEAN_score=-1.15;PROVEAN_converted_rankscore=0.295;PROVEAN_pred=N;VEST3_score=0.804;VEST3_rankscore=0.793;MetaSVM_score=-0.423;MetaSVM_rankscore=0.713;MetaSVM_pred=T;MetaLR_score=0.413;MetaLR_rankscore=0.761;MetaLR_pred=T;M-CAP_score=0.108;M-CAP_rankscore=0.785;M-CAP_pred=D;REVEL_score=0.415;REVEL_rankscore=0.729;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.593;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.994;DANN_rankscore=0.617;fathmm-MKL_coding_score=0.826;fathmm-MKL_coding_rankscore=0.415;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.087;Eigen-PC-raw=0.054;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.545;GERP++_RS_rankscore=0.163;phyloP100way_vertebrate=1.208;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=0.230;phyloP20way_mammalian_rankscore=0.258;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=8.591;SiPhy_29way_logOdds_rankscore=0.327;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.428e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG1541715|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.745621;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278277 rs3733617 C T 100 PASS AC=14;AF=0.187899;AN=214;NS=2504;DP=21717;EAS_AF=0.1141;AMR_AF=0.1571;AFR_AF=0.4206;EUR_AF=0.0447;SAS_AF=0.1186;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C8503T:p.P2835S;1000g2015aug_all=0.187899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733617;CLNALLELEID=189247;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.559;SIFT_converted_rankscore=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.371;LRT_converted_rankscore=0.135;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_converted_rankscore=0.132;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.020;MetaSVM_score=-0.942;MetaSVM_rankscore=0.424;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.373;CADD_raw_rankscore=0.130;CADD_phred=6.374;DANN_score=0.883;DANN_rankscore=0.173;fathmm-MKL_coding_score=0.104;fathmm-MKL_coding_rankscore=0.157;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.893;Eigen-PC-raw=-0.867;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.431;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.54;GERP++_RS_rankscore=0.295;phyloP100way_vertebrate=-0.391;phyloP100way_vertebrate_rankscore=0.073;phyloP20way_mammalian=-0.420;phyloP20way_mammalian_rankscore=0.060;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=4.192;SiPhy_29way_logOdds_rankscore=0.098;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0457;ExAC_nontcga_ALL=0.0919;ExAC_nontcga_AFR=0.3606;ExAC_nontcga_AMR=0.1165;ExAC_nontcga_EAS=0.1221;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0409;ExAC_nontcga_OTH=0.0720;ExAC_nontcga_SAS=0.1112;AF=0.1340;AF_popmax=0.3658;AF_male=0.1378;AF_female=0.1292;AF_raw=0.1342;AF_afr=0.3658;AF_sas=.;AF_amr=0.1073;AF_eas=0.1324;AF_nfe=0.0371;AF_fin=0.0216;AF_asj=0.0448;AF_oth=0.0634;non_topmed_AF_popmax=0.3656;non_neuro_AF_popmax=0.3677;non_cancer_AF_popmax=.;controls_AF_popmax=0.3666;Kaviar_AF=0.0872628;Kaviar_AC=13491;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.526234;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278684 rs201571287 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22325;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C8910T:p.D2970D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201571287;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004926|hsa-miR-708-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.059120;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114278935 rs139007578 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20844;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9161T:p.A3054V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139007578;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.209;SIFT_converted_rankscore=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.7;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.887;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.515;MutationAssessor_score_rankscore=0.735;MutationAssessor_pred=M;FATHMM_score=-0.15;FATHMM_converted_rankscore=0.956;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_converted_rankscore=0.240;PROVEAN_pred=N;VEST3_score=0.504;VEST3_rankscore=0.651;MetaSVM_score=0.544;MetaSVM_rankscore=0.912;MetaSVM_pred=D;MetaLR_score=0.864;MetaLR_rankscore=0.955;MetaLR_pred=D;M-CAP_score=0.152;M-CAP_rankscore=0.834;M-CAP_pred=D;REVEL_score=0.304;REVEL_rankscore=0.629;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.67;DANN_score=0.998;DANN_rankscore=0.863;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.551;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.349;Eigen-PC-raw=0.409;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.78;GERP++_RS_rankscore=0.914;phyloP100way_vertebrate=4.074;phyloP100way_vertebrate_rankscore=0.571;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.972;phastCons20way_mammalian_rankscore=0.466;SiPhy_29way_logOdds=20.014;SiPhy_29way_logOdds_rankscore=0.975;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.859512;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279422 rs10013743 A G 100 PASS AC=26;AF=0.0920527;AN=214;NS=2504;DP=19702;EAS_AF=0.001;AMR_AF=0.0821;AFR_AF=0.1936;EUR_AF=0.1272;SAS_AF=0.0194;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A9648G:p.E3216E;1000g2015aug_all=0.0920527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10013743;CLNALLELEID=251315;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1158;ExAC_nontcga_ALL=0.0961;ExAC_nontcga_AFR=0.1837;ExAC_nontcga_AMR=0.0569;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1090;ExAC_nontcga_NFE=0.1199;ExAC_nontcga_OTH=0.1153;ExAC_nontcga_SAS=0.0351;AF=0.1264;AF_popmax=0.1716;AF_male=0.1281;AF_female=0.1242;AF_raw=0.1266;AF_afr=0.1716;AF_sas=.;AF_amr=0.0684;AF_eas=0.0019;AF_nfe=0.1240;AF_fin=0.0987;AF_asj=0.1345;AF_oth=0.1066;non_topmed_AF_popmax=0.1721;non_neuro_AF_popmax=0.1707;non_cancer_AF_popmax=.;controls_AF_popmax=0.1759;Kaviar_AF=0.0981941;Kaviar_AC=15181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.272082;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279628 rs36210417 T C 100 PASS AC=4;AF=0.00399361;AN=214;NS=2504;DP=19929;EAS_AF=0;AMR_AF=0.013;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0031;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T9854C:p.I3285T;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36210417;CLNALLELEID=188392;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.922;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.975;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_converted_rankscore=0.527;PROVEAN_pred=N;VEST3_score=0.719;VEST3_rankscore=0.930;MetaSVM_score=0.882;MetaSVM_rankscore=0.954;MetaSVM_pred=D;MetaLR_score=0.900;MetaLR_rankscore=0.967;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.541;REVEL_rankscore=0.811;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.950;CADD_raw_rankscore=0.666;CADD_phred=25.0;DANN_score=0.998;DANN_rankscore=0.868;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_rankscore=0.678;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.698;Eigen-PC-raw=0.683;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=4.699;phyloP100way_vertebrate_rankscore=0.612;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.812;phastCons20way_mammalian_rankscore=0.340;SiPhy_29way_logOdds=16.170;SiPhy_29way_logOdds_rankscore=0.815;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0090;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0074;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0059;ExAC_nontcga_NFE=0.0109;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0047;AF=0.0079;AF_popmax=0.0126;AF_male=0.0069;AF_female=0.0092;AF_raw=0.0079;AF_afr=0.0013;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0055;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0132;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0080917;Kaviar_AC=1251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.821681;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114279674 rs34270799 C A 100 PASS AC=8;AF=0.00998403;AN=214;NS=2504;DP=20137;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0061;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9900A:p.S3300R;1000g2015aug_all=0.00998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34270799;CLNALLELEID=189251;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_rankscore=0.610;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.445;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.425;MutationAssessor_score_rankscore=0.705;MutationAssessor_pred=M;FATHMM_score=-0.36;FATHMM_converted_rankscore=0.963;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_converted_rankscore=0.452;PROVEAN_pred=N;VEST3_score=0.283;VEST3_rankscore=0.342;MetaSVM_score=0.401;MetaSVM_rankscore=0.891;MetaSVM_pred=D;MetaLR_score=0.744;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.371;CADD_raw_rankscore=0.346;CADD_phred=18.63;DANN_score=0.994;DANN_rankscore=0.634;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_rankscore=0.418;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.020;Eigen-PC-raw=0.017;GenoCanyon_score=0.957;GenoCanyon_score_rankscore=0.282;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.09;GERP++_RS_rankscore=0.469;phyloP100way_vertebrate=2.136;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=9.521;SiPhy_29way_logOdds_rankscore=0.381;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0317;ExAC_nontcga_ALL=0.0179;ExAC_nontcga_AFR=0.0037;ExAC_nontcga_AMR=0.0111;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0257;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0081;AF=0.0211;AF_popmax=0.0296;AF_male=0.0206;AF_female=0.0218;AF_raw=0.0212;AF_afr=0.0057;AF_sas=.;AF_amr=0.0189;AF_eas=0.0006;AF_nfe=0.0296;AF_fin=0.0322;AF_asj=0.0103;AF_oth=0.0230;non_topmed_AF_popmax=0.0291;non_neuro_AF_popmax=0.0290;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.0193529;Kaviar_AC=2992;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.641676;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114280145 rs142908806 G A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=20138;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G10371A:p.T3457T;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142908806;CLNALLELEID=239329;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0017;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0014;AF_raw=0.0017;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0026972;Kaviar_AC=417;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.683714;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114280169 rs147423696 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20692;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G10395A:p.E3465E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147423696;CLNALLELEID=221432;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=8.953e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0020;AF_popmax=0.0034;AF_male=0.0020;AF_female=0.0021;AF_raw=0.0020;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0034;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0030;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0016;Kaviar_AF=0.0022315;Kaviar_AC=345;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.818065;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114284645 rs35728190 C T 100 PASS AC=24;AF=0.0756789;AN=214;NS=2504;DP=21049;EAS_AF=0.001;AMR_AF=0.0749;AFR_AF=0.1377;EUR_AF=0.1243;SAS_AF=0.0194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0756789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35728190;CLNALLELEID=140097;CLNDN=Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1156;ExAC_nontcga_ALL=0.0898;ExAC_nontcga_AFR=0.1192;ExAC_nontcga_AMR=0.0552;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.1083;ExAC_nontcga_NFE=0.1191;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.0345;AF=0.1093;AF_popmax=0.1240;AF_male=0.1098;AF_female=0.1087;AF_raw=0.1094;AF_afr=0.1117;AF_sas=.;AF_amr=0.0649;AF_eas=0.0019;AF_nfe=0.1240;AF_fin=0.0975;AF_asj=0.1345;AF_oth=0.1013;non_topmed_AF_popmax=0.1274;non_neuro_AF_popmax=0.1249;non_cancer_AF_popmax=.;controls_AF_popmax=0.1348;Kaviar_AF=0.0913895;Kaviar_AC=14129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114286207 rs66785829 T A 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18393;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon40:c.T4646A:p.V1549D,ANK2:NM_001148:exon41:c.T10901A:p.V3634D,ANK2:NM_001127493:exon42:c.T4619A:p.V1540D;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66785829;CLNALLELEID=78495;CLNDN=Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.365;SIFT_converted_rankscore=0.395;SIFT_pred=T;Polyphen2_HDIV_score=0.07;Polyphen2_HDIV_rankscore=0.259;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.211;Polyphen2_HVAR_rankscore=0.365;Polyphen2_HVAR_pred=B;LRT_score=0.369;LRT_converted_rankscore=0.135;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.464;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_score_rankscore=0.304;MutationAssessor_pred=L;FATHMM_score=-2.11;FATHMM_converted_rankscore=0.862;FATHMM_pred=D;PROVEAN_score=-1.77;PROVEAN_converted_rankscore=0.658;PROVEAN_pred=N;VEST3_score=0.618;VEST3_rankscore=0.788;MetaSVM_score=-0.501;MetaSVM_rankscore=0.686;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_rankscore=0.734;MetaLR_pred=T;M-CAP_score=0.220;M-CAP_rankscore=0.878;M-CAP_pred=D;REVEL_score=0.615;REVEL_rankscore=0.852;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.753;CADD_raw_rankscore=0.637;CADD_phred=24.7;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.942;fathmm-MKL_coding_rankscore=0.602;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.135;Eigen-PC-raw=0.022;GenoCanyon_score=0.725;GenoCanyon_score_rankscore=0.230;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.28;GERP++_RS_rankscore=0.500;phyloP100way_vertebrate=3.500;phyloP100way_vertebrate_rankscore=0.528;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=1.572;SiPhy_29way_logOdds_rankscore=0.024;Interpro_domain=Ankyrin_repeat-containing_domain\x3bDeath_domain|Death-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0031;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0008;AF=0.0017;AF_popmax=0.0024;AF_male=0.0019;AF_female=0.0014;AF_raw=0.0017;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0024;AF_fin=0.0020;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0018;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0026067;Kaviar_AC=403;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.643542;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114286357 rs34201791 ATG A 100 PASS AC=198;AF=0.76877;AN=214;NS=2504;DP=17914;EAS_AF=0.8919;AMR_AF=0.8444;AFR_AF=0.4622;EUR_AF=0.8897;SAS_AF=0.8783;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.76877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367606815;CLNALLELEID=500427;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5128;ExAC_nontcga_AFR=0.3615;ExAC_nontcga_AMR=0.5301;ExAC_nontcga_EAS=0.5470;ExAC_nontcga_FIN=0.5569;ExAC_nontcga_NFE=0.5255;ExAC_nontcga_OTH=0.5118;ExAC_nontcga_SAS=0.5054;AF=0.6557;AF_popmax=0.8410;AF_male=0.6510;AF_female=0.6616;AF_raw=0.6476;AF_afr=0.3734;AF_sas=.;AF_amr=0.7111;AF_eas=0.8410;AF_nfe=0.7821;AF_fin=0.7049;AF_asj=0.7941;AF_oth=0.7321;non_topmed_AF_popmax=0.8391;non_neuro_AF_popmax=0.8410;non_cancer_AF_popmax=.;controls_AF_popmax=0.8341;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.447315;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +4 114289049 rs201999499 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21331;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201999499;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.594e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.87e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.691871;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114289062 rs114788911 G A 100 PASS AC=4;AF=0.0714856;AN=214;NS=2504;DP=21462;EAS_AF=0.1181;AMR_AF=0.0663;AFR_AF=0.0023;EUR_AF=0.0249;SAS_AF=0.1687;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0714856;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114788911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0224;AF_popmax=0.1091;AF_male=0.0236;AF_female=0.0208;AF_raw=0.0224;AF_afr=0.0057;AF_sas=.;AF_amr=0.0768;AF_eas=0.1091;AF_nfe=0.0205;AF_fin=0.0193;AF_asj=0.0138;AF_oth=0.0276;non_topmed_AF_popmax=0.1072;non_neuro_AF_popmax=0.1091;non_cancer_AF_popmax=.;controls_AF_popmax=0.1061;Kaviar_AF=0.0079559;Kaviar_AC=1230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.000845;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114294308 rs2293324 T C 100 PASS AC=38;AF=0.313299;AN=214;NS=2504;DP=21527;EAS_AF=0.1359;AMR_AF=0.2363;AFR_AF=0.7277;EUR_AF=0.168;SAS_AF=0.1401;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon43:c.T5418C:p.H1806H,ANK2:NM_001148:exon44:c.T11673C:p.H3891H,ANK2:NM_001127493:exon45:c.T5391C:p.H1797H;1000g2015aug_all=0.313299;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2293324;CLNALLELEID=140100;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1601;ExAC_nontcga_ALL=0.1971;ExAC_nontcga_AFR=0.6513;ExAC_nontcga_AMR=0.1793;ExAC_nontcga_EAS=0.1380;ExAC_nontcga_FIN=0.1240;ExAC_nontcga_NFE=0.1580;ExAC_nontcga_OTH=0.1873;ExAC_nontcga_SAS=0.1462;AF=0.2901;AF_popmax=0.6423;AF_male=0.2978;AF_female=0.2805;AF_raw=0.2904;AF_afr=0.6423;AF_sas=.;AF_amr=0.1840;AF_eas=0.1491;AF_nfe=0.1614;AF_fin=0.1131;AF_asj=0.1690;AF_oth=0.1801;non_topmed_AF_popmax=0.6429;non_neuro_AF_popmax=0.6405;non_cancer_AF_popmax=.;controls_AF_popmax=0.6381;Kaviar_AF=0.194545;Kaviar_AC=30077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.769104;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|1 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 114302634 rs35446871 C T 100 PASS AC=6;AF=0.0177716;AN=214;NS=2504;DP=19143;EAS_AF=0;AMR_AF=0.0346;AFR_AF=0.0234;EUR_AF=0.0308;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=ANK2;GeneDetail.refGene=NM_001127493:c.*7C>T\x3bNM_020977:c.*7C>T\x3bNM_001148:c.*7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35446871;CLNALLELEID=140103;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0347;ExAC_nontcga_ALL=0.0286;ExAC_nontcga_AFR=0.0260;ExAC_nontcga_AMR=0.0233;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0324;ExAC_nontcga_NFE=0.0407;ExAC_nontcga_OTH=0.0235;ExAC_nontcga_SAS=0.0059;AF=0.0274;AF_popmax=0.0281;AF_male=0.0269;AF_female=0.0279;AF_raw=0.0274;AF_afr=0.0281;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0281;AF_fin=0.0380;AF_asj=0.0310;AF_oth=0.0239;non_topmed_AF_popmax=0.0283;non_neuro_AF_popmax=0.0316;non_cancer_AF_popmax=.;controls_AF_popmax=0.0311;Kaviar_AF=0.0294045;Kaviar_AC=4546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001086182|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732055;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072006 rs200211984 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16378;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200211984;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0007;AF_popmax=0.0011;AF_male=0.0006;AF_female=0.0009;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.000912;Kaviar_AC=141;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072187 rs17851524 A G 100 PASS AC=4;AF=0.00379393;AN=214;NS=2504;DP=17712;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon3:c.A237G:p.A79A;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17851524;CLNALLELEID=40448;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0070;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0058;ExAC_nontcga_NFE=0.0149;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0035;AF=0.0084;AF_popmax=0.0125;AF_male=0.0085;AF_female=0.0082;AF_raw=0.0084;AF_afr=0.0030;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0125;AF_fin=0.0049;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0098446;Kaviar_AC=1522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.332482;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 120072233 rs6828875 G C 100 PASS AC=145;AF=0.54353;AN=214;NS=2504;DP=17963;EAS_AF=0.6141;AMR_AF=0.6657;AFR_AF=0.2458;EUR_AF=0.7008;SAS_AF=0.6247;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.54353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6828875;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7245;ExAC_nontcga_ALL=0.6444;ExAC_nontcga_AFR=0.3106;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.5878;ExAC_nontcga_FIN=0.7337;ExAC_nontcga_NFE=0.6986;ExAC_nontcga_OTH=0.6402;ExAC_nontcga_SAS=0.6008;AF=0.5925;AF_popmax=0.7029;AF_male=0.5909;AF_female=0.5945;AF_raw=0.5928;AF_afr=0.3181;AF_sas=.;AF_amr=0.6844;AF_eas=0.6029;AF_nfe=0.7029;AF_fin=0.7356;AF_asj=0.6414;AF_oth=0.6701;non_topmed_AF_popmax=0.6957;non_neuro_AF_popmax=0.7012;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.601726;Kaviar_AC=93028;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325671::-0.326865;Heart_Left_Ventricle=Heart_Left_Ventricle::0.32342::-0.327694;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120072238 rs6828349 A G 100 PASS AC=145;AF=0.544129;AN=214;NS=2504;DP=17845;EAS_AF=0.6141;AMR_AF=0.6657;AFR_AF=0.2481;EUR_AF=0.7008;SAS_AF=0.6247;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.544129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6828349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7248;ExAC_nontcga_ALL=0.6447;ExAC_nontcga_AFR=0.3107;ExAC_nontcga_AMR=0.6979;ExAC_nontcga_EAS=0.5888;ExAC_nontcga_FIN=0.7336;ExAC_nontcga_NFE=0.6987;ExAC_nontcga_OTH=0.6420;ExAC_nontcga_SAS=0.6010;AF=0.5923;AF_popmax=0.7026;AF_male=0.5907;AF_female=0.5943;AF_raw=0.5931;AF_afr=0.3184;AF_sas=.;AF_amr=0.6836;AF_eas=0.6023;AF_nfe=0.7026;AF_fin=0.7359;AF_asj=0.6414;AF_oth=0.6698;non_topmed_AF_popmax=0.6953;non_neuro_AF_popmax=0.7009;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.6371;Kaviar_AC=98497;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.326336::-0.33103;Heart_Left_Ventricle=Heart_Left_Ventricle::0.324074::-0.328466;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120079159 rs11721566 A G 100 PASS AC=145;AF=0.546326;AN=214;NS=2504;DP=16687;EAS_AF=0.628;AMR_AF=0.6657;AFR_AF=0.2458;EUR_AF=0.7008;SAS_AF=0.6247;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.546326;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11721566;CLNALLELEID=40447;CLNDN=Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided;CLNDISDB=MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7257;ExAC_nontcga_ALL=0.6460;ExAC_nontcga_AFR=0.3099;ExAC_nontcga_AMR=0.6997;ExAC_nontcga_EAS=0.6125;ExAC_nontcga_FIN=0.7350;ExAC_nontcga_NFE=0.6992;ExAC_nontcga_OTH=0.6402;ExAC_nontcga_SAS=0.5994;AF=0.5952;AF_popmax=0.7052;AF_male=0.5934;AF_female=0.5975;AF_raw=0.5947;AF_afr=0.3203;AF_sas=.;AF_amr=0.6851;AF_eas=0.6168;AF_nfe=0.7052;AF_fin=0.7360;AF_asj=0.6389;AF_oth=0.6728;non_topmed_AF_popmax=0.6983;non_neuro_AF_popmax=0.7035;non_cancer_AF_popmax=.;controls_AF_popmax=0.7114;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.325095::-0.334906;Heart_Left_Ventricle=Heart_Left_Ventricle::0.323529::-0.329626;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.369454;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 1|0 1|0 1|0 1|0 1|0 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|0 1|0 0|0 1|0 1|0 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 +4 120085448 rs7687613 A G 100 PASS AC=7;AF=0.0838658;AN=214;NS=2504;DP=16259;EAS_AF=0.0387;AMR_AF=0.0389;AFR_AF=0.1997;EUR_AF=0.0219;SAS_AF=0.0695;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon5:c.A459G:p.E153E;1000g2015aug_all=0.0838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7687613;CLNALLELEID=40446;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0248;ExAC_nontcga_ALL=0.0448;ExAC_nontcga_AFR=0.1792;ExAC_nontcga_AMR=0.0360;ExAC_nontcga_EAS=0.0337;ExAC_nontcga_FIN=0.0212;ExAC_nontcga_NFE=0.0245;ExAC_nontcga_OTH=0.0476;ExAC_nontcga_SAS=0.0591;AF=0.0671;AF_popmax=0.1733;AF_male=0.0701;AF_female=0.0634;AF_raw=0.0672;AF_afr=0.1733;AF_sas=.;AF_amr=0.0307;AF_eas=0.0385;AF_nfe=0.0253;AF_fin=0.0233;AF_asj=0.0414;AF_oth=0.0267;non_topmed_AF_popmax=0.1729;non_neuro_AF_popmax=0.1763;non_cancer_AF_popmax=.;controls_AF_popmax=0.1816;Kaviar_AF=0.0428714;Kaviar_AC=6628;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.754084;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +4 120107098 rs112369914 G GT 100 PASS AC=37;AF=0.240216;AN=214;NS=2504;DP=17173;EAS_AF=0.1339;AMR_AF=0.1988;AFR_AF=0.3888;EUR_AF=0.1978;SAS_AF=0.2219;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240216;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112369914;CLNALLELEID=54951;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1878;ExAC_nontcga_ALL=0.2896;ExAC_nontcga_AFR=0.4814;ExAC_nontcga_AMR=0.2974;ExAC_nontcga_EAS=0.2127;ExAC_nontcga_FIN=0.2464;ExAC_nontcga_NFE=0.2672;ExAC_nontcga_OTH=0.2582;ExAC_nontcga_SAS=0.3018;AF=0.2820;AF_popmax=0.4718;AF_male=0.2815;AF_female=0.2825;AF_raw=0.2754;AF_afr=0.4718;AF_sas=.;AF_amr=0.2493;AF_eas=0.1543;AF_nfe=0.2051;AF_fin=0.2183;AF_asj=0.2391;AF_oth=0.2393;non_topmed_AF_popmax=0.4708;non_neuro_AF_popmax=0.4799;non_cancer_AF_popmax=.;controls_AF_popmax=0.4708;Kaviar_AF=0.0057502;Kaviar_AC=889;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.515454;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 +4 186064502 rs3733652 G A 100 PASS AC=4;AF=0.0788738;AN=214;NS=2504;DP=8121;EAS_AF=0.0813;AMR_AF=0.0576;AFR_AF=0.1271;EUR_AF=0.0209;SAS_AF=0.0859;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SLC25A4;GeneDetail.refGene=NM_001151:c.-25G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0788738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3733652;CLNALLELEID=142856;CLNDN=not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions;CLNDISDB=MedGen:CN169374|MedGen:CN239267;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0592;ExAC_nontcga_AFR=0.0978;ExAC_nontcga_AMR=0.0652;ExAC_nontcga_EAS=0.0868;ExAC_nontcga_FIN=0.0357;ExAC_nontcga_NFE=0.0185;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0726;AF=0.0485;AF_popmax=0.0990;AF_male=0.0500;AF_female=0.0468;AF_raw=0.0487;AF_afr=0.0990;AF_sas=.;AF_amr=0.0865;AF_eas=0.0918;AF_nfe=0.0142;AF_fin=0.0531;AF_asj=0.0138;AF_oth=0.0388;non_topmed_AF_popmax=0.0987;non_neuro_AF_popmax=0.1002;non_cancer_AF_popmax=.;controls_AF_popmax=0.1017;Kaviar_AF=0.0132857;Kaviar_AC=2054;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177010|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1514830|N/A|EGR1|PAZAR,OREG1274044|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.145465;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186066373 rs149101873 T C 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=16989;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.006;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLC25A4:NM_001151:exon2:c.T567C:p.A189A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149101873;CLNALLELEID=211025;CLNDN=not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239267|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0105;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0200;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0076;AF=0.0110;AF_popmax=0.0146;AF_male=0.0096;AF_female=0.0127;AF_raw=0.0110;AF_afr=0.0023;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0146;AF_fin=0.0239;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0168;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0207;Kaviar_AF=0.0085963;Kaviar_AC=1329;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177010|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.780542;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186067934 rs201780209 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21290;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLC25A4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201780209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.421e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=6.483e-05;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.345e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.870275;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186423397 rs370106550 G A 100 PASS AC=1;AF=0.00379393;AN=214;NS=2504;DP=19534;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0123;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_014476:c.*51C>T\x3bNM_001257962:c.*51C>T\x3bNM_001257963:c.*51C>T\x3bNM_001114107:c.*51C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370106550;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0210;AF=0.0030;AF_popmax=0.0059;AF_male=0.0030;AF_female=0.0030;AF_raw=0.0030;AF_afr=0.0008;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0012;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0052069;Kaviar_AC=805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186423436 rs8315 G A 100 PASS AC=4;AF=0.00858626;AN=214;NS=2504;DP=18435;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.003;EUR_AF=0.0089;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_014476:c.*12C>T\x3bNM_001257962:c.*12C>T\x3bNM_001257963:c.*12C>T\x3bNM_001114107:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8315;CLNALLELEID=142379;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0129;ExAC_nontcga_ALL=0.0109;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0126;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0230;AF=0.0083;AF_popmax=0.0131;AF_male=0.0081;AF_female=0.0086;AF_raw=0.0083;AF_afr=0.0021;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0032;AF_asj=0.0345;AF_oth=0.0111;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0109442;Kaviar_AC=1692;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186423637 rs4635850 G A 100 PASS AC=153;AF=0.659545;AN=214;NS=2504;DP=19430;EAS_AF=0.8125;AMR_AF=0.7896;AFR_AF=0.3132;EUR_AF=0.825;SAS_AF=0.7076;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V;1000g2015aug_all=0.659545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4635850;CLNALLELEID=142378;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.088;esp6500siv2_ea=0.8535;ExAC_nontcga_ALL=0.7803;ExAC_nontcga_AFR=0.3660;ExAC_nontcga_AMR=0.7554;ExAC_nontcga_EAS=0.8076;ExAC_nontcga_FIN=0.8770;ExAC_nontcga_NFE=0.8488;ExAC_nontcga_OTH=0.7882;ExAC_nontcga_SAS=0.7463;AF=0.7185;AF_popmax=0.8586;AF_male=0.7110;AF_female=0.7280;AF_raw=0.7182;AF_afr=0.3705;AF_sas=.;AF_amr=0.7736;AF_eas=0.8140;AF_nfe=0.8586;AF_fin=0.8808;AF_asj=0.7448;AF_oth=0.8097;non_topmed_AF_popmax=0.8597;non_neuro_AF_popmax=0.8590;non_cancer_AF_popmax=.;controls_AF_popmax=0.8734;Kaviar_AF=0.778496;Kaviar_AC=120357;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.078458;ALLELE_END;VINYL_score=1 GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186423655 rs12644280 G A 100 PASS AC=24;AF=0.139177;AN=214;NS=2504;DP=19059;EAS_AF=0.3085;AMR_AF=0.1527;AFR_AF=0.0182;EUR_AF=0.1581;SAS_AF=0.0992;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12644280;CLNALLELEID=142377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1602;ExAC_nontcga_ALL=0.1549;ExAC_nontcga_AFR=0.0364;ExAC_nontcga_AMR=0.1904;ExAC_nontcga_EAS=0.2981;ExAC_nontcga_FIN=0.1350;ExAC_nontcga_NFE=0.1599;ExAC_nontcga_OTH=0.1095;ExAC_nontcga_SAS=0.1206;AF=0.1333;AF_popmax=0.3117;AF_male=0.1321;AF_female=0.1348;AF_raw=0.1334;AF_afr=0.0380;AF_sas=.;AF_amr=0.1557;AF_eas=0.3117;AF_nfe=0.1655;AF_fin=0.1353;AF_asj=0.1379;AF_oth=0.1575;non_topmed_AF_popmax=0.3129;non_neuro_AF_popmax=0.3117;non_cancer_AF_popmax=.;controls_AF_popmax=0.3202;Kaviar_AF=0.156382;Kaviar_AC=24177;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 +4 186423677 rs10866276 G A 100 PASS AC=153;AF=0.659545;AN=214;NS=2504;DP=18980;EAS_AF=0.8125;AMR_AF=0.7896;AFR_AF=0.3132;EUR_AF=0.825;SAS_AF=0.7076;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.659545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10866276;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8542;ExAC_nontcga_ALL=0.7821;ExAC_nontcga_AFR=0.3687;ExAC_nontcga_AMR=0.7576;ExAC_nontcga_EAS=0.8087;ExAC_nontcga_FIN=0.8774;ExAC_nontcga_NFE=0.8497;ExAC_nontcga_OTH=0.7934;ExAC_nontcga_SAS=0.7467;AF=0.7191;AF_popmax=0.8588;AF_male=0.7112;AF_female=0.7290;AF_raw=0.7187;AF_afr=0.3704;AF_sas=.;AF_amr=0.7759;AF_eas=0.8185;AF_nfe=0.8588;AF_fin=0.8803;AF_asj=0.7448;AF_oth=0.8112;non_topmed_AF_popmax=0.8600;non_neuro_AF_popmax=0.8593;non_cancer_AF_popmax=.;controls_AF_popmax=0.8739;Kaviar_AF=0.76966;Kaviar_AC=118991;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186425571 rs56274515 A G 100 PASS AC=3;AF=0.0369409;AN=214;NS=2504;DP=22177;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0.112;EUR_AF=0.008;SAS_AF=0.0225;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0369409;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56274515;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0358;AF_popmax=0.1020;AF_male=0.0378;AF_female=0.0333;AF_raw=0.0359;AF_afr=0.1020;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0165;non_topmed_AF_popmax=0.1022;non_neuro_AF_popmax=0.1069;non_cancer_AF_popmax=.;controls_AF_popmax=0.1103;Kaviar_AF=0.0035575;Kaviar_AC=550;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1725750|N/A|HNF4A|PAZAR,OREG1749494|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186425638 rs143812960 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19832;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon4:c.G395A:p.S132N,PDLIM3:NM_001114107:exon6:c.G752A:p.S251N,PDLIM3:NM_001257962:exon6:c.G632A:p.S211N,PDLIM3:NM_014476:exon7:c.G896A:p.S299N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143812960;CLNALLELEID=198164;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.664;SIFT_converted_rankscore=0.046;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-0.49;MutationAssessor_score_rankscore=0.026;MutationAssessor_pred=N;FATHMM_score=-2.25;FATHMM_converted_rankscore=0.873;FATHMM_pred=D;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.07;VEST3_rankscore=0.101;MetaSVM_score=-0.715;MetaSVM_rankscore=0.597;MetaSVM_pred=T;MetaLR_score=0.285;MetaLR_rankscore=0.657;MetaLR_pred=T;M-CAP_score=0.015;M-CAP_rankscore=0.349;M-CAP_pred=T;REVEL_score=0.276;REVEL_rankscore=0.597;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.167;CADD_raw_rankscore=0.322;CADD_phred=17.29;DANN_score=0.917;DANN_rankscore=0.204;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_rankscore=0.548;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.448;Eigen-PC-raw=-0.198;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=4.69;GERP++_RS_rankscore=0.584;phyloP100way_vertebrate=1.002;phyloP100way_vertebrate_rankscore=0.292;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=9.082;SiPhy_29way_logOdds_rankscore=0.355;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bZinc_finger,_LIM-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.975e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.72e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1749494|N/A|HNF4A|PAZAR,OREG1842298|N/A|RB1|PAZAR,OREG1302906|N/A|CEBPA|PAZAR,OREG1725750|N/A|HNF4A|PAZAR,OREG1787830|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.515990;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427686 rs201775052 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17264;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C282T:p.D94D,PDLIM3:NM_001114107:exon5:c.C639T:p.D213D,PDLIM3:NM_001257962:exon5:c.C519T:p.D173D,PDLIM3:NM_014476:exon6:c.C783T:p.D261D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201775052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427735 rs62347360 G A 100 PASS AC=5;AF=0.00559105;AN=214;NS=2504;DP=16250;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C233T:p.T78I,PDLIM3:NM_001114107:exon5:c.C590T:p.T197I,PDLIM3:NM_001257962:exon5:c.C470T:p.T157I,PDLIM3:NM_014476:exon6:c.C734T:p.T245I;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62347360;CLNALLELEID=40499;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.227;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_rankscore=0.312;Polyphen2_HVAR_pred=B;LRT_score=0.048;LRT_converted_rankscore=0.233;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.272;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.435;PROVEAN_pred=N;VEST3_score=0.032;VEST3_rankscore=0.021;MetaSVM_score=-1.058;MetaSVM_rankscore=0.123;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.150;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.346;CADD_raw_rankscore=0.226;CADD_phred=12.51;DANN_score=0.974;DANN_rankscore=0.330;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.397;Eigen-PC-raw=-0.367;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=1.769;phyloP100way_vertebrate_rankscore=0.379;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=11.367;SiPhy_29way_logOdds_rankscore=0.487;Interpro_domain=Domain_of_unknown_function_DUF4749\x3bDomain_of_unknown_function_DUF4749|Zasp-like_motif;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0210;ExAC_nontcga_ALL=0.0170;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0044;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0458;ExAC_nontcga_NFE=0.0246;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0039;AF=0.0216;AF_popmax=0.0279;AF_male=0.0200;AF_female=0.0236;AF_raw=0.0216;AF_afr=0.0047;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0279;AF_fin=0.0509;AF_asj=0;AF_oth=0.0230;non_topmed_AF_popmax=0.0273;non_neuro_AF_popmax=0.0281;non_cancer_AF_popmax=.;controls_AF_popmax=0.0267;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.985870;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186427841 rs2306705 T C 100 PASS AC=154;AF=0.764177;AN=214;NS=2504;DP=13794;EAS_AF=0.8085;AMR_AF=0.83;AFR_AF=0.6785;EUR_AF=0.826;SAS_AF=0.7239;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.764177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306705;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8549;ExAC_nontcga_ALL=0.8118;ExAC_nontcga_AFR=0.6964;ExAC_nontcga_AMR=0.7688;ExAC_nontcga_EAS=0.7964;ExAC_nontcga_FIN=0.8902;ExAC_nontcga_NFE=0.8512;ExAC_nontcga_OTH=0.8104;ExAC_nontcga_SAS=0.7504;AF=0.8110;AF_popmax=0.8605;AF_male=0.8066;AF_female=0.8164;AF_raw=0.8105;AF_afr=0.6915;AF_sas=.;AF_amr=0.7960;AF_eas=0.8039;AF_nfe=0.8605;AF_fin=0.8958;AF_asj=0.7414;AF_oth=0.8330;non_topmed_AF_popmax=0.8621;non_neuro_AF_popmax=0.8606;non_cancer_AF_popmax=.;controls_AF_popmax=0.8748;Kaviar_AF=0.787085;Kaviar_AC=121685;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|1 0|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186427871 rs2306706 A G 100 PASS AC=57;AF=0.197883;AN=214;NS=2504;DP=15756;EAS_AF=0.1964;AMR_AF=0.1527;AFR_AF=0.2088;EUR_AF=0.163;SAS_AF=0.2526;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.197883;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306706;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1514;AF_popmax=0.2058;AF_male=0.1554;AF_female=0.1463;AF_raw=0.1517;AF_afr=0.2058;AF_sas=.;AF_amr=0.1851;AF_eas=0.1996;AF_nfe=0.1237;AF_fin=0.1013;AF_asj=0.2448;AF_oth=0.1479;non_topmed_AF_popmax=0.2056;non_neuro_AF_popmax=0.2121;non_cancer_AF_popmax=.;controls_AF_popmax=0.2016;Kaviar_AF=0.0281885;Kaviar_AC=4358;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 1|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 +4 186435435 rs138670107 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=20343;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon2:c.G150A:p.P50P,PDLIM3:NM_001257962:exon4:c.G387A:p.P129P,PDLIM3:NM_014476:exon4:c.G387A:p.P129P;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138670107;CLNALLELEID=142372;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0029;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0011;AF=0.0012;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0023;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1598303|N/A|FOXA1|PAZAR,OREG1656640|N/A|FOXA1|PAZAR,OREG1190569|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.389337;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186435563 rs535030756 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18429;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535030756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1656640|N/A|FOXA1|PAZAR,OREG1598303|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186444698 rs4862543 A C 100 PASS AC=160;AF=0.719249;AN=214;NS=2504;DP=18571;EAS_AF=0.8105;AMR_AF=0.804;AFR_AF=0.5;EUR_AF=0.8449;SAS_AF=0.7321;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.719249;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4862543;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7778;AF_popmax=0.8747;AF_male=0.7714;AF_female=0.7859;AF_raw=0.7769;AF_afr=0.5380;AF_sas=.;AF_amr=0.7933;AF_eas=0.8040;AF_nfe=0.8747;AF_fin=0.9138;AF_asj=0.7586;AF_oth=0.8386;non_topmed_AF_popmax=0.8768;non_neuro_AF_popmax=0.8746;non_cancer_AF_popmax=.;controls_AF_popmax=0.8866;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 0|1 0|0 1|1 1|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 0|1 1|0 1|1 0|1 1|0 1|1 0|1 +4 186446257 rs112661328 G A 100 PASS AC=2;AF=0.00259585;AN=214;NS=2504;DP=18788;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0099;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001114107:exon2:c.C162T:p.G54G,PDLIM3:NM_001257962:exon2:c.C162T:p.G54G,PDLIM3:NM_014476:exon2:c.C162T:p.G54G;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112661328;CLNALLELEID=142371;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0032;AF=0.0076;AF_popmax=0.0098;AF_male=0.0080;AF_female=0.0071;AF_raw=0.0076;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0118;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0078201;Kaviar_AC=1209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.508747;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186446365 rs200836809 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19637;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200836809;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.129e-05;AF=0.0003;AF_popmax=0.0009;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +4 186456617 rs4862545 A G 100 PASS AC=214;AF=0.948283;AN=214;NS=2504;DP=8523;EAS_AF=1;AMR_AF=0.987;AFR_AF=0.8116;EUR_AF=0.999;SAS_AF=1;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PDLIM3;GeneDetail.refGene=NM_014476:c.-29T>C\x3bNM_001257962:c.-29T>C\x3bNM_001257963:c.-29T>C\x3bNM_001114107:c.-29T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.948283;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4862545;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9993;ExAC_nontcga_ALL=0.9866;ExAC_nontcga_AFR=0.8387;ExAC_nontcga_AMR=0.9936;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=0.9964;ExAC_nontcga_SAS=0.9997;AF=0.9537;AF_popmax=0.9998;AF_male=0.9513;AF_female=0.9566;AF_raw=0.9533;AF_afr=0.8355;AF_sas=.;AF_amr=0.9858;AF_eas=0.9994;AF_nfe=0.9998;AF_fin=1;AF_asj=1;AF_oth=0.9926;non_topmed_AF_popmax=0.9999;non_neuro_AF_popmax=0.9998;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0052781;Kaviar_AC=816;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177061|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 218381 rs3214561 T TC 100 PASS AC=20;AF=0.247005;AN=214;NS=2504;DP=11367;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6218;EUR_AF=0.1113;SAS_AF=0.0787;AA=CCCCCC|CCCCCC|CCCCCCC|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=SDHA;GeneDetail.refGene=NM_001294332:c.-90_-89insC\x3bNM_004168:c.-90_-89insC\x3bNM_001330758:c.-90_-89insC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35805262;CLNALLELEID=299304;CLNDN=Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2230;AF_popmax=0.5245;AF_male=0.2260;AF_female=0.2192;AF_raw=0.2234;AF_afr=0.5245;AF_sas=.;AF_amr=0.1813;AF_eas=0.0483;AF_nfe=0.1123;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1327;non_topmed_AF_popmax=0.5248;non_neuro_AF_popmax=0.5247;non_cancer_AF_popmax=.;controls_AF_popmax=0.5295;Kaviar_AF=0.025972;Kaviar_AC=676;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177383|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1479573|N/A|E2F4|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR,OREG1849817|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.808005;ALLELE_END;VINYL_score=3 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 218598 rs2303740 G A 100 PASS AC=100;AF=0.329872;AN=214;NS=2504;DP=7323;EAS_AF=0.2768;AMR_AF=0.3329;AFR_AF=0.09;EUR_AF=0.493;SAS_AF=0.5389;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.329872;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2303740;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3871;AF_popmax=0.4997;AF_male=0.3795;AF_female=0.3966;AF_raw=0.3868;AF_afr=0.1580;AF_sas=.;AF_amr=0.3663;AF_eas=0.2825;AF_nfe=0.4997;AF_fin=0.4835;AF_asj=0.4172;AF_oth=0.4778;non_topmed_AF_popmax=0.4987;non_neuro_AF_popmax=0.4990;non_cancer_AF_popmax=.;controls_AF_popmax=0.4890;Kaviar_AF=0.403489;Kaviar_AC=10502;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000177383|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.862887;ALLELE_END;VINYL_score=3 GT 0|1 1|0 1|1 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 1|1 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|1 0|0 1|1 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|0 0|1 1|0 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|1 0|1 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|0 0|1 1|1 1|1 0|0 1|0 0|0 0|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|0 1|0 0|1 0|1 1|1 0|1 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|1 1|1 +5 223646 rs34635677 A T 100 PASS AC=8;AF=0.0185703;AN=214;NS=2504;DP=19506;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0318;SAS_AF=0.0511;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_001330758:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34635677;CLNALLELEID=226826;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.614;SIFT_converted_rankscore=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_converted_rankscore=0.266;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.46;MutationAssessor_score_rankscore=0.130;MutationAssessor_pred=N;FATHMM_score=-0.6;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=0.2;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.361;VEST3_rankscore=0.422;MetaSVM_score=-1.079;MetaSVM_rankscore=0.076;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_rankscore=0.170;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.589;DANN_score=0.864;DANN_rankscore=0.160;fathmm-MKL_coding_score=0.598;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.596;Eigen-PC-raw=-0.511;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=1.56;GERP++_RS_rankscore=0.223;phyloP100way_vertebrate=2.737;phyloP100way_vertebrate_rankscore=0.468;phyloP20way_mammalian=0.233;phyloP20way_mammalian_rankscore=0.259;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.832;phastCons20way_mammalian_rankscore=0.347;SiPhy_29way_logOdds=8.397;SiPhy_29way_logOdds_rankscore=0.315;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0456;ExAC_nontcga_ALL=0.0346;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0114;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0271;ExAC_nontcga_NFE=0.0436;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0568;AF=0.0298;AF_popmax=0.0453;AF_male=0.0282;AF_female=0.0317;AF_raw=0.0298;AF_afr=0.0080;AF_sas=.;AF_amr=0.0212;AF_eas=0;AF_nfe=0.0453;AF_fin=0.0273;AF_asj=0.0379;AF_oth=0.0386;non_topmed_AF_popmax=0.0436;non_neuro_AF_popmax=0.0461;non_cancer_AF_popmax=.;controls_AF_popmax=0.0397;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927148;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 +5 224418 rs7732389 T G 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=19861;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7732389;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2244;AF_popmax=0.5282;AF_male=0.2280;AF_female=0.2199;AF_raw=0.2249;AF_afr=0.5282;AF_sas=.;AF_amr=0.1816;AF_eas=0.0477;AF_nfe=0.1130;AF_fin=0.0835;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5285;non_neuro_AF_popmax=0.5285;non_cancer_AF_popmax=.;controls_AF_popmax=0.5340;Kaviar_AF=0.0229816;Kaviar_AC=3553;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178967::-0.177576;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224633 rs1139424 A G 100 PASS AC=20;AF=0.240016;AN=214;NS=2504;DP=17131;EAS_AF=0.0585;AMR_AF=0.2334;AFR_AF=0.5998;EUR_AF=0.1103;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon3:c.A309G:p.A103A,SDHA:NM_001330758:exon3:c.A309G:p.A103A,SDHA:NM_004168:exon3:c.A309G:p.A103A;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139424;CLNALLELEID=135727;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1294;ExAC_nontcga_ALL=0.1524;ExAC_nontcga_AFR=0.5295;ExAC_nontcga_AMR=0.1764;ExAC_nontcga_EAS=0.0596;ExAC_nontcga_FIN=0.0906;ExAC_nontcga_NFE=0.1258;ExAC_nontcga_OTH=0.1243;ExAC_nontcga_SAS=0.0893;AF=0.2245;AF_popmax=0.5289;AF_male=0.2277;AF_female=0.2205;AF_raw=0.2248;AF_afr=0.5289;AF_sas=.;AF_amr=0.1816;AF_eas=0.0489;AF_nfe=0.1125;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5291;non_neuro_AF_popmax=0.5305;non_cancer_AF_popmax=.;controls_AF_popmax=0.5363;Kaviar_AF=0.149092;Kaviar_AC=23050;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.433347;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224684 rs201953257 G A 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=15402;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0098;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201953257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0113;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0056;AF=0.0050;AF_popmax=0.0090;AF_male=0.0047;AF_female=0.0054;AF_raw=0.0050;AF_afr=0.0090;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0009;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0086;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 224692 rs7705721 G T 100 PASS AC=20;AF=0.244209;AN=214;NS=2504;DP=15107;EAS_AF=0.0585;AMR_AF=0.2378;AFR_AF=0.6135;EUR_AF=0.1103;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.244209;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7705721;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2243;AF_popmax=0.5284;AF_male=0.2277;AF_female=0.2201;AF_raw=0.2248;AF_afr=0.5284;AF_sas=.;AF_amr=0.1816;AF_eas=0.0487;AF_nfe=0.1128;AF_fin=0.0832;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5287;non_neuro_AF_popmax=0.5293;non_cancer_AF_popmax=.;controls_AF_popmax=0.5354;Kaviar_AF=0.0289065;Kaviar_AC=4469;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225515 rs185555941 G T 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=16113;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185555941;CLNALLELEID=358790;CLNDN=Paragangliomas_5|not_specified;CLNDISDB=MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0019;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0027;AF_popmax=0.0041;AF_male=0.0029;AF_female=0.0025;AF_raw=0.0027;AF_afr=0.0017;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0.0003;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0018564;Kaviar_AC=287;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.769861;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225709 rs35464369 G A 100 PASS AC=1;AF=0.113019;AN=214;NS=2504;DP=17441;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4085;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.113019;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35464369;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0034;ExAC_nontcga_ALL=0.0305;ExAC_nontcga_AFR=0.3372;ExAC_nontcga_AMR=0.0192;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0190;ExAC_nontcga_SAS=0.0007;AF=0.0927;AF_popmax=0.3262;AF_male=0.0953;AF_female=0.0893;AF_raw=0.0929;AF_afr=0.3262;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3266;non_neuro_AF_popmax=0.3284;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0307564;Kaviar_AC=4755;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.985478;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 225941 rs59452511 C T 100 PASS AC=40;AF=0.307907;AN=214;NS=2504;DP=21948;EAS_AF=0.0605;AMR_AF=0.3588;AFR_AF=0.6369;EUR_AF=0.2545;SAS_AF=0.137;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.307907;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59452511;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3353;AF_popmax=0.5593;AF_male=0.3317;AF_female=0.3398;AF_raw=0.3347;AF_afr=0.5593;AF_sas=.;AF_amr=0.2736;AF_eas=0.0489;AF_nfe=0.2578;AF_fin=0.2834;AF_asj=0.2793;AF_oth=0.2831;non_topmed_AF_popmax=0.5593;non_neuro_AF_popmax=0.5636;non_cancer_AF_popmax=.;controls_AF_popmax=0.5654;Kaviar_AF=0.0506656;Kaviar_AC=7833;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.268382::-0.127049;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.806467;ALLELE_END;VINYL_score=2 GT 1|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 +5 226160 rs6555055 A C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=18908;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon4:c.A475C:p.R159R,SDHA:NM_001330758:exon5:c.A619C:p.R207R,SDHA:NM_004168:exon5:c.A619C:p.R207R;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6555055;CLNALLELEID=135728;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.1359;ExAC_nontcga_ALL=0.1566;ExAC_nontcga_AFR=0.5415;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0606;ExAC_nontcga_FIN=0.0917;ExAC_nontcga_NFE=0.1286;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0902;AF=0.2243;AF_popmax=0.5286;AF_male=0.2276;AF_female=0.2202;AF_raw=0.2247;AF_afr=0.5286;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1126;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1335;non_topmed_AF_popmax=0.5290;non_neuro_AF_popmax=0.5300;non_cancer_AF_popmax=.;controls_AF_popmax=0.5360;Kaviar_AF=0.154228;Kaviar_AC=23844;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.261354;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 226222 rs6555056 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=21095;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6555056;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2246;AF_popmax=0.5290;AF_male=0.2279;AF_female=0.2204;AF_raw=0.2248;AF_afr=0.5290;AF_sas=.;AF_amr=0.1816;AF_eas=0.0490;AF_nfe=0.1128;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1335;non_topmed_AF_popmax=0.5294;non_neuro_AF_popmax=0.5302;non_cancer_AF_popmax=.;controls_AF_popmax=0.5359;Kaviar_AF=0.0307435;Kaviar_AC=4753;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 228278 rs570811758;rs3835068 CT C 100 PASS AC=20;AF=0.234625;AN=214;NS=2504;DP=20930;EAS_AF=0.0585;AMR_AF=0.2392;AFR_AF=0.5764;EUR_AF=0.1103;SAS_AF=0.0787;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.234625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835068;CLNALLELEID=251939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1308;ExAC_nontcga_ALL=0.1504;ExAC_nontcga_AFR=0.5091;ExAC_nontcga_AMR=0.1825;ExAC_nontcga_EAS=0.0595;ExAC_nontcga_FIN=0.0917;ExAC_nontcga_NFE=0.1274;ExAC_nontcga_OTH=0.1280;ExAC_nontcga_SAS=0.0899;AF=0.2235;AF_popmax=0.5253;AF_male=0.2268;AF_female=0.2194;AF_raw=0.2237;AF_afr=0.5253;AF_sas=.;AF_amr=0.1829;AF_eas=0.0478;AF_nfe=0.1119;AF_fin=0.0844;AF_asj=0.1560;AF_oth=0.1327;non_topmed_AF_popmax=0.5257;non_neuro_AF_popmax=0.5252;non_cancer_AF_popmax=.;controls_AF_popmax=0.5297;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.209094;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 228362 rs2115272 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=18495;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon5:c.T540C:p.N180N,SDHA:NM_001330758:exon6:c.T684C:p.N228N,SDHA:NM_004168:exon6:c.T684C:p.N228N;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2115272;CLNALLELEID=135729;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1360;ExAC_nontcga_ALL=0.1563;ExAC_nontcga_AFR=0.5401;ExAC_nontcga_AMR=0.1859;ExAC_nontcga_EAS=0.0610;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1282;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0901;AF=0.2246;AF_popmax=0.5283;AF_male=0.2281;AF_female=0.2202;AF_raw=0.2247;AF_afr=0.5283;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1130;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1328;non_topmed_AF_popmax=0.5286;non_neuro_AF_popmax=0.5296;non_cancer_AF_popmax=.;controls_AF_popmax=0.5347;Kaviar_AF=0.152249;Kaviar_AC=23538;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.311559;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 230942 rs202163020 G C 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=16927;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202163020;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.527022;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +5 230943 rs200374231 T C 100 PASS AC=3;AF=0.000998403;AN=214;NS=2504;DP=16597;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200374231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.527022;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +5 230980 rs2288461 A G 100 PASS AC=167;AF=0.858427;AN=214;NS=2504;DP=17480;EAS_AF=0.628;AMR_AF=0.8689;AFR_AF=0.9879;EUR_AF=0.8688;SAS_AF=0.9029;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.858427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288461;CLNALLELEID=251940;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.8817;ExAC_nontcga_ALL=0.8826;ExAC_nontcga_AFR=0.9753;ExAC_nontcga_AMR=0.8946;ExAC_nontcga_EAS=0.6711;ExAC_nontcga_FIN=0.9190;ExAC_nontcga_NFE=0.8853;ExAC_nontcga_OTH=0.8746;ExAC_nontcga_SAS=0.9007;AF=0.9016;AF_popmax=0.9717;AF_male=0.8967;AF_female=0.9077;AF_raw=0.9014;AF_afr=0.9717;AF_sas=.;AF_amr=0.8853;AF_eas=0.6602;AF_nfe=0.8849;AF_fin=0.9203;AF_asj=0.7966;AF_oth=0.9033;non_topmed_AF_popmax=0.9719;non_neuro_AF_popmax=0.9692;non_cancer_AF_popmax=.;controls_AF_popmax=0.9669;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.112167::-0.318647;Heart_Left_Ventricle=Heart_Left_Ventricle::0.103321::-0.363458;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.455746;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 0|0 1|0 1|1 1|0 1|0 1|1 1|1 1|1 +5 231042 rs34771391 C T 100 PASS AC=1;AF=0.00998403;AN=214;NS=2504;DP=18195;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0295;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.C678T:p.G226G,SDHA:NM_001330758:exon7:c.C822T:p.G274G,SDHA:NM_004168:exon7:c.C822T:p.G274G;1000g2015aug_all=0.00998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34771391;CLNALLELEID=226822;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0241;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0090;AF_popmax=0.0255;AF_male=0.0095;AF_female=0.0084;AF_raw=0.0090;AF_afr=0.0255;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0025;AF_fin=0;AF_asj=0.0241;AF_oth=0.0074;non_topmed_AF_popmax=0.0259;non_neuro_AF_popmax=0.0254;non_cancer_AF_popmax=.;controls_AF_popmax=0.0257;Kaviar_AF=0.0045407;Kaviar_AC=702;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.877112;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 231111 rs1126417 T C 100 PASS AC=140;AF=0.653355;AN=214;NS=2504;DP=19860;EAS_AF=0.3363;AMR_AF=0.6902;AFR_AF=0.7874;EUR_AF=0.7475;SAS_AF=0.6759;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_001330758:exon7:c.T891C:p.P297P,SDHA:NM_004168:exon7:c.T891C:p.P297P;1000g2015aug_all=0.653355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1126417;CLNALLELEID=135730;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7582;ExAC_nontcga_ALL=0.7045;ExAC_nontcga_AFR=0.7853;ExAC_nontcga_AMR=0.6446;ExAC_nontcga_EAS=0.3271;ExAC_nontcga_FIN=0.7652;ExAC_nontcga_NFE=0.7582;ExAC_nontcga_OTH=0.6844;ExAC_nontcga_SAS=0.6799;AF=0.7413;AF_popmax=0.7828;AF_male=0.7315;AF_female=0.7535;AF_raw=0.7410;AF_afr=0.7828;AF_sas=.;AF_amr=0.6430;AF_eas=0.3288;AF_nfe=0.7581;AF_fin=0.7663;AF_asj=0.7188;AF_oth=0.7619;non_topmed_AF_popmax=0.7823;non_neuro_AF_popmax=0.7875;non_cancer_AF_popmax=.;controls_AF_popmax=0.7838;Kaviar_AF=0.693354;Kaviar_AC=107194;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.244318::-0.228964;Heart_Left_Ventricle=Heart_Left_Ventricle::0.249077::-0.352509;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.521608;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 0|0 0|1 0|1 0|1 1|1 1|0 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|0 0|1 1|1 1|1 0|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|0 0|1 0|1 1|0 1|0 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|1 +5 231143 rs2288459 T C 100 PASS AC=20;AF=0.247404;AN=214;NS=2504;DP=20847;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2288459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1356;ExAC_nontcga_ALL=0.1555;ExAC_nontcga_AFR=0.5416;ExAC_nontcga_AMR=0.1840;ExAC_nontcga_EAS=0.0602;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.1243;ExAC_nontcga_SAS=0.0903;AF=0.2248;AF_popmax=0.5292;AF_male=0.2283;AF_female=0.2205;AF_raw=0.2248;AF_afr=0.5292;AF_sas=.;AF_amr=0.1816;AF_eas=0.0487;AF_nfe=0.1130;AF_fin=0.0834;AF_asj=0.1586;AF_oth=0.1333;non_topmed_AF_popmax=0.5296;non_neuro_AF_popmax=0.5302;non_cancer_AF_popmax=.;controls_AF_popmax=0.5350;Kaviar_AF=0.152702;Kaviar_AC=23608;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.132462;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233560 rs7725241 G A 100 PASS AC=1;AF=0.114018;AN=214;NS=2504;DP=21202;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4107;EUR_AF=0.004;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.114018;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7725241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0325;ExAC_nontcga_AFR=0.3322;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0023;AF=0.0928;AF_popmax=0.3262;AF_male=0.0955;AF_female=0.0894;AF_raw=0.0929;AF_afr=0.3262;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3268;non_neuro_AF_popmax=0.3293;non_cancer_AF_popmax=.;controls_AF_popmax=0.3310;Kaviar_AF=0.0313515;Kaviar_AC=4847;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233572 rs7710005 A G 100 PASS AC=20;AF=0.247204;AN=214;NS=2504;DP=21404;EAS_AF=0.0595;AMR_AF=0.2392;AFR_AF=0.6225;EUR_AF=0.1113;SAS_AF=0.0787;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247204;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7710005;CLNALLELEID=251941;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1364;ExAC_nontcga_ALL=0.1563;ExAC_nontcga_AFR=0.5385;ExAC_nontcga_AMR=0.1862;ExAC_nontcga_EAS=0.0610;ExAC_nontcga_FIN=0.0916;ExAC_nontcga_NFE=0.1284;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0902;AF=0.2242;AF_popmax=0.5270;AF_male=0.2273;AF_female=0.2204;AF_raw=0.2243;AF_afr=0.5270;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1128;AF_fin=0.0837;AF_asj=0.1586;AF_oth=0.1324;non_topmed_AF_popmax=0.5273;non_neuro_AF_popmax=0.5286;non_cancer_AF_popmax=.;controls_AF_popmax=0.5334;Kaviar_AF=0.153931;Kaviar_AC=23798;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233698 rs144252500 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19022;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.G858A:p.A286A,SDHA:NM_001330758:exon8:c.G1002A:p.A334A,SDHA:NM_004168:exon8:c.G1002A:p.A334A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144252500;CLNALLELEID=247306;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0007;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0012;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.202933;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 233734 rs1041949 C G 100 PASS AC=20;AF=0.257788;AN=214;NS=2504;DP=18679;EAS_AF=0.0585;AMR_AF=0.2478;AFR_AF=0.6589;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C894G:p.S298S,SDHA:NM_001330758:exon8:c.C1038G:p.S346S,SDHA:NM_004168:exon8:c.C1038G:p.S346S;1000g2015aug_all=0.257788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1041949;CLNALLELEID=135720;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1373;ExAC_nontcga_ALL=0.1595;ExAC_nontcga_AFR=0.5709;ExAC_nontcga_AMR=0.1871;ExAC_nontcga_EAS=0.0609;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1290;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.0903;AF=0.2326;AF_popmax=0.5580;AF_male=0.2366;AF_female=0.2276;AF_raw=0.2328;AF_afr=0.5580;AF_sas=.;AF_amr=0.1828;AF_eas=0.0494;AF_nfe=0.1123;AF_fin=0.0835;AF_asj=0.1655;AF_oth=0.1333;non_topmed_AF_popmax=0.5583;non_neuro_AF_popmax=0.5607;non_cancer_AF_popmax=.;controls_AF_popmax=0.5666;Kaviar_AF=0.157113;Kaviar_AC=24290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.183824::-0.16847;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.378984;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235345 rs151170408 C G 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17871;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1007G:p.S336X,SDHA:NM_001330758:exon9:c.C1151G:p.S384X,SDHA:NM_004168:exon9:c.C1151G:p.S384X;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151170408;CLNALLELEID=233457;CLNDN=Hereditary_cancer-predisposing_syndrome;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=12.451;CADD_raw_rankscore=0.983;CADD_phred=39;DANN_score=0.997;DANN_rankscore=0.773;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.711;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.103;Eigen-PC-raw=0.937;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.196;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.920;phyloP20way_mammalian_rankscore=0.431;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.978;phastCons20way_mammalian_rankscore=0.483;SiPhy_29way_logOdds=16.420;SiPhy_29way_logOdds_rankscore=0.835;Interpro_domain=FAD-dependent_oxidoreductase_2,_FAD_binding_domain|FAD/NAD(P)-binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.398012;ALLELE_END;VINYL_score=13 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235364 rs35277230 C T 100 PASS AC=1;AF=0.113618;AN=214;NS=2504;DP=17489;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.4107;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1026T:p.F342F,SDHA:NM_001330758:exon9:c.C1170T:p.F390F,SDHA:NM_004168:exon9:c.C1170T:p.F390F;1000g2015aug_all=0.113618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35277230;CLNALLELEID=135721;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0323;ExAC_nontcga_AFR=0.3323;ExAC_nontcga_AMR=0.0196;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0032;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0007;AF=0.0927;AF_popmax=0.3257;AF_male=0.0957;AF_female=0.0890;AF_raw=0.0929;AF_afr=0.3257;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0021;AF_fin=0;AF_asj=0.0034;AF_oth=0.0138;non_topmed_AF_popmax=0.3261;non_neuro_AF_popmax=0.3281;non_cancer_AF_popmax=.;controls_AF_popmax=0.3302;Kaviar_AF=0.0312415;Kaviar_AC=4830;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0492424::-0.543262;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0514706::-0.527623;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.272564;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 235416 rs201826964 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17730;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.T1078C:p.Y360H,SDHA:NM_001330758:exon9:c.T1222C:p.Y408H,SDHA:NM_004168:exon9:c.T1222C:p.Y408H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201826964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.625;MutationAssessor_score_rankscore=0.941;MutationAssessor_pred=H;FATHMM_score=0.0;FATHMM_converted_rankscore=0.626;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_converted_rankscore=0.790;PROVEAN_pred=D;VEST3_score=0.909;VEST3_rankscore=0.899;MetaSVM_score=0.363;MetaSVM_rankscore=0.885;MetaSVM_pred=D;MetaLR_score=0.556;MetaLR_rankscore=0.838;MetaLR_pred=D;M-CAP_score=0.154;M-CAP_rankscore=0.836;M-CAP_pred=D;REVEL_score=0.665;REVEL_rankscore=0.877;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.036;CADD_raw_rankscore=0.831;CADD_phred=28.0;DANN_score=0.999;DANN_rankscore=0.947;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.646;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.913;Eigen-PC-raw=0.816;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.439;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.12;GERP++_RS_rankscore=0.693;phyloP100way_vertebrate=7.349;phyloP100way_vertebrate_rankscore=0.785;phyloP20way_mammalian=1.049;phyloP20way_mammalian_rankscore=0.752;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=13.168;SiPhy_29way_logOdds_rankscore=0.588;Interpro_domain=FAD-dependent_oxidoreductase_2,_FAD_binding_domain|FAD/NAD(P)-binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain\x3bFAD-dependent_oxidoreductase_2,_FAD_binding_domain|Succinate_dehydrogenase/fumarate_reductase_flavoprotein,_catalytic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.452563;ALLELE_END;VINYL_score=11 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236482 rs545929101 A G 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=20216;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.003;EUR_AF=0.003;SAS_AF=0.001;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545929101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236587 rs150831951 G T 100 PASS AC=3;AF=0.0151757;AN=214;NS=2504;DP=18277;EAS_AF=0;AMR_AF=0.0231;AFR_AF=0.0008;EUR_AF=0.0288;SAS_AF=0.0307;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_001330758:exon10:c.G1305T:p.L435L,SDHA:NM_004168:exon10:c.G1305T:p.L435L;1000g2015aug_all=0.0151757;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35964044;CLNALLELEID=226823;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0195;ExAC_nontcga_AFR=0.0020;ExAC_nontcga_AMR=0.0079;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0364;ExAC_nontcga_NFE=0.0242;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0243;AF=0.0165;AF_popmax=0.0199;AF_male=0.0161;AF_female=0.0171;AF_raw=0.0166;AF_afr=0.0033;AF_sas=.;AF_amr=0.0094;AF_eas=0.0006;AF_nfe=0.0199;AF_fin=0.0388;AF_asj=0.0310;AF_oth=0.0276;non_topmed_AF_popmax=0.0206;non_neuro_AF_popmax=0.0206;non_cancer_AF_popmax=.;controls_AF_popmax=0.0256;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.137033;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236695 rs34779890 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=22340;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.C1269T:p.I423I,SDHA:NM_001330758:exon10:c.C1413T:p.I471I,SDHA:NM_004168:exon10:c.C1413T:p.I471I;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34779890;CLNALLELEID=226825;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0036;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0033;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0015;AF=0.0015;AF_popmax=0.0019;AF_male=0.0019;AF_female=0.0010;AF_raw=0.0015;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0019;AF_fin=0;AF_asj=0.0243;AF_oth=0.0028;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0020;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001934;Kaviar_AC=299;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.192125;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236753 rs10057677 C T 100 PASS AC=20;AF=0.246805;AN=214;NS=2504;DP=19059;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.621;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.246805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10057677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1336;ExAC_nontcga_ALL=0.1519;ExAC_nontcga_AFR=0.5238;ExAC_nontcga_AMR=0.1793;ExAC_nontcga_EAS=0.0606;ExAC_nontcga_FIN=0.0908;ExAC_nontcga_NFE=0.1259;ExAC_nontcga_OTH=0.1257;ExAC_nontcga_SAS=0.0894;AF=0.2207;AF_popmax=0.5220;AF_male=0.2247;AF_female=0.2155;AF_raw=0.2236;AF_afr=0.5220;AF_sas=.;AF_amr=0.1797;AF_eas=0.0488;AF_nfe=0.1111;AF_fin=0.0828;AF_asj=0.1586;AF_oth=0.1310;non_topmed_AF_popmax=0.5225;non_neuro_AF_popmax=0.5208;non_cancer_AF_popmax=.;controls_AF_popmax=0.5280;Kaviar_AF=0.138763;Kaviar_AC=21453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.17658::-0.17645;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 236760 rs10057678 C A 100 PASS AC=22;AF=0.2498;AN=214;NS=2504;DP=18728;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6225;EUR_AF=0.1233;SAS_AF=0.0798;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.2498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10057678;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1403;ExAC_nontcga_ALL=0.1602;ExAC_nontcga_AFR=0.5275;ExAC_nontcga_AMR=0.1864;ExAC_nontcga_EAS=0.0628;ExAC_nontcga_FIN=0.1226;ExAC_nontcga_NFE=0.1356;ExAC_nontcga_OTH=0.1287;ExAC_nontcga_SAS=0.0901;AF=0.2286;AF_popmax=0.5229;AF_male=0.2326;AF_female=0.2236;AF_raw=0.2324;AF_afr=0.5229;AF_sas=.;AF_amr=0.1844;AF_eas=0.0471;AF_nfe=0.1182;AF_fin=0.1171;AF_asj=0.1562;AF_oth=0.1485;non_topmed_AF_popmax=0.5234;non_neuro_AF_popmax=0.5203;non_cancer_AF_popmax=.;controls_AF_popmax=0.5289;Kaviar_AF=0.143219;Kaviar_AC=22142;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.18097::-0.150365;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 240663 rs10037851 A T 100 PASS AC=20;AF=0.247604;AN=214;NS=2504;DP=17151;EAS_AF=0.0595;AMR_AF=0.2406;AFR_AF=0.6233;EUR_AF=0.1113;SAS_AF=0.0787;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10037851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2230;AF_popmax=0.5257;AF_male=0.2265;AF_female=0.2186;AF_raw=0.2246;AF_afr=0.5257;AF_sas=.;AF_amr=0.1816;AF_eas=0.0488;AF_nfe=0.1125;AF_fin=0.0835;AF_asj=0.1586;AF_oth=0.1326;non_topmed_AF_popmax=0.5259;non_neuro_AF_popmax=0.5274;non_cancer_AF_popmax=.;controls_AF_popmax=0.5337;Kaviar_AF=0.0205883;Kaviar_AC=3183;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178967::-0.177608;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251055 rs41304878 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19599;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41304878;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0087;AF_popmax=0.0131;AF_male=0.0070;AF_female=0.0108;AF_raw=0.0087;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0131;AF_fin=0.0127;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0151;non_neuro_AF_popmax=0.0132;non_cancer_AF_popmax=.;controls_AF_popmax=0.0198;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.178484;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251178 rs35502109 G A 100 PASS AC=4;AF=0.00199681;AN=214;NS=2504;DP=18819;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.G1479A:p.K493K,SDHA:NM_004168:exon12:c.G1623A:p.K541K;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35502109;CLNALLELEID=247307;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0010;AF=0.0012;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0012;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.035141;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251207 rs181238392 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18327;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.C1508T:p.T503M,SDHA:NM_004168:exon12:c.C1652T:p.T551M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181238392;CLNALLELEID=395281;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.032;SIFT_converted_rankscore=0.446;SIFT_pred=D;Polyphen2_HDIV_score=0.945;Polyphen2_HDIV_rankscore=0.564;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.707;Polyphen2_HVAR_rankscore=0.525;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.185;MutationAssessor_score_rankscore=0.615;MutationAssessor_pred=M;FATHMM_score=-1.36;FATHMM_converted_rankscore=0.801;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_converted_rankscore=0.277;PROVEAN_pred=N;VEST3_score=0.721;VEST3_rankscore=0.721;MetaSVM_score=0.281;MetaSVM_rankscore=0.872;MetaSVM_pred=D;MetaLR_score=0.573;MetaLR_rankscore=0.846;MetaLR_pred=D;M-CAP_score=0.282;M-CAP_rankscore=0.903;M-CAP_pred=D;REVEL_score=0.598;REVEL_rankscore=0.843;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.930;CADD_raw_rankscore=0.529;CADD_phred=23.5;DANN_score=0.998;DANN_rankscore=0.900;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.303;Eigen-PC-raw=0.198;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=7.201;phyloP100way_vertebrate_rankscore=0.772;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.948;phastCons20way_mammalian_rankscore=0.423;SiPhy_29way_logOdds=13.133;SiPhy_29way_logOdds_rankscore=0.586;Interpro_domain=Fumarate_reductase/succinate_dehydrogenase_flavoprotein-like,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.709e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.958665;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251419 rs10041187 C T 100 PASS AC=20;AF=0.248203;AN=214;NS=2504;DP=21650;EAS_AF=0.0585;AMR_AF=0.2421;AFR_AF=0.6256;EUR_AF=0.1113;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248203;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10041187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.4927;ExAC_nontcga_AMR=0.1652;ExAC_nontcga_EAS=0.0565;ExAC_nontcga_FIN=0.0841;ExAC_nontcga_NFE=0.1198;ExAC_nontcga_OTH=0.1077;ExAC_nontcga_SAS=0.0866;AF=0.2241;AF_popmax=0.5298;AF_male=0.2270;AF_female=0.2204;AF_raw=0.2249;AF_afr=0.5298;AF_sas=.;AF_amr=0.1777;AF_eas=0.0483;AF_nfe=0.1121;AF_fin=0.0832;AF_asj=0.1586;AF_oth=0.1315;non_topmed_AF_popmax=0.5300;non_neuro_AF_popmax=0.5331;non_cancer_AF_popmax=.;controls_AF_popmax=0.5399;Kaviar_AF=0.118194;Kaviar_AC=18273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.297854;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251469 rs10039029 G A 100 PASS AC=20;AF=0.248403;AN=214;NS=2504;DP=21830;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6271;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.G1536A:p.T512T,SDHA:NM_004168:exon13:c.G1680A:p.T560T;1000g2015aug_all=0.248403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1139449;CLNALLELEID=135723;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1522;ExAC_nontcga_AFR=0.5301;ExAC_nontcga_AMR=0.1825;ExAC_nontcga_EAS=0.0595;ExAC_nontcga_FIN=0.0909;ExAC_nontcga_NFE=0.1291;ExAC_nontcga_OTH=0.1258;ExAC_nontcga_SAS=0.0902;AF=0.2240;AF_popmax=0.5294;AF_male=0.2272;AF_female=0.2200;AF_raw=0.2248;AF_afr=0.5294;AF_sas=.;AF_amr=0.1785;AF_eas=0.0489;AF_nfe=0.1123;AF_fin=0.0834;AF_asj=0.1562;AF_oth=0.1303;non_topmed_AF_popmax=0.5298;non_neuro_AF_popmax=0.5319;non_cancer_AF_popmax=.;controls_AF_popmax=0.5392;Kaviar_AF=0.136589;Kaviar_AC=21117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.239810;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251526 rs201454617 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19254;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.C1593T:p.I531I,SDHA:NM_004168:exon13:c.C1737T:p.I579I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201454617;CLNALLELEID=395303;CLNDN=Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.746e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.106e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.421960;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 251541 rs77210621 A G 100 PASS AC=20;AF=0.248403;AN=214;NS=2504;DP=18487;EAS_AF=0.0585;AMR_AF=0.2406;AFR_AF=0.6271;EUR_AF=0.1113;SAS_AF=0.0787;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.A1608G:p.A536A,SDHA:NM_004168:exon13:c.A1752G:p.A584A;1000g2015aug_all=0.248403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13070;CLNALLELEID=135724;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1357;ExAC_nontcga_ALL=0.1556;ExAC_nontcga_AFR=0.5416;ExAC_nontcga_AMR=0.1826;ExAC_nontcga_EAS=0.0605;ExAC_nontcga_FIN=0.0915;ExAC_nontcga_NFE=0.1281;ExAC_nontcga_OTH=0.1246;ExAC_nontcga_SAS=0.0902;AF=0.2250;AF_popmax=0.5301;AF_male=0.2284;AF_female=0.2208;AF_raw=0.2254;AF_afr=0.5301;AF_sas=.;AF_amr=0.1828;AF_eas=0.0488;AF_nfe=0.1128;AF_fin=0.0834;AF_asj=0.1597;AF_oth=0.1338;non_topmed_AF_popmax=0.5303;non_neuro_AF_popmax=0.5320;non_cancer_AF_popmax=.;controls_AF_popmax=0.5386;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.180147::-0.174984;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.431633;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 254442 rs142448063 C T 100 PASS AC=214;AF=0.973442;AN=214;NS=2504;DP=19453;EAS_AF=0.871;AMR_AF=0.9986;AFR_AF=1;EUR_AF=1;SAS_AF=0.998;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.973442;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs387134;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.9962;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=0.8806;ExAC_nontcga_FIN=0.9988;ExAC_nontcga_NFE=0.9997;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9986;AF=0.9927;AF_popmax=1;AF_male=0.9919;AF_female=0.9936;AF_raw=0.9922;AF_afr=0.9990;AF_sas=.;AF_amr=1;AF_eas=0.8626;AF_nfe=0.9998;AF_fin=0.9988;AF_asj=0.9966;AF_oth=0.9981;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.323974;Kaviar_AC=50087;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1196537|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 254636 rs35549341 C T 100 PASS AC=17;AF=0.0355431;AN=214;NS=2504;DP=17978;EAS_AF=0;AMR_AF=0.0605;AFR_AF=0.0038;EUR_AF=0.1193;SAS_AF=0.0112;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0355431;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34504623;CLNALLELEID=251943;CLNDN=Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0593;ExAC_nontcga_AFR=0.0225;ExAC_nontcga_AMR=0.0559;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.1520;ExAC_nontcga_NFE=0.1189;ExAC_nontcga_OTH=0.0976;ExAC_nontcga_SAS=0.0157;AF=0.0842;AF_popmax=0.1168;AF_male=0.0807;AF_female=0.0886;AF_raw=0.0831;AF_afr=0.0216;AF_sas=.;AF_amr=0.0618;AF_eas=0;AF_nfe=0.1168;AF_fin=0.1240;AF_asj=0.0833;AF_oth=0.1136;non_topmed_AF_popmax=0.1190;non_neuro_AF_popmax=0.1169;non_cancer_AF_popmax=.;controls_AF_popmax=0.1198;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1196537|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.090341;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +5 256422 rs200868002 A T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20106;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200868002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.18e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.750638;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 256472 rs6961 G A 100 PASS AC=53;AF=0.335264;AN=214;NS=2504;DP=20293;EAS_AF=0.2312;AMR_AF=0.3127;AFR_AF=0.6437;EUR_AF=0.2286;SAS_AF=0.1513;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001330758:exon13:c.G1689A:p.V563V,SDHA:NM_001294332:exon14:c.G1788A:p.V596V,SDHA:NM_004168:exon15:c.G1932A:p.V644V;1000g2015aug_all=0.335264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6961;CLNALLELEID=135725;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1436;ExAC_nontcga_ALL=0.1717;ExAC_nontcga_AFR=0.5550;ExAC_nontcga_AMR=0.2067;ExAC_nontcga_EAS=0.0845;ExAC_nontcga_FIN=0.1133;ExAC_nontcga_NFE=0.1420;ExAC_nontcga_OTH=0.1364;ExAC_nontcga_SAS=0.0982;AF=0.2404;AF_popmax=0.5422;AF_male=0.2434;AF_female=0.2367;AF_raw=0.2370;AF_afr=0.5422;AF_sas=.;AF_amr=0.1987;AF_eas=0.0557;AF_nfe=0.1223;AF_fin=0.0924;AF_asj=0.1729;AF_oth=0.1451;non_topmed_AF_popmax=0.5426;non_neuro_AF_popmax=0.5457;non_cancer_AF_popmax=.;controls_AF_popmax=0.5497;Kaviar_AF=0.166518;Kaviar_AC=25744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.194882::-0.170548;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.240301;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 1|0 +5 256509 rs6962 G A 100 PASS AC=19;AF=0.175319;AN=214;NS=2504;DP=20065;EAS_AF=0.0585;AMR_AF=0.2046;AFR_AF=0.3744;EUR_AF=0.1064;SAS_AF=0.0767;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001330758:exon13:c.G1726A:p.V576I,SDHA:NM_001294332:exon14:c.G1825A:p.V609I,SDHA:NM_004168:exon15:c.G1969A:p.V657I;1000g2015aug_all=0.175319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6962;CLNALLELEID=135726;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.391;Polyphen2_HDIV_rankscore=0.328;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_rankscore=0.309;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=P;MutationAssessor_score=1.13;MutationAssessor_score_rankscore=0.290;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-0.45;PROVEAN_converted_rankscore=0.160;PROVEAN_pred=N;VEST3_score=0.174;VEST3_rankscore=0.211;MetaSVM_score=-1.065;MetaSVM_rankscore=0.104;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.194;REVEL_rankscore=0.479;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.913;CADD_raw_rankscore=0.181;CADD_phred=10.15;DANN_score=0.719;DANN_rankscore=0.095;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.512;Eigen-PC-raw=-0.458;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.12;GERP++_RS_rankscore=0.473;phyloP100way_vertebrate=4.703;phyloP100way_vertebrate_rankscore=0.613;phyloP20way_mammalian=0.893;phyloP20way_mammalian_rankscore=0.410;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.257;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=13.859;SiPhy_29way_logOdds_rankscore=0.629;Interpro_domain=Fumarate_reductase/succinate_dehydrogenase_flavoprotein-like,_C-terminal;GTEx_V6p_gene=ENSG00000073578.12|ENSG00000073578.12|ENSG00000249915.3|ENSG00000250848.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000164366.3|ENSG00000073578.12|ENSG00000248925.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000250848.1|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000249915.3|ENSG00000250848.1|ENSG00000164366.3|ENSG00000073578.12;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1299;ExAC_nontcga_ALL=0.1294;ExAC_nontcga_AFR=0.3090;ExAC_nontcga_AMR=0.1611;ExAC_nontcga_EAS=0.0598;ExAC_nontcga_FIN=0.0897;ExAC_nontcga_NFE=0.1213;ExAC_nontcga_OTH=0.1095;ExAC_nontcga_SAS=0.0863;AF=0.1613;AF_popmax=0.3153;AF_male=0.1627;AF_female=0.1596;AF_raw=0.1629;AF_afr=0.3153;AF_sas=.;AF_amr=0.1537;AF_eas=0.0477;AF_nfe=0.1079;AF_fin=0.0824;AF_asj=0.1552;AF_oth=0.1149;non_topmed_AF_popmax=0.3152;non_neuro_AF_popmax=0.3176;non_cancer_AF_popmax=.;controls_AF_popmax=0.3180;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.154982::-0.164463;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.946319;ALLELE_END;VINYL_score=3.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37294473 rs1045908 T C 100 PASS AC=68;AF=0.277157;AN=214;NS=2504;DP=15068;EAS_AF=0.3829;AMR_AF=0.3156;AFR_AF=0.112;EUR_AF=0.2972;SAS_AF=0.3436;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L;1000g2015aug_all=0.277157;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1045908;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2929;ExAC_nontcga_ALL=0.3095;ExAC_nontcga_AFR=0.1424;ExAC_nontcga_AMR=0.3168;ExAC_nontcga_EAS=0.3947;ExAC_nontcga_FIN=0.2355;ExAC_nontcga_NFE=0.3083;ExAC_nontcga_OTH=0.3051;ExAC_nontcga_SAS=0.3836;AF=0.2408;AF_popmax=0.3808;AF_male=0.2417;AF_female=0.2398;AF_raw=0.2411;AF_afr=0.1283;AF_sas=.;AF_amr=0.2837;AF_eas=0.3808;AF_nfe=0.2890;AF_fin=0.2240;AF_asj=0.3621;AF_oth=0.2472;non_topmed_AF_popmax=0.3818;non_neuro_AF_popmax=0.3808;non_cancer_AF_popmax=.;controls_AF_popmax=0.3958;Kaviar_AF=0.28281;Kaviar_AC=43723;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.288645;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37298896 rs550906640 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20723;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550906640;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=0;AF_female=7.183e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.019e-05;non_neuro_AF_popmax=7.344e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37307389 rs74646699 T C 100 PASS AC=5;AF=0.0589058;AN=214;NS=2504;DP=21030;EAS_AF=0.0298;AMR_AF=0.0274;AFR_AF=0.0802;EUR_AF=0.0477;SAS_AF=0.0941;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0589058;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74646699;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0406;ExAC_nontcga_ALL=0.0503;ExAC_nontcga_AFR=0.0688;ExAC_nontcga_AMR=0.0214;ExAC_nontcga_EAS=0.0366;ExAC_nontcga_FIN=0.0652;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0519;ExAC_nontcga_SAS=0.0875;AF=0.0550;AF_popmax=0.0703;AF_male=0.0527;AF_female=0.0578;AF_raw=0.0550;AF_afr=0.0703;AF_sas=.;AF_amr=0.0264;AF_eas=0.0470;AF_nfe=0.0492;AF_fin=0.0582;AF_asj=0.0276;AF_oth=0.0432;non_topmed_AF_popmax=0.0707;non_neuro_AF_popmax=0.0692;non_cancer_AF_popmax=.;controls_AF_popmax=0.0696;Kaviar_AF=0.0483823;Kaviar_AC=7480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.994926;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +5 37309371 rs3835198 TAGA T 100 PASS AC=67;AF=0.269169;AN=214;NS=2504;DP=19452;EAS_AF=0.3631;AMR_AF=0.3141;AFR_AF=0.112;EUR_AF=0.2952;SAS_AF=0.3262;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.269169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3835198;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2911;ExAC_nontcga_ALL=0.3002;ExAC_nontcga_AFR=0.1306;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.3763;ExAC_nontcga_FIN=0.2337;ExAC_nontcga_NFE=0.3048;ExAC_nontcga_OTH=0.2940;ExAC_nontcga_SAS=0.3676;AF=0.2381;AF_popmax=0.3618;AF_male=0.2389;AF_female=0.2370;AF_raw=0.2390;AF_afr=0.1267;AF_sas=.;AF_amr=0.2849;AF_eas=0.3618;AF_nfe=0.2863;AF_fin=0.2242;AF_asj=0.3611;AF_oth=0.2449;non_topmed_AF_popmax=0.3630;non_neuro_AF_popmax=0.3618;non_cancer_AF_popmax=.;controls_AF_popmax=0.3709;Kaviar_AF=0.0083375;Kaviar_AC=1289;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.956893;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 0|0 0|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 1|0 1|1 1|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|1 0|1 0|0 0|0 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37314287 rs532763881 T TA 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14412;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=|||unknown(STR2?);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532763881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0013;ExAC_nontcga_NFE=0.0028;ExAC_nontcga_OTH=0.0035;ExAC_nontcga_SAS=0.0004;AF=0.0016;AF_popmax=0.0023;AF_male=0.0014;AF_female=0.0018;AF_raw=0.0016;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0012;AF_asj=0.0035;AF_oth=0.0009;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0022;non_cancer_AF_popmax=.;controls_AF_popmax=0.0028;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37318029 rs564211762 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19202;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564211762;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=6.371e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=7.186e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.791170;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37325919 rs75776178 A C 100 PASS AC=5;AF=0.0423323;AN=214;NS=2504;DP=14883;EAS_AF=0.0288;AMR_AF=0.0187;AFR_AF=0.0227;EUR_AF=0.0477;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0423323;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75776178;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0404;AF_popmax=0.0477;AF_male=0.0375;AF_female=0.0441;AF_raw=0.0419;AF_afr=0.0248;AF_sas=.;AF_amr=0.0203;AF_eas=0.0456;AF_nfe=0.0477;AF_fin=0.0521;AF_asj=0.0276;AF_oth=0.0383;non_topmed_AF_popmax=0.0504;non_neuro_AF_popmax=0.0475;non_cancer_AF_popmax=.;controls_AF_popmax=0.0545;Kaviar_AF=0.0080788;Kaviar_AC=1249;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +5 37325940 rs79019688 T C 100 PASS AC=26;AF=0.147963;AN=214;NS=2504;DP=15568;EAS_AF=0.123;AMR_AF=0.1614;AFR_AF=0.112;EUR_AF=0.1461;SAS_AF=0.2147;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147963;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79019688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1479;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1534;AF_popmax=0.1929;AF_male=0.1516;AF_female=0.1557;AF_raw=0.1526;AF_afr=0.1167;AF_sas=.;AF_amr=0.1929;AF_eas=0.1248;AF_nfe=0.1649;AF_fin=0.1952;AF_asj=0.1759;AF_oth=0.1638;non_topmed_AF_popmax=0.1933;non_neuro_AF_popmax=0.1898;non_cancer_AF_popmax=.;controls_AF_popmax=0.2281;Kaviar_AF=0.0292881;Kaviar_AC=4528;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37327832 rs201172703 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17954;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon18:c.C1923T:p.N641N,NUP155:NM_004298:exon18:c.C1746T:p.N582N,NUP155:NM_153485:exon18:c.C1923T:p.N641N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201172703;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.42e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.738026;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37328643 rs187454429 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18225;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187454429;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0012;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0021;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37331795 rs75255795 A G 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15080;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon14:c.T1621C:p.L541L,NUP155:NM_004298:exon14:c.T1444C:p.L482L,NUP155:NM_153485:exon14:c.T1621C:p.L541L;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75255795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0040;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0070;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0010;AF=0.0033;AF_popmax=0.0059;AF_male=0.0034;AF_female=0.0032;AF_raw=0.0033;AF_afr=0.0010;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0051;AF_fin=0.0017;AF_asj=0.0138;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.333359;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37333727 rs150594 A G 100 PASS AC=29;AF=0.355032;AN=214;NS=2504;DP=16393;EAS_AF=0.123;AMR_AF=0.2219;AFR_AF=0.854;EUR_AF=0.1531;SAS_AF=0.2219;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A;1000g2015aug_all=0.355032;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150594;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1599;ExAC_nontcga_ALL=0.2359;ExAC_nontcga_AFR=0.7710;ExAC_nontcga_AMR=0.2338;ExAC_nontcga_EAS=0.1193;ExAC_nontcga_FIN=0.2121;ExAC_nontcga_NFE=0.1698;ExAC_nontcga_OTH=0.2126;ExAC_nontcga_SAS=0.2200;AF=0.3361;AF_popmax=0.7597;AF_male=0.3394;AF_female=0.3319;AF_raw=0.3362;AF_afr=0.7597;AF_sas=.;AF_amr=0.2363;AF_eas=0.1236;AF_nfe=0.1689;AF_fin=0.1910;AF_asj=0.1793;AF_oth=0.2066;non_topmed_AF_popmax=0.7600;non_neuro_AF_popmax=0.7619;non_cancer_AF_popmax=.;controls_AF_popmax=0.7645;Kaviar_AF=0.221685;Kaviar_AC=34273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000272|hsa-miR-215-5p|Experimental,MIMAT0003393|hsa-miR-425-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118516;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37337942 rs200787798 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14594;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon12:c.A1325G:p.Q442R,NUP155:NM_004298:exon12:c.A1148G:p.Q383R,NUP155:NM_153485:exon12:c.A1325G:p.Q442R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200787798;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.501;SIFT_converted_rankscore=0.259;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.214;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.269;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=D;MutationAssessor_score=1.275;MutationAssessor_score_rankscore=0.323;MutationAssessor_pred=L;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST3_score=0.492;VEST3_rankscore=0.551;MetaSVM_score=-1.066;MetaSVM_rankscore=0.104;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_rankscore=0.328;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.235;M-CAP_pred=T;REVEL_score=0.133;REVEL_rankscore=0.367;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.170;CADD_raw_rankscore=0.322;CADD_phred=17.31;DANN_score=0.991;DANN_rankscore=0.519;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.708;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.082;Eigen-PC-raw=0.113;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=7.026;phyloP100way_vertebrate_rankscore=0.760;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.819;SiPhy_29way_logOdds_rankscore=0.696;Interpro_domain=Nucleoporin,_Nup133/Nup155-like,_N-terminal\x3bNucleoporin,_Nup133/Nup155-like,_N-terminal|WD40/YVTN_repeat-like-containing_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.433e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000256|hsa-miR-181a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.711293;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37341352 rs13172306 T C 100 PASS AC=50;AF=0.188698;AN=214;NS=2504;DP=17029;EAS_AF=0.2976;AMR_AF=0.2104;AFR_AF=0.0431;EUR_AF=0.2296;SAS_AF=0.2157;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.188698;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13172306;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.2115;ExAC_nontcga_ALL=0.2075;ExAC_nontcga_AFR=0.0554;ExAC_nontcga_AMR=0.2018;ExAC_nontcga_EAS=0.3172;ExAC_nontcga_FIN=0.2004;ExAC_nontcga_NFE=0.2127;ExAC_nontcga_OTH=0.2262;ExAC_nontcga_SAS=0.2279;AF=0.1720;AF_popmax=0.3148;AF_male=0.1719;AF_female=0.1721;AF_raw=0.1723;AF_afr=0.0563;AF_sas=.;AF_amr=0.2075;AF_eas=0.3148;AF_nfe=0.2135;AF_fin=0.1920;AF_asj=0.2483;AF_oth=0.1961;non_topmed_AF_popmax=0.3155;non_neuro_AF_popmax=0.3148;non_cancer_AF_popmax=.;controls_AF_popmax=0.3220;Kaviar_AF=0.203574;Kaviar_AC=31473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.829204;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 1|0 1|0 1|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 37350390 rs217776 C A 100 PASS AC=28;AF=0.33766;AN=214;NS=2504;DP=17328;EAS_AF=0.123;AMR_AF=0.219;AFR_AF=0.7912;EUR_AF=0.1511;SAS_AF=0.2219;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.33766;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217776;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1597;ExAC_nontcga_ALL=0.2273;ExAC_nontcga_AFR=0.7210;ExAC_nontcga_AMR=0.2287;ExAC_nontcga_EAS=0.1196;ExAC_nontcga_FIN=0.2104;ExAC_nontcga_NFE=0.1654;ExAC_nontcga_OTH=0.2035;ExAC_nontcga_SAS=0.2158;AF=0.3246;AF_popmax=0.7168;AF_male=0.3278;AF_female=0.3206;AF_raw=0.3240;AF_afr=0.7168;AF_sas=.;AF_amr=0.2317;AF_eas=0.1237;AF_nfe=0.1692;AF_fin=0.1918;AF_asj=0.1759;AF_oth=0.2072;non_topmed_AF_popmax=0.7173;non_neuro_AF_popmax=0.7174;non_cancer_AF_popmax=.;controls_AF_popmax=0.7190;Kaviar_AF=0.215948;Kaviar_AC=33386;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +5 37351270 rs72736781 C A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16340;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72736781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0049;AF=0.0014;AF_popmax=0.0023;AF_male=0.0016;AF_female=0.0012;AF_raw=0.0014;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0006;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0026;Kaviar_AF=0.00163;Kaviar_AC=252;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37352816 rs115828387 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18625;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs115828387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0006;AF_popmax=0.0017;AF_male=0.0005;AF_female=0.0007;AF_raw=0.0006;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37352829 rs77520181 G A 100 PASS AC=2;AF=0.0656949;AN=214;NS=2504;DP=18669;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.2254;EUR_AF=0.005;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0656949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77520181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0234;ExAC_nontcga_AFR=0.2191;ExAC_nontcga_AMR=0.0115;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0038;ExAC_nontcga_OTH=0.0148;ExAC_nontcga_SAS=0.0089;AF=0.0616;AF_popmax=0.2135;AF_male=0.0640;AF_female=0.0587;AF_raw=0.0619;AF_afr=0.2135;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0032;AF_fin=0;AF_asj=0;AF_oth=0.0156;non_topmed_AF_popmax=0.2138;non_neuro_AF_popmax=0.2117;non_cancer_AF_popmax=.;controls_AF_popmax=0.2051;Kaviar_AF=0.021882;Kaviar_AC=3383;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37364133 rs111523309 CTTT C 100 PASS AC=1;AF=0.0169728;AN=214;NS=2504;DP=19053;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.062;EUR_AF=0.001;SAS_AF=0;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111523309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0046;ExAC_nontcga_AFR=0.0479;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=6.135e-05;AF=0.0122;AF_popmax=0.0428;AF_male=0.0121;AF_female=0.0122;AF_raw=0.0122;AF_afr=0.0428;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0035;AF_oth=0.0018;non_topmed_AF_popmax=0.0426;non_neuro_AF_popmax=0.0452;non_cancer_AF_popmax=.;controls_AF_popmax=0.0459;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 37364443 rs217852 C T 100 PASS AC=214;AF=0.969649;AN=214;NS=2504;DP=15064;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.8873;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9905;ExAC_nontcga_AFR=0.8949;ExAC_nontcga_AMR=0.9953;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9713;AF_popmax=1;AF_male=0.9706;AF_female=0.9721;AF_raw=0.9712;AF_afr=0.8992;AF_sas=.;AF_amr=0.9870;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9889;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426196;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;1000g2015aug_all=0.969649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs217852;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9999;ExAC_nontcga_ALL=0.9905;ExAC_nontcga_AFR=0.8949;ExAC_nontcga_AMR=0.9953;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1.0000;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9999;AF=0.9713;AF_popmax=1;AF_male=0.9706;AF_female=0.9721;AF_raw=0.9712;AF_afr=0.8992;AF_sas=.;AF_amr=0.9870;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9889;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426196;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +5 37371059 rs61756070 G A 100 PASS AC=4;AF=0.0071885;AN=214;NS=2504;DP=13730;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0266;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon1:c.C21T:p.G7G,NUP155:NM_153485:exon1:c.C21T:p.G7G;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61756070;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0225;AF=0.0072;AF_popmax=0.0100;AF_male=0.0076;AF_female=0.0067;AF_raw=0.0072;AF_afr=0.0020;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0101;AF_asj=0.0276;AF_oth=0.0074;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0118;Kaviar_AF=0.0087903;Kaviar_AC=1359;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000179619|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1898549|N/A|STAT1|PAZAR,OREG1236977|N/A|SMARCA4|PAZAR,OREG1786159|N/A|RBL2|PAZAR,OREG1792151|N/A|RBL2|PAZAR,OREG1841146|N/A|RB1|PAZAR,OREG1862360|N/A|SPI1|PAZAR,OREG1821245|N/A|RBL2|PAZAR,OREG1805811|N/A|RBL2|PAZAR,OREG1551289|N/A|ETS1|PAZAR,OREG1851033|N/A|RB1|PAZAR,OREG1846798|N/A|RB1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.249928;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155756623 rs191373760 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16909;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191373760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0015;AF_popmax=0.0025;AF_male=0.0015;AF_female=0.0015;AF_raw=0.0016;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0025;AF_fin=0.0006;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0003493;Kaviar_AC=54;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155771458 rs200386436 G T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=18149;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200386436;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0068;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0006;AF=0.0072;AF_popmax=0.0106;AF_male=0.0076;AF_female=0.0068;AF_raw=0.0072;AF_afr=0.0029;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0106;AF_fin=0.0066;AF_asj=0.0379;AF_oth=0.0037;non_topmed_AF_popmax=0.0100;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0098;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.400906;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 155771579 rs1801193 T C 100 PASS AC=100;AF=0.485423;AN=214;NS=2504;DP=16931;EAS_AF=0.7937;AMR_AF=0.464;AFR_AF=0.2436;EUR_AF=0.4473;SAS_AF=0.5491;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.T81C:p.Y27Y,SGCD:NM_000337:exon3:c.T84C:p.Y28Y,SGCD:NM_172244:exon3:c.T84C:p.Y28Y;1000g2015aug_all=0.485423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801193;CLNALLELEID=57289;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4316;ExAC_nontcga_ALL=0.4699;ExAC_nontcga_AFR=0.2703;ExAC_nontcga_AMR=0.4423;ExAC_nontcga_EAS=0.7856;ExAC_nontcga_FIN=0.4539;ExAC_nontcga_NFE=0.4358;ExAC_nontcga_OTH=0.5101;ExAC_nontcga_SAS=0.5583;AF=0.4075;AF_popmax=0.7889;AF_male=0.4102;AF_female=0.4040;AF_raw=0.4076;AF_afr=0.2650;AF_sas=.;AF_amr=0.4645;AF_eas=0.7889;AF_nfe=0.4324;AF_fin=0.4485;AF_asj=0.5345;AF_oth=0.4388;non_topmed_AF_popmax=0.7883;non_neuro_AF_popmax=0.7889;non_cancer_AF_popmax=.;controls_AF_popmax=0.7856;Kaviar_AF=0.453118;Kaviar_AC=70053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.799992;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|0 0|1 0|1 1|0 1|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 0|1 1|0 0|0 1|0 1|1 1|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 0|1 0|0 1|1 1|1 1|1 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 0|1 0|1 0|1 1|0 0|0 0|1 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|1 1|0 1|0 0|0 1|1 1|0 0|0 0|1 1|1 1|0 1|1 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 +5 155935708 rs45559835 G A 100 PASS AC=9;AF=0.0189696;AN=214;NS=2504;DP=17897;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.003;EUR_AF=0.0517;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon3:c.G287A:p.R96Q,SGCD:NM_000337:exon4:c.G290A:p.R97Q,SGCD:NM_172244:exon4:c.G290A:p.R97Q;1000g2015aug_all=0.0189696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45559835;CLNALLELEID=57281;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.826;Polyphen2_HDIV_rankscore=0.561;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.105;Polyphen2_HVAR_rankscore=0.396;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.429;MutationTaster_pred=D;MutationAssessor_score=1.83;MutationAssessor_score_rankscore=0.482;MutationAssessor_pred=L;FATHMM_score=-3.77;FATHMM_converted_rankscore=0.956;FATHMM_pred=D;PROVEAN_score=-3.23;PROVEAN_converted_rankscore=0.650;PROVEAN_pred=D;VEST3_score=0.223;VEST3_rankscore=0.274;MetaSVM_score=-0.123;MetaSVM_rankscore=0.796;MetaSVM_pred=T;MetaLR_score=0.337;MetaLR_rankscore=0.704;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.422;REVEL_rankscore=0.734;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.006;CADD_raw_rankscore=0.937;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_rankscore=0.525;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.414;Eigen-PC-raw=0.480;GenoCanyon_score=0.961;GenoCanyon_score_rankscore=0.285;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=4.201;phyloP100way_vertebrate_rankscore=0.580;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.283;SiPhy_29way_logOdds_rankscore=0.539;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0642;ExAC_nontcga_ALL=0.0439;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.0314;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0442;ExAC_nontcga_NFE=0.0641;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0224;AF=0.0393;AF_popmax=0.0577;AF_male=0.0395;AF_female=0.0390;AF_raw=0.0392;AF_afr=0.0105;AF_sas=.;AF_amr=0.0271;AF_eas=0.0006;AF_nfe=0.0577;AF_fin=0.0455;AF_asj=0.0828;AF_oth=0.0414;non_topmed_AF_popmax=0.0550;non_neuro_AF_popmax=0.0573;non_cancer_AF_popmax=.;controls_AF_popmax=0.0504;Kaviar_AF=0.0441327;Kaviar_AC=6823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.317093;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +5 155935720 rs11748588 T C 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=18183;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11748588;CLNALLELEID=45433;CLNDN=Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.0091;ExAC_nontcga_ALL=0.0067;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0192;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0027;AF=0.0078;AF_popmax=0.0106;AF_male=0.0080;AF_female=0.0075;AF_raw=0.0078;AF_afr=0.0016;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0210;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.006216;Kaviar_AC=961;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569232;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 156022101 rs200525080 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=21401;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200525080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0039;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 156074654 rs141437738 TAAATTGA T 100 PASS AC=186;AF=0.89996;AN=214;NS=2504;DP=18386;EAS_AF=0.9871;AMR_AF=0.9164;AFR_AF=0.8578;EUR_AF=0.8678;SAS_AF=0.8885;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.89996;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141437738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8864;AF_popmax=0.9865;AF_male=0.8866;AF_female=0.8862;AF_raw=0.8860;AF_afr=0.8576;AF_sas=.;AF_amr=0.9222;AF_eas=0.9865;AF_nfe=0.8855;AF_fin=0.9107;AF_asj=0.9;AF_oth=0.8762;non_topmed_AF_popmax=0.9861;non_neuro_AF_popmax=0.9865;non_cancer_AF_popmax=.;controls_AF_popmax=0.9857;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000774931|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1656508|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 +5 172659511 rs703752 C A 100 PASS AC=71;AF=0.255591;AN=214;NS=2504;DP=15647;EAS_AF=0.0724;AMR_AF=0.2594;AFR_AF=0.2511;EUR_AF=0.34;SAS_AF=0.3609;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=NKX2-5;GeneDetail.refGene=NM_001166175:c.*989G>T\x3bNM_004387:c.*61G>T\x3bNM_001166176:c.*835G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.255591;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs703752;CLNALLELEID=207169;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3087;AF_popmax=0.3627;AF_male=0.3036;AF_female=0.3151;AF_raw=0.3087;AF_afr=0.2758;AF_sas=.;AF_amr=0.2476;AF_eas=0.0443;AF_nfe=0.3627;AF_fin=0.2809;AF_asj=0.3276;AF_oth=0.3173;non_topmed_AF_popmax=0.3618;non_neuro_AF_popmax=0.3624;non_cancer_AF_popmax=.;controls_AF_popmax=0.3542;Kaviar_AF=0.0632786;Kaviar_AC=9783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.326052;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|0 1|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 1|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|1 0|0 0|1 0|0 1|1 +5 172660004 rs72554028 C T 100 PASS AC=4;AF=0.00479233;AN=214;NS=2504;DP=14603;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.0092;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_004387:exon2:c.G543A:p.Q181Q;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72554028;CLNALLELEID=45320;CLNDN=Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0077;ExAC_nontcga_ALL=0.0091;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0100;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0103;ExAC_nontcga_OTH=0.0104;ExAC_nontcga_SAS=0.0137;AF=0.0043;AF_popmax=0.0083;AF_male=0.0040;AF_female=0.0047;AF_raw=0.0043;AF_afr=0.0008;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0026;AF_asj=0.0310;AF_oth=0.0092;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0067722;Kaviar_AC=1047;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.955476;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 +5 172660099 rs201582515 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15588;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_004387:exon2:c.G448A:p.V150I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201582515;CLNALLELEID=509759;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.725;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_rankscore=0.545;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.473;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.165;MutationAssessor_score_rankscore=0.090;MutationAssessor_pred=N;FATHMM_score=-3.79;FATHMM_converted_rankscore=0.957;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.8;VEST3_rankscore=0.789;MetaSVM_score=0.798;MetaSVM_rankscore=0.944;MetaSVM_pred=D;MetaLR_score=0.818;MetaLR_rankscore=0.939;MetaLR_pred=D;M-CAP_score=0.128;M-CAP_rankscore=0.810;M-CAP_pred=D;REVEL_score=0.729;REVEL_rankscore=0.906;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.295;CADD_raw_rankscore=0.869;CADD_phred=29.1;DANN_score=0.999;DANN_rankscore=0.943;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.736;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.306;Eigen-PC-raw=0.358;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=4.1;GERP++_RS_rankscore=0.470;phyloP100way_vertebrate=6.143;phyloP100way_vertebrate_rankscore=0.713;phyloP20way_mammalian=0.928;phyloP20way_mammalian_rankscore=0.438;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.868;SiPhy_29way_logOdds_rankscore=0.858;Interpro_domain=Homeobox_domain|Homeobox_domain-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497667|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.954493;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172660523 rs3095871 T A 100 PASS AC=98;AF=0.610623;AN=214;NS=2504;DP=13884;EAS_AF=0.2768;AMR_AF=0.4712;AFR_AF=0.9508;EUR_AF=0.5229;SAS_AF=0.684;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3095871;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4707;ExAC_nontcga_AFR=0.5286;ExAC_nontcga_AMR=0.4255;ExAC_nontcga_EAS=0.2778;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3978;ExAC_nontcga_OTH=0.4615;ExAC_nontcga_SAS=0.4960;AF=0.3964;AF_popmax=0.6313;AF_male=0.3939;AF_female=0.3998;AF_raw=0.3768;AF_afr=0.6313;AF_sas=.;AF_amr=0.2593;AF_eas=0.1305;AF_nfe=0.2944;AF_fin=0.3166;AF_asj=0.2107;AF_oth=0.3213;non_topmed_AF_popmax=0.6311;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6337;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.610623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3095871;CLNALLELEID=142226;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4707;ExAC_nontcga_AFR=0.5286;ExAC_nontcga_AMR=0.4255;ExAC_nontcga_EAS=0.2778;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3978;ExAC_nontcga_OTH=0.4615;ExAC_nontcga_SAS=0.4960;AF=0.3964;AF_popmax=0.6313;AF_male=0.3939;AF_female=0.3998;AF_raw=0.3768;AF_afr=0.6313;AF_sas=.;AF_amr=0.2593;AF_eas=0.1305;AF_nfe=0.2944;AF_fin=0.3166;AF_asj=0.2107;AF_oth=0.3213;non_topmed_AF_popmax=0.6311;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6337;Kaviar_AF=0.0002393;Kaviar_AC=37;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|1 0|0 0|1 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 1|0 0|1 1|1 1|0 0|1 0|0 1|1 1|0 0|0 0|1 1|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 1|0 +5 172660527 rs55880439 T A 100 PASS AC=85;AF=0.403355;AN=214;NS=2504;DP=14076;EAS_AF=0.5496;AMR_AF=0.5461;AFR_AF=0.2035;EUR_AF=0.3956;SAS_AF=0.4294;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55880439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4457;ExAC_nontcga_AFR=0.2062;ExAC_nontcga_AMR=0.4362;ExAC_nontcga_EAS=0.4697;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3689;ExAC_nontcga_OTH=0.43;ExAC_nontcga_SAS=0.4805;AF=0.3705;AF_popmax=0.5706;AF_male=0.3662;AF_female=0.3762;AF_raw=0.3393;AF_afr=0.2262;AF_sas=.;AF_amr=0.53;AF_eas=0.5706;AF_nfe=0.4262;AF_fin=0.2608;AF_asj=0.2874;AF_oth=0.3772;non_topmed_AF_popmax=0.5682;non_neuro_AF_popmax=0.5706;non_cancer_AF_popmax=.;controls_AF_popmax=0.5831;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55880439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4457;ExAC_nontcga_AFR=0.2062;ExAC_nontcga_AMR=0.4362;ExAC_nontcga_EAS=0.4697;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3689;ExAC_nontcga_OTH=0.43;ExAC_nontcga_SAS=0.4805;AF=0.3705;AF_popmax=0.5706;AF_male=0.3662;AF_female=0.3762;AF_raw=0.3393;AF_afr=0.2262;AF_sas=.;AF_amr=0.53;AF_eas=0.5706;AF_nfe=0.4262;AF_fin=0.2608;AF_asj=0.2874;AF_oth=0.3772;non_topmed_AF_popmax=0.5682;non_neuro_AF_popmax=0.5706;non_cancer_AF_popmax=.;controls_AF_popmax=0.5831;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 1|1 0|0 0|0 0|0 1|1 1|0 0|1 0|1 0|1 0|1 0|0 1|1 1|0 0|1 0|1 1|1 0|0 1|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 0|1 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|1 0|0 1|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|1 0|1 1|1 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 1|1 0|0 0|1 0|0 1|0 +5 172661690 rs72554031 C T 100 PASS AC=1;AF=0.00519169;AN=214;NS=2504;DP=14301;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72554031;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0141;AF_popmax=0.0178;AF_male=0.0147;AF_female=0.0135;AF_raw=0.0142;AF_afr=0.0025;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0178;AF_fin=0.0331;AF_asj=0.0241;AF_oth=0.0211;non_topmed_AF_popmax=0.0177;non_neuro_AF_popmax=0.0178;non_cancer_AF_popmax=.;controls_AF_popmax=0.0221;Kaviar_AF=0.0054557;Kaviar_AC=142;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.722202;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172661843 rs150813574 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12682;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.T244A:p.C82S,NKX2-5:NM_001166176:exon1:c.T244A:p.C82S,NKX2-5:NM_004387:exon1:c.T244A:p.C82S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150813574;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.414;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.112;Polyphen2_HDIV_rankscore=0.247;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_rankscore=0.234;Polyphen2_HVAR_pred=B;LRT_score=0.962;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-0.14;PROVEAN_converted_rankscore=0.092;PROVEAN_pred=N;VEST3_score=0.1;VEST3_rankscore=0.244;MetaSVM_score=-0.606;MetaSVM_rankscore=0.646;MetaSVM_pred=T;MetaLR_score=0.402;MetaLR_rankscore=0.753;MetaLR_pred=T;M-CAP_score=0.120;M-CAP_rankscore=0.801;M-CAP_pred=D;REVEL_score=0.226;REVEL_rankscore=0.529;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.130;CADD_raw_rankscore=0.203;CADD_phred=11.38;DANN_score=0.798;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.639;fathmm-MKL_coding_rankscore=0.320;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.610;Eigen-PC-raw=-0.485;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.443;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=3.35;GERP++_RS_rankscore=0.373;phyloP100way_vertebrate=0.638;phyloP100way_vertebrate_rankscore=0.242;phyloP20way_mammalian=0.999;phyloP20way_mammalian_rankscore=0.621;phastCons100way_vertebrate=0.677;phastCons100way_vertebrate_rankscore=0.282;phastCons20way_mammalian=0.063;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=0.304;SiPhy_29way_logOdds_rankscore=0.003;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.177e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.083e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.189e-05;AF_popmax=6.491e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.038e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.950030;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +5 172662024 rs2277923 T C 100 PASS AC=60;AF=0.535743;AN=214;NS=2504;DP=12062;EAS_AF=0.6339;AMR_AF=0.5058;AFR_AF=0.7254;EUR_AF=0.2823;SAS_AF=0.4601;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E;1000g2015aug_all=0.535743;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277923;CLNALLELEID=54004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2813;ExAC_nontcga_ALL=0.4112;ExAC_nontcga_AFR=0.6755;ExAC_nontcga_AMR=0.5668;ExAC_nontcga_EAS=0.6345;ExAC_nontcga_FIN=0.4350;ExAC_nontcga_NFE=0.3030;ExAC_nontcga_OTH=0.4079;ExAC_nontcga_SAS=0.4072;AF=0.4323;AF_popmax=0.6538;AF_male=0.4325;AF_female=0.4322;AF_raw=0.4315;AF_afr=0.6538;AF_sas=.;AF_amr=0.5177;AF_eas=0.6396;AF_nfe=0.2933;AF_fin=0.4146;AF_asj=0.2448;AF_oth=0.3692;non_topmed_AF_popmax=0.6531;non_neuro_AF_popmax=0.6492;non_cancer_AF_popmax=.;controls_AF_popmax=0.6583;Kaviar_AF=0.0015847;Kaviar_AC=245;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000778148|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1497668|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.951883;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|0 +6 7542148 rs17133512 C CA 100 PASS AC=23;AF=0.199681;AN=214;NS=2504;DP=12541;EAS_AF=0.2778;AMR_AF=0.2291;AFR_AF=0.2186;EUR_AF=0.1451;SAS_AF=0.1288;AA=|||unknown(LONG_INSERTION);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DSP;GeneDetail.refGene=NM_001319034:c.-1_0insA\x3bNM_004415:c.-1_0insA\x3bNM_001008844:c.-1_0insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17133512;CLNALLELEID=44679;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1456;ExAC_nontcga_ALL=0.2002;ExAC_nontcga_AFR=0.2732;ExAC_nontcga_AMR=0.2820;ExAC_nontcga_EAS=0.3004;ExAC_nontcga_FIN=0.2527;ExAC_nontcga_NFE=0.1680;ExAC_nontcga_OTH=0.1489;ExAC_nontcga_SAS=0.1514;AF=0.1715;AF_popmax=0.2497;AF_male=0.1729;AF_female=0.1698;AF_raw=0.1718;AF_afr=0.2103;AF_sas=.;AF_amr=0.2264;AF_eas=0.2497;AF_nfe=0.1430;AF_fin=0.1629;AF_asj=0.1207;AF_oth=0.1522;non_topmed_AF_popmax=0.2467;non_neuro_AF_popmax=0.2497;non_cancer_AF_popmax=.;controls_AF_popmax=0.2336;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004776|hsa-miR-505-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934522;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 +6 7542236 rs121912998 G A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=13671;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G88A:p.V30M,DSP:NM_001319034:exon1:c.G88A:p.V30M,DSP:NM_004415:exon1:c.G88A:p.V30M;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121912998;CLNALLELEID=31885;CLNDN=Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.680;LRT_converted_rankscore=0.061;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=A;MutationAssessor_score=-0.695;MutationAssessor_score_rankscore=0.019;MutationAssessor_pred=N;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.732;FATHMM_pred=T;PROVEAN_score=0.4;PROVEAN_converted_rankscore=0.042;PROVEAN_pred=N;VEST3_score=0.675;VEST3_rankscore=0.690;MetaSVM_score=-1.128;MetaSVM_rankscore=0.019;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.122;MetaLR_pred=T;M-CAP_score=0.230;M-CAP_rankscore=0.883;M-CAP_pred=D;REVEL_score=0.387;REVEL_rankscore=0.707;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.115;CADD_raw_rankscore=0.007;CADD_phred=0.001;DANN_score=0.930;DANN_rankscore=0.220;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.024;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.242;Eigen-PC-raw=-2.260;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-7.34;GERP++_RS_rankscore=0.013;phyloP100way_vertebrate=-0.807;phyloP100way_vertebrate_rankscore=0.046;phyloP20way_mammalian=-1.856;phyloP20way_mammalian_rankscore=0.006;phastCons100way_vertebrate=0.123;phastCons100way_vertebrate_rankscore=0.230;phastCons20way_mammalian=0.164;phastCons20way_mammalian_rankscore=0.209;SiPhy_29way_logOdds=4.332;SiPhy_29way_logOdds_rankscore=0.104;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0036;ExAC_nontcga_SAS=0.0057;AF=0.0009;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0008;AF_raw=0.0009;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934048;ALLELE_END;VINYL_score=5.5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7542253 rs77445784 G A 100 PASS AC=3;AF=0.00339457;AN=214;NS=2504;DP=13696;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G105A:p.G35G,DSP:NM_001319034:exon1:c.G105A:p.G35G,DSP:NM_004415:exon1:c.G105A:p.G35G;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77445784;CLNALLELEID=44680;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0087;ExAC_nontcga_ALL=0.0090;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0087;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0043;ExAC_nontcga_NFE=0.0164;ExAC_nontcga_OTH=0.0091;ExAC_nontcga_SAS=0.0015;AF=0.0033;AF_popmax=0.0050;AF_male=0.0032;AF_female=0.0035;AF_raw=0.0034;AF_afr=0.0020;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0012;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.944163;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7542274 rs36087964 T C 100 PASS AC=15;AF=0.0609026;AN=214;NS=2504;DP=13569;EAS_AF=0.0248;AMR_AF=0.0403;AFR_AF=0.1165;EUR_AF=0.0577;SAS_AF=0.0409;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.T126C:p.Y42Y,DSP:NM_001319034:exon1:c.T126C:p.Y42Y,DSP:NM_004415:exon1:c.T126C:p.Y42Y;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36087964;CLNALLELEID=54022;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0524;ExAC_nontcga_ALL=0.0975;ExAC_nontcga_AFR=0.1692;ExAC_nontcga_AMR=0.0685;ExAC_nontcga_EAS=0.0364;ExAC_nontcga_FIN=0.1736;ExAC_nontcga_NFE=0.1182;ExAC_nontcga_OTH=0.0978;ExAC_nontcga_SAS=0.0604;AF=0.0643;AF_popmax=0.0973;AF_male=0.0642;AF_female=0.0645;AF_raw=0.0643;AF_afr=0.0973;AF_sas=.;AF_amr=0.0436;AF_eas=0.0179;AF_nfe=0.0535;AF_fin=0.0533;AF_asj=0.0931;AF_oth=0.0634;non_topmed_AF_popmax=0.0974;non_neuro_AF_popmax=0.1048;non_cancer_AF_popmax=.;controls_AF_popmax=0.1038;Kaviar_AF=0.0413449;Kaviar_AC=6392;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000192801|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.927953;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 +6 7556063 rs56148603 C T 100 PASS AC=6;AF=0.0125799;AN=214;NS=2504;DP=17218;EAS_AF=0;AMR_AF=0.0317;AFR_AF=0.0008;EUR_AF=0.0348;SAS_AF=0.0051;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56148603;CLNALLELEID=54046;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0378;ExAC_nontcga_ALL=0.0239;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0194;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0137;ExAC_nontcga_NFE=0.0371;ExAC_nontcga_OTH=0.0206;ExAC_nontcga_SAS=0.0093;AF=0.0216;AF_popmax=0.0338;AF_male=0.0208;AF_female=0.0225;AF_raw=0.0215;AF_afr=0.0082;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0338;AF_fin=0.0098;AF_asj=0.0138;AF_oth=0.0230;non_topmed_AF_popmax=0.0339;non_neuro_AF_popmax=0.0343;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.023719;Kaviar_AC=3667;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.662519;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7558318 rs10484326 T C 100 PASS AC=59;AF=0.15615;AN=214;NS=2504;DP=22235;EAS_AF=0.0526;AMR_AF=0.1542;AFR_AF=0.1611;EUR_AF=0.2614;SAS_AF=0.1493;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.15615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10484326;CLNALLELEID=140870;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2349;ExAC_nontcga_ALL=0.1924;ExAC_nontcga_AFR=0.1737;ExAC_nontcga_AMR=0.1208;ExAC_nontcga_EAS=0.0427;ExAC_nontcga_FIN=0.2621;ExAC_nontcga_NFE=0.2353;ExAC_nontcga_OTH=0.2277;ExAC_nontcga_SAS=0.1520;AF=0.2040;AF_popmax=0.2280;AF_male=0.2009;AF_female=0.2079;AF_raw=0.2042;AF_afr=0.1641;AF_sas=.;AF_amr=0.1639;AF_eas=0.0494;AF_nfe=0.2280;AF_fin=0.2595;AF_asj=0.3034;AF_oth=0.2325;non_topmed_AF_popmax=0.2198;non_neuro_AF_popmax=0.2292;non_cancer_AF_popmax=.;controls_AF_popmax=0.2099;Kaviar_AF=0.195897;Kaviar_AC=30286;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1605381|N/A|FOXA1|PAZAR,OREG1663620|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.908118;ALLELE_END;VINYL_score=2 GT 0|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 +6 7563982 rs544360130 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18454;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.C740T:p.A247V,DSP:NM_001319034:exon6:c.C740T:p.A247V,DSP:NM_004415:exon6:c.C740T:p.A247V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544360130;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.031;SIFT_converted_rankscore=0.450;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.513;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=-3.1;FATHMM_converted_rankscore=0.927;FATHMM_pred=D;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.557;VEST3_rankscore=0.611;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_rankscore=0.935;MetaLR_pred=D;M-CAP_score=0.149;M-CAP_rankscore=0.832;M-CAP_pred=D;REVEL_score=0.531;REVEL_rankscore=0.805;MutPred_score=0.311;MutPred_rankscore=0.285;CADD_raw=2.649;CADD_raw_rankscore=0.380;CADD_phred=20.5;DANN_score=0.989;DANN_rankscore=0.478;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.739;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.304;Eigen-PC-raw=0.287;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.36;GERP++_RS_rankscore=0.765;phyloP100way_vertebrate=5.385;phyloP100way_vertebrate_rankscore=0.658;phyloP20way_mammalian=0.881;phyloP20way_mammalian_rankscore=0.386;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.754;phastCons20way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=19.098;SiPhy_29way_logOdds_rankscore=0.932;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831270;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7563983 rs2806234 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18415;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_001319034:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2806234;CLNALLELEID=54119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9981;ExAC_nontcga_ALL=0.9992;ExAC_nontcga_AFR=0.9997;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9994;ExAC_nontcga_NFE=0.9985;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9995;AF_popmax=1;AF_male=0.9994;AF_female=0.9996;AF_raw=0.9995;AF_afr=0.9999;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9992;AF_fin=0.9991;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.964399;Kaviar_AC=149098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831270;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 7564139 rs1358903 C G 100 PASS AC=60;AF=0.345647;AN=214;NS=2504;DP=19707;EAS_AF=0.4683;AMR_AF=0.3501;AFR_AF=0.3752;EUR_AF=0.2753;SAS_AF=0.2485;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.345647;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1358903;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3083;AF_popmax=0.4704;AF_male=0.3143;AF_female=0.3007;AF_raw=0.3081;AF_afr=0.3721;AF_sas=.;AF_amr=0.3121;AF_eas=0.4704;AF_nfe=0.2847;AF_fin=0.1995;AF_asj=0.2276;AF_oth=0.2671;non_topmed_AF_popmax=0.4703;non_neuro_AF_popmax=0.4704;non_cancer_AF_popmax=.;controls_AF_popmax=0.4780;Kaviar_AF=0.0593524;Kaviar_AC=9176;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|0 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 +6 7565627 rs201781844 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18423;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.G813T:p.Q271H,DSP:NM_001319034:exon7:c.G813T:p.Q271H,DSP:NM_004415:exon7:c.G813T:p.Q271H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201781844;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=1.895;MutationAssessor_score_rankscore=0.505;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_converted_rankscore=0.926;FATHMM_pred=D;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.348;VEST3_rankscore=0.409;MetaSVM_score=-0.070;MetaSVM_rankscore=0.808;MetaSVM_pred=T;MetaLR_score=0.498;MetaLR_rankscore=0.810;MetaLR_pred=T;M-CAP_score=0.046;M-CAP_rankscore=0.626;M-CAP_pred=D;REVEL_score=0.363;REVEL_rankscore=0.687;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.456;CADD_raw_rankscore=0.356;CADD_phred=19.18;DANN_score=0.997;DANN_rankscore=0.808;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.519;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.166;Eigen-PC-raw=-0.021;GenoCanyon_score=0.967;GenoCanyon_score_rankscore=0.289;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.61;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=1.038;phyloP100way_vertebrate_rankscore=0.297;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.828;SiPhy_29way_logOdds_rankscore=0.340;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.896415;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7565727 rs17604693 A T 100 PASS AC=10;AF=0.0183706;AN=214;NS=2504;DP=18347;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0408;SAS_AF=0.0389;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.A913T:p.I305F,DSP:NM_001319034:exon7:c.A913T:p.I305F,DSP:NM_004415:exon7:c.A913T:p.I305F;1000g2015aug_all=0.0183706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17604693;CLNALLELEID=44690;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.869;Polyphen2_HVAR_rankscore=0.600;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.41;MutationAssessor_score_rankscore=0.699;MutationAssessor_pred=M;FATHMM_score=-3.52;FATHMM_converted_rankscore=0.947;FATHMM_pred=D;PROVEAN_score=-2.21;PROVEAN_converted_rankscore=0.496;PROVEAN_pred=N;VEST3_score=0.243;VEST3_rankscore=0.297;MetaSVM_score=0.905;MetaSVM_rankscore=0.958;MetaSVM_pred=D;MetaLR_score=0.860;MetaLR_rankscore=0.953;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.593;REVEL_rankscore=0.840;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.980;CADD_raw_rankscore=0.822;CADD_phred=27.8;DANN_score=0.990;DANN_rankscore=0.498;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.937;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.801;Eigen-PC-raw=0.792;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=9.197;phyloP100way_vertebrate_rankscore=0.941;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.71;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0419;ExAC_nontcga_ALL=0.0290;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0227;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0362;AF=0.0247;AF_popmax=0.0389;AF_male=0.0244;AF_female=0.0252;AF_raw=0.0247;AF_afr=0.0059;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0389;AF_fin=0.0199;AF_asj=0.0517;AF_oth=0.0230;non_topmed_AF_popmax=0.0414;non_neuro_AF_popmax=0.0382;non_cancer_AF_popmax=.;controls_AF_popmax=0.0412;Kaviar_AF=0.0303877;Kaviar_AC=4698;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.907885;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 7565801 rs201872850 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19933;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201872850;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.441e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7566745 rs200962599 G GA 100 PASS AC=4;AF=0.0239617;AN=214;NS=2504;DP=16907;EAS_AF=0.0308;AMR_AF=0.0072;AFR_AF=0.0265;EUR_AF=0.0139;SAS_AF=0.0358;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200962599;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0299;ExAC_nontcga_ALL=0.1014;ExAC_nontcga_AFR=0.0645;ExAC_nontcga_AMR=0.0796;ExAC_nontcga_EAS=0.0573;ExAC_nontcga_FIN=0.0178;ExAC_nontcga_NFE=0.0776;ExAC_nontcga_OTH=0.1373;ExAC_nontcga_SAS=0.2415;AF=0.0023;AF_popmax=0.0032;AF_male=0.0022;AF_female=0.0025;AF_raw=0.0095;AF_afr=0.0026;AF_sas=.;AF_amr=0.0032;AF_eas=0;AF_nfe=0.0009;AF_fin=0.014;AF_asj=0;AF_oth=0.0040;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0023;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.223129;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7567970 rs2076296 C T 100 PASS AC=166;AF=0.772764;AN=214;NS=2504;DP=20658;EAS_AF=0.8006;AMR_AF=0.7896;AFR_AF=0.8222;EUR_AF=0.7644;SAS_AF=0.6738;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.772764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076296;CLNALLELEID=252531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7752;ExAC_nontcga_ALL=0.7554;ExAC_nontcga_AFR=0.8015;ExAC_nontcga_AMR=0.7574;ExAC_nontcga_EAS=0.8160;ExAC_nontcga_FIN=0.7105;ExAC_nontcga_NFE=0.7653;ExAC_nontcga_OTH=0.7486;ExAC_nontcga_SAS=0.6851;AF=0.7653;AF_popmax=0.8160;AF_male=0.7667;AF_female=0.7636;AF_raw=0.7653;AF_afr=0.7975;AF_sas=.;AF_amr=0.7518;AF_eas=0.8160;AF_nfe=0.7559;AF_fin=0.7121;AF_asj=0.8483;AF_oth=0.7279;non_topmed_AF_popmax=0.8146;non_neuro_AF_popmax=0.8160;non_cancer_AF_popmax=.;controls_AF_popmax=0.8173;Kaviar_AF=0.75272;Kaviar_AC=116372;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|0 +6 7569353 rs148975065 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20335;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148975065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7571874 rs926411 G A 100 PASS AC=167;AF=0.819688;AN=214;NS=2504;DP=19860;EAS_AF=0.8036;AMR_AF=0.7983;AFR_AF=0.9902;EUR_AF=0.7664;SAS_AF=0.6759;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.819688;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs926411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8131;AF_popmax=0.9574;AF_male=0.8156;AF_female=0.8100;AF_raw=0.8129;AF_afr=0.9574;AF_sas=.;AF_amr=0.7665;AF_eas=0.8179;AF_nfe=0.7604;AF_fin=0.7135;AF_asj=0.8552;AF_oth=0.7399;non_topmed_AF_popmax=0.9579;non_neuro_AF_popmax=0.9531;non_cancer_AF_popmax=.;controls_AF_popmax=0.9553;Kaviar_AF=0.150134;Kaviar_AC=23211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.423943;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 +6 7572026 rs2076303 T A 100 PASS AC=92;AF=0.508986;AN=214;NS=2504;DP=20143;EAS_AF=0.7589;AMR_AF=0.5735;AFR_AF=0.3812;EUR_AF=0.3946;SAS_AF=0.4959;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.508986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076303;CLNALLELEID=252532;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4183;ExAC_nontcga_ALL=0.4582;ExAC_nontcga_AFR=0.3800;ExAC_nontcga_AMR=0.5838;ExAC_nontcga_EAS=0.7755;ExAC_nontcga_FIN=0.3094;ExAC_nontcga_NFE=0.4082;ExAC_nontcga_OTH=0.4133;ExAC_nontcga_SAS=0.4915;AF=0.4086;AF_popmax=0.7690;AF_male=0.4165;AF_female=0.3986;AF_raw=0.4082;AF_afr=0.3855;AF_sas=.;AF_amr=0.5331;AF_eas=0.7690;AF_nfe=0.4026;AF_fin=0.3131;AF_asj=0.3681;AF_oth=0.3808;non_topmed_AF_popmax=0.7671;non_neuro_AF_popmax=0.7690;non_cancer_AF_popmax=.;controls_AF_popmax=0.7648;Kaviar_AF=0.442459;Kaviar_AC=68405;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 1|0 0|1 1|1 1|0 0|1 0|1 1|1 0|0 0|1 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|1 0|0 1|0 0|0 1|0 1|1 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 1|0 1|1 0|1 1|0 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|0 1|0 1|1 0|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 +6 7572262 rs2076304 A G 100 PASS AC=167;AF=0.774361;AN=214;NS=2504;DP=18680;EAS_AF=0.8026;AMR_AF=0.7925;AFR_AF=0.823;EUR_AF=0.7664;SAS_AF=0.6748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_001319034:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G;1000g2015aug_all=0.774361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076304;CLNALLELEID=54037;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7795;ExAC_nontcga_ALL=0.7580;ExAC_nontcga_AFR=0.8032;ExAC_nontcga_AMR=0.7605;ExAC_nontcga_EAS=0.8168;ExAC_nontcga_FIN=0.7120;ExAC_nontcga_NFE=0.7690;ExAC_nontcga_OTH=0.7486;ExAC_nontcga_SAS=0.6862;AF=0.7685;AF_popmax=0.8179;AF_male=0.7691;AF_female=0.7677;AF_raw=0.7681;AF_afr=0.7999;AF_sas=.;AF_amr=0.7571;AF_eas=0.8179;AF_nfe=0.76;AF_fin=0.7135;AF_asj=0.8483;AF_oth=0.7297;non_topmed_AF_popmax=0.8160;non_neuro_AF_popmax=0.8179;non_cancer_AF_popmax=.;controls_AF_popmax=0.8199;Kaviar_AF=0.750851;Kaviar_AC=116083;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.831281;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 +6 7574536 rs7741957 T C 100 PASS AC=4;AF=0.140974;AN=214;NS=2504;DP=19129;EAS_AF=0.2887;AMR_AF=0.1542;AFR_AF=0.1573;EUR_AF=0.0129;SAS_AF=0.089;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.140974;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7741957;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0104;ExAC_nontcga_ALL=0.0780;ExAC_nontcga_AFR=0.1481;ExAC_nontcga_AMR=0.2158;ExAC_nontcga_EAS=0.3061;ExAC_nontcga_FIN=0.0377;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0541;ExAC_nontcga_SAS=0.0731;AF=0.0685;AF_popmax=0.3017;AF_male=0.0719;AF_female=0.0642;AF_raw=0.0686;AF_afr=0.1378;AF_sas=.;AF_amr=0.1757;AF_eas=0.3017;AF_nfe=0.0083;AF_fin=0.0409;AF_asj=0.0379;AF_oth=0.0469;non_topmed_AF_popmax=0.2993;non_neuro_AF_popmax=0.3017;non_cancer_AF_popmax=.;controls_AF_popmax=0.2871;Kaviar_AF=0.0680586;Kaviar_AC=10522;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.085969;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7574852 rs2295859 T C 100 PASS AC=15;AF=0.0638978;AN=214;NS=2504;DP=21371;EAS_AF=0.0813;AMR_AF=0.0533;AFR_AF=0.0794;EUR_AF=0.0557;SAS_AF=0.0409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295859;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0577;ExAC_nontcga_ALL=0.0510;ExAC_nontcga_AFR=0.0715;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0645;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0544;ExAC_nontcga_OTH=0.0663;ExAC_nontcga_SAS=0.0426;AF=0.0571;AF_popmax=0.0760;AF_male=0.0600;AF_female=0.0534;AF_raw=0.0571;AF_afr=0.0760;AF_sas=.;AF_amr=0.0425;AF_eas=0.0686;AF_nfe=0.0532;AF_fin=0.0265;AF_asj=0.0690;AF_oth=0.0496;non_topmed_AF_popmax=0.0762;non_neuro_AF_popmax=0.0765;non_cancer_AF_popmax=.;controls_AF_popmax=0.0719;Kaviar_AF=0.0523991;Kaviar_AC=8101;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.336561;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 +6 7576527 rs1016835 G A 100 PASS AC=170;AF=0.735423;AN=214;NS=2504;DP=19016;EAS_AF=0.8056;AMR_AF=0.7882;AFR_AF=0.6082;EUR_AF=0.8012;SAS_AF=0.7301;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_001319034:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R;1000g2015aug_all=0.735423;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1016835;CLNALLELEID=54044;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.8024;ExAC_nontcga_ALL=0.7695;ExAC_nontcga_AFR=0.6465;ExAC_nontcga_AMR=0.7706;ExAC_nontcga_EAS=0.8050;ExAC_nontcga_FIN=0.7117;ExAC_nontcga_NFE=0.7990;ExAC_nontcga_OTH=0.7457;ExAC_nontcga_SAS=0.7459;AF=0.7354;AF_popmax=0.7969;AF_male=0.7334;AF_female=0.7379;AF_raw=0.7346;AF_afr=0.6378;AF_sas=.;AF_amr=0.7759;AF_eas=0.7969;AF_nfe=0.7828;AF_fin=0.7186;AF_asj=0.8414;AF_oth=0.75;non_topmed_AF_popmax=0.7945;non_neuro_AF_popmax=0.7969;non_cancer_AF_popmax=.;controls_AF_popmax=0.7860;Kaviar_AF=0.76891;Kaviar_AC=118875;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670850;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7577260 rs2064217 C T 100 PASS AC=50;AF=0.27516;AN=214;NS=2504;DP=18325;EAS_AF=0.1915;AMR_AF=0.2363;AFR_AF=0.4039;EUR_AF=0.2266;SAS_AF=0.2648;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon20:c.C2862T:p.C954C,DSP:NM_001319034:exon20:c.C2862T:p.C954C,DSP:NM_004415:exon20:c.C2862T:p.C954C;1000g2015aug_all=0.27516;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2064217;CLNALLELEID=54053;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2159;ExAC_nontcga_ALL=0.2439;ExAC_nontcga_AFR=0.3716;ExAC_nontcga_AMR=0.2571;ExAC_nontcga_EAS=0.1944;ExAC_nontcga_FIN=0.2513;ExAC_nontcga_NFE=0.2189;ExAC_nontcga_OTH=0.2849;ExAC_nontcga_SAS=0.2660;AF=0.2732;AF_popmax=0.3770;AF_male=0.2759;AF_female=0.2699;AF_raw=0.2731;AF_afr=0.3770;AF_sas=.;AF_amr=0.2376;AF_eas=0.2018;AF_nfe=0.2310;AF_fin=0.2510;AF_asj=0.2138;AF_oth=0.2587;non_topmed_AF_popmax=0.3763;non_neuro_AF_popmax=0.3742;non_cancer_AF_popmax=.;controls_AF_popmax=0.3801;Kaviar_AF=0.238263;Kaviar_AC=36836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.933623;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|1 1|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +6 7577354 rs2064218 C A 100 PASS AC=141;AF=0.69389;AN=214;NS=2504;DP=18712;EAS_AF=0.5556;AMR_AF=0.6542;AFR_AF=0.8661;EUR_AF=0.6412;SAS_AF=0.6861;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.69389;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2064218;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6708;AF_popmax=0.8259;AF_male=0.6705;AF_female=0.6712;AF_raw=0.6702;AF_afr=0.8259;AF_sas=.;AF_amr=0.6647;AF_eas=0.5627;AF_nfe=0.6020;AF_fin=0.6465;AF_asj=0.7207;AF_oth=0.6245;non_topmed_AF_popmax=0.8256;non_neuro_AF_popmax=0.8240;non_cancer_AF_popmax=.;controls_AF_popmax=0.8309;Kaviar_AF=0.123064;Kaviar_AC=19026;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.351438;ALLELE_END;VINYL_score=2 GT 1|0 1|1 0|0 1|0 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|1 0|0 0|0 1|0 1|0 1|1 0|0 1|0 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 0|1 0|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 0|1 1|0 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 0|1 0|1 0|0 1|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|0 1|0 0|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 0|0 0|1 +6 7578189 rs6942260 G A 100 PASS AC=62;AF=0.279353;AN=214;NS=2504;DP=19083;EAS_AF=0.4415;AMR_AF=0.3271;AFR_AF=0.1051;EUR_AF=0.2952;SAS_AF=0.2975;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279353;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6942260;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2601;AF_popmax=0.4379;AF_male=0.2629;AF_female=0.2566;AF_raw=0.2604;AF_afr=0.1381;AF_sas=.;AF_amr=0.3208;AF_eas=0.4379;AF_nfe=0.3079;AF_fin=0.2507;AF_asj=0.2604;AF_oth=0.2895;non_topmed_AF_popmax=0.4370;non_neuro_AF_popmax=0.4379;non_cancer_AF_popmax=.;controls_AF_popmax=0.4382;Kaviar_AF=0.296219;Kaviar_AC=7710;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.980652;ALLELE_END;VINYL_score=1 GT 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|1 1|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 1|1 1|0 +6 7578819 rs2806229 T G 100 PASS AC=170;AF=0.740016;AN=214;NS=2504;DP=17898;EAS_AF=0.8036;AMR_AF=0.7925;AFR_AF=0.6248;EUR_AF=0.8002;SAS_AF=0.7311;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.740016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2806229;CLNALLELEID=252533;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8023;ExAC_nontcga_ALL=0.7709;ExAC_nontcga_AFR=0.6587;ExAC_nontcga_AMR=0.7707;ExAC_nontcga_EAS=0.8039;ExAC_nontcga_FIN=0.7137;ExAC_nontcga_NFE=0.7987;ExAC_nontcga_OTH=0.7464;ExAC_nontcga_SAS=0.7492;AF=0.7364;AF_popmax=0.7964;AF_male=0.7350;AF_female=0.7382;AF_raw=0.7370;AF_afr=0.6472;AF_sas=.;AF_amr=0.7728;AF_eas=0.7964;AF_nfe=0.7803;AF_fin=0.7189;AF_asj=0.8345;AF_oth=0.7444;non_topmed_AF_popmax=0.7939;non_neuro_AF_popmax=0.7964;non_cancer_AF_popmax=.;controls_AF_popmax=0.7848;Kaviar_AF=0.75261;Kaviar_AC=116355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.050066;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7578823 rs2842691 G A 100 PASS AC=170;AF=0.764377;AN=214;NS=2504;DP=17853;EAS_AF=0.8036;AMR_AF=0.7954;AFR_AF=0.7156;EUR_AF=0.8002;SAS_AF=0.7311;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.764377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2842691;CLNALLELEID=252534;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8030;ExAC_nontcga_ALL=0.7775;ExAC_nontcga_AFR=0.7319;ExAC_nontcga_AMR=0.7737;ExAC_nontcga_EAS=0.8041;ExAC_nontcga_FIN=0.7112;ExAC_nontcga_NFE=0.7991;ExAC_nontcga_OTH=0.7478;ExAC_nontcga_SAS=0.7492;AF=0.7587;AF_popmax=0.7974;AF_male=0.7578;AF_female=0.7597;AF_raw=0.7585;AF_afr=0.7237;AF_sas=.;AF_amr=0.7776;AF_eas=0.7974;AF_nfe=0.7818;AF_fin=0.7186;AF_asj=0.8414;AF_oth=0.7481;non_topmed_AF_popmax=0.7949;non_neuro_AF_popmax=0.7974;non_cancer_AF_popmax=.;controls_AF_popmax=0.7848;Kaviar_AF=0.004573;Kaviar_AC=707;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.850793;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7579705 rs2491080 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19119;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon23:c.G3282C:p.K1094N,DSP:NM_001319034:exon23:c.G3282C:p.K1094N,DSP:NM_004415:exon23:c.G3282C:p.K1094N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2491080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.478;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.965;MutationTaster_converted_rankscore=0.384;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-3.47;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.264;VEST3_rankscore=0.321;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.147;M-CAP_rankscore=0.830;M-CAP_pred=D;REVEL_score=0.419;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.683;CADD_raw_rankscore=0.775;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.732;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.083;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.437;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=2.434;phyloP100way_vertebrate_rankscore=0.442;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.426;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.930087;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon23:c.G3282C:p.K1094N,DSP:NM_001319034:exon23:c.G3282C:p.K1094N,DSP:NM_004415:exon23:c.G3282C:p.K1094N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2491080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.478;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.965;MutationTaster_converted_rankscore=0.384;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-3.47;FATHMM_converted_rankscore=0.945;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.264;VEST3_rankscore=0.321;MetaSVM_score=0.579;MetaSVM_rankscore=0.916;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.147;M-CAP_rankscore=0.830;M-CAP_pred=D;REVEL_score=0.419;REVEL_rankscore=0.732;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.683;CADD_raw_rankscore=0.775;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.732;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.083;Eigen-PC-raw=0.118;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.437;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.01;GERP++_RS_rankscore=0.254;phyloP100way_vertebrate=2.434;phyloP100way_vertebrate_rankscore=0.442;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.426;SiPhy_29way_logOdds_rankscore=0.491;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.930087;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580285 rs138907450 A C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19092;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.A3862C:p.K1288Q,DSP:NM_004415:exon23:c.A3862C:p.K1288Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138907450;CLNALLELEID=173855;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.09;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_rankscore=0.759;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.452;LRT_pred=N;MutationTaster_score=0.651;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_score_rankscore=0.315;MutationAssessor_pred=L;FATHMM_score=-2.9;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-2.32;PROVEAN_converted_rankscore=0.514;PROVEAN_pred=N;VEST3_score=0.447;VEST3_rankscore=0.501;MetaSVM_score=0.167;MetaSVM_rankscore=0.853;MetaSVM_pred=D;MetaLR_score=0.668;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.196;M-CAP_rankscore=0.865;M-CAP_pred=D;REVEL_score=0.801;REVEL_rankscore=0.936;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.765;CADD_raw_rankscore=0.167;CADD_phred=9.247;DANN_score=0.989;DANN_rankscore=0.472;fathmm-MKL_coding_score=0.845;fathmm-MKL_coding_rankscore=0.433;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.213;Eigen-PC-raw=0.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.97;GERP++_RS_rankscore=0.451;phyloP100way_vertebrate=1.649;phyloP100way_vertebrate_rankscore=0.367;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.641;SiPhy_29way_logOdds_rankscore=0.503;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=9.561e-05;AF_popmax=6.486e-05;AF_male=0.0001;AF_female=7.192e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.486e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952498;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +6 7580346 rs184154918 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18099;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.G3923C:p.R1308P,DSP:NM_004415:exon23:c.G3923C:p.R1308P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs184154918;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.929;Polyphen2_HDIV_rankscore=0.497;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.519;Polyphen2_HVAR_rankscore=0.463;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.209;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-3.01;FATHMM_converted_rankscore=0.922;FATHMM_pred=D;PROVEAN_score=-2.85;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=D;VEST3_score=0.7;VEST3_rankscore=0.704;MetaSVM_score=-0.046;MetaSVM_rankscore=0.813;MetaSVM_pred=T;MetaLR_score=0.595;MetaLR_rankscore=0.856;MetaLR_pred=D;M-CAP_score=0.099;M-CAP_rankscore=0.772;M-CAP_pred=D;REVEL_score=0.400;REVEL_rankscore=0.717;MutPred_score=0.147;MutPred_rankscore=0.051;CADD_raw=4.219;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.986;DANN_rankscore=0.433;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.532;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.183;Eigen-PC-raw=0.145;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=3.361;phyloP100way_vertebrate_rankscore=0.518;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.871;phastCons100way_vertebrate_rankscore=0.306;phastCons20way_mammalian=0.119;phastCons20way_mammalian_rankscore=0.196;SiPhy_29way_logOdds=12.965;SiPhy_29way_logOdds_rankscore=0.577;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.89e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.910344;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580386 rs61731476 G A 100 PASS AC=3;AF=0.00579073;AN=214;NS=2504;DP=19364;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.G3963A:p.Q1321Q,DSP:NM_004415:exon23:c.G3963A:p.Q1321Q;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61731476;CLNALLELEID=54064;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0149;ExAC_nontcga_ALL=0.0138;ExAC_nontcga_AFR=0.0030;ExAC_nontcga_AMR=0.0091;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0165;ExAC_nontcga_NFE=0.0199;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0085;AF=0.0120;AF_popmax=0.0168;AF_male=0.0104;AF_female=0.0140;AF_raw=0.0120;AF_afr=0.0031;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0168;AF_fin=0.0181;AF_asj=0.0069;AF_oth=0.0157;non_topmed_AF_popmax=0.0174;non_neuro_AF_popmax=0.0174;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0135186;Kaviar_AC=2090;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000782355|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.955118;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580935 rs140993677 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22169;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C4512T:p.N1504N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140993677;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.435e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.855564;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7580958 rs2076299 A G 100 PASS AC=8;AF=0.203275;AN=214;NS=2504;DP=21936;EAS_AF=0.2867;AMR_AF=0.1772;AFR_AF=0.3139;EUR_AF=0.0358;SAS_AF=0.1585;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.A4535G:p.Y1512C;1000g2015aug_all=0.203275;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076299;CLNALLELEID=54082;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.179;SIFT_converted_rankscore=0.220;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_rankscore=0.343;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_rankscore=0.368;Polyphen2_HVAR_pred=B;LRT_score=0.132;LRT_converted_rankscore=0.186;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-0.46;FATHMM_converted_rankscore=0.700;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_converted_rankscore=0.189;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.188;MetaSVM_score=-1.089;MetaSVM_rankscore=0.056;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.283;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.104;REVEL_rankscore=0.301;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.670;CADD_raw_rankscore=0.158;CADD_phred=8.631;DANN_score=0.921;DANN_rankscore=0.208;fathmm-MKL_coding_score=0.582;fathmm-MKL_coding_rankscore=0.303;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.549;Eigen-PC-raw=-0.540;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.8;GERP++_RS_rankscore=0.240;phyloP100way_vertebrate=0.852;phyloP100way_vertebrate_rankscore=0.272;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.157;phastCons100way_vertebrate_rankscore=0.235;phastCons20way_mammalian=0.889;phastCons20way_mammalian_rankscore=0.374;SiPhy_29way_logOdds=5.571;SiPhy_29way_logOdds_rankscore=0.164;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0442;ExAC_nontcga_ALL=0.1206;ExAC_nontcga_AFR=0.2983;ExAC_nontcga_AMR=0.2250;ExAC_nontcga_EAS=0.2974;ExAC_nontcga_FIN=0.0625;ExAC_nontcga_NFE=0.0457;ExAC_nontcga_OTH=0.0922;ExAC_nontcga_SAS=0.1397;AF=0.1285;AF_popmax=0.2910;AF_male=0.1297;AF_female=0.1270;AF_raw=0.1289;AF_afr=0.2863;AF_sas=.;AF_amr=0.1969;AF_eas=0.2910;AF_nfe=0.0386;AF_fin=0.0647;AF_asj=0.0621;AF_oth=0.0790;non_topmed_AF_popmax=0.2884;non_neuro_AF_popmax=0.2910;non_cancer_AF_popmax=.;controls_AF_popmax=0.2859;Kaviar_AF=0.109785;Kaviar_AC=16973;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.927395;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7581001 rs28763966 C A 100 PASS AC=1;AF=0.0511182;AN=214;NS=2504;DP=21331;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.1876;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.C4578A:p.N1526K;1000g2015aug_all=0.0511182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763966;CLNALLELEID=54086;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.66;SIFT_converted_rankscore=0.047;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=0.07;PROVEAN_converted_rankscore=0.061;PROVEAN_pred=N;VEST3_score=0.008;VEST3_rankscore=0.000;MetaSVM_score=-1.086;MetaSVM_rankscore=0.061;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_rankscore=0.262;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.527;CADD_raw_rankscore=0.054;CADD_phred=0.188;DANN_score=0.645;DANN_rankscore=0.073;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.757;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.716;Eigen-PC-raw=-0.635;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.99;GERP++_RS_rankscore=0.335;phyloP100way_vertebrate=1.282;phyloP100way_vertebrate_rankscore=0.326;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.676;phastCons20way_mammalian_rankscore=0.304;SiPhy_29way_logOdds=8.148;SiPhy_29way_logOdds_rankscore=0.301;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0136;ExAC_nontcga_AFR=0.1503;ExAC_nontcga_AMR=0.0052;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0447;AF_popmax=0.1581;AF_male=0.0459;AF_female=0.0433;AF_raw=0.0448;AF_afr=0.1581;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1541;non_cancer_AF_popmax=.;controls_AF_popmax=0.1569;Kaviar_AF=0.0130723;Kaviar_AC=2021;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1685201|N/A|GATA3|PAZAR,OREG1663621|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.907499;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 7581196 rs28763968 G A 100 PASS AC=2;AF=0.0071885;AN=214;NS=2504;DP=18613;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G4773A:p.R1591R;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763968;CLNALLELEID=44685;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0174;ExAC_nontcga_ALL=0.0133;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0103;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0219;ExAC_nontcga_NFE=0.0198;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0017;AF=0.0131;AF_popmax=0.0200;AF_male=0.0127;AF_female=0.0136;AF_raw=0.0131;AF_afr=0.0029;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0169;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0184;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0181;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.013635;Kaviar_AC=2108;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1663621|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942304;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 7581636 rs6929069 G A 100 PASS AC=33;AF=0.240415;AN=214;NS=2504;DP=17459;EAS_AF=0.1944;AMR_AF=0.1859;AFR_AF=0.379;EUR_AF=0.1352;SAS_AF=0.2474;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5213A:p.R1738Q;1000g2015aug_all=0.240415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6929069;CLNALLELEID=54092;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_converted_rankscore=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.352;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.2;MutationAssessor_score_rankscore=0.092;MutationAssessor_pred=N;FATHMM_score=-0.62;FATHMM_converted_rankscore=0.719;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_converted_rankscore=0.305;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.036;MetaSVM_score=-1.093;MetaSVM_rankscore=0.051;MetaSVM_pred=T;MetaLR_score=0.076;MetaLR_rankscore=0.304;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.066;REVEL_rankscore=0.196;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.509;CADD_raw_rankscore=0.143;CADD_phred=7.501;DANN_score=0.985;DANN_rankscore=0.414;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.783;Eigen-PC-raw=-0.709;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.24;GERP++_RS_rankscore=0.361;phyloP100way_vertebrate=0.629;phyloP100way_vertebrate_rankscore=0.241;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.217;phastCons100way_vertebrate_rankscore=0.243;phastCons20way_mammalian=0.272;phastCons20way_mammalian_rankscore=0.232;SiPhy_29way_logOdds=9.217;SiPhy_29way_logOdds_rankscore=0.363;Interpro_domain=.;GTEx_V6p_gene=ENSG00000168566.11;GTEx_V6p_tissue=Cells_EBV-transformed_lymphocytes;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1257;ExAC_nontcga_ALL=0.1753;ExAC_nontcga_AFR=0.3255;ExAC_nontcga_AMR=0.2148;ExAC_nontcga_EAS=0.1930;ExAC_nontcga_FIN=0.1763;ExAC_nontcga_NFE=0.1221;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.2319;AF=0.1971;AF_popmax=0.3367;AF_male=0.2012;AF_female=0.1919;AF_raw=0.1972;AF_afr=0.3367;AF_sas=.;AF_amr=0.1981;AF_eas=0.2008;AF_nfe=0.1256;AF_fin=0.1765;AF_asj=0.1414;AF_oth=0.1719;non_topmed_AF_popmax=0.3365;non_neuro_AF_popmax=0.3310;non_cancer_AF_popmax=.;controls_AF_popmax=0.3352;Kaviar_AF=0.167656;Kaviar_AC=25920;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1308513|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.874629;ALLELE_END;VINYL_score=3.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +6 7581641 rs142885240 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17292;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5218A:p.E1740K;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142885240;CLNALLELEID=54093;CLNDN=Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0002076,MedGen:C3887485,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.962;Polyphen2_HDIV_rankscore=0.536;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_rankscore=0.338;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.491;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.39;MutationAssessor_score_rankscore=0.351;MutationAssessor_pred=L;FATHMM_score=-0.85;FATHMM_converted_rankscore=0.744;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_converted_rankscore=0.381;PROVEAN_pred=N;VEST3_score=0.729;VEST3_rankscore=0.728;MetaSVM_score=-0.875;MetaSVM_rankscore=0.502;MetaSVM_pred=T;MetaLR_score=0.140;MetaLR_rankscore=0.460;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.550;M-CAP_pred=D;REVEL_score=0.307;REVEL_rankscore=0.632;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.993;CADD_raw_rankscore=0.189;CADD_phred=10.62;DANN_score=0.998;DANN_rankscore=0.869;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.591;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=-0.072;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=3.213;phyloP100way_vertebrate_rankscore=0.506;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.156;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=17.082;SiPhy_29way_logOdds_rankscore=0.864;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0007;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0012872;Kaviar_AC=199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1308513|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.893308;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7582993 rs78652302 A T 100 PASS AC=6;AF=0.00399361;AN=214;NS=2504;DP=17003;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A3701T:p.E1234V,DSP:NM_001319034:exon24:c.A4169T:p.E1390V,DSP:NM_004415:exon24:c.A5498T:p.E1833V;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78652302;CLNALLELEID=54096;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.436;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_score_rankscore=0.562;MutationAssessor_pred=M;FATHMM_score=-0.18;FATHMM_converted_rankscore=0.658;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_converted_rankscore=0.699;PROVEAN_pred=D;VEST3_score=0.259;VEST3_rankscore=0.592;MetaSVM_score=-0.724;MetaSVM_rankscore=0.593;MetaSVM_pred=T;MetaLR_score=0.256;MetaLR_rankscore=0.627;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.311;CADD_raw_rankscore=0.872;CADD_phred=29.2;DANN_score=0.995;DANN_rankscore=0.665;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.784;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.645;Eigen-PC-raw=0.648;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.2;GERP++_RS_rankscore=0.716;phyloP100way_vertebrate=7.452;phyloP100way_vertebrate_rankscore=0.796;phyloP20way_mammalian=1.088;phyloP20way_mammalian_rankscore=0.866;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.091;SiPhy_29way_logOdds_rankscore=0.717;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0093;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0243;ExAC_nontcga_NFE=0.0142;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0004;AF=0.0111;AF_popmax=0.0148;AF_male=0.0103;AF_female=0.0121;AF_raw=0.0111;AF_afr=0.0021;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0148;AF_fin=0.0253;AF_asj=0.0069;AF_oth=0.0101;non_topmed_AF_popmax=0.0162;non_neuro_AF_popmax=0.0146;non_cancer_AF_popmax=.;controls_AF_popmax=0.0205;Kaviar_AF=0.0092431;Kaviar_AC=1429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.955679;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 7583885 rs28763969 T C 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=19703;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0119;SAS_AF=0.0123;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.T4593C:p.A1531A,DSP:NM_001319034:exon24:c.T5061C:p.A1687A,DSP:NM_004415:exon24:c.T6390C:p.A2130A;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28763969;CLNALLELEID=54105;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0136;ExAC_nontcga_ALL=0.0092;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0034;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0140;AF=0.0079;AF_popmax=0.0126;AF_male=0.0085;AF_female=0.0072;AF_raw=0.0079;AF_afr=0.0031;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0126;AF_fin=0.0040;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0114;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0069;Kaviar_AF=0.0102909;Kaviar_AC=1591;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934046;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7583946 rs181608152 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19168;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C4654T:p.R1552W,DSP:NM_001319034:exon24:c.C5122T:p.R1708W,DSP:NM_004415:exon24:c.C6451T:p.R2151W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181608152;CLNALLELEID=521849;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma;CLNDISDB=MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.76;MutationAssessor_score_rankscore=0.809;MutationAssessor_pred=M;FATHMM_score=-1.3;FATHMM_converted_rankscore=0.796;FATHMM_pred=T;PROVEAN_score=-6.32;PROVEAN_converted_rankscore=0.911;PROVEAN_pred=D;VEST3_score=0.89;VEST3_rankscore=0.932;MetaSVM_score=0.506;MetaSVM_rankscore=0.906;MetaSVM_pred=D;MetaLR_score=0.646;MetaLR_rankscore=0.876;MetaLR_pred=D;M-CAP_score=0.316;M-CAP_rankscore=0.914;M-CAP_pred=D;REVEL_score=0.837;REVEL_rankscore=0.950;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.649;CADD_raw_rankscore=0.912;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.694;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.656;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.864;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.727;phastCons20way_mammalian_rankscore=0.316;SiPhy_29way_logOdds=15.707;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.436e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=3.19e-05;AF_popmax=.;AF_male=5.733e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.943048;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7584617 rs2076300 C T 100 PASS AC=83;AF=0.211661;AN=214;NS=2504;DP=21083;EAS_AF=0.0744;AMR_AF=0.2421;AFR_AF=0.1369;EUR_AF=0.3797;SAS_AF=0.2597;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_001319034:exon24:c.C5793T:p.T1931T,DSP:NM_004415:exon24:c.C7122T:p.T2374T;1000g2015aug_all=0.211661;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076300;CLNALLELEID=54114;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3690;ExAC_nontcga_ALL=0.2825;ExAC_nontcga_AFR=0.1650;ExAC_nontcga_AMR=0.1780;ExAC_nontcga_EAS=0.0662;ExAC_nontcga_FIN=0.3304;ExAC_nontcga_NFE=0.3558;ExAC_nontcga_OTH=0.3040;ExAC_nontcga_SAS=0.2592;AF=0.2684;AF_popmax=0.3326;AF_male=0.2641;AF_female=0.2739;AF_raw=0.2687;AF_afr=0.1628;AF_sas=.;AF_amr=0.2217;AF_eas=0.0669;AF_nfe=0.3326;AF_fin=0.3296;AF_asj=0.4448;AF_oth=0.2860;non_topmed_AF_popmax=0.3280;non_neuro_AF_popmax=0.3317;non_cancer_AF_popmax=.;controls_AF_popmax=0.3155;Kaviar_AF=0.289957;Kaviar_AC=44828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.934879;ALLELE_END;VINYL_score=1 GT 1|0 1|1 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|1 0|0 0|1 1|0 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 0|1 0|1 0|1 0|1 1|0 1|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|1 1|1 1|0 0|1 1|1 1|0 1|0 0|0 0|0 +6 7584876 rs201863784 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21814;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5584T:p.L1862F,DSP:NM_001319034:exon24:c.C6052T:p.L2018F,DSP:NM_004415:exon24:c.C7381T:p.L2461F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201863784;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.442;MutationTaster_pred=D;MutationAssessor_score=2.43;MutationAssessor_score_rankscore=0.707;MutationAssessor_pred=M;FATHMM_score=-3.23;FATHMM_converted_rankscore=0.934;FATHMM_pred=D;PROVEAN_score=-1.78;PROVEAN_converted_rankscore=0.514;PROVEAN_pred=N;VEST3_score=0.535;VEST3_rankscore=0.592;MetaSVM_score=0.049;MetaSVM_rankscore=0.832;MetaSVM_pred=D;MetaLR_score=0.736;MetaLR_rankscore=0.910;MetaLR_pred=D;M-CAP_score=0.139;M-CAP_rankscore=0.823;M-CAP_pred=D;REVEL_score=0.647;REVEL_rankscore=0.868;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.363;CADD_raw_rankscore=0.726;CADD_phred=25.9;DANN_score=0.998;DANN_rankscore=0.893;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_rankscore=0.497;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.451;Eigen-PC-raw=0.452;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=4.83;GERP++_RS_rankscore=0.617;phyloP100way_vertebrate=4.149;phyloP100way_vertebrate_rankscore=0.576;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=11.088;SiPhy_29way_logOdds_rankscore=0.471;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.423e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.943321;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 7585670 rs11558731 C A 100 PASS AC=9;AF=0.0239617;AN=214;NS=2504;DP=17024;EAS_AF=0;AMR_AF=0.0447;AFR_AF=0.0023;EUR_AF=0.0706;SAS_AF=0.0153;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C6378A:p.R2126R,DSP:NM_001319034:exon24:c.C6846A:p.R2282R,DSP:NM_004415:exon24:c.C8175A:p.R2725R;1000g2015aug_all=0.0239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558731;CLNALLELEID=54128;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0633;ExAC_nontcga_ALL=0.0447;ExAC_nontcga_AFR=0.0097;ExAC_nontcga_AMR=0.0286;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0438;ExAC_nontcga_NFE=0.0680;ExAC_nontcga_OTH=0.0562;ExAC_nontcga_SAS=0.0188;AF=0.0415;AF_popmax=0.0611;AF_male=0.0432;AF_female=0.0395;AF_raw=0.0416;AF_afr=0.0108;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0611;AF_fin=0.0443;AF_asj=0.0938;AF_oth=0.0487;non_topmed_AF_popmax=0.0592;non_neuro_AF_popmax=0.0614;non_cancer_AF_popmax=.;controls_AF_popmax=0.0516;Kaviar_AF=0.0466618;Kaviar_AC=7214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0600254|N/A|ELF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.921658;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 7585967 rs2744380 G C 100 PASS AC=153;AF=0.709465;AN=214;NS=2504;DP=14877;EAS_AF=0.8046;AMR_AF=0.7478;AFR_AF=0.6051;EUR_AF=0.7127;SAS_AF=0.7219;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G;1000g2015aug_all=0.709465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2744380;CLNALLELEID=54134;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7173;ExAC_nontcga_ALL=0.7123;ExAC_nontcga_AFR=0.6416;ExAC_nontcga_AMR=0.7336;ExAC_nontcga_EAS=0.8070;ExAC_nontcga_FIN=0.6397;ExAC_nontcga_NFE=0.7106;ExAC_nontcga_OTH=0.6715;ExAC_nontcga_SAS=0.7270;AF=0.6721;AF_popmax=0.7974;AF_male=0.6729;AF_female=0.6711;AF_raw=0.6713;AF_afr=0.6303;AF_sas=.;AF_amr=0.7482;AF_eas=0.7974;AF_nfe=0.6834;AF_fin=0.6459;AF_asj=0.7759;AF_oth=0.6636;non_topmed_AF_popmax=0.7950;non_neuro_AF_popmax=0.7974;non_cancer_AF_popmax=.;controls_AF_popmax=0.7860;Kaviar_AF=0.139468;Kaviar_AC=21562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911143;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 1|1 1|0 0|0 1|1 1|1 1|0 0|0 0|1 1|0 1|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 0|1 1|0 1|0 0|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 +6 7586120 rs11558732 T A 100 PASS AC=2;AF=0.00319489;AN=214;NS=2504;DP=17113;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=DSP;GeneDetail.refGene=NM_001319034:c.*9T>A\x3bNM_004415:c.*9T>A\x3bNM_001008844:c.*9T>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11558732;CLNALLELEID=54017;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0109;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0073;ExAC_nontcga_NFE=0.0071;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0029;AF=0.0054;AF_popmax=0.0071;AF_male=0.0050;AF_female=0.0059;AF_raw=0.0054;AF_afr=0.0015;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0075;AF_asj=0.0276;AF_oth=0.0083;non_topmed_AF_popmax=0.0071;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0067;Kaviar_AF=0.0055821;Kaviar_AC=863;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000451|hsa-miR-150-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702399;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26087649 rs138378000 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=12196;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138378000;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=5.747e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000786464|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253332|N/A|SMARCA4|PAZAR,OREG1491899|N/A|EGR1|PAZAR,OREG1798393|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.351223;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26087856 rs2858993 T A 100 PASS AC=71;AF=0.39377;AN=214;NS=2504;DP=12512;EAS_AF=0.7143;AMR_AF=0.4524;AFR_AF=0.1309;EUR_AF=0.3976;SAS_AF=0.3732;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.39377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2858993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3658;AF_popmax=0.7121;AF_male=0.3661;AF_female=0.3654;AF_raw=0.3661;AF_afr=0.1818;AF_sas=.;AF_amr=0.4480;AF_eas=0.7121;AF_nfe=0.4142;AF_fin=0.4224;AF_asj=0.3345;AF_oth=0.4191;non_topmed_AF_popmax=0.7101;non_neuro_AF_popmax=0.7121;non_cancer_AF_popmax=.;controls_AF_popmax=0.7155;Kaviar_AF=0.397994;Kaviar_AC=10359;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.412879::-0.276992;Heart_Left_Ventricle=Heart_Left_Ventricle::0.400735::-0.23077;ENSEMBLReg=Name\x3dENSR00000786464|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1491899|N/A|EGR1|PAZAR,OREG1253332|N/A|SMARCA4|PAZAR,OREG1798393|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.260303;ALLELE_END;VINYL_score=3 GT 0|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 0|1 1|0 0|0 1|1 1|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|1 1|0 0|0 1|1 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|0 0|1 0|1 1|1 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|1 0|0 +6 26091047 rs142921463 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20950;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=LOC108783645;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142921463;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0009;AF=0.0002;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.355485;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091179 rs1799945 C G 100 PASS AC=38;AF=0.0730831;AN=214;NS=2504;DP=20637;EAS_AF=0.0288;AMR_AF=0.1153;AFR_AF=0.0113;EUR_AF=0.172;SAS_AF=0.0706;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;1000g2015aug_all=0.0730831;GWAS=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;ORegAnno_REGULATORY_P=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;avsnp150=rs1799945;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.142;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.161;Polyphen2_HVAR_rankscore=0.609;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_converted_rankscore=0.139;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-2.42;FATHMM_converted_rankscore=0.886;FATHMM_pred=D;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.569;VEST3_rankscore=0.641;MetaSVM_score=0.103;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_rankscore=0.871;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.315;REVEL_rankscore=0.641;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.570;CADD_raw_rankscore=0.612;CADD_phred=24.4;DANN_score=0.985;DANN_rankscore=0.418;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.214;Eigen-PC-raw=-0.258;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=1.868;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.744;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=6.685;SiPhy_29way_logOdds_rankscore=0.222;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000124564.13|ENSG00000010704.14|ENSG00000010704.14|ENSG00000272462.2|ENSG00000180573.8|ENSG00000181315.6|ENSG00000010704.14|ENSG00000010704.14;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1024;ExAC_nontcga_AFR=0.0271;ExAC_nontcga_AMR=0.0949;ExAC_nontcga_EAS=0.0341;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1334;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0781;AF=0.0995;AF_popmax=0.1452;AF_male=0.0968;AF_female=0.1029;AF_raw=0.0996;AF_afr=0.0270;AF_sas=.;AF_amr=0.0969;AF_eas=0.0270;AF_nfe=0.1452;AF_fin=0.1022;AF_asj=0.1069;AF_oth=0.1273;non_topmed_AF_popmax=0.1422;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738438;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;1000g2015aug_all=0.0730831;GWAS=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;ORegAnno_REGULATORY_P=rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976;avsnp150=rs1799945;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.142;Polyphen2_HDIV_rankscore=0.622;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.161;Polyphen2_HVAR_rankscore=0.609;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_converted_rankscore=0.139;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=-2.42;FATHMM_converted_rankscore=0.886;FATHMM_pred=D;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.569;VEST3_rankscore=0.641;MetaSVM_score=0.103;MetaSVM_rankscore=0.842;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_rankscore=0.871;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.315;REVEL_rankscore=0.641;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.570;CADD_raw_rankscore=0.612;CADD_phred=24.4;DANN_score=0.985;DANN_rankscore=0.418;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_rankscore=0.137;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.214;Eigen-PC-raw=-0.258;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.320;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=1.868;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.744;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=6.685;SiPhy_29way_logOdds_rankscore=0.222;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000124564.13|ENSG00000010704.14|ENSG00000010704.14|ENSG00000272462.2|ENSG00000180573.8|ENSG00000181315.6|ENSG00000010704.14|ENSG00000010704.14;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1513;ExAC_nontcga_ALL=0.1024;ExAC_nontcga_AFR=0.0271;ExAC_nontcga_AMR=0.0949;ExAC_nontcga_EAS=0.0341;ExAC_nontcga_FIN=0.1031;ExAC_nontcga_NFE=0.1334;ExAC_nontcga_OTH=0.1254;ExAC_nontcga_SAS=0.0781;AF=0.0995;AF_popmax=0.1452;AF_male=0.0968;AF_female=0.1029;AF_raw=0.0996;AF_afr=0.0270;AF_sas=.;AF_amr=0.0969;AF_eas=0.0270;AF_nfe=0.1452;AF_fin=0.1022;AF_asj=0.1069;AF_oth=0.1273;non_topmed_AF_popmax=0.1422;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1435;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738438;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|1 0|0 +6 26091185 rs1800730 A T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=20230;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800730;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_converted_rankscore=0.174;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-2.7;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.627;VEST3_rankscore=0.657;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_rankscore=0.930;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.972;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.992;DANN_rankscore=0.547;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_rankscore=0.348;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.551;Eigen-PC-raw=0.473;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.347;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=4.13;GERP++_RS_rankscore=0.475;phyloP100way_vertebrate=5.096;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.645;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0010;AF=0.0101;AF_popmax=0.0137;AF_male=0.0104;AF_female=0.0097;AF_raw=0.0101;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0137;AF_fin=0.0193;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765894;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800730;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_converted_rankscore=0.174;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=3.59;MutationAssessor_score_rankscore=0.938;MutationAssessor_pred=H;FATHMM_score=-2.7;FATHMM_converted_rankscore=0.905;FATHMM_pred=D;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.611;PROVEAN_pred=D;VEST3_score=0.627;VEST3_rankscore=0.657;MetaSVM_score=0.653;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_rankscore=0.930;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.549;REVEL_rankscore=0.815;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.972;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.992;DANN_rankscore=0.547;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_rankscore=0.348;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.551;Eigen-PC-raw=0.473;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.347;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=4.13;GERP++_RS_rankscore=0.475;phyloP100way_vertebrate=5.096;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=7.645;SiPhy_29way_logOdds_rankscore=0.273;Interpro_domain=MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0095;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0195;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0010;AF=0.0101;AF_popmax=0.0137;AF_male=0.0104;AF_female=0.0097;AF_raw=0.0101;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0137;AF_fin=0.0193;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.765894;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091309 rs199988202 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20952;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.T317C:p.M106T,HFE:NM_001300749:exon2:c.T317C:p.M106T,HFE:NM_139003:exon2:c.T317C:p.M106T,HFE:NM_139004:exon2:c.T317C:p.M106T,HFE:NM_139006:exon2:c.T317C:p.M106T,HFE:NM_139009:exon2:c.T248C:p.M83T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199988202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.064;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.041;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_score_rankscore=0.765;MutationAssessor_pred=M;FATHMM_score=-2.53;FATHMM_converted_rankscore=0.894;FATHMM_pred=D;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.700;MetaSVM_score=0.651;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.123;M-CAP_rankscore=0.805;M-CAP_pred=D;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.831;CADD_raw_rankscore=0.517;CADD_phred=23.4;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.788;fathmm-MKL_coding_rankscore=0.386;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.596;Eigen-PC-raw=0.547;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.391;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=0.564;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.837;SiPhy_29way_logOdds_rankscore=0.457;Interpro_domain=MHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757263;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.T317C:p.M106T,HFE:NM_001300749:exon2:c.T317C:p.M106T,HFE:NM_139003:exon2:c.T317C:p.M106T,HFE:NM_139004:exon2:c.T317C:p.M106T,HFE:NM_139006:exon2:c.T317C:p.M106T,HFE:NM_139009:exon2:c.T248C:p.M83T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199988202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.064;SIFT_converted_rankscore=0.538;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.873;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=P;LRT_score=0.041;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_score_rankscore=0.765;MutationAssessor_pred=M;FATHMM_score=-2.53;FATHMM_converted_rankscore=0.894;FATHMM_pred=D;PROVEAN_score=-3.14;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.695;VEST3_rankscore=0.700;MetaSVM_score=0.651;MetaSVM_rankscore=0.926;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_rankscore=0.917;MetaLR_pred=D;M-CAP_score=0.123;M-CAP_rankscore=0.805;M-CAP_pred=D;REVEL_score=0.411;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.831;CADD_raw_rankscore=0.517;CADD_phred=23.4;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.788;fathmm-MKL_coding_rankscore=0.386;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.596;Eigen-PC-raw=0.547;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.391;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=0.564;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=10.837;SiPhy_29way_logOdds_rankscore=0.457;Interpro_domain=MHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.757263;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26091336 rs2071303 T C 100 PASS AC=75;AF=0.426717;AN=214;NS=2504;DP=21412;EAS_AF=0.629;AMR_AF=0.4222;AFR_AF=0.379;EUR_AF=0.3658;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.426717;GWAS=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;ORegAnno_REGULATORY_P=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;avsnp150=rs2071303;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.3356;ExAC_nontcga_ALL=0.3705;ExAC_nontcga_AFR=0.3736;ExAC_nontcga_AMR=0.4139;ExAC_nontcga_EAS=0.6873;ExAC_nontcga_FIN=0.3539;ExAC_nontcga_NFE=0.3174;ExAC_nontcga_OTH=0.3804;ExAC_nontcga_SAS=0.3696;AF=0.3619;AF_popmax=0.6569;AF_male=0.3656;AF_female=0.3573;AF_raw=0.3625;AF_afr=0.3732;AF_sas=.;AF_amr=0.4155;AF_eas=0.6569;AF_nfe=0.3210;AF_fin=0.3716;AF_asj=0.3448;AF_oth=0.3656;non_topmed_AF_popmax=0.6556;non_neuro_AF_popmax=0.6569;non_cancer_AF_popmax=.;controls_AF_popmax=0.6560;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.669660;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.426717;GWAS=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;ORegAnno_REGULATORY_P=rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258;avsnp150=rs2071303;CLNALLELEID=134671;CLNDN=Hereditary_hemochromatosis|not_specified;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.014;esp6500siv2_ea=0.3356;ExAC_nontcga_ALL=0.3705;ExAC_nontcga_AFR=0.3736;ExAC_nontcga_AMR=0.4139;ExAC_nontcga_EAS=0.6873;ExAC_nontcga_FIN=0.3539;ExAC_nontcga_NFE=0.3174;ExAC_nontcga_OTH=0.3804;ExAC_nontcga_SAS=0.3696;AF=0.3619;AF_popmax=0.6569;AF_male=0.3656;AF_female=0.3573;AF_raw=0.3625;AF_afr=0.3732;AF_sas=.;AF_amr=0.4155;AF_eas=0.6569;AF_nfe=0.3210;AF_fin=0.3716;AF_asj=0.3448;AF_oth=0.3656;non_topmed_AF_popmax=0.6556;non_neuro_AF_popmax=0.6569;non_cancer_AF_popmax=.;controls_AF_popmax=0.6560;Kaviar_AF=0.363973;Kaviar_AC=56271;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.669660;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|1 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 0|1 0|1 +6 26092865 rs807209 C G 100 PASS AC=1;AF=0.0425319;AN=214;NS=2504;DP=22002;EAS_AF=0.001;AMR_AF=0.0144;AFR_AF=0.1483;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0425319;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs807209;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.1309;ExAC_nontcga_AMR=0.0095;ExAC_nontcga_EAS=0.0038;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0017;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0005;AF=0.0377;AF_popmax=0.1314;AF_male=0.0367;AF_female=0.0391;AF_raw=0.0378;AF_afr=0.1314;AF_sas=.;AF_amr=0.0130;AF_eas=0.0006;AF_nfe=0.0013;AF_fin=0;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.1317;non_neuro_AF_popmax=0.1291;non_cancer_AF_popmax=.;controls_AF_popmax=0.1275;Kaviar_AF=0.0127359;Kaviar_AC=1969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.349569;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093125 rs140080192 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=19787;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0082;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140080192;CLNALLELEID=302313;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.353;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=2.52;FATHMM_converted_rankscore=0.142;FATHMM_pred=T;PROVEAN_score=-2.72;PROVEAN_converted_rankscore=0.727;PROVEAN_pred=D;VEST3_score=0.505;VEST3_rankscore=0.549;MetaSVM_score=-1.148;MetaSVM_rankscore=0.011;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.303;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.419;fathmm-MKL_coding_rankscore=0.265;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=0.963;phyloP100way_vertebrate_rankscore=0.287;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0247;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712262;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140080192;CLNALLELEID=302313;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.025;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.353;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_score_rankscore=0.618;MutationAssessor_pred=M;FATHMM_score=2.52;FATHMM_converted_rankscore=0.142;FATHMM_pred=T;PROVEAN_score=-2.72;PROVEAN_converted_rankscore=0.727;PROVEAN_pred=D;VEST3_score=0.505;VEST3_rankscore=0.549;MetaSVM_score=-1.148;MetaSVM_rankscore=0.011;MetaSVM_pred=T;MetaLR_score=0.075;MetaLR_rankscore=0.303;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.163;REVEL_rankscore=0.425;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.999;CADD_raw_rankscore=0.825;CADD_phred=27.8;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.419;fathmm-MKL_coding_rankscore=0.265;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.498;Eigen-PC-raw=0.399;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=0.963;phyloP100way_vertebrate_rankscore=0.287;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.937;phastCons20way_mammalian_rankscore=0.410;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0044;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0247;AF=0.0006;AF_popmax=0.0013;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0032859;Kaviar_AC=508;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.712262;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093141 rs1800562 G A 100 PASS AC=6;AF=0.0125799;AN=214;NS=2504;DP=19430;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0023;EUR_AF=0.0427;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;1000g2015aug_all=0.0125799;GWAS=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;ORegAnno_REGULATORY_P=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;avsnp150=rs1800562;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=4.395;MutationAssessor_score_rankscore=0.987;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=-8.93;PROVEAN_converted_rankscore=0.991;PROVEAN_pred=D;VEST3_score=0.989;VEST3_rankscore=0.996;MetaSVM_score=1.073;MetaSVM_rankscore=0.987;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.872;REVEL_rankscore=0.962;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.270;CADD_raw_rankscore=0.712;CADD_phred=25.7;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.877;Eigen-PC-raw=0.745;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=5.226;phyloP100way_vertebrate_rankscore=0.649;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.895;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold|Immunoglobulin/major_histocompatibility_complex,_conserved_site\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0098;ExAC_nontcga_AMR=0.0113;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0322;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0022;AF=0.0383;AF_popmax=0.0595;AF_male=0.0373;AF_female=0.0394;AF_raw=0.0383;AF_afr=0.0099;AF_sas=.;AF_amr=0.0297;AF_eas=0.0006;AF_nfe=0.0595;AF_fin=0.0357;AF_asj=0.0207;AF_oth=0.0377;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0604;non_cancer_AF_popmax=.;controls_AF_popmax=0.0472;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.419245;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809052;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;1000g2015aug_all=0.0125799;GWAS=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;ORegAnno_REGULATORY_P=rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068;avsnp150=rs1800562;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=4.395;MutationAssessor_score_rankscore=0.987;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_converted_rankscore=0.953;FATHMM_pred=D;PROVEAN_score=-8.93;PROVEAN_converted_rankscore=0.991;PROVEAN_pred=D;VEST3_score=0.989;VEST3_rankscore=0.996;MetaSVM_score=1.073;MetaSVM_rankscore=0.987;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.872;REVEL_rankscore=0.962;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.270;CADD_raw_rankscore=0.712;CADD_phred=25.7;DANN_score=0.994;DANN_rankscore=0.647;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.627;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.877;Eigen-PC-raw=0.745;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.624;integrated_fitCons_score_rankscore=0.395;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=5.226;phyloP100way_vertebrate_rankscore=0.649;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.895;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=14.751;SiPhy_29way_logOdds_rankscore=0.690;Interpro_domain=Immunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold\x3bImmunoglobulin_C1-set|Immunoglobulin-like_domain|Immunoglobulin-like_fold|Immunoglobulin/major_histocompatibility_complex,_conserved_site\x3bMHC_class_I_alpha_chain,_alpha1_alpha2_domains|MHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein\x3bMHC_class_I-like_antigen_recognition-like|MHC_classes_I/II-like_antigen_recognition_protein;GTEx_V6p_gene=ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0641;ExAC_nontcga_ALL=0.0303;ExAC_nontcga_AFR=0.0098;ExAC_nontcga_AMR=0.0113;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0322;ExAC_nontcga_NFE=0.0504;ExAC_nontcga_OTH=0.0202;ExAC_nontcga_SAS=0.0022;AF=0.0383;AF_popmax=0.0595;AF_male=0.0373;AF_female=0.0394;AF_raw=0.0383;AF_afr=0.0099;AF_sas=.;AF_amr=0.0297;AF_eas=0.0006;AF_nfe=0.0595;AF_fin=0.0357;AF_asj=0.0207;AF_oth=0.0377;non_topmed_AF_popmax=0.0544;non_neuro_AF_popmax=0.0604;non_cancer_AF_popmax=.;controls_AF_popmax=0.0472;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0661765::-0.419245;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.809052;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093236 rs1800758 G A 100 PASS AC=16;AF=0.13139;AN=214;NS=2504;DP=19244;EAS_AF=0.0665;AMR_AF=0.1354;AFR_AF=0.1513;EUR_AF=0.0994;SAS_AF=0.2014;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.13139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800758;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1291;ExAC_nontcga_ALL=0.1342;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1198;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.1288;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.2118;AF=0.1248;AF_popmax=0.1439;AF_male=0.1252;AF_female=0.1242;AF_raw=0.1248;AF_afr=0.1439;AF_sas=.;AF_amr=0.1244;AF_eas=0.05;AF_nfe=0.1255;AF_fin=0.1025;AF_asj=0.1910;AF_oth=0.1236;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1507;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.119702;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.13139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800758;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1291;ExAC_nontcga_ALL=0.1342;ExAC_nontcga_AFR=0.1499;ExAC_nontcga_AMR=0.1198;ExAC_nontcga_EAS=0.0423;ExAC_nontcga_FIN=0.0961;ExAC_nontcga_NFE=0.1288;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.2118;AF=0.1248;AF_popmax=0.1439;AF_male=0.1252;AF_female=0.1242;AF_raw=0.1248;AF_afr=0.1439;AF_sas=.;AF_amr=0.1244;AF_eas=0.05;AF_nfe=0.1255;AF_fin=0.1025;AF_asj=0.1910;AF_oth=0.1236;non_topmed_AF_popmax=0.1444;non_neuro_AF_popmax=0.1490;non_cancer_AF_popmax=.;controls_AF_popmax=0.1507;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.119702;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 +6 26093297 rs2794717 G A 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=19369;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2794717;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0068;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0172;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0004;AF=0.0090;AF_popmax=0.0110;AF_male=0.0090;AF_female=0.0090;AF_raw=0.0090;AF_afr=0.0023;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0224;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0110;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.006727;Kaviar_AC=1040;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.191714;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26093303 rs1800708 T C 100 PASS AC=13;AF=0.21865;AN=214;NS=2504;DP=19610;EAS_AF=0.5506;AMR_AF=0.2133;AFR_AF=0.0764;EUR_AF=0.0865;SAS_AF=0.2086;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.21865;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800708;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0628;ExAC_nontcga_ALL=0.1546;ExAC_nontcga_AFR=0.0908;ExAC_nontcga_AMR=0.2483;ExAC_nontcga_EAS=0.5782;ExAC_nontcga_FIN=0.1998;ExAC_nontcga_NFE=0.0694;ExAC_nontcga_OTH=0.1643;ExAC_nontcga_SAS=0.1878;AF=0.1198;AF_popmax=0.5522;AF_male=0.1223;AF_female=0.1166;AF_raw=0.1199;AF_afr=0.0944;AF_sas=.;AF_amr=0.2193;AF_eas=0.5522;AF_nfe=0.0653;AF_fin=0.2055;AF_asj=0.0724;AF_oth=0.1388;non_topmed_AF_popmax=0.5501;non_neuro_AF_popmax=0.5522;non_cancer_AF_popmax=.;controls_AF_popmax=0.5495;Kaviar_AF=0.137831;Kaviar_AC=21309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.397956;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26094346 rs571478148 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20911;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571478148;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.229116;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 26094367 rs1572982 G A 100 PASS AC=91;AF=0.590655;AN=214;NS=2504;DP=20151;EAS_AF=0.6954;AMR_AF=0.5793;AFR_AF=0.6377;EUR_AF=0.4722;SAS_AF=0.5491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.590655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1572982;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4708;ExAC_nontcga_ALL=0.5162;ExAC_nontcga_AFR=0.6149;ExAC_nontcga_AMR=0.5421;ExAC_nontcga_EAS=0.7278;ExAC_nontcga_FIN=0.4500;ExAC_nontcga_NFE=0.4518;ExAC_nontcga_OTH=0.5331;ExAC_nontcga_SAS=0.5817;AF=0.5168;AF_popmax=0.7053;AF_male=0.5229;AF_female=0.5092;AF_raw=0.5166;AF_afr=0.6101;AF_sas=.;AF_amr=0.5579;AF_eas=0.7053;AF_nfe=0.4531;AF_fin=0.4752;AF_asj=0.5451;AF_oth=0.4972;non_topmed_AF_popmax=0.7051;non_neuro_AF_popmax=0.7053;non_cancer_AF_popmax=.;controls_AF_popmax=0.7035;Kaviar_AF=0.504263;Kaviar_AC=77960;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.797290;ALLELE_END;VINYL_score=-1 GT 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|0 0|0 1|0 1|0 0|0 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|1 1|0 0|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 0|0 1|1 0|0 1|1 0|1 0|0 0|1 1|1 0|1 +6 26094515 rs62625349 C T 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=20692;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0325;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=HFE;GeneDetail.refGene=NM_139008:c.*61C>T\x3bNM_139007:c.*61C>T\x3bNM_139006:c.*61C>T\x3bNM_139004:c.*61C>T\x3bNM_139003:c.*61C>T\x3bNM_000410:c.*61C>T\x3bNM_139011:c.*61C>T\x3bNM_139010:c.*61C>T\x3bNM_139009:c.*61C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62625349;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0077;AF_popmax=0.0266;AF_male=0.0074;AF_female=0.0080;AF_raw=0.0077;AF_afr=0.0266;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0269;non_neuro_AF_popmax=0.0227;non_cancer_AF_popmax=.;controls_AF_popmax=0.0249;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76538403 rs1280052 G A 100 PASS AC=110;AF=0.687899;AN=214;NS=2504;DP=18301;EAS_AF=0.7708;AMR_AF=0.6931;AFR_AF=0.7935;EUR_AF=0.5219;SAS_AF=0.6268;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.687899;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1280052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6091;AF_popmax=0.7644;AF_male=0.6085;AF_female=0.6097;AF_raw=0.6085;AF_afr=0.7494;AF_sas=.;AF_amr=0.6981;AF_eas=0.7644;AF_nfe=0.5244;AF_fin=0.5631;AF_asj=0.5660;AF_oth=0.5507;non_topmed_AF_popmax=0.7638;non_neuro_AF_popmax=0.7644;non_cancer_AF_popmax=.;controls_AF_popmax=0.7565;Kaviar_AF=0.111072;Kaviar_AC=17172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|1 1|0 1|1 0|1 0|0 0|0 1|1 1|0 1|1 0|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 0|1 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 1|0 1|1 1|0 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|0 0|1 1|1 1|0 1|1 0|0 1|0 0|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 0|0 1|0 1|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|0 +6 76540088 rs200967297 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14543;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200967297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.557e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.185e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76545684 rs12210963 T C 100 PASS AC=33;AF=0.102636;AN=214;NS=2504;DP=17008;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1104;EUR_AF=0.165;SAS_AF=0.0941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12210963;CLNALLELEID=54331;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1521;ExAC_nontcga_ALL=0.1197;ExAC_nontcga_AFR=0.1121;ExAC_nontcga_AMR=0.0726;ExAC_nontcga_EAS=0.0277;ExAC_nontcga_FIN=0.1285;ExAC_nontcga_NFE=0.1494;ExAC_nontcga_OTH=0.1652;ExAC_nontcga_SAS=0.0971;AF=0.1315;AF_popmax=0.1481;AF_male=0.1328;AF_female=0.1299;AF_raw=0.1315;AF_afr=0.1183;AF_sas=.;AF_amr=0.0825;AF_eas=0.0289;AF_nfe=0.1481;AF_fin=0.1427;AF_asj=0.1285;AF_oth=0.1507;non_topmed_AF_popmax=0.1457;non_neuro_AF_popmax=0.1468;non_cancer_AF_popmax=.;controls_AF_popmax=0.1403;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.846450;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76550237 rs12216518 A G 100 PASS AC=33;AF=0.102835;AN=214;NS=2504;DP=17301;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1112;EUR_AF=0.165;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.102835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12216518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1314;AF_popmax=0.1476;AF_male=0.1327;AF_female=0.1297;AF_raw=0.1315;AF_afr=0.1187;AF_sas=.;AF_amr=0.0825;AF_eas=0.0288;AF_nfe=0.1476;AF_fin=0.1428;AF_asj=0.1276;AF_oth=0.1519;non_topmed_AF_popmax=0.1453;non_neuro_AF_popmax=0.1463;non_cancer_AF_popmax=.;controls_AF_popmax=0.1401;Kaviar_AF=0.0248897;Kaviar_AC=3848;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76554593 rs7760587 G A 100 PASS AC=209;AF=0.997804;AN=214;NS=2504;DP=14370;EAS_AF=1;AMR_AF=0.9986;AFR_AF=1;EUR_AF=0.9901;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7760587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9868;ExAC_nontcga_ALL=0.9910;ExAC_nontcga_AFR=0.9972;ExAC_nontcga_AMR=0.9962;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9940;ExAC_nontcga_NFE=0.9845;ExAC_nontcga_OTH=0.9957;ExAC_nontcga_SAS=0.9996;AF=0.9924;AF_popmax=1;AF_male=0.9920;AF_female=0.9930;AF_raw=0.9924;AF_afr=0.9987;AF_sas=.;AF_amr=0.9976;AF_eas=1;AF_nfe=0.9875;AF_fin=0.9934;AF_asj=1;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.069541;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 76558200 rs199798449 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15886;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon11:c.G1030A:p.V344I,MYO6:NM_004999:exon11:c.G1030A:p.V344I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199798449;CLNALLELEID=54299;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.158;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_score_rankscore=0.191;MutationAssessor_pred=N;FATHMM_score=-0.16;FATHMM_converted_rankscore=0.654;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_converted_rankscore=0.212;PROVEAN_pred=N;VEST3_score=0.585;VEST3_rankscore=0.614;MetaSVM_score=-0.865;MetaSVM_rankscore=0.509;MetaSVM_pred=T;MetaLR_score=0.198;MetaLR_rankscore=0.554;MetaLR_pred=T;M-CAP_score=0.031;M-CAP_rankscore=0.534;M-CAP_pred=D;REVEL_score=0.241;REVEL_rankscore=0.551;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.506;CADD_raw_rankscore=0.479;CADD_phred=23.1;DANN_score=0.999;DANN_rankscore=0.953;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.868;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.497;Eigen-PC-raw=0.561;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.644;integrated_fitCons_score_rankscore=0.439;integrated_confidence_value=0;GERP++_RS=5.37;GERP++_RS_rankscore=0.769;phyloP100way_vertebrate=9.571;phyloP100way_vertebrate_rankscore=0.973;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.969;phastCons20way_mammalian_rankscore=0.458;SiPhy_29way_logOdds=19.119;SiPhy_29way_logOdds_rankscore=0.933;Interpro_domain=Myosin_head,_motor_domain|P-loop_containing_nucleoside_triphosphate_hydrolase;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0004;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0046;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.377391;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76558260 rs144408691 A AT 100 PASS AC=7;AF=0.139577;AN=214;NS=2504;DP=15587;EAS_AF=0.3065;AMR_AF=0.0764;AFR_AF=0.1203;EUR_AF=0.0686;SAS_AF=0.1115;AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139577;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144408691;CLNALLELEID=252536;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0583;ExAC_nontcga_ALL=0.0911;ExAC_nontcga_AFR=0.1240;ExAC_nontcga_AMR=0.0769;ExAC_nontcga_EAS=0.2928;ExAC_nontcga_FIN=0.0769;ExAC_nontcga_NFE=0.0587;ExAC_nontcga_OTH=0.0641;ExAC_nontcga_SAS=0.1011;AF=0.0929;AF_popmax=0.3048;AF_male=0.0936;AF_female=0.0920;AF_raw=0.0931;AF_afr=0.1239;AF_sas=.;AF_amr=0.0629;AF_eas=0.3048;AF_nfe=0.0577;AF_fin=0.0913;AF_asj=0.0517;AF_oth=0.0803;non_topmed_AF_popmax=0.3032;non_neuro_AF_popmax=0.3048;non_cancer_AF_popmax=.;controls_AF_popmax=0.3084;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.410949;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76564953 rs2273857 A G 100 PASS AC=2;AF=0.0265575;AN=214;NS=2504;DP=16743;EAS_AF=0.1071;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0169;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon12:c.A1176G:p.T392T,MYO6:NM_004999:exon12:c.A1176G:p.T392T;1000g2015aug_all=0.0265575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2273857;CLNALLELEID=54301;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.1027;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0089;ExAC_nontcga_SAS=0.0044;AF=0.0155;AF_popmax=0.1065;AF_male=0.0157;AF_female=0.0152;AF_raw=0.0155;AF_afr=0.0034;AF_sas=.;AF_amr=0.0071;AF_eas=0.1065;AF_nfe=0.0147;AF_fin=0.0109;AF_asj=0;AF_oth=0.0175;non_topmed_AF_popmax=0.1059;non_neuro_AF_popmax=0.1065;non_cancer_AF_popmax=.;controls_AF_popmax=0.0974;Kaviar_AF=0.0164552;Kaviar_AC=2544;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000796121|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559899;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76566810 rs144031818 A G 100 PASS AC=3;AF=0.00199681;AN=214;NS=2504;DP=17510;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144031818;CLNALLELEID=54303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0042;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.109e-05;AF=0.0021;AF_popmax=0.0038;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0038;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76572240 rs543048460 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17283;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543048460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76572389 rs201670695 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16877;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon16:c.A1623G:p.Q541Q,MYO6:NM_004999:exon16:c.A1623G:p.Q541Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201670695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.425e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.270533;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76576290 rs11756446 C T 100 PASS AC=14;AF=0.0289537;AN=214;NS=2504;DP=17803;EAS_AF=0.0129;AMR_AF=0.0331;AFR_AF=0.0023;EUR_AF=0.0577;SAS_AF=0.0491;AA=c|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon17:c.C1722T:p.D574D,MYO6:NM_004999:exon17:c.C1722T:p.D574D;1000g2015aug_all=0.0289537;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11756446;CLNALLELEID=54307;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0609;ExAC_nontcga_ALL=0.0516;ExAC_nontcga_AFR=0.0084;ExAC_nontcga_AMR=0.0258;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0646;ExAC_nontcga_NFE=0.0627;ExAC_nontcga_OTH=0.0648;ExAC_nontcga_SAS=0.0668;AF=0.0421;AF_popmax=0.0593;AF_male=0.0418;AF_female=0.0424;AF_raw=0.0421;AF_afr=0.0085;AF_sas=.;AF_amr=0.0318;AF_eas=0.0122;AF_nfe=0.0593;AF_fin=0.0645;AF_asj=0.0448;AF_oth=0.0452;non_topmed_AF_popmax=0.0596;non_neuro_AF_popmax=0.0596;non_cancer_AF_popmax=.;controls_AF_popmax=0.0608;Kaviar_AF=0.0509178;Kaviar_AC=7872;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.138922;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76595634 rs13211391 C A 100 PASS AC=33;AF=0.1252;AN=214;NS=2504;DP=16535;EAS_AF=0.0387;AMR_AF=0.1023;AFR_AF=0.1952;EUR_AF=0.166;SAS_AF=0.0941;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.1252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13211391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1515;AF_popmax=0.1899;AF_male=0.1535;AF_female=0.1491;AF_raw=0.1515;AF_afr=0.1899;AF_sas=.;AF_amr=0.0875;AF_eas=0.0288;AF_nfe=0.1481;AF_fin=0.1424;AF_asj=0.1276;AF_oth=0.1547;non_topmed_AF_popmax=0.1898;non_neuro_AF_popmax=0.1865;non_cancer_AF_popmax=.;controls_AF_popmax=0.1919;Kaviar_AF=0.0258664;Kaviar_AC=3999;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.128717;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 +6 76596728 rs2295936 C T 100 PASS AC=71;AF=0.147764;AN=214;NS=2504;DP=16631;EAS_AF=0.0516;AMR_AF=0.1816;AFR_AF=0.0091;EUR_AF=0.2992;SAS_AF=0.2546;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295936;CLNALLELEID=54314;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3349;ExAC_nontcga_ALL=0.2453;ExAC_nontcga_AFR=0.0514;ExAC_nontcga_AMR=0.1392;ExAC_nontcga_EAS=0.0519;ExAC_nontcga_FIN=0.2478;ExAC_nontcga_NFE=0.3198;ExAC_nontcga_OTH=0.2601;ExAC_nontcga_SAS=0.2667;AF=0.2206;AF_popmax=0.3233;AF_male=0.2194;AF_female=0.2223;AF_raw=0.2204;AF_afr=0.0568;AF_sas=.;AF_amr=0.1853;AF_eas=0.06;AF_nfe=0.3233;AF_fin=0.2342;AF_asj=0.3034;AF_oth=0.2694;non_topmed_AF_popmax=0.3204;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3024;Kaviar_AF=0.251691;Kaviar_AC=38912;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.307985::-0.165475;Heart_Left_Ventricle=Heart_Left_Ventricle::0.288603::0.201427;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 76599787 rs146682372 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16236;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon26:c.C2672T:p.T891M,MYO6:NM_004999:exon26:c.C2672T:p.T891M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146682372;CLNALLELEID=308798;CLNDN=Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.899;Polyphen2_HVAR_rankscore=0.620;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.349;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=2.645;MutationAssessor_score_rankscore=0.776;MutationAssessor_pred=M;FATHMM_score=2.15;FATHMM_converted_rankscore=0.892;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_converted_rankscore=0.526;PROVEAN_pred=N;VEST3_score=0.473;VEST3_rankscore=0.589;MetaSVM_score=0.419;MetaSVM_rankscore=0.894;MetaSVM_pred=D;MetaLR_score=0.718;MetaLR_rankscore=0.903;MetaLR_pred=D;M-CAP_score=0.054;M-CAP_rankscore=0.657;M-CAP_pred=D;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.313;CADD_raw_rankscore=0.457;CADD_phred=22.9;DANN_score=0.998;DANN_rankscore=0.923;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.639;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.477;Eigen-PC-raw=0.474;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=3.883;phyloP100way_vertebrate_rankscore=0.556;phyloP20way_mammalian=0.888;phyloP20way_mammalian_rankscore=0.391;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.718;phastCons20way_mammalian_rankscore=0.314;SiPhy_29way_logOdds=20.143;SiPhy_29way_logOdds_rankscore=0.981;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.956e-05;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.689e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0013;AF_male=0.0002;AF_female=7.311e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.077154;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76607983 rs720862 T A 100 PASS AC=84;AF=0.348842;AN=214;NS=2504;DP=13441;EAS_AF=0.3938;AMR_AF=0.5418;AFR_AF=0.1551;EUR_AF=0.3827;SAS_AF=0.3926;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.348842;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs720862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3389;AF_popmax=0.5704;AF_male=0.3348;AF_female=0.3441;AF_raw=0.3390;AF_afr=0.1854;AF_sas=.;AF_amr=0.5704;AF_eas=0.375;AF_nfe=0.3908;AF_fin=0.4008;AF_asj=0.4479;AF_oth=0.3810;non_topmed_AF_popmax=0.575;non_neuro_AF_popmax=0.5474;non_cancer_AF_popmax=.;controls_AF_popmax=0.5410;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.355263::-0.152423;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 1|0 1|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|1 0|0 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 1|1 1|0 0|1 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|1 1|0 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|0 1|0 0|0 1|1 1|1 1|0 1|0 1|1 1|1 0|0 0|1 1|0 +6 76608251 rs56298506 T C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=17491;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56298506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0013;AF_male=0.0006;AF_female=0.0008;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0013;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.332260;ALLELE_END;VINYL_score=3 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76617511 rs141652215 A ATGTGTGTG 100 PASS AC=53;AF=0.138778;AN=214;NS=2504;DP=18129;EAS_AF=0.0665;AMR_AF=0.1412;AFR_AF=0.0809;EUR_AF=0.2117;SAS_AF=0.2147;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.138778;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141652215;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2391;AF_popmax=0.3128;AF_male=0.2384;AF_female=0.2399;AF_raw=0.2367;AF_afr=0.1435;AF_sas=.;AF_amr=0.1970;AF_eas=0.0777;AF_nfe=0.3128;AF_fin=0.2248;AF_asj=0.3022;AF_oth=0.2620;non_topmed_AF_popmax=0.3087;non_neuro_AF_popmax=0.3122;non_cancer_AF_popmax=.;controls_AF_popmax=0.2940;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1603746|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 76618299 rs189411232 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon30:c.A3298G:p.N1100D,MYO6:NM_004999:exon32:c.A3367G:p.N1123D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189411232;CLNALLELEID=229526;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.328;SIFT_converted_rankscore=0.132;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=-2.44;FATHMM_converted_rankscore=0.889;FATHMM_pred=D;PROVEAN_score=-1.33;PROVEAN_converted_rankscore=0.332;PROVEAN_pred=N;VEST3_score=0.277;VEST3_rankscore=0.460;MetaSVM_score=-0.019;MetaSVM_rankscore=0.819;MetaSVM_pred=T;MetaLR_score=0.540;MetaLR_rankscore=0.831;MetaLR_pred=D;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.283;REVEL_rankscore=0.605;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.531;CADD_raw_rankscore=0.365;CADD_phred=19.66;DANN_score=0.990;DANN_rankscore=0.489;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.717;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.231;Eigen-PC-raw=0.385;GenoCanyon_score=0.881;GenoCanyon_score_rankscore=0.256;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=7.123;phyloP100way_vertebrate_rankscore=0.766;phyloP20way_mammalian=1.136;phyloP20way_mammalian_rankscore=0.884;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.470;SiPhy_29way_logOdds_rankscore=0.839;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.482e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.097e-05;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.02e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.596500;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76624538 rs41269323 G A 100 PASS AC=5;AF=0.00559105;AN=214;NS=2504;DP=20451;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.0143;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon33:c.G3598A:p.D1200N,MYO6:NM_004999:exon35:c.G3667A:p.D1223N;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41269323;CLNALLELEID=54326;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.65;MutationAssessor_score_rankscore=0.778;MutationAssessor_pred=M;FATHMM_score=-2.86;FATHMM_converted_rankscore=0.917;FATHMM_pred=D;PROVEAN_score=-4.45;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.048;VEST3_rankscore=0.044;MetaSVM_score=0.838;MetaSVM_rankscore=0.949;MetaSVM_pred=D;MetaLR_score=0.863;MetaLR_rankscore=0.954;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.615;REVEL_rankscore=0.852;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.271;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.998;DANN_rankscore=0.870;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.903;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.949;Eigen-PC-raw=0.947;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=9.571;phyloP100way_vertebrate_rankscore=0.973;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.947;phastCons20way_mammalian_rankscore=0.422;SiPhy_29way_logOdds=20.644;SiPhy_29way_logOdds_rankscore=0.996;Interpro_domain=Myosin_VI,_cargo_binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0047;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0145;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0072;AF=0.0069;AF_popmax=0.0094;AF_male=0.0061;AF_female=0.0080;AF_raw=0.0069;AF_afr=0.0017;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0091;AF_fin=0.0101;AF_asj=0.0345;AF_oth=0.0092;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0092;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0094953;Kaviar_AC=1468;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.624047;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 76624741 rs12606 C T 100 PASS AC=71;AF=0.146965;AN=214;NS=2504;DP=18316;EAS_AF=0.0516;AMR_AF=0.1816;AFR_AF=0.0091;EUR_AF=0.2992;SAS_AF=0.2505;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=MYO6;GeneDetail.refGene=NM_001300899:c.*12C>T\x3bNM_004999:c.*12C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.146965;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12606;CLNALLELEID=54297;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3343;ExAC_nontcga_ALL=0.2838;ExAC_nontcga_AFR=0.0642;ExAC_nontcga_AMR=0.1843;ExAC_nontcga_EAS=0.0663;ExAC_nontcga_FIN=0.2889;ExAC_nontcga_NFE=0.3597;ExAC_nontcga_OTH=0.3107;ExAC_nontcga_SAS=0.2857;AF=0.2199;AF_popmax=0.3223;AF_male=0.2186;AF_female=0.2215;AF_raw=0.2201;AF_afr=0.0564;AF_sas=.;AF_amr=0.1865;AF_eas=0.0596;AF_nfe=0.3223;AF_fin=0.2334;AF_asj=0.3034;AF_oth=0.2694;non_topmed_AF_popmax=0.3197;non_neuro_AF_popmax=0.3205;non_cancer_AF_popmax=.;controls_AF_popmax=0.3025;Kaviar_AF=0.249841;Kaviar_AC=38626;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.308712::-0.168664;Heart_Left_Ventricle=Heart_Left_Ventricle::0.288603::0.201427;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000430|hsa-miR-138-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.069782;ALLELE_END;VINYL_score=4 GT 1|0 0|1 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 0|0 1|0 1|0 1|0 0|1 0|1 0|0 1|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 +6 112430850 rs111530471 C T 100 PASS AC=2;AF=0.0463259;AN=214;NS=2504;DP=20618;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.1672;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111530471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0036;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0016;AF_afr=0.0036;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0017;Kaviar_AF=0.0107192;Kaviar_AC=279;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001114943|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.554391;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112435264 rs3734290 T G 100 PASS AC=55;AF=0.240016;AN=214;NS=2504;DP=17817;EAS_AF=0.3472;AMR_AF=0.2205;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1442;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734290;CLNALLELEID=53572;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2706;ExAC_nontcga_ALL=0.2352;ExAC_nontcga_AFR=0.2363;ExAC_nontcga_AMR=0.1763;ExAC_nontcga_EAS=0.3233;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2671;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.1403;AF=0.2497;AF_popmax=0.3307;AF_male=0.2525;AF_female=0.2462;AF_raw=0.2514;AF_afr=0.2381;AF_sas=.;AF_amr=0.1899;AF_eas=0.3307;AF_nfe=0.2617;AF_fin=0.2045;AF_asj=0.3;AF_oth=0.2352;non_topmed_AF_popmax=0.3289;non_neuro_AF_popmax=0.3307;non_cancer_AF_popmax=.;controls_AF_popmax=0.3330;Kaviar_AF=0.241316;Kaviar_AC=37308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.367788;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435273 rs3734289 A C 100 PASS AC=55;AF=0.240016;AN=214;NS=2504;DP=17637;EAS_AF=0.3472;AMR_AF=0.2205;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1442;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240016;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734289;CLNALLELEID=53573;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=0.2716;ExAC_nontcga_ALL=0.2351;ExAC_nontcga_AFR=0.2359;ExAC_nontcga_AMR=0.1764;ExAC_nontcga_EAS=0.3233;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2671;ExAC_nontcga_OTH=0.2017;ExAC_nontcga_SAS=0.1403;AF=0.2497;AF_popmax=0.3305;AF_male=0.2524;AF_female=0.2464;AF_raw=0.2514;AF_afr=0.2380;AF_sas=.;AF_amr=0.1899;AF_eas=0.3305;AF_nfe=0.2620;AF_fin=0.2047;AF_asj=0.3;AF_oth=0.2333;non_topmed_AF_popmax=0.3287;non_neuro_AF_popmax=0.3305;non_cancer_AF_popmax=.;controls_AF_popmax=0.3326;Kaviar_AF=0.241323;Kaviar_AC=37309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277984;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435335 rs200177134 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon38:c.C5270T:p.P1757L,LAMA4:NM_001105207:exon38:c.C5249T:p.P1750L,LAMA4:NM_002290:exon38:c.C5249T:p.P1750L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200177134;CLNALLELEID=53571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_rankscore=0.754;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.855;MutationAssessor_score_rankscore=0.493;MutationAssessor_pred=L;FATHMM_score=-1.39;FATHMM_converted_rankscore=0.804;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_converted_rankscore=0.897;PROVEAN_pred=D;VEST3_score=0.833;VEST3_rankscore=0.821;MetaSVM_score=0.157;MetaSVM_rankscore=0.852;MetaSVM_pred=D;MetaLR_score=0.591;MetaLR_rankscore=0.854;MetaLR_pred=D;M-CAP_score=0.064;M-CAP_rankscore=0.694;M-CAP_pred=D;REVEL_score=0.659;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.024;CADD_raw_rankscore=0.938;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.957;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.628;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.847;Eigen-PC-raw=0.864;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.632;integrated_fitCons_score_rankscore=0.406;integrated_confidence_value=0;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=8.692;phyloP100way_vertebrate_rankscore=0.909;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=20.324;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.978e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0023;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.359547;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112435444 rs111835795 G GAAT 100 PASS AC=55;AF=0.240815;AN=214;NS=2504;DP=18307;EAS_AF=0.3472;AMR_AF=0.2219;AFR_AF=0.239;EUR_AF=0.2406;SAS_AF=0.1472;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111835795;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2699;ExAC_nontcga_ALL=0.2341;ExAC_nontcga_AFR=0.2350;ExAC_nontcga_AMR=0.1758;ExAC_nontcga_EAS=0.3204;ExAC_nontcga_FIN=0.2030;ExAC_nontcga_NFE=0.2655;ExAC_nontcga_OTH=0.2038;ExAC_nontcga_SAS=0.1422;AF=0.2511;AF_popmax=0.3346;AF_male=0.2536;AF_female=0.2480;AF_raw=0.2517;AF_afr=0.2379;AF_sas=.;AF_amr=0.1910;AF_eas=0.3346;AF_nfe=0.2639;AF_fin=0.2045;AF_asj=0.3034;AF_oth=0.2381;non_topmed_AF_popmax=0.3320;non_neuro_AF_popmax=0.3346;non_cancer_AF_popmax=.;controls_AF_popmax=0.3374;Kaviar_AF=0.0071603;Kaviar_AC=1107;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.804649;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435796 rs6917142 G C 100 PASS AC=56;AF=0.240815;AN=214;NS=2504;DP=17959;EAS_AF=0.3462;AMR_AF=0.2219;AFR_AF=0.2383;EUR_AF=0.2445;SAS_AF=0.1452;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.240815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6917142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2545;AF_popmax=0.3415;AF_male=0.2569;AF_female=0.2516;AF_raw=0.2544;AF_afr=0.2408;AF_sas=.;AF_amr=0.1934;AF_eas=0.3415;AF_nfe=0.2680;AF_fin=0.2051;AF_asj=0.3103;AF_oth=0.2408;non_topmed_AF_popmax=0.3382;non_neuro_AF_popmax=0.3415;non_cancer_AF_popmax=.;controls_AF_popmax=0.3447;Kaviar_AF=0.0498441;Kaviar_AC=7706;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435807 rs11969913 G T 100 PASS AC=56;AF=0.227236;AN=214;NS=2504;DP=17875;EAS_AF=0.3502;AMR_AF=0.2161;AFR_AF=0.1868;EUR_AF=0.2445;SAS_AF=0.1452;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.227236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11969913;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2428;AF_popmax=0.3463;AF_male=0.2450;AF_female=0.2401;AF_raw=0.2428;AF_afr=0.1983;AF_sas=.;AF_amr=0.1910;AF_eas=0.3463;AF_nfe=0.2680;AF_fin=0.2051;AF_asj=0.3103;AF_oth=0.2385;non_topmed_AF_popmax=0.3430;non_neuro_AF_popmax=0.3463;non_cancer_AF_popmax=.;controls_AF_popmax=0.3444;Kaviar_AF=0.0493525;Kaviar_AC=7630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.406150;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112435912 rs1050353 A T 100 PASS AC=59;AF=0.281749;AN=214;NS=2504;DP=17779;EAS_AF=0.3571;AMR_AF=0.2392;AFR_AF=0.3419;EUR_AF=0.2634;SAS_AF=0.1718;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon37:c.T5160A:p.V1720V,LAMA4:NM_001105207:exon37:c.T5139A:p.V1713V,LAMA4:NM_002290:exon37:c.T5139A:p.V1713V;1000g2015aug_all=0.281749;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050353;CLNALLELEID=53568;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2894;ExAC_nontcga_ALL=0.2637;ExAC_nontcga_AFR=0.3344;ExAC_nontcga_AMR=0.1903;ExAC_nontcga_EAS=0.3369;ExAC_nontcga_FIN=0.2310;ExAC_nontcga_NFE=0.2908;ExAC_nontcga_OTH=0.2305;ExAC_nontcga_SAS=0.1643;AF=0.2942;AF_popmax=0.3488;AF_male=0.2972;AF_female=0.2904;AF_raw=0.2941;AF_afr=0.3397;AF_sas=.;AF_amr=0.2182;AF_eas=0.3488;AF_nfe=0.2854;AF_fin=0.2215;AF_asj=0.3345;AF_oth=0.2578;non_topmed_AF_popmax=0.3457;non_neuro_AF_popmax=0.3488;non_cancer_AF_popmax=.;controls_AF_popmax=0.3480;Kaviar_AF=0.268043;Kaviar_AC=41440;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.275632;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112438912 rs3216857 GA G 100 PASS AC=31;AF=0.229233;AN=214;NS=2504;DP=22488;EAS_AF=0.3919;AMR_AF=0.2709;AFR_AF=0.0393;EUR_AF=0.1869;SAS_AF=0.3323;AA=A|A|-|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.229233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3216857;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1688;ExAC_nontcga_ALL=0.2340;ExAC_nontcga_AFR=0.0633;ExAC_nontcga_AMR=0.3430;ExAC_nontcga_EAS=0.3782;ExAC_nontcga_FIN=0.3480;ExAC_nontcga_NFE=0.1778;ExAC_nontcga_OTH=0.2853;ExAC_nontcga_SAS=0.3232;AF=0.1903;AF_popmax=0.3578;AF_male=0.1849;AF_female=0.1971;AF_raw=0.1906;AF_afr=0.0600;AF_sas=.;AF_amr=0.2700;AF_eas=0.3578;AF_nfe=0.2038;AF_fin=0.3445;AF_asj=0.1862;AF_oth=0.2491;non_topmed_AF_popmax=0.3595;non_neuro_AF_popmax=0.3578;non_cancer_AF_popmax=.;controls_AF_popmax=0.3662;Kaviar_AF=0.0059055;Kaviar_AC=913;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0743312|N/A|JUNB|JASPAR,OREG0770517|N/A|JUND|JASPAR,OREG0642785|N/A|FOS|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.088779;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112439071 rs397516733 G C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18417;EAS_AF=0.001;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon35:c.C4852G:p.L1618V,LAMA4:NM_001105207:exon35:c.C4831G:p.L1611V,LAMA4:NM_002290:exon35:c.C4831G:p.L1611V;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516733;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.569;SIFT_converted_rankscore=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.408;MutationTaster_pred=D;MutationAssessor_score=1.48;MutationAssessor_score_rankscore=0.373;MutationAssessor_pred=L;FATHMM_score=1.93;FATHMM_converted_rankscore=0.229;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.593;VEST3_rankscore=0.822;MetaSVM_score=-1.134;MetaSVM_rankscore=0.016;MetaSVM_pred=T;MetaLR_score=0.079;MetaLR_rankscore=0.314;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.247;M-CAP_pred=T;REVEL_score=0.240;REVEL_rankscore=0.549;MutPred_score=0.498;MutPred_rankscore=0.589;CADD_raw=3.989;CADD_raw_rankscore=0.536;CADD_phred=23.6;DANN_score=0.994;DANN_rankscore=0.621;fathmm-MKL_coding_score=0.755;fathmm-MKL_coding_rankscore=0.367;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.421;Eigen-PC-raw=0.421;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.442;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=3.257;phyloP100way_vertebrate_rankscore=0.510;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.476;phastCons20way_mammalian_rankscore=0.267;SiPhy_29way_logOdds=19.609;SiPhy_29way_logOdds_rankscore=0.956;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=3.754e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.581503;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440311 rs201221521 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18570;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201221521;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.923160;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440380 rs200500729 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17957;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.A4800G:p.G1600G,LAMA4:NM_001105207:exon34:c.A4779G:p.G1593G,LAMA4:NM_002290:exon34:c.A4779G:p.G1593G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200500729;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.306844;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112440464 rs35679345 G A 100 PASS AC=2;AF=0.0666933;AN=214;NS=2504;DP=19510;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.2405;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.C4716T:p.L1572L,LAMA4:NM_001105207:exon34:c.C4695T:p.L1565L,LAMA4:NM_002290:exon34:c.C4695T:p.L1565L;1000g2015aug_all=0.0666933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35679345;CLNALLELEID=53563;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0020;ExAC_nontcga_ALL=0.0210;ExAC_nontcga_AFR=0.2253;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0636;AF_popmax=0.2244;AF_male=0.0650;AF_female=0.0618;AF_raw=0.0637;AF_afr=0.2244;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0.0069;AF_oth=0.0129;non_topmed_AF_popmax=0.2244;non_neuro_AF_popmax=0.2298;non_cancer_AF_popmax=.;controls_AF_popmax=0.2409;Kaviar_AF=0.0197734;Kaviar_AC=3057;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.380826;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112441727 rs148829144 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19052;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148829144;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.147e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.304e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.469218;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112451012 rs371544384 A AT 100 PASS AC=1;AF=0.00579073;AN=214;NS=2504;DP=18216;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0256;AA=TTTTT|TTTTT|TTTTTT|insertion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371544384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0026;AF_popmax=0.0033;AF_male=0.0027;AF_female=0.0025;AF_raw=0.0026;AF_afr=0.0007;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0046;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0034;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0008837;Kaviar_AC=23;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.847505;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112457383 rs1050349 G C 100 PASS AC=55;AF=0.210463;AN=214;NS=2504;DP=19414;EAS_AF=0.3601;AMR_AF=0.2104;AFR_AF=0.1233;EUR_AF=0.2316;SAS_AF=0.1524;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.C3356G:p.P1119R,LAMA4:NM_001105207:exon25:c.C3335G:p.P1112R,LAMA4:NM_002290:exon25:c.C3335G:p.P1112R;1000g2015aug_all=0.210463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050349;CLNALLELEID=53544;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.227;SIFT_converted_rankscore=0.546;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.32;MutationAssessor_score_rankscore=0.666;MutationAssessor_pred=M;FATHMM_score=-1.32;FATHMM_converted_rankscore=0.798;FATHMM_pred=T;PROVEAN_score=-3.37;PROVEAN_converted_rankscore=0.666;PROVEAN_pred=D;VEST3_score=0.777;VEST3_rankscore=0.769;MetaSVM_score=-0.080;MetaSVM_rankscore=0.806;MetaSVM_pred=T;MetaLR_score=0.567;MetaLR_rankscore=0.843;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.653;REVEL_rankscore=0.871;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.097;CADD_raw_rankscore=0.550;CADD_phred=23.7;DANN_score=0.998;DANN_rankscore=0.848;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.966;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.734;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=8.854;phyloP100way_vertebrate_rankscore=0.918;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=20.337;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000203778.3|ENSG00000074935.9|ENSG00000203778.3|ENSG00000203778.3|ENSG00000010810.13|ENSG00000203778.3|ENSG00000010810.13|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000203778.3|ENSG00000112769.14|ENSG00000203778.3|ENSG00000203778.3|ENSG00000112761.14|ENSG00000203778.3|ENSG00000112761.14|ENSG00000203778.3|ENSG00000203778.3;GTEx_V6p_tissue=Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2603;ExAC_nontcga_ALL=0.2212;ExAC_nontcga_AFR=0.1415;ExAC_nontcga_AMR=0.1682;ExAC_nontcga_EAS=0.3481;ExAC_nontcga_FIN=0.1708;ExAC_nontcga_NFE=0.2549;ExAC_nontcga_OTH=0.1859;ExAC_nontcga_SAS=0.1513;AF=0.2150;AF_popmax=0.3472;AF_male=0.2189;AF_female=0.2101;AF_raw=0.2155;AF_afr=0.1449;AF_sas=.;AF_amr=0.1820;AF_eas=0.3472;AF_nfe=0.2529;AF_fin=0.1658;AF_asj=0.2931;AF_oth=0.2123;non_topmed_AF_popmax=0.3443;non_neuro_AF_popmax=0.3472;non_cancer_AF_popmax=.;controls_AF_popmax=0.3515;Kaviar_AF=0.222753;Kaviar_AC=34438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345281;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112457390 rs2032567 C T 100 PASS AC=142;AF=0.839856;AN=214;NS=2504;DP=19316;EAS_AF=0.873;AMR_AF=0.83;AFR_AF=0.8805;EUR_AF=0.7087;SAS_AF=0.8926;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S;1000g2015aug_all=0.839856;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2032567;CLNALLELEID=53543;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_converted_rankscore=0.229;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.218;MutationTaster_pred=P;MutationAssessor_score=-0.255;MutationAssessor_score_rankscore=0.038;MutationAssessor_pred=N;FATHMM_score=-1.16;FATHMM_converted_rankscore=0.781;FATHMM_pred=T;PROVEAN_score=1.43;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.068;MetaSVM_score=-1.082;MetaSVM_rankscore=0.070;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.358;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.217;REVEL_rankscore=0.516;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.280;CADD_raw_rankscore=0.335;CADD_phred=18.04;DANN_score=0.189;DANN_rankscore=0.006;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_rankscore=0.164;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.636;Eigen-PC-raw=-0.397;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=3.503;phyloP100way_vertebrate_rankscore=0.529;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=12.152;SiPhy_29way_logOdds_rankscore=0.532;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000112761.14;GTEx_V6p_tissue=Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6965;ExAC_nontcga_ALL=0.7736;ExAC_nontcga_AFR=0.8672;ExAC_nontcga_AMR=0.8851;ExAC_nontcga_EAS=0.8549;ExAC_nontcga_FIN=0.7327;ExAC_nontcga_NFE=0.7013;ExAC_nontcga_OTH=0.7781;ExAC_nontcga_SAS=0.8630;AF=0.7731;AF_popmax=0.8726;AF_male=0.7750;AF_female=0.7708;AF_raw=0.7726;AF_afr=0.8666;AF_sas=.;AF_amr=0.8726;AF_eas=0.8671;AF_nfe=0.7201;AF_fin=0.7193;AF_asj=0.7793;AF_oth=0.7330;non_topmed_AF_popmax=0.8753;non_neuro_AF_popmax=0.8671;non_cancer_AF_popmax=.;controls_AF_popmax=0.8682;Kaviar_AF=0.713031;Kaviar_AC=110236;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.345281;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|0 0|1 +6 112457471 rs2032568 G A 100 PASS AC=142;AF=0.840455;AN=214;NS=2504;DP=19915;EAS_AF=0.873;AMR_AF=0.83;AFR_AF=0.8828;EUR_AF=0.7087;SAS_AF=0.8926;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.840455;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2032568;CLNALLELEID=53542;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6959;ExAC_nontcga_ALL=0.7740;ExAC_nontcga_AFR=0.8718;ExAC_nontcga_AMR=0.8854;ExAC_nontcga_EAS=0.8548;ExAC_nontcga_FIN=0.7314;ExAC_nontcga_NFE=0.7012;ExAC_nontcga_OTH=0.7775;ExAC_nontcga_SAS=0.8629;AF=0.7745;AF_popmax=0.8729;AF_male=0.7762;AF_female=0.7723;AF_raw=0.7742;AF_afr=0.8725;AF_sas=.;AF_amr=0.8729;AF_eas=0.8671;AF_nfe=0.7195;AF_fin=0.7196;AF_asj=0.7793;AF_oth=0.7320;non_topmed_AF_popmax=0.8756;non_neuro_AF_popmax=0.8732;non_cancer_AF_popmax=.;controls_AF_popmax=0.8756;Kaviar_AF=0.725036;Kaviar_AC=112092;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.986079;ALLELE_END;VINYL_score=1 GT 1|1 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 1|1 0|0 0|0 1|1 0|0 1|1 1|1 0|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 1|0 1|0 1|0 1|1 1|1 0|1 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|0 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 0|1 1|0 0|1 +6 112460365 rs41289902 C T 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=19498;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon24:c.G3239A:p.R1080Q,LAMA4:NM_001105207:exon24:c.G3218A:p.R1073Q,LAMA4:NM_002290:exon24:c.G3218A:p.R1073Q;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41289902;CLNALLELEID=53541;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.86;MutationAssessor_score_rankscore=0.494;MutationAssessor_pred=L;FATHMM_score=-1.78;FATHMM_converted_rankscore=0.837;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.843;VEST3_rankscore=0.830;MetaSVM_score=0.129;MetaSVM_rankscore=0.847;MetaSVM_pred=D;MetaLR_score=0.611;MetaLR_rankscore=0.862;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.671;REVEL_rankscore=0.880;MutPred_score=.;MutPred_rankscore=.;CADD_raw=8.015;CADD_raw_rankscore=0.957;CADD_phred=35;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.635;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.773;Eigen-PC-raw=0.804;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=5.98;GERP++_RS_rankscore=0.971;phyloP100way_vertebrate=7.378;phyloP100way_vertebrate_rankscore=0.788;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.443;SiPhy_29way_logOdds_rankscore=0.991;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0061;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0224;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0027;AF=0.0101;AF_popmax=0.0136;AF_male=0.0101;AF_female=0.0102;AF_raw=0.0101;AF_afr=0.0015;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0230;AF_asj=0.0034;AF_oth=0.0064;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0099158;Kaviar_AC=1533;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.767722;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112460511 rs80168443 C T 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20080;EAS_AF=0.006;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80168443;CLNALLELEID=368794;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0056;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0005;AF_popmax=0.0064;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0064;AF_nfe=0.0003;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0064;non_cancer_AF_popmax=.;controls_AF_popmax=0.0055;Kaviar_AF=0.000608;Kaviar_AC=94;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.702303;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112460541 rs2072019 G A 100 PASS AC=60;AF=0.300519;AN=214;NS=2504;DP=20915;EAS_AF=0.4286;AMR_AF=0.2291;AFR_AF=0.3896;EUR_AF=0.2445;SAS_AF=0.1564;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.300519;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072019;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.27;ExAC_nontcga_ALL=0.2550;ExAC_nontcga_AFR=0.3917;ExAC_nontcga_AMR=0.1800;ExAC_nontcga_EAS=0.4216;ExAC_nontcga_FIN=0.1784;ExAC_nontcga_NFE=0.2625;ExAC_nontcga_OTH=0.2052;ExAC_nontcga_SAS=0.1604;AF=0.2958;AF_popmax=0.4240;AF_male=0.3002;AF_female=0.2903;AF_raw=0.2958;AF_afr=0.4040;AF_sas=.;AF_amr=0.2028;AF_eas=0.4240;AF_nfe=0.2592;AF_fin=0.1730;AF_asj=0.3034;AF_oth=0.2298;non_topmed_AF_popmax=0.4201;non_neuro_AF_popmax=0.4240;non_cancer_AF_popmax=.;controls_AF_popmax=0.4297;Kaviar_AF=0.255223;Kaviar_AC=39458;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.303309::0.220899;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.040131;ALLELE_END;VINYL_score=2 GT 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|1 +6 112461135 rs200713694 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=20924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200713694;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0032;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0016235;Kaviar_AC=251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 112463253 rs531051864 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20892;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531051864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.913721;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112463419 rs144123257 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19185;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon20:c.G2569A:p.A857T,LAMA4:NM_001105207:exon20:c.G2548A:p.A850T,LAMA4:NM_002290:exon20:c.G2548A:p.A850T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144123257;CLNALLELEID=178225;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.323;SIFT_converted_rankscore=0.134;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.299;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_converted_rankscore=0.316;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_converted_rankscore=0.453;FATHMM_pred=T;PROVEAN_score=-2.19;PROVEAN_converted_rankscore=0.493;PROVEAN_pred=N;VEST3_score=0.042;VEST3_rankscore=0.026;MetaSVM_score=-1.081;MetaSVM_rankscore=0.072;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.159;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.157;M-CAP_pred=T;REVEL_score=0.112;REVEL_rankscore=0.321;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.299;CADD_raw_rankscore=0.220;CADD_phred=12.26;DANN_score=0.876;DANN_rankscore=0.168;fathmm-MKL_coding_score=0.608;fathmm-MKL_coding_rankscore=0.310;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.388;Eigen-PC-raw=-0.288;GenoCanyon_score=0.996;GenoCanyon_score_rankscore=0.343;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.14;GERP++_RS_rankscore=0.350;phyloP100way_vertebrate=1.209;phyloP100way_vertebrate_rankscore=0.317;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.878;phastCons20way_mammalian_rankscore=0.368;SiPhy_29way_logOdds=4.138;SiPhy_29way_logOdds_rankscore=0.096;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain|Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.475e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.372e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=7.184e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.626879;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112463545 rs150691496 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18165;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150691496;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0004;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0003816;Kaviar_AC=59;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112466086 rs142559688 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=19276;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon19:c.G2403A:p.T801T,LAMA4:NM_001105207:exon19:c.G2382A:p.T794T,LAMA4:NM_002290:exon19:c.G2382A:p.T794T;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142559688;CLNALLELEID=176849;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0020;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.265517;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112469480 rs145489423 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17132;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon18:c.G2232A:p.T744T,LAMA4:NM_001105207:exon18:c.G2211A:p.T737T,LAMA4:NM_002290:exon18:c.G2211A:p.T737T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145489423;CLNALLELEID=508812;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.712e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.204e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.554e-05;AF_popmax=0.0002;AF_male=5.722e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.514261;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112471688 rs3734286 G C 100 PASS AC=64;AF=0.3127;AN=214;NS=2504;DP=19611;EAS_AF=0.4196;AMR_AF=0.2392;AFR_AF=0.4319;EUR_AF=0.2575;SAS_AF=0.1503;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2797;ExAC_nontcga_ALL=0.2620;ExAC_nontcga_AFR=0.4273;ExAC_nontcga_AMR=0.1861;ExAC_nontcga_EAS=0.4195;ExAC_nontcga_FIN=0.1739;ExAC_nontcga_NFE=0.2703;ExAC_nontcga_OTH=0.2118;ExAC_nontcga_SAS=0.1571;AF=0.3073;AF_popmax=0.4379;AF_male=0.3116;AF_female=0.3019;AF_raw=0.3075;AF_afr=0.4379;AF_sas=.;AF_amr=0.2111;AF_eas=0.4218;AF_nfe=0.2636;AF_fin=0.1651;AF_asj=0.3414;AF_oth=0.2403;non_topmed_AF_popmax=0.4366;non_neuro_AF_popmax=0.4529;non_cancer_AF_popmax=.;controls_AF_popmax=0.4571;Kaviar_AF=0.266303;Kaviar_AC=41171;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.316176::0.206351;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1790553|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.042535;ALLELE_END;VINYL_score=3 GT 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 1|1 +6 112476210 rs2277084 T C 100 PASS AC=63;AF=0.3127;AN=214;NS=2504;DP=19275;EAS_AF=0.4206;AMR_AF=0.2406;AFR_AF=0.4183;EUR_AF=0.2575;SAS_AF=0.1667;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.3127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277084;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3057;AF_popmax=0.4286;AF_male=0.3104;AF_female=0.2997;AF_raw=0.3056;AF_afr=0.4286;AF_sas=.;AF_amr=0.2156;AF_eas=0.4227;AF_nfe=0.2644;AF_fin=0.1680;AF_asj=0.3345;AF_oth=0.2431;non_topmed_AF_popmax=0.4275;non_neuro_AF_popmax=0.4425;non_cancer_AF_popmax=.;controls_AF_popmax=0.4459;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.314338::0.20265;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.535879;ALLELE_END;VINYL_score=2 GT 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|1 1|0 1|1 +6 112480041 rs3752577 A G 100 PASS AC=22;AF=0.091254;AN=214;NS=2504;DP=17123;EAS_AF=0.13;AMR_AF=0.1225;AFR_AF=0.028;EUR_AF=0.1034;SAS_AF=0.1022;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S;1000g2015aug_all=0.091254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3752577;CLNALLELEID=53518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0881;ExAC_nontcga_ALL=0.1053;ExAC_nontcga_AFR=0.0426;ExAC_nontcga_AMR=0.1417;ExAC_nontcga_EAS=0.0984;ExAC_nontcga_FIN=0.1841;ExAC_nontcga_NFE=0.0979;ExAC_nontcga_OTH=0.1297;ExAC_nontcga_SAS=0.1103;AF=0.1074;AF_popmax=0.1284;AF_male=0.1019;AF_female=0.1142;AF_raw=0.1075;AF_afr=0.0397;AF_sas=.;AF_amr=0.1102;AF_eas=0.0900;AF_nfe=0.1284;AF_fin=0.1829;AF_asj=0.0655;AF_oth=0.1439;non_topmed_AF_popmax=0.1420;non_neuro_AF_popmax=0.1304;non_cancer_AF_popmax=.;controls_AF_popmax=0.1856;Kaviar_AF=0.100413;Kaviar_AC=15524;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.214315;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112486397 rs138153075 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18440;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon13:c.C1633T:p.R545C,LAMA4:NM_001105207:exon13:c.C1612T:p.R538C,LAMA4:NM_002290:exon13:c.C1612T:p.R538C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138153075;CLNALLELEID=53516;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.093;SIFT_converted_rankscore=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.659;Polyphen2_HVAR_rankscore=0.509;Polyphen2_HVAR_pred=P;LRT_score=0.469;LRT_converted_rankscore=0.123;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=2.88;FATHMM_converted_rankscore=0.103;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_converted_rankscore=0.547;PROVEAN_pred=D;VEST3_score=0.375;VEST3_rankscore=0.636;MetaSVM_score=-1.012;MetaSVM_rankscore=0.263;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_rankscore=0.066;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.383;M-CAP_pred=T;REVEL_score=0.192;REVEL_rankscore=0.476;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.719;CADD_raw_rankscore=0.633;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.917;fathmm-MKL_coding_score=0.591;fathmm-MKL_coding_rankscore=0.306;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=-0.197;GenoCanyon_score=0.944;GenoCanyon_score_rankscore=0.276;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=3.153;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=6.096;SiPhy_29way_logOdds_rankscore=0.191;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0018;AF_popmax=0.0030;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0017;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0031;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0015782;Kaviar_AC=244;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.968811;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493774 rs34737104 C T 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=18269;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34737104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0053;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0012;AF=0.0027;AF_popmax=0.0059;AF_male=0.0026;AF_female=0.0028;AF_raw=0.0027;AF_afr=0.0017;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0029301;Kaviar_AC=453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493790 rs144948073 T C 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=18275;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144948073;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0004;AF_popmax=0.0007;AF_male=0.0004;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.068222;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112493872 rs1050348 A G 100 PASS AC=140;AF=0.758387;AN=214;NS=2504;DP=16113;EAS_AF=0.8135;AMR_AF=0.7205;AFR_AF=0.7799;EUR_AF=0.6501;SAS_AF=0.8108;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H;1000g2015aug_all=0.758387;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1050348;CLNALLELEID=53515;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_converted_rankscore=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.487;LRT_converted_rankscore=0.121;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_score_rankscore=0.008;MutationAssessor_pred=N;FATHMM_score=2.95;FATHMM_converted_rankscore=0.097;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_converted_rankscore=0.010;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.015;MetaSVM_score=-0.899;MetaSVM_rankscore=0.481;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.011;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.057;REVEL_rankscore=0.167;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.041;CADD_raw_rankscore=0.090;CADD_phred=2.212;DANN_score=0.117;DANN_rankscore=0.002;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.889;Eigen-PC-raw=-0.715;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.442;integrated_confidence_value=0;GERP++_RS=4.63;GERP++_RS_rankscore=0.570;phyloP100way_vertebrate=1.851;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.138;phyloP20way_mammalian_rankscore=0.222;phastCons100way_vertebrate=0.973;phastCons100way_vertebrate_rankscore=0.343;phastCons20way_mammalian=0.782;phastCons20way_mammalian_rankscore=0.331;SiPhy_29way_logOdds=4.881;SiPhy_29way_logOdds_rankscore=0.129;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=ENSG00000237234.2|ENSG00000112769.14;GTEx_V6p_tissue=Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6020;ExAC_nontcga_ALL=0.6691;ExAC_nontcga_AFR=0.7525;ExAC_nontcga_AMR=0.7148;ExAC_nontcga_EAS=0.8202;ExAC_nontcga_FIN=0.5664;ExAC_nontcga_NFE=0.5987;ExAC_nontcga_OTH=0.6657;ExAC_nontcga_SAS=0.7940;AF=0.6561;AF_popmax=0.8394;AF_male=0.6577;AF_female=0.6541;AF_raw=0.6561;AF_afr=0.7493;AF_sas=.;AF_amr=0.7358;AF_eas=0.8394;AF_nfe=0.6042;AF_fin=0.5578;AF_asj=0.6552;AF_oth=0.6365;non_topmed_AF_popmax=0.8406;non_neuro_AF_popmax=0.8394;non_cancer_AF_popmax=.;controls_AF_popmax=0.8385;Kaviar_AF=0.657656;Kaviar_AC=101675;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000802030|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.462924;ALLELE_END;VINYL_score=3.5 GT 1|1 0|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 0|1 0|1 0|0 0|1 1|1 +6 112496511 rs6917763 C A 100 PASS AC=6;AF=0.08127;AN=214;NS=2504;DP=17526;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.2769;EUR_AF=0.0139;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.08127;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6917763;CLNALLELEID=53510;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.0110;ExAC_nontcga_ALL=0.0323;ExAC_nontcga_AFR=0.2373;ExAC_nontcga_AMR=0.0166;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0155;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0104;AF=0.0692;AF_popmax=0.2229;AF_male=0.0707;AF_female=0.0672;AF_raw=0.0694;AF_afr=0.2229;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0058;AF_asj=0.0138;AF_oth=0.0221;non_topmed_AF_popmax=0.2219;non_neuro_AF_popmax=0.2237;non_cancer_AF_popmax=.;controls_AF_popmax=0.2272;Kaviar_AF=0.0308728;Kaviar_AC=4773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.590685;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112496690 rs73538515 G C 100 PASS AC=2;AF=0.0315495;AN=214;NS=2504;DP=19388;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1135;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0315495;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73538515;CLNALLELEID=53506;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0035;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0098;ExAC_nontcga_AFR=0.1072;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0001;AF=0.0288;AF_popmax=0.1017;AF_male=0.0286;AF_female=0.0291;AF_raw=0.0288;AF_afr=0.1017;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.1014;non_neuro_AF_popmax=0.1039;non_cancer_AF_popmax=.;controls_AF_popmax=0.1092;Kaviar_AF=0.009353;Kaviar_AC=1446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698308;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112499245 rs56948541 G A 100 PASS AC=2;AF=0.0329473;AN=214;NS=2504;DP=21132;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.1135;EUR_AF=0.004;SAS_AF=0.0072;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0329473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56948541;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0288;AF_popmax=0.1016;AF_male=0.0284;AF_female=0.0292;AF_raw=0.0288;AF_afr=0.1016;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.1013;non_neuro_AF_popmax=0.1038;non_cancer_AF_popmax=.;controls_AF_popmax=0.1090;Kaviar_AF=0.011065;Kaviar_AC=288;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.891877;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112506375 rs9374309 G A 100 PASS AC=111;AF=0.416933;AN=214;NS=2504;DP=15825;EAS_AF=0.5099;AMR_AF=0.5346;AFR_AF=0.118;EUR_AF=0.5129;SAS_AF=0.5429;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.416933;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9374309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3716;AF_popmax=0.5908;AF_male=0.3693;AF_female=0.3745;AF_raw=0.3715;AF_afr=0.1633;AF_sas=.;AF_amr=0.5908;AF_eas=0.5097;AF_nfe=0.4530;AF_fin=0.3837;AF_asj=0.5069;AF_oth=0.4435;non_topmed_AF_popmax=0.5963;non_neuro_AF_popmax=0.5686;non_cancer_AF_popmax=.;controls_AF_popmax=0.5610;Kaviar_AF=0.0901023;Kaviar_AC=13930;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.726170;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 0|1 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 1|1 0|0 1|0 1|0 1|1 0|0 1|0 0|0 0|0 1|1 1|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 1|0 0|1 1|1 0|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|0 1|0 1|1 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 0|0 0|1 1|1 +6 112506583 rs6908219 G T 100 PASS AC=168;AF=0.900559;AN=214;NS=2504;DP=19925;EAS_AF=0.9861;AMR_AF=0.8746;AFR_AF=0.9887;EUR_AF=0.7396;SAS_AF=0.8773;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.900559;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6908219;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7115;ExAC_nontcga_ALL=0.7949;ExAC_nontcga_AFR=0.9525;ExAC_nontcga_AMR=0.9088;ExAC_nontcga_EAS=0.9898;ExAC_nontcga_FIN=0.6475;ExAC_nontcga_NFE=0.7126;ExAC_nontcga_OTH=0.7795;ExAC_nontcga_SAS=0.8695;AF=0.7894;AF_popmax=0.9917;AF_male=0.7937;AF_female=0.7839;AF_raw=0.7893;AF_afr=0.9551;AF_sas=.;AF_amr=0.8892;AF_eas=0.9917;AF_nfe=0.7044;AF_fin=0.6478;AF_asj=0.8103;AF_oth=0.7436;non_topmed_AF_popmax=0.9914;non_neuro_AF_popmax=0.9917;non_cancer_AF_popmax=.;controls_AF_popmax=0.9902;Kaviar_AF=0.769654;Kaviar_AC=118990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|0 0|1 1|0 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|0 1|1 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 +6 112508745 rs141611768 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17719;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.C873T:p.I291I,LAMA4:NM_001105207:exon8:c.C852T:p.I284I,LAMA4:NM_002290:exon8:c.C852T:p.I284I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141611768;CLNALLELEID=501079;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.039803;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112508769 rs9387061 T G 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18546;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.A849C:p.A283A,LAMA4:NM_001105207:exon8:c.A828C:p.A276A,LAMA4:NM_002290:exon8:c.A828C:p.A276A;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9387061;CLNALLELEID=141771;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=0.9999;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.911056;Kaviar_AC=140851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206740;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 112508770 rs9400522 G T 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=18667;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.C848A:p.A283E,LAMA4:NM_001105207:exon8:c.C827A:p.A276E,LAMA4:NM_002290:exon8:c.C827A:p.A276E;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9400522;CLNALLELEID=141770;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=0.9999;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=1;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.91046;Kaviar_AC=140759;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206740;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 112512905 rs2072021 G A 100 PASS AC=28;AF=0.316893;AN=214;NS=2504;DP=18568;EAS_AF=0.2619;AMR_AF=0.1816;AFR_AF=0.6067;EUR_AF=0.1352;SAS_AF=0.2648;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T;1000g2015aug_all=0.316893;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072021;CLNALLELEID=53576;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1219;ExAC_nontcga_ALL=0.2013;ExAC_nontcga_AFR=0.5533;ExAC_nontcga_AMR=0.1337;ExAC_nontcga_EAS=0.2843;ExAC_nontcga_FIN=0.1913;ExAC_nontcga_NFE=0.1337;ExAC_nontcga_OTH=0.1888;ExAC_nontcga_SAS=0.2421;AF=0.2728;AF_popmax=0.5475;AF_male=0.2760;AF_female=0.2688;AF_raw=0.2727;AF_afr=0.5475;AF_sas=.;AF_amr=0.1403;AF_eas=0.2716;AF_nfe=0.1515;AF_fin=0.1930;AF_asj=0.1414;AF_oth=0.1913;non_topmed_AF_popmax=0.5468;non_neuro_AF_popmax=0.5488;non_cancer_AF_popmax=.;controls_AF_popmax=0.5561;Kaviar_AF=0.191201;Kaviar_AC=29560;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1309126|N/A|CEBPA|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.475759;ALLELE_END;VINYL_score=2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|1 1|0 0|0 1|0 1|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112522852 rs11757455 G A 100 PASS AC=14;AF=0.0309505;AN=214;NS=2504;DP=19937;EAS_AF=0;AMR_AF=0.0303;AFR_AF=0.0015;EUR_AF=0.0596;SAS_AF=0.0736;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon5:c.C460T:p.R154W,LAMA4:NM_001105207:exon5:c.C460T:p.R154W,LAMA4:NM_002290:exon5:c.C460T:p.R154W;1000g2015aug_all=0.0309505;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11757455;CLNALLELEID=53559;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.715;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.902;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=2.7;MutationAssessor_score_rankscore=0.793;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-5.14;PROVEAN_converted_rankscore=0.833;PROVEAN_pred=D;VEST3_score=0.739;VEST3_rankscore=0.736;MetaSVM_score=-0.225;MetaSVM_rankscore=0.770;MetaSVM_pred=T;MetaLR_score=0.348;MetaLR_rankscore=0.712;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.374;REVEL_rankscore=0.696;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.272;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.989;fathmm-MKL_coding_score=0.898;fathmm-MKL_coding_rankscore=0.503;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.614;Eigen-PC-raw=0.573;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=4.2;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=2.452;phyloP100way_vertebrate_rankscore=0.444;phyloP20way_mammalian=0.127;phyloP20way_mammalian_rankscore=0.214;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=14.056;SiPhy_29way_logOdds_rankscore=0.641;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0649;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0104;ExAC_nontcga_AMR=0.0275;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0373;ExAC_nontcga_NFE=0.0603;ExAC_nontcga_OTH=0.0663;ExAC_nontcga_SAS=0.0990;AF=0.0428;AF_popmax=0.0645;AF_male=0.0430;AF_female=0.0425;AF_raw=0.0428;AF_afr=0.0129;AF_sas=.;AF_amr=0.0330;AF_eas=0.0006;AF_nfe=0.0645;AF_fin=0.0411;AF_asj=0.0276;AF_oth=0.0515;non_topmed_AF_popmax=0.0626;non_neuro_AF_popmax=0.0653;non_cancer_AF_popmax=.;controls_AF_popmax=0.0633;Kaviar_AF=0.0517975;Kaviar_AC=8008;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.323231;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112522893 rs79008328 A C 100 PASS AC=3;AF=0.0207668;AN=214;NS=2504;DP=19712;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0643;EUR_AF=0.0089;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0207668;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79008328;CLNALLELEID=53552;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0005;dbscSNV_RF_SCORE=0.044;esp6500siv2_ea=0.0103;ExAC_nontcga_ALL=0.0136;ExAC_nontcga_AFR=0.0444;ExAC_nontcga_AMR=0.0097;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0031;AF=0.0177;AF_popmax=0.0400;AF_male=0.0179;AF_female=0.0174;AF_raw=0.0177;AF_afr=0.0400;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0058;AF_asj=0.0138;AF_oth=0.0129;non_topmed_AF_popmax=0.0401;non_neuro_AF_popmax=0.0405;non_cancer_AF_popmax=.;controls_AF_popmax=0.0393;Kaviar_AF=0.012917;Kaviar_AC=1997;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.473566;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112528149 rs141010965;rs141010965;rs562033169 AAAACA AAAACAAAACAAAACG,A 100 PASS AC=2,7;AF=0.057508,0.0115815;AN=214;NS=2504;DP=21675;EAS_AF=0,0.001;AMR_AF=0.0159,0.013;AFR_AF=0.2057,0;EUR_AF=0.005,0.0268;SAS_AF=0,0.0215;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141010965;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0519;AF_popmax=0.1833;AF_male=0.0530;AF_female=0.0505;AF_raw=0.0521;AF_afr=0.1833;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0069;AF_oth=0.0083;non_topmed_AF_popmax=0.1830;non_neuro_AF_popmax=0.1883;non_cancer_AF_popmax=.;controls_AF_popmax=0.1960;Kaviar_AF=0.0022284;Kaviar_AC=58;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.329973;ALLELE_END;VINYL_score=11 GT 0|0 2|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|2 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 2|0 0|0 0|0 0|0 +6 112537497 rs2068770 A G 100 PASS AC=92;AF=0.489417;AN=214;NS=2504;DP=19668;EAS_AF=0.4534;AMR_AF=0.3804;AFR_AF=0.7526;EUR_AF=0.3797;SAS_AF=0.3609;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.489417;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2068770;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4375;AF_popmax=0.6994;AF_male=0.4415;AF_female=0.4326;AF_raw=0.4376;AF_afr=0.6994;AF_sas=.;AF_amr=0.3561;AF_eas=0.4397;AF_nfe=0.3344;AF_fin=0.2848;AF_asj=0.4448;AF_oth=0.3508;non_topmed_AF_popmax=0.6992;non_neuro_AF_popmax=0.7050;non_cancer_AF_popmax=.;controls_AF_popmax=0.7153;Kaviar_AF=0.0711181;Kaviar_AC=10995;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.880294;ALLELE_END;VINYL_score=1 GT 1|1 0|0 1|1 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 0|1 0|0 0|0 0|1 1|1 0|1 0|0 1|0 1|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 1|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 1|1 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|1 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|0 0|0 1|1 1|0 0|0 1|1 0|1 0|1 0|0 0|1 1|0 +6 112537682 rs78871662 A G 100 PASS AC=9;AF=0.0121805;AN=214;NS=2504;DP=18541;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0023;EUR_AF=0.0268;SAS_AF=0.0215;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78871662;CLNALLELEID=53521;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0091;dbscSNV_RF_SCORE=0.142;esp6500siv2_ea=0.0195;ExAC_nontcga_ALL=0.0198;ExAC_nontcga_AFR=0.0052;ExAC_nontcga_AMR=0.0117;ExAC_nontcga_EAS=0.0007;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0260;ExAC_nontcga_OTH=0.0204;ExAC_nontcga_SAS=0.0209;AF=0.0158;AF_popmax=0.0215;AF_male=0.0160;AF_female=0.0156;AF_raw=0.0158;AF_afr=0.0048;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0215;AF_fin=0.0201;AF_asj=0.0448;AF_oth=0.0267;non_topmed_AF_popmax=0.0210;non_neuro_AF_popmax=0.0211;non_cancer_AF_popmax=.;controls_AF_popmax=0.0189;Kaviar_AF=0.0188613;Kaviar_AC=2916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.230869;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 112574962 rs141700664 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=22102;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927640;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141700664;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.484e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.130178;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 112575203 rs538596272 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=14897;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon2:c.G150A:p.T50T,LAMA4:NM_001105207:exon2:c.G150A:p.T50T,LAMA4:NM_001105208:exon2:c.G150A:p.T50T,LAMA4:NM_001105209:exon2:c.G150A:p.T50T,LAMA4:NM_002290:exon2:c.G150A:p.T50T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538596272;CLNALLELEID=395024;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.937e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836769;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon2:c.G150A:p.T50T,LAMA4:NM_001105207:exon2:c.G150A:p.T50T,LAMA4:NM_001105208:exon2:c.G150A:p.T50T,LAMA4:NM_001105209:exon2:c.G150A:p.T50T,LAMA4:NM_002290:exon2:c.G150A:p.T50T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538596272;CLNALLELEID=395024;CLNDN=Dilated_cardiomyopathy_1JJ;CLNDISDB=MedGen:C3808935,OMIM:615235;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.937e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=0;AF_female=0.0001;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000201313|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.836769;ALLELE_END;VINYL_score=6 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 118880029 rs189611501 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18972;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PLN;GeneDetail.refGene=NM_002667:c.-56C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189611501;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0005;AF_popmax=0.0008;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0070927|N/A|N/A|VistaEnhancers;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 121768710 rs57946868 G A 100 PASS AC=4;AF=0.034345;AN=214;NS=2504;DP=19762;EAS_AF=0.003;AMR_AF=0.013;AFR_AF=0.0923;EUR_AF=0.0129;SAS_AF=0.0256;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.G717A:p.R239R;1000g2015aug_all=0.034345;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57946868;CLNALLELEID=141185;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:C4551854,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0148;ExAC_nontcga_ALL=0.0199;ExAC_nontcga_AFR=0.0839;ExAC_nontcga_AMR=0.0093;ExAC_nontcga_EAS=0.0020;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0324;AF=0.0303;AF_popmax=0.0776;AF_male=0.0304;AF_female=0.0302;AF_raw=0.0304;AF_afr=0.0776;AF_sas=.;AF_amr=0.0047;AF_eas=0.0019;AF_nfe=0.0156;AF_fin=0.0029;AF_asj=0.0103;AF_oth=0.0138;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0763;non_cancer_AF_popmax=.;controls_AF_popmax=0.0744;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.946027;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 121768751 rs17653265 C T 100 PASS AC=4;AF=0.00299521;AN=214;NS=2504;DP=19606;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.C758T:p.A253V;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17653265;CLNALLELEID=141186;CLNDN=Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.175;SIFT_converted_rankscore=0.224;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.275;LRT_converted_rankscore=0.151;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-4.29;FATHMM_converted_rankscore=0.972;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.031;MetaSVM_score=-0.209;MetaSVM_rankscore=0.775;MetaSVM_pred=T;MetaLR_score=0.562;MetaLR_rankscore=0.841;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.262;REVEL_rankscore=0.579;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.820;CADD_raw_rankscore=0.172;CADD_phred=9.586;DANN_score=0.978;DANN_rankscore=0.356;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_rankscore=0.390;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.649;Eigen-PC-raw=-0.559;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.672;integrated_fitCons_score_rankscore=0.522;integrated_confidence_value=0;GERP++_RS=3.89;GERP++_RS_rankscore=0.439;phyloP100way_vertebrate=3.784;phyloP100way_vertebrate_rankscore=0.549;phyloP20way_mammalian=0.890;phyloP20way_mammalian_rankscore=0.394;phastCons100way_vertebrate=0.661;phastCons100way_vertebrate_rankscore=0.280;phastCons20way_mammalian=0.017;phastCons20way_mammalian_rankscore=0.128;SiPhy_29way_logOdds=10.136;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0160;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0121;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0011;AF=0.0075;AF_popmax=0.0120;AF_male=0.0077;AF_female=0.0073;AF_raw=0.0075;AF_afr=0.0029;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0120;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0118;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0085186;Kaviar_AC=1317;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895947;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 121769144 rs67678923 T TA 100 PASS AC=3;AF=0.0579073;AN=214;NS=2504;DP=17943;EAS_AF=0.002;AMR_AF=0.3184;AFR_AF=0.0053;EUR_AF=0.0408;SAS_AF=0.0194;AA=A|A|AA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GJA1;GeneDetail.refGene=NM_000165:c.*2_*3insA;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397824185;CLNALLELEID=252067;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C4551854,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0471;ExAC_nontcga_ALL=0.0813;ExAC_nontcga_AFR=0.0106;ExAC_nontcga_AMR=0.4718;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0441;ExAC_nontcga_OTH=0.0497;ExAC_nontcga_SAS=0.0239;AF=0.0465;AF_popmax=0.3679;AF_male=0.0446;AF_female=0.0488;AF_raw=0.0465;AF_afr=0.0122;AF_sas=.;AF_amr=0.3679;AF_eas=0.0013;AF_nfe=0.0520;AF_fin=0.0423;AF_asj=0.0552;AF_oth=0.0681;non_topmed_AF_popmax=0.3704;non_neuro_AF_popmax=0.3195;non_cancer_AF_popmax=.;controls_AF_popmax=0.2724;Kaviar_AF=0.0028331;Kaviar_AC=438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000416|hsa-miR-1-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.797641;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123539684 rs361508 C T 100 PASS AC=174;AF=0.761182;AN=214;NS=2504;DP=20097;EAS_AF=0.5159;AMR_AF=0.8314;AFR_AF=0.9796;EUR_AF=0.7972;SAS_AF=0.6319;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:c.*62G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.761182;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs361508;CLNALLELEID=298885;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.8109;AF_popmax=0.9559;AF_male=0.8142;AF_female=0.8067;AF_raw=0.8102;AF_afr=0.9559;AF_sas=.;AF_amr=0.8385;AF_eas=0.5242;AF_nfe=0.7906;AF_fin=0.6746;AF_asj=0.7793;AF_oth=0.7625;non_topmed_AF_popmax=0.9556;non_neuro_AF_popmax=0.9537;non_cancer_AF_popmax=.;controls_AF_popmax=0.9532;Kaviar_AF=0.0374981;Kaviar_AC=976;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.644000;ALLELE_END;VINYL_score=-1 GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 0|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 1|0 1|0 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|0 +6 123539685 rs1259 T C 100 PASS AC=106;AF=0.465256;AN=214;NS=2504;DP=20280;EAS_AF=0.371;AMR_AF=0.5836;AFR_AF=0.5855;EUR_AF=0.4414;SAS_AF=0.3405;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:c.*61A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.465256;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1259;CLNALLELEID=305725;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4737;AF_popmax=0.6188;AF_male=0.4801;AF_female=0.4657;AF_raw=0.4739;AF_afr=0.5542;AF_sas=.;AF_amr=0.6188;AF_eas=0.3575;AF_nfe=0.4554;AF_fin=0.3797;AF_asj=0.5276;AF_oth=0.4261;non_topmed_AF_popmax=0.6169;non_neuro_AF_popmax=0.6040;non_cancer_AF_popmax=.;controls_AF_popmax=0.6463;Kaviar_AF=0.0474573;Kaviar_AC=7337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.644000;ALLELE_END;VINYL_score=-1 GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 +6 123539904 rs7754205 C T 100 PASS AC=106;AF=0.375998;AN=214;NS=2504;DP=20393;EAS_AF=0.3304;AMR_AF=0.5677;AFR_AF=0.3548;EUR_AF=0.4374;SAS_AF=0.2526;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.375998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7754205;CLNALLELEID=252068;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4593;ExAC_nontcga_ALL=0.4108;ExAC_nontcga_AFR=0.3821;ExAC_nontcga_AMR=0.5852;ExAC_nontcga_EAS=0.3836;ExAC_nontcga_FIN=0.3812;ExAC_nontcga_NFE=0.5017;ExAC_nontcga_OTH=0.4640;ExAC_nontcga_SAS=0.3169;AF=0.4108;AF_popmax=0.6057;AF_male=0.4140;AF_female=0.4068;AF_raw=0.4106;AF_afr=0.3502;AF_sas=.;AF_amr=0.6057;AF_eas=0.3161;AF_nfe=0.4524;AF_fin=0.3647;AF_asj=0.5241;AF_oth=0.4065;non_topmed_AF_popmax=0.6045;non_neuro_AF_popmax=0.5912;non_cancer_AF_popmax=.;controls_AF_popmax=0.6423;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 1|1 0|1 0|0 1|0 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|0 0|0 0|1 0|1 0|1 1|1 0|0 0|1 1|0 0|1 0|0 1|0 1|0 1|1 0|1 1|0 1|1 0|0 +6 123542784 rs563694688 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14919;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563694688;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123545159 rs11368178 GA G 100 PASS AC=110;AF=0.50639;AN=214;NS=2504;DP=15744;EAS_AF=0.4167;AMR_AF=0.5965;AFR_AF=0.5809;EUR_AF=0.4801;SAS_AF=0.4611;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.50639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11368178;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4980;AF_popmax=0.5992;AF_male=0.5;AF_female=0.4955;AF_raw=0.4477;AF_afr=0.5534;AF_sas=.;AF_amr=0.5992;AF_eas=0.3781;AF_nfe=0.4790;AF_fin=0.4417;AF_asj=0.5528;AF_oth=0.4769;non_topmed_AF_popmax=0.5909;non_neuro_AF_popmax=0.5895;non_cancer_AF_popmax=.;controls_AF_popmax=0.6327;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 1|0 1|1 0|1 1|0 1|1 0|1 1|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 0|0 1|0 0|1 1|1 0|0 1|0 1|0 1|0 0|0 1|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|1 0|1 0|1 1|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|1 1|0 1|1 1|0 +6 123580660 rs12661887 C T 100 PASS AC=119;AF=0.335264;AN=214;NS=2504;DP=16261;EAS_AF=0.2907;AMR_AF=0.5548;AFR_AF=0.1793;EUR_AF=0.508;SAS_AF=0.2587;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.335264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12661887;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4004;AF_popmax=0.5641;AF_male=0.4028;AF_female=0.3974;AF_raw=0.4000;AF_afr=0.2056;AF_sas=.;AF_amr=0.5641;AF_eas=0.2778;AF_nfe=0.5102;AF_fin=0.3900;AF_asj=0.5759;AF_oth=0.4392;non_topmed_AF_popmax=0.5634;non_neuro_AF_popmax=0.5491;non_cancer_AF_popmax=.;controls_AF_popmax=0.5738;Kaviar_AF=0.471608;Kaviar_AC=12275;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 1|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|0 1|0 0|0 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 0|1 1|1 0|0 1|0 1|1 1|1 0|1 1|0 1|1 0|1 0|1 1|1 1|0 0|0 0|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|0 1|0 1|0 1|0 0|1 1|1 1|1 0|0 +6 123580675 rs9375235 C T 100 PASS AC=40;AF=0.319888;AN=214;NS=2504;DP=16300;EAS_AF=0.5069;AMR_AF=0.2277;AFR_AF=0.3041;EUR_AF=0.1869;SAS_AF=0.3507;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.319888;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9375235;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2475;AF_popmax=0.5367;AF_male=0.2473;AF_female=0.2477;AF_raw=0.2476;AF_afr=0.2844;AF_sas=.;AF_amr=0.2536;AF_eas=0.5367;AF_nfe=0.1894;AF_fin=0.2885;AF_asj=0.1931;AF_oth=0.2408;non_topmed_AF_popmax=0.5376;non_neuro_AF_popmax=0.5367;non_cancer_AF_popmax=.;controls_AF_popmax=0.5460;Kaviar_AF=0.218227;Kaviar_AC=5680;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123581843 rs529007587 T A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=12743;EAS_AF=0.004;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529007587;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0005379;Kaviar_AC=14;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123588810 rs142280675 A G 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=15033;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142280675;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0037;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0031;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0010;AF=0.0022;AF_popmax=0.0040;AF_male=0.0019;AF_female=0.0025;AF_raw=0.0022;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0020698;Kaviar_AC=320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 +6 123591138 rs1367676 T A 100 PASS AC=40;AF=0.324481;AN=214;NS=2504;DP=17276;EAS_AF=0.5069;AMR_AF=0.2291;AFR_AF=0.3192;EUR_AF=0.1869;SAS_AF=0.3528;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.324481;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1367676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2511;AF_popmax=0.5329;AF_male=0.2511;AF_female=0.2510;AF_raw=0.2514;AF_afr=0.2980;AF_sas=.;AF_amr=0.2589;AF_eas=0.5329;AF_nfe=0.1890;AF_fin=0.2885;AF_asj=0.1931;AF_oth=0.2417;non_topmed_AF_popmax=0.5338;non_neuro_AF_popmax=0.5329;non_cancer_AF_popmax=.;controls_AF_popmax=0.5428;Kaviar_AF=0.0413578;Kaviar_AC=6394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.014060;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123594217 rs531233884 G A 100 PASS AC=5;AF=0.00219649;AN=214;NS=2504;DP=15210;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531233884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0044;AF_popmax=0.0055;AF_male=0.0043;AF_female=0.0045;AF_raw=0.0044;AF_afr=0.0006;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0121;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.003381;Kaviar_AC=88;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 123594426 rs187029339 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=13611;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187029339;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0027;AF_popmax=0.0038;AF_male=0.0022;AF_female=0.0032;AF_raw=0.0027;AF_afr=0.0010;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0041;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0044;non_neuro_AF_popmax=0.0037;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123594510 rs147062785 T TA 100 PASS AC=40;AF=0.262979;AN=214;NS=2504;DP=12974;EAS_AF=0.5069;AMR_AF=0.2104;AFR_AF=0.0946;EUR_AF=0.1859;SAS_AF=0.3558;AA=AAAAA|AAAA|AAAAA|deletion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=TRDN;GeneDetail.refGene=NM_006073:exon28:c.1598-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.262979;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147062785;CLNALLELEID=229391;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1584;ExAC_nontcga_ALL=0.2913;ExAC_nontcga_AFR=0.1186;ExAC_nontcga_AMR=0.2445;ExAC_nontcga_EAS=0.5531;ExAC_nontcga_FIN=0.2940;ExAC_nontcga_NFE=0.2173;ExAC_nontcga_OTH=0.2683;ExAC_nontcga_SAS=0.3308;AF=0.1923;AF_popmax=0.5344;AF_male=0.1914;AF_female=0.1934;AF_raw=0.1924;AF_afr=0.0913;AF_sas=.;AF_amr=0.2344;AF_eas=0.5344;AF_nfe=0.1884;AF_fin=0.2880;AF_asj=0.1931;AF_oth=0.2342;non_topmed_AF_popmax=0.5352;non_neuro_AF_popmax=0.5344;non_cancer_AF_popmax=.;controls_AF_popmax=0.5475;Kaviar_AF=0.0025097;Kaviar_AC=388;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.750889;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123594634 rs559902198 G T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=13199;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs559902198;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123595869 rs2873478 A C 100 PASS AC=40;AF=0.263179;AN=214;NS=2504;DP=14111;EAS_AF=0.5069;AMR_AF=0.2104;AFR_AF=0.0946;EUR_AF=0.1859;SAS_AF=0.3569;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.263179;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2873478;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1708;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1924;AF_popmax=0.5324;AF_male=0.1912;AF_female=0.1938;AF_raw=0.1926;AF_afr=0.0912;AF_sas=.;AF_amr=0.2358;AF_eas=0.5324;AF_nfe=0.1886;AF_fin=0.2889;AF_asj=0.1931;AF_oth=0.2325;non_topmed_AF_popmax=0.5332;non_neuro_AF_popmax=0.5324;non_cancer_AF_popmax=.;controls_AF_popmax=0.5450;Kaviar_AF=0.0054941;Kaviar_AC=143;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123599505 rs55704802 A C 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=13750;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55704802;CLNALLELEID=229393;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0137;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0175;ExAC_nontcga_OTH=0.0120;ExAC_nontcga_SAS=0.0005;AF=0.0048;AF_popmax=0.0077;AF_male=0.0054;AF_female=0.0041;AF_raw=0.0048;AF_afr=0.0015;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0020;AF_asj=0.0069;AF_oth=0.0046;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0091;non_cancer_AF_popmax=.;controls_AF_popmax=0.0123;Kaviar_AF=0.0025032;Kaviar_AC=387;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.417645;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123600184 rs369584691 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15122;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369584691;CLNALLELEID=368688;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.134e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.105353;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123600356 rs577358676 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15140;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs577358676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123653127 rs367768556 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17138;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367768556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0032;AF_popmax=0.0053;AF_male=0.0032;AF_female=0.0032;AF_raw=0.0032;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0012;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0055;non_neuro_AF_popmax=0.0049;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123658671 rs1157133 T C 100 PASS AC=58;AF=0.222843;AN=214;NS=2504;DP=12878;EAS_AF=0.1508;AMR_AF=0.2032;AFR_AF=0.1846;EUR_AF=0.3082;SAS_AF=0.2751;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.222843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1157133;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2765;AF_popmax=0.3058;AF_male=0.2712;AF_female=0.2831;AF_raw=0.2771;AF_afr=0.2170;AF_sas=.;AF_amr=0.1988;AF_eas=0.1399;AF_nfe=0.3058;AF_fin=0.3737;AF_asj=0.1966;AF_oth=0.3094;non_topmed_AF_popmax=0.3137;non_neuro_AF_popmax=0.3051;non_cancer_AF_popmax=.;controls_AF_popmax=0.3276;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 1|1 1|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 1|0 1|0 0|0 1|1 0|1 1|0 0|1 0|0 0|1 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 +6 123658680 rs12216080 A G 100 PASS AC=104;AF=0.305511;AN=214;NS=2504;DP=12806;EAS_AF=0.1379;AMR_AF=0.487;AFR_AF=0.3457;EUR_AF=0.4344;SAS_AF=0.1626;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12216080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3744;AF_popmax=0.4538;AF_male=0.3790;AF_female=0.3686;AF_raw=0.3742;AF_afr=0.3544;AF_sas=.;AF_amr=0.4538;AF_eas=0.1538;AF_nfe=0.4198;AF_fin=0.2893;AF_asj=0.5069;AF_oth=0.3778;non_topmed_AF_popmax=0.4541;non_neuro_AF_popmax=0.4545;non_cancer_AF_popmax=.;controls_AF_popmax=0.4669;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 1|1 1|1 0|0 1|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 0|0 0|0 1|0 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|1 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|1 1|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 0|1 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|1 1|1 0|0 1|0 1|1 1|1 0|1 0|0 1|1 0|1 0|1 0|1 1|0 0|0 0|0 0|1 1|0 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|0 0|0 0|1 1|1 1|1 0|0 +6 123658825 rs9401658 G T 100 PASS AC=40;AF=0.29373;AN=214;NS=2504;DP=14034;EAS_AF=0.6111;AMR_AF=0.245;AFR_AF=0.0688;EUR_AF=0.1769;SAS_AF=0.4254;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.29373;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9401658;CLNALLELEID=229396;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0022;dbscSNV_RF_SCORE=0.212;esp6500siv2_ea=0.1503;ExAC_nontcga_ALL=0.2989;ExAC_nontcga_AFR=0.0927;ExAC_nontcga_AMR=0.2782;ExAC_nontcga_EAS=0.6088;ExAC_nontcga_FIN=0.3452;ExAC_nontcga_NFE=0.2001;ExAC_nontcga_OTH=0.2929;ExAC_nontcga_SAS=0.3767;AF=0.1928;AF_popmax=0.6127;AF_male=0.1936;AF_female=0.1919;AF_raw=0.1931;AF_afr=0.0839;AF_sas=.;AF_amr=0.2905;AF_eas=0.6127;AF_nfe=0.1880;AF_fin=0.2652;AF_asj=0.1931;AF_oth=0.2306;non_topmed_AF_popmax=0.6129;non_neuro_AF_popmax=0.6127;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.0758722;Kaviar_AC=11730;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.733696;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|0 0|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 +6 123673628 rs17736964 C T 100 PASS AC=11;AF=0.00898562;AN=214;NS=2504;DP=17830;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0023;EUR_AF=0.0328;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17736964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0298;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0062;AF=0.0310;AF_popmax=0.0474;AF_male=0.0296;AF_female=0.0329;AF_raw=0.0311;AF_afr=0.0065;AF_sas=.;AF_amr=0.0261;AF_eas=0;AF_nfe=0.0474;AF_fin=0.0314;AF_asj=0.0414;AF_oth=0.0405;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0473;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804325;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17736964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0399;ExAC_nontcga_ALL=0.0266;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0203;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0298;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0354;ExAC_nontcga_SAS=0.0062;AF=0.0310;AF_popmax=0.0474;AF_male=0.0296;AF_female=0.0329;AF_raw=0.0311;AF_afr=0.0065;AF_sas=.;AF_amr=0.0261;AF_eas=0;AF_nfe=0.0474;AF_fin=0.0314;AF_asj=0.0414;AF_oth=0.0405;non_topmed_AF_popmax=0.0502;non_neuro_AF_popmax=0.0473;non_cancer_AF_popmax=.;controls_AF_popmax=0.0555;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.804325;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123673672 rs537388823 A AT 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18311;EAS_AF=0;AMR_AF=0;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=TRDN:NM_001251987:exon21:c.1383dupA:p.X462delinsM;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537388823;CLNALLELEID=229397;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0015;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0046;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.832957;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=TRDN:NM_001251987:exon21:c.1383dupA:p.X462delinsM;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs537388823;CLNALLELEID=229397;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0015;AF_popmax=0.0046;AF_male=0.0017;AF_female=0.0013;AF_raw=0.0015;AF_afr=0.0046;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0066;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0002652;Kaviar_AC=41;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.832957;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123687288 rs2873479 A C 100 PASS AC=202;AF=0.939297;AN=214;NS=2504;DP=16513;EAS_AF=0.9196;AMR_AF=0.951;AFR_AF=0.9644;EUR_AF=0.9215;SAS_AF=0.9356;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S;1000g2015aug_all=0.939297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2873479;CLNALLELEID=229399;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.415;SIFT_converted_rankscore=0.100;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.237;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.191;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=2.29;FATHMM_converted_rankscore=0.171;FATHMM_pred=T;PROVEAN_score=0.52;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.929;MetaSVM_rankscore=0.442;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.022;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.489;CADD_raw_rankscore=0.141;CADD_phred=7.345;DANN_score=0.689;DANN_rankscore=0.085;fathmm-MKL_coding_score=0.535;fathmm-MKL_coding_rankscore=0.291;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.879;Eigen-PC-raw=-0.685;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.065;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.68;GERP++_RS_rankscore=0.582;phyloP100way_vertebrate=2.383;phyloP100way_vertebrate_rankscore=0.438;phyloP20way_mammalian=-0.285;phyloP20way_mammalian_rankscore=0.084;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.177;phastCons20way_mammalian_rankscore=0.212;SiPhy_29way_logOdds=7.740;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9156;ExAC_nontcga_ALL=0.9250;ExAC_nontcga_AFR=0.9522;ExAC_nontcga_AMR=0.9678;ExAC_nontcga_EAS=0.9153;ExAC_nontcga_FIN=0.9160;ExAC_nontcga_NFE=0.9100;ExAC_nontcga_OTH=0.9362;ExAC_nontcga_SAS=0.9392;AF=0.9283;AF_popmax=0.9645;AF_male=0.9290;AF_female=0.9275;AF_raw=0.9282;AF_afr=0.9490;AF_sas=.;AF_amr=0.9645;AF_eas=0.9190;AF_nfe=0.9148;AF_fin=0.9323;AF_asj=0.8966;AF_oth=0.9366;non_topmed_AF_popmax=0.9641;non_neuro_AF_popmax=0.9621;non_cancer_AF_popmax=.;controls_AF_popmax=0.9594;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.593905;ALLELE_END;VINYL_score=0.5 GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 123687318 rs371336992 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.G1286A:p.R429Q,TRDN:NM_006073:exon20:c.G1283A:p.R428Q;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371336992;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.409;SIFT_converted_rankscore=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.246;Polyphen2_HDIV_rankscore=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.188;Polyphen2_HVAR_pred=B;LRT_score=0.208;LRT_converted_rankscore=0.164;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.202;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=2.09;FATHMM_converted_rankscore=0.201;FATHMM_pred=T;PROVEAN_score=0.14;PROVEAN_converted_rankscore=0.054;PROVEAN_pred=N;VEST3_score=0.071;VEST3_rankscore=0.143;MetaSVM_score=-0.946;MetaSVM_rankscore=0.418;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.025;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.250;M-CAP_pred=T;REVEL_score=0.007;REVEL_rankscore=0.005;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.244;CADD_raw_rankscore=0.331;CADD_phred=17.80;DANN_score=0.995;DANN_rankscore=0.697;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_rankscore=0.153;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.949;Eigen-PC-raw=-0.862;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.79;GERP++_RS_rankscore=0.239;phyloP100way_vertebrate=-0.432;phyloP100way_vertebrate_rankscore=0.070;phyloP20way_mammalian=-0.820;phyloP20way_mammalian_rankscore=0.031;phastCons100way_vertebrate=0.176;phastCons100way_vertebrate_rankscore=0.238;phastCons20way_mammalian=0.943;phastCons20way_mammalian_rankscore=0.417;SiPhy_29way_logOdds=4.662;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.933e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.761e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.558e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.187e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.504067;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123687432 rs7769808 T C 100 PASS AC=202;AF=0.954473;AN=214;NS=2504;DP=16289;EAS_AF=0.994;AMR_AF=0.951;AFR_AF=0.9614;EUR_AF=0.9215;SAS_AF=0.9407;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.954473;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7769808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.9319;AF_popmax=0.9923;AF_male=0.9329;AF_female=0.9307;AF_raw=0.9318;AF_afr=0.9488;AF_sas=.;AF_amr=0.9645;AF_eas=0.9923;AF_nfe=0.9147;AF_fin=0.9321;AF_asj=0.8966;AF_oth=0.9384;non_topmed_AF_popmax=0.9921;non_neuro_AF_popmax=0.9923;non_cancer_AF_popmax=.;controls_AF_popmax=0.9945;Kaviar_AF=0.177637;Kaviar_AC=27463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.236441;ALLELE_END;VINYL_score=-1 GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 123696766 rs17737379 G T 100 PASS AC=32;AF=0.147364;AN=214;NS=2504;DP=15478;EAS_AF=0.0665;AMR_AF=0.1196;AFR_AF=0.3116;EUR_AF=0.1312;SAS_AF=0.045;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon19:c.C1260A:p.D420E,TRDN:NM_006073:exon19:c.C1257A:p.D419E;1000g2015aug_all=0.147364;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17737379;CLNALLELEID=229401;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.327;LRT_converted_rankscore=0.142;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=2.57;FATHMM_converted_rankscore=0.136;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.910;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.069;REVEL_rankscore=0.206;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.783;CADD_raw_rankscore=0.169;CADD_phred=9.356;DANN_score=0.425;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_rankscore=0.045;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.057;Eigen-PC-raw=-0.785;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.14;GERP++_RS_rankscore=0.477;phyloP100way_vertebrate=0.616;phyloP100way_vertebrate_rankscore=0.239;phyloP20way_mammalian=-0.339;phyloP20way_mammalian_rankscore=0.072;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=9.685;SiPhy_29way_logOdds_rankscore=0.391;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1188;ExAC_nontcga_ALL=0.1296;ExAC_nontcga_AFR=0.3072;ExAC_nontcga_AMR=0.1353;ExAC_nontcga_EAS=0.0995;ExAC_nontcga_FIN=0.1567;ExAC_nontcga_NFE=0.1469;ExAC_nontcga_OTH=0.1429;ExAC_nontcga_SAS=0.0729;AF=0.1736;AF_popmax=0.2921;AF_male=0.1720;AF_female=0.1755;AF_raw=0.1737;AF_afr=0.2921;AF_sas=.;AF_amr=0.1283;AF_eas=0.0629;AF_nfe=0.1292;AF_fin=0.1454;AF_asj=0.1379;AF_oth=0.1492;non_topmed_AF_popmax=0.2919;non_neuro_AF_popmax=0.2894;non_cancer_AF_popmax=.;controls_AF_popmax=0.2895;Kaviar_AF=0.0677352;Kaviar_AC=10472;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.15458::0.387354;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.738983;ALLELE_END;VINYL_score=1.5 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123698748 rs549633646 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17941;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549633646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123699019 rs28494009 A C 100 PASS AC=23;AF=0.169129;AN=214;NS=2504;DP=15873;EAS_AF=0.1042;AMR_AF=0.098;AFR_AF=0.2088;EUR_AF=0.173;SAS_AF=0.229;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.T1214G:p.V405G,TRDN:NM_006073:exon17:c.T1211G:p.V404G;1000g2015aug_all=0.169129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28494009;CLNALLELEID=229402;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.139;LRT_converted_rankscore=0.029;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_converted_rankscore=0.273;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_converted_rankscore=0.131;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.130;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.024;REVEL_rankscore=0.052;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.548;CADD_raw_rankscore=0.367;CADD_phred=19.78;DANN_score=0.988;DANN_rankscore=0.462;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-0.963;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-0.351;GERP++_RS_rankscore=0.119;phyloP100way_vertebrate=0.025;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=3.708;SiPhy_29way_logOdds_rankscore=0.079;Interpro_domain=.;GTEx_V6p_gene=ENSG00000235535.3;GTEx_V6p_tissue=Heart_Atrial_Appendage;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.2445;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2396;ExAC_nontcga_NFE=0.1874;ExAC_nontcga_OTH=0.1951;ExAC_nontcga_SAS=0.2567;AF=0.1743;AF_popmax=0.2013;AF_male=0.1716;AF_female=0.1777;AF_raw=0.1747;AF_afr=0.2013;AF_sas=.;AF_amr=0.0831;AF_eas=0.0757;AF_nfe=0.1681;AF_fin=0.2083;AF_asj=0.0625;AF_oth=0.1805;non_topmed_AF_popmax=0.2017;non_neuro_AF_popmax=0.2079;non_cancer_AF_popmax=.;controls_AF_popmax=0.2047;Kaviar_AF=0.133937;Kaviar_AC=20707;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.171103::-0.428802;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591453;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.T1214G:p.V405G,TRDN:NM_006073:exon17:c.T1211G:p.V404G;1000g2015aug_all=0.169129;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28494009;CLNALLELEID=229402;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.047;Polyphen2_HDIV_rankscore=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.139;LRT_converted_rankscore=0.029;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_converted_rankscore=0.273;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_converted_rankscore=0.131;PROVEAN_pred=N;VEST3_score=0.117;VEST3_rankscore=0.130;MetaSVM_score=-1.030;MetaSVM_rankscore=0.203;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.050;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.024;REVEL_rankscore=0.052;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.548;CADD_raw_rankscore=0.367;CADD_phred=19.78;DANN_score=0.988;DANN_rankscore=0.462;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-0.963;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.029;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-0.351;GERP++_RS_rankscore=0.119;phyloP100way_vertebrate=0.025;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.956;phastCons20way_mammalian_rankscore=0.434;SiPhy_29way_logOdds=3.708;SiPhy_29way_logOdds_rankscore=0.079;Interpro_domain=.;GTEx_V6p_gene=ENSG00000235535.3;GTEx_V6p_tissue=Heart_Atrial_Appendage;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1454;ExAC_nontcga_ALL=0.2063;ExAC_nontcga_AFR=0.2445;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.0967;ExAC_nontcga_FIN=0.2396;ExAC_nontcga_NFE=0.1874;ExAC_nontcga_OTH=0.1951;ExAC_nontcga_SAS=0.2567;AF=0.1743;AF_popmax=0.2013;AF_male=0.1716;AF_female=0.1777;AF_raw=0.1747;AF_afr=0.2013;AF_sas=.;AF_amr=0.0831;AF_eas=0.0757;AF_nfe=0.1681;AF_fin=0.2083;AF_asj=0.0625;AF_oth=0.1805;non_topmed_AF_popmax=0.2017;non_neuro_AF_popmax=0.2079;non_cancer_AF_popmax=.;controls_AF_popmax=0.2047;Kaviar_AF=0.133937;Kaviar_AC=20707;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.171103::-0.428802;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.591453;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 123699042 rs6901953 T C 100 PASS AC=91;AF=0.272165;AN=214;NS=2504;DP=14839;EAS_AF=0.1012;AMR_AF=0.4251;AFR_AF=0.3434;EUR_AF=0.3678;SAS_AF=0.1452;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.A1191G:p.K397K,TRDN:NM_006073:exon17:c.A1188G:p.K396K;1000g2015aug_all=0.272165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6901953;CLNALLELEID=229404;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0023;dbscSNV_RF_SCORE=0.126;esp6500siv2_ea=0.3635;ExAC_nontcga_ALL=0.3289;ExAC_nontcga_AFR=0.3904;ExAC_nontcga_AMR=0.4928;ExAC_nontcga_EAS=0.1828;ExAC_nontcga_FIN=0.3201;ExAC_nontcga_NFE=0.4458;ExAC_nontcga_OTH=0.3235;ExAC_nontcga_SAS=0.1966;AF=0.3361;AF_popmax=0.4064;AF_male=0.3391;AF_female=0.3322;AF_raw=0.3360;AF_afr=0.3418;AF_sas=.;AF_amr=0.4064;AF_eas=0.1147;AF_nfe=0.3632;AF_fin=0.2794;AF_asj=0.4207;AF_oth=0.3269;non_topmed_AF_popmax=0.4082;non_neuro_AF_popmax=0.4094;non_cancer_AF_popmax=.;controls_AF_popmax=0.4262;Kaviar_AF=0.244874;Kaviar_AC=37858;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.594866;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 1|1 0|1 0|0 1|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 0|0 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|1 0|1 0|0 1|0 1|1 0|1 1|0 1|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 1|1 0|1 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 0|0 +6 123702499 rs3813328 G A 100 PASS AC=64;AF=0.476238;AN=214;NS=2504;DP=17172;EAS_AF=0.752;AMR_AF=0.3501;AFR_AF=0.2587;EUR_AF=0.3598;SAS_AF=0.6953;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.476238;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3813328;CLNALLELEID=252069;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3270;ExAC_nontcga_ALL=0.5003;ExAC_nontcga_AFR=0.3168;ExAC_nontcga_AMR=0.5;ExAC_nontcga_EAS=0.7422;ExAC_nontcga_FIN=0.4913;ExAC_nontcga_NFE=0.3762;ExAC_nontcga_OTH=0.4292;ExAC_nontcga_SAS=0.6482;AF=0.3674;AF_popmax=0.7436;AF_male=0.3648;AF_female=0.3708;AF_raw=0.3672;AF_afr=0.2591;AF_sas=.;AF_amr=0.3756;AF_eas=0.7436;AF_nfe=0.3621;AF_fin=0.4870;AF_asj=0.2414;AF_oth=0.4153;non_topmed_AF_popmax=0.7431;non_neuro_AF_popmax=0.7436;non_cancer_AF_popmax=.;controls_AF_popmax=0.7489;Kaviar_AF=0.0020116;Kaviar_AC=311;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.360236::-0.285219;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329527;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|1 0|1 0|1 0|1 1|0 0|0 1|1 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|0 1|0 0|0 1|0 1|1 +6 123702587 rs34907562 G A 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=16413;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.008;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34907562;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0079;AF_popmax=0.0095;AF_male=0.0064;AF_female=0.0099;AF_raw=0.0080;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0239;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0209;Kaviar_AF=0.0018057;Kaviar_AC=47;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.331548;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123702642 rs9482382 T G 100 PASS AC=32;AF=0.120807;AN=214;NS=2504;DP=16533;EAS_AF=0.0655;AMR_AF=0.121;AFR_AF=0.2103;EUR_AF=0.1322;SAS_AF=0.045;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9482382;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1508;AF_popmax=0.2073;AF_male=0.1491;AF_female=0.1528;AF_raw=0.1508;AF_afr=0.2073;AF_sas=.;AF_amr=0.1285;AF_eas=0.0628;AF_nfe=0.1304;AF_fin=0.1456;AF_asj=0.1552;AF_oth=0.1460;non_topmed_AF_popmax=0.2073;non_neuro_AF_popmax=0.2053;non_cancer_AF_popmax=.;controls_AF_popmax=0.2041;Kaviar_AF=0.124635;Kaviar_AC=3244;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.146947::0.409459;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.262537;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123703168 rs56239280 C T 100 PASS AC=32;AF=0.120807;AN=214;NS=2504;DP=12763;EAS_AF=0.0655;AMR_AF=0.121;AFR_AF=0.2103;EUR_AF=0.1322;SAS_AF=0.045;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56239280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1499;AF_popmax=0.2064;AF_male=0.1485;AF_female=0.1517;AF_raw=0.1501;AF_afr=0.2064;AF_sas=.;AF_amr=0.1244;AF_eas=0.0632;AF_nfe=0.1298;AF_fin=0.1435;AF_asj=0.1552;AF_oth=0.1450;non_topmed_AF_popmax=0.2064;non_neuro_AF_popmax=0.2048;non_cancer_AF_popmax=.;controls_AF_popmax=0.2044;Kaviar_AF=0.123982;Kaviar_AC=3227;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 123714764 rs41284430 C T 100 PASS AC=13;AF=0.0163738;AN=214;NS=2504;DP=16046;EAS_AF=0;AMR_AF=0.0331;AFR_AF=0.0015;EUR_AF=0.0517;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0163738;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41284430;CLNALLELEID=229405;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.4824;dbscSNV_RF_SCORE=0.506;esp6500siv2_ea=0.0483;ExAC_nontcga_ALL=0.0527;ExAC_nontcga_AFR=0.0103;ExAC_nontcga_AMR=0.0406;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0478;ExAC_nontcga_NFE=0.0916;ExAC_nontcga_OTH=0.0556;ExAC_nontcga_SAS=0.0156;AF=0.0316;AF_popmax=0.0476;AF_male=0.0315;AF_female=0.0317;AF_raw=0.0316;AF_afr=0.0087;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0476;AF_fin=0.0337;AF_asj=0.0276;AF_oth=0.0386;non_topmed_AF_popmax=0.0464;non_neuro_AF_popmax=0.0482;non_cancer_AF_popmax=.;controls_AF_popmax=0.0418;Kaviar_AF=0.0323023;Kaviar_AC=4994;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.795319;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123714938 rs143901107 C T 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=15585;EAS_AF=0.005;AMR_AF=0;AFR_AF=0.0106;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143901107;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0088;AF_male=0.0018;AF_female=0.0032;AF_raw=0.0025;AF_afr=0.0088;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0070;Kaviar_AF=0.0013447;Kaviar_AC=35;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123818365 rs150412658 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14512;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon9:c.A826G:p.I276V,TRDN:NM_006073:exon9:c.A826G:p.I276V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150412658;CLNALLELEID=560564;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.426;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=0.01;PROVEAN_converted_rankscore=0.069;PROVEAN_pred=N;VEST3_score=0.153;VEST3_rankscore=0.193;MetaSVM_score=-1.041;MetaSVM_rankscore=0.171;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.307;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.295;M-CAP_pred=T;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.195;CADD_raw_rankscore=0.113;CADD_phred=4.626;DANN_score=0.637;DANN_rankscore=0.071;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.531;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.103;Eigen-PC-raw=0.144;GenoCanyon_score=0.180;GenoCanyon_score_rankscore=0.179;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=3.615;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.79;SiPhy_29way_logOdds_rankscore=0.693;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.727e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.874300;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +6 123833457 rs6902416 G C 100 PASS AC=178;AF=0.843251;AN=214;NS=2504;DP=13677;EAS_AF=0.878;AMR_AF=0.8674;AFR_AF=0.7965;EUR_AF=0.8588;SAS_AF=0.8374;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V;1000g2015aug_all=0.843251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6902416;CLNALLELEID=229411;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_converted_rankscore=0.038;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_score_rankscore=0.008;MutationAssessor_pred=N;FATHMM_score=1.56;FATHMM_converted_rankscore=0.800;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_converted_rankscore=0.096;PROVEAN_pred=N;VEST3_score=0.026;VEST3_rankscore=0.178;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.289;CADD_raw_rankscore=0.069;CADD_phred=0.705;DANN_score=0.215;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.015;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.549;Eigen-PC-raw=-1.493;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.012;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=-3.38;GERP++_RS_rankscore=0.045;phyloP100way_vertebrate=-1.197;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-1.330;phyloP20way_mammalian_rankscore=0.013;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.776;phastCons20way_mammalian_rankscore=0.329;SiPhy_29way_logOdds=1.908;SiPhy_29way_logOdds_rankscore=0.031;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8615;ExAC_nontcga_ALL=0.8234;ExAC_nontcga_AFR=0.7730;ExAC_nontcga_AMR=0.8450;ExAC_nontcga_EAS=0.8572;ExAC_nontcga_FIN=0.8518;ExAC_nontcga_NFE=0.8257;ExAC_nontcga_OTH=0.8088;ExAC_nontcga_SAS=0.8110;AF=0.8512;AF_popmax=0.8920;AF_male=0.8494;AF_female=0.8534;AF_raw=0.8508;AF_afr=0.8011;AF_sas=.;AF_amr=0.8833;AF_eas=0.8920;AF_nfe=0.8670;AF_fin=0.8836;AF_asj=0.8069;AF_oth=0.8534;non_topmed_AF_popmax=0.8906;non_neuro_AF_popmax=0.8920;non_cancer_AF_popmax=.;controls_AF_popmax=0.8958;Kaviar_AF=0.793101;Kaviar_AC=122615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.390978;ALLELE_END;VINYL_score=0.5 GT 1|1 0|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 0|1 1|1 +6 123837214 rs141614347 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16401;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141614347;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123837416 rs139843763 G A 100 PASS AC=2;AF=0.00279553;AN=214;NS=2504;DP=15215;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0083;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139843763;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0034;AF_male=0.0011;AF_female=0.0008;AF_raw=0.0010;AF_afr=0.0034;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.492e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0034;non_neuro_AF_popmax=0.0035;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.00073;Kaviar_AC=19;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123851590 rs12198164 G A 100 PASS AC=133;AF=0.497804;AN=214;NS=2504;DP=11274;EAS_AF=0.373;AMR_AF=0.6614;AFR_AF=0.3812;EUR_AF=0.6551;SAS_AF=0.5061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.497804;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12198164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5649;AF_popmax=0.6421;AF_male=0.5596;AF_female=0.5715;AF_raw=0.5647;AF_afr=0.4350;AF_sas=.;AF_amr=0.5917;AF_eas=0.3377;AF_nfe=0.6421;AF_fin=0.6355;AF_asj=0.5552;AF_oth=0.6030;non_topmed_AF_popmax=0.6388;non_neuro_AF_popmax=0.6419;non_cancer_AF_popmax=.;controls_AF_popmax=0.6335;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 +6 123851610 rs12198167 G A 100 PASS AC=133;AF=0.497404;AN=214;NS=2504;DP=11265;EAS_AF=0.373;AMR_AF=0.6614;AFR_AF=0.3797;EUR_AF=0.6551;SAS_AF=0.5061;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.497404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12198167;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5351;ExAC_nontcga_AFR=0.4223;ExAC_nontcga_AMR=0.6643;ExAC_nontcga_EAS=0.3481;ExAC_nontcga_FIN=0.5938;ExAC_nontcga_NFE=0.5937;ExAC_nontcga_OTH=0.5678;ExAC_nontcga_SAS=0.5253;AF=0.5642;AF_popmax=0.6413;AF_male=0.5591;AF_female=0.5705;AF_raw=0.5643;AF_afr=0.4343;AF_sas=.;AF_amr=0.5942;AF_eas=0.3364;AF_nfe=0.6413;AF_fin=0.6330;AF_asj=0.5552;AF_oth=0.6011;non_topmed_AF_popmax=0.6377;non_neuro_AF_popmax=0.6411;non_cancer_AF_popmax=.;controls_AF_popmax=0.6329;Kaviar_AF=0.0002458;Kaviar_AC=38;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 0|1 1|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 0|0 1|1 1|1 0|1 1|1 1|1 0|0 0|1 0|1 1|1 0|0 0|0 1|1 1|1 1|0 0|0 1|0 1|1 1|0 0|1 0|0 1|0 1|1 0|1 1|1 1|1 1|1 0|0 1|0 1|1 0|0 1|0 1|0 1|1 1|1 1|0 0|1 0|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|1 0|1 1|0 0|1 1|0 +6 123851757 rs567570964 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=11899;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs567570964;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.479e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123868506 rs192289289 C T 100 PASS AC=4;AF=0.00279553;AN=214;NS=2504;DP=12666;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.0119;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon4:c.G403A:p.E135K,TRDN:NM_001256020:exon4:c.G403A:p.E135K,TRDN:NM_001256021:exon4:c.G403A:p.E135K,TRDN:NM_001256022:exon4:c.G403A:p.E135K,TRDN:NM_006073:exon4:c.G403A:p.E135K;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192289289;CLNALLELEID=229414;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.587;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.225;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_converted_rankscore=0.311;LRT_pred=N;MutationTaster_score=0.529;MutationTaster_converted_rankscore=0.319;MutationTaster_pred=D;MutationAssessor_score=2.135;MutationAssessor_score_rankscore=0.597;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-1.12;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST3_score=0.522;VEST3_rankscore=0.760;MetaSVM_score=-0.601;MetaSVM_rankscore=0.648;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_rankscore=0.680;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.246;REVEL_rankscore=0.558;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.510;CADD_raw_rankscore=0.604;CADD_phred=24.3;DANN_score=0.996;DANN_rankscore=0.754;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_rankscore=0.587;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.585;Eigen-PC-raw=0.610;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.436;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.391;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=3.758;phyloP100way_vertebrate_rankscore=0.547;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=16.678;SiPhy_29way_logOdds_rankscore=0.851;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0099;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0082;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0069;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0114;ExAC_nontcga_SAS=0.0016;AF=0.0090;AF_popmax=0.0138;AF_male=0.0089;AF_female=0.0091;AF_raw=0.0089;AF_afr=0.0026;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0138;AF_fin=0.0087;AF_asj=0;AF_oth=0.0120;non_topmed_AF_popmax=0.0144;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0135;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.440747;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 123869607 rs9490809 G C 100 PASS AC=114;AF=0.392971;AN=214;NS=2504;DP=16140;EAS_AF=0.0813;AMR_AF=0.3372;AFR_AF=0.5363;EUR_AF=0.5298;SAS_AF=0.4192;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C383G:p.T128S,TRDN:NM_001256020:exon3:c.C383G:p.T128S,TRDN:NM_001256021:exon3:c.C383G:p.T128S,TRDN:NM_001256022:exon3:c.C383G:p.T128S,TRDN:NM_006073:exon3:c.C383G:p.T128S;1000g2015aug_all=0.392971;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9490809;CLNALLELEID=229415;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.434;SIFT_converted_rankscore=0.106;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.461;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.440;Polyphen2_HVAR_pred=B;LRT_score=0.362;LRT_converted_rankscore=0.043;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.58;FATHMM_converted_rankscore=0.634;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.078;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.361;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.436;CADD_raw_rankscore=0.059;CADD_phred=0.316;DANN_score=0.239;DANN_rankscore=0.010;fathmm-MKL_coding_score=0.347;fathmm-MKL_coding_rankscore=0.249;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.648;Eigen-PC-raw=-0.672;GenoCanyon_score=0.027;GenoCanyon_score_rankscore=0.138;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.97;GERP++_RS_rankscore=0.252;phyloP100way_vertebrate=-0.081;phyloP100way_vertebrate_rankscore=0.112;phyloP20way_mammalian=0.084;phyloP20way_mammalian_rankscore=0.191;phastCons100way_vertebrate=0.411;phastCons100way_vertebrate_rankscore=0.260;phastCons20way_mammalian=0.458;phastCons20way_mammalian_rankscore=0.264;SiPhy_29way_logOdds=4.223;SiPhy_29way_logOdds_rankscore=0.099;Interpro_domain=Aspartyl_beta-hydroxylase/Triadin_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5375;ExAC_nontcga_ALL=0.4897;ExAC_nontcga_AFR=0.5421;ExAC_nontcga_AMR=0.3048;ExAC_nontcga_EAS=0.1007;ExAC_nontcga_FIN=0.5886;ExAC_nontcga_NFE=0.5689;ExAC_nontcga_OTH=0.5234;ExAC_nontcga_SAS=0.4483;AF=0.5055;AF_popmax=0.5358;AF_male=0.4999;AF_female=0.5125;AF_raw=0.5050;AF_afr=0.5358;AF_sas=.;AF_amr=0.3218;AF_eas=0.0643;AF_nfe=0.5248;AF_fin=0.5839;AF_asj=0.5174;AF_oth=0.5120;non_topmed_AF_popmax=0.5353;non_neuro_AF_popmax=0.5395;non_cancer_AF_popmax=.;controls_AF_popmax=0.5371;Kaviar_AF=0.421152;Kaviar_AC=65111;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.257118;ALLELE_END;VINYL_score=0.5 GT 0|0 1|0 0|1 1|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 1|0 1|1 1|0 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 0|0 0|0 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 +6 123869615 rs377440434 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16007;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C375T:p.D125D,TRDN:NM_001256020:exon3:c.C375T:p.D125D,TRDN:NM_001256021:exon3:c.C375T:p.D125D,TRDN:NM_001256022:exon3:c.C375T:p.D125D,TRDN:NM_006073:exon3:c.C375T:p.D125D;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377440434;CLNALLELEID=258432;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0006;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.293686;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 123869769 rs66509682 TAA T 100 PASS AC=123;AF=0.500599;AN=214;NS=2504;DP=18777;EAS_AF=0.1419;AMR_AF=0.3963;AFR_AF=0.8094;EUR_AF=0.5726;SAS_AF=0.453;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.500599;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66509682;CLNALLELEID=305897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4918;ExAC_nontcga_AFR=0.5577;ExAC_nontcga_AMR=0.4588;ExAC_nontcga_EAS=0.2258;ExAC_nontcga_FIN=0.6481;ExAC_nontcga_NFE=0.5416;ExAC_nontcga_OTH=0.5111;ExAC_nontcga_SAS=0.4156;AF=0.5578;AF_popmax=0.6255;AF_male=0.5518;AF_female=0.5654;AF_raw=0.5264;AF_afr=0.6255;AF_sas=.;AF_amr=0.3786;AF_eas=0.1435;AF_nfe=0.5587;AF_fin=0.6119;AF_asj=0.5682;AF_oth=0.5493;non_topmed_AF_popmax=0.6256;non_neuro_AF_popmax=0.6284;non_cancer_AF_popmax=.;controls_AF_popmax=0.6281;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.931712,99.435288;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|1 1|0 0|0 1|1 1|1 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|0 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 1|1 0|0 0|0 1|1 1|0 1|1 1|1 0|0 1|1 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|0 1|0 0|1 0|1 +6 123892001 rs2145735 G A 100 PASS AC=78;AF=0.495807;AN=214;NS=2504;DP=17790;EAS_AF=0.8284;AMR_AF=0.5879;AFR_AF=0.2632;EUR_AF=0.3648;SAS_AF=0.5368;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.495807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2145735;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3865;AF_popmax=0.8608;AF_male=0.3916;AF_female=0.3801;AF_raw=0.3865;AF_afr=0.2697;AF_sas=.;AF_amr=0.6076;AF_eas=0.8608;AF_nfe=0.3950;AF_fin=0.3646;AF_asj=0.4069;AF_oth=0.4154;non_topmed_AF_popmax=0.8626;non_neuro_AF_popmax=0.8608;non_cancer_AF_popmax=.;controls_AF_popmax=0.8435;Kaviar_AF=0.0840998;Kaviar_AC=13002;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|0 1|0 1|1 0|1 0|0 0|0 0|1 1|0 1|0 1|1 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 0|1 1|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 1|1 1|0 1|1 1|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|1 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 1|1 0|0 1|1 0|0 1|0 1|0 +6 123892044 rs12193784 A G 100 PASS AC=23;AF=0.0467252;AN=214;NS=2504;DP=17613;EAS_AF=0;AMR_AF=0.0576;AFR_AF=0.0287;EUR_AF=0.0805;SAS_AF=0.0767;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0467252;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12193784;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0938;ExAC_nontcga_ALL=0.0702;ExAC_nontcga_AFR=0.0370;ExAC_nontcga_AMR=0.0424;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0619;ExAC_nontcga_NFE=0.0948;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.0601;AF=0.0592;AF_popmax=0.0785;AF_male=0.0593;AF_female=0.0590;AF_raw=0.0592;AF_afr=0.0310;AF_sas=.;AF_amr=0.0778;AF_eas=0;AF_nfe=0.0785;AF_fin=0.0584;AF_asj=0.1379;AF_oth=0.0625;non_topmed_AF_popmax=0.0765;non_neuro_AF_popmax=0.0957;non_cancer_AF_popmax=.;controls_AF_popmax=0.1098;Kaviar_AF=0.068285;Kaviar_AC=10557;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.413899;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 123892337 rs2295732 G A 100 PASS AC=90;AF=0.24361;AN=214;NS=2504;DP=19141;EAS_AF=0.0536;AMR_AF=0.2522;AFR_AF=0.3676;EUR_AF=0.3519;SAS_AF=0.1544;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.24361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295732;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3319;AF_popmax=0.4079;AF_male=0.3307;AF_female=0.3335;AF_raw=0.3319;AF_afr=0.4079;AF_sas=.;AF_amr=0.2323;AF_eas=0.0611;AF_nfe=0.3335;AF_fin=0.2879;AF_asj=0.3759;AF_oth=0.2952;non_topmed_AF_popmax=0.4076;non_neuro_AF_popmax=0.4104;non_cancer_AF_popmax=.;controls_AF_popmax=0.4019;Kaviar_AF=0.0606331;Kaviar_AC=9374;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.708252;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|1 1|1 1|0 0|1 0|0 1|1 1|1 1|1 1|0 1|0 0|0 1|0 1|1 1|1 0|0 0|1 0|0 1|1 0|0 0|1 0|1 0|0 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|0 1|0 1|0 1|1 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 0|0 1|1 0|1 0|1 +6 123957876 rs561111855 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20141;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs561111855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.585e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.247e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.191e-05;AF_popmax=6.49e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.49e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.354e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000803992|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.261590;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129371106 rs1140366 C T 100 PASS AC=40;AF=0.0706869;AN=214;NS=2504;DP=17055;EAS_AF=0.125;AMR_AF=0.0749;AFR_AF=0.0015;EUR_AF=0.1282;SAS_AF=0.046;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon2:c.C156T:p.I52I,LAMA2:NM_001079823:exon2:c.C156T:p.I52I;1000g2015aug_all=0.0706869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1140366;CLNALLELEID=98845;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1164;ExAC_nontcga_ALL=0.0983;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.0596;ExAC_nontcga_EAS=0.1559;ExAC_nontcga_FIN=0.1022;ExAC_nontcga_NFE=0.1245;ExAC_nontcga_OTH=0.0893;ExAC_nontcga_SAS=0.0531;AF=0.0878;AF_popmax=0.1570;AF_male=0.0886;AF_female=0.0867;AF_raw=0.0878;AF_afr=0.0163;AF_sas=.;AF_amr=0.0697;AF_eas=0.1570;AF_nfe=0.1153;AF_fin=0.1022;AF_asj=0.1910;AF_oth=0.1105;non_topmed_AF_popmax=0.1590;non_neuro_AF_popmax=0.1570;non_cancer_AF_popmax=.;controls_AF_popmax=0.1729;Kaviar_AF=0.0988668;Kaviar_AC=15285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.611828;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129381026 rs4404787 C A 100 PASS AC=208;AF=0.936701;AN=214;NS=2504;DP=18085;EAS_AF=0.9673;AMR_AF=0.9841;AFR_AF=0.8986;EUR_AF=0.9702;SAS_AF=0.8885;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T;1000g2015aug_all=0.936701;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4404787;CLNALLELEID=98862;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9699;ExAC_nontcga_ALL=0.9571;ExAC_nontcga_AFR=0.9034;ExAC_nontcga_AMR=0.9854;ExAC_nontcga_EAS=0.9736;ExAC_nontcga_FIN=0.9859;ExAC_nontcga_NFE=0.9708;ExAC_nontcga_OTH=0.9669;ExAC_nontcga_SAS=0.9023;AF=0.9540;AF_popmax=0.9787;AF_male=0.9531;AF_female=0.9550;AF_raw=0.9539;AF_afr=0.9027;AF_sas=.;AF_amr=0.9787;AF_eas=0.9769;AF_nfe=0.9718;AF_fin=0.9842;AF_asj=0.9655;AF_oth=0.9596;non_topmed_AF_popmax=0.9790;non_neuro_AF_popmax=0.9769;non_cancer_AF_popmax=.;controls_AF_popmax=0.9797;Kaviar_AF=0.948435;Kaviar_AC=146630;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.531499;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 129419454 rs148665727 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15943;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon4:c.C533T:p.T178M,LAMA2:NM_001079823:exon4:c.C533T:p.T178M;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148665727;CLNALLELEID=560437;CLNDN=Laminin_alpha_2-related_dystrophy;CLNDISDB=MedGen:CN117977;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.817;Polyphen2_HVAR_rankscore=0.571;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.463;LRT_pred=D;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.404;MutationTaster_pred=D;MutationAssessor_score=3.005;MutationAssessor_score_rankscore=0.862;MutationAssessor_pred=M;FATHMM_score=-0.98;FATHMM_converted_rankscore=0.758;FATHMM_pred=T;PROVEAN_score=-3.89;PROVEAN_converted_rankscore=0.728;PROVEAN_pred=D;VEST3_score=0.298;VEST3_rankscore=0.358;MetaSVM_score=-0.174;MetaSVM_rankscore=0.783;MetaSVM_pred=T;MetaLR_score=0.410;MetaLR_rankscore=0.759;MetaLR_pred=T;M-CAP_score=0.051;M-CAP_rankscore=0.646;M-CAP_pred=D;REVEL_score=0.398;REVEL_rankscore=0.716;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.755;CADD_raw_rankscore=0.638;CADD_phred=24.7;DANN_score=0.997;DANN_rankscore=0.781;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_rankscore=0.554;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.218;Eigen-PC-raw=0.062;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.371;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.51;GERP++_RS_rankscore=0.391;phyloP100way_vertebrate=2.786;phyloP100way_vertebrate_rankscore=0.472;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.978;phastCons100way_vertebrate_rankscore=0.348;phastCons20way_mammalian=0.055;phastCons20way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=10.153;SiPhy_29way_logOdds_rankscore=0.418;Interpro_domain=Galactose-binding_domain-like|Laminin,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-05;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.201e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0002;AF_popmax=0.0006;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118695;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129419609 rs117988669 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18955;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117988669;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0066;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0034;AF_popmax=0.0053;AF_male=0.0035;AF_female=0.0032;AF_raw=0.0034;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0020;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.491023;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129465020 rs7754560 G A 100 PASS AC=34;AF=0.247404;AN=214;NS=2504;DP=15574;EAS_AF=0.1369;AMR_AF=0.1441;AFR_AF=0.4153;EUR_AF=0.2078;SAS_AF=0.2485;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.247404;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7754560;CLNALLELEID=252071;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1932;ExAC_nontcga_ALL=0.2146;ExAC_nontcga_AFR=0.4032;ExAC_nontcga_AMR=0.1223;ExAC_nontcga_EAS=0.1470;ExAC_nontcga_FIN=0.2048;ExAC_nontcga_NFE=0.2016;ExAC_nontcga_OTH=0.2214;ExAC_nontcga_SAS=0.2548;AF=0.2442;AF_popmax=0.3927;AF_male=0.2456;AF_female=0.2424;AF_raw=0.2445;AF_afr=0.3927;AF_sas=.;AF_amr=0.1333;AF_eas=0.1432;AF_nfe=0.1892;AF_fin=0.2063;AF_asj=0.1828;AF_oth=0.2081;non_topmed_AF_popmax=0.3922;non_neuro_AF_popmax=0.3903;non_cancer_AF_popmax=.;controls_AF_popmax=0.3815;Kaviar_AF=0.193853;Kaviar_AC=29970;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.177285;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 +6 129468288 rs2279165 A T 100 PASS AC=34;AF=0.352236;AN=214;NS=2504;DP=16181;EAS_AF=0.1667;AMR_AF=0.1671;AFR_AF=0.7632;EUR_AF=0.2107;SAS_AF=0.2648;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.352236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2279165;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3340;AF_popmax=0.6984;AF_male=0.3389;AF_female=0.3279;AF_raw=0.3342;AF_afr=0.6984;AF_sas=.;AF_amr=0.1623;AF_eas=0.1795;AF_nfe=0.1915;AF_fin=0.2078;AF_asj=0.1840;AF_oth=0.2366;non_topmed_AF_popmax=0.6974;non_neuro_AF_popmax=0.6948;non_cancer_AF_popmax=.;controls_AF_popmax=0.6961;Kaviar_AF=0.0452129;Kaviar_AC=6990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000804985|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.371025;ALLELE_END;VINYL_score=0 GT 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 +6 129486657 rs187475772 C A 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15677;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0099;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187475772;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0094;AF_popmax=0.0092;AF_male=0.0085;AF_female=0.0105;AF_raw=0.0094;AF_afr=0.0022;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0092;AF_fin=0.0335;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0092;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.748327;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129486815 rs200097756 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16089;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon9:c.G1301A:p.R434Q,LAMA2:NM_001079823:exon9:c.G1301A:p.R434Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200097756;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.764;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.969;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.01;MutationAssessor_score_rankscore=0.254;MutationAssessor_pred=L;FATHMM_score=1.49;FATHMM_converted_rankscore=0.315;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.047;PROVEAN_pred=N;VEST3_score=0.065;VEST3_rankscore=0.147;MetaSVM_score=-0.968;MetaSVM_rankscore=0.375;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.069;M-CAP_pred=T;REVEL_score=0.006;REVEL_rankscore=0.004;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.655;CADD_raw_rankscore=0.156;CADD_phred=8.529;DANN_score=0.838;DANN_rankscore=0.144;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_rankscore=0.051;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.466;Eigen-PC-raw=-1.474;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.090;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-5.61;GERP++_RS_rankscore=0.023;phyloP100way_vertebrate=-0.503;phyloP100way_vertebrate_rankscore=0.064;phyloP20way_mammalian=0.120;phyloP20way_mammalian_rankscore=0.210;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=4.512;SiPhy_29way_logOdds_rankscore=0.112;Interpro_domain=EGF-like_domain|Growth_factor_receptor_cysteine-rich_domain|Laminin_EGF_domain\x3bEGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.327e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.346840;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129511373 rs2306220 T C 100 PASS AC=4;AF=0.0565096;AN=214;NS=2504;DP=19927;EAS_AF=0.1339;AMR_AF=0.013;AFR_AF=0.0166;EUR_AF=0.0189;SAS_AF=0.1002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon11:c.T1491C:p.C497C,LAMA2:NM_001079823:exon11:c.T1491C:p.C497C;1000g2015aug_all=0.0565096;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306220;CLNALLELEID=134879;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0112;ExAC_nontcga_ALL=0.0343;ExAC_nontcga_AFR=0.0156;ExAC_nontcga_AMR=0.0180;ExAC_nontcga_EAS=0.1577;ExAC_nontcga_FIN=0.0225;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0347;ExAC_nontcga_SAS=0.0701;AF=0.0204;AF_popmax=0.1658;AF_male=0.0215;AF_female=0.0189;AF_raw=0.0205;AF_afr=0.0145;AF_sas=.;AF_amr=0.0130;AF_eas=0.1658;AF_nfe=0.0089;AF_fin=0.0219;AF_asj=0.0241;AF_oth=0.0211;non_topmed_AF_popmax=0.1653;non_neuro_AF_popmax=0.1658;non_cancer_AF_popmax=.;controls_AF_popmax=0.1842;Kaviar_AF=0.0302325;Kaviar_AC=4674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329573;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129513850 rs118083923 T A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=14880;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon12:c.T1634A:p.L545Q,LAMA2:NM_001079823:exon12:c.T1634A:p.L545Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118083923;CLNALLELEID=98847;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.879;Polyphen2_HVAR_rankscore=0.606;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.349;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_score_rankscore=0.784;MutationAssessor_pred=M;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.681;PROVEAN_pred=D;VEST3_score=0.807;VEST3_rankscore=0.796;MetaSVM_score=-0.781;MetaSVM_rankscore=0.563;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_rankscore=0.492;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.154;CADD_raw_rankscore=0.695;CADD_phred=25.4;DANN_score=0.996;DANN_rankscore=0.710;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.650;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.636;Eigen-PC-raw=0.601;GenoCanyon_score=0.990;GenoCanyon_score_rankscore=0.318;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.42;GERP++_RS_rankscore=0.786;phyloP100way_vertebrate=3.906;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.894;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=15.450;SiPhy_29way_logOdds_rankscore=0.749;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0009;AF=0.0034;AF_popmax=0.0053;AF_male=0.0035;AF_female=0.0032;AF_raw=0.0034;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0053;AF_fin=0.0020;AF_asj=0.0103;AF_oth=0.0018;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0051;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.459134;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129514008 rs200030296 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17822;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200030296;CLNALLELEID=191155;CLNDN=Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0;AF=0.0025;AF_popmax=0.0045;AF_male=0.0023;AF_female=0.0028;AF_raw=0.0025;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0017;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0105;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.738623;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129571330 rs3816665 G A 100 PASS AC=27;AF=0.270966;AN=214;NS=2504;DP=18775;EAS_AF=0.0843;AMR_AF=0.134;AFR_AF=0.5961;EUR_AF=0.1551;SAS_AF=0.2403;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H;1000g2015aug_all=0.270966;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816665;CLNALLELEID=98850;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.287;SIFT_converted_rankscore=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_converted_rankscore=0.363;FATHMM_pred=T;PROVEAN_score=0.05;PROVEAN_converted_rankscore=0.064;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.030;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_rankscore=0.155;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.063;REVEL_rankscore=0.187;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.271;CADD_raw_rankscore=0.070;CADD_phred=0.771;DANN_score=0.731;DANN_rankscore=0.099;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.042;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.681;Eigen-PC-raw=-1.747;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.114;integrated_fitCons_score=0.549;integrated_fitCons_score_rankscore=0.223;integrated_confidence_value=0;GERP++_RS=-5.14;GERP++_RS_rankscore=0.026;phyloP100way_vertebrate=-1.575;phyloP100way_vertebrate_rankscore=0.022;phyloP20way_mammalian=-3.167;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=16.131;SiPhy_29way_logOdds_rankscore=0.812;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.14;ExAC_nontcga_ALL=0.1850;ExAC_nontcga_AFR=0.5454;ExAC_nontcga_AMR=0.1279;ExAC_nontcga_EAS=0.0836;ExAC_nontcga_FIN=0.1884;ExAC_nontcga_NFE=0.1350;ExAC_nontcga_OTH=0.1879;ExAC_nontcga_SAS=0.2371;AF=0.2529;AF_popmax=0.5399;AF_male=0.2560;AF_female=0.2490;AF_raw=0.2531;AF_afr=0.5399;AF_sas=.;AF_amr=0.1087;AF_eas=0.0830;AF_nfe=0.1374;AF_fin=0.1888;AF_asj=0.1379;AF_oth=0.1912;non_topmed_AF_popmax=0.5395;non_neuro_AF_popmax=0.5410;non_cancer_AF_popmax=.;controls_AF_popmax=0.5438;Kaviar_AF=0.177811;Kaviar_AC=27490;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.000114;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 +6 129601231 rs118147866 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=20506;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon18:c.C2476T:p.R826W,LAMA2:NM_001079823:exon18:c.C2476T:p.R826W;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118147866;CLNALLELEID=176970;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;Polyphen2_HDIV_score=0.027;Polyphen2_HDIV_rankscore=0.182;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.265;LRT_converted_rankscore=0.152;LRT_pred=N;MutationTaster_score=0.779;MutationTaster_converted_rankscore=0.293;MutationTaster_pred=N;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_converted_rankscore=0.639;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.251;VEST3_rankscore=0.306;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.073;MetaLR_rankscore=0.296;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.087;REVEL_rankscore=0.258;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.122;CADD_raw_rankscore=0.691;CADD_phred=25.4;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_rankscore=0.342;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.063;GenoCanyon_score=0.082;GenoCanyon_score_rankscore=0.159;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=1.146;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.892;phastCons100way_vertebrate_rankscore=0.310;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=8.098;SiPhy_29way_logOdds_rankscore=0.298;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0012;AF=0.0070;AF_popmax=0.0075;AF_male=0.0064;AF_female=0.0079;AF_raw=0.0071;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0239;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0070;non_cancer_AF_popmax=.;controls_AF_popmax=0.0071;Kaviar_AF=0.0048318;Kaviar_AC=747;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.479070;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129609026 rs148749681 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20274;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon19:c.C2572T:p.P858S,LAMA2:NM_001079823:exon19:c.C2572T:p.P858S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148749681;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.791;Polyphen2_HVAR_rankscore=0.559;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.925;MutationAssessor_score_rankscore=0.847;MutationAssessor_pred=M;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-4.98;PROVEAN_converted_rankscore=0.821;PROVEAN_pred=D;VEST3_score=0.806;VEST3_rankscore=0.795;MetaSVM_score=-0.533;MetaSVM_rankscore=0.674;MetaSVM_pred=T;MetaLR_score=0.305;MetaLR_rankscore=0.676;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.524;M-CAP_pred=D;REVEL_score=0.374;REVEL_rankscore=0.696;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.647;CADD_raw_rankscore=0.912;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.975;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.794;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.757;Eigen-PC-raw=0.774;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=6.175;phyloP100way_vertebrate_rankscore=0.717;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=20.346;SiPhy_29way_logOdds_rankscore=0.988;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.670692;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129609237 rs9492296 T C 100 PASS AC=1;AF=0.0341454;AN=214;NS=2504;DP=22988;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1112;EUR_AF=0.002;SAS_AF=0.0123;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0341454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9492296;CLNALLELEID=252083;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0112;ExAC_nontcga_AFR=0.1078;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0066;AF=0.0308;AF_popmax=0.1075;AF_male=0.0319;AF_female=0.0295;AF_raw=0.0309;AF_afr=0.1075;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.1085;non_neuro_AF_popmax=0.1056;non_cancer_AF_popmax=.;controls_AF_popmax=0.1031;Kaviar_AF=0.0104397;Kaviar_AC=1614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569901;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129612765 rs35277491 G T 100 PASS AC=1;AF=0.0463259;AN=214;NS=2504;DP=18965;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.1573;EUR_AF=0.002;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.G2756T:p.R919L,LAMA2:NM_001079823:exon20:c.G2756T:p.R919L;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35277491;CLNALLELEID=98855;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.322;SIFT_converted_rankscore=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_converted_rankscore=0.318;LRT_pred=N;MutationTaster_score=0.626;MutationTaster_converted_rankscore=0.307;MutationTaster_pred=N;MutationAssessor_score=1.51;MutationAssessor_score_rankscore=0.383;MutationAssessor_pred=L;FATHMM_score=0.08;FATHMM_converted_rankscore=0.616;FATHMM_pred=T;PROVEAN_score=-2.67;PROVEAN_converted_rankscore=0.571;PROVEAN_pred=D;VEST3_score=0.074;VEST3_rankscore=0.064;MetaSVM_score=-1.060;MetaSVM_rankscore=0.118;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_rankscore=0.134;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.079;REVEL_rankscore=0.235;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.558;CADD_raw_rankscore=0.369;CADD_phred=19.84;DANN_score=0.978;DANN_rankscore=0.353;fathmm-MKL_coding_score=0.270;fathmm-MKL_coding_rankscore=0.229;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.070;Eigen-PC-raw=-0.999;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.055;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.89;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=0.178;phyloP100way_vertebrate_rankscore=0.165;phyloP20way_mammalian=-1.671;phyloP20way_mammalian_rankscore=0.008;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.599;phastCons20way_mammalian_rankscore=0.288;SiPhy_29way_logOdds=4.729;SiPhy_29way_logOdds_rankscore=0.122;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0145;ExAC_nontcga_AFR=0.1438;ExAC_nontcga_AMR=0.0067;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0059;ExAC_nontcga_SAS=0.0068;AF=0.0394;AF_popmax=0.1383;AF_male=0.0400;AF_female=0.0386;AF_raw=0.0394;AF_afr=0.1383;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0.0083;non_topmed_AF_popmax=0.1392;non_neuro_AF_popmax=0.1364;non_cancer_AF_popmax=.;controls_AF_popmax=0.1353;Kaviar_AF=0.0136674;Kaviar_AC=2113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.252063;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129612808 rs1027199 A G 100 PASS AC=48;AF=0.313898;AN=214;NS=2504;DP=17620;EAS_AF=0.4742;AMR_AF=0.2233;AFR_AF=0.3313;EUR_AF=0.2256;SAS_AF=0.2802;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.A2799G:p.Q933Q,LAMA2:NM_001079823:exon20:c.A2799G:p.Q933Q;1000g2015aug_all=0.313898;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1027199;CLNALLELEID=98856;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2272;ExAC_nontcga_ALL=0.2712;ExAC_nontcga_AFR=0.3256;ExAC_nontcga_AMR=0.2828;ExAC_nontcga_EAS=0.4428;ExAC_nontcga_FIN=0.2884;ExAC_nontcga_NFE=0.2248;ExAC_nontcga_OTH=0.2710;ExAC_nontcga_SAS=0.2974;AF=0.2708;AF_popmax=0.4344;AF_male=0.2749;AF_female=0.2656;AF_raw=0.2712;AF_afr=0.3241;AF_sas=.;AF_amr=0.2459;AF_eas=0.4344;AF_nfe=0.2221;AF_fin=0.2976;AF_asj=0.2118;AF_oth=0.2491;non_topmed_AF_popmax=0.4387;non_neuro_AF_popmax=0.4344;non_cancer_AF_popmax=.;controls_AF_popmax=0.4223;Kaviar_AF=0.260501;Kaviar_AC=40274;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.828695;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|1 1|1 1|0 0|0 0|1 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|1 0|0 0|0 1|1 0|0 0|1 +6 129618791 rs117096733 T C 100 PASS AC=4;AF=0.00359425;AN=214;NS=2504;DP=19174;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0031;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117096733;CLNALLELEID=252084;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0119;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0102;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0091;AF=0.0104;AF_popmax=0.0154;AF_male=0.0098;AF_female=0.0111;AF_raw=0.0103;AF_afr=0.0037;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0154;AF_fin=0.0101;AF_asj=0.0069;AF_oth=0.0138;non_topmed_AF_popmax=0.0141;non_neuro_AF_popmax=0.0156;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0114682;Kaviar_AC=1773;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.776306;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129618905 rs202050052 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18976;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon21:c.G2932A:p.D978N,LAMA2:NM_001079823:exon21:c.G2932A:p.D978N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202050052;CLNALLELEID=443877;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.237;SIFT_converted_rankscore=0.179;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_converted_rankscore=0.408;PROVEAN_pred=N;VEST3_score=0.08;VEST3_rankscore=0.143;MetaSVM_score=-0.830;MetaSVM_rankscore=0.534;MetaSVM_pred=T;MetaLR_score=0.219;MetaLR_rankscore=0.582;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.547;M-CAP_pred=D;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.101;CADD_raw_rankscore=0.841;CADD_phred=28.2;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.911;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.694;Eigen-PC-raw=0.734;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.59;GERP++_RS_rankscore=0.846;phyloP100way_vertebrate=9.993;phyloP100way_vertebrate_rankscore=0.992;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.698;phastCons20way_mammalian_rankscore=0.309;SiPhy_29way_logOdds=19.585;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.994e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.185e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.389640;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129619059 rs11967042 G A 100 PASS AC=13;AF=0.182508;AN=214;NS=2504;DP=22463;EAS_AF=0.4107;AMR_AF=0.2233;AFR_AF=0.1195;EUR_AF=0.0785;SAS_AF=0.1104;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.182508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11967042;CLNALLELEID=252086;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0769;ExAC_nontcga_ALL=0.1387;ExAC_nontcga_AFR=0.1084;ExAC_nontcga_AMR=0.3146;ExAC_nontcga_EAS=0.3902;ExAC_nontcga_FIN=0.1394;ExAC_nontcga_NFE=0.0835;ExAC_nontcga_OTH=0.1104;ExAC_nontcga_SAS=0.1072;AF=0.1132;AF_popmax=0.3934;AF_male=0.1174;AF_female=0.1080;AF_raw=0.1134;AF_afr=0.1102;AF_sas=.;AF_amr=0.2388;AF_eas=0.3934;AF_nfe=0.0770;AF_fin=0.1311;AF_asj=0.0759;AF_oth=0.1068;non_topmed_AF_popmax=0.3974;non_neuro_AF_popmax=0.3934;non_cancer_AF_popmax=.;controls_AF_popmax=0.3956;Kaviar_AF=0.117004;Kaviar_AC=18089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 +6 129621840 rs139981540 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15760;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139981540;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.438e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129622055 rs902373 A G 100 PASS AC=111;AF=0.303714;AN=214;NS=2504;DP=16769;EAS_AF=0.2976;AMR_AF=0.3386;AFR_AF=0.0953;EUR_AF=0.4602;SAS_AF=0.4059;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.303714;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs902373;CLNALLELEID=252087;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4524;ExAC_nontcga_ALL=0.3960;ExAC_nontcga_AFR=0.1425;ExAC_nontcga_AMR=0.2846;ExAC_nontcga_EAS=0.2865;ExAC_nontcga_FIN=0.3824;ExAC_nontcga_NFE=0.4659;ExAC_nontcga_OTH=0.4249;ExAC_nontcga_SAS=0.4350;AF=0.3426;AF_popmax=0.4491;AF_male=0.3388;AF_female=0.3473;AF_raw=0.3425;AF_afr=0.1413;AF_sas=.;AF_amr=0.2813;AF_eas=0.2819;AF_nfe=0.4491;AF_fin=0.3733;AF_asj=0.5828;AF_oth=0.4174;non_topmed_AF_popmax=0.4560;non_neuro_AF_popmax=0.4471;non_cancer_AF_popmax=.;controls_AF_popmax=0.4555;Kaviar_AF=0.393805;Kaviar_AC=60883;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|0 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|1 1|0 0|0 0|1 0|0 1|0 1|1 0|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 1|0 0|1 0|1 0|1 0|1 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|1 0|0 1|0 0|1 1|1 0|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|1 0|0 0|1 1|1 1|0 1|1 0|0 1|1 1|0 0|0 1|1 0|1 +6 129633970 rs79017110 TTG T 100 PASS AC=14;AF=0.170128;AN=214;NS=2504;DP=20220;EAS_AF=0.4067;AMR_AF=0.2262;AFR_AF=0.0794;EUR_AF=0.0785;SAS_AF=0.1033;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.170128;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372962551;CLNALLELEID=252088;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0774;ExAC_nontcga_ALL=0.1338;ExAC_nontcga_AFR=0.0770;ExAC_nontcga_AMR=0.2960;ExAC_nontcga_EAS=0.3893;ExAC_nontcga_FIN=0.1262;ExAC_nontcga_NFE=0.0828;ExAC_nontcga_OTH=0.1019;ExAC_nontcga_SAS=0.1004;AF=0.1028;AF_popmax=0.3816;AF_male=0.1053;AF_female=0.0997;AF_raw=0.1031;AF_afr=0.0780;AF_sas=.;AF_amr=0.2370;AF_eas=0.3816;AF_nfe=0.0771;AF_fin=0.1218;AF_asj=0.0759;AF_oth=0.1116;non_topmed_AF_popmax=0.3859;non_neuro_AF_popmax=0.3816;non_cancer_AF_popmax=.;controls_AF_popmax=0.3797;Kaviar_AF=0.0039715;Kaviar_AC=614;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116158|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1899960|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.404549;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 +6 129634255 rs3798663 G A 100 PASS AC=20;AF=0.355232;AN=214;NS=2504;DP=19837;EAS_AF=0.5288;AMR_AF=0.3098;AFR_AF=0.5212;EUR_AF=0.1213;SAS_AF=0.2249;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.355232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3798663;CLNALLELEID=98858;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1241;ExAC_nontcga_ALL=0.2242;ExAC_nontcga_AFR=0.4592;ExAC_nontcga_AMR=0.3539;ExAC_nontcga_EAS=0.5567;ExAC_nontcga_FIN=0.1563;ExAC_nontcga_NFE=0.1212;ExAC_nontcga_OTH=0.1748;ExAC_nontcga_SAS=0.2075;AF=0.2443;AF_popmax=0.5461;AF_male=0.2532;AF_female=0.2332;AF_raw=0.2445;AF_afr=0.4618;AF_sas=.;AF_amr=0.3156;AF_eas=0.5461;AF_nfe=0.1175;AF_fin=0.1454;AF_asj=0.1172;AF_oth=0.1710;non_topmed_AF_popmax=0.5485;non_neuro_AF_popmax=0.5461;non_cancer_AF_popmax=.;controls_AF_popmax=0.5477;Kaviar_AF=0.205748;Kaviar_AC=31809;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116158|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1899960|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.711048;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 +6 129635800 rs2306942 G A 100 PASS AC=7;AF=0.120008;AN=214;NS=2504;DP=16729;EAS_AF=0.1111;AMR_AF=0.0562;AFR_AF=0.2186;EUR_AF=0.0427;SAS_AF=0.1207;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon24:c.G3412A:p.V1138M,LAMA2:NM_001079823:exon24:c.G3412A:p.V1138M;1000g2015aug_all=0.120008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306942;CLNALLELEID=98859;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.07;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_rankscore=0.236;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_converted_rankscore=0.302;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_converted_rankscore=0.445;MutationTaster_pred=P;MutationAssessor_score=1.685;MutationAssessor_score_rankscore=0.434;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.547;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.026;MetaSVM_score=-1.053;MetaSVM_rankscore=0.136;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.283;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.722;CADD_raw_rankscore=0.388;CADD_phred=20.9;DANN_score=0.997;DANN_rankscore=0.811;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.520;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.030;Eigen-PC-raw=0.108;GenoCanyon_score=0.994;GenoCanyon_score_rankscore=0.335;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=3.149;phyloP100way_vertebrate_rankscore=0.501;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=8.921;SiPhy_29way_logOdds_rankscore=0.346;Interpro_domain=Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0857;dbscSNV_RF_SCORE=0.288;esp6500siv2_ea=0.0469;ExAC_nontcga_ALL=0.0698;ExAC_nontcga_AFR=0.1951;ExAC_nontcga_AMR=0.0503;ExAC_nontcga_EAS=0.1529;ExAC_nontcga_FIN=0.0308;ExAC_nontcga_NFE=0.0408;ExAC_nontcga_OTH=0.0625;ExAC_nontcga_SAS=0.0868;AF=0.0847;AF_popmax=0.1869;AF_male=0.0865;AF_female=0.0825;AF_raw=0.0849;AF_afr=0.1869;AF_sas=.;AF_amr=0.0649;AF_eas=0.1457;AF_nfe=0.0396;AF_fin=0.0230;AF_asj=0.0379;AF_oth=0.0442;non_topmed_AF_popmax=0.1886;non_neuro_AF_popmax=0.1864;non_cancer_AF_popmax=.;controls_AF_popmax=0.1875;Kaviar_AF=0.066047;Kaviar_AC=10211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.447159;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129636606 rs17741922 T G 100 PASS AC=1;AF=0.0081869;AN=214;NS=2504;DP=20637;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0.0368;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17741922;CLNALLELEID=98860;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.005;ExAC_nontcga_ALL=0.0099;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0115;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0286;AF=0.0045;AF_popmax=0.0054;AF_male=0.0040;AF_female=0.0051;AF_raw=0.0045;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0127;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0085381;Kaviar_AC=1320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.614197;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129637037 rs199833683 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19483;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon26:c.G3866A:p.R1289K,LAMA2:NM_001079823:exon26:c.G3866A:p.R1289K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199833683;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.417;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.406;Polyphen2_HDIV_rankscore=0.362;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.341;Polyphen2_HVAR_rankscore=0.449;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_converted_rankscore=0.439;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_score_rankscore=0.569;MutationAssessor_pred=M;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_converted_rankscore=0.172;PROVEAN_pred=N;VEST3_score=0.629;VEST3_rankscore=0.648;MetaSVM_score=-1.110;MetaSVM_rankscore=0.031;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.282;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.200;M-CAP_pred=T;REVEL_score=0.111;REVEL_rankscore=0.318;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.218;CADD_raw_rankscore=0.565;CADD_phred=23.9;DANN_score=0.987;DANN_rankscore=0.446;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.669;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.246;Eigen-PC-raw=0.351;GenoCanyon_score=0.989;GenoCanyon_score_rankscore=0.317;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=4.67;GERP++_RS_rankscore=0.579;phyloP100way_vertebrate=4.446;phyloP100way_vertebrate_rankscore=0.595;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.920;phastCons20way_mammalian_rankscore=0.395;SiPhy_29way_logOdds=15.324;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=Laminin_IV;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.708442;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129663463 rs200038968 ACTT A 100 PASS AC=6;AF=0.00579073;AN=214;NS=2504;DP=19907;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0008;EUR_AF=0.0129;SAS_AF=0.002;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs398123374;CLNALLELEID=98864;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0143;ExAC_nontcga_ALL=0.0097;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0150;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0082;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0071;AF=0.0098;AF_popmax=0.0147;AF_male=0.0093;AF_female=0.0103;AF_raw=0.0098;AF_afr=0.0028;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0147;AF_fin=0.0089;AF_asj=0.0103;AF_oth=0.0147;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0153;non_cancer_AF_popmax=.;controls_AF_popmax=0.0174;Kaviar_AF=0.0002329;Kaviar_AC=36;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.910643;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670438 rs41285288 T A 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=14382;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41285288;CLNALLELEID=98865;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.8827;dbscSNV_RF_SCORE=0.572;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0055;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0026;ExAC_nontcga_NFE=0.0084;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0033;AF=0.0051;AF_popmax=0.0080;AF_male=0.0048;AF_female=0.0055;AF_raw=0.0051;AF_afr=0.0020;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0026;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0077;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0045;Kaviar_AF=0.0059249;Kaviar_AC=916;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.367174;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670476 rs35089085 C T 100 PASS AC=1;AF=0.00299521;AN=214;NS=2504;DP=14056;EAS_AF=0.001;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0089;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon31:c.C4470T:p.D1490D,LAMA2:NM_001079823:exon31:c.C4470T:p.D1490D;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35089085;CLNALLELEID=98866;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0053;ExAC_nontcga_AFR=0.0015;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0024;ExAC_nontcga_NFE=0.0082;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0022;AF=0.0050;AF_popmax=0.0078;AF_male=0.0046;AF_female=0.0055;AF_raw=0.0050;AF_afr=0.0020;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0023;AF_asj=0.0103;AF_oth=0.0037;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0056856;Kaviar_AC=879;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.368198;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670493 rs147077184 C T 100 PASS AC=3;AF=0.00279553;AN=214;NS=2504;DP=13710;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon31:c.C4487T:p.A1496V,LAMA2:NM_001079823:exon31:c.C4487T:p.A1496V;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147077184;CLNALLELEID=193821;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23|not_provided;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN257926,OMIM:618138|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_converted_rankscore=0.586;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.875;MutationAssessor_score_rankscore=0.501;MutationAssessor_pred=L;FATHMM_score=0.01;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_converted_rankscore=0.659;PROVEAN_pred=D;VEST3_score=0.713;VEST3_rankscore=0.714;MetaSVM_score=-0.550;MetaSVM_rankscore=0.668;MetaSVM_pred=T;MetaLR_score=0.292;MetaLR_rankscore=0.664;MetaLR_pred=T;M-CAP_score=0.090;M-CAP_rankscore=0.756;M-CAP_pred=D;REVEL_score=0.707;REVEL_rankscore=0.897;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.746;CADD_raw_rankscore=0.785;CADD_phred=26.9;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.799;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.310;Eigen-PC-raw=0.221;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=4.298;phyloP100way_vertebrate_rankscore=0.586;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.039;phastCons20way_mammalian_rankscore=0.156;SiPhy_29way_logOdds=16.359;SiPhy_29way_logOdds_rankscore=0.830;Interpro_domain=EGF-like_domain|Laminin_EGF_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0044;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0021;AF_popmax=0.0027;AF_male=0.0020;AF_female=0.0022;AF_raw=0.0021;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0027;AF_fin=0.0023;AF_asj=0.0207;AF_oth=0.0046;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0032018;Kaviar_AC=495;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.554363;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129670548 rs17057158 C T 100 PASS AC=13;AF=0.0970447;AN=214;NS=2504;DP=13968;EAS_AF=0.0466;AMR_AF=0.147;AFR_AF=0.1135;EUR_AF=0.0706;SAS_AF=0.1186;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0970447;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17057158;CLNALLELEID=98867;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0613;ExAC_nontcga_ALL=0.0887;ExAC_nontcga_AFR=0.1143;ExAC_nontcga_AMR=0.1926;ExAC_nontcga_EAS=0.0302;ExAC_nontcga_FIN=0.0481;ExAC_nontcga_NFE=0.0639;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1294;AF=0.0729;AF_popmax=0.1615;AF_male=0.0699;AF_female=0.0766;AF_raw=0.0730;AF_afr=0.1116;AF_sas=.;AF_amr=0.1615;AF_eas=0.0295;AF_nfe=0.0545;AF_fin=0.0523;AF_asj=0.0972;AF_oth=0.0755;non_topmed_AF_popmax=0.1629;non_neuro_AF_popmax=0.1527;non_cancer_AF_popmax=.;controls_AF_popmax=0.1223;Kaviar_AF=0.0816872;Kaviar_AC=12629;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129674561 rs3841288 TC T 100 PASS AC=13;AF=0.116813;AN=214;NS=2504;DP=16817;EAS_AF=0.0516;AMR_AF=0.1715;AFR_AF=0.1717;EUR_AF=0.0706;SAS_AF=0.1186;AA=CC|CC|C|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.116813;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3841288;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0922;AF_popmax=0.1823;AF_male=0.0902;AF_female=0.0946;AF_raw=0.0948;AF_afr=0.1823;AF_sas=.;AF_amr=0.1695;AF_eas=0.0431;AF_nfe=0.0526;AF_fin=0.0493;AF_asj=0.0966;AF_oth=0.0772;non_topmed_AF_popmax=0.1822;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1893;Kaviar_AF=0.0188259;Kaviar_AC=490;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001116164|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.094876;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129687396 rs117781224 G A 100 PASS AC=4;AF=0.0101837;AN=214;NS=2504;DP=19267;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.0023;EUR_AF=0.0318;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon33:c.G4750A:p.G1584S,LAMA2:NM_001079823:exon33:c.G4750A:p.G1584S;1000g2015aug_all=0.0101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117781224;CLNALLELEID=98869;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.263;SIFT_converted_rankscore=0.164;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.341;LRT_pred=N;MutationTaster_score=0.928;MutationTaster_converted_rankscore=0.271;MutationTaster_pred=N;MutationAssessor_score=0.97;MutationAssessor_score_rankscore=0.241;MutationAssessor_pred=L;FATHMM_score=1.52;FATHMM_converted_rankscore=0.307;FATHMM_pred=T;PROVEAN_score=0.08;PROVEAN_converted_rankscore=0.060;PROVEAN_pred=N;VEST3_score=0.033;VEST3_rankscore=0.021;MetaSVM_score=-1.015;MetaSVM_rankscore=0.254;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.061;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.090;REVEL_rankscore=0.266;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.753;CADD_raw_rankscore=0.392;CADD_phred=21.1;DANN_score=0.982;DANN_rankscore=0.390;fathmm-MKL_coding_score=0.509;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.361;Eigen-PC-raw=-0.185;GenoCanyon_score=0.018;GenoCanyon_score_rankscore=0.130;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.49;GERP++_RS_rankscore=0.389;phyloP100way_vertebrate=1.148;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=0.729;phastCons100way_vertebrate_rankscore=0.287;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=6.326;SiPhy_29way_logOdds_rankscore=0.203;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0330;ExAC_nontcga_ALL=0.0184;ExAC_nontcga_AFR=0.0067;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0117;ExAC_nontcga_NFE=0.0280;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0110;AF=0.0177;AF_popmax=0.0282;AF_male=0.0184;AF_female=0.0169;AF_raw=0.0177;AF_afr=0.0053;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0282;AF_fin=0.0115;AF_asj=0.0276;AF_oth=0.0193;non_topmed_AF_popmax=0.0272;non_neuro_AF_popmax=0.0275;non_cancer_AF_popmax=.;controls_AF_popmax=0.0229;Kaviar_AF=0.020362;Kaviar_AC=3148;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.820159;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129691132 rs17057184 C G 100 PASS AC=13;AF=0.0966454;AN=214;NS=2504;DP=18463;EAS_AF=0.0466;AMR_AF=0.1484;AFR_AF=0.1104;EUR_AF=0.0706;SAS_AF=0.1196;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon34:c.C4956G:p.T1652T,LAMA2:NM_001079823:exon34:c.C4956G:p.T1652T;1000g2015aug_all=0.0966454;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17057184;CLNALLELEID=98870;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0615;ExAC_nontcga_ALL=0.0883;ExAC_nontcga_AFR=0.1113;ExAC_nontcga_AMR=0.1932;ExAC_nontcga_EAS=0.0294;ExAC_nontcga_FIN=0.0477;ExAC_nontcga_NFE=0.0637;ExAC_nontcga_OTH=0.0980;ExAC_nontcga_SAS=0.1298;AF=0.0717;AF_popmax=0.1639;AF_male=0.0685;AF_female=0.0756;AF_raw=0.0717;AF_afr=0.1079;AF_sas=.;AF_amr=0.1639;AF_eas=0.0288;AF_nfe=0.0543;AF_fin=0.0518;AF_asj=0.0966;AF_oth=0.0744;non_topmed_AF_popmax=0.1654;non_neuro_AF_popmax=0.1570;non_cancer_AF_popmax=.;controls_AF_popmax=0.1301;Kaviar_AF=0.0823793;Kaviar_AC=12736;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.647413;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129704460 rs189043247 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19430;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189043247;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.344e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.257030;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129722389 rs3749877 A G 100 PASS AC=99;AF=0.544529;AN=214;NS=2504;DP=20266;EAS_AF=0.5516;AMR_AF=0.4683;AFR_AF=0.6581;EUR_AF=0.4632;SAS_AF=0.5215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.A5466G:p.E1822E,LAMA2:NM_001079823:exon38:c.A5466G:p.E1822E;1000g2015aug_all=0.544529;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3749877;CLNALLELEID=98873;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4653;ExAC_nontcga_ALL=0.4993;ExAC_nontcga_AFR=0.6242;ExAC_nontcga_AMR=0.4699;ExAC_nontcga_EAS=0.5734;ExAC_nontcga_FIN=0.4626;ExAC_nontcga_NFE=0.4667;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.5381;AF=0.5107;AF_popmax=0.6235;AF_male=0.5116;AF_female=0.5095;AF_raw=0.5106;AF_afr=0.6235;AF_sas=.;AF_amr=0.4847;AF_eas=0.5792;AF_nfe=0.4537;AF_fin=0.4600;AF_asj=0.5769;AF_oth=0.4834;non_topmed_AF_popmax=0.6250;non_neuro_AF_popmax=0.625;non_cancer_AF_popmax=.;controls_AF_popmax=0.6208;Kaviar_AF=0.489541;Kaviar_AC=75684;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.315909;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129722425 rs3749878 G A 100 PASS AC=99;AF=0.543331;AN=214;NS=2504;DP=20575;EAS_AF=0.5466;AMR_AF=0.4683;AFR_AF=0.6581;EUR_AF=0.4622;SAS_AF=0.5215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.G5502A:p.E1834E,LAMA2:NM_001079823:exon38:c.G5502A:p.E1834E;1000g2015aug_all=0.543331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3749878;CLNALLELEID=98874;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4641;ExAC_nontcga_ALL=0.4974;ExAC_nontcga_AFR=0.6240;ExAC_nontcga_AMR=0.4687;ExAC_nontcga_EAS=0.5720;ExAC_nontcga_FIN=0.4567;ExAC_nontcga_NFE=0.4642;ExAC_nontcga_OTH=0.4971;ExAC_nontcga_SAS=0.5379;AF=0.5084;AF_popmax=0.6237;AF_male=0.5092;AF_female=0.5074;AF_raw=0.5082;AF_afr=0.6237;AF_sas=.;AF_amr=0.4787;AF_eas=0.5783;AF_nfe=0.4510;AF_fin=0.4545;AF_asj=0.5729;AF_oth=0.4797;non_topmed_AF_popmax=0.6252;non_neuro_AF_popmax=0.625;non_cancer_AF_popmax=.;controls_AF_popmax=0.6210;Kaviar_AF=0.487141;Kaviar_AC=75313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.426074;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129722453 rs56173620 C A 100 PASS AC=1;AF=0.00499201;AN=214;NS=2504;DP=20618;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0199;SAS_AF=0.002;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.C5530A:p.R1844S,LAMA2:NM_001079823:exon38:c.C5530A:p.R1844S;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56173620;CLNALLELEID=98875;CLNDN=Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.729;SIFT_converted_rankscore=0.038;SIFT_pred=T;Polyphen2_HDIV_score=0.085;Polyphen2_HDIV_rankscore=0.233;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.059;Polyphen2_HVAR_rankscore=0.252;Polyphen2_HVAR_pred=B;LRT_score=0.157;LRT_converted_rankscore=0.178;LRT_pred=N;MutationTaster_score=0.974;MutationTaster_converted_rankscore=0.255;MutationTaster_pred=N;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_converted_rankscore=0.221;FATHMM_pred=T;PROVEAN_score=0.71;PROVEAN_converted_rankscore=0.021;PROVEAN_pred=N;VEST3_score=0.194;VEST3_rankscore=0.238;MetaSVM_score=-0.960;MetaSVM_rankscore=0.393;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.041;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.035;REVEL_rankscore=0.091;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.879;CADD_raw_rankscore=0.407;CADD_phred=21.8;DANN_score=0.975;DANN_rankscore=0.336;fathmm-MKL_coding_score=0.146;fathmm-MKL_coding_rankscore=0.183;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.539;Eigen-PC-raw=-0.404;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.4;GERP++_RS_rankscore=0.522;phyloP100way_vertebrate=0.873;phyloP100way_vertebrate_rankscore=0.275;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=0.010;phastCons100way_vertebrate_rankscore=0.182;phastCons20way_mammalian=0.930;phastCons20way_mammalian_rankscore=0.404;SiPhy_29way_logOdds=8.784;SiPhy_29way_logOdds_rankscore=0.338;Interpro_domain=Laminin_alpha,_domain_I;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0171;ExAC_nontcga_ALL=0.0102;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0053;ExAC_nontcga_NFE=0.0171;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0024;AF=0.0103;AF_popmax=0.0160;AF_male=0.0102;AF_female=0.0103;AF_raw=0.0102;AF_afr=0.0036;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0160;AF_fin=0.0072;AF_asj=0;AF_oth=0.0110;non_topmed_AF_popmax=0.0172;non_neuro_AF_popmax=0.0153;non_cancer_AF_popmax=.;controls_AF_popmax=0.0152;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.446649;ALLELE_END;VINYL_score=0.5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129722481 rs141911213 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20643;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.T5558G:p.I1853R,LAMA2:NM_001079823:exon38:c.T5558G:p.I1853R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141911213;CLNALLELEID=298963;CLNDN=Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.714;Polyphen2_HDIV_rankscore=0.402;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.34;Polyphen2_HVAR_rankscore=0.406;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.348;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.475;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=1.95;FATHMM_converted_rankscore=0.225;FATHMM_pred=T;PROVEAN_score=-1.98;PROVEAN_converted_rankscore=0.457;PROVEAN_pred=N;VEST3_score=0.678;VEST3_rankscore=0.686;MetaSVM_score=-1.039;MetaSVM_rankscore=0.176;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.016;M-CAP_rankscore=0.371;M-CAP_pred=T;REVEL_score=0.120;REVEL_rankscore=0.339;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.035;CADD_raw_rankscore=0.425;CADD_phred=22.3;DANN_score=0.962;DANN_rankscore=0.285;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.763;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.018;Eigen-PC-raw=0.042;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.43;GERP++_RS_rankscore=0.789;phyloP100way_vertebrate=2.878;phyloP100way_vertebrate_rankscore=0.480;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.753;phastCons20way_mammalian_rankscore=0.322;SiPhy_29way_logOdds=10.944;SiPhy_29way_logOdds_rankscore=0.463;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.459482;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129724942 rs3828735 T A 100 PASS AC=96;AF=0.539936;AN=214;NS=2504;DP=17023;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6551;EUR_AF=0.4553;SAS_AF=0.5194;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.539936;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3828735;CLNALLELEID=252099;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1772;ExAC_nontcga_ALL=0.4892;ExAC_nontcga_AFR=0.6205;ExAC_nontcga_AMR=0.4599;ExAC_nontcga_EAS=0.5633;ExAC_nontcga_FIN=0.4470;ExAC_nontcga_NFE=0.4540;ExAC_nontcga_OTH=0.4942;ExAC_nontcga_SAS=0.5345;AF=0.5007;AF_popmax=0.6183;AF_male=0.5009;AF_female=0.5005;AF_raw=0.5021;AF_afr=0.6183;AF_sas=.;AF_amr=0.4740;AF_eas=0.5723;AF_nfe=0.4418;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4730;non_topmed_AF_popmax=0.6198;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.418009;Kaviar_AC=64625;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129724944 rs80125253 C T 100 PASS AC=96;AF=0.540735;AN=214;NS=2504;DP=17092;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6566;EUR_AF=0.4563;SAS_AF=0.5204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs80125253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.4893;ExAC_nontcga_AFR=0.6205;ExAC_nontcga_AMR=0.4599;ExAC_nontcga_EAS=0.5631;ExAC_nontcga_FIN=0.4470;ExAC_nontcga_NFE=0.4542;ExAC_nontcga_OTH=0.4928;ExAC_nontcga_SAS=0.5345;AF=0.5010;AF_popmax=0.6185;AF_male=0.5010;AF_female=0.5009;AF_raw=0.5021;AF_afr=0.6185;AF_sas=.;AF_amr=0.4751;AF_eas=0.5745;AF_nfe=0.4418;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4739;non_topmed_AF_popmax=0.62;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.417866;Kaviar_AC=64603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129724945 rs76902576 T G 100 PASS AC=96;AF=0.540735;AN=214;NS=2504;DP=17385;EAS_AF=0.5437;AMR_AF=0.4669;AFR_AF=0.6566;EUR_AF=0.4563;SAS_AF=0.5204;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76902576;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.4893;ExAC_nontcga_AFR=0.6208;ExAC_nontcga_AMR=0.4597;ExAC_nontcga_EAS=0.5637;ExAC_nontcga_FIN=0.4471;ExAC_nontcga_NFE=0.4541;ExAC_nontcga_OTH=0.4927;ExAC_nontcga_SAS=0.5345;AF=0.5007;AF_popmax=0.6183;AF_male=0.5010;AF_female=0.5004;AF_raw=0.5021;AF_afr=0.6183;AF_sas=.;AF_amr=0.4740;AF_eas=0.5738;AF_nfe=0.4417;AF_fin=0.4483;AF_asj=0.5563;AF_oth=0.4730;non_topmed_AF_popmax=0.6198;non_neuro_AF_popmax=0.6184;non_cancer_AF_popmax=.;controls_AF_popmax=0.6158;Kaviar_AF=0.417866;Kaviar_AC=64603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.015877;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 1|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129748836 rs139869063 G A 100 PASS AC=3;AF=0.00359425;AN=214;NS=2504;DP=20701;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139869063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0067;AF_popmax=0.0100;AF_male=0.0070;AF_female=0.0063;AF_raw=0.0067;AF_afr=0.0015;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0081;AF_asj=0;AF_oth=0.0092;non_topmed_AF_popmax=0.0093;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0014359;Kaviar_AC=222;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129749070 rs546398158 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19009;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs546398158;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.839996;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129759802 rs186382094 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15158;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon42:c.C5980A:p.H1994N,LAMA2:NM_001079823:exon42:c.C5980A:p.H1994N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186382094;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.717;SIFT_converted_rankscore=0.040;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_converted_rankscore=0.094;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_score_rankscore=0.024;MutationAssessor_pred=N;FATHMM_score=2.07;FATHMM_converted_rankscore=0.204;FATHMM_pred=T;PROVEAN_score=0.97;PROVEAN_converted_rankscore=0.015;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.009;MetaSVM_score=-0.909;MetaSVM_rankscore=0.469;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.026;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.102;M-CAP_pred=T;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.288;DANN_score=0.597;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.107;Eigen-PC-raw=-1.083;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.056;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-1.82;GERP++_RS_rankscore=0.074;phyloP100way_vertebrate=-0.156;phyloP100way_vertebrate_rankscore=0.100;phyloP20way_mammalian=-0.578;phyloP20way_mammalian_rankscore=0.045;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.109;phastCons20way_mammalian_rankscore=0.192;SiPhy_29way_logOdds=7.259;SiPhy_29way_logOdds_rankscore=0.252;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.847e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.545e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.364494;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762036 rs56035053 A G 100 PASS AC=3;AF=0.00119808;AN=214;NS=2504;DP=20171;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.A6161G:p.Q2054R,LAMA2:NM_001079823:exon43:c.A6161G:p.Q2054R;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56035053;CLNALLELEID=194639;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.43;SIFT_converted_rankscore=0.095;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=N;MutationTaster_score=0.835;MutationTaster_converted_rankscore=0.287;MutationTaster_pred=N;MutationAssessor_score=-0.18;MutationAssessor_score_rankscore=0.042;MutationAssessor_pred=N;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-0.14;PROVEAN_converted_rankscore=0.092;PROVEAN_pred=N;VEST3_score=0.19;VEST3_rankscore=0.232;MetaSVM_score=-0.991;MetaSVM_rankscore=0.325;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.103;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.126;M-CAP_pred=T;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.014;CADD_raw_rankscore=0.092;CADD_phred=2.456;DANN_score=0.961;DANN_rankscore=0.282;fathmm-MKL_coding_score=0.470;fathmm-MKL_coding_rankscore=0.276;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.469;Eigen-PC-raw=-0.326;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.392;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=3.950;phyloP100way_vertebrate_rankscore=0.561;phyloP20way_mammalian=1.028;phyloP20way_mammalian_rankscore=0.649;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.212;phastCons20way_mammalian_rankscore=0.220;SiPhy_29way_logOdds=7.868;SiPhy_29way_logOdds_rankscore=0.285;Interpro_domain=Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.1e-05;AF=0.0006;AF_popmax=0.0010;AF_male=0.0007;AF_female=0.0004;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0011;non_neuro_AF_popmax=0.0011;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.488683;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762062 rs187633696 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19954;EAS_AF=0.001;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6187A:p.D2063N,LAMA2:NM_001079823:exon43:c.G6187A:p.D2063N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs187633696;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.353;SIFT_converted_rankscore=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.672;Polyphen2_HDIV_rankscore=0.393;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.226;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.699;LRT_converted_rankscore=0.101;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.24;MutationAssessor_score_rankscore=0.311;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_converted_rankscore=0.221;FATHMM_pred=T;PROVEAN_score=-0.02;PROVEAN_converted_rankscore=0.073;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.003;MetaSVM_rankscore=0.292;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_rankscore=0.051;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.278;M-CAP_pred=T;REVEL_score=0.029;REVEL_rankscore=0.069;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.360;CADD_raw_rankscore=0.345;CADD_phred=18.56;DANN_score=0.993;DANN_rankscore=0.570;fathmm-MKL_coding_score=0.084;fathmm-MKL_coding_rankscore=0.141;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.291;Eigen-PC-raw=-0.265;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.616;integrated_fitCons_score_rankscore=0.392;integrated_confidence_value=0;GERP++_RS=3.61;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=0.676;phyloP100way_vertebrate_rankscore=0.247;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.959;phastCons20way_mammalian_rankscore=0.439;SiPhy_29way_logOdds=4.676;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=Laminin_domain_II;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.831e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.541478;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129762112 rs2297738 G A 100 PASS AC=30;AF=0.182508;AN=214;NS=2504;DP=21579;EAS_AF=0.2202;AMR_AF=0.2334;AFR_AF=0.1536;EUR_AF=0.1551;SAS_AF=0.1748;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T;1000g2015aug_all=0.182508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297738;CLNALLELEID=98882;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1457;ExAC_nontcga_ALL=0.1702;ExAC_nontcga_AFR=0.1377;ExAC_nontcga_AMR=0.2268;ExAC_nontcga_EAS=0.2187;ExAC_nontcga_FIN=0.2155;ExAC_nontcga_NFE=0.1516;ExAC_nontcga_OTH=0.1720;ExAC_nontcga_SAS=0.1701;AF=0.1652;AF_popmax=0.2117;AF_male=0.1661;AF_female=0.1640;AF_raw=0.1651;AF_afr=0.1281;AF_sas=.;AF_amr=0.2040;AF_eas=0.2117;AF_nfe=0.1696;AF_fin=0.2046;AF_asj=0.1241;AF_oth=0.1860;non_topmed_AF_popmax=0.2131;non_neuro_AF_popmax=0.2117;non_cancer_AF_popmax=.;controls_AF_popmax=0.2052;Kaviar_AF=0.1658;Kaviar_AC=25633;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.406276;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129763248 rs570221642 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17900;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570221642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.189e-05;AF_popmax=6.491e-05;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.491e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.035e-05;non_neuro_AF_popmax=7.355e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129774077 rs564161190 C T 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19231;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs564161190;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.863054;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129775470 rs2297742 T C 100 PASS AC=28;AF=0.172324;AN=214;NS=2504;DP=16759;EAS_AF=0.2282;AMR_AF=0.219;AFR_AF=0.1505;EUR_AF=0.1282;SAS_AF=0.1564;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.172324;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2297742;CLNALLELEID=252104;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1206;ExAC_nontcga_ALL=0.1698;ExAC_nontcga_AFR=0.1490;ExAC_nontcga_AMR=0.2427;ExAC_nontcga_EAS=0.2563;ExAC_nontcga_FIN=0.1744;ExAC_nontcga_NFE=0.1458;ExAC_nontcga_OTH=0.1585;ExAC_nontcga_SAS=0.1645;AF=0.1396;AF_popmax=0.2143;AF_male=0.1411;AF_female=0.1378;AF_raw=0.1396;AF_afr=0.1248;AF_sas=.;AF_amr=0.1879;AF_eas=0.2143;AF_nfe=0.1348;AF_fin=0.1487;AF_asj=0.1034;AF_oth=0.1618;non_topmed_AF_popmax=0.2157;non_neuro_AF_popmax=0.2143;non_cancer_AF_popmax=.;controls_AF_popmax=0.2022;Kaviar_AF=0.142049;Kaviar_AC=21961;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.001769;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129781525 rs150868009 A T 100 PASS AC=3;AF=0.00658946;AN=214;NS=2504;DP=19057;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0023;EUR_AF=0.0229;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00658946;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150868009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0103;AF_popmax=0.0155;AF_male=0.0108;AF_female=0.0097;AF_raw=0.0103;AF_afr=0.0022;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0155;AF_fin=0.0127;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0150;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.002044;Kaviar_AC=316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805051|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.174418;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 129785391 rs1414736 T C 100 PASS AC=123;AF=0.660942;AN=214;NS=2504;DP=20910;EAS_AF=0.5516;AMR_AF=0.634;AFR_AF=0.8601;EUR_AF=0.5795;SAS_AF=0.6074;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.660942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1414736;CLNALLELEID=252105;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5763;ExAC_nontcga_ALL=0.6123;ExAC_nontcga_AFR=0.8232;ExAC_nontcga_AMR=0.6468;ExAC_nontcga_EAS=0.5543;ExAC_nontcga_FIN=0.5694;ExAC_nontcga_NFE=0.5780;ExAC_nontcga_OTH=0.5994;ExAC_nontcga_SAS=0.6308;AF=0.6413;AF_popmax=0.8145;AF_male=0.6439;AF_female=0.6379;AF_raw=0.6409;AF_afr=0.8145;AF_sas=.;AF_amr=0.6466;AF_eas=0.5613;AF_nfe=0.5723;AF_fin=0.5570;AF_asj=0.6483;AF_oth=0.6077;non_topmed_AF_popmax=0.8149;non_neuro_AF_popmax=0.8051;non_cancer_AF_popmax=.;controls_AF_popmax=0.8083;Kaviar_AF=0.596532;Kaviar_AC=92225;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|0 1|0 1|1 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|0 1|0 0|1 0|0 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 1|0 1|0 0|0 1|1 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 0|0 1|1 0|1 1|1 0|0 0|0 0|1 1|1 0|0 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 1|1 1|0 1|1 0|0 1|1 1|0 0|0 1|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129796620 rs7741996 C T 100 PASS AC=97;AF=0.408347;AN=214;NS=2504;DP=17265;EAS_AF=0.2956;AMR_AF=0.3804;AFR_AF=0.4887;EUR_AF=0.4105;SAS_AF=0.4335;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.408347;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7741996;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4104;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4033;AF_popmax=0.4575;AF_male=0.4035;AF_female=0.4030;AF_raw=0.4025;AF_afr=0.4575;AF_sas=.;AF_amr=0.4167;AF_eas=0.3190;AF_nfe=0.3865;AF_fin=0.3630;AF_asj=0.5903;AF_oth=0.3976;non_topmed_AF_popmax=0.4582;non_neuro_AF_popmax=0.4498;non_cancer_AF_popmax=.;controls_AF_popmax=0.4424;Kaviar_AF=0.0780326;Kaviar_AC=12064;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805056|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.104293;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 1|1 0|1 1|0 0|1 0|1 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|0 0|1 1|1 1|0 1|1 0|0 0|0 0|1 1|1 0|0 0|0 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 1|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 +6 129807629 rs2229848 C T 100 PASS AC=160;AF=0.583866;AN=214;NS=2504;DP=18582;EAS_AF=0.6369;AMR_AF=0.6239;AFR_AF=0.41;EUR_AF=0.7177;SAS_AF=0.5982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V;1000g2015aug_all=0.583866;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229848;CLNALLELEID=177814;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.056;SIFT_converted_rankscore=0.381;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_rankscore=0.695;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=2.395;MutationAssessor_score_rankscore=0.694;MutationAssessor_pred=M;FATHMM_score=-1.2;FATHMM_converted_rankscore=0.785;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_converted_rankscore=0.615;PROVEAN_pred=D;VEST3_score=0.862;VEST3_rankscore=0.849;MetaSVM_score=0.056;MetaSVM_rankscore=0.834;MetaSVM_pred=D;MetaLR_score=0.584;MetaLR_rankscore=0.851;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.605;REVEL_rankscore=0.847;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.378;CADD_raw_rankscore=0.950;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.708;Eigen-PC-raw=0.692;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.6;GERP++_RS_rankscore=0.849;phyloP100way_vertebrate=4.629;phyloP100way_vertebrate_rankscore=0.608;phyloP20way_mammalian=0.807;phyloP20way_mammalian_rankscore=0.329;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.894;phastCons20way_mammalian_rankscore=0.377;SiPhy_29way_logOdds=19.974;SiPhy_29way_logOdds_rankscore=0.973;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7265;ExAC_nontcga_ALL=0.6642;ExAC_nontcga_AFR=0.4551;ExAC_nontcga_AMR=0.6739;ExAC_nontcga_EAS=0.6019;ExAC_nontcga_FIN=0.6464;ExAC_nontcga_NFE=0.7133;ExAC_nontcga_OTH=0.6888;ExAC_nontcga_SAS=0.6461;AF=0.6288;AF_popmax=0.7162;AF_male=0.6254;AF_female=0.6330;AF_raw=0.6283;AF_afr=0.4532;AF_sas=.;AF_amr=0.6856;AF_eas=0.6179;AF_nfe=0.7162;AF_fin=0.6521;AF_asj=0.7448;AF_oth=0.6575;non_topmed_AF_popmax=0.7142;non_neuro_AF_popmax=0.7152;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.664092;Kaviar_AC=102670;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0456106|N/A|CEBPB|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.660625;ALLELE_END;VINYL_score=4 GT 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 +6 129807697 rs200710385 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19717;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7816A:p.V2606M,LAMA2:NM_000426:exon56:c.G7828A:p.V2610M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200710385;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.839;Polyphen2_HVAR_rankscore=0.583;Polyphen2_HVAR_pred=P;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=0.870;MutationTaster_converted_rankscore=0.355;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=-1.13;FATHMM_converted_rankscore=0.777;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST3_score=0.231;VEST3_rankscore=0.283;MetaSVM_score=-0.324;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_rankscore=0.720;MetaLR_pred=T;M-CAP_score=0.049;M-CAP_rankscore=0.638;M-CAP_pred=D;REVEL_score=0.341;REVEL_rankscore=0.667;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.529;CADD_raw_rankscore=0.751;CADD_phred=26.3;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.729;fathmm-MKL_coding_rankscore=0.354;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.500;Eigen-PC-raw=0.492;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=2.974;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.862;phastCons20way_mammalian_rankscore=0.360;SiPhy_29way_logOdds=5.612;SiPhy_29way_logOdds_rankscore=0.166;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569754;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129807699 rs2229849 G C 100 PASS AC=160;AF=0.584265;AN=214;NS=2504;DP=19739;EAS_AF=0.6369;AMR_AF=0.6239;AFR_AF=0.4115;EUR_AF=0.7177;SAS_AF=0.5982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V;1000g2015aug_all=0.584265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229849;CLNALLELEID=98894;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7266;ExAC_nontcga_ALL=0.6645;ExAC_nontcga_AFR=0.4563;ExAC_nontcga_AMR=0.6742;ExAC_nontcga_EAS=0.6035;ExAC_nontcga_FIN=0.6461;ExAC_nontcga_NFE=0.7134;ExAC_nontcga_OTH=0.6888;ExAC_nontcga_SAS=0.6461;AF=0.6297;AF_popmax=0.7163;AF_male=0.6259;AF_female=0.6345;AF_raw=0.6293;AF_afr=0.4568;AF_sas=.;AF_amr=0.6872;AF_eas=0.6148;AF_nfe=0.7163;AF_fin=0.6518;AF_asj=0.7448;AF_oth=0.6575;non_topmed_AF_popmax=0.7144;non_neuro_AF_popmax=0.7154;non_cancer_AF_popmax=.;controls_AF_popmax=0.7154;Kaviar_AF=0.665295;Kaviar_AC=102856;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569754;ALLELE_END;VINYL_score=0 GT 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 1|0 0|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|0 0|0 0|1 1|1 0|1 1|1 1|1 0|0 1|1 1|0 0|1 1|1 1|1 0|0 1|1 1|1 1|1 1|1 1|1 +6 129807714 rs2229850 G A 100 PASS AC=46;AF=0.403754;AN=214;NS=2504;DP=19969;EAS_AF=0.3631;AMR_AF=0.3646;AFR_AF=0.5877;EUR_AF=0.2565;SAS_AF=0.3763;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P;1000g2015aug_all=0.403754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229850;CLNALLELEID=98895;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2488;ExAC_nontcga_ALL=0.3118;ExAC_nontcga_AFR=0.5404;ExAC_nontcga_AMR=0.3079;ExAC_nontcga_EAS=0.3983;ExAC_nontcga_FIN=0.3145;ExAC_nontcga_NFE=0.2617;ExAC_nontcga_OTH=0.2767;ExAC_nontcga_SAS=0.3133;AF=0.3518;AF_popmax=0.5393;AF_male=0.3576;AF_female=0.3446;AF_raw=0.3517;AF_afr=0.5393;AF_sas=.;AF_amr=0.3019;AF_eas=0.3845;AF_nfe=0.2601;AF_fin=0.3076;AF_asj=0.2207;AF_oth=0.3226;non_topmed_AF_popmax=0.5386;non_neuro_AF_popmax=0.5453;non_cancer_AF_popmax=.;controls_AF_popmax=0.5527;Kaviar_AF=0.302066;Kaviar_AC=46700;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805058|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.554154;ALLELE_END;VINYL_score=0 GT 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 129813043 rs549227397 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19511;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549227397;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0028;dbscSNV_RF_SCORE=0.176;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.222e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.338910;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813053 rs2244008 A G 100 PASS AC=10;AF=0.111621;AN=214;NS=2504;DP=19091;EAS_AF=0.1319;AMR_AF=0.0749;AFR_AF=0.121;EUR_AF=0.0686;SAS_AF=0.1483;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.A7894G:p.T2632A,LAMA2:NM_000426:exon57:c.A7906G:p.T2636A;1000g2015aug_all=0.111621;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2244008;CLNALLELEID=98896;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_rankscore=0.158;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.139;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.497;LRT_pred=D;MutationTaster_score=0.179;MutationTaster_converted_rankscore=0.348;MutationTaster_pred=P;MutationAssessor_score=1.265;MutationAssessor_score_rankscore=0.321;MutationAssessor_pred=L;FATHMM_score=-1.09;FATHMM_converted_rankscore=0.772;FATHMM_pred=T;PROVEAN_score=-3.06;PROVEAN_converted_rankscore=0.630;PROVEAN_pred=D;VEST3_score=0.067;VEST3_rankscore=0.064;MetaSVM_score=-0.687;MetaSVM_rankscore=0.611;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_rankscore=0.617;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.164;CADD_raw_rankscore=0.321;CADD_phred=17.27;DANN_score=0.991;DANN_rankscore=0.532;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_rankscore=0.403;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.006;Eigen-PC-raw=0.129;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=3.994;phyloP100way_vertebrate_rankscore=0.565;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=10.962;SiPhy_29way_logOdds_rankscore=0.464;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=ENSG00000233351.1;GTEx_V6p_tissue=Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0630;ExAC_nontcga_ALL=0.0955;ExAC_nontcga_AFR=0.1168;ExAC_nontcga_AMR=0.0767;ExAC_nontcga_EAS=0.1958;ExAC_nontcga_FIN=0.1133;ExAC_nontcga_NFE=0.0787;ExAC_nontcga_OTH=0.0878;ExAC_nontcga_SAS=0.0960;AF=0.0917;AF_popmax=0.1737;AF_male=0.0935;AF_female=0.0894;AF_raw=0.0918;AF_afr=0.1148;AF_sas=.;AF_amr=0.0719;AF_eas=0.1737;AF_nfe=0.0675;AF_fin=0.1115;AF_asj=0.0793;AF_oth=0.0884;non_topmed_AF_popmax=0.1722;non_neuro_AF_popmax=0.1737;non_cancer_AF_popmax=.;controls_AF_popmax=0.1707;Kaviar_AF=0.0845849;Kaviar_AC=13077;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.300311;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813175 rs35313209 T C 100 PASS AC=1;AF=0.0185703;AN=214;NS=2504;DP=16911;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0552;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.T8016C:p.N2672N,LAMA2:NM_000426:exon57:c.T8028C:p.N2676N;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35313209;CLNALLELEID=134889;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0125;ExAC_nontcga_AFR=0.0476;ExAC_nontcga_AMR=0.0054;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0138;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0024;AF=0.0212;AF_popmax=0.0496;AF_male=0.0205;AF_female=0.0220;AF_raw=0.0212;AF_afr=0.0496;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0184;non_topmed_AF_popmax=0.0495;non_neuro_AF_popmax=0.0485;non_cancer_AF_popmax=.;controls_AF_popmax=0.0470;Kaviar_AF=0.0131628;Kaviar_AC=2035;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.421703;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813288 rs563490057 A G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15113;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563490057;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.370312;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813429 rs142431635 T TA 100 PASS AC=5;AF=0.0129792;AN=214;NS=2504;DP=15764;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0212;EUR_AF=0.0139;SAS_AF=0.0041;AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0129792;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142431635;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0208;ExAC_nontcga_ALL=0.0153;ExAC_nontcga_AFR=0.0200;ExAC_nontcga_AMR=0.0137;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0032;ExAC_nontcga_NFE=0.0207;ExAC_nontcga_OTH=0.0203;ExAC_nontcga_SAS=0.0079;AF=0.0193;AF_popmax=0.0264;AF_male=0.0191;AF_female=0.0197;AF_raw=0.0193;AF_afr=0.0180;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0264;AF_fin=0.0032;AF_asj=0.0138;AF_oth=0.0157;non_topmed_AF_popmax=0.0280;non_neuro_AF_popmax=0.0260;non_cancer_AF_popmax=.;controls_AF_popmax=0.0268;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.737858;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129813697 rs146097890 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16441;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146097890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269125|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.062581;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129823857 rs145295628 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18256;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon58:c.C8286T:p.F2762F,LAMA2:NM_000426:exon59:c.C8298T:p.F2766F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145295628;CLNALLELEID=521708;CLNDN=Laminin_alpha_2-related_dystrophy;CLNDISDB=MedGen:CN117977;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=5.724e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269126|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.688857;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826335 rs113644365 T C 100 PASS AC=1;AF=0.00359425;AN=214;NS=2504;DP=18421;EAS_AF=0.001;AMR_AF=0.0101;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113644365;CLNALLELEID=98898;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.018;esp6500siv2_ea=0.0127;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0027;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0062;ExAC_nontcga_NFE=0.0135;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0024;AF=0.0080;AF_popmax=0.0121;AF_male=0.0077;AF_female=0.0083;AF_raw=0.0080;AF_afr=0.0033;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0110;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0121;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;Kaviar_AF=0.0090167;Kaviar_AC=1394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.454078;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826383 rs142451929 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=17251;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon60:c.T8574C:p.Y2858Y,LAMA2:NM_000426:exon61:c.T8586C:p.Y2862Y;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142451929;CLNALLELEID=252111;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0003;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0002;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.487326;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 129826488 rs2228599 A G 100 PASS AC=1;AF=0.0179712;AN=214;NS=2504;DP=18433;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0643;EUR_AF=0.001;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon60:c.A8679G:p.R2893R,LAMA2:NM_000426:exon61:c.A8691G:p.R2897R;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2228599;CLNALLELEID=134892;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0049;ExAC_nontcga_AFR=0.0530;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0002;AF=0.0145;AF_popmax=0.0512;AF_male=0.0144;AF_female=0.0146;AF_raw=0.0145;AF_afr=0.0512;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0513;non_neuro_AF_popmax=0.0532;non_cancer_AF_popmax=.;controls_AF_popmax=0.0537;Kaviar_AF=0.0047089;Kaviar_AC=728;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1269127|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.636526;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +6 129835530 rs189360899 G C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19671;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon63:c.G8989C:p.V2997L,LAMA2:NM_000426:exon64:c.G9001C:p.V3001L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189360899;CLNALLELEID=421571;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.014;SIFT_converted_rankscore=0.531;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_rankscore=0.559;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.821;Polyphen2_HVAR_rankscore=0.573;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.461;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_score_rankscore=0.663;MutationAssessor_pred=M;FATHMM_score=-1.05;FATHMM_converted_rankscore=0.767;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.736;VEST3_rankscore=0.733;MetaSVM_score=-0.060;MetaSVM_rankscore=0.810;MetaSVM_pred=T;MetaLR_score=0.468;MetaLR_rankscore=0.795;MetaLR_pred=T;M-CAP_score=0.050;M-CAP_rankscore=0.641;M-CAP_pred=D;REVEL_score=0.633;REVEL_rankscore=0.861;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.224;CADD_raw_rankscore=0.447;CADD_phred=22.7;DANN_score=0.994;DANN_rankscore=0.628;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.889;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.413;Eigen-PC-raw=0.381;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.72;GERP++_RS_rankscore=0.591;phyloP100way_vertebrate=7.826;phyloP100way_vertebrate_rankscore=0.847;phyloP20way_mammalian=0.135;phyloP20way_mammalian_rankscore=0.219;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=14.492;SiPhy_29way_logOdds_rankscore=0.671;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=7.181e-05;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.675911;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129835690 rs151049890 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18996;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon63:c.C9149A:p.A3050E,LAMA2:NM_000426:exon64:c.C9161A:p.A3054E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151049890;CLNALLELEID=563386;CLNDN=Laminin_alpha_2-related_dystrophy;CLNDISDB=MedGen:CN117977;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.367;SIFT_converted_rankscore=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.957;Polyphen2_HVAR_rankscore=0.682;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_score_rankscore=0.440;MutationAssessor_pred=L;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=0.2;PROVEAN_converted_rankscore=0.049;PROVEAN_pred=N;VEST3_score=0.845;VEST3_rankscore=0.832;MetaSVM_score=-0.911;MetaSVM_rankscore=0.467;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_rankscore=0.473;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.407;M-CAP_pred=T;REVEL_score=0.216;REVEL_rankscore=0.514;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.437;CADD_raw_rankscore=0.354;CADD_phred=19.06;DANN_score=0.960;DANN_rankscore=0.279;fathmm-MKL_coding_score=0.675;fathmm-MKL_coding_rankscore=0.332;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.295;Eigen-PC-raw=0.208;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.363;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.96;GERP++_RS_rankscore=0.650;phyloP100way_vertebrate=2.451;phyloP100way_vertebrate_rankscore=0.444;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.976;phastCons100way_vertebrate_rankscore=0.346;phastCons20way_mammalian=0.951;phastCons20way_mammalian_rankscore=0.427;SiPhy_29way_logOdds=14.902;SiPhy_29way_logOdds_rankscore=0.702;Interpro_domain=Concanavalin_A-like_lectin/glucanase_domain|Laminin_G_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.098e-05;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=0;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.494444;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129837320 rs55776770 C A 100 PASS AC=7;AF=0.0091853;AN=214;NS=2504;DP=18377;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0358;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55776770;CLNALLELEID=252115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0415;ExAC_nontcga_ALL=0.0223;ExAC_nontcga_AFR=0.0063;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0260;ExAC_nontcga_NFE=0.0351;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0039;AF=0.0228;AF_popmax=0.0333;AF_male=0.0230;AF_female=0.0226;AF_raw=0.0228;AF_afr=0.0060;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0333;AF_fin=0.0247;AF_asj=0.0448;AF_oth=0.0341;non_topmed_AF_popmax=0.0310;non_neuro_AF_popmax=0.0333;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0241135;Kaviar_AC=3728;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.508025;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 129837549 rs1049473 A C 100 PASS AC=1;AF=0.0509185;AN=214;NS=2504;DP=17629;EAS_AF=0.1577;AMR_AF=0.0317;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0644;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=LAMA2;GeneDetail.refGene=NM_000426:c.*57A>C\x3bNM_001079823:c.*57A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0509185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1049473;CLNALLELEID=298982;CLNDN=Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN239326;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0189;AF_popmax=0.1735;AF_male=0.0190;AF_female=0.0186;AF_raw=0.0189;AF_afr=0.0014;AF_sas=.;AF_amr=0.0342;AF_eas=0.1735;AF_nfe=0.0048;AF_fin=0.0509;AF_asj=0.0034;AF_oth=0.0258;non_topmed_AF_popmax=0.1752;non_neuro_AF_popmax=0.1735;non_cancer_AF_popmax=.;controls_AF_popmax=0.1751;Kaviar_AF=0.0034346;Kaviar_AC=531;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.609228;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133596051 rs566465018 A G 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=14534;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566465018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.960786;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133703698 rs10484668 T C 100 PASS AC=3;AF=0.0922524;AN=214;NS=2504;DP=16702;EAS_AF=0.005;AMR_AF=0.0187;AFR_AF=0.3222;EUR_AF=0.003;SAS_AF=0.0153;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0922524;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10484668;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0719;AF_popmax=0.2502;AF_male=0.0764;AF_female=0.0662;AF_raw=0.0722;AF_afr=0.2502;AF_sas=.;AF_amr=0.0271;AF_eas=0.0077;AF_nfe=0.0015;AF_fin=0;AF_asj=0;AF_oth=0.0212;non_topmed_AF_popmax=0.2519;non_neuro_AF_popmax=0.2522;non_cancer_AF_popmax=.;controls_AF_popmax=0.2631;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.594508;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133777690 rs201806127 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=17569;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201806127;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.521e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.482e-05;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.482e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805937|Enhancer;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004490|hsa-miR-19a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.875193;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133777842 rs556666194 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16699;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs556666194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000805937|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.147019;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133782375 rs3756873 T A 100 PASS AC=10;AF=0.201278;AN=214;NS=2504;DP=16549;EAS_AF=0.2986;AMR_AF=0.1412;AFR_AF=0.351;EUR_AF=0.0557;SAS_AF=0.091;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.201278;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3756873;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0669;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1368;AF_popmax=0.2965;AF_male=0.1458;AF_female=0.1255;AF_raw=0.1369;AF_afr=0.2965;AF_sas=.;AF_amr=0.1449;AF_eas=0.2935;AF_nfe=0.0598;AF_fin=0.0328;AF_asj=0.0345;AF_oth=0.0800;non_topmed_AF_popmax=0.2967;non_neuro_AF_popmax=0.3034;non_cancer_AF_popmax=.;controls_AF_popmax=0.3101;Kaviar_AF=0.0211705;Kaviar_AC=3273;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.534516;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 +6 133789728 rs9493627 G A 100 PASS AC=73;AF=0.409545;AN=214;NS=2504;DP=20421;EAS_AF=0.3442;AMR_AF=0.3429;AFR_AF=0.5688;EUR_AF=0.3111;SAS_AF=0.41;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9493627;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.254;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.548;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.599;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.391;VEST3_rankscore=0.625;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.411;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.626;Eigen-PC-raw=0.687;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.516;phyloP100way_vertebrate_rankscore=0.970;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.744;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000223542.1|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Ovary|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3128;ExAC_nontcga_ALL=0.3418;ExAC_nontcga_AFR=0.5342;ExAC_nontcga_AMR=0.2864;ExAC_nontcga_EAS=0.3553;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.3193;ExAC_nontcga_OTH=0.3617;ExAC_nontcga_SAS=0.3827;AF=0.3714;AF_popmax=0.5462;AF_male=0.3752;AF_female=0.3667;AF_raw=0.3712;AF_afr=0.5462;AF_sas=.;AF_amr=0.3131;AF_eas=0.3482;AF_nfe=0.3118;AF_fin=0.2464;AF_asj=0.3138;AF_oth=0.3112;non_topmed_AF_popmax=0.5472;non_neuro_AF_popmax=0.5498;non_cancer_AF_popmax=.;controls_AF_popmax=0.5436;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952146;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;1000g2015aug_all=0.409545;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9493627;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_converted_rankscore=0.254;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_rankscore=0.548;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_rankscore=0.599;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_converted_rankscore=0.830;FATHMM_pred=D;PROVEAN_score=-1.86;PROVEAN_converted_rankscore=0.439;PROVEAN_pred=N;VEST3_score=0.391;VEST3_rankscore=0.625;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.424;REVEL_rankscore=0.735;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.411;CADD_raw_rankscore=0.733;CADD_phred=26.0;DANN_score=0.999;DANN_rankscore=0.958;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.626;Eigen-PC-raw=0.687;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=9.516;phyloP100way_vertebrate_rankscore=0.970;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.744;SiPhy_29way_logOdds_rankscore=0.962;Interpro_domain=.;GTEx_V6p_gene=ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2|ENSG00000223542.1|ENSG00000227954.2|ENSG00000227954.2|ENSG00000227954.2;GTEx_V6p_tissue=Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Ovary|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3128;ExAC_nontcga_ALL=0.3418;ExAC_nontcga_AFR=0.5342;ExAC_nontcga_AMR=0.2864;ExAC_nontcga_EAS=0.3553;ExAC_nontcga_FIN=0.2352;ExAC_nontcga_NFE=0.3193;ExAC_nontcga_OTH=0.3617;ExAC_nontcga_SAS=0.3827;AF=0.3714;AF_popmax=0.5462;AF_male=0.3752;AF_female=0.3667;AF_raw=0.3712;AF_afr=0.5462;AF_sas=.;AF_amr=0.3131;AF_eas=0.3482;AF_nfe=0.3118;AF_fin=0.2464;AF_asj=0.3138;AF_oth=0.3112;non_topmed_AF_popmax=0.5472;non_neuro_AF_popmax=0.5498;non_cancer_AF_popmax=.;controls_AF_popmax=0.5436;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.952146;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|1 0|0 1|1 1|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|1 0|1 0|1 1|0 0|0 0|0 1|1 0|1 1|1 0|1 0|0 1|0 0|1 0|1 0|0 0|0 1|1 0|1 1|1 1|1 0|1 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|1 1|0 0|0 1|0 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|0 1|0 +6 133789737 rs202030718 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20507;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C676A:p.Q226K,EYA4:NM_172103:exon10:c.C769A:p.Q257K,EYA4:NM_001301013:exon11:c.C838A:p.Q280K,EYA4:NM_004100:exon11:c.C838A:p.Q280K,EYA4:NM_172105:exon11:c.C838A:p.Q280K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202030718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.660;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.135;MutationAssessor_score_rankscore=0.884;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.822;MetaSVM_score=0.426;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.722;MetaLR_rankscore=0.905;MetaLR_pred=D;M-CAP_score=0.109;M-CAP_rankscore=0.786;M-CAP_pred=D;REVEL_score=0.743;REVEL_rankscore=0.912;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.764;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.836;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.786;Eigen-PC-raw=0.800;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=7.503;phyloP100way_vertebrate_rankscore=0.803;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.27;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.719e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.213e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942966;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C676A:p.Q226K,EYA4:NM_172103:exon10:c.C769A:p.Q257K,EYA4:NM_001301013:exon11:c.C838A:p.Q280K,EYA4:NM_004100:exon11:c.C838A:p.Q280K,EYA4:NM_172105:exon11:c.C838A:p.Q280K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202030718;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.660;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.135;MutationAssessor_score_rankscore=0.884;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.543;PROVEAN_pred=N;VEST3_score=0.827;VEST3_rankscore=0.822;MetaSVM_score=0.426;MetaSVM_rankscore=0.895;MetaSVM_pred=D;MetaLR_score=0.722;MetaLR_rankscore=0.905;MetaLR_pred=D;M-CAP_score=0.109;M-CAP_rankscore=0.786;M-CAP_pred=D;REVEL_score=0.743;REVEL_rankscore=0.912;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.996;DANN_rankscore=0.764;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.836;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.786;Eigen-PC-raw=0.800;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.73;GERP++_RS_rankscore=0.897;phyloP100way_vertebrate=7.503;phyloP100way_vertebrate_rankscore=0.803;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=20.27;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=4.719e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.213e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1704507|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.942966;ALLELE_END;VINYL_score=12 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133802542 rs41286202 G A 100 PASS AC=23;AF=0.0283546;AN=214;NS=2504;DP=17330;EAS_AF=0;AMR_AF=0.0476;AFR_AF=0.0076;EUR_AF=0.0825;SAS_AF=0.0164;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0283546;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41286202;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0516;AF_popmax=0.0793;AF_male=0.0527;AF_female=0.0503;AF_raw=0.0518;AF_afr=0.0149;AF_sas=.;AF_amr=0.0554;AF_eas=0;AF_nfe=0.0793;AF_fin=0.0438;AF_asj=0.0241;AF_oth=0.0579;non_topmed_AF_popmax=0.0771;non_neuro_AF_popmax=0.0791;non_cancer_AF_popmax=.;controls_AF_popmax=0.0772;Kaviar_AF=0.0134022;Kaviar_AC=2072;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.702670;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 +6 133802711 rs569333400 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14973;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon10:c.T919C:p.S307P,EYA4:NM_172103:exon11:c.T1012C:p.S338P,EYA4:NM_001301013:exon12:c.T1099C:p.S367P,EYA4:NM_004100:exon12:c.T1081C:p.S361P,EYA4:NM_172105:exon12:c.T1081C:p.S361P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs569333400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.073;Polyphen2_HVAR_rankscore=0.655;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.825;MutationAssessor_score_rankscore=0.480;MutationAssessor_pred=L;FATHMM_score=-1.63;FATHMM_converted_rankscore=0.825;FATHMM_pred=D;PROVEAN_score=-3.26;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST3_score=0.745;VEST3_rankscore=0.793;MetaSVM_score=0.488;MetaSVM_rankscore=0.904;MetaSVM_pred=D;MetaLR_score=0.669;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.210;M-CAP_rankscore=0.873;M-CAP_pred=D;REVEL_score=0.779;REVEL_rankscore=0.927;MutPred_score=0.357;MutPred_rankscore=0.360;CADD_raw=4.879;CADD_raw_rankscore=0.655;CADD_phred=24.9;DANN_score=0.998;DANN_rankscore=0.880;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.607;Eigen-PC-raw=0.647;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=7.780;phyloP100way_vertebrate_rankscore=0.842;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=15.901;SiPhy_29way_logOdds_rankscore=0.791;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.950244;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133827354 rs2277083 A G 100 PASS AC=136;AF=0.722244;AN=214;NS=2504;DP=16814;EAS_AF=0.8194;AMR_AF=0.6945;AFR_AF=0.7141;EUR_AF=0.5706;SAS_AF=0.8088;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.722244;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2277083;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5607;ExAC_nontcga_ALL=0.6376;ExAC_nontcga_AFR=0.7185;ExAC_nontcga_AMR=0.6875;ExAC_nontcga_EAS=0.7940;ExAC_nontcga_FIN=0.5126;ExAC_nontcga_NFE=0.5657;ExAC_nontcga_OTH=0.6243;ExAC_nontcga_SAS=0.7694;AF=0.6162;AF_popmax=0.7906;AF_male=0.6162;AF_female=0.6162;AF_raw=0.6160;AF_afr=0.7194;AF_sas=.;AF_amr=0.6608;AF_eas=0.7906;AF_nfe=0.5630;AF_fin=0.5184;AF_asj=0.5828;AF_oth=0.5810;non_topmed_AF_popmax=0.7919;non_neuro_AF_popmax=0.7906;non_cancer_AF_popmax=.;controls_AF_popmax=0.7873;Kaviar_AF=0.610561;Kaviar_AC=94394;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.146255;ALLELE_END;VINYL_score=-1 GT 1|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|0 1|1 1|0 1|1 1|0 1|0 1|0 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|0 1|1 0|1 0|0 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|0 1|1 0|1 1|0 0|1 1|0 1|0 1|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 +6 133833915 rs200309400 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21759;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon13:c.A1176G:p.L392L,EYA4:NM_172103:exon14:c.A1269G:p.L423L,EYA4:NM_001301013:exon15:c.A1356G:p.L452L,EYA4:NM_004100:exon15:c.A1338G:p.L446L,EYA4:NM_172105:exon15:c.A1338G:p.L446L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200309400;CLNALLELEID=305889;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0009;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.959727;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133836430 rs56378005 G A 100 PASS AC=6;AF=0.00539137;AN=214;NS=2504;DP=18764;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56378005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0164;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0024;ExAC_nontcga_AMR=0.0080;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0098;ExAC_nontcga_NFE=0.0161;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0094;AF=0.0095;AF_popmax=0.0146;AF_male=0.0088;AF_female=0.0103;AF_raw=0.0095;AF_afr=0.0024;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0146;AF_fin=0.0072;AF_asj=0.0172;AF_oth=0.0138;non_topmed_AF_popmax=0.0134;non_neuro_AF_popmax=0.0148;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0122961;Kaviar_AC=1901;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.295710;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +6 133844137 rs41286206 C A 100 PASS AC=28;AF=0.154752;AN=214;NS=2504;DP=16896;EAS_AF=0.131;AMR_AF=0.1153;AFR_AF=0.211;EUR_AF=0.1352;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.154752;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41286206;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1516;AF_popmax=0.1950;AF_male=0.1505;AF_female=0.1530;AF_raw=0.1520;AF_afr=0.1950;AF_sas=.;AF_amr=0.0804;AF_eas=0.1346;AF_nfe=0.1414;AF_fin=0.1094;AF_asj=0.2172;AF_oth=0.1464;non_topmed_AF_popmax=0.1941;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1755;Kaviar_AF=0.0290553;Kaviar_AC=4492;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.149425::-0.666949;Heart_Left_Ventricle=Heart_Left_Ventricle::0.157993::-0.599321;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.454046;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 +6 133844339 rs59368621 G C 100 PASS AC=1;AF=0.0373403;AN=214;NS=2504;DP=18354;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.1346;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0373403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs59368621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0121;ExAC_nontcga_AFR=0.1317;ExAC_nontcga_AMR=0.0065;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0002;AF=0.0381;AF_popmax=0.1346;AF_male=0.0395;AF_female=0.0364;AF_raw=0.0381;AF_afr=0.1346;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.1344;non_neuro_AF_popmax=0.1327;non_cancer_AF_popmax=.;controls_AF_popmax=0.1359;Kaviar_AF=0.0114099;Kaviar_AC=1764;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.220735;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 133849789 rs3822939 A G 100 PASS AC=129;AF=0.770367;AN=214;NS=2504;DP=16839;EAS_AF=0.8194;AMR_AF=0.6916;AFR_AF=0.9281;EUR_AF=0.5477;SAS_AF=0.7914;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.770367;GWAS=rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163;ORegAnno_REGULATORY_P=rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163;avsnp150=rs3822939;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6557;AF_popmax=0.8948;AF_male=0.6566;AF_female=0.6547;AF_raw=0.6554;AF_afr=0.8948;AF_sas=.;AF_amr=0.6651;AF_eas=0.7890;AF_nfe=0.5461;AF_fin=0.5144;AF_asj=0.5517;AF_oth=0.5759;non_topmed_AF_popmax=0.8951;non_neuro_AF_popmax=0.8957;non_cancer_AF_popmax=.;controls_AF_popmax=0.8938;Kaviar_AF=0.117159;Kaviar_AC=18113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.737781;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 1|1 0|1 0|1 1|1 1|1 1|0 0|0 1|0 1|0 1|1 1|0 1|0 1|0 1|0 1|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|0 0|1 0|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 0|1 1|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|0 1|1 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 1|1 0|0 1|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|0 1|0 0|1 1|1 +6 133849868 rs142721902 C T 100 PASS AC=4;AF=0.0081869;AN=214;NS=2504;DP=17999;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0225;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon18:c.C1683T:p.N561N,EYA4:NM_172103:exon19:c.C1776T:p.N592N,EYA4:NM_001301013:exon20:c.C1863T:p.N621N,EYA4:NM_004100:exon20:c.C1845T:p.N615N,EYA4:NM_172105:exon20:c.C1845T:p.N615N;1000g2015aug_all=0.0081869;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142721902;CLNALLELEID=44695;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0126;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0146;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0269;AF=0.0075;AF_popmax=0.0108;AF_male=0.0077;AF_female=0.0073;AF_raw=0.0075;AF_afr=0.0028;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0035;AF_asj=0.0517;AF_oth=0.0092;non_topmed_AF_popmax=0.0106;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0116751;Kaviar_AC=1805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.960392;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 133849966 rs3734279 C T 100 PASS AC=95;AF=0.471046;AN=214;NS=2504;DP=19592;EAS_AF=0.6855;AMR_AF=0.5274;AFR_AF=0.2027;EUR_AF=0.4016;SAS_AF=0.6442;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.471046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734279;CLNALLELEID=299116;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3865;ExAC_nontcga_ALL=0.4399;ExAC_nontcga_AFR=0.2292;ExAC_nontcga_AMR=0.5776;ExAC_nontcga_EAS=0.6469;ExAC_nontcga_FIN=0.3959;ExAC_nontcga_NFE=0.3749;ExAC_nontcga_OTH=0.4205;ExAC_nontcga_SAS=0.5966;AF=0.3651;AF_popmax=0.6538;AF_male=0.3631;AF_female=0.3678;AF_raw=0.3651;AF_afr=0.2273;AF_sas=.;AF_amr=0.5389;AF_eas=0.6538;AF_nfe=0.3949;AF_fin=0.4025;AF_asj=0.3276;AF_oth=0.3884;non_topmed_AF_popmax=0.6550;non_neuro_AF_popmax=0.6538;non_cancer_AF_popmax=.;controls_AF_popmax=0.6466;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.895395;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 1|1 0|1 0|1 0|1 1|0 1|0 0|0 1|0 0|0 1|1 1|0 1|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 0|0 1|0 1|1 0|0 1|1 1|1 0|1 0|0 0|1 0|0 1|0 0|0 0|1 1|0 1|1 1|0 0|1 0|0 0|0 0|0 1|1 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|1 1|0 0|0 1|0 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|1 1|0 +6 152443744 rs2295190 G T 100 PASS AC=25;AF=0.076877;AN=214;NS=2504;DP=19383;EAS_AF=0.0675;AMR_AF=0.0533;AFR_AF=0.0204;EUR_AF=0.1491;SAS_AF=0.1053;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon18:c.C2755A:p.L919M,SYNE1:NM_033071:exon146:c.C26077A:p.L8693M,SYNE1:NM_182961:exon146:c.C26221A:p.L8741M;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295190;CLNALLELEID=135882;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_rankscore=0.697;Polyphen2_HVAR_pred=D;LRT_score=0.072;LRT_converted_rankscore=0.214;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=1.94;MutationAssessor_score_rankscore=0.524;MutationAssessor_pred=M;FATHMM_score=1.75;FATHMM_converted_rankscore=0.262;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_converted_rankscore=0.402;PROVEAN_pred=N;VEST3_score=0.342;VEST3_rankscore=0.403;MetaSVM_score=-0.983;MetaSVM_rankscore=0.343;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_rankscore=0.361;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.671;CADD_raw_rankscore=0.626;CADD_phred=24.5;DANN_score=0.995;DANN_rankscore=0.679;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_rankscore=0.513;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.358;Eigen-PC-raw=0.230;GenoCanyon_score=0.079;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.627;GERP++_RS_rankscore=0.168;phyloP100way_vertebrate=1.640;phyloP100way_vertebrate_rankscore=0.366;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=8.702;SiPhy_29way_logOdds_rankscore=0.333;Interpro_domain=KASH_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1398;ExAC_nontcga_ALL=0.1170;ExAC_nontcga_AFR=0.0283;ExAC_nontcga_AMR=0.0423;ExAC_nontcga_EAS=0.0612;ExAC_nontcga_FIN=0.2017;ExAC_nontcga_NFE=0.1532;ExAC_nontcga_OTH=0.1268;ExAC_nontcga_SAS=0.0892;AF=0.1200;AF_popmax=0.1616;AF_male=0.1146;AF_female=0.1267;AF_raw=0.1202;AF_afr=0.0319;AF_sas=.;AF_amr=0.0472;AF_eas=0.0553;AF_nfe=0.1616;AF_fin=0.1865;AF_asj=0.1103;AF_oth=0.1746;non_topmed_AF_popmax=0.1683;non_neuro_AF_popmax=0.1611;non_cancer_AF_popmax=.;controls_AF_popmax=0.1887;Kaviar_AF=0.117728;Kaviar_AC=18201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.824604;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 1|0 1|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 152443761 rs2295192 C T 100 PASS AC=6;AF=0.0648962;AN=214;NS=2504;DP=19279;EAS_AF=0.0744;AMR_AF=0.062;AFR_AF=0.0643;EUR_AF=0.0447;SAS_AF=0.0787;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon18:c.G2738A:p.R913Q,SYNE1:NM_033071:exon146:c.G26060A:p.R8687Q,SYNE1:NM_182961:exon146:c.G26204A:p.R8735Q;1000g2015aug_all=0.0648962;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2295192;CLNALLELEID=135880;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.222;SIFT_converted_rankscore=0.586;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_converted_rankscore=0.192;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.145;MutationAssessor_score_rankscore=0.044;MutationAssessor_pred=N;FATHMM_score=0.61;FATHMM_converted_rankscore=0.535;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.600;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.159;MetaSVM_score=-0.998;MetaSVM_rankscore=0.304;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_rankscore=0.126;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.625;CADD_raw_rankscore=0.257;CADD_phred=13.99;DANN_score=0.902;DANN_rankscore=0.189;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.952;Eigen-PC-raw=-0.908;GenoCanyon_score=0.106;GenoCanyon_score_rankscore=0.165;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=1.27;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=-0.020;phyloP100way_vertebrate_rankscore=0.124;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=10.065;SiPhy_29way_logOdds_rankscore=0.413;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0335;ExAC_nontcga_ALL=0.0524;ExAC_nontcga_AFR=0.0483;ExAC_nontcga_AMR=0.0869;ExAC_nontcga_EAS=0.0566;ExAC_nontcga_FIN=0.0700;ExAC_nontcga_NFE=0.0392;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0652;AF=0.0494;AF_popmax=0.0719;AF_male=0.0492;AF_female=0.0496;AF_raw=0.0494;AF_afr=0.0481;AF_sas=.;AF_amr=0.0719;AF_eas=0.0540;AF_nfe=0.0444;AF_fin=0.0656;AF_asj=0.0379;AF_oth=0.0570;non_topmed_AF_popmax=0.0741;non_neuro_AF_popmax=0.0686;non_cancer_AF_popmax=.;controls_AF_popmax=0.0732;Kaviar_AF=0.0480007;Kaviar_AC=7421;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.664822;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152453291 rs35591210 G A 100 PASS AC=15;AF=0.0257588;AN=214;NS=2504;DP=19209;EAS_AF=0;AMR_AF=0.0389;AFR_AF=0.0045;EUR_AF=0.0825;SAS_AF=0.0133;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon16:c.C2594T:p.T865I,SYNE1:NM_001347701:exon17:c.C2666T:p.T889I,SYNE1:NM_033071:exon144:c.C25916T:p.T8639I,SYNE1:NM_182961:exon144:c.C26060T:p.T8687I;1000g2015aug_all=0.0257588;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35591210;CLNALLELEID=135879;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.061;SIFT_converted_rankscore=0.512;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.147;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.176;Polyphen2_HVAR_pred=B;LRT_score=0.388;LRT_converted_rankscore=0.133;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.9;MutationAssessor_score_rankscore=0.233;MutationAssessor_pred=L;FATHMM_score=0.62;FATHMM_converted_rankscore=0.533;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_converted_rankscore=0.500;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.146;MetaSVM_score=-1.035;MetaSVM_rankscore=0.188;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_rankscore=0.228;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.073;REVEL_rankscore=0.218;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.797;CADD_raw_rankscore=0.277;CADD_phred=14.97;DANN_score=0.988;DANN_rankscore=0.452;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.453;Eigen-PC-raw=-0.418;GenoCanyon_score=0.264;GenoCanyon_score_rankscore=0.188;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.62;GERP++_RS_rankscore=0.302;phyloP100way_vertebrate=2.819;phyloP100way_vertebrate_rankscore=0.475;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.108;phastCons100way_vertebrate_rankscore=0.227;phastCons20way_mammalian=0.965;phastCons20way_mammalian_rankscore=0.450;SiPhy_29way_logOdds=2.870;SiPhy_29way_logOdds_rankscore=0.052;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0745;ExAC_nontcga_ALL=0.0492;ExAC_nontcga_AFR=0.0117;ExAC_nontcga_AMR=0.0315;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0640;ExAC_nontcga_NFE=0.0732;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0204;AF=0.0510;AF_popmax=0.0775;AF_male=0.0510;AF_female=0.0509;AF_raw=0.0511;AF_afr=0.0131;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0775;AF_fin=0.0578;AF_asj=0.0552;AF_oth=0.0470;non_topmed_AF_popmax=0.0753;non_neuro_AF_popmax=0.0773;non_cancer_AF_popmax=.;controls_AF_popmax=0.0754;Kaviar_AF=0.0534857;Kaviar_AC=8269;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.069594;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 +6 152456437 rs560682510 A C 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=19559;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560682510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002305;Kaviar_AC=6;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152456438 rs117389517 A C 100 PASS AC=2;AF=0.00599042;AN=214;NS=2504;DP=19650;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0015;EUR_AF=0.0149;SAS_AF=0.0041;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117389517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0093;AF_popmax=0.0136;AF_male=0.0089;AF_female=0.0098;AF_raw=0.0093;AF_afr=0.0026;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0136;AF_fin=0.0101;AF_asj=0.0069;AF_oth=0.0110;non_topmed_AF_popmax=0.0130;non_neuro_AF_popmax=0.0141;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0026326;Kaviar_AC=407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152457897 rs144459490 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20027;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon13:c.C2049T:p.C683C,SYNE1:NM_001347701:exon14:c.C2121T:p.C707C,SYNE1:NM_033071:exon141:c.C25371T:p.C8457C,SYNE1:NM_182961:exon141:c.C25515T:p.C8505C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144459490;CLNALLELEID=272899;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.383771;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152461061 rs3818110 G A 100 PASS AC=99;AF=0.444489;AN=214;NS=2504;DP=15992;EAS_AF=0.2966;AMR_AF=0.5389;AFR_AF=0.5492;EUR_AF=0.4046;SAS_AF=0.4294;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.444489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3818110;CLNALLELEID=252157;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3941;ExAC_nontcga_ALL=0.4012;ExAC_nontcga_AFR=0.5257;ExAC_nontcga_AMR=0.5463;ExAC_nontcga_EAS=0.2911;ExAC_nontcga_FIN=0.2470;ExAC_nontcga_NFE=0.3698;ExAC_nontcga_OTH=0.3916;ExAC_nontcga_SAS=0.4522;AF=0.3980;AF_popmax=0.5236;AF_male=0.4025;AF_female=0.3923;AF_raw=0.4005;AF_afr=0.5231;AF_sas=.;AF_amr=0.5236;AF_eas=0.2854;AF_nfe=0.3635;AF_fin=0.2594;AF_asj=0.4965;AF_oth=0.3703;non_topmed_AF_popmax=0.5322;non_neuro_AF_popmax=0.5238;non_cancer_AF_popmax=.;controls_AF_popmax=0.5300;Kaviar_AF=0.392032;Kaviar_AC=60609;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.006134;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 1|1 0|0 1|0 1|1 0|0 1|1 1|1 1|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 1|1 1|1 1|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|0 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 0|0 1|1 0|0 0|0 0|1 1|1 0|0 0|1 1|0 0|0 0|0 1|0 0|1 1|1 0|1 0|1 1|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152461162 rs119103248 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16242;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon12:c.G1915A:p.E639K,SYNE1:NM_001347701:exon13:c.G1987A:p.E663K,SYNE1:NM_033071:exon140:c.G25237A:p.E8413K,SYNE1:NM_182961:exon140:c.G25381A:p.E8461K;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs119103248;CLNALLELEID=17373;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.157;SIFT_converted_rankscore=0.250;SIFT_pred=T;Polyphen2_HDIV_score=0.615;Polyphen2_HDIV_rankscore=0.379;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.438;Polyphen2_HVAR_rankscore=0.479;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.363;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.735;MutationAssessor_score_rankscore=0.802;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_converted_rankscore=0.521;PROVEAN_pred=N;VEST3_score=0.623;VEST3_rankscore=0.835;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.181;MetaLR_rankscore=0.528;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.434;M-CAP_pred=T;REVEL_score=0.187;REVEL_rankscore=0.468;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.590;CADD_raw_rankscore=0.615;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.957;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_rankscore=0.659;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.372;Eigen-PC-raw=0.460;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=3.406;phyloP100way_vertebrate_rankscore=0.521;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.804;phastCons20way_mammalian_rankscore=0.337;SiPhy_29way_logOdds=20.321;SiPhy_29way_logOdds_rankscore=0.987;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0005;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.483013;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152462480 rs139671151 C A 100 PASS AC=6;AF=0.00559105;AN=214;NS=2504;DP=17937;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0129;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00559105;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139671151;CLNALLELEID=252158;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0097;ExAC_nontcga_ALL=0.0074;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0081;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0095;AF=0.0047;AF_popmax=0.0189;AF_male=0.0052;AF_female=0.0040;AF_raw=0.0047;AF_afr=0.0020;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0020;AF_asj=0.0241;AF_oth=0.0083;non_topmed_AF_popmax=0.0186;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0074061;Kaviar_AC=1145;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.234411;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152462524 rs73780335 C T 100 PASS AC=1;AF=0.0303514;AN=214;NS=2504;DP=18072;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.1104;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0303514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73780335;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0265;AF_popmax=0.0943;AF_male=0.0280;AF_female=0.0246;AF_raw=0.0266;AF_afr=0.0943;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0942;non_neuro_AF_popmax=0.0846;non_cancer_AF_popmax=.;controls_AF_popmax=0.0827;Kaviar_AF=0.0083372;Kaviar_AC=217;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152464839 rs2256135 A G 100 PASS AC=123;AF=0.689696;AN=214;NS=2504;DP=19631;EAS_AF=0.6865;AMR_AF=0.7118;AFR_AF=0.7844;EUR_AF=0.5447;SAS_AF=0.6984;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon10:c.T1572C:p.R524R,SYNE1:NM_001347701:exon11:c.T1644C:p.R548R,SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R;1000g2015aug_all=0.689696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2256135;CLNALLELEID=135876;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5564;ExAC_nontcga_ALL=0.6150;ExAC_nontcga_AFR=0.7589;ExAC_nontcga_AMR=0.7299;ExAC_nontcga_EAS=0.7036;ExAC_nontcga_FIN=0.4930;ExAC_nontcga_NFE=0.5468;ExAC_nontcga_OTH=0.5980;ExAC_nontcga_SAS=0.6903;AF=0.6141;AF_popmax=0.7558;AF_male=0.6160;AF_female=0.6117;AF_raw=0.6140;AF_afr=0.7558;AF_sas=.;AF_amr=0.7151;AF_eas=0.6958;AF_nfe=0.5460;AF_fin=0.4986;AF_asj=0.6;AF_oth=0.6234;non_topmed_AF_popmax=0.7563;non_neuro_AF_popmax=0.7454;non_cancer_AF_popmax=.;controls_AF_popmax=0.7459;Kaviar_AF=0.602735;Kaviar_AC=93184;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051753;ALLELE_END;VINYL_score=1 GT 1|1 1|1 0|0 1|0 0|0 1|0 1|1 1|1 1|0 1|1 0|0 0|1 1|1 1|0 1|1 0|1 1|0 0|0 0|1 1|0 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|1 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|1 1|1 0|1 0|1 1|1 0|0 1|0 1|1 0|1 1|1 0|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|1 0|1 0|1 1|1 0|1 1|0 0|0 1|1 0|1 0|0 0|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 0|1 0|1 0|0 1|0 1|0 1|1 0|1 1|0 0|0 +6 152466578 rs74709220 A C 100 PASS AC=2;AF=0.0567093;AN=214;NS=2504;DP=17164;EAS_AF=0.128;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.1544;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0567093;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74709220;CLNALLELEID=252159;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0051;ExAC_nontcga_ALL=0.0347;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0026;ExAC_nontcga_EAS=0.1222;ExAC_nontcga_FIN=0.0065;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0418;ExAC_nontcga_SAS=0.1381;AF=0.0116;AF_popmax=0.1093;AF_male=0.0122;AF_female=0.0108;AF_raw=0.0117;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.1093;AF_nfe=0.0087;AF_fin=0.0060;AF_asj=0.0276;AF_oth=0.0230;non_topmed_AF_popmax=0.1100;non_neuro_AF_popmax=0.1093;non_cancer_AF_popmax=.;controls_AF_popmax=0.1149;Kaviar_AF=0.0285766;Kaviar_AC=4418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.368461;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152466582 rs2813487 A G 100 PASS AC=79;AF=0.381589;AN=214;NS=2504;DP=17258;EAS_AF=0.2073;AMR_AF=0.513;AFR_AF=0.4728;EUR_AF=0.33;SAS_AF=0.3978;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.381589;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2813487;CLNALLELEID=252160;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3359;ExAC_nontcga_ALL=0.3634;ExAC_nontcga_AFR=0.4553;ExAC_nontcga_AMR=0.5316;ExAC_nontcga_EAS=0.2993;ExAC_nontcga_FIN=0.2332;ExAC_nontcga_NFE=0.3207;ExAC_nontcga_OTH=0.3582;ExAC_nontcga_SAS=0.4221;AF=0.3513;AF_popmax=0.5190;AF_male=0.3550;AF_female=0.3467;AF_raw=0.3515;AF_afr=0.4509;AF_sas=.;AF_amr=0.5190;AF_eas=0.2976;AF_nfe=0.3173;AF_fin=0.2332;AF_asj=0.4241;AF_oth=0.3435;non_topmed_AF_popmax=0.5236;non_neuro_AF_popmax=0.5055;non_cancer_AF_popmax=.;controls_AF_popmax=0.4797;Kaviar_AF=0.0015459;Kaviar_AC=239;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.298421;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152466674 rs2747662 T C 100 PASS AC=79;AF=0.366214;AN=214;NS=2504;DP=17781;EAS_AF=0.2976;AMR_AF=0.5058;AFR_AF=0.3389;EUR_AF=0.331;SAS_AF=0.411;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon9:c.A1458G:p.E486E,SYNE1:NM_033071:exon137:c.A24780G:p.E8260E;1000g2015aug_all=0.366214;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2747662;CLNALLELEID=135875;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3301;ExAC_nontcga_ALL=0.3469;ExAC_nontcga_AFR=0.3415;ExAC_nontcga_AMR=0.5209;ExAC_nontcga_EAS=0.2945;ExAC_nontcga_FIN=0.2272;ExAC_nontcga_NFE=0.3142;ExAC_nontcga_OTH=0.3487;ExAC_nontcga_SAS=0.4124;AF=0.3162;AF_popmax=0.5071;AF_male=0.3183;AF_female=0.3137;AF_raw=0.3168;AF_afr=0.3365;AF_sas=.;AF_amr=0.5071;AF_eas=0.2922;AF_nfe=0.3136;AF_fin=0.2272;AF_asj=0.4138;AF_oth=0.3364;non_topmed_AF_popmax=0.5149;non_neuro_AF_popmax=0.4928;non_cancer_AF_popmax=.;controls_AF_popmax=0.4675;Kaviar_AF=0.342117;Kaviar_AC=52892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.036820;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152469188 rs2252755 C G 100 PASS AC=81;AF=0.399361;AN=214;NS=2504;DP=19254;EAS_AF=0.2986;AMR_AF=0.5115;AFR_AF=0.4576;EUR_AF=0.333;SAS_AF=0.4131;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1433C:p.G478A,SYNE1:NM_001347701:exon10:c.G1574C:p.G525A,SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A;1000g2015aug_all=0.399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252755;CLNALLELEID=135874;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.696;Polyphen2_HDIV_rankscore=0.398;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.338;Polyphen2_HVAR_rankscore=0.405;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.408;LRT_pred=D;MutationTaster_score=0.810;MutationTaster_converted_rankscore=0.311;MutationTaster_pred=P;MutationAssessor_score=0.58;MutationAssessor_score_rankscore=0.154;MutationAssessor_pred=N;FATHMM_score=0.85;FATHMM_converted_rankscore=0.471;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_converted_rankscore=0.334;PROVEAN_pred=N;VEST3_score=0.165;VEST3_rankscore=0.199;MetaSVM_score=-1.079;MetaSVM_rankscore=0.075;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.218;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.755;CADD_raw_rankscore=0.166;CADD_phred=9.179;DANN_score=0.226;DANN_rankscore=0.009;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.598;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.207;Eigen-PC-raw=-0.060;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=3.438;phyloP100way_vertebrate_rankscore=0.524;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.980;phastCons100way_vertebrate_rankscore=0.350;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.033;SiPhy_29way_logOdds_rankscore=0.929;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3373;ExAC_nontcga_ALL=0.3602;ExAC_nontcga_AFR=0.4444;ExAC_nontcga_AMR=0.5265;ExAC_nontcga_EAS=0.2964;ExAC_nontcga_FIN=0.2275;ExAC_nontcga_NFE=0.3194;ExAC_nontcga_OTH=0.3573;ExAC_nontcga_SAS=0.4196;AF=0.3500;AF_popmax=0.5177;AF_male=0.3540;AF_female=0.3450;AF_raw=0.3501;AF_afr=0.4441;AF_sas=.;AF_amr=0.5177;AF_eas=0.2985;AF_nfe=0.3186;AF_fin=0.2311;AF_asj=0.4310;AF_oth=0.3444;non_topmed_AF_popmax=0.5235;non_neuro_AF_popmax=0.5054;non_cancer_AF_popmax=.;controls_AF_popmax=0.4797;Kaviar_AF=0.355202;Kaviar_AC=54915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.285969;ALLELE_END;VINYL_score=2.5 GT 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 1|0 1|1 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|1 1|1 1|1 0|0 0|1 1|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152469204 rs141716975 G A 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18884;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.0051;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.C1417T:p.L473F,SYNE1:NM_001347701:exon10:c.C1558T:p.L520F,SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141716975;CLNALLELEID=191466;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_rankscore=0.514;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.391;Polyphen2_HVAR_rankscore=0.488;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=0.724;MutationTaster_converted_rankscore=0.336;MutationTaster_pred=D;MutationAssessor_score=2.79;MutationAssessor_score_rankscore=0.817;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_converted_rankscore=0.551;FATHMM_pred=T;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.589;PROVEAN_pred=D;VEST3_score=0.297;VEST3_rankscore=0.357;MetaSVM_score=-0.913;MetaSVM_rankscore=0.465;MetaSVM_pred=T;MetaLR_score=0.130;MetaLR_rankscore=0.440;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.542;M-CAP_pred=D;REVEL_score=0.174;REVEL_rankscore=0.445;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.924;CADD_raw_rankscore=0.412;CADD_phred=22.0;DANN_score=0.990;DANN_rankscore=0.496;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.173;Eigen-PC-raw=0.137;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.410;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.45;GERP++_RS_rankscore=0.384;phyloP100way_vertebrate=5.924;phyloP100way_vertebrate_rankscore=0.696;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.784;SiPhy_29way_logOdds_rankscore=0.396;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0056;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0044;ExAC_nontcga_NFE=0.0075;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0066;AF=0.0057;AF_popmax=0.0093;AF_male=0.0051;AF_female=0.0065;AF_raw=0.0057;AF_afr=0.0014;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0093;AF_fin=0.0035;AF_asj=0.0138;AF_oth=0.0064;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000414|hsa-let-7g-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.885134;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152469331 rs2252748 C T 100 PASS AC=66;AF=0.339457;AN=214;NS=2504;DP=18551;EAS_AF=0.2976;AMR_AF=0.4597;AFR_AF=0.3079;EUR_AF=0.2833;SAS_AF=0.3978;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1290A:p.P430P,SYNE1:NM_001347701:exon10:c.G1431A:p.P477P,SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P;1000g2015aug_all=0.339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2252748;CLNALLELEID=135873;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2944;ExAC_nontcga_ALL=0.3149;ExAC_nontcga_AFR=0.3081;ExAC_nontcga_AMR=0.4913;ExAC_nontcga_EAS=0.2930;ExAC_nontcga_FIN=0.1824;ExAC_nontcga_NFE=0.2729;ExAC_nontcga_OTH=0.3020;ExAC_nontcga_SAS=0.4015;AF=0.2847;AF_popmax=0.4633;AF_male=0.288;AF_female=0.2806;AF_raw=0.2847;AF_afr=0.3044;AF_sas=.;AF_amr=0.4633;AF_eas=0.2982;AF_nfe=0.2805;AF_fin=0.1941;AF_asj=0.3576;AF_oth=0.2998;non_topmed_AF_popmax=0.4702;non_neuro_AF_popmax=0.44;non_cancer_AF_popmax=.;controls_AF_popmax=0.4303;Kaviar_AF=0.309795;Kaviar_AC=47895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.461894;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 1|1 0|0 1|1 0|1 1|0 0|0 0|0 0|0 1|1 0|0 0|1 1|0 0|1 1|1 1|0 1|0 0|0 0|1 1|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 0|1 1|1 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|1 0|1 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152469354 rs527527845 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18341;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.G1267A:p.E423K,SYNE1:NM_001347701:exon10:c.G1408A:p.E470K,SYNE1:NM_033071:exon136:c.G24589A:p.E8197K,SYNE1:NM_182961:exon137:c.G24802A:p.E8268K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs527527845;CLNALLELEID=585928;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.485;Polyphen2_HVAR_rankscore=0.613;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.085;MutationAssessor_score_rankscore=0.876;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.595;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_converted_rankscore=0.714;PROVEAN_pred=D;VEST3_score=0.62;VEST3_rankscore=0.770;MetaSVM_score=-0.202;MetaSVM_rankscore=0.776;MetaSVM_pred=T;MetaLR_score=0.335;MetaLR_rankscore=0.702;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.716;M-CAP_pred=D;REVEL_score=0.289;REVEL_rankscore=0.612;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.962;CADD_raw_rankscore=0.935;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.978;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.804;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.529;Eigen-PC-raw=0.456;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.38;GERP++_RS_rankscore=0.519;phyloP100way_vertebrate=5.845;phyloP100way_vertebrate_rankscore=0.689;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.621;phastCons20way_mammalian_rankscore=0.293;SiPhy_29way_logOdds=15.752;SiPhy_29way_logOdds_rankscore=0.777;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.778e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.538e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=0;AF_female=7.184e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.029e-05;non_neuro_AF_popmax=7.35e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.622014;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +6 152469433 rs141586001 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19021;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon8:c.C1188G:p.H396Q,SYNE1:NM_001347701:exon10:c.C1329G:p.H443Q,SYNE1:NM_033071:exon136:c.C24510G:p.H8170Q,SYNE1:NM_182961:exon137:c.C24723G:p.H8241Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141586001;CLNALLELEID=191469;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.361;SIFT_converted_rankscore=0.140;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.255;LRT_converted_rankscore=0.154;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.201;MutationTaster_pred=N;MutationAssessor_score=1.27;MutationAssessor_score_rankscore=0.322;MutationAssessor_pred=L;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.045;MetaSVM_score=-1.040;MetaSVM_rankscore=0.173;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.070;MetaLR_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.057;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.526;CADD_raw_rankscore=0.016;CADD_phred=0.002;DANN_score=0.615;DANN_rankscore=0.066;fathmm-MKL_coding_score=0.052;fathmm-MKL_coding_rankscore=0.109;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.199;Eigen-PC-raw=-2.299;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-10.5;GERP++_RS_rankscore=0.002;phyloP100way_vertebrate=-1.185;phyloP100way_vertebrate_rankscore=0.032;phyloP20way_mammalian=-3.948;phyloP20way_mammalian_rankscore=0.000;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.009;phastCons20way_mammalian_rankscore=0.108;SiPhy_29way_logOdds=3.123;SiPhy_29way_logOdds_rankscore=0.060;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0005;AF_male=0.0005;AF_female=0.0001;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.429159;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152470752 rs17082236 C A 100 PASS AC=22;AF=0.115615;AN=214;NS=2504;DP=19066;EAS_AF=0.001;AMR_AF=0.0865;AFR_AF=0.3283;EUR_AF=0.0646;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon7:c.G967T:p.A323S,SYNE1:NM_001347701:exon9:c.G1108T:p.A370S,SYNE1:NM_033071:exon135:c.G24289T:p.A8097S,SYNE1:NM_182961:exon136:c.G24502T:p.A8168S;1000g2015aug_all=0.115615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082236;CLNALLELEID=135872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.433;SIFT_converted_rankscore=0.277;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.303;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.252;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_converted_rankscore=0.531;FATHMM_pred=T;PROVEAN_score=-1.66;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.043;VEST3_rankscore=0.036;MetaSVM_score=-1.055;MetaSVM_rankscore=0.131;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_rankscore=0.115;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.796;CADD_raw_rankscore=0.397;CADD_phred=21.3;DANN_score=0.990;DANN_rankscore=0.493;fathmm-MKL_coding_score=0.894;fathmm-MKL_coding_rankscore=0.495;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.495;Eigen-PC-raw=-0.297;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.373;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.96;GERP++_RS_rankscore=0.449;phyloP100way_vertebrate=1.575;phyloP100way_vertebrate_rankscore=0.359;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=10.982;SiPhy_29way_logOdds_rankscore=0.465;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0548;ExAC_nontcga_ALL=0.0668;ExAC_nontcga_AFR=0.2928;ExAC_nontcga_AMR=0.0526;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0449;ExAC_nontcga_NFE=0.0560;ExAC_nontcga_OTH=0.0749;ExAC_nontcga_SAS=0.0280;AF=0.1125;AF_popmax=0.2938;AF_male=0.1166;AF_female=0.1073;AF_raw=0.1127;AF_afr=0.2938;AF_sas=.;AF_amr=0.0825;AF_eas=0;AF_nfe=0.0438;AF_fin=0.0374;AF_asj=0.1103;AF_oth=0.0627;non_topmed_AF_popmax=0.2938;non_neuro_AF_popmax=0.2872;non_cancer_AF_popmax=.;controls_AF_popmax=0.2902;Kaviar_AF=0.0668038;Kaviar_AC=10328;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.193134;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 +6 152472631 rs2881823 A G 100 PASS AC=13;AF=0.024361;AN=214;NS=2504;DP=17696;EAS_AF=0.001;AMR_AF=0.0447;AFR_AF=0.0234;EUR_AF=0.0477;SAS_AF=0.0112;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.024361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2881823;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0313;AF_popmax=0.0401;AF_male=0.0301;AF_female=0.0329;AF_raw=0.0313;AF_afr=0.0268;AF_sas=.;AF_amr=0.0401;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0352;AF_asj=0.0552;AF_oth=0.0377;non_topmed_AF_popmax=0.0407;non_neuro_AF_popmax=0.0487;non_cancer_AF_popmax=.;controls_AF_popmax=0.0407;Kaviar_AF=0.0068304;Kaviar_AC=1056;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.811193;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152472660 rs2348080 T A 100 PASS AC=14;AF=0.0317492;AN=214;NS=2504;DP=17183;EAS_AF=0.001;AMR_AF=0.0476;AFR_AF=0.0446;EUR_AF=0.0487;SAS_AF=0.0174;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0317492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2348080;CLNALLELEID=252161;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.0378;ExAC_nontcga_AFR=0.0485;ExAC_nontcga_AMR=0.0318;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0466;ExAC_nontcga_NFE=0.0476;ExAC_nontcga_OTH=0.0538;ExAC_nontcga_SAS=0.0181;AF=0.0394;AF_popmax=0.0478;AF_male=0.0384;AF_female=0.0407;AF_raw=0.0394;AF_afr=0.0478;AF_sas=.;AF_amr=0.0460;AF_eas=0;AF_nfe=0.0379;AF_fin=0.0371;AF_asj=0.0828;AF_oth=0.0404;non_topmed_AF_popmax=0.0476;non_neuro_AF_popmax=0.0560;non_cancer_AF_popmax=.;controls_AF_popmax=0.0488;Kaviar_AF=0.0381302;Kaviar_AC=5895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.961588;ALLELE_END;VINYL_score=-1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152473136 rs533136794 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon5:c.C735A:p.D245E,SYNE1:NM_001347701:exon7:c.C876A:p.D292E,SYNE1:NM_033071:exon133:c.C24057A:p.D8019E,SYNE1:NM_182961:exon134:c.C24270A:p.D8090E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs533136794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.78;MutationAssessor_score_rankscore=0.814;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_converted_rankscore=0.460;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_converted_rankscore=0.735;PROVEAN_pred=D;VEST3_score=0.775;VEST3_rankscore=0.788;MetaSVM_score=-0.825;MetaSVM_rankscore=0.537;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.554;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.433;M-CAP_pred=T;REVEL_score=0.191;REVEL_rankscore=0.474;MutPred_score=0.225;MutPred_rankscore=0.150;CADD_raw=5.447;CADD_raw_rankscore=0.739;CADD_phred=26.1;DANN_score=0.997;DANN_rankscore=0.839;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_rankscore=0.528;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.760;Eigen-PC-raw=0.738;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.72;GERP++_RS_rankscore=0.893;phyloP100way_vertebrate=4.440;phyloP100way_vertebrate_rankscore=0.595;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=13.131;SiPhy_29way_logOdds_rankscore=0.586;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.725408;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152473181 rs910415 T C 100 PASS AC=14;AF=0.0365415;AN=214;NS=2504;DP=20195;EAS_AF=0.001;AMR_AF=0.0476;AFR_AF=0.0628;EUR_AF=0.0487;SAS_AF=0.0174;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon5:c.A690G:p.A230A,SYNE1:NM_001347701:exon7:c.A831G:p.A277A,SYNE1:NM_033071:exon133:c.A24012G:p.A8004A,SYNE1:NM_182961:exon134:c.A24225G:p.A8075A;1000g2015aug_all=0.0365415;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs910415;CLNALLELEID=135871;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0441;ExAC_nontcga_ALL=0.0391;ExAC_nontcga_AFR=0.0611;ExAC_nontcga_AMR=0.0324;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0468;ExAC_nontcga_NFE=0.0477;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0181;AF=0.0433;AF_popmax=0.0610;AF_male=0.0422;AF_female=0.0446;AF_raw=0.0433;AF_afr=0.0610;AF_sas=.;AF_amr=0.0483;AF_eas=0;AF_nfe=0.0381;AF_fin=0.0374;AF_asj=0.0828;AF_oth=0.0404;non_topmed_AF_popmax=0.0611;non_neuro_AF_popmax=0.0600;non_cancer_AF_popmax=.;controls_AF_popmax=0.0588;Kaviar_AF=0.039799;Kaviar_AC=6153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.283014;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +6 152476985 rs538693331 T G 100 PASS AC=5;AF=0.057508;AN=214;NS=2504;DP=17112;EAS_AF=0.1488;AMR_AF=0.0605;AFR_AF=0.0166;EUR_AF=0.0676;SAS_AF=0.0061;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.057508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs538693331;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.011065;Kaviar_AC=288;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152497500 rs41292868 C T 100 PASS AC=12;AF=0.0225639;AN=214;NS=2504;DP=18080;EAS_AF=0.001;AMR_AF=0.0389;AFR_AF=0.003;EUR_AF=0.0696;SAS_AF=0.0112;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41292868;CLNALLELEID=252163;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0597;ExAC_nontcga_ALL=0.0388;ExAC_nontcga_AFR=0.0092;ExAC_nontcga_AMR=0.0342;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0318;ExAC_nontcga_NFE=0.0589;ExAC_nontcga_OTH=0.0490;ExAC_nontcga_SAS=0.0129;AF=0.0382;AF_popmax=0.0574;AF_male=0.0388;AF_female=0.0375;AF_raw=0.0383;AF_afr=0.0103;AF_sas=.;AF_amr=0.0389;AF_eas=0;AF_nfe=0.0574;AF_fin=0.0374;AF_asj=0.0276;AF_oth=0.0487;non_topmed_AF_popmax=0.0532;non_neuro_AF_popmax=0.0589;non_cancer_AF_popmax=.;controls_AF_popmax=0.0527;Kaviar_AF=0.039896;Kaviar_AC=6168;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.696224;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 +6 152501313 rs147189751 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17558;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_001347701:exon2:c.T24C:p.N8N,SYNE1:NM_033071:exon128:c.T23205C:p.N7735N,SYNE1:NM_182961:exon129:c.T23418C:p.N7806N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147189751;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.103215;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152510429 rs139590550 G A 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=13873;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon127:c.C23046T:p.R7682R,SYNE1:NM_182961:exon128:c.C23259T:p.R7753R;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139590550;CLNALLELEID=266935;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0023;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0017;AF=0.0012;AF_popmax=0.0035;AF_male=0.0013;AF_female=0.0011;AF_raw=0.0012;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940664;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152510573 rs2635460 G A 100 PASS AC=1;AF=0.0680911;AN=214;NS=2504;DP=15578;EAS_AF=0.0843;AMR_AF=0.0245;AFR_AF=0.1566;EUR_AF=0.0089;SAS_AF=0.0235;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0680911;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2635460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0363;ExAC_nontcga_AFR=0.1287;ExAC_nontcga_AMR=0.0630;ExAC_nontcga_EAS=0.1120;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0104;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0220;AF=0.0502;AF_popmax=0.1265;AF_male=0.0506;AF_female=0.0496;AF_raw=0.0502;AF_afr=0.1265;AF_sas=.;AF_amr=0.0485;AF_eas=0.1133;AF_nfe=0.0084;AF_fin=0.0265;AF_asj=0.0069;AF_oth=0.0304;non_topmed_AF_popmax=0.1262;non_neuro_AF_popmax=0.1241;non_cancer_AF_popmax=.;controls_AF_popmax=0.1276;Kaviar_AF=0.0321406;Kaviar_AC=4969;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152522926 rs2253512 G A 100 PASS AC=47;AF=0.134585;AN=214;NS=2504;DP=16999;EAS_AF=0.1419;AMR_AF=0.147;AFR_AF=0.0605;EUR_AF=0.2127;SAS_AF=0.138;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.134585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2253512;CLNALLELEID=252165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1767;ExAC_nontcga_ALL=0.1481;ExAC_nontcga_AFR=0.0657;ExAC_nontcga_AMR=0.1266;ExAC_nontcga_EAS=0.1361;ExAC_nontcga_FIN=0.1372;ExAC_nontcga_NFE=0.1720;ExAC_nontcga_OTH=0.1513;ExAC_nontcga_SAS=0.1392;AF=0.1362;AF_popmax=0.1764;AF_male=0.1362;AF_female=0.1362;AF_raw=0.1364;AF_afr=0.0610;AF_sas=.;AF_amr=0.1572;AF_eas=0.1343;AF_nfe=0.1764;AF_fin=0.1299;AF_asj=0.1655;AF_oth=0.1682;non_topmed_AF_popmax=0.1804;non_neuro_AF_popmax=0.1752;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.14939;Kaviar_AC=23096;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.031737;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|1 0|0 1|1 0|1 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 1|1 1|0 0|0 1|0 0|0 0|1 0|0 +6 152523143 rs2635441 G A 100 PASS AC=141;AF=0.645567;AN=214;NS=2504;DP=17649;EAS_AF=0.626;AMR_AF=0.7176;AFR_AF=0.6793;EUR_AF=0.5934;SAS_AF=0.6227;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.645567;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2635441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5901;AF_popmax=0.6934;AF_male=0.5941;AF_female=0.5852;AF_raw=0.5898;AF_afr=0.6341;AF_sas=.;AF_amr=0.6934;AF_eas=0.6360;AF_nfe=0.5840;AF_fin=0.4673;AF_asj=0.5655;AF_oth=0.5753;non_topmed_AF_popmax=0.6889;non_neuro_AF_popmax=0.6949;non_cancer_AF_popmax=.;controls_AF_popmax=0.7398;Kaviar_AF=0.0003842;Kaviar_AC=10;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.201005;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|0 0|0 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 0|0 1|1 0|1 0|0 1|0 0|1 0|1 1|1 1|1 1|0 0|1 0|0 1|1 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|0 0|1 1|1 1|1 1|0 1|1 0|1 1|0 1|0 1|1 1|1 1|1 0|0 0|0 1|1 0|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 0|1 1|1 0|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 1|1 1|1 1|1 1|0 1|0 0|1 1|0 +6 152529122 rs34630198 G A 100 PASS AC=3;AF=0.00339457;AN=214;NS=2504;DP=21001;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22596T:p.L7532L,SYNE1:NM_182961:exon125:c.C22809T:p.L7603L;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34630198;CLNALLELEID=135870;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0111;ExAC_nontcga_AFR=0.0029;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0242;ExAC_nontcga_NFE=0.0167;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0024;AF=0.0134;AF_popmax=0.0190;AF_male=0.0133;AF_female=0.0136;AF_raw=0.0135;AF_afr=0.0034;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0190;AF_fin=0.0222;AF_asj=0.0172;AF_oth=0.0110;non_topmed_AF_popmax=0.0183;non_neuro_AF_popmax=0.0188;non_cancer_AF_popmax=.;controls_AF_popmax=0.0183;Kaviar_AF=0.0117851;Kaviar_AC=1822;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.448078;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152529260 rs3798756 G A 100 PASS AC=29;AF=0.155152;AN=214;NS=2504;DP=15324;EAS_AF=0.2133;AMR_AF=0.2378;AFR_AF=0.1067;EUR_AF=0.1272;SAS_AF=0.1309;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I;1000g2015aug_all=0.155152;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3798756;CLNALLELEID=135869;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1341;ExAC_nontcga_ALL=0.1448;ExAC_nontcga_AFR=0.1166;ExAC_nontcga_AMR=0.2096;ExAC_nontcga_EAS=0.2278;ExAC_nontcga_FIN=0.0878;ExAC_nontcga_NFE=0.1319;ExAC_nontcga_OTH=0.1470;ExAC_nontcga_SAS=0.1422;AF=0.1238;AF_popmax=0.2153;AF_male=0.1257;AF_female=0.1213;AF_raw=0.1237;AF_afr=0.1193;AF_sas=.;AF_amr=0.1958;AF_eas=0.2153;AF_nfe=0.1217;AF_fin=0.0873;AF_asj=0.1319;AF_oth=0.1169;non_topmed_AF_popmax=0.2167;non_neuro_AF_popmax=0.2153;non_cancer_AF_popmax=.;controls_AF_popmax=0.2063;Kaviar_AF=0.140451;Kaviar_AC=21714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.640757;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 +6 152532702 rs35763277 T C 100 PASS AC=4;AF=0.00459265;AN=214;NS=2504;DP=17739;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.0169;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon123:c.A22303G:p.S7435G,SYNE1:NM_182961:exon124:c.A22516G:p.S7506G;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35763277;CLNALLELEID=135868;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.06;SIFT_converted_rankscore=0.386;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=-2.93;PROVEAN_converted_rankscore=0.612;PROVEAN_pred=D;VEST3_score=0.213;VEST3_rankscore=0.764;MetaSVM_score=-0.631;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_rankscore=0.605;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.408;REVEL_rankscore=0.723;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.017;CADD_raw_rankscore=0.828;CADD_phred=27.9;DANN_score=0.999;DANN_rankscore=0.964;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.803;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.788;Eigen-PC-raw=0.776;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=5.62;GERP++_RS_rankscore=0.857;phyloP100way_vertebrate=7.895;phyloP100way_vertebrate_rankscore=0.858;phyloP20way_mammalian=1.058;phyloP20way_mammalian_rankscore=0.762;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.120;SiPhy_29way_logOdds_rankscore=0.811;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0171;ExAC_nontcga_ALL=0.0135;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0267;ExAC_nontcga_NFE=0.0212;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0029;AF=0.0114;AF_popmax=0.0143;AF_male=0.0112;AF_female=0.0117;AF_raw=0.0115;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0143;AF_fin=0.0265;AF_asj=0.0034;AF_oth=0.0156;non_topmed_AF_popmax=0.0138;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0100;Kaviar_AF=0.0133439;Kaviar_AC=2063;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0929036|N/A|MAFK|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.296241;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152534768 rs34891041 C T 100 PASS AC=5;AF=0.0205671;AN=214;NS=2504;DP=18365;EAS_AF=0.0129;AMR_AF=0.0173;AFR_AF=0.0378;EUR_AF=0.0249;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.G22260A:p.L7420L,SYNE1:NM_182961:exon123:c.G22473A:p.L7491L;1000g2015aug_all=0.0205671;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34891041;CLNALLELEID=135867;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0271;ExAC_nontcga_ALL=0.0254;ExAC_nontcga_AFR=0.0459;ExAC_nontcga_AMR=0.0068;ExAC_nontcga_EAS=0.0057;ExAC_nontcga_FIN=0.0343;ExAC_nontcga_NFE=0.0334;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0065;AF=0.0330;AF_popmax=0.0514;AF_male=0.0336;AF_female=0.0321;AF_raw=0.0329;AF_afr=0.0514;AF_sas=.;AF_amr=0.0059;AF_eas=0.0064;AF_nfe=0.0273;AF_fin=0.0331;AF_asj=0.0103;AF_oth=0.0294;non_topmed_AF_popmax=0.0515;non_neuro_AF_popmax=0.0493;non_cancer_AF_popmax=.;controls_AF_popmax=0.0509;Kaviar_AF=0.0249609;Kaviar_AC=3859;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.136858;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +6 152534789 rs36044575 T C 100 PASS AC=6;AF=0.0135783;AN=214;NS=2504;DP=18384;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0038;EUR_AF=0.0537;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.A22239G:p.S7413S,SYNE1:NM_182961:exon123:c.A22452G:p.S7484S;1000g2015aug_all=0.0135783;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36044575;CLNALLELEID=135866;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0302;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0912;ExAC_nontcga_NFE=0.0358;ExAC_nontcga_OTH=0.0288;ExAC_nontcga_SAS=0.0038;AF=0.0346;AF_popmax=0.0423;AF_male=0.0327;AF_female=0.0370;AF_raw=0.0347;AF_afr=0.0050;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0423;AF_fin=0.0906;AF_asj=0;AF_oth=0.0597;non_topmed_AF_popmax=0.0452;non_neuro_AF_popmax=0.0426;non_cancer_AF_popmax=.;controls_AF_popmax=0.0589;Kaviar_AF=0.0245275;Kaviar_AC=3792;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.091516;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152534946 rs684807 T A 100 PASS AC=214;AF=0.997005;AN=214;NS=2504;DP=19894;EAS_AF=1;AMR_AF=0.9928;AFR_AF=0.9992;EUR_AF=0.9911;SAS_AF=1;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.997005;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs684807;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9890;ExAC_nontcga_ALL=0.9940;ExAC_nontcga_AFR=0.9982;ExAC_nontcga_AMR=0.9955;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9930;ExAC_nontcga_NFE=0.9904;ExAC_nontcga_OTH=0.9971;ExAC_nontcga_SAS=0.9996;AF=0.9930;AF_popmax=1;AF_male=0.9930;AF_female=0.9931;AF_raw=0.9930;AF_afr=0.9987;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9893;AF_fin=0.9925;AF_asj=0.9862;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0099934;Kaviar_AC=1545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152534947 rs2763029 T A 100 PASS AC=83;AF=0.307508;AN=214;NS=2504;DP=19955;EAS_AF=0.2351;AMR_AF=0.3055;AFR_AF=0.2814;EUR_AF=0.4543;SAS_AF=0.2679;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.307508;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2763029;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4017;AF_popmax=0.4550;AF_male=0.3967;AF_female=0.4081;AF_raw=0.4017;AF_afr=0.3037;AF_sas=.;AF_amr=0.3377;AF_eas=0.1832;AF_nfe=0.4550;AF_fin=0.5141;AF_asj=0.4276;AF_oth=0.4300;non_topmed_AF_popmax=0.4558;non_neuro_AF_popmax=0.4573;non_cancer_AF_popmax=.;controls_AF_popmax=0.4788;Kaviar_AF=0.0625154;Kaviar_AC=9665;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|1 1|0 0|0 1|1 1|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 0|1 0|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|0 0|0 1|1 1|0 1|0 1|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|1 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|1 1|1 1|1 0|1 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|1 1|0 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|1 +6 152539350 rs9371243 C G 100 PASS AC=33;AF=0.279153;AN=214;NS=2504;DP=15498;EAS_AF=0.5347;AMR_AF=0.2233;AFR_AF=0.0938;EUR_AF=0.2058;SAS_AF=0.3814;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.279153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371243;CLNALLELEID=252167;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2219;ExAC_nontcga_ALL=0.2655;ExAC_nontcga_AFR=0.1167;ExAC_nontcga_AMR=0.2619;ExAC_nontcga_EAS=0.5801;ExAC_nontcga_FIN=0.3405;ExAC_nontcga_NFE=0.2197;ExAC_nontcga_OTH=0.2522;ExAC_nontcga_SAS=0.3216;AF=0.2262;AF_popmax=0.5682;AF_male=0.2232;AF_female=0.2301;AF_raw=0.2264;AF_afr=0.1141;AF_sas=.;AF_amr=0.2173;AF_eas=0.5682;AF_nfe=0.2272;AF_fin=0.3429;AF_asj=0.2793;AF_oth=0.25;non_topmed_AF_popmax=0.5659;non_neuro_AF_popmax=0.5682;non_cancer_AF_popmax=.;controls_AF_popmax=0.5660;Kaviar_AF=0.244719;Kaviar_AC=37834;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152539515 rs35686213 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=13752;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon120:c.C21855T:p.T7285T,SYNE1:NM_182961:exon121:c.C22068T:p.T7356T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35686213;CLNALLELEID=266366;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0024;AF_male=0.0009;AF_female=0.0007;AF_raw=0.0008;AF_afr=0.0009;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0009056;Kaviar_AC=140;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.901909;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152539572 rs528368656;rs35809482 TA TAA,T 100 PASS AC=31,57;AF=0.0453275,0.404952;AN=214;NS=2504;DP=13594;EAS_AF=0.001,0.4772;AMR_AF=0.0476,0.4395;AFR_AF=0.0424,0.382;EUR_AF=0.1153,0.3221;SAS_AF=0.0215,0.4223;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.662064;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.404952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35809482;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5183;ExAC_nontcga_AFR=0.4897;ExAC_nontcga_AMR=0.6836;ExAC_nontcga_EAS=0.7225;ExAC_nontcga_FIN=0.5804;ExAC_nontcga_NFE=0.4534;ExAC_nontcga_OTH=0.4985;ExAC_nontcga_SAS=0.5161;AF=0.4896;AF_popmax=0.7591;AF_male=0.4831;AF_female=0.4978;AF_raw=0.4831;AF_afr=0.4790;AF_sas=.;AF_amr=0.6189;AF_eas=0.7591;AF_nfe=0.4481;AF_fin=0.5631;AF_asj=0.4664;AF_oth=0.4843;non_topmed_AF_popmax=0.7563;non_neuro_AF_popmax=0.7591;non_cancer_AF_popmax=.;controls_AF_popmax=0.7489;Kaviar_AF=0.0046183;Kaviar_AC=714;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.662064;ALLELE_END;VINYL_score=-1 GT 0|2 0|0 0|1 2|0 2|0 1|0 0|2 2|0 0|0 2|0 0|2 2|0 2|0 0|0 0|2 0|2 0|0 2|0 0|1 1|0 0|2 2|2 2|0 0|2 0|1 0|0 0|0 0|0 0|2 2|0 0|2 2|0 2|2 0|2 1|0 0|2 0|0 0|0 1|0 2|0 0|0 2|1 0|1 0|1 0|0 0|0 2|0 0|1 1|2 0|0 0|0 2|0 0|0 0|1 0|2 2|1 0|1 2|0 1|0 0|0 0|2 0|0 0|2 2|0 0|0 1|0 2|0 0|1 2|0 2|1 2|0 2|0 1|0 2|0 0|0 0|2 1|0 2|0 0|2 2|0 2|0 2|0 0|0 2|0 0|2 0|2 0|0 0|1 0|1 2|0 0|2 0|0 2|0 0|0 2|0 2|0 0|0 0|1 1|0 1|0 0|0 1|0 0|1 0|1 0|1 0|1 0|2 +6 152540230 rs145494541 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17868;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.G21739A:p.A7247T,SYNE1:NM_182961:exon120:c.G21952A:p.A7318T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145494541;CLNALLELEID=268494;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.54;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.893;Polyphen2_HVAR_rankscore=0.671;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.535;MutationAssessor_score_rankscore=0.741;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_converted_rankscore=0.556;FATHMM_pred=T;PROVEAN_score=-0.75;PROVEAN_converted_rankscore=0.372;PROVEAN_pred=N;VEST3_score=0.442;VEST3_rankscore=0.691;MetaSVM_score=-0.772;MetaSVM_rankscore=0.568;MetaSVM_pred=T;MetaLR_score=0.261;MetaLR_rankscore=0.632;MetaLR_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.523;M-CAP_pred=D;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.652;CADD_raw_rankscore=0.496;CADD_phred=23.2;DANN_score=0.989;DANN_rankscore=0.480;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.565;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.458;Eigen-PC-raw=0.376;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.79;GERP++_RS_rankscore=0.917;phyloP100way_vertebrate=5.691;phyloP100way_vertebrate_rankscore=0.677;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.232;phastCons20way_mammalian_rankscore=0.224;SiPhy_29way_logOdds=19.617;SiPhy_29way_logOdds_rankscore=0.956;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.476e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.202e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0001;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.478390;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152540278 rs2147377 A C 100 PASS AC=211;AF=0.995607;AN=214;NS=2504;DP=17816;EAS_AF=1;AMR_AF=0.9899;AFR_AF=0.9992;EUR_AF=0.9861;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V;1000g2015aug_all=0.995607;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2147377;CLNALLELEID=135865;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.357;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=P;MutationAssessor_score=-2.32;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=0.82;FATHMM_converted_rankscore=0.481;FATHMM_pred=T;PROVEAN_score=2.18;PROVEAN_converted_rankscore=0.003;PROVEAN_pred=N;VEST3_score=0.03;VEST3_rankscore=0.103;MetaSVM_score=-0.974;MetaSVM_rankscore=0.363;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.224;CADD_raw_rankscore=0.074;CADD_phred=0.977;DANN_score=0.209;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.300;fathmm-MKL_coding_rankscore=0.238;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.085;Eigen-PC-raw=-0.867;GenoCanyon_score=0.531;GenoCanyon_score_rankscore=0.212;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=3.99;GERP++_RS_rankscore=0.454;phyloP100way_vertebrate=1.389;phyloP100way_vertebrate_rankscore=0.338;phyloP20way_mammalian=-0.398;phyloP20way_mammalian_rankscore=0.063;phastCons100way_vertebrate=0.942;phastCons100way_vertebrate_rankscore=0.325;phastCons20way_mammalian=0.127;phastCons20way_mammalian_rankscore=0.198;SiPhy_29way_logOdds=5.983;SiPhy_29way_logOdds_rankscore=0.185;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9901;ExAC_nontcga_ALL=0.9925;ExAC_nontcga_AFR=0.9981;ExAC_nontcga_AMR=0.9948;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9891;ExAC_nontcga_NFE=0.9886;ExAC_nontcga_OTH=0.9942;ExAC_nontcga_SAS=0.9988;AF=0.9919;AF_popmax=1;AF_male=0.9917;AF_female=0.9922;AF_raw=0.9919;AF_afr=0.9983;AF_sas=.;AF_amr=0.9929;AF_eas=1;AF_nfe=0.9889;AF_fin=0.9876;AF_asj=0.9862;AF_oth=0.9871;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.982057;Kaviar_AC=151828;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.536829;ALLELE_END;VINYL_score=3.5 GT 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152540357 rs17195304 T C 100 PASS AC=25;AF=0.0696885;AN=214;NS=2504;DP=18649;EAS_AF=0.0109;AMR_AF=0.1657;AFR_AF=0.0106;EUR_AF=0.1034;SAS_AF=0.1074;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0696885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17195304;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0913;ExAC_nontcga_ALL=0.0915;ExAC_nontcga_AFR=0.0191;ExAC_nontcga_AMR=0.2303;ExAC_nontcga_EAS=0.0086;ExAC_nontcga_FIN=0.0840;ExAC_nontcga_NFE=0.0899;ExAC_nontcga_OTH=0.0925;ExAC_nontcga_SAS=0.0851;AF=0.0638;AF_popmax=0.1993;AF_male=0.0629;AF_female=0.0649;AF_raw=0.0639;AF_afr=0.0179;AF_sas=.;AF_amr=0.1993;AF_eas=0.0148;AF_nfe=0.0810;AF_fin=0.0856;AF_asj=0.0897;AF_oth=0.0755;non_topmed_AF_popmax=0.2037;non_neuro_AF_popmax=0.1733;non_cancer_AF_popmax=.;controls_AF_popmax=0.1951;Kaviar_AF=0.0882848;Kaviar_AC=13649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152542234 rs9397492 G T 100 PASS AC=62;AF=0.389377;AN=214;NS=2504;DP=20413;EAS_AF=0.5486;AMR_AF=0.4135;AFR_AF=0.2231;EUR_AF=0.3191;SAS_AF=0.5051;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.389377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397492;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3296;AF_popmax=0.5863;AF_male=0.3272;AF_female=0.3327;AF_raw=0.3293;AF_afr=0.2510;AF_sas=.;AF_amr=0.4480;AF_eas=0.5863;AF_nfe=0.3161;AF_fin=0.4333;AF_asj=0.3931;AF_oth=0.3425;non_topmed_AF_popmax=0.5845;non_neuro_AF_popmax=0.5863;non_cancer_AF_popmax=.;controls_AF_popmax=0.5791;Kaviar_AF=0.066668;Kaviar_AC=10307;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.176582;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 1|0 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 1|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 1|0 1|0 1|0 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|1 1|0 1|0 1|1 0|0 1|0 1|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +6 152542548 rs9383976 A G 100 PASS AC=34;AF=0.337859;AN=214;NS=2504;DP=16635;EAS_AF=0.5367;AMR_AF=0.2493;AFR_AF=0.2995;EUR_AF=0.2078;SAS_AF=0.3814;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.337859;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383976;CLNALLELEID=252168;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2248;ExAC_nontcga_ALL=0.2862;ExAC_nontcga_AFR=0.3246;ExAC_nontcga_AMR=0.2747;ExAC_nontcga_EAS=0.5818;ExAC_nontcga_FIN=0.3416;ExAC_nontcga_NFE=0.2225;ExAC_nontcga_OTH=0.2558;ExAC_nontcga_SAS=0.3218;AF=0.2873;AF_popmax=0.5701;AF_male=0.2856;AF_female=0.2895;AF_raw=0.2878;AF_afr=0.3240;AF_sas=.;AF_amr=0.2423;AF_eas=0.5701;AF_nfe=0.2291;AF_fin=0.3459;AF_asj=0.2793;AF_oth=0.2647;non_topmed_AF_popmax=0.5679;non_neuro_AF_popmax=0.5701;non_cancer_AF_popmax=.;controls_AF_popmax=0.5636;Kaviar_AF=0.271601;Kaviar_AC=41990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.735379;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +6 152545600 rs147275274 G A 100 PASS AC=5;AF=0.00758786;AN=214;NS=2504;DP=17815;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0189;SAS_AF=0.0112;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147275274;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0241;ExAC_nontcga_ALL=0.0185;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0073;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0210;ExAC_nontcga_NFE=0.0258;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0180;AF=0.0179;AF_popmax=0.0261;AF_male=0.0167;AF_female=0.0195;AF_raw=0.0179;AF_afr=0.0046;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0261;AF_fin=0.0222;AF_asj=0.0069;AF_oth=0.0267;non_topmed_AF_popmax=0.0258;non_neuro_AF_popmax=0.0264;non_cancer_AF_popmax=.;controls_AF_popmax=0.0267;Kaviar_AF=0.0190101;Kaviar_AC=2939;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.009272;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152545865 rs17082358 T C 100 PASS AC=43;AF=0.124002;AN=214;NS=2504;DP=13107;EAS_AF=0.0456;AMR_AF=0.1095;AFR_AF=0.1899;EUR_AF=0.1839;SAS_AF=0.0644;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR3163;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.124002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1852;AF_popmax=0.1956;AF_male=0.1835;AF_female=0.1872;AF_raw=0.1852;AF_afr=0.1830;AF_sas=.;AF_amr=0.1029;AF_eas=0.0366;AF_nfe=0.1956;AF_fin=0.2267;AF_asj=0.1103;AF_oth=0.2218;non_topmed_AF_popmax=0.1946;non_neuro_AF_popmax=0.1958;non_cancer_AF_popmax=.;controls_AF_popmax=0.2052;Kaviar_AF=0.0030352;Kaviar_AC=79;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 0|1 0|1 0|0 +6 152555057 rs34905593 T A 100 PASS AC=3;AF=0.00978435;AN=214;NS=2504;DP=18611;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0209;SAS_AF=0.0215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon111:c.A20358T:p.S6786S,SYNE1:NM_182961:exon112:c.A20571T:p.S6857S;1000g2015aug_all=0.00978435;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34905593;CLNALLELEID=135864;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0259;ExAC_nontcga_ALL=0.0205;ExAC_nontcga_AFR=0.0043;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0267;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0250;AF=0.0185;AF_popmax=0.0255;AF_male=0.0178;AF_female=0.0193;AF_raw=0.0185;AF_afr=0.0042;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0255;AF_fin=0.0311;AF_asj=0.0069;AF_oth=0.0268;non_topmed_AF_popmax=0.0261;non_neuro_AF_popmax=0.0259;non_cancer_AF_popmax=.;controls_AF_popmax=0.0279;Kaviar_AF=0.0200256;Kaviar_AC=3096;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.595730;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152555112 rs2296254 C T 100 PASS AC=35;AF=0.208866;AN=214;NS=2504;DP=18942;EAS_AF=0.2401;AMR_AF=0.4049;AFR_AF=0.0514;EUR_AF=0.2227;SAS_AF=0.2362;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.208866;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2296254;CLNALLELEID=252170;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2167;ExAC_nontcga_ALL=0.2402;ExAC_nontcga_AFR=0.0778;ExAC_nontcga_AMR=0.4746;ExAC_nontcga_EAS=0.2204;ExAC_nontcga_FIN=0.2629;ExAC_nontcga_NFE=0.2230;ExAC_nontcga_OTH=0.2687;ExAC_nontcga_SAS=0.2197;AF=0.1973;AF_popmax=0.4422;AF_male=0.1909;AF_female=0.2053;AF_raw=0.1974;AF_afr=0.0776;AF_sas=.;AF_amr=0.4422;AF_eas=0.2199;AF_nfe=0.2308;AF_fin=0.2664;AF_asj=0.1966;AF_oth=0.2380;non_topmed_AF_popmax=0.4457;non_neuro_AF_popmax=0.4170;non_cancer_AF_popmax=.;controls_AF_popmax=0.4268;Kaviar_AF=0.229318;Kaviar_AC=35453;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.236054;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152555762 rs142325006 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19199;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142325006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0009;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0005;AF_popmax=0.0010;AF_male=0.0005;AF_female=0.0006;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0004981;Kaviar_AC=77;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152557178 rs558035577 G C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18053;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558035577;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0041;AF_male=0.0028;AF_female=0.0021;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0.0006;AF_nfe=0.0041;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0046;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0004204;Kaviar_AC=65;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +6 152557220 rs36215567 T C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=19277;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36215567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0174;ExAC_nontcga_NFE=0.0087;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0012;AF=0.0074;AF_popmax=0.0098;AF_male=0.0073;AF_female=0.0076;AF_raw=0.0074;AF_afr=0.0009;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0098;AF_fin=0.0181;AF_asj=0.0034;AF_oth=0.0101;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0101;non_cancer_AF_popmax=.;controls_AF_popmax=0.0092;Kaviar_AF=0.0061189;Kaviar_AC=946;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.952310;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152558111 rs36215566 T TA 100 PASS AC=35;AF=0.210264;AN=214;NS=2504;DP=18919;EAS_AF=0.2381;AMR_AF=0.4063;AFR_AF=0.0575;EUR_AF=0.2227;SAS_AF=0.2362;AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210264;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36215566;CLNALLELEID=252171;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2170;ExAC_nontcga_ALL=0.2383;ExAC_nontcga_AFR=0.0793;ExAC_nontcga_AMR=0.4755;ExAC_nontcga_EAS=0.2188;ExAC_nontcga_FIN=0.2635;ExAC_nontcga_NFE=0.2218;ExAC_nontcga_OTH=0.2766;ExAC_nontcga_SAS=0.2185;AF=0.1986;AF_popmax=0.4431;AF_male=0.1920;AF_female=0.2068;AF_raw=0.1989;AF_afr=0.0818;AF_sas=.;AF_amr=0.4431;AF_eas=0.2234;AF_nfe=0.2302;AF_fin=0.2667;AF_asj=0.1966;AF_oth=0.2426;non_topmed_AF_popmax=0.4454;non_neuro_AF_popmax=0.4145;non_cancer_AF_popmax=.;controls_AF_popmax=0.4268;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.440658;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152563312 rs144477556 T C 100 PASS AC=4;AF=0.00519169;AN=214;NS=2504;DP=18710;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0102;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144477556;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0043;AF_popmax=0.0065;AF_male=0.0055;AF_female=0.0027;AF_raw=0.0043;AF_afr=0.0015;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0065;AF_fin=0.0014;AF_asj=0.0172;AF_oth=0.0064;non_topmed_AF_popmax=0.0064;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152565669 rs150304757 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=18179;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0194;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150304757;CLNALLELEID=268517;CLNDN=Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.056;esp6500siv2_ea=0.0007;ExAC_nontcga_ALL=0.0051;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0297;AF=0.0004;AF_popmax=0.0035;AF_male=0.0006;AF_female=0.0001;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0038745;Kaviar_AC=599;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.344315;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152570274 rs17215781 A G 100 PASS AC=19;AF=0.0607029;AN=214;NS=2504;DP=19136;EAS_AF=0.0149;AMR_AF=0.1628;AFR_AF=0.0038;EUR_AF=0.0885;SAS_AF=0.0838;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0607029;GWAS=rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462;ORegAnno_REGULATORY_P=rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462;avsnp150=rs17215781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0780;ExAC_nontcga_ALL=0.0799;ExAC_nontcga_AFR=0.0125;ExAC_nontcga_AMR=0.2248;ExAC_nontcga_EAS=0.0118;ExAC_nontcga_FIN=0.0761;ExAC_nontcga_NFE=0.0780;ExAC_nontcga_OTH=0.0841;ExAC_nontcga_SAS=0.0589;AF=0.0552;AF_popmax=0.1887;AF_male=0.0540;AF_female=0.0569;AF_raw=0.0554;AF_afr=0.0139;AF_sas=.;AF_amr=0.1887;AF_eas=0.0135;AF_nfe=0.0688;AF_fin=0.0777;AF_asj=0.0897;AF_oth=0.0700;non_topmed_AF_popmax=0.1938;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.2033;Kaviar_AF=0.077554;Kaviar_AC=11990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.694021;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152570415 rs6557210 G A 100 PASS AC=109;AF=0.680711;AN=214;NS=2504;DP=18288;EAS_AF=0.879;AMR_AF=0.634;AFR_AF=0.649;EUR_AF=0.5915;SAS_AF=0.6442;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.680711;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6557210;CLNALLELEID=252172;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6098;ExAC_nontcga_ALL=0.6616;ExAC_nontcga_AFR=0.6561;ExAC_nontcga_AMR=0.6210;ExAC_nontcga_EAS=0.8964;ExAC_nontcga_FIN=0.7816;ExAC_nontcga_NFE=0.6227;ExAC_nontcga_OTH=0.6571;ExAC_nontcga_SAS=0.6603;AF=0.6748;AF_popmax=0.8859;AF_male=0.6689;AF_female=0.6821;AF_raw=0.6741;AF_afr=0.6516;AF_sas=.;AF_amr=0.6291;AF_eas=0.8859;AF_nfe=0.6467;AF_fin=0.7785;AF_asj=0.5966;AF_oth=0.6805;non_topmed_AF_popmax=0.8837;non_neuro_AF_popmax=0.8859;non_cancer_AF_popmax=.;controls_AF_popmax=0.8788;Kaviar_AF=0.639248;Kaviar_AC=98829;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.830414;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|1 1|1 0|0 1|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 0|0 0|0 1|1 1|0 0|1 1|0 0|1 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 1|1 0|1 0|0 0|1 0|0 1|1 0|1 1|1 0|0 1|0 1|0 0|0 1|1 0|1 1|1 0|1 0|1 1|0 1|0 1|1 0|0 0|0 0|0 0|1 1|0 1|1 0|1 0|0 1|1 1|1 0|1 1|0 0|0 1|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 1|1 1|0 0|0 1|0 1|1 0|1 0|1 0|1 1|1 +6 152577752 rs17082389 T C 100 PASS AC=9;AF=0.0764776;AN=214;NS=2504;DP=15587;EAS_AF=0.128;AMR_AF=0.049;AFR_AF=0.0598;EUR_AF=0.0487;SAS_AF=0.0941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0764776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082389;CLNALLELEID=252173;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0598;ExAC_nontcga_ALL=0.0711;ExAC_nontcga_AFR=0.0614;ExAC_nontcga_AMR=0.0325;ExAC_nontcga_EAS=0.1234;ExAC_nontcga_FIN=0.0201;ExAC_nontcga_NFE=0.0625;ExAC_nontcga_OTH=0.0677;ExAC_nontcga_SAS=0.1273;AF=0.0537;AF_popmax=0.1113;AF_male=0.0577;AF_female=0.0485;AF_raw=0.0538;AF_afr=0.0632;AF_sas=.;AF_amr=0.0461;AF_eas=0.1113;AF_nfe=0.0502;AF_fin=0.0222;AF_asj=0.0931;AF_oth=0.0395;non_topmed_AF_popmax=0.1121;non_neuro_AF_popmax=0.1113;non_cancer_AF_popmax=.;controls_AF_popmax=0.1182;Kaviar_AF=0.067677;Kaviar_AC=10463;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152589378 rs534925109 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17258;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs534925109;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.270465;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152590434 rs148664724 A G 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18449;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148664724;CLNALLELEID=299415;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0006;AF=0.0014;AF_popmax=0.0023;AF_male=0.0011;AF_female=0.0019;AF_raw=0.0014;AF_afr=0.0003;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0023;AF_fin=0.0006;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0012354;Kaviar_AC=191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.222423;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152599173 rs147222728 C T 100 PASS AC=2;AF=0.00439297;AN=214;NS=2504;DP=21502;EAS_AF=0.0109;AMR_AF=0;AFR_AF=0;EUR_AF=0.0089;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00439297;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147222728;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0111;ExAC_nontcga_FIN=0.0212;ExAC_nontcga_NFE=0.0076;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0043;AF=0.0070;AF_popmax=0.0096;AF_male=0.0058;AF_female=0.0085;AF_raw=0.0070;AF_afr=0.0021;AF_sas=.;AF_amr=0.0012;AF_eas=0.0096;AF_nfe=0.0075;AF_fin=0.0181;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0109;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001118515|TF_binding_site;ENSTFBS=Name\x3dTEAD4::MAX|ENSPFM0566|ENSM00205113205|8.40808342725;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1711525|N/A|HNF4A|PAZAR,OREG1736173|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152603139 rs9478310 T C 100 PASS AC=11;AF=0.0722843;AN=214;NS=2504;DP=18524;EAS_AF=0.0704;AMR_AF=0.0504;AFR_AF=0.0847;EUR_AF=0.0517;SAS_AF=0.0941;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0722843;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478310;CLNALLELEID=252174;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0645;ExAC_nontcga_ALL=0.0694;ExAC_nontcga_AFR=0.0896;ExAC_nontcga_AMR=0.0333;ExAC_nontcga_EAS=0.0563;ExAC_nontcga_FIN=0.0293;ExAC_nontcga_NFE=0.0655;ExAC_nontcga_OTH=0.0694;ExAC_nontcga_SAS=0.1182;AF=0.0651;AF_popmax=0.0888;AF_male=0.0689;AF_female=0.0603;AF_raw=0.0652;AF_afr=0.0888;AF_sas=.;AF_amr=0.0495;AF_eas=0.0417;AF_nfe=0.0627;AF_fin=0.0331;AF_asj=0.0897;AF_oth=0.0496;non_topmed_AF_popmax=0.0891;non_neuro_AF_popmax=0.0901;non_cancer_AF_popmax=.;controls_AF_popmax=0.0851;Kaviar_AF=0.0665774;Kaviar_AC=10293;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152605242 rs146027815 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18056;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon95:c.G17865A:p.E5955E,SYNE1:NM_182961:exon96:c.G18078A:p.E6026E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146027815;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.483e-05;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=7.343e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.309375;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152614766 rs200098925 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14500;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon94:c.C17756G:p.P5919R,SYNE1:NM_182961:exon95:c.C17969G:p.P5990R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200098925;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.095;SIFT_converted_rankscore=0.427;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_rankscore=0.390;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.078;Polyphen2_HVAR_rankscore=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.167;LRT_converted_rankscore=0.175;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.246;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_converted_rankscore=0.340;FATHMM_pred=T;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.463;PROVEAN_pred=N;VEST3_score=0.115;VEST3_rankscore=0.193;MetaSVM_score=-1.016;MetaSVM_rankscore=0.249;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_rankscore=0.117;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.300;M-CAP_pred=T;REVEL_score=0.068;REVEL_rankscore=0.203;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.546;CADD_raw_rankscore=0.248;CADD_phred=13.56;DANN_score=0.969;DANN_rankscore=0.311;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_rankscore=0.460;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.567;Eigen-PC-raw=-0.528;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.15;GERP++_RS_rankscore=0.351;phyloP100way_vertebrate=3.871;phyloP100way_vertebrate_rankscore=0.555;phyloP20way_mammalian=-0.405;phyloP20way_mammalian_rankscore=0.062;phastCons100way_vertebrate=0.968;phastCons100way_vertebrate_rankscore=0.339;phastCons20way_mammalian=0.049;phastCons20way_mammalian_rankscore=0.163;SiPhy_29way_logOdds=10.702;SiPhy_29way_logOdds_rankscore=0.449;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.122377;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152615042 rs73007780 G T 100 PASS AC=5;AF=0.0473243;AN=214;NS=2504;DP=17612;EAS_AF=0.0724;AMR_AF=0.0634;AFR_AF=0.0083;EUR_AF=0.0596;SAS_AF=0.0501;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0473243;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73007780;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0421;AF_popmax=0.0558;AF_male=0.0398;AF_female=0.0450;AF_raw=0.0421;AF_afr=0.0166;AF_sas=.;AF_amr=0.0472;AF_eas=0.0430;AF_nfe=0.0558;AF_fin=0.0449;AF_asj=0.0345;AF_oth=0.0386;non_topmed_AF_popmax=0.0562;non_neuro_AF_popmax=0.0596;non_cancer_AF_popmax=.;controls_AF_popmax=0.0569;Kaviar_AF=0.0104915;Kaviar_AC=1622;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.819075;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152615200 rs12664753 G A 100 PASS AC=41;AF=0.147764;AN=214;NS=2504;DP=16177;EAS_AF=0.1677;AMR_AF=0.1729;AFR_AF=0.0129;EUR_AF=0.1938;SAS_AF=0.2444;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon93:c.C17532T:p.H5844H,SYNE1:NM_182961:exon94:c.C17745T:p.H5915H;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12664753;CLNALLELEID=135861;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1917;ExAC_nontcga_ALL=0.1909;ExAC_nontcga_AFR=0.0362;ExAC_nontcga_AMR=0.2189;ExAC_nontcga_EAS=0.1941;ExAC_nontcga_FIN=0.2311;ExAC_nontcga_NFE=0.1971;ExAC_nontcga_OTH=0.1816;ExAC_nontcga_SAS=0.2195;AF=0.1533;AF_popmax=0.2086;AF_male=0.1501;AF_female=0.1574;AF_raw=0.1536;AF_afr=0.0349;AF_sas=.;AF_amr=0.1998;AF_eas=0.2086;AF_nfe=0.1926;AF_fin=0.2315;AF_asj=0.1552;AF_oth=0.1786;non_topmed_AF_popmax=0.2066;non_neuro_AF_popmax=0.2086;non_cancer_AF_popmax=.;controls_AF_popmax=0.2144;Kaviar_AF=0.184098;Kaviar_AC=28462;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.860939;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 1|0 1|1 0|0 0|0 1|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 1|0 0|0 1|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 +6 152621818 rs144418713 G A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=19666;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon92:c.C17427T:p.R5809R,SYNE1:NM_182961:exon93:c.C17640T:p.R5880R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144418713;CLNALLELEID=271054;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0006;AF_popmax=0.0012;AF_male=0.0006;AF_female=0.0006;AF_raw=0.0006;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.576573;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152621955 rs148405405 A G 100 PASS AC=2;AF=0.00379393;AN=214;NS=2504;DP=20385;EAS_AF=0.001;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00379393;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148405405;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0126;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0033;ExAC_nontcga_NFE=0.0108;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0029;AF=0.0075;AF_popmax=0.0120;AF_male=0.0071;AF_female=0.0080;AF_raw=0.0075;AF_afr=0.0019;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0120;AF_fin=0.0043;AF_asj=0.0103;AF_oth=0.0101;non_topmed_AF_popmax=0.0113;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0072962;Kaviar_AC=1128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.582865;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152623056 rs140452603 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon91:c.A17276T:p.D5759V,SYNE1:NM_182961:exon92:c.A17489T:p.D5830V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140452603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.606;Polyphen2_HVAR_rankscore=0.547;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.469;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_converted_rankscore=0.936;PROVEAN_pred=D;VEST3_score=0.456;VEST3_rankscore=0.557;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.309;MetaLR_pred=T;M-CAP_score=0.040;M-CAP_rankscore=0.592;M-CAP_pred=D;REVEL_score=0.224;REVEL_rankscore=0.526;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.841;CADD_raw_rankscore=0.800;CADD_phred=27.3;DANN_score=0.995;DANN_rankscore=0.652;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.691;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.445;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.267;integrated_fitCons_score_rankscore=0.040;integrated_confidence_value=1;GERP++_RS=5.61;GERP++_RS_rankscore=0.853;phyloP100way_vertebrate=7.581;phyloP100way_vertebrate_rankscore=0.817;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=16.101;SiPhy_29way_logOdds_rankscore=0.809;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.46e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205405|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1224039|N/A|SMARCA4|PAZAR,OREG1172553|N/A|TFAP2C|PAZAR,OREG1798829|N/A|RBL2|PAZAR,OREG1578113|N/A|FOXA1|PAZAR,OREG1780029|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.812403;ALLELE_END;VINYL_score=10 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152629586 rs9371581 G A 100 PASS AC=116;AF=0.457468;AN=214;NS=2504;DP=18695;EAS_AF=0.6488;AMR_AF=0.3963;AFR_AF=0.3238;EUR_AF=0.5517;SAS_AF=0.3875;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.457468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371581;CLNALLELEID=252176;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5247;ExAC_nontcga_ALL=0.4975;ExAC_nontcga_AFR=0.3417;ExAC_nontcga_AMR=0.4167;ExAC_nontcga_EAS=0.6421;ExAC_nontcga_FIN=0.6895;ExAC_nontcga_NFE=0.5308;ExAC_nontcga_OTH=0.5014;ExAC_nontcga_SAS=0.3816;AF=0.5109;AF_popmax=0.6527;AF_male=0.5013;AF_female=0.5230;AF_raw=0.5106;AF_afr=0.3432;AF_sas=.;AF_amr=0.4371;AF_eas=0.6527;AF_nfe=0.5540;AF_fin=0.6863;AF_asj=0.5070;AF_oth=0.5371;non_topmed_AF_popmax=0.6552;non_neuro_AF_popmax=0.6527;non_cancer_AF_popmax=.;controls_AF_popmax=0.6473;Kaviar_AF=0.497005;Kaviar_AC=76838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.369334;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.457468;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9371581;CLNALLELEID=252176;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5247;ExAC_nontcga_ALL=0.4975;ExAC_nontcga_AFR=0.3417;ExAC_nontcga_AMR=0.4167;ExAC_nontcga_EAS=0.6421;ExAC_nontcga_FIN=0.6895;ExAC_nontcga_NFE=0.5308;ExAC_nontcga_OTH=0.5014;ExAC_nontcga_SAS=0.3816;AF=0.5109;AF_popmax=0.6527;AF_male=0.5013;AF_female=0.5230;AF_raw=0.5106;AF_afr=0.3432;AF_sas=.;AF_amr=0.4371;AF_eas=0.6527;AF_nfe=0.5540;AF_fin=0.6863;AF_asj=0.5070;AF_oth=0.5371;non_topmed_AF_popmax=0.6552;non_neuro_AF_popmax=0.6527;non_cancer_AF_popmax=.;controls_AF_popmax=0.6473;Kaviar_AF=0.497005;Kaviar_AC=76838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.369334;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|1 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|1 0|0 0|0 1|1 0|1 1|1 0|0 0|0 1|1 1|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|1 1|1 1|1 0|0 0|0 1|1 0|1 1|0 1|0 1|0 0|0 1|1 0|0 1|0 0|1 1|1 1|1 0|0 1|1 1|0 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 0|1 0|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|1 0|1 0|0 1|1 1|1 1|0 0|1 1|0 0|0 0|0 1|0 1|0 0|1 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|0 0|0 0|1 1|1 1|0 1|1 0|1 0|1 1|0 0|0 0|1 0|1 0|1 1|1 1|1 0|0 1|1 0|1 0|1 1|1 0|1 0|1 +6 152629617 rs9383985 C T 100 PASS AC=73;AF=0.304313;AN=214;NS=2504;DP=18606;EAS_AF=0.5962;AMR_AF=0.2608;AFR_AF=0.0522;EUR_AF=0.326;SAS_AF=0.3528;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383985;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3235;ExAC_nontcga_ALL=0.3250;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.3259;ExAC_nontcga_EAS=0.5838;ExAC_nontcga_FIN=0.3552;ExAC_nontcga_NFE=0.3230;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.3276;AF=0.2806;AF_popmax=0.6062;AF_male=0.2773;AF_female=0.2847;AF_raw=0.2808;AF_afr=0.0875;AF_sas=.;AF_amr=0.3040;AF_eas=0.6062;AF_nfe=0.3331;AF_fin=0.3644;AF_asj=0.3986;AF_oth=0.3050;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6015;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166992;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.304313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383985;CLNALLELEID=135859;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=0.3235;ExAC_nontcga_ALL=0.3250;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.3259;ExAC_nontcga_EAS=0.5838;ExAC_nontcga_FIN=0.3552;ExAC_nontcga_NFE=0.3230;ExAC_nontcga_OTH=0.3199;ExAC_nontcga_SAS=0.3276;AF=0.2806;AF_popmax=0.6062;AF_male=0.2773;AF_female=0.2847;AF_raw=0.2808;AF_afr=0.0875;AF_sas=.;AF_amr=0.3040;AF_eas=0.6062;AF_nfe=0.3331;AF_fin=0.3644;AF_asj=0.3986;AF_oth=0.3050;non_topmed_AF_popmax=0.6089;non_neuro_AF_popmax=0.6062;non_cancer_AF_popmax=.;controls_AF_popmax=0.6015;Kaviar_AF=0.311484;Kaviar_AC=48156;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166992;ALLELE_END;VINYL_score=1 GT 0|1 1|1 1|0 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|1 0|0 0|0 1|1 0|1 1|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 0|0 1|0 1|0 0|0 0|1 0|0 1|0 0|0 1|1 1|1 0|0 1|1 1|0 1|0 0|1 1|0 1|1 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|0 0|1 +6 152629631 rs76160752 C T 100 PASS AC=2;AF=0.038139;AN=214;NS=2504;DP=18860;EAS_AF=0.0427;AMR_AF=0.0389;AFR_AF=0.0552;EUR_AF=0.0099;SAS_AF=0.0389;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;1000g2015aug_all=0.038139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76160752;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.322;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.437;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.107;MetaSVM_score=-1.094;MetaSVM_rankscore=0.049;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.151;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.154;CADD_raw_rankscore=0.849;CADD_phred=28.5;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.234;Eigen-PC-raw=-0.100;GenoCanyon_score=0.950;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.290;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0585;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0394;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0371;AF=0.0236;AF_popmax=0.0577;AF_male=0.0252;AF_female=0.0217;AF_raw=0.0237;AF_afr=0.0577;AF_sas=.;AF_amr=0.0189;AF_eas=0.0443;AF_nfe=0.0077;AF_fin=0.0040;AF_asj=0.0241;AF_oth=0.0111;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0662;non_cancer_AF_popmax=.;controls_AF_popmax=0.0603;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.286541;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;1000g2015aug_all=0.038139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76160752;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_converted_rankscore=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_rankscore=0.326;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.322;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.437;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_converted_rankscore=0.491;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.107;MetaSVM_score=-1.094;MetaSVM_rankscore=0.049;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.151;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.154;CADD_raw_rankscore=0.849;CADD_phred=28.5;DANN_score=0.998;DANN_rankscore=0.905;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_rankscore=0.422;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.234;Eigen-PC-raw=-0.100;GenoCanyon_score=0.950;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=3.16;GERP++_RS_rankscore=0.353;phyloP100way_vertebrate=1.290;phyloP100way_vertebrate_rankscore=0.327;phyloP20way_mammalian=0.018;phyloP20way_mammalian_rankscore=0.143;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=9.129;SiPhy_29way_logOdds_rankscore=0.358;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0071;ExAC_nontcga_ALL=0.0201;ExAC_nontcga_AFR=0.0585;ExAC_nontcga_AMR=0.0228;ExAC_nontcga_EAS=0.0394;ExAC_nontcga_FIN=0.0023;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0371;AF=0.0236;AF_popmax=0.0577;AF_male=0.0252;AF_female=0.0217;AF_raw=0.0237;AF_afr=0.0577;AF_sas=.;AF_amr=0.0189;AF_eas=0.0443;AF_nfe=0.0077;AF_fin=0.0040;AF_asj=0.0241;AF_oth=0.0111;non_topmed_AF_popmax=0.0570;non_neuro_AF_popmax=0.0662;non_cancer_AF_popmax=.;controls_AF_popmax=0.0603;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.286541;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152629772 rs544090383;rs535229755;rs535299168 GAA GAAA,GA,G 100 PASS AC=7,100,1;AF=0.0682907,0.426518,0.014377;AN=214;NS=2504;DP=20227;EAS_AF=0.0248,0.5476,0.0119;AMR_AF=0.0346,0.4957,0.0274;AFR_AF=0.1505,0.2958,0.0068;EUR_AF=0.0527,0.4145,0.0129;SAS_AF=0.0419,0.4417,0.0194;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=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ax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535299168;CLNALLELEID=196365;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0217;ExAC_nontcga_AFR=0.0099;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.0262;ExAC_nontcga_FIN=0.0138;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0.0220;ExAC_nontcga_SAS=0.0187;AF=0.0091;AF_popmax=0.0131;AF_male=0.0090;AF_female=0.0092;AF_raw=0.0083;AF_afr=0.0036;AF_sas=.;AF_amr=0.0039;AF_eas=0.0027;AF_nfe=0.0131;AF_fin=0.0099;AF_asj=0.0079;AF_oth=0.0104;non_topmed_AF_popmax=0.0131;non_neuro_AF_popmax=0.0128;non_cancer_AF_popmax=.;controls_AF_popmax=0.0114;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.828777;ALLELE_END;VINYL_score=1 GT 0|2 2|2 2|0 0|0 0|0 0|2 2|0 2|2 0|2 0|0 0|2 2|0 0|2 3|2 0|2 2|2 2|0 2|2 2|0 1|0 0|0 2|2 2|0 2|2 2|0 2|0 0|2 2|2 0|0 2|0 2|0 0|0 0|2 0|2 0|0 2|2 2|0 2|0 0|2 2|0 2|0 0|0 2|0 0|2 0|0 2|0 2|0 2|0 0|2 2|0 0|2 0|2 0|2 0|0 0|2 2|0 0|1 1|0 0|2 0|0 0|2 0|2 0|2 2|0 2|0 0|2 0|1 2|0 2|2 2|0 2|2 0|2 1|0 0|0 0|2 2|0 2|0 2|2 0|2 2|0 0|1 0|2 2|0 2|2 0|0 2|0 0|0 2|0 2|0 2|0 2|2 0|2 0|2 2|0 2|0 0|2 0|0 0|2 2|0 0|2 2|2 0|2 0|1 0|2 2|0 2|0 2|2 +6 152629815 rs4112833 C T 100 PASS AC=178;AF=0.884784;AN=214;NS=2504;DP=16370;EAS_AF=0.9841;AMR_AF=0.8934;AFR_AF=0.9372;EUR_AF=0.8091;SAS_AF=0.7832;AA=c|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.884784;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4112833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7880;ExAC_nontcga_ALL=0.8416;ExAC_nontcga_AFR=0.9187;ExAC_nontcga_AMR=0.9199;ExAC_nontcga_EAS=0.9894;ExAC_nontcga_FIN=0.8963;ExAC_nontcga_NFE=0.8013;ExAC_nontcga_OTH=0.8215;ExAC_nontcga_SAS=0.7883;AF=0.8697;AF_popmax=0.9929;AF_male=0.8697;AF_female=0.8695;AF_raw=0.8683;AF_afr=0.9234;AF_sas=.;AF_amr=0.9061;AF_eas=0.9929;AF_nfe=0.8188;AF_fin=0.9104;AF_asj=0.8264;AF_oth=0.8327;non_topmed_AF_popmax=0.9934;non_neuro_AF_popmax=0.9929;non_cancer_AF_popmax=.;controls_AF_popmax=0.9934;Kaviar_AF=0.816995;Kaviar_AC=126309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.884784;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4112833;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7880;ExAC_nontcga_ALL=0.8416;ExAC_nontcga_AFR=0.9187;ExAC_nontcga_AMR=0.9199;ExAC_nontcga_EAS=0.9894;ExAC_nontcga_FIN=0.8963;ExAC_nontcga_NFE=0.8013;ExAC_nontcga_OTH=0.8215;ExAC_nontcga_SAS=0.7883;AF=0.8697;AF_popmax=0.9929;AF_male=0.8697;AF_female=0.8695;AF_raw=0.8683;AF_afr=0.9234;AF_sas=.;AF_amr=0.9061;AF_eas=0.9929;AF_nfe=0.8188;AF_fin=0.9104;AF_asj=0.8264;AF_oth=0.8327;non_topmed_AF_popmax=0.9934;non_neuro_AF_popmax=0.9929;non_cancer_AF_popmax=.;controls_AF_popmax=0.9934;Kaviar_AF=0.816995;Kaviar_AC=126309;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|1 1|1 0|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 0|0 0|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152630946 rs12662994 C T 100 PASS AC=25;AF=0.117612;AN=214;NS=2504;DP=14419;EAS_AF=0.0863;AMR_AF=0.2896;AFR_AF=0.0371;EUR_AF=0.1034;SAS_AF=0.1513;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12662994;CLNALLELEID=252177;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0981;ExAC_nontcga_ALL=0.1271;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.3444;ExAC_nontcga_EAS=0.0921;ExAC_nontcga_FIN=0.0843;ExAC_nontcga_NFE=0.1012;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.1457;AF=0.0875;AF_popmax=0.2974;AF_male=0.0893;AF_female=0.0852;AF_raw=0.0876;AF_afr=0.0502;AF_sas=.;AF_amr=0.2974;AF_eas=0.1006;AF_nfe=0.0941;AF_fin=0.0849;AF_asj=0.1414;AF_oth=0.1041;non_topmed_AF_popmax=0.3015;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.119481;Kaviar_AC=18472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.219624;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.117612;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12662994;CLNALLELEID=252177;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0981;ExAC_nontcga_ALL=0.1271;ExAC_nontcga_AFR=0.0432;ExAC_nontcga_AMR=0.3444;ExAC_nontcga_EAS=0.0921;ExAC_nontcga_FIN=0.0843;ExAC_nontcga_NFE=0.1012;ExAC_nontcga_OTH=0.1167;ExAC_nontcga_SAS=0.1457;AF=0.0875;AF_popmax=0.2974;AF_male=0.0893;AF_female=0.0852;AF_raw=0.0876;AF_afr=0.0502;AF_sas=.;AF_amr=0.2974;AF_eas=0.1006;AF_nfe=0.0941;AF_fin=0.0849;AF_asj=0.1414;AF_oth=0.1041;non_topmed_AF_popmax=0.3015;non_neuro_AF_popmax=0.2862;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.119481;Kaviar_AC=18472;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.219624;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 +6 152631802 rs545568394 C CT 100 PASS AC=3;AF=0.00678914;AN=214;NS=2504;DP=18981;EAS_AF=0.001;AMR_AF=0.0115;AFR_AF=0.0038;EUR_AF=0.0149;SAS_AF=0.0051;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545568394;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0168;ExAC_nontcga_ALL=0.0189;ExAC_nontcga_AFR=0.0110;ExAC_nontcga_AMR=0.0153;ExAC_nontcga_EAS=0.0036;ExAC_nontcga_FIN=0.0184;ExAC_nontcga_NFE=0.0237;ExAC_nontcga_OTH=0.0375;ExAC_nontcga_SAS=0.0166;AF=0.0071;AF_popmax=0.0101;AF_male=0.0067;AF_female=0.0077;AF_raw=0.0075;AF_afr=0.0026;AF_sas=.;AF_amr=0.0052;AF_eas=0;AF_nfe=0.0101;AF_fin=0.0104;AF_asj=0;AF_oth=0.0059;non_topmed_AF_popmax=0.0097;non_neuro_AF_popmax=0.0100;non_cancer_AF_popmax=.;controls_AF_popmax=0.0097;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152632033 rs1538 G A 100 PASS AC=2;AF=0.0443291;AN=214;NS=2504;DP=19156;EAS_AF=0.1339;AMR_AF=0.0303;AFR_AF=0.0098;EUR_AF=0.0209;SAS_AF=0.0327;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0443291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1538;CLNALLELEID=252178;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0235;ExAC_nontcga_ALL=0.0411;ExAC_nontcga_AFR=0.0123;ExAC_nontcga_AMR=0.0615;ExAC_nontcga_EAS=0.1583;ExAC_nontcga_FIN=0.0479;ExAC_nontcga_NFE=0.0290;ExAC_nontcga_OTH=0.0419;ExAC_nontcga_SAS=0.0225;AF=0.0326;AF_popmax=0.1367;AF_male=0.0330;AF_female=0.0321;AF_raw=0.0326;AF_afr=0.0118;AF_sas=.;AF_amr=0.0354;AF_eas=0.1367;AF_nfe=0.0317;AF_fin=0.0423;AF_asj=0;AF_oth=0.0386;non_topmed_AF_popmax=0.1355;non_neuro_AF_popmax=0.1367;non_cancer_AF_popmax=.;controls_AF_popmax=0.1379;Kaviar_AF=0.034508;Kaviar_AC=5335;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152638192 rs117407502 C T 100 PASS AC=4;AF=0.00539137;AN=214;NS=2504;DP=16618;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0189;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117407502;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0087;AF_popmax=0.0121;AF_male=0.0088;AF_female=0.0086;AF_raw=0.0087;AF_afr=0.0030;AF_sas=.;AF_amr=0.0095;AF_eas=0;AF_nfe=0.0121;AF_fin=0.0095;AF_asj=0.0241;AF_oth=0.0120;non_topmed_AF_popmax=0.0108;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.002445;Kaviar_AC=378;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152639184 rs17082448 C G 100 PASS AC=8;AF=0.0864617;AN=214;NS=2504;DP=18274;EAS_AF=0.0278;AMR_AF=0.0375;AFR_AF=0.2201;EUR_AF=0.0348;SAS_AF=0.0542;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0864617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082448;CLNALLELEID=252179;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0463;ExAC_nontcga_ALL=0.0499;ExAC_nontcga_AFR=0.1999;ExAC_nontcga_AMR=0.0185;ExAC_nontcga_EAS=0.0301;ExAC_nontcga_FIN=0.0189;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0480;AF=0.0781;AF_popmax=0.1953;AF_male=0.0831;AF_female=0.0718;AF_raw=0.0780;AF_afr=0.1953;AF_sas=.;AF_amr=0.0342;AF_eas=0.0301;AF_nfe=0.0373;AF_fin=0.0147;AF_asj=0.0448;AF_oth=0.0331;non_topmed_AF_popmax=0.1964;non_neuro_AF_popmax=0.1910;non_cancer_AF_popmax=.;controls_AF_popmax=0.1889;Kaviar_AF=0.0496953;Kaviar_AC=7683;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.765294;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +6 152639350 rs200862904 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17303;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon85:c.G16225A:p.D5409N,SYNE1:NM_182961:exon86:c.G16438A:p.D5480N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200862904;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.023;SIFT_converted_rankscore=0.486;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.962;Polyphen2_HVAR_rankscore=0.690;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.497;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_score_rankscore=0.754;MutationAssessor_pred=M;FATHMM_score=1.44;FATHMM_converted_rankscore=0.327;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_converted_rankscore=0.715;PROVEAN_pred=D;VEST3_score=0.051;VEST3_rankscore=0.032;MetaSVM_score=-0.993;MetaSVM_rankscore=0.317;MetaSVM_pred=T;MetaLR_score=0.109;MetaLR_rankscore=0.393;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.469;M-CAP_pred=T;REVEL_score=0.138;REVEL_rankscore=0.377;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.336;CADD_raw_rankscore=0.875;CADD_phred=29.3;DANN_score=0.999;DANN_rankscore=0.944;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.668;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.367;Eigen-PC-raw=0.325;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.451;integrated_fitCons_score=0.653;integrated_fitCons_score_rankscore=0.482;integrated_confidence_value=0;GERP++_RS=3.88;GERP++_RS_rankscore=0.438;phyloP100way_vertebrate=4.333;phyloP100way_vertebrate_rankscore=0.588;phyloP20way_mammalian=0.049;phyloP20way_mammalian_rankscore=0.161;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=11.601;SiPhy_29way_logOdds_rankscore=0.501;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.417e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=0.0001;AF_male=5.722e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.530807;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640091 rs144376043 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17630;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.G16083A:p.R5361R,SYNE1:NM_182961:exon85:c.G16296A:p.R5432R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144376043;CLNALLELEID=269872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=9.554e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.216194;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640110 rs2306914 G A 100 PASS AC=5;AF=0.0463259;AN=214;NS=2504;DP=17552;EAS_AF=0.1419;AMR_AF=0.0331;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.C16064T:p.T5355M,SYNE1:NM_182961:exon85:c.C16277T:p.T5426M;1000g2015aug_all=0.0463259;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306914;CLNALLELEID=135857;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.188;SIFT_converted_rankscore=0.214;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.112;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.189;MutationTaster_pred=P;MutationAssessor_score=-1.5;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_converted_rankscore=0.485;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_converted_rankscore=0.045;PROVEAN_pred=N;VEST3_score=0.023;VEST3_rankscore=0.016;MetaSVM_score=-1.022;MetaSVM_rankscore=0.231;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.071;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.053;REVEL_rankscore=0.154;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.539;CADD_raw_rankscore=0.366;CADD_phred=19.72;DANN_score=0.613;DANN_rankscore=0.065;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.139;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.794;Eigen-PC-raw=-0.587;GenoCanyon_score=0.134;GenoCanyon_score_rankscore=0.171;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=0.286;GERP++_RS_rankscore=0.149;phyloP100way_vertebrate=0.908;phyloP100way_vertebrate_rankscore=0.280;phyloP20way_mammalian=0.148;phyloP20way_mammalian_rankscore=0.236;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=9.452;SiPhy_29way_logOdds_rankscore=0.377;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0272;ExAC_nontcga_ALL=0.0402;ExAC_nontcga_AFR=0.0042;ExAC_nontcga_AMR=0.0577;ExAC_nontcga_EAS=0.1639;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0290;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0264;AF=0.0330;AF_popmax=0.1598;AF_male=0.0333;AF_female=0.0327;AF_raw=0.0330;AF_afr=0.0063;AF_sas=.;AF_amr=0.0377;AF_eas=0.1598;AF_nfe=0.0338;AF_fin=0.0397;AF_asj=0.0069;AF_oth=0.0358;non_topmed_AF_popmax=0.1612;non_neuro_AF_popmax=0.1598;non_cancer_AF_popmax=.;controls_AF_popmax=0.1608;Kaviar_AF=0.0382789;Kaviar_AC=5918;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.569769;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152640160 rs201078255 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18437;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=t|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201078255;CLNALLELEID=299420;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.911e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.21e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.811e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.206946;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152642331 rs201136769 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16831;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201136769;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.953323;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152642795 rs540007312 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16651;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540007312;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152643070 rs117623694 C T 100 PASS AC=9;AF=0.0107827;AN=214;NS=2504;DP=16666;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.003;EUR_AF=0.0318;SAS_AF=0.0031;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0107827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117623694;CLNALLELEID=252182;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0409;ExAC_nontcga_ALL=0.0228;ExAC_nontcga_AFR=0.0071;ExAC_nontcga_AMR=0.0159;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0192;ExAC_nontcga_NFE=0.0360;ExAC_nontcga_OTH=0.0247;ExAC_nontcga_SAS=0.0046;AF=0.0232;AF_popmax=0.0348;AF_male=0.0235;AF_female=0.0227;AF_raw=0.0232;AF_afr=0.0079;AF_sas=.;AF_amr=0.0248;AF_eas=0;AF_nfe=0.0348;AF_fin=0.0201;AF_asj=0.0138;AF_oth=0.0249;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0351;non_cancer_AF_popmax=.;controls_AF_popmax=0.0277;Kaviar_AF=0.0249091;Kaviar_AC=3851;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809932|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152646279 rs9383987 G C 100 PASS AC=7;AF=0.0623003;AN=214;NS=2504;DP=15962;EAS_AF=0.1419;AMR_AF=0.0303;AFR_AF=0.0598;EUR_AF=0.0308;SAS_AF=0.0389;AA=g|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.C15384G:p.A5128A,SYNE1:NM_182961:exon81:c.C15597G:p.A5199A;1000g2015aug_all=0.0623003;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9383987;CLNALLELEID=135856;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0280;ExAC_nontcga_ALL=0.0450;ExAC_nontcga_AFR=0.0475;ExAC_nontcga_AMR=0.0583;ExAC_nontcga_EAS=0.1595;ExAC_nontcga_FIN=0.0346;ExAC_nontcga_NFE=0.0298;ExAC_nontcga_OTH=0.0403;ExAC_nontcga_SAS=0.0347;AF=0.0445;AF_popmax=0.1536;AF_male=0.0457;AF_female=0.0430;AF_raw=0.0446;AF_afr=0.0511;AF_sas=.;AF_amr=0.0377;AF_eas=0.1536;AF_nfe=0.0337;AF_fin=0.0340;AF_asj=0.0069;AF_oth=0.0389;non_topmed_AF_popmax=0.1555;non_neuro_AF_popmax=0.1536;non_cancer_AF_popmax=.;controls_AF_popmax=0.1513;Kaviar_AF=0.042548;Kaviar_AC=6578;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.365489;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152647388 rs199866067 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20351;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199866067;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.828e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152647681 rs2306916 A T 100 PASS AC=156;AF=0.814696;AN=214;NS=2504;DP=18523;EAS_AF=0.8492;AMR_AF=0.8444;AFR_AF=0.9546;EUR_AF=0.7475;SAS_AF=0.638;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M;1000g2015aug_all=0.814696;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306916;CLNALLELEID=135855;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.607;SIFT_converted_rankscore=0.055;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_rankscore=0.158;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.179;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_converted_rankscore=0.306;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.165;MutationAssessor_score_rankscore=0.043;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_converted_rankscore=0.367;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.051;VEST3_rankscore=0.062;MetaSVM_score=-0.977;MetaSVM_rankscore=0.358;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_rankscore=0.045;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.027;REVEL_rankscore=0.062;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.978;CADD_raw_rankscore=0.299;CADD_phred=16.07;DANN_score=0.785;DANN_rankscore=0.119;fathmm-MKL_coding_score=0.734;fathmm-MKL_coding_rankscore=0.356;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.646;Eigen-PC-raw=-0.403;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=2.928;phyloP100way_vertebrate_rankscore=0.484;phyloP20way_mammalian=0.088;phyloP20way_mammalian_rankscore=0.194;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=6.207;SiPhy_29way_logOdds_rankscore=0.197;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7494;ExAC_nontcga_ALL=0.7801;ExAC_nontcga_AFR=0.9322;ExAC_nontcga_AMR=0.8766;ExAC_nontcga_EAS=0.8386;ExAC_nontcga_FIN=0.8531;ExAC_nontcga_NFE=0.7583;ExAC_nontcga_OTH=0.7695;ExAC_nontcga_SAS=0.6449;AF=0.8322;AF_popmax=0.9347;AF_male=0.8336;AF_female=0.8306;AF_raw=0.8318;AF_afr=0.9347;AF_sas=.;AF_amr=0.8582;AF_eas=0.8363;AF_nfe=0.7755;AF_fin=0.8488;AF_asj=0.6759;AF_oth=0.7781;non_topmed_AF_popmax=0.9348;non_neuro_AF_popmax=0.9318;non_cancer_AF_popmax=.;controls_AF_popmax=0.9308;Kaviar_AF=0.771588;Kaviar_AC=119289;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.445550;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152650812 rs117418600 G A 100 PASS AC=6;AF=0.0115815;AN=214;NS=2504;DP=19713;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0015;EUR_AF=0.0288;SAS_AF=0.0123;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117418600;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0211;AF_popmax=0.0320;AF_male=0.0192;AF_female=0.0234;AF_raw=0.0211;AF_afr=0.0045;AF_sas=.;AF_amr=0.0083;AF_eas=0.0013;AF_nfe=0.0320;AF_fin=0.0276;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0351;non_neuro_AF_popmax=0.0320;non_cancer_AF_popmax=.;controls_AF_popmax=0.0399;Kaviar_AF=0.0041979;Kaviar_AC=649;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.279766;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152650903 rs35085679 G A 100 PASS AC=7;AF=0.033746;AN=214;NS=2504;DP=18385;EAS_AF=0.0198;AMR_AF=0.0245;AFR_AF=0.0333;EUR_AF=0.0368;SAS_AF=0.0521;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L;1000g2015aug_all=0.033746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35085679;CLNALLELEID=135854;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0285;ExAC_nontcga_AMR=0.0126;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0186;ExAC_nontcga_NFE=0.0384;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0473;AF=0.0306;AF_popmax=0.0375;AF_male=0.0328;AF_female=0.0280;AF_raw=0.0307;AF_afr=0.0272;AF_sas=.;AF_amr=0.0189;AF_eas=0.0263;AF_nfe=0.0375;AF_fin=0.0135;AF_asj=0.0517;AF_oth=0.0248;non_topmed_AF_popmax=0.0348;non_neuro_AF_popmax=0.0378;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.0345468;Kaviar_AC=5341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.609000;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152651521 rs150902491 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21849;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G14086A:p.E4696K,SYNE1:NM_182961:exon78:c.G14299A:p.E4767K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150902491;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.068;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.939;Polyphen2_HVAR_rankscore=0.657;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_score_rankscore=0.681;MutationAssessor_pred=M;FATHMM_score=0.65;FATHMM_converted_rankscore=0.527;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.634;VEST3_rankscore=0.652;MetaSVM_score=-0.974;MetaSVM_rankscore=0.364;MetaSVM_pred=T;MetaLR_score=0.168;MetaLR_rankscore=0.509;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.453;M-CAP_pred=T;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.083;CADD_raw_rankscore=0.548;CADD_phred=23.7;DANN_score=0.993;DANN_rankscore=0.584;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.778;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.364;Eigen-PC-raw=0.343;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=6.080;phyloP100way_vertebrate_rankscore=0.707;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.945;phastCons20way_mammalian_rankscore=0.419;SiPhy_29way_logOdds=20.134;SiPhy_29way_logOdds_rankscore=0.980;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.423402;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152651759 rs3734365 C G 100 PASS AC=18;AF=0.165136;AN=214;NS=2504;DP=20405;EAS_AF=0.4841;AMR_AF=0.0677;AFR_AF=0.0469;EUR_AF=0.0736;SAS_AF=0.1595;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G13848C:p.L4616L,SYNE1:NM_182961:exon78:c.G14061C:p.L4687L;1000g2015aug_all=0.165136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734365;CLNALLELEID=135852;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0621;ExAC_nontcga_ALL=0.0980;ExAC_nontcga_AFR=0.0445;ExAC_nontcga_AMR=0.0614;ExAC_nontcga_EAS=0.4291;ExAC_nontcga_FIN=0.0735;ExAC_nontcga_NFE=0.0589;ExAC_nontcga_OTH=0.0954;ExAC_nontcga_SAS=0.1345;AF=0.0768;AF_popmax=0.4471;AF_male=0.0774;AF_female=0.0760;AF_raw=0.0770;AF_afr=0.0387;AF_sas=.;AF_amr=0.0613;AF_eas=0.4471;AF_nfe=0.0644;AF_fin=0.0717;AF_asj=0.0483;AF_oth=0.0663;non_topmed_AF_popmax=0.4498;non_neuro_AF_popmax=0.4471;non_cancer_AF_popmax=.;controls_AF_popmax=0.4548;Kaviar_AF=0.0929289;Kaviar_AC=14367;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.093406;ALLELE_END;VINYL_score=1 GT 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152652034 rs6911096 A T 100 PASS AC=156;AF=0.803315;AN=214;NS=2504;DP=22567;EAS_AF=0.8591;AMR_AF=0.8386;AFR_AF=0.907;EUR_AF=0.7475;SAS_AF=0.638;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T;1000g2015aug_all=0.803315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6911096;CLNALLELEID=135851;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.568;SIFT_converted_rankscore=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.130;LRT_converted_rankscore=0.028;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.025;MutationAssessor_score_rankscore=0.080;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.105;PROVEAN_pred=N;VEST3_score=0.005;VEST3_rankscore=0.001;MetaSVM_score=-1.024;MetaSVM_rankscore=0.224;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-5.477;CADD_raw_rankscore=0.000;CADD_phred=0.001;DANN_score=0.200;DANN_rankscore=0.007;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_rankscore=0.061;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.793;Eigen-PC-raw=-2.870;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=-11.9;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=-2.486;phyloP100way_vertebrate_rankscore=0.010;phyloP20way_mammalian=-3.450;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=2.429;SiPhy_29way_logOdds_rankscore=0.042;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7490;ExAC_nontcga_ALL=0.7763;ExAC_nontcga_AFR=0.8864;ExAC_nontcga_AMR=0.8740;ExAC_nontcga_EAS=0.8466;ExAC_nontcga_FIN=0.8531;ExAC_nontcga_NFE=0.7580;ExAC_nontcga_OTH=0.7680;ExAC_nontcga_SAS=0.6454;AF=0.8212;AF_popmax=0.8953;AF_male=0.8214;AF_female=0.8208;AF_raw=0.8210;AF_afr=0.8953;AF_sas=.;AF_amr=0.8538;AF_eas=0.8468;AF_nfe=0.7747;AF_fin=0.8486;AF_asj=0.6759;AF_oth=0.7757;non_topmed_AF_popmax=0.8954;non_neuro_AF_popmax=0.8912;non_cancer_AF_popmax=.;controls_AF_popmax=0.8879;Kaviar_AF=0.768211;Kaviar_AC=118767;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.062178;ALLELE_END;VINYL_score=2.5 GT 1|1 0|1 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|0 0|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152652599 rs10499268 G A 100 PASS AC=7;AF=0.0335463;AN=214;NS=2504;DP=21161;EAS_AF=0.0198;AMR_AF=0.0245;AFR_AF=0.0333;EUR_AF=0.0368;SAS_AF=0.0511;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D;1000g2015aug_all=0.0335463;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10499268;CLNALLELEID=135850;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0437;ExAC_nontcga_ALL=0.0338;ExAC_nontcga_AFR=0.0285;ExAC_nontcga_AMR=0.0128;ExAC_nontcga_EAS=0.0232;ExAC_nontcga_FIN=0.0186;ExAC_nontcga_NFE=0.0386;ExAC_nontcga_OTH=0.0332;ExAC_nontcga_SAS=0.0468;AF=0.0308;AF_popmax=0.0378;AF_male=0.0328;AF_female=0.0283;AF_raw=0.0308;AF_afr=0.0273;AF_sas=.;AF_amr=0.0189;AF_eas=0.025;AF_nfe=0.0378;AF_fin=0.0138;AF_asj=0.0552;AF_oth=0.0248;non_topmed_AF_popmax=0.0351;non_neuro_AF_popmax=0.0381;non_cancer_AF_popmax=.;controls_AF_popmax=0.0276;Kaviar_AF=0.035006;Kaviar_AC=5412;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.671387;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152653037 rs9478314 T C 100 PASS AC=93;AF=0.413139;AN=214;NS=2504;DP=23075;EAS_AF=0.1319;AMR_AF=0.6239;AFR_AF=0.5378;EUR_AF=0.4443;SAS_AF=0.3528;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.413139;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478314;CLNALLELEID=252183;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.4607;ExAC_nontcga_ALL=0.4610;ExAC_nontcga_AFR=0.5368;ExAC_nontcga_AMR=0.6815;ExAC_nontcga_EAS=0.1646;ExAC_nontcga_FIN=0.4514;ExAC_nontcga_NFE=0.4703;ExAC_nontcga_OTH=0.4536;ExAC_nontcga_SAS=0.3860;AF=0.4800;AF_popmax=0.6533;AF_male=0.4754;AF_female=0.4857;AF_raw=0.4799;AF_afr=0.5495;AF_sas=.;AF_amr=0.6533;AF_eas=0.1292;AF_nfe=0.4715;AF_fin=0.4669;AF_asj=0.5172;AF_oth=0.4438;non_topmed_AF_popmax=0.6605;non_neuro_AF_popmax=0.6390;non_cancer_AF_popmax=.;controls_AF_popmax=0.6179;Kaviar_AF=0.454457;Kaviar_AC=70260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.542474;ALLELE_END;VINYL_score=1 GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|1 0|1 1|0 0|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 0|1 0|0 1|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|1 1|1 1|0 1|0 1|1 0|1 1|1 0|1 0|1 0|0 0|0 1|0 0|1 0|0 1|1 0|0 1|1 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 1|1 0|1 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|1 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|0 1|1 +6 152658062 rs117501809 C G 100 PASS AC=2;AF=0.0123802;AN=214;NS=2504;DP=18830;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12229C:p.D4077H,SYNE1:NM_182961:exon76:c.G12442C:p.D4148H;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117501809;CLNALLELEID=135848;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.807;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.125;MutationAssessor_score_rankscore=0.592;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_converted_rankscore=0.571;FATHMM_pred=T;PROVEAN_score=-2.8;PROVEAN_converted_rankscore=0.592;PROVEAN_pred=D;VEST3_score=0.348;VEST3_rankscore=0.409;MetaSVM_score=-0.509;MetaSVM_rankscore=0.684;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_rankscore=0.662;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.317;REVEL_rankscore=0.643;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.665;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.980;DANN_rankscore=0.369;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.986;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.818;Eigen-PC-raw=0.797;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.47;GERP++_RS_rankscore=0.803;phyloP100way_vertebrate=7.902;phyloP100way_vertebrate_rankscore=0.860;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=19.325;SiPhy_29way_logOdds_rankscore=0.942;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0326;ExAC_nontcga_ALL=0.0272;ExAC_nontcga_AFR=0.0058;ExAC_nontcga_AMR=0.0098;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0315;ExAC_nontcga_NFE=0.0369;ExAC_nontcga_OTH=0.0303;ExAC_nontcga_SAS=0.0296;AF=0.0217;AF_popmax=0.0329;AF_male=0.0218;AF_female=0.0216;AF_raw=0.0217;AF_afr=0.0048;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0329;AF_fin=0.0253;AF_asj=0.0034;AF_oth=0.0322;non_topmed_AF_popmax=0.0317;non_neuro_AF_popmax=0.0338;non_cancer_AF_popmax=.;controls_AF_popmax=0.0315;Kaviar_AF=0.0265068;Kaviar_AC=4098;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.240878;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658141 rs28385621 C A 100 PASS AC=13;AF=0.0876597;AN=214;NS=2504;DP=17211;EAS_AF=0.1171;AMR_AF=0.062;AFR_AF=0.0749;EUR_AF=0.0696;SAS_AF=0.1115;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12150T:p.K4050N,SYNE1:NM_182961:exon76:c.G12363T:p.K4121N;1000g2015aug_all=0.0876597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28385621;CLNALLELEID=135847;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.230;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.195;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.085;VEST3_rankscore=0.080;MetaSVM_score=-1.091;MetaSVM_rankscore=0.054;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_rankscore=0.121;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.991;CADD_raw_rankscore=0.420;CADD_phred=22.2;DANN_score=0.931;DANN_rankscore=0.222;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.805;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.389;Eigen-PC-raw=-0.256;GenoCanyon_score=0.374;GenoCanyon_score_rankscore=0.199;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.69;GERP++_RS_rankscore=0.413;phyloP100way_vertebrate=1.144;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=11.386;SiPhy_29way_logOdds_rankscore=0.488;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0764;ExAC_nontcga_AFR=0.0589;ExAC_nontcga_AMR=0.0593;ExAC_nontcga_EAS=0.1138;ExAC_nontcga_FIN=0.0536;ExAC_nontcga_NFE=0.0737;ExAC_nontcga_OTH=0.0669;ExAC_nontcga_SAS=0.0987;AF=0.0635;AF_popmax=0.1085;AF_male=0.0652;AF_female=0.0614;AF_raw=0.0635;AF_afr=0.0544;AF_sas=.;AF_amr=0.0613;AF_eas=0.1085;AF_nfe=0.0687;AF_fin=0.0452;AF_asj=0.0759;AF_oth=0.0562;non_topmed_AF_popmax=0.1066;non_neuro_AF_popmax=0.1085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0993;Kaviar_AF=0.0677546;Kaviar_AC=10475;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051304;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658142 rs9479297 T C 100 PASS AC=154;AF=0.793131;AN=214;NS=2504;DP=17239;EAS_AF=0.8631;AMR_AF=0.7147;AFR_AF=0.9569;EUR_AF=0.7416;SAS_AF=0.6084;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R;1000g2015aug_all=0.793131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479297;CLNALLELEID=135846;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_converted_rankscore=0.297;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-1.81;MutationAssessor_score_rankscore=0.003;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=1.08;PROVEAN_converted_rankscore=0.014;PROVEAN_pred=N;VEST3_score=0.025;VEST3_rankscore=0.011;MetaSVM_score=-0.969;MetaSVM_rankscore=0.375;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.034;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.371;CADD_raw_rankscore=0.130;CADD_phred=6.360;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_rankscore=0.198;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.835;Eigen-PC-raw=-0.578;GenoCanyon_score=0.066;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=4.48;GERP++_RS_rankscore=0.538;phyloP100way_vertebrate=1.496;phyloP100way_vertebrate_rankscore=0.350;phyloP20way_mammalian=0.067;phyloP20way_mammalian_rankscore=0.174;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.964;phastCons20way_mammalian_rankscore=0.448;SiPhy_29way_logOdds=9.174;SiPhy_29way_logOdds_rankscore=0.361;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7194;ExAC_nontcga_ALL=0.7532;ExAC_nontcga_AFR=0.9296;ExAC_nontcga_AMR=0.7053;ExAC_nontcga_EAS=0.8543;ExAC_nontcga_FIN=0.8368;ExAC_nontcga_NFE=0.7482;ExAC_nontcga_OTH=0.7602;ExAC_nontcga_SAS=0.6220;AF=0.8196;AF_popmax=0.9313;AF_male=0.8221;AF_female=0.8164;AF_raw=0.8192;AF_afr=0.9313;AF_sas=.;AF_amr=0.7069;AF_eas=0.8492;AF_nfe=0.7634;AF_fin=0.8351;AF_asj=0.6655;AF_oth=0.7569;non_topmed_AF_popmax=0.9311;non_neuro_AF_popmax=0.9295;non_cancer_AF_popmax=.;controls_AF_popmax=0.9274;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.051304;ALLELE_END;VINYL_score=2.5 GT 1|1 0|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152658191 rs9479298 T C 100 PASS AC=155;AF=0.790136;AN=214;NS=2504;DP=17165;EAS_AF=0.8631;AMR_AF=0.7133;AFR_AF=0.9455;EUR_AF=0.7425;SAS_AF=0.6084;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.790136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479298;CLNALLELEID=252186;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7401;ExAC_nontcga_ALL=0.7568;ExAC_nontcga_AFR=0.9214;ExAC_nontcga_AMR=0.7141;ExAC_nontcga_EAS=0.8580;ExAC_nontcga_FIN=0.8398;ExAC_nontcga_NFE=0.7533;ExAC_nontcga_OTH=0.7674;ExAC_nontcga_SAS=0.6269;AF=0.8169;AF_popmax=0.9225;AF_male=0.8192;AF_female=0.8139;AF_raw=0.8166;AF_afr=0.9225;AF_sas=.;AF_amr=0.7052;AF_eas=0.8492;AF_nfe=0.7632;AF_fin=0.8348;AF_asj=0.6655;AF_oth=0.7560;non_topmed_AF_popmax=0.9222;non_neuro_AF_popmax=0.9226;non_cancer_AF_popmax=.;controls_AF_popmax=0.9191;Kaviar_AF=0.723891;Kaviar_AC=111915;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|1 0|0 1|1 0|0 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|0 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 0|1 1|1 1|1 0|1 0|1 0|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 1|0 1|0 0|1 1|1 1|0 1|0 0|0 0|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|0 0|1 0|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 +6 152658192 rs548788559 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17168;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548788559;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152658216 rs9479299 A G 100 PASS AC=82;AF=0.242212;AN=214;NS=2504;DP=17783;EAS_AF=0.1329;AMR_AF=0.4683;AFR_AF=0.1044;EUR_AF=0.3946;SAS_AF=0.2239;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242212;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9479299;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3255;AF_popmax=0.4610;AF_male=0.3194;AF_female=0.3332;AF_raw=0.3256;AF_afr=0.1488;AF_sas=.;AF_amr=0.4610;AF_eas=0.1284;AF_nfe=0.4128;AF_fin=0.4234;AF_asj=0.4172;AF_oth=0.3416;non_topmed_AF_popmax=0.4667;non_neuro_AF_popmax=0.4529;non_cancer_AF_popmax=.;controls_AF_popmax=0.4228;Kaviar_AF=0.0719008;Kaviar_AC=11116;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|1 1|0 1|0 0|0 1|1 1|0 0|0 0|1 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|1 1|1 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|1 0|1 1|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 1|1 1|1 0|0 0|0 1|0 0|0 1|1 +6 152660310 rs4870095 A G 100 PASS AC=64;AF=0.157149;AN=214;NS=2504;DP=20141;EAS_AF=0.0446;AMR_AF=0.3905;AFR_AF=0.0204;EUR_AF=0.333;SAS_AF=0.1115;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.157149;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4870095;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2526;AF_popmax=0.3762;AF_male=0.2456;AF_female=0.2615;AF_raw=0.2531;AF_afr=0.0664;AF_sas=.;AF_amr=0.3762;AF_eas=0.0462;AF_nfe=0.3498;AF_fin=0.3382;AF_asj=0.3403;AF_oth=0.2711;non_topmed_AF_popmax=0.3815;non_neuro_AF_popmax=0.3592;non_cancer_AF_popmax=.;controls_AF_popmax=0.3455;Kaviar_AF=0.0587056;Kaviar_AC=9076;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 1|0 0|0 1|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 1|0 0|0 0|1 0|0 1|0 0|1 0|0 0|1 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|1 0|1 0|1 0|0 0|1 1|0 0|0 0|1 0|1 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|1 1|0 0|1 0|0 0|1 0|0 1|1 0|0 0|0 1|0 0|0 0|1 +6 152660451 rs71575926 G A 100 PASS AC=30;AF=0.0732827;AN=214;NS=2504;DP=19444;EAS_AF=0.0258;AMR_AF=0.072;AFR_AF=0.0817;EUR_AF=0.1471;SAS_AF=0.0358;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon74:c.C12063T:p.L4021L,SYNE1:NM_182961:exon75:c.C12276T:p.L4092L;1000g2015aug_all=0.0732827;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71575926;CLNALLELEID=135845;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1315;ExAC_nontcga_ALL=0.1121;ExAC_nontcga_AFR=0.0876;ExAC_nontcga_AMR=0.0547;ExAC_nontcga_EAS=0.0296;ExAC_nontcga_FIN=0.2602;ExAC_nontcga_NFE=0.1417;ExAC_nontcga_OTH=0.1369;ExAC_nontcga_SAS=0.0458;AF=0.1351;AF_popmax=0.1467;AF_male=0.1326;AF_female=0.1383;AF_raw=0.1353;AF_afr=0.0893;AF_sas=.;AF_amr=0.0613;AF_eas=0.0385;AF_nfe=0.1467;AF_fin=0.2536;AF_asj=0.0379;AF_oth=0.1799;non_topmed_AF_popmax=0.1522;non_neuro_AF_popmax=0.1476;non_cancer_AF_popmax=.;controls_AF_popmax=0.1714;Kaviar_AF=0.113368;Kaviar_AC=17527;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.141639;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|0 +6 152665261 rs4645434 C A 100 PASS AC=129;AF=0.545527;AN=214;NS=2504;DP=18310;EAS_AF=0.6488;AMR_AF=0.6182;AFR_AF=0.4138;EUR_AF=0.6024;SAS_AF=0.5072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D;1000g2015aug_all=0.545527;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4645434;CLNALLELEID=135844;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.071;SIFT_converted_rankscore=0.351;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_rankscore=0.281;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_rankscore=0.244;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.392;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.182;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_converted_rankscore=0.350;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_converted_rankscore=0.289;PROVEAN_pred=N;VEST3_score=0.007;VEST3_rankscore=0.001;MetaSVM_score=-0.976;MetaSVM_rankscore=0.360;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.062;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.058;REVEL_rankscore=0.171;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.235;CADD_raw_rankscore=0.117;CADD_phred=5.046;DANN_score=0.149;DANN_rankscore=0.003;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_rankscore=0.482;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.142;Eigen-PC-raw=-1.085;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.052;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.25;GERP++_RS_rankscore=0.089;phyloP100way_vertebrate=0.394;phyloP100way_vertebrate_rankscore=0.204;phyloP20way_mammalian=-0.863;phyloP20way_mammalian_rankscore=0.028;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.019;phastCons20way_mammalian_rankscore=0.132;SiPhy_29way_logOdds=10.963;SiPhy_29way_logOdds_rankscore=0.464;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6178;ExAC_nontcga_ALL=0.5740;ExAC_nontcga_AFR=0.4475;ExAC_nontcga_AMR=0.5963;ExAC_nontcga_EAS=0.6428;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.6025;ExAC_nontcga_OTH=0.5778;ExAC_nontcga_SAS=0.5128;AF=0.5587;AF_popmax=0.6575;AF_male=0.5587;AF_female=0.5586;AF_raw=0.5586;AF_afr=0.4487;AF_sas=.;AF_amr=0.6123;AF_eas=0.6575;AF_nfe=0.6082;AF_fin=0.5552;AF_asj=0.6632;AF_oth=0.5350;non_topmed_AF_popmax=0.6548;non_neuro_AF_popmax=0.6575;non_cancer_AF_popmax=.;controls_AF_popmax=0.6557;Kaviar_AF=0.575245;Kaviar_AC=88934;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413721|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.515273;ALLELE_END;VINYL_score=3.5 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|0 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152665303 rs60344647 C T 100 PASS AC=1;AF=0.0269569;AN=214;NS=2504;DP=19421;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0961;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11925A:p.Q3975Q,SYNE1:NM_182961:exon74:c.G12138A:p.Q4046Q;1000g2015aug_all=0.0269569;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60344647;CLNALLELEID=135843;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0825;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0242;AF_popmax=0.0839;AF_male=0.0257;AF_female=0.0223;AF_raw=0.0243;AF_afr=0.0839;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0241;AF_oth=0.0074;non_topmed_AF_popmax=0.0841;non_neuro_AF_popmax=0.0778;non_cancer_AF_popmax=.;controls_AF_popmax=0.0779;Kaviar_AF=0.0084152;Kaviar_AC=1301;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1413721|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.348241;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152665374 rs73783853 C A 100 PASS AC=1;AF=0.00938498;AN=214;NS=2504;DP=20305;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.034;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73783853;CLNALLELEID=301950;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0030;ExAC_nontcga_AFR=0.0208;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0070;AF_popmax=0.0231;AF_male=0.0071;AF_female=0.0069;AF_raw=0.0070;AF_afr=0.0231;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0241;AF_oth=0.0037;non_topmed_AF_popmax=0.0229;non_neuro_AF_popmax=0.0224;non_cancer_AF_popmax=.;controls_AF_popmax=0.0229;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.552186;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668211 rs111449472 A G 100 PASS AC=5;AF=0.00539137;AN=214;NS=2504;DP=18057;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.003;EUR_AF=0.0119;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.T11848C:p.C3950R,SYNE1:NM_182961:exon73:c.T12061C:p.C4021R;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111449472;CLNALLELEID=252187;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.05;MutationAssessor_score_rankscore=0.567;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_converted_rankscore=0.330;FATHMM_pred=T;PROVEAN_score=-4.93;PROVEAN_converted_rankscore=0.847;PROVEAN_pred=D;VEST3_score=0.318;VEST3_rankscore=0.465;MetaSVM_score=-0.916;MetaSVM_rankscore=0.461;MetaSVM_pred=T;MetaLR_score=0.139;MetaLR_rankscore=0.458;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.307;REVEL_rankscore=0.632;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.385;CADD_raw_rankscore=0.882;CADD_phred=29.5;DANN_score=0.958;DANN_rankscore=0.273;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.897;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.666;Eigen-PC-raw=0.701;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=8.890;phyloP100way_vertebrate_rankscore=0.921;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.987;SiPhy_29way_logOdds_rankscore=0.799;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0151;ExAC_nontcga_ALL=0.0114;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0181;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0044;AF=0.0104;AF_popmax=0.0148;AF_male=0.0112;AF_female=0.0095;AF_raw=0.0104;AF_afr=0.0032;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0148;AF_fin=0.0147;AF_asj=0.0138;AF_oth=0.0110;non_topmed_AF_popmax=0.0152;non_neuro_AF_popmax=0.0156;non_cancer_AF_popmax=.;controls_AF_popmax=0.0145;Kaviar_AF=0.0110801;Kaviar_AC=1713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478054;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668215 rs144596829 C T 100 PASS AC=3;AF=0.00479233;AN=214;NS=2504;DP=17951;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11844A:p.A3948A,SYNE1:NM_182961:exon73:c.G12057A:p.A4019A;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144596829;CLNALLELEID=135842;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0130;ExAC_nontcga_ALL=0.0089;ExAC_nontcga_AFR=0.0023;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0031;AF=0.0075;AF_popmax=0.0114;AF_male=0.0066;AF_female=0.0085;AF_raw=0.0075;AF_afr=0.0014;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0114;AF_fin=0.0104;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0107;Kaviar_AF=0.0094565;Kaviar_AC=1462;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.478054;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152668272 rs148493518 C T 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=18100;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11787A:p.A3929A,SYNE1:NM_182961:exon73:c.G12000A:p.A4000A;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148493518;CLNALLELEID=195815;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0080;ExAC_nontcga_ALL=0.0054;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0153;ExAC_nontcga_NFE=0.0074;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0010;AF=0.0064;AF_popmax=0.0080;AF_male=0.0062;AF_female=0.0066;AF_raw=0.0064;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0080;AF_fin=0.0164;AF_asj=0;AF_oth=0.0129;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0085;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.166504;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671475 rs9478320 A C 100 PASS AC=130;AF=0.58746;AN=214;NS=2504;DP=19601;EAS_AF=0.6171;AMR_AF=0.6282;AFR_AF=0.584;EUR_AF=0.6004;SAS_AF=0.5194;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.58746;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478320;CLNALLELEID=252188;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.7992;dbscSNV_RF_SCORE=0.178;esp6500siv2_ea=0.6098;ExAC_nontcga_ALL=0.5825;ExAC_nontcga_AFR=0.5664;ExAC_nontcga_AMR=0.6026;ExAC_nontcga_EAS=0.6083;ExAC_nontcga_FIN=0.5454;ExAC_nontcga_NFE=0.5998;ExAC_nontcga_OTH=0.5793;ExAC_nontcga_SAS=0.5234;AF=0.5897;AF_popmax=0.6210;AF_male=0.5899;AF_female=0.5894;AF_raw=0.5898;AF_afr=0.5697;AF_sas=.;AF_amr=0.6123;AF_eas=0.6210;AF_nfe=0.6060;AF_fin=0.5565;AF_asj=0.6621;AF_oth=0.5424;non_topmed_AF_popmax=0.6194;non_neuro_AF_popmax=0.6210;non_cancer_AF_popmax=.;controls_AF_popmax=0.6253;Kaviar_AF=0.578227;Kaviar_AC=89395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.073976;ALLELE_END;VINYL_score=1.5 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152671499 rs139150802 A T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19762;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139150802;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0043;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0052;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0005;AF=0.0031;AF_popmax=0.0059;AF_male=0.0034;AF_female=0.0028;AF_raw=0.0031;AF_afr=0.0007;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0047;AF_fin=0.0014;AF_asj=0.0241;AF_oth=0.0018;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0032082;Kaviar_AC=496;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.859266;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671865 rs13210127 T G 100 PASS AC=4;AF=0.0543131;AN=214;NS=2504;DP=18027;EAS_AF=0.1359;AMR_AF=0.0216;AFR_AF=0.0159;EUR_AF=0.0139;SAS_AF=0.0869;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon71:c.A11576C:p.K3859T,SYNE1:NM_182961:exon71:c.A11621C:p.K3874T;1000g2015aug_all=0.0543131;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13210127;CLNALLELEID=135841;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.101;SIFT_converted_rankscore=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.209;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.052;Polyphen2_HVAR_rankscore=0.241;Polyphen2_HVAR_pred=B;LRT_score=0.110;LRT_converted_rankscore=0.194;LRT_pred=N;MutationTaster_score=0.020;MutationTaster_converted_rankscore=0.516;MutationTaster_pred=P;MutationAssessor_score=1.62;MutationAssessor_score_rankscore=0.416;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.473;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.299;MetaSVM_score=-1.053;MetaSVM_rankscore=0.135;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.108;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.016;REVEL_rankscore=0.026;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.231;CADD_raw_rankscore=0.329;CADD_phred=17.71;DANN_score=0.949;DANN_rankscore=0.251;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_rankscore=0.488;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.498;Eigen-PC-raw=-0.389;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.070;integrated_fitCons_score=0.476;integrated_fitCons_score_rankscore=0.093;integrated_confidence_value=0;GERP++_RS=2.3;GERP++_RS_rankscore=0.276;phyloP100way_vertebrate=0.447;phyloP100way_vertebrate_rankscore=0.213;phyloP20way_mammalian=0.088;phyloP20way_mammalian_rankscore=0.194;phastCons100way_vertebrate=0.868;phastCons100way_vertebrate_rankscore=0.305;phastCons20way_mammalian=0.723;phastCons20way_mammalian_rankscore=0.315;SiPhy_29way_logOdds=7.263;SiPhy_29way_logOdds_rankscore=0.252;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0201;ExAC_nontcga_ALL=0.0382;ExAC_nontcga_AFR=0.0097;ExAC_nontcga_AMR=0.0387;ExAC_nontcga_EAS=0.1347;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0188;ExAC_nontcga_OTH=0.0317;ExAC_nontcga_SAS=0.0776;AF=0.0222;AF_popmax=0.1213;AF_male=0.0223;AF_female=0.0222;AF_raw=0.0223;AF_afr=0.0091;AF_sas=.;AF_amr=0.0378;AF_eas=0.1213;AF_nfe=0.0184;AF_fin=0.0242;AF_asj=0.0172;AF_oth=0.0239;non_topmed_AF_popmax=0.1204;non_neuro_AF_popmax=0.1213;non_cancer_AF_popmax=.;controls_AF_popmax=0.1212;Kaviar_AF=0.0347667;Kaviar_AC=5375;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118052;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152671919 rs5880967 G GA 100 PASS AC=130;AF=0.56889;AN=214;NS=2504;DP=17790;EAS_AF=0.6161;AMR_AF=0.6196;AFR_AF=0.5189;EUR_AF=0.6014;SAS_AF=0.5184;AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.56889;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5880967;CLNALLELEID=306415;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.5742;ExAC_nontcga_AFR=0.5131;ExAC_nontcga_AMR=0.5992;ExAC_nontcga_EAS=0.6047;ExAC_nontcga_FIN=0.5449;ExAC_nontcga_NFE=0.5969;ExAC_nontcga_OTH=0.5727;ExAC_nontcga_SAS=0.5124;AF=0.5812;AF_popmax=0.6206;AF_male=0.5808;AF_female=0.5816;AF_raw=0.5751;AF_afr=0.5280;AF_sas=.;AF_amr=0.6146;AF_eas=0.6206;AF_nfe=0.6100;AF_fin=0.5666;AF_asj=0.6597;AF_oth=0.5385;non_topmed_AF_popmax=0.6190;non_neuro_AF_popmax=0.6206;non_cancer_AF_popmax=.;controls_AF_popmax=0.6256;Kaviar_AF=0.0643265;Kaviar_AC=9945;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.955237;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152671975 rs1387549 A G 100 PASS AC=130;AF=0.571286;AN=214;NS=2504;DP=19112;EAS_AF=0.6161;AMR_AF=0.6225;AFR_AF=0.525;EUR_AF=0.6014;SAS_AF=0.5204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.571286;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1387549;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5777;AF_popmax=0.6218;AF_male=0.5772;AF_female=0.5783;AF_raw=0.5779;AF_afr=0.5282;AF_sas=.;AF_amr=0.6111;AF_eas=0.6218;AF_nfe=0.6055;AF_fin=0.5559;AF_asj=0.6621;AF_oth=0.5370;non_topmed_AF_popmax=0.6202;non_neuro_AF_popmax=0.6218;non_cancer_AF_popmax=.;controls_AF_popmax=0.6258;Kaviar_AF=0.11703;Kaviar_AC=18093;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673147 rs6908392 G A 100 PASS AC=130;AF=0.565895;AN=214;NS=2504;DP=20442;EAS_AF=0.6161;AMR_AF=0.6196;AFR_AF=0.5061;EUR_AF=0.6014;SAS_AF=0.5204;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.565895;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6908392;CLNALLELEID=252189;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6134;ExAC_nontcga_ALL=0.5769;ExAC_nontcga_AFR=0.5055;ExAC_nontcga_AMR=0.5987;ExAC_nontcga_EAS=0.6058;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5751;ExAC_nontcga_SAS=0.5252;AF=0.5736;AF_popmax=0.6213;AF_male=0.5723;AF_female=0.5753;AF_raw=0.5729;AF_afr=0.5111;AF_sas=.;AF_amr=0.6120;AF_eas=0.6213;AF_nfe=0.6068;AF_fin=0.5565;AF_asj=0.6621;AF_oth=0.5359;non_topmed_AF_popmax=0.6197;non_neuro_AF_popmax=0.6213;non_cancer_AF_popmax=.;controls_AF_popmax=0.6264;Kaviar_AF=0.576668;Kaviar_AC=89154;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673312 rs137919524 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19522;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon70:c.G11385A:p.T3795T,SYNE1:NM_182961:exon70:c.G11430A:p.T3810T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137919524;CLNALLELEID=269294;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0039;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0010;AF=0.0011;AF_popmax=0.0015;AF_male=0.0011;AF_female=0.0010;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0025;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.253947;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152673519 rs6932325 A C 100 PASS AC=130;AF=0.567492;AN=214;NS=2504;DP=19116;EAS_AF=0.6151;AMR_AF=0.6225;AFR_AF=0.5113;EUR_AF=0.6014;SAS_AF=0.5204;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.567492;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6932325;CLNALLELEID=252190;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6127;ExAC_nontcga_ALL=0.5776;ExAC_nontcga_AFR=0.5111;ExAC_nontcga_AMR=0.5989;ExAC_nontcga_EAS=0.6058;ExAC_nontcga_FIN=0.5453;ExAC_nontcga_NFE=0.6000;ExAC_nontcga_OTH=0.5737;ExAC_nontcga_SAS=0.5247;AF=0.5741;AF_popmax=0.6187;AF_male=0.5735;AF_female=0.5749;AF_raw=0.5735;AF_afr=0.5166;AF_sas=.;AF_amr=0.6089;AF_eas=0.6187;AF_nfe=0.6059;AF_fin=0.5534;AF_asj=0.6597;AF_oth=0.5358;non_topmed_AF_popmax=0.6177;non_neuro_AF_popmax=0.6187;non_cancer_AF_popmax=.;controls_AF_popmax=0.6197;Kaviar_AF=0.56952;Kaviar_AC=88049;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152673543 rs11370219 C CT,CTT 100 PASS AC=119,1;AF=0.495807,0.00838658;AN=214;NS=2504;DP=19420;EAS_AF=0.498,0.0169;AMR_AF=0.5274,0.0058;AFR_AF=0.466,0.0098;EUR_AF=0.5378,0.002;SAS_AF=0.4683,0.0061;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.495807;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11370219;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5624;AF_popmax=0.6161;AF_male=0.5611;AF_female=0.5642;AF_raw=0.5354;AF_afr=0.5139;AF_sas=.;AF_amr=0.5733;AF_eas=0.6161;AF_nfe=0.5956;AF_fin=0.4829;AF_asj=0.664;AF_oth=0.5206;non_topmed_AF_popmax=0.6150;non_neuro_AF_popmax=0.6161;non_cancer_AF_popmax=.;controls_AF_popmax=0.6153;Kaviar_AF=0.0001921;Kaviar_AC=5;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00838658;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0045;AF_popmax=0.0095;AF_male=0.0050;AF_female=0.0037;AF_raw=0.0061;AF_afr=0.0095;AF_sas=.;AF_amr=0.005;AF_eas=0.0073;AF_nfe=0.0010;AF_fin=0.0059;AF_asj=0.004;AF_oth=0.0039;non_topmed_AF_popmax=0.0094;non_neuro_AF_popmax=0.0083;non_cancer_AF_popmax=.;controls_AF_popmax=0.0103;Kaviar_AF=0.0019978;Kaviar_AC=52;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=10 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 1|1 1|0 1|0 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|1 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 0|1 1|1 0|1 0|1 0|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|0 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|1 2|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|0 0|1 0|1 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 +6 152674464 rs143070183 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=20815;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon69:c.G11142T:p.K3714N,SYNE1:NM_182961:exon69:c.G11187T:p.K3729N;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143070183;CLNALLELEID=195539;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.096;SIFT_converted_rankscore=0.310;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.186;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=0.980;MutationTaster_converted_rankscore=0.251;MutationTaster_pred=N;MutationAssessor_score=1.385;MutationAssessor_score_rankscore=0.346;MutationAssessor_pred=L;FATHMM_score=0.59;FATHMM_converted_rankscore=0.540;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=-1.076;MetaSVM_rankscore=0.081;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.304;M-CAP_pred=T;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.840;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.944;DANN_rankscore=0.242;fathmm-MKL_coding_score=0.810;fathmm-MKL_coding_rankscore=0.402;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.437;Eigen-PC-raw=-0.277;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.063;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=3.05;GERP++_RS_rankscore=0.341;phyloP100way_vertebrate=0.377;phyloP100way_vertebrate_rankscore=0.201;phyloP20way_mammalian=0.070;phyloP20way_mammalian_rankscore=0.177;phastCons100way_vertebrate=0.995;phastCons100way_vertebrate_rankscore=0.385;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=4.006;SiPhy_29way_logOdds_rankscore=0.090;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0073;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0018;AF=0.0041;AF_popmax=0.0061;AF_male=0.0041;AF_female=0.0041;AF_raw=0.0041;AF_afr=0.0018;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0061;AF_fin=0.0029;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0058;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0045342;Kaviar_AC=701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.235883;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152674524 rs149260051 T C 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20776;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon69:c.A11082G:p.E3694E,SYNE1:NM_182961:exon69:c.A11127G:p.E3709E;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149260051;CLNALLELEID=267930;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0026;AF_male=0.0013;AF_female=0.0014;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0026;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0009832;Kaviar_AC=152;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.163144;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152675854 rs9397102 A G 100 PASS AC=130;AF=0.568291;AN=214;NS=2504;DP=19686;EAS_AF=0.6171;AMR_AF=0.6196;AFR_AF=0.5136;EUR_AF=0.6014;SAS_AF=0.5215;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;1000g2015aug_all=0.568291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397102;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6133;ExAC_nontcga_ALL=0.5778;ExAC_nontcga_AFR=0.5130;ExAC_nontcga_AMR=0.5996;ExAC_nontcga_EAS=0.6093;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5735;ExAC_nontcga_SAS=0.5247;AF=0.5763;AF_popmax=0.6248;AF_male=0.5756;AF_female=0.5772;AF_raw=0.5762;AF_afr=0.5215;AF_sas=.;AF_amr=0.6120;AF_eas=0.6248;AF_nfe=0.6059;AF_fin=0.5562;AF_asj=0.6597;AF_oth=0.5379;non_topmed_AF_popmax=0.6234;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.465042;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;1000g2015aug_all=0.568291;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397102;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6133;ExAC_nontcga_ALL=0.5778;ExAC_nontcga_AFR=0.5130;ExAC_nontcga_AMR=0.5996;ExAC_nontcga_EAS=0.6093;ExAC_nontcga_FIN=0.5452;ExAC_nontcga_NFE=0.5997;ExAC_nontcga_OTH=0.5735;ExAC_nontcga_SAS=0.5247;AF=0.5763;AF_popmax=0.6248;AF_male=0.5756;AF_female=0.5772;AF_raw=0.5762;AF_afr=0.5215;AF_sas=.;AF_amr=0.6120;AF_eas=0.6248;AF_nfe=0.6059;AF_fin=0.5562;AF_asj=0.6597;AF_oth=0.5379;non_topmed_AF_popmax=0.6234;non_neuro_AF_popmax=0.6248;non_cancer_AF_popmax=.;controls_AF_popmax=0.6297;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.465042;ALLELE_END;VINYL_score=1 GT 1|1 1|0 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|0 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|0 1|1 0|0 1|0 1|1 0|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 1|1 0|1 1|1 1|0 0|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 0|0 0|1 +6 152679518 rs145911138 C T 100 PASS AC=6;AF=0.0071885;AN=214;NS=2504;DP=18570;EAS_AF=0.001;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0133;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.G10619A:p.R3540H,SYNE1:NM_182961:exon66:c.G10598A:p.R3533H;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145911138;CLNALLELEID=135838;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.16;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.025;Polyphen2_HDIV_rankscore=0.201;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_converted_rankscore=0.244;LRT_pred=N;MutationTaster_score=0.972;MutationTaster_converted_rankscore=0.389;MutationTaster_pred=D;MutationAssessor_score=0.945;MutationAssessor_score_rankscore=0.238;MutationAssessor_pred=L;FATHMM_score=0.6;FATHMM_converted_rankscore=0.537;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_converted_rankscore=0.283;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.044;MetaSVM_score=-1.034;MetaSVM_rankscore=0.190;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_rankscore=0.270;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.028;REVEL_rankscore=0.066;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.946;CADD_raw_rankscore=0.531;CADD_phred=23.6;DANN_score=0.933;DANN_rankscore=0.225;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_rankscore=0.372;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.236;Eigen-PC-raw=-0.093;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.081;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=3.23;GERP++_RS_rankscore=0.360;phyloP100way_vertebrate=1.970;phyloP100way_vertebrate_rankscore=0.399;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.865;phastCons20way_mammalian_rankscore=0.361;SiPhy_29way_logOdds=12.872;SiPhy_29way_logOdds_rankscore=0.572;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.02;ExAC_nontcga_ALL=0.0113;ExAC_nontcga_AFR=0.0038;ExAC_nontcga_AMR=0.0033;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0132;ExAC_nontcga_NFE=0.0151;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0137;AF=0.0101;AF_popmax=0.0128;AF_male=0.0103;AF_female=0.0098;AF_raw=0.0101;AF_afr=0.0042;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0128;AF_fin=0.0138;AF_asj=0.0382;AF_oth=0.0129;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0124;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0122702;Kaviar_AC=1897;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.386715;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152679594 rs62426382 A G 100 PASS AC=3;AF=0.00459265;AN=214;NS=2504;DP=16190;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.T10543C:p.L3515L,SYNE1:NM_182961:exon66:c.T10522C:p.L3508L;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62426382;CLNALLELEID=135837;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0176;ExAC_nontcga_ALL=0.0100;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0062;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0104;ExAC_nontcga_NFE=0.0160;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0016;AF=0.0092;AF_popmax=0.0132;AF_male=0.0093;AF_female=0.0090;AF_raw=0.0092;AF_afr=0.0015;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0132;AF_fin=0.0109;AF_asj=0.0414;AF_oth=0.0138;non_topmed_AF_popmax=0.0126;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0098;Kaviar_AF=0.0106208;Kaviar_AC=1642;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.388364;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152679729 rs9478326 G A 100 PASS AC=33;AF=0.143371;AN=214;NS=2504;DP=16623;EAS_AF=0.003;AMR_AF=0.0865;AFR_AF=0.3064;EUR_AF=0.163;SAS_AF=0.0879;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.143371;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9478326;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2091;AF_popmax=0.3078;AF_male=0.2103;AF_female=0.2076;AF_raw=0.2093;AF_afr=0.3078;AF_sas=.;AF_amr=0.0816;AF_eas=0.0083;AF_nfe=0.1696;AF_fin=0.2686;AF_asj=0.0690;AF_oth=0.2164;non_topmed_AF_popmax=0.3084;non_neuro_AF_popmax=0.3117;non_cancer_AF_popmax=.;controls_AF_popmax=0.3059;Kaviar_AF=0.027781;Kaviar_AC=4295;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.303013;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|1 0|1 0|1 0|1 0|0 +6 152683278 rs181220837 A G 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19536;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181220837;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0034;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0061;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0031;AF_popmax=0.0050;AF_male=0.0027;AF_female=0.0035;AF_raw=0.0031;AF_afr=0.0009;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0050;AF_fin=0.0023;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0056;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152683413 rs4407724 G T 100 PASS AC=148;AF=0.659145;AN=214;NS=2504;DP=20411;EAS_AF=0.7927;AMR_AF=0.6859;AFR_AF=0.5764;EUR_AF=0.6799;SAS_AF=0.593;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G;1000g2015aug_all=0.659145;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4407724;CLNALLELEID=135835;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6806;ExAC_nontcga_ALL=0.6522;ExAC_nontcga_AFR=0.5797;ExAC_nontcga_AMR=0.6688;ExAC_nontcga_EAS=0.7861;ExAC_nontcga_FIN=0.6039;ExAC_nontcga_NFE=0.6646;ExAC_nontcga_OTH=0.6571;ExAC_nontcga_SAS=0.5951;AF=0.6482;AF_popmax=0.7745;AF_male=0.6488;AF_female=0.6473;AF_raw=0.6477;AF_afr=0.5867;AF_sas=.;AF_amr=0.6690;AF_eas=0.7745;AF_nfe=0.6764;AF_fin=0.6184;AF_asj=0.7379;AF_oth=0.6133;non_topmed_AF_popmax=0.7755;non_neuro_AF_popmax=0.7745;non_cancer_AF_popmax=.;controls_AF_popmax=0.7682;Kaviar_AF=0.652644;Kaviar_AC=100900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.256570;ALLELE_END;VINYL_score=1 GT 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 0|0 1|1 0|1 1|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|1 0|1 1|1 1|0 1|1 0|1 0|1 1|1 0|1 1|1 1|1 1|0 1|1 1|0 0|1 1|0 1|0 0|1 0|1 1|0 1|1 0|1 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|1 1|1 1|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|0 0|1 1|1 0|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 0|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|0 1|1 +6 152686071 rs140861713 A G 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18722;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.T10077C:p.S3359S,SYNE1:NM_182961:exon63:c.T10056C:p.S3352S;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140861713;CLNALLELEID=195497;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0023;AF=0.0036;AF_popmax=0.0054;AF_male=0.0035;AF_female=0.0037;AF_raw=0.0037;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0037;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0046;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546312;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152686090 rs150170988 G T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=19007;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150170988;CLNALLELEID=195496;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.098;SIFT_converted_rankscore=0.308;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.158;Polyphen2_HVAR_pred=B;LRT_score=0.187;LRT_converted_rankscore=0.169;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.472;MutationTaster_pred=D;MutationAssessor_score=0.84;MutationAssessor_score_rankscore=0.212;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.373;PROVEAN_pred=N;VEST3_score=0.114;VEST3_rankscore=0.124;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.149;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.260;M-CAP_pred=T;REVEL_score=0.096;REVEL_rankscore=0.282;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.251;CADD_raw_rankscore=0.332;CADD_phred=17.84;DANN_score=0.845;DANN_rankscore=0.148;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.529;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.370;Eigen-PC-raw=-0.245;GenoCanyon_score=0.123;GenoCanyon_score_rankscore=0.169;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=0.861;GERP++_RS_rankscore=0.181;phyloP100way_vertebrate=3.031;phyloP100way_vertebrate_rankscore=0.492;phyloP20way_mammalian=-0.371;phyloP20way_mammalian_rankscore=0.067;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=4.372;SiPhy_29way_logOdds_rankscore=0.106;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0064;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0023;AF=0.0037;AF_popmax=0.0055;AF_male=0.0036;AF_female=0.0037;AF_raw=0.0037;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0037;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0047;non_neuro_AF_popmax=0.0057;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0043984;Kaviar_AC=680;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.514360;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152688366 rs548283137 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19084;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon62:c.C9980T:p.T3327M,SYNE1:NM_182961:exon62:c.C9959T:p.T3320M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs548283137;CLNALLELEID=269042;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.172;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.262;MutationTaster_pred=N;MutationAssessor_score=-2.42;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.4;FATHMM_converted_rankscore=0.520;FATHMM_pred=T;PROVEAN_score=1.05;PROVEAN_converted_rankscore=0.014;PROVEAN_pred=N;VEST3_score=0.306;VEST3_rankscore=0.371;MetaSVM_score=-1.008;MetaSVM_rankscore=0.276;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.039;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.174;M-CAP_pred=T;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.385;CADD_raw_rankscore=0.131;CADD_phred=6.486;DANN_score=0.083;DANN_rankscore=0.001;fathmm-MKL_coding_score=0.408;fathmm-MKL_coding_rankscore=0.263;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.911;Eigen-PC-raw=-0.600;GenoCanyon_score=0.607;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=3.75;GERP++_RS_rankscore=0.421;phyloP100way_vertebrate=7.131;phyloP100way_vertebrate_rankscore=0.767;phyloP20way_mammalian=-0.161;phyloP20way_mammalian_rankscore=0.107;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=11.193;SiPhy_29way_logOdds_rankscore=0.477;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.179e-05;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.074810;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152688567 rs7775637 C T 100 PASS AC=192;AF=0.863618;AN=214;NS=2504;DP=19102;EAS_AF=0.8542;AMR_AF=0.8112;AFR_AF=0.9728;EUR_AF=0.9284;SAS_AF=0.6963;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.863618;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7775637;CLNALLELEID=252193;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9177;ExAC_nontcga_ALL=0.8680;ExAC_nontcga_AFR=0.9646;ExAC_nontcga_AMR=0.7345;ExAC_nontcga_EAS=0.8521;ExAC_nontcga_FIN=0.9356;ExAC_nontcga_NFE=0.9156;ExAC_nontcga_OTH=0.8847;ExAC_nontcga_SAS=0.7279;AF=0.9314;AF_popmax=0.9656;AF_male=0.9322;AF_female=0.9304;AF_raw=0.9312;AF_afr=0.9656;AF_sas=.;AF_amr=0.7671;AF_eas=0.8580;AF_nfe=0.9301;AF_fin=0.9398;AF_asj=0.8690;AF_oth=0.8989;non_topmed_AF_popmax=0.9657;non_neuro_AF_popmax=0.9660;non_cancer_AF_popmax=.;controls_AF_popmax=0.9638;Kaviar_AF=0.859213;Kaviar_AC=132836;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 1|1 0|0 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +6 152690559 rs1873176 G A 100 PASS AC=103;AF=0.410942;AN=214;NS=2504;DP=18454;EAS_AF=0.4593;AMR_AF=0.5101;AFR_AF=0.2337;EUR_AF=0.5298;SAS_AF=0.408;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.410942;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1873176;CLNALLELEID=252195;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5455;ExAC_nontcga_ALL=0.4774;ExAC_nontcga_AFR=0.2818;ExAC_nontcga_AMR=0.4833;ExAC_nontcga_EAS=0.4366;ExAC_nontcga_FIN=0.4892;ExAC_nontcga_NFE=0.5313;ExAC_nontcga_OTH=0.4782;ExAC_nontcga_SAS=0.4178;AF=0.4565;AF_popmax=0.5392;AF_male=0.4565;AF_female=0.4565;AF_raw=0.4561;AF_afr=0.2849;AF_sas=.;AF_amr=0.4941;AF_eas=0.4584;AF_nfe=0.5392;AF_fin=0.5046;AF_asj=0.5310;AF_oth=0.4493;non_topmed_AF_popmax=0.5308;non_neuro_AF_popmax=0.5386;non_cancer_AF_popmax=.;controls_AF_popmax=0.5100;Kaviar_AF=0.482219;Kaviar_AC=74552;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 +6 152694184 rs6913579 T C 100 PASS AC=103;AF=0.468251;AN=214;NS=2504;DP=17998;EAS_AF=0.4613;AMR_AF=0.536;AFR_AF=0.4365;EUR_AF=0.5308;SAS_AF=0.4059;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E;1000g2015aug_all=0.468251;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6913579;CLNALLELEID=135899;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5458;ExAC_nontcga_ALL=0.4951;ExAC_nontcga_AFR=0.4786;ExAC_nontcga_AMR=0.4918;ExAC_nontcga_EAS=0.4354;ExAC_nontcga_FIN=0.4887;ExAC_nontcga_NFE=0.5315;ExAC_nontcga_OTH=0.4813;ExAC_nontcga_SAS=0.4180;AF=0.5115;AF_popmax=0.5391;AF_male=0.5116;AF_female=0.5113;AF_raw=0.5110;AF_afr=0.4811;AF_sas=.;AF_amr=0.5166;AF_eas=0.4553;AF_nfe=0.5391;AF_fin=0.5026;AF_asj=0.5310;AF_oth=0.4623;non_topmed_AF_popmax=0.5309;non_neuro_AF_popmax=0.5382;non_cancer_AF_popmax=.;controls_AF_popmax=0.5164;Kaviar_AF=0.481533;Kaviar_AC=74446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072521;ALLELE_END;VINYL_score=1 GT 0|1 1|0 1|0 0|0 1|0 0|0 0|1 1|1 1|1 0|1 1|1 0|0 1|1 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 1|1 0|0 0|1 0|0 1|0 0|1 1|1 0|1 1|0 1|0 1|1 0|0 0|1 0|1 1|1 1|0 1|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|1 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|0 1|1 1|0 0|0 1|1 1|0 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 0|1 0|0 1|1 0|0 1|1 1|1 0|0 1|1 0|1 1|0 0|1 0|0 1|0 0|1 1|1 0|1 0|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|1 +6 152694190 rs35379711 T C 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17703;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9510G:p.Q3170Q,SYNE1:NM_182961:exon59:c.A9489G:p.Q3163Q;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35379711;CLNALLELEID=265921;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0015;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0013;AF=0.0011;AF_popmax=0.0015;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0015;AF_fin=0.0003;AF_asj=0.0241;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0014;non_cancer_AF_popmax=.;controls_AF_popmax=0.0020;Kaviar_AF=0.0012613;Kaviar_AC=195;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.072521;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152697675 rs117020413 G T 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=17012;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0119;SAS_AF=0.0215;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon58:c.C9186A:p.S3062S,SYNE1:NM_182961:exon58:c.C9165A:p.S3055S;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117020413;CLNALLELEID=252196;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0121;ExAC_nontcga_ALL=0.0137;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0060;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0135;ExAC_nontcga_NFE=0.0141;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0301;AF=0.0091;AF_popmax=0.0135;AF_male=0.0088;AF_female=0.0095;AF_raw=0.0091;AF_afr=0.0020;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0135;AF_fin=0.0083;AF_asj=0.0172;AF_oth=0.0184;non_topmed_AF_popmax=0.0128;non_neuro_AF_popmax=0.0142;non_cancer_AF_popmax=.;controls_AF_popmax=0.0123;Kaviar_AF=0.0126518;Kaviar_AC=1956;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.456772;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152697706 rs214955 C T 100 PASS AC=111;AF=0.529153;AN=214;NS=2504;DP=16986;EAS_AF=0.5387;AMR_AF=0.4654;AFR_AF=0.5514;EUR_AF=0.4712;SAS_AF=0.5941;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.529153;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214955;CLNALLELEID=252197;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4606;ExAC_nontcga_ALL=0.5144;ExAC_nontcga_AFR=0.5554;ExAC_nontcga_AMR=0.5082;ExAC_nontcga_EAS=0.5620;ExAC_nontcga_FIN=0.5141;ExAC_nontcga_NFE=0.4751;ExAC_nontcga_OTH=0.5275;ExAC_nontcga_SAS=0.6027;AF=0.5004;AF_popmax=0.5442;AF_male=0.5009;AF_female=0.4997;AF_raw=0.4997;AF_afr=0.5442;AF_sas=.;AF_amr=0.4976;AF_eas=0.5432;AF_nfe=0.4688;AF_fin=0.4991;AF_asj=0.4793;AF_oth=0.5470;non_topmed_AF_popmax=0.5439;non_neuro_AF_popmax=0.5432;non_cancer_AF_popmax=.;controls_AF_popmax=0.5351;Kaviar_AF=0.49196;Kaviar_AC=76058;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.825978;ALLELE_END;VINYL_score=1 GT 1|0 0|1 0|1 1|1 0|1 1|1 1|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 0|1 1|1 0|1 0|0 1|1 1|1 0|0 0|0 1|1 1|0 1|1 0|1 1|0 0|0 1|0 0|1 0|1 0|0 1|1 1|0 1|0 0|0 0|1 0|0 1|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|1 0|0 1|1 0|1 1|0 0|0 1|0 0|0 0|0 1|0 1|1 1|1 0|0 1|1 0|0 0|1 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 0|0 1|1 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|1 0|1 1|0 0|0 1|0 1|0 1|0 1|0 1|1 0|0 0|0 1|1 1|1 0|1 1|1 1|0 +6 152702434 rs140568392 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19623;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon56:c.G8737A:p.E2913K,SYNE1:NM_182961:exon56:c.G8716A:p.E2906K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140568392;CLNALLELEID=560489;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.119;SIFT_converted_rankscore=0.280;SIFT_pred=T;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.181;Polyphen2_HVAR_pred=B;LRT_score=0.383;LRT_converted_rankscore=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.87;FATHMM_converted_rankscore=0.464;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.082;VEST3_rankscore=0.388;MetaSVM_score=-1.030;MetaSVM_rankscore=0.205;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.199;M-CAP_pred=T;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.351;CADD_raw_rankscore=0.344;CADD_phred=18.50;DANN_score=0.975;DANN_rankscore=0.338;fathmm-MKL_coding_score=0.074;fathmm-MKL_coding_rankscore=0.133;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.821;Eigen-PC-raw=-0.695;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.26;GERP++_RS_rankscore=0.363;phyloP100way_vertebrate=1.864;phyloP100way_vertebrate_rankscore=0.389;phyloP20way_mammalian=0.065;phyloP20way_mammalian_rankscore=0.171;phastCons100way_vertebrate=0.272;phastCons100way_vertebrate_rankscore=0.248;phastCons20way_mammalian=0.938;phastCons20way_mammalian_rankscore=0.411;SiPhy_29way_logOdds=8.760;SiPhy_29way_logOdds_rankscore=0.336;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.886e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.686e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.552e-05;AF_popmax=0.0002;AF_male=5.721e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000205414|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0004591|hsa-miR-124-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1792781|N/A|RBL2|PAZAR,OREG1798830|N/A|RBL2|PAZAR,OREG1852140|N/A|RB1|PAZAR,OREG1780031|N/A|RBL2|PAZAR,OREG1814453|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.610273;ALLELE_END;VINYL_score=9.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152708310 rs214950 G A 100 PASS AC=62;AF=0.249002;AN=214;NS=2504;DP=16439;EAS_AF=0.4018;AMR_AF=0.1614;AFR_AF=0.152;EUR_AF=0.2167;SAS_AF=0.318;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8405T:p.A2802V,SYNE1:NM_182961:exon54:c.C8384T:p.A2795V;1000g2015aug_all=0.249002;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214950;CLNALLELEID=135898;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.028;SIFT_converted_rankscore=0.461;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.238;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_converted_rankscore=0.270;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=1.27;FATHMM_converted_rankscore=0.361;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.035;VEST3_rankscore=0.026;MetaSVM_score=-1.029;MetaSVM_rankscore=0.207;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_rankscore=0.071;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.104;REVEL_rankscore=0.301;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.486;CADD_raw_rankscore=0.141;CADD_phred=7.324;DANN_score=0.310;DANN_rankscore=0.017;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_rankscore=0.396;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.872;Eigen-PC-raw=-0.803;GenoCanyon_score=0.235;GenoCanyon_score_rankscore=0.185;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.51;GERP++_RS_rankscore=0.220;phyloP100way_vertebrate=4.575;phyloP100way_vertebrate_rankscore=0.604;phyloP20way_mammalian=-0.274;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.148;SiPhy_29way_logOdds_rankscore=0.035;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2190;ExAC_nontcga_ALL=0.2396;ExAC_nontcga_AFR=0.1484;ExAC_nontcga_AMR=0.1862;ExAC_nontcga_EAS=0.4193;ExAC_nontcga_FIN=0.1915;ExAC_nontcga_NFE=0.2236;ExAC_nontcga_OTH=0.2680;ExAC_nontcga_SAS=0.3116;AF=0.2067;AF_popmax=0.4425;AF_male=0.2077;AF_female=0.2055;AF_raw=0.2066;AF_afr=0.1559;AF_sas=.;AF_amr=0.1986;AF_eas=0.4425;AF_nfe=0.2150;AF_fin=0.1836;AF_asj=0.2569;AF_oth=0.2274;non_topmed_AF_popmax=0.4444;non_neuro_AF_popmax=0.4425;non_cancer_AF_popmax=.;controls_AF_popmax=0.4243;Kaviar_AF=0.232397;Kaviar_AC=35929;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.966637;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152708366 rs140234214 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16968;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8349G:p.L2783L,SYNE1:NM_182961:exon54:c.C8328G:p.L2776L;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140234214;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.883e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.68e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.010708;ALLELE_END;VINYL_score=5 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152708472 rs181218387 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20463;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.G8243A:p.R2748K,SYNE1:NM_182961:exon54:c.G8222A:p.R2741K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181218387;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.819;SIFT_converted_rankscore=0.143;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.138;LRT_converted_rankscore=0.184;LRT_pred=N;MutationTaster_score=0.872;MutationTaster_converted_rankscore=0.282;MutationTaster_pred=N;MutationAssessor_score=0.515;MutationAssessor_score_rankscore=0.136;MutationAssessor_pred=N;FATHMM_score=1.41;FATHMM_converted_rankscore=0.334;FATHMM_pred=T;PROVEAN_score=-0.06;PROVEAN_converted_rankscore=0.079;PROVEAN_pred=N;VEST3_score=0.103;VEST3_rankscore=0.134;MetaSVM_score=-0.971;MetaSVM_rankscore=0.370;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.056;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.113;M-CAP_pred=T;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.040;CADD_raw_rankscore=0.194;CADD_phred=10.89;DANN_score=0.908;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_rankscore=0.521;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.702;Eigen-PC-raw=-0.556;GenoCanyon_score=0.803;GenoCanyon_score_rankscore=0.242;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.14;GERP++_RS_rankscore=0.197;phyloP100way_vertebrate=1.243;phyloP100way_vertebrate_rankscore=0.322;phyloP20way_mammalian=0.077;phyloP20way_mammalian_rankscore=0.185;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.875;phastCons20way_mammalian_rankscore=0.366;SiPhy_29way_logOdds=10.379;SiPhy_29way_logOdds_rankscore=0.431;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.538e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.829875;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152711395 rs214943 T A 100 PASS AC=91;AF=0.561901;AN=214;NS=2504;DP=19076;EAS_AF=0.749;AMR_AF=0.3228;AFR_AF=0.733;EUR_AF=0.3887;SAS_AF=0.4857;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.561901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214943;CLNALLELEID=252198;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3801;ExAC_nontcga_ALL=0.4465;ExAC_nontcga_AFR=0.6952;ExAC_nontcga_AMR=0.2921;ExAC_nontcga_EAS=0.7664;ExAC_nontcga_FIN=0.3952;ExAC_nontcga_NFE=0.3865;ExAC_nontcga_OTH=0.4740;ExAC_nontcga_SAS=0.4791;AF=0.4884;AF_popmax=0.7864;AF_male=0.4954;AF_female=0.4796;AF_raw=0.4882;AF_afr=0.6951;AF_sas=.;AF_amr=0.3262;AF_eas=0.7864;AF_nfe=0.3805;AF_fin=0.3834;AF_asj=0.4414;AF_oth=0.4077;non_topmed_AF_popmax=0.7902;non_neuro_AF_popmax=0.7864;non_cancer_AF_popmax=.;controls_AF_popmax=0.7862;Kaviar_AF=0.432394;Kaviar_AC=66849;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.943011;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152711422 rs547324404 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19131;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.G8191A:p.A2731T,SYNE1:NM_182961:exon53:c.G8170A:p.A2724T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547324404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.206;SIFT_converted_rankscore=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.549;Polyphen2_HVAR_rankscore=0.474;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.361;LRT_pred=N;MutationTaster_score=0.989;MutationTaster_converted_rankscore=0.298;MutationTaster_pred=N;MutationAssessor_score=2.3;MutationAssessor_score_rankscore=0.659;MutationAssessor_pred=M;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=-1.11;PROVEAN_converted_rankscore=0.287;PROVEAN_pred=N;VEST3_score=0.278;VEST3_rankscore=0.336;MetaSVM_score=-1.106;MetaSVM_rankscore=0.034;MetaSVM_pred=T;MetaLR_score=0.055;MetaLR_rankscore=0.233;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.260;M-CAP_pred=T;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=0.373;MutPred_rankscore=0.386;CADD_raw=4.088;CADD_raw_rankscore=0.549;CADD_phred=23.7;DANN_score=0.919;DANN_rankscore=0.206;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_rankscore=0.681;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.079;Eigen-PC-raw=0.233;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=6.17;GERP++_RS_rankscore=0.997;phyloP100way_vertebrate=4.222;phyloP100way_vertebrate_rankscore=0.581;phyloP20way_mammalian=0.066;phyloP20way_mammalian_rankscore=0.173;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.066;phastCons20way_mammalian_rankscore=0.174;SiPhy_29way_logOdds=13.687;SiPhy_29way_logOdds_rankscore=0.618;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.427e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.168299;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +6 152711428 rs151091241 C T 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=19105;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.008;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151091241;CLNALLELEID=195116;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.533;SIFT_converted_rankscore=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.407;LRT_converted_rankscore=0.046;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_converted_rankscore=0.344;FATHMM_pred=T;PROVEAN_score=0.09;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.054;VEST3_rankscore=0.069;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.098;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.039;REVEL_rankscore=0.105;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.289;CADD_raw_rankscore=0.069;CADD_phred=0.703;DANN_score=0.690;DANN_rankscore=0.086;fathmm-MKL_coding_score=0.019;fathmm-MKL_coding_rankscore=0.057;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.589;Eigen-PC-raw=-1.710;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-12.3;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=-0.705;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-3.379;phyloP20way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.002;phastCons20way_mammalian_rankscore=0.062;SiPhy_29way_logOdds=7.246;SiPhy_29way_logOdds_rankscore=0.251;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0098;ExAC_nontcga_ALL=0.0063;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0111;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0035;AF=0.0081;AF_popmax=0.0111;AF_male=0.0076;AF_female=0.0088;AF_raw=0.0081;AF_afr=0.0024;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0111;AF_fin=0.0132;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0112;non_cancer_AF_popmax=.;controls_AF_popmax=0.0140;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.168299;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712440 rs117480635 G T 100 PASS AC=3;AF=0.00159744;AN=214;NS=2504;DP=15514;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon52:c.C7997A:p.T2666N,SYNE1:NM_182961:exon52:c.C7976A:p.T2659N;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117480635;CLNALLELEID=195101;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.238;SIFT_converted_rankscore=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.612;Polyphen2_HDIV_rankscore=0.396;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.203;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_converted_rankscore=0.252;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=0.67;FATHMM_converted_rankscore=0.522;FATHMM_pred=T;PROVEAN_score=-1.89;PROVEAN_converted_rankscore=0.441;PROVEAN_pred=N;VEST3_score=0.056;VEST3_rankscore=0.039;MetaSVM_score=-1.032;MetaSVM_rankscore=0.199;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_rankscore=0.318;MetaLR_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.283;M-CAP_pred=T;REVEL_score=0.108;REVEL_rankscore=0.311;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.895;CADD_raw_rankscore=0.179;CADD_phred=10.05;DANN_score=0.826;DANN_rankscore=0.138;fathmm-MKL_coding_score=0.856;fathmm-MKL_coding_rankscore=0.444;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.070;Eigen-PC-raw=-0.040;GenoCanyon_score=0.946;GenoCanyon_score_rankscore=0.277;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.04;GERP++_RS_rankscore=0.672;phyloP100way_vertebrate=3.183;phyloP100way_vertebrate_rankscore=0.504;phyloP20way_mammalian=1.045;phyloP20way_mammalian_rankscore=0.669;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.032;phastCons20way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=11.596;SiPhy_29way_logOdds_rankscore=0.500;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0023;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=0.0017;AF_popmax=0.0031;AF_male=0.0017;AF_female=0.0016;AF_raw=0.0017;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0027;Kaviar_AF=0.0025549;Kaviar_AC=395;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.262168;ALLELE_END;VINYL_score=8.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 +6 152712714 rs201131946 G A 100 PASS AC=32;AF=0.169728;AN=214;NS=2504;DP=17382;EAS_AF=0.3175;AMR_AF=0.1124;AFR_AF=0.1112;EUR_AF=0.1461;SAS_AF=0.1616;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201131946;CLNALLELEID=306728;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0033;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0058;ExAC_nontcga_FIN=0.0027;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0034;AF=0.0006;AF_popmax=0.0082;AF_male=0.0004;AF_female=0.0009;AF_raw=0.0008;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0082;AF_nfe=0.0007;AF_fin=0.0011;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0125;Kaviar_AF=0.0057697;Kaviar_AC=892;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.786451;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712715 rs550804556 G A 100 PASS AC=32;AF=0.169728;AN=214;NS=2504;DP=16886;EAS_AF=0.3175;AMR_AF=0.1124;AFR_AF=0.1112;EUR_AF=0.1461;SAS_AF=0.1616;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.169728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550804556;CLNALLELEID=299475;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0057891;Kaviar_AC=895;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.786451;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152712730 rs370201028 G A 100 PASS AC=70;AF=0.406949;AN=214;NS=2504;DP=17704;EAS_AF=0.4573;AMR_AF=0.2997;AFR_AF=0.5182;EUR_AF=0.3111;SAS_AF=0.3793;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.406949;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370201028;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0743;ExAC_nontcga_AMR=0.0078;ExAC_nontcga_EAS=0.0049;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0218;AF=0.0279;AF_popmax=0.0543;AF_male=0.0297;AF_female=0.0255;AF_raw=0.0345;AF_afr=0.0543;AF_sas=.;AF_amr=0.0133;AF_eas=0.0021;AF_nfe=0.0174;AF_fin=0.0168;AF_asj=0.0385;AF_oth=0.0216;non_topmed_AF_popmax=0.0546;non_neuro_AF_popmax=0.0487;non_cancer_AF_popmax=.;controls_AF_popmax=0.0528;Kaviar_AF=0.0150192;Kaviar_AC=2322;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|1 0|1 0|1 0|1 0|0 0|1 1|0 0|1 0|1 0|1 0|1 0|1 0|0 0|1 0|1 1|0 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 0|1 1|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 +6 152712752 rs214944 C T 100 PASS AC=91;AF=0.558706;AN=214;NS=2504;DP=15242;EAS_AF=0.749;AMR_AF=0.3228;AFR_AF=0.7209;EUR_AF=0.3887;SAS_AF=0.4857;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.558706;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214944;CLNALLELEID=252199;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2696;ExAC_nontcga_ALL=0.3292;ExAC_nontcga_AFR=0.5924;ExAC_nontcga_AMR=0.1977;ExAC_nontcga_EAS=0.5356;ExAC_nontcga_FIN=0.1988;ExAC_nontcga_NFE=0.2410;ExAC_nontcga_OTH=0.3795;ExAC_nontcga_SAS=0.4252;AF=0.4808;AF_popmax=0.7829;AF_male=0.4880;AF_female=0.4717;AF_raw=0.4839;AF_afr=0.6830;AF_sas=.;AF_amr=0.3232;AF_eas=0.7829;AF_nfe=0.3754;AF_fin=0.3723;AF_asj=0.4366;AF_oth=0.3965;non_topmed_AF_popmax=0.7868;non_neuro_AF_popmax=0.7829;non_cancer_AF_popmax=.;controls_AF_popmax=0.7830;Kaviar_AF=0.263897;Kaviar_AC=40799;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.937609;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152717896 rs78034368 T C 100 PASS AC=8;AF=0.014377;AN=214;NS=2504;DP=18389;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0239;SAS_AF=0.0358;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.014377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78034368;CLNALLELEID=306736;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0336;ExAC_nontcga_ALL=0.0271;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0191;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0206;ExAC_nontcga_NFE=0.0360;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0298;AF=0.0228;AF_popmax=0.0338;AF_male=0.0227;AF_female=0.0228;AF_raw=0.0228;AF_afr=0.0080;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0338;AF_fin=0.0204;AF_asj=0.0241;AF_oth=0.0285;non_topmed_AF_popmax=0.0341;non_neuro_AF_popmax=0.0345;non_cancer_AF_popmax=.;controls_AF_popmax=0.0344;Kaviar_AF=0.0276452;Kaviar_AC=4274;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.136500;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +6 152718008 rs139070088 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19921;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon50:c.A7479G:p.Q2493Q,SYNE1:NM_182961:exon50:c.A7458G:p.Q2486Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139070088;CLNALLELEID=267913;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0006;AF_male=0.0004;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.451756;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152719792 rs199792324 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15567;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon49:c.G7333T:p.D2445Y,SYNE1:NM_182961:exon49:c.G7312T:p.D2438Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199792324;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.858;Polyphen2_HVAR_rankscore=0.593;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.83;MutationAssessor_score_rankscore=0.826;MutationAssessor_pred=M;FATHMM_score=0.17;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=-4.24;PROVEAN_converted_rankscore=0.760;PROVEAN_pred=D;VEST3_score=0.831;VEST3_rankscore=0.819;MetaSVM_score=-0.432;MetaSVM_rankscore=0.710;MetaSVM_pred=T;MetaLR_score=0.294;MetaLR_rankscore=0.666;MetaLR_pred=T;M-CAP_score=0.044;M-CAP_rankscore=0.614;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.234;CADD_raw_rankscore=0.861;CADD_phred=28.8;DANN_score=0.980;DANN_rankscore=0.373;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.897;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.571;Eigen-PC-raw=0.556;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.02;GERP++_RS_rankscore=0.666;phyloP100way_vertebrate=5.135;phyloP100way_vertebrate_rankscore=0.644;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.677;phastCons20way_mammalian_rankscore=0.304;SiPhy_29way_logOdds=18.706;SiPhy_29way_logOdds_rankscore=0.916;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.884e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.681e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.358161;ALLELE_END;VINYL_score=8 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152722228 rs177330 A G 100 PASS AC=91;AF=0.519768;AN=214;NS=2504;DP=18737;EAS_AF=0.749;AMR_AF=0.3156;AFR_AF=0.5779;EUR_AF=0.3887;SAS_AF=0.4847;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519768;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs177330;CLNALLELEID=252201;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3803;ExAC_nontcga_ALL=0.4358;ExAC_nontcga_AFR=0.5629;ExAC_nontcga_AMR=0.2887;ExAC_nontcga_EAS=0.7650;ExAC_nontcga_FIN=0.3961;ExAC_nontcga_NFE=0.3878;ExAC_nontcga_OTH=0.4620;ExAC_nontcga_SAS=0.4806;AF=0.4519;AF_popmax=0.7871;AF_male=0.4569;AF_female=0.4457;AF_raw=0.4519;AF_afr=0.5671;AF_sas=.;AF_amr=0.3144;AF_eas=0.7871;AF_nfe=0.3804;AF_fin=0.3831;AF_asj=0.4414;AF_oth=0.3969;non_topmed_AF_popmax=0.7900;non_neuro_AF_popmax=0.7871;non_cancer_AF_popmax=.;controls_AF_popmax=0.7857;Kaviar_AF=0.41601;Kaviar_AC=64316;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 0|1 1|0 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152725470 rs146380883 TAACTA T 100 PASS AC=1;AF=0.071885;AN=214;NS=2504;DP=15909;EAS_AF=0.1954;AMR_AF=0.0288;AFR_AF=0.0015;EUR_AF=0.005;SAS_AF=0.1391;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146380883;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0035;ExAC_nontcga_ALL=0.0459;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0831;ExAC_nontcga_EAS=0.2196;ExAC_nontcga_FIN=0.0371;ExAC_nontcga_NFE=0.0072;ExAC_nontcga_OTH=0.0346;ExAC_nontcga_SAS=0.0937;AF=0.0208;AF_popmax=0.2112;AF_male=0.0216;AF_female=0.0199;AF_raw=0.0211;AF_afr=0.0020;AF_sas=.;AF_amr=0.0760;AF_eas=0.2112;AF_nfe=0.0067;AF_fin=0.0321;AF_asj=0.0207;AF_oth=0.0222;non_topmed_AF_popmax=0.2119;non_neuro_AF_popmax=0.2112;non_cancer_AF_popmax=.;controls_AF_popmax=0.1941;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.360903;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152728281 rs190301879 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13904;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon45:c.C6612T:p.S2204S,SYNE1:NM_182961:exon45:c.C6591T:p.S2197S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190301879;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.77e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.929e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.523e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.110740;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152730221 rs202207841 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17166;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon44:c.C6543T:p.T2181T,SYNE1:NM_182961:exon44:c.C6522T:p.T2174T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202207841;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=3.767e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302069;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152730736 rs141671123 A G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18037;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon43:c.T6360C:p.T2120T,SYNE1:NM_182961:exon43:c.T6339C:p.T2113T;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141671123;CLNALLELEID=267342;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0010;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0017;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.015202;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152737559 rs200119679 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17029;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SYNE1:NM_033071:exon41:c.C6034T:p.R2012X,SYNE1:NM_182961:exon41:c.C6013T:p.R2005X;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200119679;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.230;LRT_converted_rankscore=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.182;CADD_raw_rankscore=0.945;CADD_phred=34;DANN_score=0.972;DANN_rankscore=0.324;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.215;Eigen-PC-raw=-0.565;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.058;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-2.23;GERP++_RS_rankscore=0.065;phyloP100way_vertebrate=0.712;phyloP100way_vertebrate_rankscore=0.253;phyloP20way_mammalian=-0.343;phyloP20way_mammalian_rankscore=0.071;phastCons100way_vertebrate=0.125;phastCons100way_vertebrate_rankscore=0.230;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=5.358;SiPhy_29way_logOdds_rankscore=0.153;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.882234;ALLELE_END;VINYL_score=13 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152740681 rs34651734 T TA 100 PASS AC=52;AF=0.35024;AN=214;NS=2504;DP=16745;EAS_AF=0.4038;AMR_AF=0.2233;AFR_AF=0.4796;EUR_AF=0.2674;SAS_AF=0.2955;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.35024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397808272;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2008;ExAC_nontcga_ALL=0.3640;ExAC_nontcga_AFR=0.4722;ExAC_nontcga_AMR=0.2822;ExAC_nontcga_EAS=0.4298;ExAC_nontcga_FIN=0.3141;ExAC_nontcga_NFE=0.3375;ExAC_nontcga_OTH=0.3451;ExAC_nontcga_SAS=0.4021;AF=0.3212;AF_popmax=0.5015;AF_male=0.3271;AF_female=0.3137;AF_raw=0.2879;AF_afr=0.5015;AF_sas=.;AF_amr=0.1785;AF_eas=0.3709;AF_nfe=0.2129;AF_fin=0.3442;AF_asj=0.2419;AF_oth=0.25;non_topmed_AF_popmax=0.5014;non_neuro_AF_popmax=0.4956;non_cancer_AF_popmax=.;controls_AF_popmax=0.4915;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.331563;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 0|1 0|0 0|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 1|0 1|0 0|0 1|0 1|0 1|0 1|0 0|1 0|1 0|1 1|0 0|0 1|0 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152746593 rs111250109 A T 100 PASS AC=20;AF=0.0327476;AN=214;NS=2504;DP=18407;EAS_AF=0.005;AMR_AF=0.0288;AFR_AF=0.0287;EUR_AF=0.0577;SAS_AF=0.044;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon39:c.T5211A:p.D1737E,SYNE1:NM_182961:exon39:c.T5190A:p.D1730E;1000g2015aug_all=0.0327476;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111250109;CLNALLELEID=135892;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.737;SIFT_converted_rankscore=0.041;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_converted_rankscore=0.238;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.217;MutationTaster_pred=N;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_converted_rankscore=0.307;FATHMM_pred=T;PROVEAN_score=-0.19;PROVEAN_converted_rankscore=0.100;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.003;MetaSVM_score=-0.974;MetaSVM_rankscore=0.365;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_rankscore=0.024;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.505;CADD_raw_rankscore=0.055;CADD_phred=0.213;DANN_score=0.807;DANN_rankscore=0.129;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.085;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.468;Eigen-PC-raw=-1.394;GenoCanyon_score=0.021;GenoCanyon_score_rankscore=0.134;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=-6.32;GERP++_RS_rankscore=0.018;phyloP100way_vertebrate=-2.224;phyloP100way_vertebrate_rankscore=0.013;phyloP20way_mammalian=-0.237;phyloP20way_mammalian_rankscore=0.093;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=5.605;SiPhy_29way_logOdds_rankscore=0.165;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0516;ExAC_nontcga_ALL=0.0430;ExAC_nontcga_AFR=0.0364;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0009;ExAC_nontcga_FIN=0.0496;ExAC_nontcga_NFE=0.0546;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0385;AF=0.0482;AF_popmax=0.0619;AF_male=0.0469;AF_female=0.0498;AF_raw=0.0484;AF_afr=0.0331;AF_sas=.;AF_amr=0.0259;AF_eas=0.0019;AF_nfe=0.0619;AF_fin=0.0492;AF_asj=0.0759;AF_oth=0.0487;non_topmed_AF_popmax=0.0685;non_neuro_AF_popmax=0.0628;non_cancer_AF_popmax=.;controls_AF_popmax=0.0832;Kaviar_AF=0.0433436;Kaviar_AC=6701;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.236413;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152749373 rs199797561 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19356;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.C4964T:p.T1655M,SYNE1:NM_182961:exon37:c.C4943T:p.T1648M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199797561;CLNALLELEID=267920;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.12;SIFT_converted_rankscore=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_rankscore=0.260;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.964;LRT_converted_rankscore=0.082;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.81;MutationAssessor_score_rankscore=0.209;MutationAssessor_pred=L;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.564;PROVEAN_pred=N;VEST3_score=0.086;VEST3_rankscore=0.081;MetaSVM_score=-1.020;MetaSVM_rankscore=0.236;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_rankscore=0.111;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.328;M-CAP_pred=T;REVEL_score=0.049;REVEL_rankscore=0.140;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.031;CADD_raw_rankscore=0.193;CADD_phred=10.84;DANN_score=0.767;DANN_rankscore=0.112;fathmm-MKL_coding_score=0.048;fathmm-MKL_coding_rankscore=0.105;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.928;Eigen-PC-raw=-0.941;GenoCanyon_score=0.948;GenoCanyon_score_rankscore=0.278;integrated_fitCons_score=0.556;integrated_fitCons_score_rankscore=0.300;integrated_confidence_value=0;GERP++_RS=-0.836;GERP++_RS_rankscore=0.102;phyloP100way_vertebrate=-0.474;phyloP100way_vertebrate_rankscore=0.066;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.393;phastCons20way_mammalian_rankscore=0.253;SiPhy_29way_logOdds=2.236;SiPhy_29way_logOdds_rankscore=0.037;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=1.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.097e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.579704;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152749380 rs547680915 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19347;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.A4957C:p.R1653R,SYNE1:NM_182961:exon37:c.A4936C:p.R1646R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs547680915;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.421e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.579704;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152749494 rs138617999 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17304;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon37:c.G4843A:p.A1615T,SYNE1:NM_182961:exon37:c.G4822A:p.A1608T;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138617999;CLNALLELEID=194179;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.704;SIFT_converted_rankscore=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.562;LRT_converted_rankscore=0.113;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-1.52;MutationAssessor_score_rankscore=0.005;MutationAssessor_pred=N;FATHMM_score=0.77;FATHMM_converted_rankscore=0.496;FATHMM_pred=T;PROVEAN_score=0.38;PROVEAN_converted_rankscore=0.036;PROVEAN_pred=N;VEST3_score=0.039;VEST3_rankscore=0.026;MetaSVM_score=-0.975;MetaSVM_rankscore=0.362;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.027;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.206;M-CAP_pred=T;REVEL_score=0.021;REVEL_rankscore=0.042;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.742;CADD_raw_rankscore=0.043;CADD_phred=0.058;DANN_score=0.504;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.037;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.691;Eigen-PC-raw=-1.595;GenoCanyon_score=0.927;GenoCanyon_score_rankscore=0.269;integrated_fitCons_score=0.556;integrated_fitCons_score_rankscore=0.300;integrated_confidence_value=0;GERP++_RS=-1.26;GERP++_RS_rankscore=0.088;phyloP100way_vertebrate=0.319;phyloP100way_vertebrate_rankscore=0.191;phyloP20way_mammalian=-0.273;phyloP20way_mammalian_rankscore=0.086;phastCons100way_vertebrate=0.212;phastCons100way_vertebrate_rankscore=0.242;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=1.099;SiPhy_29way_logOdds_rankscore=0.016;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=8.927e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.734166;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152749540 rs142900784 C T 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=17591;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.007;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142900784;CLNALLELEID=274077;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0052;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0109;ExAC_nontcga_NFE=0.0078;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0013;AF=0.0070;AF_popmax=0.0095;AF_male=0.0066;AF_female=0.0075;AF_raw=0.0070;AF_afr=0.0015;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0130;AF_asj=0.0172;AF_oth=0.0083;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0129;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.816710;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751286 rs201761581 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15785;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon36:c.T4770A:p.S1590S,SYNE1:NM_182961:exon36:c.T4749A:p.S1583S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201761581;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.425e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979088;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751300 rs138691290 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16003;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon36:c.A4756G:p.I1586V,SYNE1:NM_182961:exon36:c.A4735G:p.I1579V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138691290;CLNALLELEID=560491;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.454;SIFT_converted_rankscore=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.119;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.212;MutationTaster_pred=N;MutationAssessor_score=0.12;MutationAssessor_score_rankscore=0.086;MutationAssessor_pred=N;FATHMM_score=0.75;FATHMM_converted_rankscore=0.502;FATHMM_pred=T;PROVEAN_score=-0.32;PROVEAN_converted_rankscore=0.123;PROVEAN_pred=N;VEST3_score=0.027;VEST3_rankscore=0.034;MetaSVM_score=-0.991;MetaSVM_rankscore=0.323;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.075;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.125;M-CAP_pred=T;REVEL_score=0.046;REVEL_rankscore=0.130;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.241;CADD_raw_rankscore=0.117;CADD_phred=5.105;DANN_score=0.874;DANN_rankscore=0.167;fathmm-MKL_coding_score=0.360;fathmm-MKL_coding_rankscore=0.252;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.702;Eigen-PC-raw=-0.490;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.054;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=1.52;GERP++_RS_rankscore=0.221;phyloP100way_vertebrate=0.190;phyloP100way_vertebrate_rankscore=0.167;phyloP20way_mammalian=0.141;phyloP20way_mammalian_rankscore=0.225;phastCons100way_vertebrate=0.112;phastCons100way_vertebrate_rankscore=0.228;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=8.574;SiPhy_29way_logOdds_rankscore=0.326;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.489e-05;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.489e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.032e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.967288;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751367 rs370905828 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16021;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370905828;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0016;ExAC_nontcga_NFE=0.0021;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0022;AF_popmax=0.0042;AF_male=0.0019;AF_female=0.0026;AF_raw=0.0022;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0042;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0051;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.327224;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152751398 rs377417141;rs373546290 CA C 100 PASS AC=5;AF=0.028754;AN=214;NS=2504;DP=16500;EAS_AF=0.0089;AMR_AF=0.0893;AFR_AF=0.0113;EUR_AF=0.0328;SAS_AF=0.0256;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373546290;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0266;AF_popmax=0.0891;AF_male=0.0252;AF_female=0.0284;AF_raw=0.0255;AF_afr=0.0072;AF_sas=.;AF_amr=0.0891;AF_eas=0;AF_nfe=0.0299;AF_fin=0.0757;AF_asj=0.0231;AF_oth=0.0318;non_topmed_AF_popmax=0.0926;non_neuro_AF_popmax=0.0683;non_cancer_AF_popmax=.;controls_AF_popmax=0.0765;Kaviar_AF=0.0016429;Kaviar_AC=254;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.496761;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +6 152751426 rs554608 A C 100 PASS AC=60;AF=0.252196;AN=214;NS=2504;DP=17132;EAS_AF=0.376;AMR_AF=0.1599;AFR_AF=0.1823;EUR_AF=0.2097;SAS_AF=0.3282;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.252196;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554608;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2084;AF_popmax=0.3911;AF_male=0.2102;AF_female=0.2061;AF_raw=0.2087;AF_afr=0.1786;AF_sas=.;AF_amr=0.1960;AF_eas=0.3911;AF_nfe=0.2179;AF_fin=0.1548;AF_asj=0.2517;AF_oth=0.2201;non_topmed_AF_popmax=0.3930;non_neuro_AF_popmax=0.3911;non_cancer_AF_popmax=.;controls_AF_popmax=0.3637;Kaviar_AF=0.0439322;Kaviar_AC=6792;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152751558 rs553642 C T 100 PASS AC=102;AF=0.595847;AN=214;NS=2504;DP=20221;EAS_AF=0.745;AMR_AF=0.3444;AFR_AF=0.7988;EUR_AF=0.4175;SAS_AF=0.5297;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.595847;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553642;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5174;AF_popmax=0.7671;AF_male=0.5259;AF_female=0.5067;AF_raw=0.5170;AF_afr=0.7487;AF_sas=.;AF_amr=0.3369;AF_eas=0.7671;AF_nfe=0.4123;AF_fin=0.3686;AF_asj=0.4655;AF_oth=0.4245;non_topmed_AF_popmax=0.7704;non_neuro_AF_popmax=0.7671;non_cancer_AF_popmax=.;controls_AF_popmax=0.7604;Kaviar_AF=0.0859303;Kaviar_AC=13285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|0 0|0 1|0 0|1 0|1 0|1 1|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 1|0 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 1|0 0|0 0|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152757122 rs201084623 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16415;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon33:c.T4285A:p.S1429T,SYNE1:NM_182961:exon33:c.T4264A:p.S1422T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201084623;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.557;Polyphen2_HVAR_rankscore=0.589;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_converted_rankscore=0.332;LRT_pred=N;MutationTaster_score=0.545;MutationTaster_converted_rankscore=0.343;MutationTaster_pred=D;MutationAssessor_score=2.42;MutationAssessor_score_rankscore=0.702;MutationAssessor_pred=M;FATHMM_score=1.32;FATHMM_converted_rankscore=0.893;FATHMM_pred=T;PROVEAN_score=-1.44;PROVEAN_converted_rankscore=0.360;PROVEAN_pred=N;VEST3_score=0.116;VEST3_rankscore=0.127;MetaSVM_score=0.063;MetaSVM_rankscore=0.835;MetaSVM_pred=D;MetaLR_score=0.532;MetaLR_rankscore=0.827;MetaLR_pred=D;M-CAP_score=0.082;M-CAP_rankscore=0.739;M-CAP_pred=D;REVEL_score=0.171;REVEL_rankscore=0.440;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.694;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.995;DANN_rankscore=0.666;fathmm-MKL_coding_score=0.843;fathmm-MKL_coding_rankscore=0.431;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.144;Eigen-PC-raw=0.149;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.104;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=3.62;GERP++_RS_rankscore=0.405;phyloP100way_vertebrate=2.604;phyloP100way_vertebrate_rankscore=0.457;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.997;phastCons100way_vertebrate_rankscore=0.399;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=8.397;SiPhy_29way_logOdds_rankscore=0.315;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.615424;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152757224 rs34028822 G A 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=16854;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon33:c.C4183T:p.R1395W,SYNE1:NM_182961:exon33:c.C4162T:p.R1388W;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34028822;CLNALLELEID=265543;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.002;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.857;Polyphen2_HVAR_rankscore=0.672;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.355;LRT_pred=N;MutationTaster_score=0.692;MutationTaster_converted_rankscore=0.362;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=0.6;FATHMM_converted_rankscore=0.881;FATHMM_pred=T;PROVEAN_score=-2.46;PROVEAN_converted_rankscore=0.742;PROVEAN_pred=N;VEST3_score=0.55;VEST3_rankscore=0.641;MetaSVM_score=0.464;MetaSVM_rankscore=0.900;MetaSVM_pred=D;MetaLR_score=0.685;MetaLR_rankscore=0.891;MetaLR_pred=D;M-CAP_score=0.226;M-CAP_rankscore=0.881;M-CAP_pred=D;REVEL_score=0.365;REVEL_rankscore=0.688;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.572;CADD_raw_rankscore=0.904;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.989;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.747;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.349;Eigen-PC-raw=0.327;GenoCanyon_score=0.067;GenoCanyon_score_rankscore=0.154;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.04;GERP++_RS_rankscore=0.461;phyloP100way_vertebrate=2.796;phyloP100way_vertebrate_rankscore=0.473;phyloP20way_mammalian=0.045;phyloP20way_mammalian_rankscore=0.158;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=14.809;SiPhy_29way_logOdds_rankscore=0.695;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0057;ExAC_nontcga_ALL=0.0028;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0041;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0027;AF=0.0025;AF_popmax=0.0041;AF_male=0.0026;AF_female=0.0023;AF_raw=0.0025;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0041;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0030401;Kaviar_AC=470;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.698299;ALLELE_END;VINYL_score=13 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152763191 rs202076757 C T 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=15957;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0015;EUR_AF=0.003;SAS_AF=0.0051;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202076757;CLNALLELEID=368471;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0015;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.255133;ALLELE_END;VINYL_score=3 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152763258 rs138705766 T C 100 PASS AC=8;AF=0.0127796;AN=214;NS=2504;DP=16360;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0.0106;EUR_AF=0.0209;SAS_AF=0.0174;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon31:c.A3981G:p.T1327T,SYNE1:NM_182961:exon31:c.A3960G:p.T1320T;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138705766;CLNALLELEID=135890;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0184;ExAC_nontcga_ALL=0.0191;ExAC_nontcga_AFR=0.0111;ExAC_nontcga_AMR=0.0114;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0307;ExAC_nontcga_NFE=0.0227;ExAC_nontcga_OTH=0.0259;ExAC_nontcga_SAS=0.0213;AF=0.0213;AF_popmax=0.0274;AF_male=0.0197;AF_female=0.0233;AF_raw=0.0214;AF_afr=0.0098;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0274;AF_fin=0.0325;AF_asj=0.0521;AF_oth=0.0231;non_topmed_AF_popmax=0.0321;non_neuro_AF_popmax=0.0278;non_cancer_AF_popmax=.;controls_AF_popmax=0.0447;Kaviar_AF=0.0181304;Kaviar_AC=2803;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.355319;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152763413 rs200800714 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17870;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200800714;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.452e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.660919;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152765579 rs139524103 C T 100 PASS AC=4;AF=0.00678914;AN=214;NS=2504;DP=17773;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0072;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon30:c.G3825A:p.L1275L,SYNE1:NM_182961:exon30:c.G3804A:p.L1268L;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139524103;CLNALLELEID=135887;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0124;ExAC_nontcga_ALL=0.0086;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0066;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0030;ExAC_nontcga_NFE=0.0136;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0038;AF=0.0075;AF_popmax=0.0127;AF_male=0.0070;AF_female=0.0081;AF_raw=0.0075;AF_afr=0.0020;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0127;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0037;non_topmed_AF_popmax=0.0123;non_neuro_AF_popmax=0.0129;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0093595;Kaviar_AC=1447;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.509282;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152768796 rs502268 T G 100 PASS AC=108;AF=0.597644;AN=214;NS=2504;DP=20506;EAS_AF=0.752;AMR_AF=0.3689;AFR_AF=0.7663;EUR_AF=0.4493;SAS_AF=0.5256;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.597644;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs502268;CLNALLELEID=252203;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4338;ExAC_nontcga_ALL=0.4858;ExAC_nontcga_AFR=0.7207;ExAC_nontcga_AMR=0.3215;ExAC_nontcga_EAS=0.7596;ExAC_nontcga_FIN=0.4162;ExAC_nontcga_NFE=0.4377;ExAC_nontcga_OTH=0.5159;ExAC_nontcga_SAS=0.5234;AF=0.5244;AF_popmax=0.7792;AF_male=0.5313;AF_female=0.5157;AF_raw=0.5243;AF_afr=0.7230;AF_sas=.;AF_amr=0.3620;AF_eas=0.7792;AF_nfe=0.4303;AF_fin=0.3964;AF_asj=0.5276;AF_oth=0.4393;non_topmed_AF_popmax=0.7816;non_neuro_AF_popmax=0.7792;non_cancer_AF_popmax=.;controls_AF_popmax=0.7757;Kaviar_AF=0.469806;Kaviar_AC=72633;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.892480;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152770645 rs17366321 G A 100 PASS AC=14;AF=0.0185703;AN=214;NS=2504;DP=16872;EAS_AF=0.001;AMR_AF=0.0259;AFR_AF=0.0136;EUR_AF=0.0368;SAS_AF=0.0194;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0185703;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17366321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0345;ExAC_nontcga_ALL=0.0284;ExAC_nontcga_AFR=0.0149;ExAC_nontcga_AMR=0.0190;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0378;ExAC_nontcga_NFE=0.0362;ExAC_nontcga_OTH=0.0405;ExAC_nontcga_SAS=0.0257;AF=0.0304;AF_popmax=0.0394;AF_male=0.0285;AF_female=0.0327;AF_raw=0.0304;AF_afr=0.0144;AF_sas=.;AF_amr=0.0224;AF_eas=0;AF_nfe=0.0394;AF_fin=0.0412;AF_asj=0.0828;AF_oth=0.0322;non_topmed_AF_popmax=0.0439;non_neuro_AF_popmax=0.0395;non_cancer_AF_popmax=.;controls_AF_popmax=0.0545;Kaviar_AF=0.0277163;Kaviar_AC=4285;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152771749 rs145113471 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19265;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145113471;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152771789 rs200612820 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16922;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3387A:p.D1129E,SYNE1:NM_182961:exon27:c.C3366A:p.D1122E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200612820;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.125;SIFT_converted_rankscore=0.273;SIFT_pred=T;Polyphen2_HDIV_score=0.049;Polyphen2_HDIV_rankscore=0.315;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.297;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_converted_rankscore=0.230;LRT_pred=N;MutationTaster_score=0.654;MutationTaster_converted_rankscore=0.305;MutationTaster_pred=N;MutationAssessor_score=2.08;MutationAssessor_score_rankscore=0.576;MutationAssessor_pred=M;FATHMM_score=1.42;FATHMM_converted_rankscore=0.332;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_converted_rankscore=0.189;PROVEAN_pred=N;VEST3_score=0.199;VEST3_rankscore=0.271;MetaSVM_score=-1.100;MetaSVM_rankscore=0.040;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.143;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.183;M-CAP_pred=T;REVEL_score=0.023;REVEL_rankscore=0.048;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.036;CADD_raw_rankscore=0.542;CADD_phred=23.7;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.700;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.058;Eigen-PC-raw=0.105;GenoCanyon_score=0.051;GenoCanyon_score_rankscore=0.149;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.91;GERP++_RS_rankscore=0.638;phyloP100way_vertebrate=2.651;phyloP100way_vertebrate_rankscore=0.461;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=13.183;SiPhy_29way_logOdds_rankscore=0.589;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.645753;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152771849 rs17082701 G A 100 PASS AC=26;AF=0.048722;AN=214;NS=2504;DP=16107;EAS_AF=0.003;AMR_AF=0.0389;AFR_AF=0.0688;EUR_AF=0.0746;SAS_AF=0.0491;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3327T:p.H1109H,SYNE1:NM_182961:exon27:c.C3306T:p.H1102H;1000g2015aug_all=0.048722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082701;CLNALLELEID=135885;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0680;ExAC_nontcga_ALL=0.0563;ExAC_nontcga_AFR=0.0770;ExAC_nontcga_AMR=0.0325;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0567;ExAC_nontcga_NFE=0.0681;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0483;AF=0.0658;AF_popmax=0.0729;AF_male=0.0648;AF_female=0.0671;AF_raw=0.0659;AF_afr=0.0694;AF_sas=.;AF_amr=0.0389;AF_eas=0.0019;AF_nfe=0.0729;AF_fin=0.0581;AF_asj=0.1103;AF_oth=0.0608;non_topmed_AF_popmax=0.0795;non_neuro_AF_popmax=0.0738;non_cancer_AF_popmax=.;controls_AF_popmax=0.0928;Kaviar_AF=0.0556655;Kaviar_AC=8606;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0232952|N/A|USF1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d98.977898;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152772239 rs189744630 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17450;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3150G:p.D1050E,SYNE1:NM_182961:exon26:c.T3129G:p.D1043E;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs189744630;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_converted_rankscore=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.093;Polyphen2_HVAR_pred=B;LRT_score=0.718;LRT_converted_rankscore=0.100;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=0.8;FATHMM_converted_rankscore=0.868;FATHMM_pred=T;PROVEAN_score=-0.82;PROVEAN_converted_rankscore=0.225;PROVEAN_pred=N;VEST3_score=0.018;VEST3_rankscore=0.006;MetaSVM_score=-1.046;MetaSVM_rankscore=0.156;MetaSVM_pred=T;MetaLR_score=0.082;MetaLR_rankscore=0.324;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.296;M-CAP_pred=T;REVEL_score=0.129;REVEL_rankscore=0.358;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.914;CADD_raw_rankscore=0.035;CADD_phred=0.024;DANN_score=0.714;DANN_rankscore=0.093;fathmm-MKL_coding_score=0.648;fathmm-MKL_coding_rankscore=0.323;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-1.529;Eigen-PC-raw=-1.474;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.358;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-11.7;GERP++_RS_rankscore=0.000;phyloP100way_vertebrate=0.041;phyloP100way_vertebrate_rankscore=0.137;phyloP20way_mammalian=-0.297;phyloP20way_mammalian_rankscore=0.082;phastCons100way_vertebrate=0.895;phastCons100way_vertebrate_rankscore=0.311;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=6.175;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392797;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152772264 rs214976 A G 100 PASS AC=108;AF=0.607228;AN=214;NS=2504;DP=17297;EAS_AF=0.749;AMR_AF=0.3732;AFR_AF=0.8086;EUR_AF=0.4473;SAS_AF=0.5194;AA=a|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A;1000g2015aug_all=0.607228;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214976;CLNALLELEID=135884;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.033;Polyphen2_HDIV_rankscore=0.349;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_rankscore=0.333;Polyphen2_HVAR_pred=B;LRT_score=0.325;LRT_converted_rankscore=0.142;LRT_pred=N;MutationTaster_score=0.499;MutationTaster_converted_rankscore=0.317;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_score_rankscore=0.510;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_converted_rankscore=0.888;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_converted_rankscore=0.555;PROVEAN_pred=N;VEST3_score=0.159;VEST3_rankscore=0.334;MetaSVM_score=0.108;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.536;MetaLR_rankscore=0.828;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.274;REVEL_rankscore=0.594;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.767;CADD_raw_rankscore=0.510;CADD_phred=23.4;DANN_score=0.997;DANN_rankscore=0.804;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.852;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.132;Eigen-PC-raw=0.230;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.84;GERP++_RS_rankscore=0.934;phyloP100way_vertebrate=8.636;phyloP100way_vertebrate_rankscore=0.907;phyloP20way_mammalian=1.192;phyloP20way_mammalian_rankscore=0.910;phastCons100way_vertebrate=0.986;phastCons100way_vertebrate_rankscore=0.359;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=16.560;SiPhy_29way_logOdds_rankscore=0.843;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4295;ExAC_nontcga_ALL=0.4829;ExAC_nontcga_AFR=0.7518;ExAC_nontcga_AMR=0.3166;ExAC_nontcga_EAS=0.7567;ExAC_nontcga_FIN=0.4079;ExAC_nontcga_NFE=0.4304;ExAC_nontcga_OTH=0.5115;ExAC_nontcga_SAS=0.5198;AF=0.5257;AF_popmax=0.78;AF_male=0.5327;AF_female=0.5170;AF_raw=0.5256;AF_afr=0.7454;AF_sas=.;AF_amr=0.3605;AF_eas=0.78;AF_nfe=0.4214;AF_fin=0.3910;AF_asj=0.5280;AF_oth=0.4384;non_topmed_AF_popmax=0.7824;non_neuro_AF_popmax=0.78;non_cancer_AF_popmax=.;controls_AF_popmax=0.7769;Kaviar_AF=0.471094;Kaviar_AC=72832;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.091145;ALLELE_END;VINYL_score=4 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152774695 rs145050404 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18660;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145050404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.29;FATHMM_converted_rankscore=0.171;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_converted_rankscore=0.301;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.017;MetaSVM_score=-0.975;MetaSVM_rankscore=0.362;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.027;MetaLR_pred=T;M-CAP_score=0.001;M-CAP_rankscore=0.006;M-CAP_pred=T;REVEL_score=0.013;REVEL_rankscore=0.018;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.117;CADD_raw_rankscore=0.105;CADD_phred=3.790;DANN_score=0.679;DANN_rankscore=0.082;fathmm-MKL_coding_score=0.018;fathmm-MKL_coding_rankscore=0.055;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.548;Eigen-PC-raw=-1.717;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-7.72;GERP++_RS_rankscore=0.011;phyloP100way_vertebrate=-0.281;phyloP100way_vertebrate_rankscore=0.084;phyloP20way_mammalian=-1.038;phyloP20way_mammalian_rankscore=0.021;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.266;SiPhy_29way_logOdds_rankscore=0.038;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.825e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.522e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.184e-05;AF_popmax=6.48e-05;AF_male=5.721e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.48e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.578758;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152774917 rs214973 A G 100 PASS AC=108;AF=0.607428;AN=214;NS=2504;DP=14899;EAS_AF=0.749;AMR_AF=0.3732;AFR_AF=0.8094;EUR_AF=0.4473;SAS_AF=0.5194;AA=a|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.607428;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214973;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5262;AF_popmax=0.7786;AF_male=0.5334;AF_female=0.5172;AF_raw=0.5260;AF_afr=0.7460;AF_sas=.;AF_amr=0.3608;AF_eas=0.7786;AF_nfe=0.4223;AF_fin=0.3916;AF_asj=0.5310;AF_oth=0.4366;non_topmed_AF_popmax=0.7810;non_neuro_AF_popmax=0.7786;non_cancer_AF_popmax=.;controls_AF_popmax=0.7758;Kaviar_AF=0.0880648;Kaviar_AC=13615;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.619559;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152776540 rs148626610 T C 100 PASS AC=6;AF=0.0061901;AN=214;NS=2504;DP=17613;EAS_AF=0.001;AMR_AF=0.013;AFR_AF=0.0008;EUR_AF=0.0149;SAS_AF=0.0051;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148626610;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0134;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0090;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0144;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0085;AF=0.0073;AF_popmax=0.0095;AF_male=0.0070;AF_female=0.0077;AF_raw=0.0073;AF_afr=0.0025;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0095;AF_fin=0.0104;AF_asj=0.0379;AF_oth=0.0064;non_topmed_AF_popmax=0.0084;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.0106144;Kaviar_AC=1641;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152776750 rs214968 G A 100 PASS AC=53;AF=0.301518;AN=214;NS=2504;DP=19640;EAS_AF=0.3155;AMR_AF=0.2277;AFR_AF=0.4062;EUR_AF=0.2177;SAS_AF=0.2843;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.301518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs214968;CLNALLELEID=252204;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2298;ExAC_nontcga_ALL=0.2594;ExAC_nontcga_AFR=0.3688;ExAC_nontcga_AMR=0.2088;ExAC_nontcga_EAS=0.3325;ExAC_nontcga_FIN=0.1870;ExAC_nontcga_NFE=0.2419;ExAC_nontcga_OTH=0.2760;ExAC_nontcga_SAS=0.2854;AF=0.2673;AF_popmax=0.3635;AF_male=0.2700;AF_female=0.2639;AF_raw=0.2675;AF_afr=0.3635;AF_sas=.;AF_amr=0.2123;AF_eas=0.3503;AF_nfe=0.2293;AF_fin=0.1808;AF_asj=0.2690;AF_oth=0.2371;non_topmed_AF_popmax=0.3638;non_neuro_AF_popmax=0.3668;non_cancer_AF_popmax=.;controls_AF_popmax=0.3633;Kaviar_AF=0.252604;Kaviar_AC=39053;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.244524;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 1|1 0|0 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152777095 rs17082709 A C 100 PASS AC=26;AF=0.0433307;AN=214;NS=2504;DP=19393;EAS_AF=0.002;AMR_AF=0.0375;AFR_AF=0.0507;EUR_AF=0.0736;SAS_AF=0.0491;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon23:c.T2674G:p.L892V,SYNE1:NM_182961:exon23:c.T2653G:p.L885V;1000g2015aug_all=0.0433307;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17082709;CLNALLELEID=135883;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_converted_rankscore=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.055;Polyphen2_HDIV_rankscore=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_rankscore=0.261;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_score_rankscore=0.413;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_converted_rankscore=0.369;FATHMM_pred=T;PROVEAN_score=-0.67;PROVEAN_converted_rankscore=0.229;PROVEAN_pred=N;VEST3_score=0.14;VEST3_rankscore=0.163;MetaSVM_score=-1.086;MetaSVM_rankscore=0.062;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.158;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.028;REVEL_rankscore=0.066;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.696;CADD_raw_rankscore=0.160;CADD_phred=8.803;DANN_score=0.945;DANN_rankscore=0.244;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_rankscore=0.400;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.478;Eigen-PC-raw=-0.365;GenoCanyon_score=0.156;GenoCanyon_score_rankscore=0.175;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=1.49;GERP++_RS_rankscore=0.219;phyloP100way_vertebrate=2.064;phyloP100way_vertebrate_rankscore=0.408;phyloP20way_mammalian=0.157;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.958;phastCons100way_vertebrate_rankscore=0.332;phastCons20way_mammalian=0.766;phastCons20way_mammalian_rankscore=0.326;SiPhy_29way_logOdds=3.672;SiPhy_29way_logOdds_rankscore=0.078;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0679;ExAC_nontcga_ALL=0.0542;ExAC_nontcga_AFR=0.0538;ExAC_nontcga_AMR=0.0321;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0568;ExAC_nontcga_NFE=0.0682;ExAC_nontcga_OTH=0.0605;ExAC_nontcga_SAS=0.0479;AF=0.0609;AF_popmax=0.0733;AF_male=0.0599;AF_female=0.0621;AF_raw=0.0611;AF_afr=0.0513;AF_sas=.;AF_amr=0.0377;AF_eas=0.0019;AF_nfe=0.0733;AF_fin=0.0579;AF_asj=0.1103;AF_oth=0.0599;non_topmed_AF_popmax=0.0799;non_neuro_AF_popmax=0.0743;non_cancer_AF_popmax=.;controls_AF_popmax=0.0938;Kaviar_AF=0.0554068;Kaviar_AC=8566;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.151559;ALLELE_END;VINYL_score=2.5 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152777200 rs150764932 A G 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=19225;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0072;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150764932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0072;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0091;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0096;AF=0.0059;AF_popmax=0.0076;AF_male=0.0055;AF_female=0.0063;AF_raw=0.0059;AF_afr=0.0020;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0076;AF_fin=0.0086;AF_asj=0;AF_oth=0.0147;non_topmed_AF_popmax=0.0076;non_neuro_AF_popmax=0.0075;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0067528;Kaviar_AC=1044;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.337826;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152777236 rs565631308 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18708;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565631308;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.539355;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152779932 rs191723029 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=20001;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.G2549A:p.R850H,SYNE1:NM_182961:exon22:c.G2528A:p.R843H;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191723029;CLNALLELEID=455382;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.259;SIFT_converted_rankscore=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.103;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.98;MutationAssessor_score_rankscore=0.012;MutationAssessor_pred=N;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=0.03;PROVEAN_converted_rankscore=0.102;PROVEAN_pred=N;VEST3_score=0.053;VEST3_rankscore=0.080;MetaSVM_score=-0.978;MetaSVM_rankscore=0.354;MetaSVM_pred=T;MetaLR_score=0.019;MetaLR_rankscore=0.080;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.181;M-CAP_pred=T;REVEL_score=0.031;REVEL_rankscore=0.076;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.805;CADD_raw_rankscore=0.278;CADD_phred=15.02;DANN_score=0.827;DANN_rankscore=0.139;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_rankscore=0.043;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.430;Eigen-PC-raw=-1.401;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-5.98;GERP++_RS_rankscore=0.020;phyloP100way_vertebrate=0.069;phyloP100way_vertebrate_rankscore=0.143;phyloP20way_mammalian=0.057;phyloP20way_mammalian_rankscore=0.164;phastCons100way_vertebrate=0.015;phastCons100way_vertebrate_rankscore=0.189;phastCons20way_mammalian=0.911;phastCons20way_mammalian_rankscore=0.388;SiPhy_29way_logOdds=12.499;SiPhy_29way_logOdds_rankscore=0.551;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.54e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=6.368e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=7.18e-05;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.639193;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152779933 rs34610829 G A 100 PASS AC=8;AF=0.0115815;AN=214;NS=2504;DP=19910;EAS_AF=0;AMR_AF=0.0187;AFR_AF=0.0015;EUR_AF=0.0209;SAS_AF=0.0225;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.C2548T:p.R850C,SYNE1:NM_182961:exon22:c.C2527T:p.R843C;1000g2015aug_all=0.0115815;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34610829;CLNALLELEID=135877;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.015;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.9;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.316;Polyphen2_HVAR_rankscore=0.504;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.103;LRT_pred=N;MutationTaster_score=0.889;MutationTaster_converted_rankscore=0.382;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_converted_rankscore=0.363;FATHMM_pred=T;PROVEAN_score=-2.77;PROVEAN_converted_rankscore=0.587;PROVEAN_pred=D;VEST3_score=0.088;VEST3_rankscore=0.266;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_rankscore=0.381;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.141;REVEL_rankscore=0.383;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.640;CADD_raw_rankscore=0.622;CADD_phred=24.5;DANN_score=0.999;DANN_rankscore=0.966;fathmm-MKL_coding_score=0.713;fathmm-MKL_coding_rankscore=0.347;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.336;Eigen-PC-raw=0.408;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=4.321;phyloP100way_vertebrate_rankscore=0.588;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.928;phastCons20way_mammalian_rankscore=0.402;SiPhy_29way_logOdds=19.408;SiPhy_29way_logOdds_rankscore=0.946;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0312;ExAC_nontcga_ALL=0.0246;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0179;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0183;ExAC_nontcga_NFE=0.0333;ExAC_nontcga_OTH=0.0331;ExAC_nontcga_SAS=0.0251;AF=0.0212;AF_popmax=0.0317;AF_male=0.0209;AF_female=0.0216;AF_raw=0.0213;AF_afr=0.0072;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0317;AF_fin=0.0187;AF_asj=0.0207;AF_oth=0.0295;non_topmed_AF_popmax=0.0331;non_neuro_AF_popmax=0.0321;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0252325;Kaviar_AC=3901;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.639193;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +6 152782933 rs579464 G A 100 PASS AC=108;AF=0.602436;AN=214;NS=2504;DP=16742;EAS_AF=0.747;AMR_AF=0.3775;AFR_AF=0.7927;EUR_AF=0.4443;SAS_AF=0.5184;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602436;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs579464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5223;AF_popmax=0.7786;AF_male=0.5294;AF_female=0.5134;AF_raw=0.5215;AF_afr=0.7322;AF_sas=.;AF_amr=0.3573;AF_eas=0.7786;AF_nfe=0.4223;AF_fin=0.3908;AF_asj=0.5310;AF_oth=0.4353;non_topmed_AF_popmax=0.7810;non_neuro_AF_popmax=0.7786;non_cancer_AF_popmax=.;controls_AF_popmax=0.7763;Kaviar_AF=0.0886793;Kaviar_AC=13710;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=Name\x3dTEAD4::ELF1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::ELK1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::SPIB|ENSPFM0506|ENSM00205796216|11.7642286588;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.934202;ALLELE_END;VINYL_score=2 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152784054 rs7775181 G A 100 PASS AC=29;AF=0.248802;AN=214;NS=2504;DP=18662;EAS_AF=0.4286;AMR_AF=0.1124;AFR_AF=0.3041;EUR_AF=0.1511;SAS_AF=0.1861;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7775181;CLNALLELEID=252205;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1307;ExAC_nontcga_ALL=0.1648;ExAC_nontcga_AFR=0.2862;ExAC_nontcga_AMR=0.0724;ExAC_nontcga_EAS=0.4237;ExAC_nontcga_FIN=0.1639;ExAC_nontcga_NFE=0.1198;ExAC_nontcga_OTH=0.1749;ExAC_nontcga_SAS=0.1865;AF=0.1840;AF_popmax=0.4271;AF_male=0.1883;AF_female=0.1786;AF_raw=0.1842;AF_afr=0.2876;AF_sas=.;AF_amr=0.0993;AF_eas=0.4271;AF_nfe=0.1171;AF_fin=0.1520;AF_asj=0.1517;AF_oth=0.1360;non_topmed_AF_popmax=0.4286;non_neuro_AF_popmax=0.4271;non_cancer_AF_popmax=.;controls_AF_popmax=0.4441;Kaviar_AF=0.156751;Kaviar_AC=24234;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.134640;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152784075 rs7776344 C T 100 PASS AC=29;AF=0.248802;AN=214;NS=2504;DP=18783;EAS_AF=0.4286;AMR_AF=0.1124;AFR_AF=0.3041;EUR_AF=0.1511;SAS_AF=0.1861;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.248802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7776344;CLNALLELEID=252206;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1305;ExAC_nontcga_ALL=0.1646;ExAC_nontcga_AFR=0.2880;ExAC_nontcga_AMR=0.0724;ExAC_nontcga_EAS=0.4225;ExAC_nontcga_FIN=0.1636;ExAC_nontcga_NFE=0.1197;ExAC_nontcga_OTH=0.1754;ExAC_nontcga_SAS=0.1861;AF=0.1840;AF_popmax=0.4267;AF_male=0.1885;AF_female=0.1784;AF_raw=0.1842;AF_afr=0.2878;AF_sas=.;AF_amr=0.0995;AF_eas=0.4267;AF_nfe=0.1170;AF_fin=0.1518;AF_asj=0.1517;AF_oth=0.1344;non_topmed_AF_popmax=0.4282;non_neuro_AF_popmax=0.4267;non_cancer_AF_popmax=.;controls_AF_popmax=0.4441;Kaviar_AF=0.156583;Kaviar_AC=24208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.081320;ALLELE_END;VINYL_score=1 GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152784621 rs9397509 T C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=19826;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0008;EUR_AF=0.0119;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon19:c.A1985G:p.Q662R,SYNE1:NM_182961:exon19:c.A1964G:p.Q655R;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397509;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.42;SIFT_converted_rankscore=0.632;SIFT_pred=T;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.908;Polyphen2_HVAR_rankscore=0.671;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.2;MutationAssessor_score_rankscore=0.622;MutationAssessor_pred=M;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=N;VEST3_score=0.667;VEST3_rankscore=0.697;MetaSVM_score=-1.071;MetaSVM_rankscore=0.092;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_rankscore=0.375;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.145;REVEL_rankscore=0.391;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.526;CADD_raw_rankscore=0.606;CADD_phred=24.3;DANN_score=0.998;DANN_rankscore=0.920;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.587;Eigen-PC-raw=0.630;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.875;phyloP100way_vertebrate_rankscore=0.855;phyloP20way_mammalian=1.011;phyloP20way_mammalian_rankscore=0.635;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=16.007;SiPhy_29way_logOdds_rankscore=0.801;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0080;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0069;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0139;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=6.225e-05;AF=0.0068;AF_popmax=0.0094;AF_male=0.0061;AF_female=0.0075;AF_raw=0.0067;AF_afr=0.0020;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0089;AF_fin=0.0112;AF_asj=0.0103;AF_oth=0.0074;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0108;non_cancer_AF_popmax=.;controls_AF_popmax=0.0091;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.438642;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152787026 rs142467232 G A 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18059;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142467232;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0015;AF_popmax=0.0019;AF_male=0.0011;AF_female=0.0021;AF_raw=0.0015;AF_afr=0.0012;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0019;Kaviar_AF=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152793375 rs60213252 TA T 100 PASS AC=25;AF=0.195487;AN=214;NS=2504;DP=16367;EAS_AF=0.4266;AMR_AF=0.0908;AFR_AF=0.146;EUR_AF=0.1342;SAS_AF=0.1616;AA=AAAAA|AAAAA|AAAA|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.195487;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60213252;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1416;AF_popmax=0.4287;AF_male=0.1456;AF_female=0.1366;AF_raw=0.1422;AF_afr=0.1611;AF_sas=.;AF_amr=0.0889;AF_eas=0.4287;AF_nfe=0.1103;AF_fin=0.1255;AF_asj=0.1329;AF_oth=0.1160;non_topmed_AF_popmax=0.4302;non_neuro_AF_popmax=0.4287;non_cancer_AF_popmax=.;controls_AF_popmax=0.4471;Kaviar_AF=0.0216306;Kaviar_AC=563;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.279753;ALLELE_END;VINYL_score=2 GT 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152793412 rs4523096 C A 100 PASS AC=168;AF=0.855232;AN=214;NS=2504;DP=16729;EAS_AF=0.9494;AMR_AF=0.7104;AFR_AF=0.9871;EUR_AF=0.7525;SAS_AF=0.7883;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.855232;GWAS=rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744;ORegAnno_REGULATORY_P=rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744;avsnp150=rs4523096;CLNALLELEID=252207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7044;ExAC_nontcga_ALL=0.7692;ExAC_nontcga_AFR=0.9474;ExAC_nontcga_AMR=0.6864;ExAC_nontcga_EAS=0.9684;ExAC_nontcga_FIN=0.8049;ExAC_nontcga_NFE=0.7185;ExAC_nontcga_OTH=0.8020;ExAC_nontcga_SAS=0.7832;AF=0.7958;AF_popmax=0.9698;AF_male=0.7980;AF_female=0.7930;AF_raw=0.7952;AF_afr=0.9412;AF_sas=.;AF_amr=0.7116;AF_eas=0.9698;AF_nfe=0.7072;AF_fin=0.7782;AF_asj=0.7345;AF_oth=0.7731;non_topmed_AF_popmax=0.9697;non_neuro_AF_popmax=0.9698;non_cancer_AF_popmax=.;controls_AF_popmax=0.9726;Kaviar_AF=0.743684;Kaviar_AC=114975;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.411950;ALLELE_END;VINYL_score=2 GT 1|1 1|1 0|1 1|1 0|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 1|0 0|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|0 1|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|0 1|1 1|1 1|0 0|1 0|1 0|1 0|1 1|0 0|1 1|1 1|1 1|0 1|0 0|0 1|1 1|0 1|1 1|1 0|1 1|1 1|0 +6 152793572 rs4331993 T A 100 PASS AC=82;AF=0.483427;AN=214;NS=2504;DP=17728;EAS_AF=0.745;AMR_AF=0.3156;AFR_AF=0.4682;EUR_AF=0.3698;SAS_AF=0.4703;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.483427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4331993;CLNALLELEID=252208;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0162;ExAC_nontcga_ALL=0.3742;ExAC_nontcga_AFR=0.4136;ExAC_nontcga_AMR=0.2554;ExAC_nontcga_EAS=0.7034;ExAC_nontcga_FIN=0.3444;ExAC_nontcga_NFE=0.3395;ExAC_nontcga_OTH=0.3994;ExAC_nontcga_SAS=0.4107;AF=0.3836;AF_popmax=0.7684;AF_male=0.3896;AF_female=0.3761;AF_raw=0.3879;AF_afr=0.4383;AF_sas=.;AF_amr=0.2789;AF_eas=0.7684;AF_nfe=0.3382;AF_fin=0.3119;AF_asj=0.3957;AF_oth=0.3404;non_topmed_AF_popmax=0.7695;non_neuro_AF_popmax=0.7684;non_cancer_AF_popmax=.;controls_AF_popmax=0.7645;Kaviar_AF=0.0222377;Kaviar_AC=3438;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;ALLELE_END;VINYL_score=2 GT 0|1 1|0 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 0|1 0|1 0|0 0|1 1|0 1|1 0|1 0|0 0|0 0|0 1|1 1|1 0|0 0|1 0|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 1|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|0 0|1 1|0 1|1 0|0 0|0 0|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 1|0 +6 152793575 rs4343926 A G 100 PASS AC=108;AF=0.602236;AN=214;NS=2504;DP=17868;EAS_AF=0.747;AMR_AF=0.3775;AFR_AF=0.7912;EUR_AF=0.4443;SAS_AF=0.5194;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.602236;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4343926;CLNALLELEID=252209;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1459;ExAC_nontcga_ALL=0.4740;ExAC_nontcga_AFR=0.7319;ExAC_nontcga_AMR=0.3112;ExAC_nontcga_EAS=0.7452;ExAC_nontcga_FIN=0.4056;ExAC_nontcga_NFE=0.4261;ExAC_nontcga_OTH=0.4970;ExAC_nontcga_SAS=0.5008;AF=0.5157;AF_popmax=0.7707;AF_male=0.5234;AF_female=0.5061;AF_raw=0.5183;AF_afr=0.7284;AF_sas=.;AF_amr=0.3475;AF_eas=0.7707;AF_nfe=0.4149;AF_fin=0.3838;AF_asj=0.5143;AF_oth=0.4219;non_topmed_AF_popmax=0.7729;non_neuro_AF_popmax=0.7707;non_cancer_AF_popmax=.;controls_AF_popmax=0.7673;Kaviar_AF=0.452219;Kaviar_AC=69914;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;ALLELE_END;VINYL_score=2 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152793628 rs4530871 C T 100 PASS AC=14;AF=0.028754;AN=214;NS=2504;DP=18234;EAS_AF=0.001;AMR_AF=0.0274;AFR_AF=0.0514;EUR_AF=0.0368;SAS_AF=0.0194;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.028754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4530871;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0400;AF_popmax=0.0479;AF_male=0.0390;AF_female=0.0413;AF_raw=0.0400;AF_afr=0.0479;AF_sas=.;AF_amr=0.0271;AF_eas=0;AF_nfe=0.0394;AF_fin=0.0412;AF_asj=0.0828;AF_oth=0.0368;non_topmed_AF_popmax=0.0482;non_neuro_AF_popmax=0.0470;non_cancer_AF_popmax=.;controls_AF_popmax=0.0546;Kaviar_AF=0.0056726;Kaviar_AC=877;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277837;ALLELE_END;VINYL_score=2 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +6 152806014 rs146366996 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=19453;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon13:c.G1162A:p.D388N,SYNE1:NM_182961:exon13:c.G1141A:p.D381N;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146366996;CLNALLELEID=191438;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=0.47;FATHMM_converted_rankscore=0.915;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.659;PROVEAN_pred=D;VEST3_score=0.121;VEST3_rankscore=0.283;MetaSVM_score=0.619;MetaSVM_rankscore=0.921;MetaSVM_pred=D;MetaLR_score=0.840;MetaLR_rankscore=0.947;MetaLR_pred=D;M-CAP_score=0.180;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.518;REVEL_rankscore=0.797;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.660;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.571;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.763;Eigen-PC-raw=0.750;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=7.365;phyloP100way_vertebrate_rankscore=0.786;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.448;SiPhy_29way_logOdds_rankscore=0.948;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0011;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0014;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.174e-05;AF=0.0007;AF_popmax=0.0024;AF_male=0.0010;AF_female=0.0004;AF_raw=0.0007;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013583;Kaviar_AC=210;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.568680;ALLELE_END;VINYL_score=9 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152809527 rs9397106 A T 100 PASS AC=108;AF=0.589257;AN=214;NS=2504;DP=15077;EAS_AF=0.748;AMR_AF=0.3746;AFR_AF=0.7368;EUR_AF=0.4503;SAS_AF=0.5215;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.589257;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9397106;CLNALLELEID=135839;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.028;esp6500siv2_ea=0.4328;ExAC_nontcga_ALL=0.4825;ExAC_nontcga_AFR=0.6772;ExAC_nontcga_AMR=0.3125;ExAC_nontcga_EAS=0.7563;ExAC_nontcga_FIN=0.4216;ExAC_nontcga_NFE=0.4377;ExAC_nontcga_OTH=0.5190;ExAC_nontcga_SAS=0.5287;AF=0.5091;AF_popmax=0.7751;AF_male=0.5139;AF_female=0.5032;AF_raw=0.5089;AF_afr=0.6716;AF_sas=.;AF_amr=0.3587;AF_eas=0.7751;AF_nfe=0.4266;AF_fin=0.4053;AF_asj=0.5241;AF_oth=0.4429;non_topmed_AF_popmax=0.7774;non_neuro_AF_popmax=0.7751;non_cancer_AF_popmax=.;controls_AF_popmax=0.7703;Kaviar_AF=0.465628;Kaviar_AC=71987;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927068;ALLELE_END;VINYL_score=1 GT 0|1 1|1 0|0 1|1 0|1 1|1 1|1 0|0 0|0 1|0 1|1 1|1 0|1 0|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 0|1 0|0 0|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 0|1 0|0 1|1 1|0 0|1 0|0 0|1 0|1 0|0 0|1 1|1 1|1 1|1 0|0 1|0 0|0 1|1 1|0 0|1 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 0|0 1|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 0|1 1|1 0|0 0|1 0|1 0|0 0|1 0|0 0|1 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 +6 152809540 rs144105769 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15028;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon12:c.T1059C:p.D353D,SYNE1:NM_182961:exon12:c.T1038C:p.D346D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144105769;CLNALLELEID=268918;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0010;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.161e-05;AF=0.0007;AF_popmax=0.0012;AF_male=0.0009;AF_female=0.0005;AF_raw=0.0007;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.211953;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152809699 rs542002335 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15642;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542002335;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.553e-05;AF_popmax=0.0001;AF_male=5.721e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.017e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.628973;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152826456 rs146053885 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17512;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon9:c.A679G:p.I227V,SYNE1:NM_182961:exon9:c.A658G:p.I220V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146053885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.097;SIFT_converted_rankscore=0.555;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.453;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.455;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.431;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.57;MutationAssessor_score_rankscore=0.397;MutationAssessor_pred=L;FATHMM_score=-3.65;FATHMM_converted_rankscore=0.952;FATHMM_pred=D;PROVEAN_score=-0.64;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.39;VEST3_rankscore=0.540;MetaSVM_score=0.331;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.055;M-CAP_rankscore=0.664;M-CAP_pred=D;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.348;CADD_raw_rankscore=0.461;CADD_phred=22.9;DANN_score=0.993;DANN_rankscore=0.569;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.692;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.104;Eigen-PC-raw=0.040;GenoCanyon_score=0.605;GenoCanyon_score_rankscore=0.217;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.74;GERP++_RS_rankscore=0.900;phyloP100way_vertebrate=5.084;phyloP100way_vertebrate_rankscore=0.641;phyloP20way_mammalian=1.047;phyloP20way_mammalian_rankscore=0.674;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.979;phastCons20way_mammalian_rankscore=0.486;SiPhy_29way_logOdds=16.096;SiPhy_29way_logOdds_rankscore=0.808;Interpro_domain=Calponin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.428e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.392559;ALLELE_END;VINYL_score=5 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152831295 rs201029283 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18149;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201029283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.372e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.024e-05;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.881290;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152832851 rs191229374 T C 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=17928;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs191229374;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0084;AF_popmax=0.0115;AF_male=0.0082;AF_female=0.0087;AF_raw=0.0084;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0161;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0134;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.308234;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152847284 rs139156106 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=18345;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon4:c.T156C:p.D52D,SYNE1:NM_182961:exon5:c.T156C:p.D52D;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139156106;CLNALLELEID=252211;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0126;ExAC_nontcga_NFE=0.0124;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0012;AF=0.0084;AF_popmax=0.0115;AF_male=0.0082;AF_female=0.0087;AF_raw=0.0085;AF_afr=0.0016;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0115;AF_fin=0.0161;AF_asj=0.0172;AF_oth=0.0101;non_topmed_AF_popmax=0.0118;non_neuro_AF_popmax=0.0117;non_cancer_AF_popmax=.;controls_AF_popmax=0.0136;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.280894;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +6 152847335 rs2141152 G A 100 PASS AC=74;AF=0.264177;AN=214;NS=2504;DP=18058;EAS_AF=0.4395;AMR_AF=0.1888;AFR_AF=0.1157;EUR_AF=0.3757;SAS_AF=0.2229;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264177;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2141152;CLNALLELEID=252212;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3233;ExAC_nontcga_ALL=0.2928;ExAC_nontcga_AFR=0.1274;ExAC_nontcga_AMR=0.1364;ExAC_nontcga_EAS=0.4461;ExAC_nontcga_FIN=0.4755;ExAC_nontcga_NFE=0.3238;ExAC_nontcga_OTH=0.3490;ExAC_nontcga_SAS=0.2388;AF=0.2897;AF_popmax=0.4457;AF_male=0.2876;AF_female=0.2922;AF_raw=0.2894;AF_afr=0.1285;AF_sas=.;AF_amr=0.1836;AF_eas=0.4457;AF_nfe=0.3310;AF_fin=0.4505;AF_asj=0.2724;AF_oth=0.3438;non_topmed_AF_popmax=0.4476;non_neuro_AF_popmax=0.4457;non_cancer_AF_popmax=.;controls_AF_popmax=0.4582;Kaviar_AF=0.288366;Kaviar_AC=44582;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 0|1 0|0 0|1 1|1 1|0 0|0 0|0 0|1 1|1 0|1 1|1 0|0 0|0 1|0 1|1 0|0 0|1 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|1 1|0 1|0 0|1 1|0 1|0 1|1 1|0 0|0 0|1 0|1 1|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 1|1 1|0 1|0 1|0 1|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 1|0 0|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 +7 35271037 rs113221975 C T 100 PASS AC=2;AF=0.00339457;AN=214;NS=2504;DP=18933;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0;AA=C|||;VT=SNP;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113221975;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0077;AF_popmax=0.0189;AF_male=0.0067;AF_female=0.0090;AF_raw=0.0078;AF_afr=0.0015;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0077;AF_fin=0.0239;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0198;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0013519;Kaviar_AC=209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001123772|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.923844;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35271254 rs2075047 T C 100 PASS AC=45;AF=0.0888578;AN=214;NS=2504;DP=23680;EAS_AF=0.0625;AMR_AF=0.1282;AFR_AF=0.0794;EUR_AF=0.1511;SAS_AF=0.0368;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0888578;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2075047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1782;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1209;AF_popmax=0.1493;AF_male=0.1219;AF_female=0.1197;AF_raw=0.1211;AF_afr=0.0921;AF_sas=.;AF_amr=0.1026;AF_eas=0.0959;AF_nfe=0.1493;AF_fin=0.0653;AF_asj=0.3056;AF_oth=0.1287;non_topmed_AF_popmax=0.1436;non_neuro_AF_popmax=0.1472;non_cancer_AF_popmax=.;controls_AF_popmax=0.1138;Kaviar_AF=0.0265132;Kaviar_AC=4099;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.624939;ALLELE_END;VINYL_score=0 GT 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 1|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|1 0|0 0|1 +7 35280480 rs536449636 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20885;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536449636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.524e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.861e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.198201;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35280539 rs6950175 G T 100 PASS AC=1;AF=0.0305511;AN=214;NS=2504;DP=20824;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.1021;EUR_AF=0.001;SAS_AF=0.0112;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon5:c.C765A:p.I255I,TBX20:NM_001166220:exon5:c.C765A:p.I255I;1000g2015aug_all=0.0305511;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6950175;CLNALLELEID=509889;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0104;ExAC_nontcga_AFR=0.0877;ExAC_nontcga_AMR=0.0046;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0133;AF=0.0248;AF_popmax=0.0866;AF_male=0.0264;AF_female=0.0229;AF_raw=0.0249;AF_afr=0.0866;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0862;non_neuro_AF_popmax=0.0901;non_cancer_AF_popmax=.;controls_AF_popmax=0.0921;Kaviar_AF=0.0093789;Kaviar_AC=1450;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.941169;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35280693 rs2072434 C T 100 PASS AC=85;AF=0.34365;AN=214;NS=2504;DP=20004;EAS_AF=0.2897;AMR_AF=0.4352;AFR_AF=0.2738;EUR_AF=0.3797;SAS_AF=0.3916;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072434;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3906;ExAC_nontcga_ALL=0.3824;ExAC_nontcga_AFR=0.2860;ExAC_nontcga_AMR=0.5530;ExAC_nontcga_EAS=0.2474;ExAC_nontcga_FIN=0.4065;ExAC_nontcga_NFE=0.3820;ExAC_nontcga_OTH=0.3810;ExAC_nontcga_SAS=0.3766;AF=0.3582;AF_popmax=0.4976;AF_male=0.3589;AF_female=0.3573;AF_raw=0.3580;AF_afr=0.2869;AF_sas=.;AF_amr=0.4976;AF_eas=0.2426;AF_nfe=0.3900;AF_fin=0.4116;AF_asj=0.3759;AF_oth=0.3591;non_topmed_AF_popmax=0.5012;non_neuro_AF_popmax=0.4657;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.371004;Kaviar_AC=57358;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.361742::-0.20722;Heart_Left_Ventricle=Heart_Left_Ventricle::0.352941::-0.177372;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.732609;ALLELE_END;VINYL_score=1 GT 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 1|1 1|0 +7 35288276 rs17675148 T C 100 PASS AC=85;AF=0.34365;AN=214;NS=2504;DP=16787;EAS_AF=0.2897;AMR_AF=0.4352;AFR_AF=0.2746;EUR_AF=0.3797;SAS_AF=0.3906;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.34365;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17675148;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3907;ExAC_nontcga_ALL=0.3819;ExAC_nontcga_AFR=0.2870;ExAC_nontcga_AMR=0.5531;ExAC_nontcga_EAS=0.2467;ExAC_nontcga_FIN=0.4056;ExAC_nontcga_NFE=0.3810;ExAC_nontcga_OTH=0.3818;ExAC_nontcga_SAS=0.3748;AF=0.3580;AF_popmax=0.4976;AF_male=0.3583;AF_female=0.3575;AF_raw=0.3580;AF_afr=0.2866;AF_sas=.;AF_amr=0.4976;AF_eas=0.2422;AF_nfe=0.3898;AF_fin=0.4110;AF_asj=0.3759;AF_oth=0.3583;non_topmed_AF_popmax=0.5012;non_neuro_AF_popmax=0.4657;non_cancer_AF_popmax=.;controls_AF_popmax=0.4756;Kaviar_AF=0.378514;Kaviar_AC=58519;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.361742::-0.20722;Heart_Left_Ventricle=Heart_Left_Ventricle::0.352941::-0.177372;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1893137|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.448200;ALLELE_END;VINYL_score=2 GT 1|1 0|0 1|0 0|0 0|1 1|0 1|0 0|1 0|1 0|0 0|0 0|0 1|0 1|0 1|0 0|0 0|0 1|0 1|0 1|0 0|0 1|1 1|0 1|0 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|1 0|0 1|1 0|0 1|0 0|1 1|0 0|0 0|0 1|1 1|0 1|0 1|1 0|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|1 0|1 1|1 1|0 1|0 0|0 0|0 0|0 1|1 0|1 0|1 1|1 0|0 1|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 1|1 0|1 0|0 0|0 1|0 0|1 0|1 0|1 1|1 0|1 1|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 1|1 0|0 1|1 1|0 +7 35293158 rs199991861 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16589;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.C74G:p.S25W,TBX20:NM_001166220:exon1:c.C74G:p.S25W;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199991861;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.515;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.55;Polyphen2_HVAR_rankscore=0.474;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=-2.54;FATHMM_converted_rankscore=0.895;FATHMM_pred=D;PROVEAN_score=-2.53;PROVEAN_converted_rankscore=0.548;PROVEAN_pred=D;VEST3_score=0.634;VEST3_rankscore=0.652;MetaSVM_score=0.327;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.602;MetaLR_rankscore=0.858;MetaLR_pred=D;M-CAP_score=0.199;M-CAP_rankscore=0.867;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.806;CADD_raw_rankscore=0.925;CADD_phred=32;DANN_score=0.988;DANN_rankscore=0.465;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.514;Eigen-PC-raw=0.577;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=5.35;GERP++_RS_rankscore=0.762;phyloP100way_vertebrate=9.606;phyloP100way_vertebrate_rankscore=0.978;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=18.657;SiPhy_29way_logOdds_rankscore=0.914;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.821e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.901e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961275;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 35293193 rs336283 A G 100 PASS AC=154;AF=0.69389;AN=214;NS=2504;DP=16836;EAS_AF=0.5893;AMR_AF=0.6816;AFR_AF=0.8797;EUR_AF=0.6789;SAS_AF=0.5746;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S;1000g2015aug_all=0.69389;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs336283;CLNALLELEID=508825;CLNDN=Atrial_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969657,OMIM:611363|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6892;ExAC_nontcga_ALL=0.6750;ExAC_nontcga_AFR=0.8589;ExAC_nontcga_AMR=0.7116;ExAC_nontcga_EAS=0.5618;ExAC_nontcga_FIN=0.6532;ExAC_nontcga_NFE=0.6793;ExAC_nontcga_OTH=0.6906;ExAC_nontcga_SAS=0.5963;AF=0.7198;AF_popmax=0.8607;AF_male=0.7236;AF_female=0.7150;AF_raw=0.7190;AF_afr=0.8607;AF_sas=.;AF_amr=0.7205;AF_eas=0.5589;AF_nfe=0.6737;AF_fin=0.6592;AF_asj=0.7690;AF_oth=0.6556;non_topmed_AF_popmax=0.8604;non_neuro_AF_popmax=0.8524;non_cancer_AF_popmax=.;controls_AF_popmax=0.8527;Kaviar_AF=0.674991;Kaviar_AC=104355;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.961100;ALLELE_END;VINYL_score=0 GT 1|1 0|1 1|1 0|1 1|1 1|0 1|1 0|1 1|1 0|1 0|1 1|1 1|1 1|0 1|0 1|0 0|1 1|0 1|1 1|1 1|0 1|1 1|1 1|1 0|1 1|1 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|0 1|0 0|0 1|1 1|0 1|1 0|0 1|0 0|0 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|0 0|1 0|0 0|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|0 1|1 1|1 1|1 1|0 1|1 1|0 0|1 0|1 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|0 0|1 1|1 0|1 1|1 0|1 1|1 0|1 0|1 0|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|1 1|1 +7 35293222 rs147393830 T A 100 PASS AC=3;AF=0.000599042;AN=214;NS=2504;DP=16370;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.A10T:p.T4S,TBX20:NM_001166220:exon1:c.A10T:p.T4S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147393830;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.06;SIFT_converted_rankscore=0.373;SIFT_pred=T;Polyphen2_HDIV_score=0.882;Polyphen2_HDIV_rankscore=0.465;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.332;Polyphen2_HVAR_rankscore=0.404;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-2.32;FATHMM_converted_rankscore=0.878;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.517;VEST3_rankscore=0.559;MetaSVM_score=-0.136;MetaSVM_rankscore=0.793;MetaSVM_pred=T;MetaLR_score=0.456;MetaLR_rankscore=0.788;MetaLR_pred=T;M-CAP_score=0.120;M-CAP_rankscore=0.801;M-CAP_pred=D;REVEL_score=0.395;REVEL_rankscore=0.713;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.411;CADD_raw_rankscore=0.351;CADD_phred=18.89;DANN_score=0.992;DANN_rankscore=0.560;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.793;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.223;Eigen-PC-raw=0.305;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.623;integrated_fitCons_score_rankscore=0.393;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=5.862;phyloP100way_vertebrate_rankscore=0.691;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.517;SiPhy_29way_logOdds_rankscore=0.673;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000821757|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.962050;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81579832 rs367960608 T TA 100 PASS AC=21;AF=0.0621006;AN=214;NS=2504;DP=21078;EAS_AF=0.0169;AMR_AF=0.1138;AFR_AF=0.0545;EUR_AF=0.0855;SAS_AF=0.0583;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0621006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367960608;CLNALLELEID=212615;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0808;ExAC_nontcga_ALL=0.0956;ExAC_nontcga_AFR=0.0771;ExAC_nontcga_AMR=0.1774;ExAC_nontcga_EAS=0.0235;ExAC_nontcga_FIN=0.0815;ExAC_nontcga_NFE=0.1015;ExAC_nontcga_OTH=0.0699;ExAC_nontcga_SAS=0.0815;AF=0.0784;AF_popmax=0.1398;AF_male=0.0753;AF_female=0.0822;AF_raw=0.0738;AF_afr=0.0683;AF_sas=.;AF_amr=0.1398;AF_eas=0.0204;AF_nfe=0.0861;AF_fin=0.0861;AF_asj=0.0236;AF_oth=0.0936;non_topmed_AF_popmax=0.1455;non_neuro_AF_popmax=0.1234;non_cancer_AF_popmax=.;controls_AF_popmax=0.1420;Kaviar_AF=0.0018111;Kaviar_AC=280;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 +7 81588636 rs1229502 G A 100 PASS AC=64;AF=0.222644;AN=214;NS=2504;DP=18274;EAS_AF=0.2371;AMR_AF=0.255;AFR_AF=0.1127;EUR_AF=0.3042;SAS_AF=0.2495;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon38:c.C3114T:p.P1038P;1000g2015aug_all=0.222644;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229502;CLNALLELEID=252942;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3153;ExAC_nontcga_ALL=0.2863;ExAC_nontcga_AFR=0.1375;ExAC_nontcga_AMR=0.3434;ExAC_nontcga_EAS=0.2479;ExAC_nontcga_FIN=0.2776;ExAC_nontcga_NFE=0.3051;ExAC_nontcga_OTH=0.2673;ExAC_nontcga_SAS=0.2901;AF=0.2523;AF_popmax=0.3060;AF_male=0.2505;AF_female=0.2547;AF_raw=0.2524;AF_afr=0.1363;AF_sas=.;AF_amr=0.2981;AF_eas=0.2186;AF_nfe=0.3060;AF_fin=0.2921;AF_asj=0.3310;AF_oth=0.2858;non_topmed_AF_popmax=0.3040;non_neuro_AF_popmax=0.3072;non_cancer_AF_popmax=.;controls_AF_popmax=0.2963;Kaviar_AF=0.282655;Kaviar_AC=43699;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.944438;ALLELE_END;VINYL_score=-1 GT 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +7 81588738 rs558103164 G A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18842;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs558103164;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0001;AF_popmax=0.0003;AF_male=5.733e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003458;Kaviar_AC=9;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81591114 rs72063149 GTAATGATTATAACAGTATATACAATTTCT G 100 PASS AC=145;AF=0.698682;AN=214;NS=2504;DP=12189;EAS_AF=0.7232;AMR_AF=0.6657;AFR_AF=0.7337;EUR_AF=0.6988;SAS_AF=0.6493;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.698682;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35112512;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7183;AF_popmax=0.7624;AF_male=0.7237;AF_female=0.7115;AF_raw=0.7190;AF_afr=0.7624;AF_sas=.;AF_amr=0.7124;AF_eas=0.7450;AF_nfe=0.6894;AF_fin=0.7323;AF_asj=0.6143;AF_oth=0.7243;non_topmed_AF_popmax=0.7612;non_neuro_AF_popmax=0.7471;non_cancer_AF_popmax=.;controls_AF_popmax=0.7562;Kaviar_AF=0.0422622;Kaviar_AC=1100;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 1|1 1|0 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|0 0|1 1|1 1|1 0|1 1|1 1|1 0|1 0|1 0|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|1 1|0 0|0 1|1 1|1 1|1 0|0 1|0 1|1 1|1 1|0 0|0 1|0 1|1 1|1 0|1 1|0 1|0 1|1 0|1 0|0 1|0 0|1 0|1 1|1 1|1 0|1 1|0 1|1 1|0 1|0 1|1 0|1 1|1 1|1 1|0 1|1 1|0 1|1 1|0 1|0 1|1 1|0 0|1 1|1 1|1 1|0 1|1 1|1 0|1 0|1 0|0 0|0 1|1 1|1 0|1 0|1 1|1 1|1 0|1 1|1 0|1 1|0 0|1 1|0 0|1 1|1 0|0 1|0 0|0 1|1 1|1 1|1 0|1 1|0 0|1 +7 81591409 rs146923887 G A 100 PASS AC=8;AF=0.00778754;AN=214;NS=2504;DP=15149;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0219;SAS_AF=0.0112;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146923887;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0147;AF_popmax=0.0228;AF_male=0.0148;AF_female=0.0146;AF_raw=0.0147;AF_afr=0.0045;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0228;AF_fin=0.0060;AF_asj=0.0586;AF_oth=0.0175;non_topmed_AF_popmax=0.0221;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0222;Kaviar_AF=0.0038486;Kaviar_AC=595;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81591716 rs1229503 T G 100 PASS AC=66;AF=0.230232;AN=214;NS=2504;DP=15107;EAS_AF=0.2401;AMR_AF=0.2695;AFR_AF=0.1293;EUR_AF=0.3022;SAS_AF=0.2546;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.230232;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229503;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3168;ExAC_nontcga_ALL=0.3286;ExAC_nontcga_AFR=0.1689;ExAC_nontcga_AMR=0.4143;ExAC_nontcga_EAS=0.3024;ExAC_nontcga_FIN=0.3026;ExAC_nontcga_NFE=0.3534;ExAC_nontcga_OTH=0.3047;ExAC_nontcga_SAS=0.3136;AF=0.2558;AF_popmax=0.3046;AF_male=0.2546;AF_female=0.2574;AF_raw=0.2560;AF_afr=0.1531;AF_sas=.;AF_amr=0.3038;AF_eas=0.2255;AF_nfe=0.3046;AF_fin=0.2825;AF_asj=0.3438;AF_oth=0.2849;non_topmed_AF_popmax=0.3005;non_neuro_AF_popmax=0.3056;non_cancer_AF_popmax=.;controls_AF_popmax=0.2927;Kaviar_AF=0.271678;Kaviar_AC=42002;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 1|1 0|0 0|1 0|1 1|1 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 1|0 1|1 1|0 0|1 1|0 0|0 1|1 0|0 1|0 0|0 0|1 0|0 1|1 1|0 0|0 1|1 0|1 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +7 81591827 rs554617855 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15442;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs554617855;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.008e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.198e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81593454 rs3735517 G A 100 PASS AC=56;AF=0.257987;AN=214;NS=2504;DP=16263;EAS_AF=0.1994;AMR_AF=0.2277;AFR_AF=0.351;EUR_AF=0.2316;SAS_AF=0.2413;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3735517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2076;ExAC_nontcga_ALL=0.2194;ExAC_nontcga_AFR=0.3534;ExAC_nontcga_AMR=0.1959;ExAC_nontcga_EAS=0.1851;ExAC_nontcga_FIN=0.2050;ExAC_nontcga_NFE=0.2097;ExAC_nontcga_OTH=0.1928;ExAC_nontcga_SAS=0.2201;AF=0.2441;AF_popmax=0.3509;AF_male=0.2498;AF_female=0.2370;AF_raw=0.2440;AF_afr=0.3509;AF_sas=.;AF_amr=0.2026;AF_eas=0.1795;AF_nfe=0.1989;AF_fin=0.2229;AF_asj=0.2241;AF_oth=0.2270;non_topmed_AF_popmax=0.3511;non_neuro_AF_popmax=0.3438;non_cancer_AF_popmax=.;controls_AF_popmax=0.3549;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.257987;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3735517;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2076;ExAC_nontcga_ALL=0.2194;ExAC_nontcga_AFR=0.3534;ExAC_nontcga_AMR=0.1959;ExAC_nontcga_EAS=0.1851;ExAC_nontcga_FIN=0.2050;ExAC_nontcga_NFE=0.2097;ExAC_nontcga_OTH=0.1928;ExAC_nontcga_SAS=0.2201;AF=0.2441;AF_popmax=0.3509;AF_male=0.2498;AF_female=0.2370;AF_raw=0.2440;AF_afr=0.3509;AF_sas=.;AF_amr=0.2026;AF_eas=0.1795;AF_nfe=0.1989;AF_fin=0.2229;AF_asj=0.2241;AF_oth=0.2270;non_topmed_AF_popmax=0.3511;non_neuro_AF_popmax=0.3438;non_cancer_AF_popmax=.;controls_AF_popmax=0.3549;Kaviar_AF=0.217481;Kaviar_AC=33623;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 1|0 0|1 0|1 0|1 0|0 0|1 0|0 0|1 0|0 0|0 0|1 1|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|1 1|1 1|0 0|0 0|0 0|1 +7 81593508 rs200274400 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17585;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200274400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.475e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200274400;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.475e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.845e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.488e-05;AF_male=0;AF_female=7.194e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.352e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81594860 rs202062464 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17422;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202062464;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.096e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.557e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=3.19e-05;AF_popmax=0.0001;AF_male=5.731e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.329747;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81596639 rs575257851 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13346;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs575257851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81598129 rs150919520 T C 100 PASS AC=2;AF=0.00858626;AN=214;NS=2504;DP=14563;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.0139;SAS_AF=0.0286;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150919520;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0130;AF_popmax=0.0142;AF_male=0.0119;AF_female=0.0144;AF_raw=0.0131;AF_afr=0.0023;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0142;AF_fin=0.0416;AF_asj=0.0138;AF_oth=0.0148;non_topmed_AF_popmax=0.0163;non_neuro_AF_popmax=0.0146;non_cancer_AF_popmax=.;controls_AF_popmax=0.0197;Kaviar_AF=0.0017852;Kaviar_AC=276;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81599131 rs572099544 G A 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=15323;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572099544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.523e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0004226;Kaviar_AC=11;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81600168 rs566275476 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17590;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566275476;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81601231 rs1229505 C G 100 PASS AC=74;AF=0.236422;AN=214;NS=2504;DP=13233;EAS_AF=0.2222;AMR_AF=0.3184;AFR_AF=0.0946;EUR_AF=0.3519;SAS_AF=0.2658;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.236422;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1229505;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3844;ExAC_nontcga_ALL=0.3296;ExAC_nontcga_AFR=0.1417;ExAC_nontcga_AMR=0.3810;ExAC_nontcga_EAS=0.2354;ExAC_nontcga_FIN=0.2815;ExAC_nontcga_NFE=0.3720;ExAC_nontcga_OTH=0.2953;ExAC_nontcga_SAS=0.3178;AF=0.2906;AF_popmax=0.3748;AF_male=0.2872;AF_female=0.2949;AF_raw=0.2906;AF_afr=0.1417;AF_sas=.;AF_amr=0.3434;AF_eas=0.22;AF_nfe=0.3748;AF_fin=0.2980;AF_asj=0.3897;AF_oth=0.3048;non_topmed_AF_popmax=0.3689;non_neuro_AF_popmax=0.3755;non_cancer_AF_popmax=.;controls_AF_popmax=0.3573;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|1 1|1 1|0 0|1 0|0 1|0 0|1 1|1 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 0|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 0|0 0|1 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 1|1 0|1 1|0 0|0 1|1 0|0 1|0 0|1 0|1 0|0 0|1 1|0 0|1 1|0 0|1 1|0 0|0 0|0 1|0 1|0 1|1 1|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 +7 81603871 rs141806359 G GAA 100 PASS AC=28;AF=0.096845;AN=214;NS=2504;DP=15478;EAS_AF=0.1151;AMR_AF=0.1182;AFR_AF=0.1044;EUR_AF=0.0905;SAS_AF=0.0593;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.096845;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141806359;CLNALLELEID=212616;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0922;ExAC_nontcga_ALL=0.1067;ExAC_nontcga_AFR=0.1064;ExAC_nontcga_AMR=0.1515;ExAC_nontcga_EAS=0.1446;ExAC_nontcga_FIN=0.0482;ExAC_nontcga_NFE=0.1174;ExAC_nontcga_OTH=0.1273;ExAC_nontcga_SAS=0.0678;AF=0.0885;AF_popmax=0.1255;AF_male=0.0909;AF_female=0.0855;AF_raw=0.0834;AF_afr=0.1000;AF_sas=.;AF_amr=0.1107;AF_eas=0.1255;AF_nfe=0.0833;AF_fin=0.0484;AF_asj=0.1036;AF_oth=0.0906;non_topmed_AF_popmax=0.1247;non_neuro_AF_popmax=0.1255;non_cancer_AF_popmax=.;controls_AF_popmax=0.1294;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.591094;ALLELE_END;VINYL_score=-1 GT 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 1|0 1|0 0|0 0|0 0|1 +7 81603945 rs66590028 AT A 100 PASS AC=154;AF=0.678514;AN=214;NS=2504;DP=15073;EAS_AF=0.7153;AMR_AF=0.7075;AFR_AF=0.6278;EUR_AF=0.7207;SAS_AF=0.6452;AA=|||unknown(HR);VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.678514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61006565;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.7110;AF_popmax=0.7529;AF_male=0.7125;AF_female=0.7091;AF_raw=0.7026;AF_afr=0.6784;AF_sas=.;AF_amr=0.7076;AF_eas=0.7529;AF_nfe=0.7292;AF_fin=0.7012;AF_asj=0.6667;AF_oth=0.7027;non_topmed_AF_popmax=0.7534;non_neuro_AF_popmax=0.7529;non_cancer_AF_popmax=.;controls_AF_popmax=0.7583;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 1|1 1|0 0|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 0|1 1|1 1|1 1|1 0|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 1|1 1|0 0|0 1|1 0|1 1|1 1|0 1|0 1|0 1|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 1|1 1|1 0|1 0|0 1|1 0|0 1|0 1|1 1|0 0|1 0|0 1|1 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 0|1 1|0 1|1 1|1 0|1 1|1 0|0 0|0 1|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 1|0 0|1 1|0 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|1 0|1 1|0 0|1 +7 81612766 rs549858792 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18490;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs549858792;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.126500;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81634681 rs536648686 G T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15564;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs536648686;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.103635;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81634822 rs201578104;rs576139922 GA AA,G 100 PASS AC=51,36;AF=0.219848,0.20028;AN=214;NS=2504;DP=16850;EAS_AF=0.1806,0.2361;AMR_AF=0.1729,0.2176;AFR_AF=0.2511,0.177;EUR_AF=0.1909,0.2127;SAS_AF=0.2812,0.1697;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.219848;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201578104;CLNALLELEID=502511;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.076;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1607;ExAC_nontcga_AFR=0.1495;ExAC_nontcga_AMR=0.2246;ExAC_nontcga_EAS=0.1965;ExAC_nontcga_FIN=0.2098;ExAC_nontcga_NFE=0.1529;ExAC_nontcga_OTH=0.1774;ExAC_nontcga_SAS=0.1458;AF=0.0632;AF_popmax=0.0627;AF_male=0.0634;AF_female=0.0630;AF_raw=0.0501;AF_afr=0.0330;AF_sas=.;AF_amr=0.0586;AF_eas=0.0215;AF_nfe=0.0627;AF_fin=0.2596;AF_asj=0.0234;AF_oth=0.0900;non_topmed_AF_popmax=0.0768;non_neuro_AF_popmax=0.0614;non_cancer_AF_popmax=.;controls_AF_popmax=0.1427;Kaviar_AF=0.0077037;Kaviar_AC=1191;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.838848;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.20028;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576139922;CLNALLELEID=396450;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2827;ExAC_nontcga_AFR=0.2416;ExAC_nontcga_AMR=0.2178;ExAC_nontcga_EAS=0.2428;ExAC_nontcga_FIN=0.2122;ExAC_nontcga_NFE=0.2788;ExAC_nontcga_OTH=0.2661;ExAC_nontcga_SAS=0.3306;AF=0.0547;AF_popmax=0.0759;AF_male=0.0555;AF_female=0.0536;AF_raw=0.0364;AF_afr=0.0588;AF_sas=.;AF_amr=0.0759;AF_eas=0.0013;AF_nfe=0.0488;AF_fin=0.1129;AF_asj=0.0625;AF_oth=0.0687;non_topmed_AF_popmax=0.0752;non_neuro_AF_popmax=0.0550;non_cancer_AF_popmax=.;controls_AF_popmax=0.1667;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.838848;ALLELE_END;VINYL_score=-1 GT 0|1 0|1 0|1 0|2 1|0 1|0 0|2 0|1 1|0 0|1 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|1 0|0 2|0 1|0 1|0 0|1 1|0 0|0 2|0 1|0 0|2 0|1 0|1 0|0 0|1 0|1 1|0 1|0 1|0 1|0 0|0 2|0 0|1 1|0 0|0 0|0 0|2 0|0 2|0 0|2 0|1 0|2 0|2 1|0 2|0 0|2 1|0 2|0 0|2 2|0 0|1 1|0 1|0 0|1 1|0 0|1 2|0 1|0 2|0 0|1 1|0 2|0 0|2 0|0 0|1 2|0 0|1 0|2 2|0 1|0 0|2 0|1 0|0 0|0 0|0 0|1 0|0 2|0 2|0 2|0 1|0 0|0 2|0 0|0 0|0 0|0 2|0 2|0 0|0 2|0 2|0 0|2 1|0 0|2 1|0 1|0 2|0 1|0 0|2 0|1 +7 81635221 rs143088765 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17426;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143088765;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.68e-05;Kaviar_AC=2;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81635245 rs2302384 T C 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=17645;EAS_AF=0.0159;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302384;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0054;AF_popmax=0.0096;AF_male=0.0044;AF_female=0.0067;AF_raw=0.0054;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0.0096;AF_nfe=0.0051;AF_fin=0.0150;AF_asj=0.0034;AF_oth=0.0166;non_topmed_AF_popmax=0.0086;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0087;Kaviar_AF=0.0006792;Kaviar_AC=105;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81641500 rs73151504 G A 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=3831;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon15:c.C1332T:p.V444V;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73151504;CLNALLELEID=240182;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0083;ExAC_nontcga_ALL=0.0087;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0176;ExAC_nontcga_NFE=0.0127;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0045;AF=0.0095;AF_popmax=0.0133;AF_male=0.0087;AF_female=0.0105;AF_raw=0.0095;AF_afr=0.0017;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0133;AF_fin=0.0172;AF_asj=0.0034;AF_oth=0.0130;non_topmed_AF_popmax=0.0145;non_neuro_AF_popmax=0.0135;non_cancer_AF_popmax=.;controls_AF_popmax=0.0193;Kaviar_AF=0.0084863;Kaviar_AC=1312;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.363203;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81641570 rs72239441 G GAA,GAAA,GAAAA 100 PASS AC=1,19,49;AF=0.0091853,0.115615,0.221046;AN=214;NS=2504;DP=15106;EAS_AF=0.002,0.1121,0.255;AMR_AF=0.0101,0.1311,0.2161;AFR_AF=0.0219,0.171,0.2224;EUR_AF=0.004,0.0636,0.1968;SAS_AF=0.0041,0.0869,0.2127;VT=INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72239441;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0196;ExAC_nontcga_AFR=0.0465;ExAC_nontcga_AMR=0.0244;ExAC_nontcga_EAS=0.0313;ExAC_nontcga_FIN=0.0119;ExAC_nontcga_NFE=0.0157;ExAC_nontcga_OTH=0.0194;ExAC_nontcga_SAS=0.0126;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.115615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4019047;CLNALLELEID=501832;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1060;ExAC_nontcga_AFR=0.1720;ExAC_nontcga_AMR=0.1262;ExAC_nontcga_EAS=0.1397;ExAC_nontcga_FIN=0.0946;ExAC_nontcga_NFE=0.0963;ExAC_nontcga_OTH=0.1;ExAC_nontcga_SAS=0.0796;AF=0.0349;AF_popmax=0.0957;AF_male=0.0372;AF_female=0.0318;AF_raw=0.0281;AF_afr=0.0957;AF_sas=.;AF_amr=0.0084;AF_eas=0.0150;AF_nfe=0.0042;AF_fin=0.0092;AF_asj=0.0042;AF_oth=0.0149;non_topmed_AF_popmax=0.0958;non_neuro_AF_popmax=0.0895;non_cancer_AF_popmax=.;controls_AF_popmax=0.0914;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.221046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4019047;CLNALLELEID=502207;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1260;ExAC_nontcga_AFR=0.1351;ExAC_nontcga_AMR=0.1389;ExAC_nontcga_EAS=0.1206;ExAC_nontcga_FIN=0.0888;ExAC_nontcga_NFE=0.1138;ExAC_nontcga_OTH=0.1452;ExAC_nontcga_SAS=0.1673;AF=0.2660;AF_popmax=0.3386;AF_male=0.2702;AF_female=0.2605;AF_raw=0.2157;AF_afr=0.2902;AF_sas=.;AF_amr=0.3143;AF_eas=0.3386;AF_nfe=0.2423;AF_fin=0.1869;AF_asj=0.3403;AF_oth=0.3006;non_topmed_AF_popmax=0.3378;non_neuro_AF_popmax=0.3386;non_cancer_AF_popmax=.;controls_AF_popmax=0.3402;Kaviar_AF=0.0020246;Kaviar_AC=313;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.093890;ALLELE_END;VINYL_score=-1 GT 3|0 0|0 0|3 3|0 0|0 0|0 0|0 0|3 0|0 0|0 3|2 3|2 0|0 0|0 2|3 0|0 0|0 0|0 2|0 3|0 0|0 0|0 3|0 3|0 3|0 0|0 0|0 0|0 0|3 0|0 0|0 0|0 0|3 0|3 0|3 2|0 0|0 2|3 0|0 0|0 0|0 0|0 3|2 0|3 0|0 0|3 0|0 0|3 0|0 0|3 3|0 3|2 0|3 0|3 0|3 0|3 0|0 3|0 0|3 0|0 0|0 0|3 0|3 0|2 0|0 0|0 0|0 0|0 0|0 0|3 0|0 2|0 0|2 0|0 3|0 0|0 3|0 0|0 3|0 0|0 1|0 0|3 2|3 3|2 0|2 0|0 0|0 3|2 0|0 0|0 2|3 3|0 0|0 0|0 0|0 0|0 3|0 0|3 3|0 0|0 0|3 3|0 3|0 3|0 2|0 0|2 3|2 +7 81641571 rs560674806 A G 100 PASS AC=2;AF=0.00159744;AN=214;NS=2504;DP=14830;EAS_AF=0.003;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0.001;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs560674806;CLNALLELEID=369614;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.022;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0782;ExAC_nontcga_AFR=0.0278;ExAC_nontcga_AMR=0.25;ExAC_nontcga_EAS=0.125;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0645;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.1538;AF=0.0002;AF_popmax=0.0015;AF_male=0.0004;AF_female=0;AF_raw=0.0014;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0015;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0034605;Kaviar_AC=535;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81642949 rs37136 C T 100 PASS AC=102;AF=0.544728;AN=214;NS=2504;DP=9923;EAS_AF=0.4246;AMR_AF=0.4971;AFR_AF=0.8139;EUR_AF=0.4304;SAS_AF=0.456;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.544728;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs37136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4966;AF_popmax=0.7600;AF_male=0.5058;AF_female=0.4850;AF_raw=0.4949;AF_afr=0.7600;AF_sas=.;AF_amr=0.4369;AF_eas=0.3834;AF_nfe=0.3874;AF_fin=0.4009;AF_asj=0.4310;AF_oth=0.4383;non_topmed_AF_popmax=0.7612;non_neuro_AF_popmax=0.7601;non_cancer_AF_popmax=.;controls_AF_popmax=0.7690;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|1 0|0 1|1 1|1 1|0 0|1 1|1 0|1 1|0 0|1 1|0 1|1 0|0 1|0 1|0 1|0 1|0 0|0 1|0 0|0 0|1 0|1 0|1 0|1 0|1 1|1 0|1 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 0|0 1|1 0|0 0|1 0|0 1|1 1|0 1|1 1|1 0|1 1|1 0|1 1|0 1|1 0|1 1|0 0|0 1|1 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 1|0 0|1 0|0 1|0 1|0 1|0 0|0 1|0 0|1 1|0 0|1 1|1 1|1 0|1 0|0 0|0 1|1 0|1 1|0 1|1 1|0 1|0 0|0 0|0 0|0 1|0 0|1 1|0 1|0 0|1 1|0 1|1 1|0 1|0 0|1 1|1 +7 81643813 rs78174406 T C 100 PASS AC=3;AF=0.00359425;AN=214;NS=2504;DP=17010;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78174406;CLNALLELEID=501835;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0079;ExAC_nontcga_ALL=0.0047;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0069;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0026;AF=0.0049;AF_popmax=0.0142;AF_male=0.0050;AF_female=0.0048;AF_raw=0.0049;AF_afr=0.0015;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0071;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0074;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0144;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0054656;Kaviar_AC=845;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +7 81643836 rs145015419 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16608;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145015419;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.454e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81667468 rs2229952 C T 100 PASS AC=8;AF=0.019369;AN=214;NS=2504;DP=16047;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0015;EUR_AF=0.0577;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon11:c.G963A:p.A321A;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2229952;CLNALLELEID=252943;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0448;ExAC_nontcga_ALL=0.0377;ExAC_nontcga_AFR=0.0060;ExAC_nontcga_AMR=0.0226;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0693;ExAC_nontcga_NFE=0.0500;ExAC_nontcga_OTH=0.0533;ExAC_nontcga_SAS=0.0292;AF=0.0442;AF_popmax=0.0621;AF_male=0.0412;AF_female=0.0481;AF_raw=0.0442;AF_afr=0.0077;AF_sas=.;AF_amr=0.0259;AF_eas=0;AF_nfe=0.0621;AF_fin=0.0754;AF_asj=0.0586;AF_oth=0.0579;non_topmed_AF_popmax=0.0689;non_neuro_AF_popmax=0.0626;non_cancer_AF_popmax=.;controls_AF_popmax=0.0874;Kaviar_AF=0.0372958;Kaviar_AC=5766;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.997462;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81667579 rs150571440 A G 100 PASS AC=3;AF=0.00239617;AN=214;NS=2504;DP=17993;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.007;SAS_AF=0.0051;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs150571440;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0063;ExAC_nontcga_ALL=0.0039;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0049;AF=0.0036;AF_popmax=0.0059;AF_male=0.0031;AF_female=0.0041;AF_raw=0.0036;AF_afr=0.0011;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0059;AF_fin=0.0012;AF_asj=0;AF_oth=0.0055;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0059;non_cancer_AF_popmax=.;controls_AF_popmax=0.0056;Kaviar_AF=0.0039456;Kaviar_AC=610;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.251529;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81689726 rs544590655 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8773;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs544590655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.518e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.856e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.457519;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81693768 rs73703113 T C 100 PASS AC=29;AF=0.091853;AN=214;NS=2504;DP=15968;EAS_AF=0.0893;AMR_AF=0.0533;AFR_AF=0.112;EUR_AF=0.0865;SAS_AF=0.1002;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73703113;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0838;AF_popmax=0.1146;AF_male=0.0870;AF_female=0.0797;AF_raw=0.0842;AF_afr=0.1146;AF_sas=.;AF_amr=0.0652;AF_eas=0.1033;AF_nfe=0.0763;AF_fin=0.0343;AF_asj=0.1034;AF_oth=0.0820;non_topmed_AF_popmax=0.1152;non_neuro_AF_popmax=0.1173;non_cancer_AF_popmax=.;controls_AF_popmax=0.1160;Kaviar_AF=0.0813355;Kaviar_AC=2117;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 +7 81695859 rs200166451 G A 100 PASS AC=4;AF=0.0071885;AN=214;NS=2504;DP=11860;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0076;EUR_AF=0.0149;SAS_AF=0.0072;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200166451;CLNALLELEID=502210;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.702e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.72e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0007;AF_popmax=0.0010;AF_male=0.0008;AF_female=0.0005;AF_raw=0.0018;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0010;AF_fin=0;AF_asj=0;AF_oth=0.0036;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81746295 rs75609676 A G 100 PASS AC=1;AF=0.00279553;AN=214;NS=2504;DP=18618;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.0109;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75609676;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0068;AF_popmax=0.0083;AF_male=0.0061;AF_female=0.0077;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0083;AF_fin=0.0176;AF_asj=0.0069;AF_oth=0.0064;non_topmed_AF_popmax=0.0079;non_neuro_AF_popmax=0.0087;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0014877;Kaviar_AC=230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81765930 rs374890738 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=16164;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374890738;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.189e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.778474;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81765996 rs531314472 C CA 100 PASS AC=20;AF=0.125399;AN=214;NS=2504;DP=15822;EAS_AF=0.0952;AMR_AF=0.1037;AFR_AF=0.1899;EUR_AF=0.0845;SAS_AF=0.1268;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.125399;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142849270;CLNALLELEID=212618;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0985;ExAC_nontcga_ALL=0.1582;ExAC_nontcga_AFR=0.1990;ExAC_nontcga_AMR=0.2052;ExAC_nontcga_EAS=0.2029;ExAC_nontcga_FIN=0.0948;ExAC_nontcga_NFE=0.1506;ExAC_nontcga_OTH=0.1732;ExAC_nontcga_SAS=0.1385;AF=0.1120;AF_popmax=0.1635;AF_male=0.1122;AF_female=0.1117;AF_raw=0.0929;AF_afr=0.1635;AF_sas=.;AF_amr=0.1422;AF_eas=0.1111;AF_nfe=0.0816;AF_fin=0.1029;AF_asj=0.12;AF_oth=0.0979;non_topmed_AF_popmax=0.1647;non_neuro_AF_popmax=0.1710;non_cancer_AF_popmax=.;controls_AF_popmax=0.1731;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.319391;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 +7 81765997 rs550978407 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15619;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs550978407;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0077;dbscSNV_RF_SCORE=0.164;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.319391;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799966 rs17155967 G A 100 PASS AC=4;AF=0.0139776;AN=214;NS=2504;DP=15389;EAS_AF=0;AMR_AF=0.0202;AFR_AF=0.0219;EUR_AF=0.0159;SAS_AF=0.0112;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17155967;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0274;ExAC_nontcga_ALL=0.0185;ExAC_nontcga_AFR=0.0292;ExAC_nontcga_AMR=0.0132;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0138;ExAC_nontcga_NFE=0.0239;ExAC_nontcga_OTH=0.0347;ExAC_nontcga_SAS=0.0083;AF=0.0217;AF_popmax=0.0310;AF_male=0.0218;AF_female=0.0215;AF_raw=0.0216;AF_afr=0.0310;AF_sas=.;AF_amr=0.0154;AF_eas=0;AF_nfe=0.0219;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0175;non_topmed_AF_popmax=0.0308;non_neuro_AF_popmax=0.0272;non_cancer_AF_popmax=.;controls_AF_popmax=0.0268;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799990 rs73705856 T C 100 PASS AC=4;AF=0.0609026;AN=214;NS=2504;DP=15621;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.1952;EUR_AF=0.0159;SAS_AF=0.0112;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73705856;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0292;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0583;AF_popmax=0.1617;AF_male=0.0609;AF_female=0.0551;AF_raw=0.0589;AF_afr=0.1617;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0258;non_topmed_AF_popmax=0.1609;non_neuro_AF_popmax=0.1566;non_cancer_AF_popmax=.;controls_AF_popmax=0.1562;Kaviar_AF=0.0062224;Kaviar_AC=962;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.829055;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81799996 rs73387972 C G 100 PASS AC=4;AF=0.0609026;AN=214;NS=2504;DP=15644;EAS_AF=0;AMR_AF=0.0288;AFR_AF=0.1952;EUR_AF=0.0159;SAS_AF=0.0112;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0609026;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73387972;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0289;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0585;AF_popmax=0.1621;AF_male=0.0610;AF_female=0.0553;AF_raw=0.0589;AF_afr=0.1621;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0220;AF_fin=0.0098;AF_asj=0.0207;AF_oth=0.0258;non_topmed_AF_popmax=0.1614;non_neuro_AF_popmax=0.1575;non_cancer_AF_popmax=.;controls_AF_popmax=0.1571;Kaviar_AF=0.0062354;Kaviar_AC=964;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.778723;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81800028 rs529733358 CAGA C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16563;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs529733358;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0008;AF_male=0.0006;AF_female=0.0002;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0008;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 81964578 rs5885290 G GA 100 PASS AC=50;AF=0.16254;AN=214;NS=2504;DP=14640;EAS_AF=0.1002;AMR_AF=0.2363;AFR_AF=0.0386;EUR_AF=0.1978;SAS_AF=0.3057;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.16254;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5885290;CLNALLELEID=502212;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2010;ExAC_nontcga_ALL=0.2105;ExAC_nontcga_AFR=0.0557;ExAC_nontcga_AMR=0.3128;ExAC_nontcga_EAS=0.0925;ExAC_nontcga_FIN=0.1461;ExAC_nontcga_NFE=0.2131;ExAC_nontcga_OTH=0.1772;ExAC_nontcga_SAS=0.2966;AF=0.1592;AF_popmax=0.2669;AF_male=0.1573;AF_female=0.1616;AF_raw=0.1461;AF_afr=0.0535;AF_sas=.;AF_amr=0.2669;AF_eas=0.0889;AF_nfe=0.2173;AF_fin=0.1740;AF_asj=0.1641;AF_oth=0.2047;non_topmed_AF_popmax=0.2692;non_neuro_AF_popmax=0.2573;non_cancer_AF_popmax=.;controls_AF_popmax=0.2912;Kaviar_AF=0.0050129;Kaviar_AC=775;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.296986;ALLELE_END;VINYL_score=-1 GT 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 +7 81964649 rs12056126 T G 100 PASS AC=3;AF=0.0385383;AN=214;NS=2504;DP=16701;EAS_AF=0.0813;AMR_AF=0.1095;AFR_AF=0.0053;EUR_AF=0.0119;SAS_AF=0.0164;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0385383;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12056126;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0186;AF_popmax=0.1185;AF_male=0.0189;AF_female=0.0181;AF_raw=0.0186;AF_afr=0.0094;AF_sas=.;AF_amr=0.1185;AF_eas=0.1058;AF_nfe=0.0112;AF_fin=0.0104;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.1191;non_neuro_AF_popmax=0.1123;non_cancer_AF_popmax=.;controls_AF_popmax=0.1341;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 82072789 rs202040993 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=8636;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CACNA2D1;GeneDetail.refGene=NM_000722:c.-14C>T\x3bNM_001302890:c.-14C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202040993;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000214488|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1901533|N/A|STAT1|PAZAR,OREG1511098|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.501598;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91603004 rs10264979 G A 100 PASS AC=1;AF=0.0225639;AN=214;NS=2504;DP=11103;EAS_AF=0.001;AMR_AF=0.0058;AFR_AF=0.0802;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0225639;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10264979;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.289;DANN_score=0.635;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_rankscore=0.084;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=n;Eigen-raw=0.184;Eigen-PC-raw=-0.140;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.295;integrated_fitCons_score_rankscore=0.044;integrated_confidence_value=0;GERP++_RS=1.63;GERP++_RS_rankscore=0.228;phyloP100way_vertebrate=0.141;phyloP100way_vertebrate_rankscore=0.158;phyloP20way_mammalian=0.090;phyloP20way_mammalian_rankscore=0.195;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=3.795;SiPhy_29way_logOdds_rankscore=0.082;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0084;ExAC_nontcga_AFR=0.0992;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0228;AF_popmax=0.0808;AF_male=0.0237;AF_female=0.0216;AF_raw=0.0227;AF_afr=0.0808;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0798;non_neuro_AF_popmax=0.0768;non_cancer_AF_popmax=.;controls_AF_popmax=0.0766;Kaviar_AF=0.0067205;Kaviar_AC=1039;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91603115 rs35669569 C T 100 PASS AC=2;AF=0.00219649;AN=214;NS=2504;DP=18980;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0008;EUR_AF=0.008;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon2:c.C139T:p.H47Y,AKAP9:NM_147185:exon2:c.C139T:p.H47Y;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35669569;CLNALLELEID=189264;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.23;SIFT_converted_rankscore=0.326;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.462;LRT_converted_rankscore=0.124;LRT_pred=N;MutationTaster_score=0.977;MutationTaster_converted_rankscore=0.253;MutationTaster_pred=N;MutationAssessor_score=1.52;MutationAssessor_score_rankscore=0.385;MutationAssessor_pred=L;FATHMM_score=2.57;FATHMM_converted_rankscore=0.641;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.483;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.052;MetaSVM_score=-1.027;MetaSVM_rankscore=0.215;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.344;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.054;REVEL_rankscore=0.157;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.115;CADD_raw_rankscore=0.028;CADD_phred=0.009;DANN_score=0.666;DANN_rankscore=0.079;fathmm-MKL_coding_score=0.553;fathmm-MKL_coding_rankscore=0.296;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.721;Eigen-PC-raw=-0.655;GenoCanyon_score=0.007;GenoCanyon_score_rankscore=0.114;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=0.478;GERP++_RS_rankscore=0.159;phyloP100way_vertebrate=0.932;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=0.055;phyloP20way_mammalian_rankscore=0.163;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.938;phastCons20way_mammalian_rankscore=0.411;SiPhy_29way_logOdds=0.731;SiPhy_29way_logOdds_rankscore=0.009;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0140;ExAC_nontcga_ALL=0.0081;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0141;ExAC_nontcga_NFE=0.0134;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0004;AF=0.0082;AF_popmax=0.0108;AF_male=0.0076;AF_female=0.0088;AF_raw=0.0082;AF_afr=0.0024;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0108;AF_fin=0.0179;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0104;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0073;Kaviar_AF=0.0083958;Kaviar_AC=1298;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.979146;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91622187 rs200448722 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16026;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200448722;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0062;dbscSNV_RF_SCORE=0.196;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.846e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.924e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.607315;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630330 rs138161478 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18199;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1099A:p.V367M,AKAP9:NM_147185:exon8:c.G1099A:p.V367M;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138161478;CLNALLELEID=178585;CLNDN=Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.019;SIFT_converted_rankscore=0.501;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.326;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=1.4;FATHMM_converted_rankscore=0.336;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.030;MetaSVM_score=-1.034;MetaSVM_rankscore=0.193;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_rankscore=0.251;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.183;M-CAP_pred=T;REVEL_score=0.055;REVEL_rankscore=0.161;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.799;CADD_raw_rankscore=0.040;CADD_phred=0.043;DANN_score=0.481;DANN_rankscore=0.039;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_rankscore=0.163;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.056;Eigen-PC-raw=-1.044;GenoCanyon_score=0.016;GenoCanyon_score_rankscore=0.128;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.06;GERP++_RS_rankscore=0.094;phyloP100way_vertebrate=-0.108;phyloP100way_vertebrate_rankscore=0.107;phyloP20way_mammalian=-0.709;phyloP20way_mammalian_rankscore=0.037;phastCons100way_vertebrate=0.027;phastCons100way_vertebrate_rankscore=0.200;phastCons20way_mammalian=0.093;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=1.778;SiPhy_29way_logOdds_rankscore=0.028;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0002;AF_popmax=0.0003;AF_male=0.0003;AF_female=7.196e-05;AF_raw=0.0002;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.721270;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +7 91630532 rs60031334 G A 100 PASS AC=1;AF=0.0177716;AN=214;NS=2504;DP=19703;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0.0628;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1301A:p.R434Q,AKAP9:NM_147185:exon8:c.G1301A:p.R434Q;1000g2015aug_all=0.0177716;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs60031334;CLNALLELEID=189267;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.466;SIFT_converted_rankscore=0.086;SIFT_pred=T;Polyphen2_HDIV_score=0.954;Polyphen2_HDIV_rankscore=0.556;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.166;Polyphen2_HVAR_rankscore=0.398;Polyphen2_HVAR_pred=B;LRT_score=0.040;LRT_converted_rankscore=0.240;LRT_pred=N;MutationTaster_score=0.575;MutationTaster_converted_rankscore=0.311;MutationTaster_pred=N;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=3.53;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-1.0;PROVEAN_converted_rankscore=0.264;PROVEAN_pred=N;VEST3_score=0.041;VEST3_rankscore=0.051;MetaSVM_score=-1.010;MetaSVM_rankscore=0.270;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.003;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.091;REVEL_rankscore=0.269;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.698;CADD_raw_rankscore=0.385;CADD_phred=20.8;DANN_score=0.980;DANN_rankscore=0.368;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.570;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.131;Eigen-PC-raw=-0.006;GenoCanyon_score=0.519;GenoCanyon_score_rankscore=0.211;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.59;GERP++_RS_rankscore=0.401;phyloP100way_vertebrate=3.911;phyloP100way_vertebrate_rankscore=0.558;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=9.433;SiPhy_29way_logOdds_rankscore=0.376;Interpro_domain=ELK_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0392;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.551e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=0.0116;AF_popmax=0.0413;AF_male=0.0121;AF_female=0.0110;AF_raw=0.0116;AF_afr=0.0413;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0413;non_neuro_AF_popmax=0.0428;non_cancer_AF_popmax=.;controls_AF_popmax=0.0405;Kaviar_AF=0.0036157;Kaviar_AC=559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.144111;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630565 rs147302252 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20771;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.T1334C:p.I445T,AKAP9:NM_147185:exon8:c.T1334C:p.I445T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147302252;CLNALLELEID=457523;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.466;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_score_rankscore=0.743;MutationAssessor_pred=M;FATHMM_score=2.84;FATHMM_converted_rankscore=0.107;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.642;VEST3_rankscore=0.658;MetaSVM_score=-1.150;MetaSVM_rankscore=0.010;MetaSVM_pred=T;MetaLR_score=0.077;MetaLR_rankscore=0.308;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.440;M-CAP_pred=T;REVEL_score=0.241;REVEL_rankscore=0.551;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.893;CADD_raw_rankscore=0.657;CADD_phred=24.9;DANN_score=0.992;DANN_rankscore=0.554;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.916;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.738;Eigen-PC-raw=0.727;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.41;GERP++_RS_rankscore=0.782;phyloP100way_vertebrate=7.925;phyloP100way_vertebrate_rankscore=0.869;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.748;SiPhy_29way_logOdds_rankscore=0.776;Interpro_domain=ELK_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=8.513e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=7.187e-05;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.294499;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91630620 rs6964587 G T 100 PASS AC=86;AF=0.372204;AN=214;NS=2504;DP=21441;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5023;EUR_AF=0.3867;SAS_AF=0.409;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1389T:p.M463I,AKAP9:NM_147185:exon8:c.G1389T:p.M463I;1000g2015aug_all=0.372204;GWAS=rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625;ORegAnno_REGULATORY_P=rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625;avsnp150=rs6964587;CLNALLELEID=140050;CLNDN=Long_QT_syndrome|Colorectal_cancer|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1527249|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.064;SIFT_converted_rankscore=0.365;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.166;LRT_converted_rankscore=0.175;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=3.93;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_converted_rankscore=0.197;PROVEAN_pred=N;VEST3_score=0.019;VEST3_rankscore=0.024;MetaSVM_score=-0.965;MetaSVM_rankscore=0.383;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.375;CADD_raw_rankscore=0.063;CADD_phred=0.443;DANN_score=0.371;DANN_rankscore=0.024;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.427;Eigen-PC-raw=-1.414;GenoCanyon_score=0.045;GenoCanyon_score_rankscore=0.146;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-3.46;GERP++_RS_rankscore=0.044;phyloP100way_vertebrate=0.232;phyloP100way_vertebrate_rankscore=0.175;phyloP20way_mammalian=-1.629;phyloP20way_mammalian_rankscore=0.009;phastCons100way_vertebrate=0.307;phastCons100way_vertebrate_rankscore=0.252;phastCons20way_mammalian=0.045;phastCons20way_mammalian_rankscore=0.161;SiPhy_29way_logOdds=13.89;SiPhy_29way_logOdds_rankscore=0.631;Interpro_domain=ELK_domain;GTEx_V6p_gene=ENSG00000127914.12|ENSG00000001630.11|ENSG00000240720.3|ENSG00000127914.12|ENSG00000001630.11|ENSG00000188693.7|ENSG00000240720.3|ENSG00000127914.12;GTEx_V6p_tissue=Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis|Testis|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4030;ExAC_nontcga_ALL=0.3807;ExAC_nontcga_AFR=0.5094;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.1737;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.4005;ExAC_nontcga_OTH=0.4032;ExAC_nontcga_SAS=0.3925;AF=0.4046;AF_popmax=0.5071;AF_male=0.4067;AF_female=0.4019;AF_raw=0.4046;AF_afr=0.5071;AF_sas=.;AF_amr=0.3282;AF_eas=0.1759;AF_nfe=0.3794;AF_fin=0.3754;AF_asj=0.5276;AF_oth=0.3886;non_topmed_AF_popmax=0.5069;non_neuro_AF_popmax=0.5039;non_cancer_AF_popmax=.;controls_AF_popmax=0.5043;Kaviar_AF=0.37713;Kaviar_AC=58305;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.248874;ALLELE_END;VINYL_score=2.5 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91632306 rs1989779 C T 100 PASS AC=185;AF=0.935903;AN=214;NS=2504;DP=19914;EAS_AF=0.9673;AMR_AF=0.9409;AFR_AF=0.9894;EUR_AF=0.8787;SAS_AF=0.8865;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T;1000g2015aug_all=0.935903;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1989779;CLNALLELEID=140052;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8727;ExAC_nontcga_ALL=0.8948;ExAC_nontcga_AFR=0.9759;ExAC_nontcga_AMR=0.9451;ExAC_nontcga_EAS=0.9784;ExAC_nontcga_FIN=0.8467;ExAC_nontcga_NFE=0.8662;ExAC_nontcga_OTH=0.8890;ExAC_nontcga_SAS=0.8897;AF=0.8909;AF_popmax=0.9734;AF_male=0.8940;AF_female=0.8869;AF_raw=0.8907;AF_afr=0.9734;AF_sas=.;AF_amr=0.9244;AF_eas=0.9731;AF_nfe=0.8487;AF_fin=0.8356;AF_asj=0.8586;AF_oth=0.8690;non_topmed_AF_popmax=0.9734;non_neuro_AF_popmax=0.9731;non_cancer_AF_popmax=.;controls_AF_popmax=0.9771;Kaviar_AF=0.881858;Kaviar_AC=136337;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.909585;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|1 1|1 0|1 1|1 0|1 1|1 0|1 1|1 1|1 1|1 1|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|0 1|0 1|0 1|1 1|1 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|0 0|1 1|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 91641682 rs149368215 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=17357;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149368215;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0006;AF_popmax=0.0006;AF_male=0.0008;AF_female=0.0003;AF_raw=0.0006;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91641714 rs369837372 T C 100 PASS AC=1;AF=0.00319489;AN=214;NS=2504;DP=16966;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0153;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369837372;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0049;ExAC_nontcga_SAS=0.0186;AF=9.556e-05;AF_popmax=6.483e-05;AF_male=5.723e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0020698;Kaviar_AC=320;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +7 91641928 rs13245393 A G 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=18366;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon9:c.A3504G:p.E1168E,AKAP9:NM_147185:exon9:c.A3504G:p.E1168E;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13245393;CLNALLELEID=140053;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3815;ExAC_nontcga_AFR=0.5154;ExAC_nontcga_AMR=0.3045;ExAC_nontcga_EAS=0.1746;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.4006;ExAC_nontcga_OTH=0.4035;ExAC_nontcga_SAS=0.3936;AF=0.4058;AF_popmax=0.5120;AF_male=0.4081;AF_female=0.4029;AF_raw=0.4059;AF_afr=0.5120;AF_sas=.;AF_amr=0.3267;AF_eas=0.1754;AF_nfe=0.3792;AF_fin=0.3756;AF_asj=0.5243;AF_oth=0.3902;non_topmed_AF_popmax=0.5121;non_neuro_AF_popmax=0.5077;non_cancer_AF_popmax=.;controls_AF_popmax=0.5097;Kaviar_AF=0.378158;Kaviar_AC=58464;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.016230;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91643488 rs570971197 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17895;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs570971197;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91646406 rs146797353 G A 100 PASS AC=3;AF=0.0109824;AN=214;NS=2504;DP=16165;EAS_AF=0.0208;AMR_AF=0.0029;AFR_AF=0.0076;EUR_AF=0.004;SAS_AF=0.0184;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon12:c.G3827A:p.R1276Q,AKAP9:NM_147185:exon12:c.G3827A:p.R1276Q;1000g2015aug_all=0.0109824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146797353;CLNALLELEID=189273;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.596;SIFT_converted_rankscore=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.364;LRT_converted_rankscore=0.136;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.64;MutationAssessor_score_rankscore=0.161;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_converted_rankscore=0.075;PROVEAN_pred=N;VEST3_score=0.093;VEST3_rankscore=0.121;MetaSVM_score=-0.904;MetaSVM_rankscore=0.476;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_rankscore=0.010;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.014;REVEL_rankscore=0.021;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.354;CADD_raw_rankscore=0.128;CADD_phred=6.202;DANN_score=0.463;DANN_rankscore=0.036;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.068;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.215;Eigen-PC-raw=-1.230;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.070;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.87;GERP++_RS_rankscore=0.073;phyloP100way_vertebrate=0.541;phyloP100way_vertebrate_rankscore=0.227;phyloP20way_mammalian=0.127;phyloP20way_mammalian_rankscore=0.214;phastCons100way_vertebrate=0.294;phastCons100way_vertebrate_rankscore=0.250;phastCons20way_mammalian=0.955;phastCons20way_mammalian_rankscore=0.433;SiPhy_29way_logOdds=9.146;SiPhy_29way_logOdds_rankscore=0.359;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0.0374;ExAC_nontcga_FIN=0.0025;ExAC_nontcga_NFE=0.0179;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0229;AF=0.0058;AF_popmax=0.0244;AF_male=0.0056;AF_female=0.0060;AF_raw=0.0058;AF_afr=0.0022;AF_sas=.;AF_amr=0.0047;AF_eas=0.0244;AF_nfe=0.0064;AF_fin=0.0035;AF_asj=0.0138;AF_oth=0.0046;non_topmed_AF_popmax=0.0243;non_neuro_AF_popmax=0.0244;non_cancer_AF_popmax=.;controls_AF_popmax=0.0284;Kaviar_AF=0.0086739;Kaviar_AC=1341;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.284450;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91652178 rs10644111 A AAAC 100 PASS AC=86;AF=0.42472;AN=214;NS=2504;DP=15358;EAS_AF=0.1825;AMR_AF=0.3689;AFR_AF=0.6657;EUR_AF=0.3867;SAS_AF=0.4274;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=AKAP9:NM_005751:exon14:c.4003_4004insAAC:p.K1335delinsKQ,AKAP9:NM_147185:exon14:c.4003_4004insAAC:p.K1335delinsKQ;1000g2015aug_all=0.42472;GWAS=rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683;ORegAnno_REGULATORY_P=rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683;avsnp150=rs10644111;CLNALLELEID=188441;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3973;ExAC_nontcga_AFR=0.6336;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.2000;ExAC_nontcga_FIN=0.3847;ExAC_nontcga_NFE=0.4012;ExAC_nontcga_OTH=0.4096;ExAC_nontcga_SAS=0.4112;AF=0.4382;AF_popmax=0.6277;AF_male=0.4423;AF_female=0.4331;AF_raw=0.4394;AF_afr=0.6277;AF_sas=.;AF_amr=0.3322;AF_eas=0.1983;AF_nfe=0.3774;AF_fin=0.3742;AF_asj=0.5241;AF_oth=0.3963;non_topmed_AF_popmax=0.6277;non_neuro_AF_popmax=0.6222;non_cancer_AF_popmax=.;controls_AF_popmax=0.6204;Kaviar_AF=0.0116816;Kaviar_AC=1806;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1655788|N/A|FOXA1|PAZAR,OREG1597449|N/A|FOXA1|PAZAR,OREG1689839|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.988638;ALLELE_END;VINYL_score=2 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91659150 rs17164315 C G 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=16874;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17164315;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4065;AF_popmax=0.5128;AF_male=0.4087;AF_female=0.4038;AF_raw=0.4059;AF_afr=0.5128;AF_sas=.;AF_amr=0.3267;AF_eas=0.1765;AF_nfe=0.3802;AF_fin=0.3753;AF_asj=0.5276;AF_oth=0.3890;non_topmed_AF_popmax=0.5127;non_neuro_AF_popmax=0.5086;non_cancer_AF_popmax=.;controls_AF_popmax=0.5098;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91660820 rs192046591 A T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16297;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs192046591;CLNALLELEID=522903;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0002;dbscSNV_RF_SCORE=0.048;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0012;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.856765;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91667692 rs2285333 T G 100 PASS AC=86;AF=0.359625;AN=214;NS=2504;DP=16414;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.4554;EUR_AF=0.3857;SAS_AF=0.41;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.359625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2285333;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3989;ExAC_nontcga_ALL=0.3896;ExAC_nontcga_AFR=0.4908;ExAC_nontcga_AMR=0.3097;ExAC_nontcga_EAS=0.1847;ExAC_nontcga_FIN=0.3905;ExAC_nontcga_NFE=0.4168;ExAC_nontcga_OTH=0.4110;ExAC_nontcga_SAS=0.4006;AF=0.3901;AF_popmax=0.4582;AF_male=0.3921;AF_female=0.3876;AF_raw=0.3905;AF_afr=0.4582;AF_sas=.;AF_amr=0.3187;AF_eas=0.1765;AF_nfe=0.3784;AF_fin=0.3755;AF_asj=0.5276;AF_oth=0.3824;non_topmed_AF_popmax=0.4584;non_neuro_AF_popmax=0.4514;non_cancer_AF_popmax=.;controls_AF_popmax=0.4477;Kaviar_AF=0.36418;Kaviar_AC=56303;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.327682;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91669950 rs75429390 T C 100 PASS AC=1;AF=0.0091853;AN=214;NS=2504;DP=14503;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0257;EUR_AF=0.008;SAS_AF=0.002;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75429390;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0085;ExAC_nontcga_AFR=0.0267;ExAC_nontcga_AMR=0.0038;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0096;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0077;ExAC_nontcga_SAS=0.0015;AF=0.0154;AF_popmax=0.0194;AF_male=0.0149;AF_female=0.0161;AF_raw=0.0155;AF_afr=0.0194;AF_sas=.;AF_amr=0.0038;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0084;AF_asj=0.0140;AF_oth=0.0079;non_topmed_AF_popmax=0.0204;non_neuro_AF_popmax=0.0194;non_cancer_AF_popmax=.;controls_AF_popmax=0.0302;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91669960 rs571637141 GT G 100 PASS AC=87;AF=0.398363;AN=214;NS=2504;DP=15750;EAS_AF=0.4187;AMR_AF=0.402;AFR_AF=0.3744;EUR_AF=0.4175;SAS_AF=0.3875;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.398363;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs786205706;CLNALLELEID=188443;CLNDN=Cardiac_arrhythmia;CLNDISDB=MedGen:C0003811,OMIM:115000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2648;ExAC_nontcga_AFR=0.2556;ExAC_nontcga_AMR=0.2862;ExAC_nontcga_EAS=0.2632;ExAC_nontcga_FIN=0.3653;ExAC_nontcga_NFE=0.2608;ExAC_nontcga_OTH=0.2778;ExAC_nontcga_SAS=0.2483;AF=0.0051;AF_popmax=0.0203;AF_male=0.0049;AF_female=0.0054;AF_raw=0.0101;AF_afr=0.0014;AF_sas=.;AF_amr=0.0203;AF_eas=0.0007;AF_nfe=0.0046;AF_fin=0.0391;AF_asj=0.0045;AF_oth=0.0161;non_topmed_AF_popmax=0.0220;non_neuro_AF_popmax=0.0110;non_cancer_AF_popmax=.;controls_AF_popmax=0.0571;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 1|0 1|1 0|0 0|0 1|0 1|0 0|1 1|0 0|0 1|0 0|0 1|0 0|1 1|0 0|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|0 0|0 1|0 0|1 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|1 1|0 1|0 1|0 1|0 0|1 1|0 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|1 1|0 1|1 0|0 0|1 0|1 1|0 1|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 1|0 0|1 1|0 0|1 0|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 0|1 1|0 1|0 +7 91672166 rs182680258 T C 100 PASS AC=4;AF=0.00738818;AN=214;NS=2504;DP=15683;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0015;EUR_AF=0.0089;SAS_AF=0.0225;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00738818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182680258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0051;AF_popmax=0.0118;AF_male=0.0051;AF_female=0.0050;AF_raw=0.0051;AF_afr=0.0015;AF_sas=.;AF_amr=0.0118;AF_eas=0;AF_nfe=0.0075;AF_fin=0.0012;AF_asj=0.0414;AF_oth=0.0046;non_topmed_AF_popmax=0.0111;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1271108|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.540475;ALLELE_END;VINYL_score=8 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91674302 rs9785013 G A 100 PASS AC=86;AF=0.428514;AN=214;NS=2504;DP=17941;EAS_AF=0.1825;AMR_AF=0.3689;AFR_AF=0.6793;EUR_AF=0.3877;SAS_AF=0.4274;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428514;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs9785013;CLNALLELEID=140034;CLNDN=Long_QT_syndrome_11|not_specified;CLNDISDB=MedGen:C2678483,OMIM:611820|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3978;ExAC_nontcga_AFR=0.6474;ExAC_nontcga_AMR=0.3110;ExAC_nontcga_EAS=0.1985;ExAC_nontcga_FIN=0.3860;ExAC_nontcga_NFE=0.4013;ExAC_nontcga_OTH=0.4061;ExAC_nontcga_SAS=0.4101;AF=0.4438;AF_popmax=0.6421;AF_male=0.4477;AF_female=0.4388;AF_raw=0.4436;AF_afr=0.6421;AF_sas=.;AF_amr=0.3341;AF_eas=0.1991;AF_nfe=0.3793;AF_fin=0.3753;AF_asj=0.5276;AF_oth=0.4006;non_topmed_AF_popmax=0.6424;non_neuro_AF_popmax=0.6382;non_cancer_AF_popmax=.;controls_AF_popmax=0.6352;Kaviar_AF=0.388947;Kaviar_AC=60132;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.135103;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91691601 rs10236397 C T 100 PASS AC=86;AF=0.359824;AN=214;NS=2504;DP=17846;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.4561;EUR_AF=0.3857;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon24:c.C5778T:p.G1926G,AKAP9:NM_147185:exon24:c.C5778T:p.G1926G;1000g2015aug_all=0.359824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10236397;CLNALLELEID=140036;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4031;ExAC_nontcga_ALL=0.3776;ExAC_nontcga_AFR=0.4738;ExAC_nontcga_AMR=0.3031;ExAC_nontcga_EAS=0.1740;ExAC_nontcga_FIN=0.3859;ExAC_nontcga_NFE=0.4006;ExAC_nontcga_OTH=0.4032;ExAC_nontcga_SAS=0.3932;AF=0.3906;AF_popmax=0.4591;AF_male=0.3928;AF_female=0.3879;AF_raw=0.3906;AF_afr=0.4591;AF_sas=.;AF_amr=0.3238;AF_eas=0.1765;AF_nfe=0.3787;AF_fin=0.3757;AF_asj=0.5276;AF_oth=0.3810;non_topmed_AF_popmax=0.4593;non_neuro_AF_popmax=0.4527;non_cancer_AF_popmax=.;controls_AF_popmax=0.4487;Kaviar_AF=0.3694;Kaviar_AC=57110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.418209;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91706252 rs147194783 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=12595;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon29:c.A6696G:p.Q2232Q,AKAP9:NM_147185:exon29:c.A6672G:p.Q2224Q;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147194783;CLNALLELEID=258503;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0035;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0007115;Kaviar_AC=110;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1655784|N/A|FOXA1|PAZAR,OREG1597448|N/A|FOXA1|PAZAR,OREG1689838|N/A|GATA3|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.223680;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91707197 rs733957 C T 100 PASS AC=86;AF=0.36242;AN=214;NS=2504;DP=14601;EAS_AF=0.1617;AMR_AF=0.3559;AFR_AF=0.466;EUR_AF=0.3857;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.36242;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs733957;CLNALLELEID=140038;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.4004;ExAC_nontcga_ALL=0.4068;ExAC_nontcga_AFR=0.4951;ExAC_nontcga_AMR=0.3390;ExAC_nontcga_EAS=0.2118;ExAC_nontcga_FIN=0.4016;ExAC_nontcga_NFE=0.4315;ExAC_nontcga_OTH=0.4238;ExAC_nontcga_SAS=0.4052;AF=0.3929;AF_popmax=0.4662;AF_male=0.3947;AF_female=0.3906;AF_raw=0.3926;AF_afr=0.4662;AF_sas=.;AF_amr=0.3235;AF_eas=0.1757;AF_nfe=0.3795;AF_fin=0.3749;AF_asj=0.5243;AF_oth=0.3819;non_topmed_AF_popmax=0.4665;non_neuro_AF_popmax=0.4606;non_cancer_AF_popmax=.;controls_AF_popmax=0.4567;Kaviar_AF=0.0001746;Kaviar_AC=27;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.037291;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91708722 rs61757672 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=20880;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.G7275A:p.Q2425Q,AKAP9:NM_147185:exon31:c.G7251A:p.Q2417Q;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61757672;CLNALLELEID=140040;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0047;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0039;ExAC_nontcga_OTH=0.0130;ExAC_nontcga_SAS=0.0020;AF=0.0028;AF_popmax=0.0043;AF_male=0.0024;AF_female=0.0034;AF_raw=0.0028;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0043;AF_fin=0.0017;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0046;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0029236;Kaviar_AC=452;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.807394;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91708898 rs35759833 A G 100 PASS AC=31;AF=0.0654952;AN=214;NS=2504;DP=19752;EAS_AF=0.0327;AMR_AF=0.0605;AFR_AF=0.0136;EUR_AF=0.1252;SAS_AF=0.1115;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.A7451G:p.K2484R,AKAP9:NM_147185:exon31:c.A7427G:p.K2476R;1000g2015aug_all=0.0654952;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35759833;CLNALLELEID=140041;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.552;SIFT_converted_rankscore=0.067;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.242;LRT_converted_rankscore=0.036;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.455;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=4.04;FATHMM_converted_rankscore=0.034;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.009;MetaSVM_score=-0.927;MetaSVM_rankscore=0.446;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.007;REVEL_rankscore=0.005;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.816;CADD_raw_rankscore=0.011;CADD_phred=0.002;DANN_score=0.389;DANN_rankscore=0.026;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_rankscore=0.095;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.706;Eigen-PC-raw=-1.795;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.327;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-8.74;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=-0.723;phyloP100way_vertebrate_rankscore=0.050;phyloP20way_mammalian=-0.629;phyloP20way_mammalian_rankscore=0.042;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.265;SiPhy_29way_logOdds_rankscore=0.148;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1273;ExAC_nontcga_ALL=0.1064;ExAC_nontcga_AFR=0.0276;ExAC_nontcga_AMR=0.0550;ExAC_nontcga_EAS=0.0220;ExAC_nontcga_FIN=0.1540;ExAC_nontcga_NFE=0.1349;ExAC_nontcga_OTH=0.1124;ExAC_nontcga_SAS=0.1105;AF=0.1102;AF_popmax=0.1519;AF_male=0.1070;AF_female=0.1143;AF_raw=0.1105;AF_afr=0.0296;AF_sas=.;AF_amr=0.0767;AF_eas=0.0257;AF_nfe=0.1519;AF_fin=0.1639;AF_asj=0.1448;AF_oth=0.1326;non_topmed_AF_popmax=0.1587;non_neuro_AF_popmax=0.1516;non_cancer_AF_popmax=.;controls_AF_popmax=0.1655;Kaviar_AF=0.109035;Kaviar_AC=16857;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.258596;ALLELE_END;VINYL_score=2.5 GT 0|1 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 91708935 rs201977551 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20112;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.T7488G:p.N2496K,AKAP9:NM_147185:exon31:c.T7464G:p.N2488K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201977551;CLNALLELEID=189288;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.298;SIFT_converted_rankscore=0.146;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.231;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.673;LRT_converted_rankscore=0.060;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.66;MutationAssessor_score_rankscore=0.163;MutationAssessor_pred=N;FATHMM_score=4.1;FATHMM_converted_rankscore=0.033;FATHMM_pred=T;PROVEAN_score=-0.6;PROVEAN_converted_rankscore=0.210;PROVEAN_pred=N;VEST3_score=0.083;VEST3_rankscore=0.077;MetaSVM_score=-0.940;MetaSVM_rankscore=0.426;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_rankscore=0.017;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.185;M-CAP_pred=T;REVEL_score=0.033;REVEL_rankscore=0.083;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.178;CADD_raw_rankscore=0.078;CADD_phred=1.218;DANN_score=0.601;DANN_rankscore=0.062;fathmm-MKL_coding_score=0.214;fathmm-MKL_coding_rankscore=0.212;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.099;Eigen-PC-raw=-1.030;GenoCanyon_score=0.013;GenoCanyon_score_rankscore=0.124;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-0.088;GERP++_RS_rankscore=0.129;phyloP100way_vertebrate=0.087;phyloP100way_vertebrate_rankscore=0.147;phyloP20way_mammalian=0.003;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.101;phastCons100way_vertebrate_rankscore=0.226;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=5.365;SiPhy_29way_logOdds_rankscore=0.153;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.94e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0003;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.887135;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91711791 rs200494782;rs2079082 A AT,G 100 PASS AC=2,88;AF=0.00399361,0.360623;AN=214;NS=2504;DP=17229;EAS_AF=0,0.1617;AMR_AF=0.0043,0.3559;AFR_AF=0,0.4561;EUR_AF=0.0159,0.3877;SAS_AF=0.001,0.4121;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144287689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0115;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0017;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0116;ExAC_nontcga_NFE=0.0120;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0024;AF=0.0068;AF_popmax=0.0102;AF_male=0.0064;AF_female=0.0073;AF_raw=0.0068;AF_afr=0.0015;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0102;AF_fin=0.0102;AF_asj=0.0035;AF_oth=0.0065;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0093;non_cancer_AF_popmax=.;controls_AF_popmax=0.0076;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2079082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4042;ExAC_nontcga_ALL=0.3815;ExAC_nontcga_AFR=0.4777;ExAC_nontcga_AMR=0.3081;ExAC_nontcga_EAS=0.1767;ExAC_nontcga_FIN=0.3887;ExAC_nontcga_NFE=0.4056;ExAC_nontcga_OTH=0.4026;ExAC_nontcga_SAS=0.3947;AF=0.3916;AF_popmax=0.4602;AF_male=0.3939;AF_female=0.3887;AF_raw=0.3907;AF_afr=0.4602;AF_sas=.;AF_amr=0.3211;AF_eas=0.1765;AF_nfe=0.3801;AF_fin=0.3767;AF_asj=0.5243;AF_oth=0.3819;non_topmed_AF_popmax=0.4604;non_neuro_AF_popmax=0.4540;non_cancer_AF_popmax=.;controls_AF_popmax=0.4497;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 2|0 0|2 2|0 2|2 2|0 0|2 0|2 2|0 0|2 2|2 2|2 2|0 0|0 0|0 0|0 2|0 0|0 0|0 2|0 0|0 0|2 2|0 1|0 0|0 0|0 0|0 2|0 2|0 0|0 2|2 0|0 0|0 2|0 2|0 2|0 2|2 2|2 2|2 2|2 0|0 0|2 0|0 2|2 0|0 2|0 2|2 0|0 2|2 0|2 2|0 2|2 0|2 0|0 0|2 0|2 0|0 2|0 0|0 0|0 0|0 2|2 0|2 2|0 0|0 0|0 0|2 2|2 2|2 0|2 2|0 0|2 0|0 2|0 2|0 2|0 0|2 0|2 2|0 0|0 2|0 2|2 0|2 0|2 0|0 0|0 0|0 0|0 0|0 2|2 2|0 2|2 0|0 2|2 2|2 1|0 0|0 2|0 0|2 0|0 2|2 2|0 0|0 0|0 0|0 0|0 2|0 0|0 +7 91712609 rs144875383 A C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=18655;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8286C:p.K2762N,AKAP9:NM_147185:exon33:c.A8262C:p.K2754N;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144875383;CLNALLELEID=189291;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.013;SIFT_converted_rankscore=0.538;SIFT_pred=D;Polyphen2_HDIV_score=0.435;Polyphen2_HDIV_rankscore=0.339;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.215;Polyphen2_HVAR_rankscore=0.358;Polyphen2_HVAR_pred=B;LRT_score=0.086;LRT_converted_rankscore=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.266;PROVEAN_pred=N;VEST3_score=0.013;VEST3_rankscore=0.002;MetaSVM_score=-1.045;MetaSVM_rankscore=0.158;MetaSVM_pred=T;MetaLR_score=0.072;MetaLR_rankscore=0.292;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.313;M-CAP_pred=T;REVEL_score=0.043;REVEL_rankscore=0.119;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.507;CADD_raw_rankscore=0.055;CADD_phred=0.211;DANN_score=0.217;DANN_rankscore=0.008;fathmm-MKL_coding_score=0.455;fathmm-MKL_coding_rankscore=0.273;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.998;Eigen-PC-raw=-1.022;GenoCanyon_score=0.080;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.12;GERP++_RS_rankscore=0.196;phyloP100way_vertebrate=1.214;phyloP100way_vertebrate_rankscore=0.318;phyloP20way_mammalian=0.125;phyloP20way_mammalian_rankscore=0.212;phastCons100way_vertebrate=0.195;phastCons100way_vertebrate_rankscore=0.240;phastCons20way_mammalian=0.027;phastCons20way_mammalian_rankscore=0.143;SiPhy_29way_logOdds=9.863;SiPhy_29way_logOdds_rankscore=0.401;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0019;AF_male=0.0010;AF_female=0.0011;AF_raw=0.0011;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0013001;Kaviar_AC=201;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.736401;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91712678 rs201128911 T G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19732;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.T8355G:p.T2785T,AKAP9:NM_147185:exon33:c.T8331G:p.T2777T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201128911;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.435e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.456065;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91712698 rs6960867 A G 100 PASS AC=85;AF=0.295927;AN=214;NS=2504;DP=19775;EAS_AF=0.1617;AMR_AF=0.3458;AFR_AF=0.2209;EUR_AF=0.3837;SAS_AF=0.41;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8375G:p.N2792S,AKAP9:NM_147185:exon33:c.A8351G:p.N2784S;1000g2015aug_all=0.295927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6960867;CLNALLELEID=140043;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.232;SIFT_converted_rankscore=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_rankscore=0.176;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.934;LRT_converted_rankscore=0.084;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_score_rankscore=0.281;MutationAssessor_pred=L;FATHMM_score=0.89;FATHMM_converted_rankscore=0.456;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.01;VEST3_rankscore=0.001;MetaSVM_score=-0.923;MetaSVM_rankscore=0.451;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.076;CADD_raw_rankscore=0.087;CADD_phred=1.912;DANN_score=0.814;DANN_rankscore=0.132;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_rankscore=0.135;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.894;Eigen-PC-raw=-0.941;GenoCanyon_score=0.113;GenoCanyon_score_rankscore=0.167;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-2.13;GERP++_RS_rankscore=0.067;phyloP100way_vertebrate=0.334;phyloP100way_vertebrate_rankscore=0.194;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=0.032;phastCons100way_vertebrate_rankscore=0.204;phastCons20way_mammalian=0.896;phastCons20way_mammalian_rankscore=0.378;SiPhy_29way_logOdds=1.523;SiPhy_29way_logOdds_rankscore=0.023;Interpro_domain=.;GTEx_V6p_gene=ENSG00000127914.12|ENSG00000001630.11|ENSG00000240720.3|ENSG00000001630.11|ENSG00000188693.7|ENSG00000127914.12;GTEx_V6p_tissue=Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4013;ExAC_nontcga_ALL=0.3574;ExAC_nontcga_AFR=0.2536;ExAC_nontcga_AMR=0.2930;ExAC_nontcga_EAS=0.1744;ExAC_nontcga_FIN=0.3859;ExAC_nontcga_NFE=0.3996;ExAC_nontcga_OTH=0.3948;ExAC_nontcga_SAS=0.3929;AF=0.3310;AF_popmax=0.3777;AF_male=0.3303;AF_female=0.3318;AF_raw=0.3313;AF_afr=0.2491;AF_sas=.;AF_amr=0.3101;AF_eas=0.1759;AF_nfe=0.3777;AF_fin=0.3754;AF_asj=0.5241;AF_oth=0.3708;non_topmed_AF_popmax=0.3744;non_neuro_AF_popmax=0.3799;non_cancer_AF_popmax=.;controls_AF_popmax=0.3705;Kaviar_AF=0.353333;Kaviar_AC=54626;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.156142;ALLELE_END;VINYL_score=2.5 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713016 rs34688691 TA T 100 PASS AC=86;AF=0.360623;AN=214;NS=2504;DP=17586;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.4569;EUR_AF=0.3857;SAS_AF=0.4121;AA=|||unknown(HR);VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34688691;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4960;ExAC_nontcga_AFR=0.5492;ExAC_nontcga_AMR=0.4450;ExAC_nontcga_EAS=0.3234;ExAC_nontcga_FIN=0.4676;ExAC_nontcga_NFE=0.5129;ExAC_nontcga_OTH=0.4913;ExAC_nontcga_SAS=0.5203;AF=0.4088;AF_popmax=0.4594;AF_male=0.4112;AF_female=0.4057;AF_raw=0.3898;AF_afr=0.4594;AF_sas=.;AF_amr=0.3662;AF_eas=0.1754;AF_nfe=0.3954;AF_fin=0.4451;AF_asj=0.5471;AF_oth=0.4233;non_topmed_AF_popmax=0.4597;non_neuro_AF_popmax=0.4555;non_cancer_AF_popmax=.;controls_AF_popmax=0.4527;Kaviar_AF=0.0043596;Kaviar_AC=674;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713017 rs10253598 A T 100 PASS AC=73;AF=0.322085;AN=214;NS=2504;DP=17591;EAS_AF=0.1518;AMR_AF=0.3156;AFR_AF=0.4123;EUR_AF=0.3529;SAS_AF=0.3487;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.322085;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10253598;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0107;ExAC_nontcga_AFR=0.0590;ExAC_nontcga_AMR=0.0056;ExAC_nontcga_EAS=0.0018;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0083;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0087;AF=0.0031;AF_popmax=0.0098;AF_male=0.0033;AF_female=0.0027;AF_raw=0.0030;AF_afr=0.0098;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0.0004;AF_fin=0.0003;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0099;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0110;Kaviar_AF=0.0309634;Kaviar_AC=4787;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|0 1|0 0|1 1|0 0|0 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 0|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 0|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 0|0 0|0 1|0 0|1 0|1 0|0 0|0 1|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91713018 rs114399745 A T 100 PASS AC=86;AF=0.360623;AN=214;NS=2504;DP=17402;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.4569;EUR_AF=0.3857;SAS_AF=0.4121;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.360623;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114399745;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4738;ExAC_nontcga_AFR=0.5339;ExAC_nontcga_AMR=0.4305;ExAC_nontcga_EAS=0.3014;ExAC_nontcga_FIN=0.4569;ExAC_nontcga_NFE=0.4950;ExAC_nontcga_OTH=0.4700;ExAC_nontcga_SAS=0.4719;AF=0.3882;AF_popmax=0.4456;AF_male=0.3910;AF_female=0.3846;AF_raw=0.3791;AF_afr=0.4456;AF_sas=.;AF_amr=0.3367;AF_eas=0.1741;AF_nfe=0.3775;AF_fin=0.3973;AF_asj=0.4612;AF_oth=0.3824;non_topmed_AF_popmax=0.4458;non_neuro_AF_popmax=0.4424;non_cancer_AF_popmax=.;controls_AF_popmax=0.4371;Kaviar_AF=0.287849;Kaviar_AC=44502;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91713972 rs10228334 C T 100 PASS AC=86;AF=0.373802;AN=214;NS=2504;DP=15836;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5076;EUR_AF=0.3867;SAS_AF=0.41;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon34:c.C8665T:p.L2889L,AKAP9:NM_147185:exon34:c.C8641T:p.L2881L;1000g2015aug_all=0.373802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10228334;CLNALLELEID=140044;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4027;ExAC_nontcga_ALL=0.3812;ExAC_nontcga_AFR=0.5179;ExAC_nontcga_AMR=0.3042;ExAC_nontcga_EAS=0.1735;ExAC_nontcga_FIN=0.3854;ExAC_nontcga_NFE=0.4004;ExAC_nontcga_OTH=0.4043;ExAC_nontcga_SAS=0.3933;AF=0.4061;AF_popmax=0.5121;AF_male=0.4086;AF_female=0.4031;AF_raw=0.4057;AF_afr=0.5121;AF_sas=.;AF_amr=0.3278;AF_eas=0.1765;AF_nfe=0.3793;AF_fin=0.3766;AF_asj=0.5312;AF_oth=0.3893;non_topmed_AF_popmax=0.5120;non_neuro_AF_popmax=0.5083;non_cancer_AF_popmax=.;controls_AF_popmax=0.5097;Kaviar_AF=0.373947;Kaviar_AC=57813;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.200976;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91714911 rs1063242 C T 100 PASS AC=214;AF=0.998802;AN=214;NS=2504;DP=14394;EAS_AF=1;AMR_AF=0.9986;AFR_AF=1;EUR_AF=0.997;SAS_AF=0.998;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S;1000g2015aug_all=0.998802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1063242;CLNALLELEID=140045;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.022;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_converted_rankscore=0.122;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-2.075;MutationAssessor_score_rankscore=0.002;MutationAssessor_pred=N;FATHMM_score=4.21;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=1.45;PROVEAN_converted_rankscore=0.008;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.270;MetaSVM_score=-1.027;MetaSVM_rankscore=0.213;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.130;CADD_raw_rankscore=0.082;CADD_phred=1.518;DANN_score=0.633;DANN_rankscore=0.070;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_rankscore=0.030;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.340;Eigen-PC-raw=-1.152;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.112;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.47;GERP++_RS_rankscore=0.290;phyloP100way_vertebrate=0.958;phyloP100way_vertebrate_rankscore=0.286;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=0.053;phastCons100way_vertebrate_rankscore=0.213;phastCons20way_mammalian=0.977;phastCons20way_mammalian_rankscore=0.480;SiPhy_29way_logOdds=1.723;SiPhy_29way_logOdds_rankscore=0.027;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9962;ExAC_nontcga_ALL=0.9962;ExAC_nontcga_AFR=0.9996;ExAC_nontcga_AMR=0.9985;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=0.9920;ExAC_nontcga_NFE=0.9965;ExAC_nontcga_OTH=0.9899;ExAC_nontcga_SAS=0.9920;AF=0.9958;AF_popmax=1;AF_male=0.9965;AF_female=0.9950;AF_raw=0.9958;AF_afr=0.9997;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=0.9941;AF_fin=0.9919;AF_asj=1;AF_oth=0.9917;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.818023;ALLELE_END;VINYL_score=2.5 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 91714998 rs190695638 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15783;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.G9022A:p.E3008K,AKAP9:NM_147185:exon36:c.G8998A:p.E3000K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs190695638;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.25;SIFT_converted_rankscore=0.171;SIFT_pred=T;Polyphen2_HDIV_score=0.374;Polyphen2_HDIV_rankscore=0.324;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.201;Polyphen2_HVAR_pred=B;LRT_score=0.120;LRT_converted_rankscore=0.191;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.225;MutationTaster_pred=N;MutationAssessor_score=1.325;MutationAssessor_score_rankscore=0.333;MutationAssessor_pred=L;FATHMM_score=3.87;FATHMM_converted_rankscore=0.039;FATHMM_pred=T;PROVEAN_score=-1.39;PROVEAN_converted_rankscore=0.381;PROVEAN_pred=N;VEST3_score=0.157;VEST3_rankscore=0.370;MetaSVM_score=-0.970;MetaSVM_rankscore=0.373;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.033;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.177;M-CAP_pred=T;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.726;CADD_raw_rankscore=0.163;CADD_phred=8.998;DANN_score=0.445;DANN_rankscore=0.034;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_rankscore=0.177;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.081;Eigen-PC-raw=-1.132;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.102;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.18;GERP++_RS_rankscore=0.091;phyloP100way_vertebrate=0.195;phyloP100way_vertebrate_rankscore=0.168;phyloP20way_mammalian=0.106;phyloP20way_mammalian_rankscore=0.201;phastCons100way_vertebrate=0.029;phastCons100way_vertebrate_rankscore=0.202;phastCons20way_mammalian=0.810;phastCons20way_mammalian_rankscore=0.339;SiPhy_29way_logOdds=5.776;SiPhy_29way_logOdds_rankscore=0.174;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.115e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.281e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=0.0001;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.993761;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91715662 rs28927678 C T 100 PASS AC=85;AF=0.295727;AN=214;NS=2504;DP=14480;EAS_AF=0.1617;AMR_AF=0.3458;AFR_AF=0.2201;EUR_AF=0.3837;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon37:c.C9145T:p.L3049L,AKAP9:NM_147185:exon37:c.C9121T:p.L3041L;1000g2015aug_all=0.295727;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28927678;CLNALLELEID=140046;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4013;ExAC_nontcga_ALL=0.3569;ExAC_nontcga_AFR=0.2509;ExAC_nontcga_AMR=0.2931;ExAC_nontcga_EAS=0.1740;ExAC_nontcga_FIN=0.3857;ExAC_nontcga_NFE=0.3994;ExAC_nontcga_OTH=0.3948;ExAC_nontcga_SAS=0.3926;AF=0.3307;AF_popmax=0.3779;AF_male=0.3298;AF_female=0.3318;AF_raw=0.3310;AF_afr=0.2479;AF_sas=.;AF_amr=0.3097;AF_eas=0.1748;AF_nfe=0.3779;AF_fin=0.3753;AF_asj=0.5241;AF_oth=0.3697;non_topmed_AF_popmax=0.3746;non_neuro_AF_popmax=0.3801;non_cancer_AF_popmax=.;controls_AF_popmax=0.3710;Kaviar_AF=0.345701;Kaviar_AC=53446;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.049498;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91718874 rs56295910 A G 100 PASS AC=1;AF=0.0125799;AN=214;NS=2504;DP=17012;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0;EUR_AF=0.0159;SAS_AF=0.0419;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0125799;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56295910;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.128;VEST3_rankscore=0.146;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.526;CADD_raw_rankscore=0.144;CADD_phred=7.624;DANN_score=0.428;DANN_rankscore=0.031;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.106;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.534;Eigen-PC-raw=-0.672;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.048;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=1.71;GERP++_RS_rankscore=0.233;phyloP100way_vertebrate=0.252;phyloP100way_vertebrate_rankscore=0.179;phyloP20way_mammalian=1.041;phyloP20way_mammalian_rankscore=0.660;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.004;phastCons20way_mammalian_rankscore=0.083;SiPhy_29way_logOdds=3.478;SiPhy_29way_logOdds_rankscore=0.071;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0203;ExAC_nontcga_ALL=0.0244;ExAC_nontcga_AFR=0.0032;ExAC_nontcga_AMR=0.0188;ExAC_nontcga_EAS=0.0008;ExAC_nontcga_FIN=0.0335;ExAC_nontcga_NFE=0.0194;ExAC_nontcga_OTH=0.0446;ExAC_nontcga_SAS=0.0621;AF=0.0165;AF_popmax=0.0217;AF_male=0.0150;AF_female=0.0184;AF_raw=0.0166;AF_afr=0.0039;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0217;AF_fin=0.0283;AF_asj=0.0138;AF_oth=0.0350;non_topmed_AF_popmax=0.0227;non_neuro_AF_popmax=0.0217;non_cancer_AF_popmax=.;controls_AF_popmax=0.0248;Kaviar_AF=0.0196375;Kaviar_AC=3036;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.308932;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726280 rs572101398 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18741;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.G10007A:p.R3336Q,AKAP9:NM_147185:exon41:c.G9983A:p.R3328Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs572101398;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.411;SIFT_converted_rankscore=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_rankscore=0.470;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.363;Polyphen2_HVAR_pred=B;LRT_score=0.419;LRT_converted_rankscore=0.129;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=4.02;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.114;PROVEAN_pred=N;VEST3_score=0.161;VEST3_rankscore=0.219;MetaSVM_score=-0.948;MetaSVM_rankscore=0.414;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.040;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.181;M-CAP_pred=T;REVEL_score=0.026;REVEL_rankscore=0.059;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.447;CADD_raw_rankscore=0.137;CADD_phred=7.013;DANN_score=0.967;DANN_rankscore=0.303;fathmm-MKL_coding_score=0.240;fathmm-MKL_coding_rankscore=0.220;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.448;Eigen-PC-raw=-0.549;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.089;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=2.69;GERP++_RS_rankscore=0.308;phyloP100way_vertebrate=0.384;phyloP100way_vertebrate_rankscore=0.202;phyloP20way_mammalian=0.079;phyloP20way_mammalian_rankscore=0.188;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=4.676;SiPhy_29way_logOdds_rankscore=0.120;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.827e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.37e-05;AF_popmax=0.0002;AF_male=5.723e-05;AF_female=7.181e-05;AF_raw=6.366e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.708410;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726470 rs143627839 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19768;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.T10197C:p.T3399T,AKAP9:NM_147185:exon41:c.T10173C:p.T3391T;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143627839;CLNALLELEID=212622;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0030;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0013;AF=0.0013;AF_popmax=0.0021;AF_male=0.0013;AF_female=0.0013;AF_raw=0.0013;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0021;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0014942;Kaviar_AC=231;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.231276;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91726927 rs1063243 A C 100 PASS AC=86;AF=0.377396;AN=214;NS=2504;DP=18085;EAS_AF=0.1617;AMR_AF=0.3573;AFR_AF=0.5212;EUR_AF=0.3867;SAS_AF=0.41;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.A10426C:p.R3476R,AKAP9:NM_147185:exon42:c.A10402C:p.R3468R;1000g2015aug_all=0.377396;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1063243;CLNALLELEID=140047;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4036;ExAC_nontcga_ALL=0.3825;ExAC_nontcga_AFR=0.5308;ExAC_nontcga_AMR=0.3052;ExAC_nontcga_EAS=0.1742;ExAC_nontcga_FIN=0.3858;ExAC_nontcga_NFE=0.4004;ExAC_nontcga_OTH=0.4029;ExAC_nontcga_SAS=0.3933;AF=0.4081;AF_popmax=0.5214;AF_male=0.4107;AF_female=0.4049;AF_raw=0.4085;AF_afr=0.5214;AF_sas=.;AF_amr=0.3267;AF_eas=0.1742;AF_nfe=0.3788;AF_fin=0.3756;AF_asj=0.5276;AF_oth=0.3886;non_topmed_AF_popmax=0.5213;non_neuro_AF_popmax=0.5180;non_cancer_AF_popmax=.;controls_AF_popmax=0.5187;Kaviar_AF=0.379795;Kaviar_AC=58717;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.643307;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91727018 rs200735563 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17958;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.C10517A:p.T3506N,AKAP9:NM_147185:exon42:c.C10493A:p.T3498N;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200735563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.497;SIFT_converted_rankscore=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_rankscore=0.261;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.253;Polyphen2_HVAR_pred=B;LRT_score=0.597;LRT_converted_rankscore=0.110;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.3;MutationAssessor_score_rankscore=0.659;MutationAssessor_pred=M;FATHMM_score=4.01;FATHMM_converted_rankscore=0.035;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_converted_rankscore=0.255;PROVEAN_pred=N;VEST3_score=0.055;VEST3_rankscore=0.037;MetaSVM_score=-0.903;MetaSVM_rankscore=0.477;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.031;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.081;M-CAP_pred=T;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.054;CADD_raw_rankscore=0.099;CADD_phred=3.120;DANN_score=0.604;DANN_rankscore=0.063;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_rankscore=0.115;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.860;Eigen-PC-raw=-0.882;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.044;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=0.98;GERP++_RS_rankscore=0.188;phyloP100way_vertebrate=0.036;phyloP100way_vertebrate_rankscore=0.136;phyloP20way_mammalian=0.049;phyloP20way_mammalian_rankscore=0.161;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.137;phastCons20way_mammalian=0.914;phastCons20way_mammalian_rankscore=0.390;SiPhy_29way_logOdds=1.057;SiPhy_29way_logOdds_rankscore=0.015;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.437901;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91727385 rs6946356 G A 100 PASS AC=86;AF=0.362021;AN=214;NS=2504;DP=17018;EAS_AF=0.1607;AMR_AF=0.3559;AFR_AF=0.4652;EUR_AF=0.3857;SAS_AF=0.41;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.362021;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6946356;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4027;ExAC_nontcga_ALL=0.3934;ExAC_nontcga_AFR=0.4877;ExAC_nontcga_AMR=0.3164;ExAC_nontcga_EAS=0.1907;ExAC_nontcga_FIN=0.3919;ExAC_nontcga_NFE=0.4175;ExAC_nontcga_OTH=0.4060;ExAC_nontcga_SAS=0.4044;AF=0.3926;AF_popmax=0.4659;AF_male=0.3947;AF_female=0.3900;AF_raw=0.3925;AF_afr=0.4659;AF_sas=.;AF_amr=0.3235;AF_eas=0.1770;AF_nfe=0.3789;AF_fin=0.3756;AF_asj=0.5276;AF_oth=0.3815;non_topmed_AF_popmax=0.4662;non_neuro_AF_popmax=0.4600;non_cancer_AF_popmax=.;controls_AF_popmax=0.4567;Kaviar_AF=0.365532;Kaviar_AC=56512;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 1|0 0|1 1|0 0|1 1|0 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|0 0|0 +7 91727479 rs139046510 A T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16526;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10664T:p.D3555V,AKAP9:NM_147185:exon43:c.A10640T:p.D3547V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139046510;CLNALLELEID=188463;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.98;Polyphen2_HDIV_rankscore=0.637;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.743;Polyphen2_HVAR_rankscore=0.576;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_score_rankscore=0.627;MutationAssessor_pred=M;FATHMM_score=3.93;FATHMM_converted_rankscore=0.037;FATHMM_pred=T;PROVEAN_score=-4.6;PROVEAN_converted_rankscore=0.813;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=-1.176;MetaSVM_rankscore=0.004;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_rankscore=0.136;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.455;M-CAP_pred=T;REVEL_score=0.236;REVEL_rankscore=0.544;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.273;CADD_raw_rankscore=0.866;CADD_phred=29.0;DANN_score=0.970;DANN_rankscore=0.312;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.919;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.617;Eigen-PC-raw=0.597;GenoCanyon_score=0.610;GenoCanyon_score_rankscore=0.218;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.74;GERP++_RS_rankscore=0.596;phyloP100way_vertebrate=6.058;phyloP100way_vertebrate_rankscore=0.706;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.681;SiPhy_29way_logOdds_rankscore=0.685;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0013;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0008;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0006;AF_raw=0.0008;AF_afr=0.0003;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.791561;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91727487 rs144054367 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=16313;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10672G:p.I3558V,AKAP9:NM_147185:exon43:c.A10648G:p.I3550V;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144054367;CLNALLELEID=189302;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.042;SIFT_converted_rankscore=0.416;SIFT_pred=D;Polyphen2_HDIV_score=0.838;Polyphen2_HDIV_rankscore=0.444;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.248;Polyphen2_HVAR_rankscore=0.372;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.401;LRT_pred=N;MutationTaster_score=0.934;MutationTaster_converted_rankscore=0.371;MutationTaster_pred=D;MutationAssessor_score=2.615;MutationAssessor_score_rankscore=0.767;MutationAssessor_pred=M;FATHMM_score=3.78;FATHMM_converted_rankscore=0.043;FATHMM_pred=T;PROVEAN_score=-0.27;PROVEAN_converted_rankscore=0.119;PROVEAN_pred=N;VEST3_score=0.047;VEST3_rankscore=0.031;MetaSVM_score=-0.889;MetaSVM_rankscore=0.490;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.035;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.295;M-CAP_pred=T;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.059;CADD_raw_rankscore=0.428;CADD_phred=22.4;DANN_score=0.951;DANN_rankscore=0.255;fathmm-MKL_coding_score=0.866;fathmm-MKL_coding_rankscore=0.456;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.281;Eigen-PC-raw=-0.213;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.046;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=0.637;GERP++_RS_rankscore=0.168;phyloP100way_vertebrate=1.113;phyloP100way_vertebrate_rankscore=0.306;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=7.731;SiPhy_29way_logOdds_rankscore=0.278;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0005;AF_female=0.0004;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008021;Kaviar_AC=124;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.674099;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91729127 rs34327395 A G 100 PASS AC=2;AF=0.00678914;AN=214;NS=2504;DP=20557;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0091;EUR_AF=0.0139;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon44:c.A10840G:p.M3614V,AKAP9:NM_147185:exon44:c.A10816G:p.M3606V;1000g2015aug_all=0.00678914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34327395;CLNALLELEID=140048;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.271;SIFT_converted_rankscore=0.160;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.080;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_converted_rankscore=0.225;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.238;MutationTaster_pred=N;MutationAssessor_score=2.585;MutationAssessor_score_rankscore=0.758;MutationAssessor_pred=M;FATHMM_score=4.06;FATHMM_converted_rankscore=0.034;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_converted_rankscore=0.348;PROVEAN_pred=N;VEST3_score=0.077;VEST3_rankscore=0.094;MetaSVM_score=-0.902;MetaSVM_rankscore=0.478;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.013;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.042;REVEL_rankscore=0.116;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.252;CADD_raw_rankscore=0.216;CADD_phred=12.02;DANN_score=0.882;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_rankscore=0.482;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.756;Eigen-PC-raw=-0.625;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.11;GERP++_RS_rankscore=0.195;phyloP100way_vertebrate=2.903;phyloP100way_vertebrate_rankscore=0.482;phyloP20way_mammalian=0.196;phyloP20way_mammalian_rankscore=0.251;phastCons100way_vertebrate=0.988;phastCons100way_vertebrate_rankscore=0.363;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=5.656;SiPhy_29way_logOdds_rankscore=0.168;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0088;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0093;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0098;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0021;AF=0.0081;AF_popmax=0.0100;AF_male=0.0078;AF_female=0.0085;AF_raw=0.0081;AF_afr=0.0095;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0100;AF_fin=0.0012;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0103;non_cancer_AF_popmax=.;controls_AF_popmax=0.0094;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.850297;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91730115 rs117615503 G C 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=19615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117615503;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0047;AF_popmax=0.0079;AF_male=0.0051;AF_female=0.0042;AF_raw=0.0047;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0079;AF_fin=0.0012;AF_asj=0.0069;AF_oth=0.0074;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0076;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0007568;Kaviar_AC=117;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.519386;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91732083 rs141856443 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=15066;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon46:c.G11273A:p.R3758H,AKAP9:NM_147185:exon46:c.G11249A:p.R3750H;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141856443;CLNALLELEID=189307;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.427;SIFT_converted_rankscore=0.096;SIFT_pred=T;Polyphen2_HDIV_score=0.165;Polyphen2_HDIV_rankscore=0.269;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_converted_rankscore=0.243;LRT_pred=N;MutationTaster_score=0.555;MutationTaster_converted_rankscore=0.313;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_score_rankscore=0.246;MutationAssessor_pred=L;FATHMM_score=3.83;FATHMM_converted_rankscore=0.040;FATHMM_pred=T;PROVEAN_score=-1.84;PROVEAN_converted_rankscore=0.431;PROVEAN_pred=N;VEST3_score=0.158;VEST3_rankscore=0.250;MetaSVM_score=-0.975;MetaSVM_rankscore=0.361;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_rankscore=0.028;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.240;M-CAP_pred=T;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.838;CADD_raw_rankscore=0.402;CADD_phred=21.6;DANN_score=0.877;DANN_rankscore=0.169;fathmm-MKL_coding_score=0.828;fathmm-MKL_coding_rankscore=0.417;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.572;Eigen-PC-raw=-0.385;GenoCanyon_score=0.010;GenoCanyon_score_rankscore=0.120;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.58;GERP++_RS_rankscore=0.299;phyloP100way_vertebrate=2.136;phyloP100way_vertebrate_rankscore=0.415;phyloP20way_mammalian=-0.262;phyloP20way_mammalian_rankscore=0.088;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.787;phastCons20way_mammalian_rankscore=0.332;SiPhy_29way_logOdds=7.368;SiPhy_29way_logOdds_rankscore=0.258;Interpro_domain=Pericentrin/AKAP-450_centrosomal_targeting_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0054;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0018;AF_popmax=0.0036;AF_male=0.0018;AF_female=0.0018;AF_raw=0.0018;AF_afr=0.0002;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0049;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0083;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.047890;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91734904 rs563870582 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20034;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs563870582;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91734913 rs532851043 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532851043;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.185e-05;AF_popmax=0.0006;AF_male=0;AF_female=7.182e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91735104 rs146124634 A C 100 PASS AC=2;AF=0.00139776;AN=214;NS=2504;DP=19514;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.0051;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146124634;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0035;AF=0.0002;AF_popmax=0.0005;AF_male=0.0003;AF_female=7.182e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0008279;Kaviar_AC=128;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.534004;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91735110 rs571816612 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19050;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571816612;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.496e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.857e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.487e-05;AF_male=5.725e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.487e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.03e-05;non_neuro_AF_popmax=7.349e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.534004;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 91736794 rs7785971 T A 100 PASS AC=88;AF=0.428315;AN=214;NS=2504;DP=16464;EAS_AF=0.1825;AMR_AF=0.3718;AFR_AF=0.677;EUR_AF=0.3877;SAS_AF=0.4274;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.428315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7785971;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4393;AF_popmax=0.6383;AF_male=0.4431;AF_female=0.4345;AF_raw=0.4396;AF_afr=0.6383;AF_sas=.;AF_amr=0.3322;AF_eas=0.1981;AF_nfe=0.3769;AF_fin=0.3592;AF_asj=0.5207;AF_oth=0.3959;non_topmed_AF_popmax=0.6384;non_neuro_AF_popmax=0.6353;non_cancer_AF_popmax=.;controls_AF_popmax=0.6327;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.410646::-0.136023;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=1 GT 1|0 0|1 1|0 0|1 1|1 0|1 0|1 1|0 0|1 1|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 0|0 0|0 1|0 1|0 1|0 1|0 1|1 1|1 1|1 0|0 0|1 0|0 1|1 0|0 1|0 1|1 0|0 1|1 0|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 1|0 0|1 0|1 1|0 0|0 1|0 1|1 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|1 1|0 1|1 0|0 1|1 1|1 0|0 0|0 1|0 0|1 0|0 1|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 +7 91736803 rs553020204;rs535447834 AT A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=16495;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;VT=SNP,INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535447834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0022;AF_popmax=0.0033;AF_male=0.0023;AF_female=0.0021;AF_raw=0.0022;AF_afr=0.0011;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0014;AF_asj=0.0069;AF_oth=0.0018;non_topmed_AF_popmax=0.0027;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.0008068;Kaviar_AC=21;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 91739498 rs144959713 G A 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=15368;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=AKAP9;GeneDetail.refGene=NM_147185:c.*25G>A\x3bNM_005751:c.*25G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144959713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.531e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.555e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.121816;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 92077202 rs552238004 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7931;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G159A:p.G53G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs552238004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000215088|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1193989|N/A|TFAP2C|PAZAR,OREG1516294|N/A|EGR1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR,OREG1907246|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.289036;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 92077203 rs10281879 G A 100 PASS AC=25;AF=0.0816693;AN=214;NS=2504;DP=7920;EAS_AF=0.0397;AMR_AF=0.0793;AFR_AF=0.0741;EUR_AF=0.1471;SAS_AF=0.0695;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G160A:p.G54S;1000g2015aug_all=0.0816693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10281879;CLNALLELEID=54990;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.714;SIFT_converted_rankscore=0.040;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.056;LRT_converted_rankscore=0.226;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.191;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-3.49;FATHMM_converted_rankscore=0.946;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_converted_rankscore=0.030;PROVEAN_pred=N;VEST3_score=0.198;VEST3_rankscore=0.243;MetaSVM_score=-0.877;MetaSVM_rankscore=0.500;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.020;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.228;REVEL_rankscore=0.532;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.493;CADD_raw_rankscore=0.056;CADD_phred=0.228;DANN_score=0.898;DANN_rankscore=0.185;fathmm-MKL_coding_score=0.288;fathmm-MKL_coding_rankscore=0.234;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.001;Eigen-PC-raw=-0.979;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.243;integrated_fitCons_score_rankscore=0.034;integrated_confidence_value=2;GERP++_RS=-1.05;GERP++_RS_rankscore=0.095;phyloP100way_vertebrate=0.644;phyloP100way_vertebrate_rankscore=0.243;phyloP20way_mammalian=0.855;phyloP20way_mammalian_rankscore=0.374;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.817;phastCons20way_mammalian_rankscore=0.342;SiPhy_29way_logOdds=1.105;SiPhy_29way_logOdds_rankscore=0.016;Interpro_domain=Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2982;ExAC_nontcga_AFR=0.5;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.3;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.2614;AF=0.1100;AF_popmax=0.1303;AF_male=0.1079;AF_female=0.1127;AF_raw=0.1102;AF_afr=0.0805;AF_sas=.;AF_amr=0.0837;AF_eas=0.0321;AF_nfe=0.1303;AF_fin=0.1307;AF_asj=0.1424;AF_oth=0.1169;non_topmed_AF_popmax=0.1343;non_neuro_AF_popmax=0.1305;non_cancer_AF_popmax=.;controls_AF_popmax=0.1467;Kaviar_AF=0.0222572;Kaviar_AC=3441;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.12594::-0.286752;ENSEMBLReg=Name\x3dENSR00000215088|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1516294|N/A|EGR1|PAZAR,OREG1193989|N/A|TFAP2C|PAZAR,OREG1907246|N/A|STAT1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.289036;ALLELE_END;VINYL_score=5.5 GT 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 92084022 rs138108362 G GT 100 PASS AC=12;AF=0.0179712;AN=214;NS=2504;DP=19511;EAS_AF=0.004;AMR_AF=0.0173;AFR_AF=0.0045;EUR_AF=0.0517;SAS_AF=0.0164;AA=TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138108362;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0412;ExAC_nontcga_ALL=0.0265;ExAC_nontcga_AFR=0.0081;ExAC_nontcga_AMR=0.0136;ExAC_nontcga_EAS=0.0037;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0368;ExAC_nontcga_OTH=0.0386;ExAC_nontcga_SAS=0.0252;AF=0.0235;AF_popmax=0.0342;AF_male=0.0228;AF_female=0.0243;AF_raw=0.0235;AF_afr=0.0068;AF_sas=.;AF_amr=0.0288;AF_eas=0.0032;AF_nfe=0.0342;AF_fin=0.0223;AF_asj=0.0490;AF_oth=0.0262;non_topmed_AF_popmax=0.0307;non_neuro_AF_popmax=0.0350;non_cancer_AF_popmax=.;controls_AF_popmax=0.0413;Kaviar_AF=0.0011319;Kaviar_AC=175;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +7 92085763 rs34768413 C T 100 PASS AC=5;AF=0.00698882;AN=214;NS=2504;DP=19245;EAS_AF=0.001;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0209;SAS_AF=0.002;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon5:c.C697T:p.R233W;1000g2015aug_all=0.00698882;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34768413;CLNALLELEID=54994;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_rankscore=0.473;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_score_rankscore=0.612;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_converted_rankscore=0.582;FATHMM_pred=T;PROVEAN_score=-6.59;PROVEAN_converted_rankscore=0.920;PROVEAN_pred=D;VEST3_score=0.6;VEST3_rankscore=0.625;MetaSVM_score=-0.813;MetaSVM_rankscore=0.544;MetaSVM_pred=T;MetaLR_score=0.107;MetaLR_rankscore=0.389;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.221;REVEL_rankscore=0.522;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.208;CADD_raw_rankscore=0.945;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.286;Eigen-PC-raw=0.247;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.448;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=3.54;GERP++_RS_rankscore=0.395;phyloP100way_vertebrate=1.270;phyloP100way_vertebrate_rankscore=0.325;phyloP20way_mammalian=-0.011;phyloP20way_mammalian_rankscore=0.132;phastCons100way_vertebrate=0.651;phastCons100way_vertebrate_rankscore=0.279;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=9.985;SiPhy_29way_logOdds_rankscore=0.408;Interpro_domain=.;GTEx_V6p_gene=ENSG00000157259.6|ENSG00000157259.6|ENSG00000157259.6;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Aorta|Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0155;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0057;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0142;ExAC_nontcga_NFE=0.0166;ExAC_nontcga_OTH=0.0187;ExAC_nontcga_SAS=0.0029;AF=0.0092;AF_popmax=0.0139;AF_male=0.0094;AF_female=0.0089;AF_raw=0.0092;AF_afr=0.0023;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0139;AF_fin=0.0115;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0122;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0112;Kaviar_AF=0.0117786;Kaviar_AC=1821;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.546593;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128470838 rs3734972 C T 100 PASS AC=21;AF=0.110024;AN=214;NS=2504;DP=13918;EAS_AF=0.1964;AMR_AF=0.0908;AFR_AF=0.0938;EUR_AF=0.0825;SAS_AF=0.0849;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon1:c.C147T:p.H49H,FLNC:NM_001458:exon1:c.C147T:p.H49H;1000g2015aug_all=0.110024;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734972;CLNALLELEID=134527;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0851;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.1086;ExAC_nontcga_AMR=0.0875;ExAC_nontcga_EAS=0.1779;ExAC_nontcga_FIN=0.0844;ExAC_nontcga_NFE=0.0844;ExAC_nontcga_OTH=0.0855;ExAC_nontcga_SAS=0.0860;AF=0.0963;AF_popmax=0.1836;AF_male=0.0970;AF_female=0.0953;AF_raw=0.0965;AF_afr=0.0922;AF_sas=.;AF_amr=0.0967;AF_eas=0.1836;AF_nfe=0.0926;AF_fin=0.0850;AF_asj=0.0966;AF_oth=0.0919;non_topmed_AF_popmax=0.1796;non_neuro_AF_popmax=0.1836;non_cancer_AF_popmax=.;controls_AF_popmax=0.1663;Kaviar_AF=0.091907;Kaviar_AC=14209;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000217783|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511284|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.926054;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128471084 rs140098814 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=11573;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140098814;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.337e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0012;AF_popmax=0.0018;AF_male=0.0015;AF_female=0.0008;AF_raw=0.0012;AF_afr=0.0008;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0006;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000217783|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511284|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.617837;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475583 rs137926567 C A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18892;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C556A:p.Q186K,FLNC:NM_001458:exon2:c.C556A:p.Q186K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs137926567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.016;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_rankscore=0.270;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.037;Polyphen2_HVAR_rankscore=0.341;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.468;MutationTaster_pred=D;MutationAssessor_score=0.245;MutationAssessor_score_rankscore=0.098;MutationAssessor_pred=N;FATHMM_score=-3.42;FATHMM_converted_rankscore=0.944;FATHMM_pred=D;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.471;PROVEAN_pred=N;VEST3_score=0.439;VEST3_rankscore=0.494;MetaSVM_score=0.330;MetaSVM_rankscore=0.880;MetaSVM_pred=D;MetaLR_score=0.721;MetaLR_rankscore=0.904;MetaLR_pred=D;M-CAP_score=0.045;M-CAP_rankscore=0.620;M-CAP_pred=D;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.790;CADD_raw_rankscore=0.396;CADD_phred=21.3;DANN_score=0.991;DANN_rankscore=0.531;fathmm-MKL_coding_score=0.845;fathmm-MKL_coding_rankscore=0.432;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.010;Eigen-PC-raw=0.192;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.63;GERP++_RS_rankscore=0.861;phyloP100way_vertebrate=2.159;phyloP100way_vertebrate_rankscore=0.417;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.659;SiPhy_29way_logOdds_rankscore=0.914;Interpro_domain=Calponin_homology_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.486e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.842e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.925415;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475624 rs143942649 C T 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18240;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C597T:p.A199A,FLNC:NM_001458:exon2:c.C597T:p.A199A;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143942649;CLNALLELEID=192306;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0021;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0017;AF=0.0012;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0014;AF_raw=0.0012;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0138;AF_oth=0.0037;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0017335;Kaviar_AC=268;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904921;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128475627 rs202105410 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18604;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon2:c.C600T:p.P200P,FLNC:NM_001458:exon2:c.C600T:p.P200P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202105410;CLNALLELEID=368901;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0001;dbscSNV_RF_SCORE=0.074;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=0.0004;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.904921;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477472 rs2291560 T C 100 PASS AC=26;AF=0.121805;AN=214;NS=2504;DP=15037;EAS_AF=0.121;AMR_AF=0.062;AFR_AF=0.1248;EUR_AF=0.1093;SAS_AF=0.1738;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T720C:p.I240I,FLNC:NM_001458:exon4:c.T720C:p.I240I;1000g2015aug_all=0.121805;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291560;CLNALLELEID=134542;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1110;ExAC_nontcga_ALL=0.1080;ExAC_nontcga_AFR=0.1292;ExAC_nontcga_AMR=0.0473;ExAC_nontcga_EAS=0.0900;ExAC_nontcga_FIN=0.1006;ExAC_nontcga_NFE=0.1103;ExAC_nontcga_OTH=0.1014;ExAC_nontcga_SAS=0.1426;AF=0.1162;AF_popmax=0.1250;AF_male=0.1170;AF_female=0.1151;AF_raw=0.1166;AF_afr=0.1250;AF_sas=.;AF_amr=0.0601;AF_eas=0.0977;AF_nfe=0.1202;AF_fin=0.0990;AF_asj=0.1172;AF_oth=0.1135;non_topmed_AF_popmax=0.1258;non_neuro_AF_popmax=0.1309;non_cancer_AF_popmax=.;controls_AF_popmax=0.1315;Kaviar_AF=0.108304;Kaviar_AC=16744;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.885324;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477547 rs2291561 T C 100 PASS AC=26;AF=0.121006;AN=214;NS=2504;DP=14951;EAS_AF=0.121;AMR_AF=0.062;AFR_AF=0.1218;EUR_AF=0.1093;SAS_AF=0.1738;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T795C:p.G265G,FLNC:NM_001458:exon4:c.T795C:p.G265G;1000g2015aug_all=0.121006;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291561;CLNALLELEID=134545;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1108;ExAC_nontcga_ALL=0.1077;ExAC_nontcga_AFR=0.1272;ExAC_nontcga_AMR=0.0468;ExAC_nontcga_EAS=0.0900;ExAC_nontcga_FIN=0.1005;ExAC_nontcga_NFE=0.1103;ExAC_nontcga_OTH=0.1029;ExAC_nontcga_SAS=0.1424;AF=0.1153;AF_popmax=0.1223;AF_male=0.1163;AF_female=0.1141;AF_raw=0.1156;AF_afr=0.1223;AF_sas=.;AF_amr=0.0590;AF_eas=0.0974;AF_nfe=0.1201;AF_fin=0.0990;AF_asj=0.1172;AF_oth=0.1131;non_topmed_AF_popmax=0.1253;non_neuro_AF_popmax=0.1277;non_cancer_AF_popmax=.;controls_AF_popmax=0.1303;Kaviar_AF=0.107023;Kaviar_AC=16546;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.871093;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477620 rs55907818 G A 100 PASS AC=24;AF=0.076877;AN=214;NS=2504;DP=14688;EAS_AF=0.0813;AMR_AF=0.0504;AFR_AF=0.0794;EUR_AF=0.0805;SAS_AF=0.0838;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55907818;CLNALLELEID=252577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0801;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0707;ExAC_nontcga_NFE=0.0882;ExAC_nontcga_OTH=0.0756;ExAC_nontcga_SAS=0.0889;AF=0.0830;AF_popmax=0.0897;AF_male=0.0841;AF_female=0.0816;AF_raw=0.0831;AF_afr=0.0788;AF_sas=.;AF_amr=0.0483;AF_eas=0.0795;AF_nfe=0.0897;AF_fin=0.0679;AF_asj=0.1172;AF_oth=0.0928;non_topmed_AF_popmax=0.0928;non_neuro_AF_popmax=0.0894;non_cancer_AF_popmax=.;controls_AF_popmax=0.0906;Kaviar_AF=0.0807363;Kaviar_AC=12482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.350675;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.076877;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55907818;CLNALLELEID=252577;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0864;ExAC_nontcga_ALL=0.0801;ExAC_nontcga_AFR=0.0848;ExAC_nontcga_AMR=0.0376;ExAC_nontcga_EAS=0.0691;ExAC_nontcga_FIN=0.0707;ExAC_nontcga_NFE=0.0882;ExAC_nontcga_OTH=0.0756;ExAC_nontcga_SAS=0.0889;AF=0.0830;AF_popmax=0.0897;AF_male=0.0841;AF_female=0.0816;AF_raw=0.0831;AF_afr=0.0788;AF_sas=.;AF_amr=0.0483;AF_eas=0.0795;AF_nfe=0.0897;AF_fin=0.0679;AF_asj=0.1172;AF_oth=0.0928;non_topmed_AF_popmax=0.0928;non_neuro_AF_popmax=0.0894;non_cancer_AF_popmax=.;controls_AF_popmax=0.0906;Kaviar_AF=0.0807363;Kaviar_AC=12482;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.350675;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128477865 rs7787924 G A 100 PASS AC=8;AF=0.197484;AN=214;NS=2504;DP=18030;EAS_AF=0.3264;AMR_AF=0.1455;AFR_AF=0.3321;EUR_AF=0.0328;SAS_AF=0.089;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.197484;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7787924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1249;AF_popmax=0.3089;AF_male=0.1280;AF_female=0.1210;AF_raw=0.1253;AF_afr=0.2930;AF_sas=.;AF_amr=0.1285;AF_eas=0.3089;AF_nfe=0.0396;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0680;non_topmed_AF_popmax=0.3054;non_neuro_AF_popmax=0.3089;non_cancer_AF_popmax=.;controls_AF_popmax=0.3103;Kaviar_AF=0.0165522;Kaviar_AC=2559;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.449430;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128478103 rs2291562 C T 100 PASS AC=8;AF=0.196486;AN=214;NS=2504;DP=18284;EAS_AF=0.3224;AMR_AF=0.147;AFR_AF=0.3313;EUR_AF=0.0318;SAS_AF=0.089;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon6:c.C1032T:p.V344V,FLNC:NM_001458:exon6:c.C1032T:p.V344V;1000g2015aug_all=0.196486;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291562;CLNALLELEID=134524;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0409;ExAC_nontcga_ALL=0.1019;ExAC_nontcga_AFR=0.2834;ExAC_nontcga_AMR=0.1690;ExAC_nontcga_EAS=0.3258;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0430;ExAC_nontcga_OTH=0.0696;ExAC_nontcga_SAS=0.0839;AF=0.1250;AF_popmax=0.3073;AF_male=0.1283;AF_female=0.1209;AF_raw=0.1251;AF_afr=0.2943;AF_sas=.;AF_amr=0.1280;AF_eas=0.3073;AF_nfe=0.0397;AF_fin=0.0262;AF_asj=0.0207;AF_oth=0.0672;non_topmed_AF_popmax=0.3038;non_neuro_AF_popmax=0.3073;non_cancer_AF_popmax=.;controls_AF_popmax=0.3081;Kaviar_AF=0.0938798;Kaviar_AC=14514;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511288|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.811704;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128478605 rs113902193 C T 100 PASS AC=1;AF=0.0191693;AN=214;NS=2504;DP=13301;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0.0703;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0191693;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113902193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0137;AF_popmax=0.0477;AF_male=0.0152;AF_female=0.0118;AF_raw=0.0138;AF_afr=0.0477;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0138;AF_oth=0.0028;non_topmed_AF_popmax=0.0476;non_neuro_AF_popmax=0.0501;non_cancer_AF_popmax=.;controls_AF_popmax=0.0504;Kaviar_AF=0.0052251;Kaviar_AC=136;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480099 rs201810745 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19767;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1434T:p.R478R,FLNC:NM_001458:exon9:c.C1434T:p.R478R;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201810745;CLNALLELEID=369193;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0012;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.837926;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480123 rs2291563 C A 100 PASS AC=3;AF=0.196086;AN=214;NS=2504;DP=20015;EAS_AF=0.3125;AMR_AF=0.1282;AFR_AF=0.3578;EUR_AF=0.0199;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1458A:p.P486P,FLNC:NM_001458:exon9:c.C1458A:p.P486P;1000g2015aug_all=0.196086;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291563;CLNALLELEID=134526;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0179;ExAC_nontcga_ALL=0.0864;ExAC_nontcga_AFR=0.3067;ExAC_nontcga_AMR=0.1394;ExAC_nontcga_EAS=0.3178;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0208;ExAC_nontcga_OTH=0.0638;ExAC_nontcga_SAS=0.0700;AF=0.1199;AF_popmax=0.3183;AF_male=0.1231;AF_female=0.1158;AF_raw=0.1200;AF_afr=0.3183;AF_sas=.;AF_amr=0.1026;AF_eas=0.3026;AF_nfe=0.0192;AF_fin=0.0227;AF_asj=0.0103;AF_oth=0.0516;non_topmed_AF_popmax=0.3194;non_neuro_AF_popmax=0.3094;non_cancer_AF_popmax=.;controls_AF_popmax=0.3110;Kaviar_AF=0.0789058;Kaviar_AC=12199;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.845743;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480229 rs181134489 C A 100 PASS AC=1;AF=0.00139776;AN=214;NS=2504;DP=18136;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181134489;CLNALLELEID=252579;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0052;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0037;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0035;AF_popmax=0.0062;AF_male=0.0038;AF_female=0.0032;AF_raw=0.0035;AF_afr=0.0007;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0062;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0060;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.189887;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480620 rs182845462 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19804;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.T1568C:p.V523A,FLNC:NM_001458:exon10:c.T1568C:p.V523A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs182845462;CLNALLELEID=406967;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.065;MutationAssessor_score_rankscore=0.569;MutationAssessor_pred=M;FATHMM_score=-1.93;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.7;PROVEAN_converted_rankscore=0.576;PROVEAN_pred=D;VEST3_score=0.733;VEST3_rankscore=0.731;MetaSVM_score=0.625;MetaSVM_rankscore=0.922;MetaSVM_pred=D;MetaLR_score=0.746;MetaLR_rankscore=0.913;MetaLR_pred=D;M-CAP_score=0.182;M-CAP_rankscore=0.857;M-CAP_pred=D;REVEL_score=0.562;REVEL_rankscore=0.823;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.290;CADD_raw_rankscore=0.575;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.910;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.717;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.520;Eigen-PC-raw=0.495;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.29;GERP++_RS_rankscore=0.743;phyloP100way_vertebrate=6.276;phyloP100way_vertebrate_rankscore=0.724;phyloP20way_mammalian=0.964;phyloP20way_mammalian_rankscore=0.580;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.410;phastCons20way_mammalian_rankscore=0.256;SiPhy_29way_logOdds=15.232;SiPhy_29way_logOdds_rankscore=0.730;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.843246;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480666 rs76046880 C T 100 PASS AC=4;AF=0.0159744;AN=214;NS=2504;DP=18832;EAS_AF=0;AMR_AF=0.0144;AFR_AF=0.0053;EUR_AF=0.0388;SAS_AF=0.0245;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.C1614T:p.Y538Y,FLNC:NM_001458:exon10:c.C1614T:p.Y538Y;1000g2015aug_all=0.0159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76046880;CLNALLELEID=134528;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0347;ExAC_nontcga_ALL=0.0315;ExAC_nontcga_AFR=0.0114;ExAC_nontcga_AMR=0.0102;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0400;ExAC_nontcga_OTH=0.0275;ExAC_nontcga_SAS=0.0279;AF=0.0344;AF_popmax=0.0445;AF_male=0.0336;AF_female=0.0355;AF_raw=0.0346;AF_afr=0.0101;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0445;AF_fin=0.0676;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0482;non_neuro_AF_popmax=0.0444;non_cancer_AF_popmax=.;controls_AF_popmax=0.0561;Kaviar_AF=0.0309698;Kaviar_AC=4788;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.853672;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480791 rs2291564 C G 100 PASS AC=27;AF=0.298123;AN=214;NS=2504;DP=17616;EAS_AF=0.4018;AMR_AF=0.1744;AFR_AF=0.4667;EUR_AF=0.1143;SAS_AF=0.2403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.298123;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291564;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1963;AF_popmax=0.4236;AF_male=0.2021;AF_female=0.1890;AF_raw=0.1963;AF_afr=0.4236;AF_sas=.;AF_amr=0.1663;AF_eas=0.3574;AF_nfe=0.0914;AF_fin=0.0616;AF_asj=0.0729;AF_oth=0.1225;non_topmed_AF_popmax=0.4243;non_neuro_AF_popmax=0.4202;non_cancer_AF_popmax=.;controls_AF_popmax=0.4173;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128480793 rs566313575 GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 100 PASS AC=4;AF=0.019369;AN=214;NS=2504;DP=23473;EAS_AF=0.001;AMR_AF=0.0115;AFR_AF=0.0189;EUR_AF=0.0388;SAS_AF=0.0245;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566313575;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0385;AF_popmax=0.0442;AF_male=0.0379;AF_female=0.0392;AF_raw=0.0389;AF_afr=0.0257;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0442;AF_fin=0.0671;AF_asj=0.0208;AF_oth=0.0443;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0440;non_cancer_AF_popmax=.;controls_AF_popmax=0.0565;Kaviar_AF=0.0085677;Kaviar_AC=223;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.612602;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.019369;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs566313575;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0385;AF_popmax=0.0442;AF_male=0.0379;AF_female=0.0392;AF_raw=0.0389;AF_afr=0.0257;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0442;AF_fin=0.0671;AF_asj=0.0208;AF_oth=0.0443;non_topmed_AF_popmax=0.0481;non_neuro_AF_popmax=0.0440;non_cancer_AF_popmax=.;controls_AF_popmax=0.0565;Kaviar_AF=0.0085677;Kaviar_AC=223;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.612602;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481035 rs138716837 G T 100 PASS AC=2;AF=0.00239617;AN=214;NS=2504;DP=15336;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.003;EUR_AF=0.004;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138716837;CLNALLELEID=274749;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0059;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0065;ExAC_nontcga_SAS=0.0009;AF=0.0010;AF_popmax=0.0035;AF_male=0.0010;AF_female=0.0010;AF_raw=0.0010;AF_afr=0.0023;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008409;Kaviar_AC=130;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.198328;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481060 rs142756348 G A 100 PASS AC=6;AF=0.00459265;AN=214;NS=2504;DP=15154;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0.0061;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142756348;CLNALLELEID=252580;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0075;ExAC_nontcga_ALL=0.0077;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0139;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0084;ExAC_nontcga_NFE=0.0101;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0046;AF=0.0048;AF_popmax=0.0078;AF_male=0.0052;AF_female=0.0044;AF_raw=0.0048;AF_afr=0.0014;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0078;AF_fin=0.0026;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0068;non_neuro_AF_popmax=0.0081;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0052069;Kaviar_AC=805;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.235678;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481196 rs2291565 T C 100 PASS AC=8;AF=0.264976;AN=214;NS=2504;DP=15076;EAS_AF=0.378;AMR_AF=0.1585;AFR_AF=0.4493;EUR_AF=0.0358;SAS_AF=0.2106;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.264976;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291565;CLNALLELEID=252581;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.1302;ExAC_nontcga_AFR=0.4025;ExAC_nontcga_AMR=0.1766;ExAC_nontcga_EAS=0.3617;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0456;ExAC_nontcga_OTH=0.0809;ExAC_nontcga_SAS=0.1734;AF=0.1652;AF_popmax=0.4227;AF_male=0.1699;AF_female=0.1593;AF_raw=0.1650;AF_afr=0.4227;AF_sas=.;AF_amr=0.1450;AF_eas=0.3478;AF_nfe=0.0428;AF_fin=0.0265;AF_asj=0.0208;AF_oth=0.0812;non_topmed_AF_popmax=0.4233;non_neuro_AF_popmax=0.4219;non_cancer_AF_popmax=.;controls_AF_popmax=0.4192;Kaviar_AF=0.117418;Kaviar_AC=18153;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.552168;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481312 rs12536635 G A 100 PASS AC=1;AF=0.00159744;AN=214;NS=2504;DP=18458;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.004;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.G1902A:p.E634E,FLNC:NM_001458:exon12:c.G1902A:p.E634E;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12536635;CLNALLELEID=191201;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0065;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0007;AF=0.0037;AF_popmax=0.0064;AF_male=0.0040;AF_female=0.0032;AF_raw=0.0037;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0064;AF_fin=0;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0060;non_neuro_AF_popmax=0.0061;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.917557;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481386 rs576402053 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=18891;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.T1976G:p.L659R,FLNC:NM_001458:exon12:c.T1976G:p.L659R;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs576402053;CLNALLELEID=274249;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.824;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.53;Polyphen2_HDIV_rankscore=0.358;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.407;Polyphen2_HVAR_rankscore=0.429;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.399;LRT_pred=N;MutationTaster_score=0.899;MutationTaster_converted_rankscore=0.277;MutationTaster_pred=N;MutationAssessor_score=0.42;MutationAssessor_score_rankscore=0.125;MutationAssessor_pred=N;FATHMM_score=-2.87;FATHMM_converted_rankscore=0.915;FATHMM_pred=D;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.087;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=-0.462;MetaSVM_rankscore=0.700;MetaSVM_pred=T;MetaLR_score=0.465;MetaLR_rankscore=0.793;MetaLR_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.662;M-CAP_pred=D;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=0.486;MutPred_rankscore=0.570;CADD_raw=0.903;CADD_raw_rankscore=0.180;CADD_phred=10.10;DANN_score=0.700;DANN_rankscore=0.089;fathmm-MKL_coding_score=0.759;fathmm-MKL_coding_rankscore=0.369;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.696;Eigen-PC-raw=-0.544;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=2.79;GERP++_RS_rankscore=0.317;phyloP100way_vertebrate=1.845;phyloP100way_vertebrate_rankscore=0.387;phyloP20way_mammalian=0.158;phyloP20way_mammalian_rankscore=0.243;phastCons100way_vertebrate=0.985;phastCons100way_vertebrate_rankscore=0.357;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=3.523;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0027;AF=3.188e-05;AF_popmax=.;AF_male=5.729e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.909324;ALLELE_END;VINYL_score=5.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128481578 rs34972246 A C 100 PASS AC=1;AF=0.00199681;AN=214;NS=2504;DP=20237;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0008;EUR_AF=0.005;SAS_AF=0.0031;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon13:c.A2078C:p.D693A,FLNC:NM_001458:exon13:c.A2078C:p.D693A;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34972246;CLNALLELEID=252582;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.315;MutationAssessor_score_rankscore=0.908;MutationAssessor_pred=M;FATHMM_score=-1.98;FATHMM_converted_rankscore=0.853;FATHMM_pred=D;PROVEAN_score=-7.01;PROVEAN_converted_rankscore=0.938;PROVEAN_pred=D;VEST3_score=0.565;VEST3_rankscore=0.598;MetaSVM_score=0.786;MetaSVM_rankscore=0.942;MetaSVM_pred=D;MetaLR_score=0.782;MetaLR_rankscore=0.926;MetaLR_pred=D;M-CAP_score=0.352;M-CAP_rankscore=0.923;M-CAP_pred=D;REVEL_score=0.755;REVEL_rankscore=0.917;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.252;CADD_raw_rankscore=0.863;CADD_phred=28.9;DANN_score=0.995;DANN_rankscore=0.693;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.663;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.899;Eigen-PC-raw=0.828;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=5.57;GERP++_RS_rankscore=0.840;phyloP100way_vertebrate=5.855;phyloP100way_vertebrate_rankscore=0.690;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=15.731;SiPhy_29way_logOdds_rankscore=0.775;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0036;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0036;ExAC_nontcga_NFE=0.0059;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0015;AF=0.0032;AF_popmax=0.0040;AF_male=0.0033;AF_female=0.0030;AF_raw=0.0032;AF_afr=0.0017;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0029;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0035;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;Kaviar_AF=0.0033699;Kaviar_AC=521;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1414129|N/A|E2F1|PAZAR,OREG1511285|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911369;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482258 rs117577125 T C 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=16471;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117577125;CLNALLELEID=252583;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0058;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0016;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0058;ExAC_nontcga_OTH=0.0068;ExAC_nontcga_SAS=0.0019;AF=0.0032;AF_popmax=0.0055;AF_male=0.0031;AF_female=0.0033;AF_raw=0.0032;AF_afr=0.0008;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0055;AF_fin=0.0006;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0054;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0040;Kaviar_AF=0.0036028;Kaviar_AC=557;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1807084|N/A|RBL2|PAZAR,OREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.682487;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482440 rs2291566 C G 100 PASS AC=9;AF=0.267372;AN=214;NS=2504;DP=13765;EAS_AF=0.379;AMR_AF=0.1628;AFR_AF=0.4425;EUR_AF=0.0497;SAS_AF=0.2137;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.267372;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291566;CLNALLELEID=229550;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0515;ExAC_nontcga_ALL=0.1357;ExAC_nontcga_AFR=0.4055;ExAC_nontcga_AMR=0.1786;ExAC_nontcga_EAS=0.3602;ExAC_nontcga_FIN=0.0389;ExAC_nontcga_NFE=0.0541;ExAC_nontcga_OTH=0.0870;ExAC_nontcga_SAS=0.1707;AF=0.1719;AF_popmax=0.4199;AF_male=0.1757;AF_female=0.1672;AF_raw=0.1719;AF_afr=0.4199;AF_sas=.;AF_amr=0.1486;AF_eas=0.3453;AF_nfe=0.0539;AF_fin=0.0400;AF_asj=0.0241;AF_oth=0.0921;non_topmed_AF_popmax=0.4209;non_neuro_AF_popmax=0.4179;non_cancer_AF_popmax=.;controls_AF_popmax=0.4147;Kaviar_AF=0.124352;Kaviar_AC=19225;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.717984;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482806 rs111958241 G T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=12038;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111958241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0532;ExAC_nontcga_AFR=0.0085;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1411;ExAC_nontcga_NFE=0.0691;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.0413;AF=0.0334;AF_popmax=0.0447;AF_male=0.0324;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0675;AF_asj=0.0276;AF_oth=0.0435;non_topmed_AF_popmax=0.0486;non_neuro_AF_popmax=0.0447;non_cancer_AF_popmax=.;controls_AF_popmax=0.0570;Kaviar_AF=0.0295727;Kaviar_AC=4572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111958241;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0348;ExAC_nontcga_ALL=0.0532;ExAC_nontcga_AFR=0.0085;ExAC_nontcga_AMR=0.0212;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1411;ExAC_nontcga_NFE=0.0691;ExAC_nontcga_OTH=0.0444;ExAC_nontcga_SAS=0.0413;AF=0.0334;AF_popmax=0.0447;AF_male=0.0324;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0447;AF_fin=0.0675;AF_asj=0.0276;AF_oth=0.0435;non_topmed_AF_popmax=0.0486;non_neuro_AF_popmax=0.0447;non_cancer_AF_popmax=.;controls_AF_popmax=0.0570;Kaviar_AF=0.0295727;Kaviar_AC=4572;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128482834 rs71581921 C T 100 PASS AC=5;AF=0.00339457;AN=214;NS=2504;DP=13901;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0109;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71581921;CLNALLELEID=252589;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0115;ExAC_nontcga_AFR=0.0028;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0226;ExAC_nontcga_NFE=0.0176;ExAC_nontcga_OTH=0.0052;ExAC_nontcga_SAS=0.0017;AF=0.0085;AF_popmax=0.0104;AF_male=0.0084;AF_female=0.0088;AF_raw=0.0085;AF_afr=0.0030;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0104;AF_fin=0.0173;AF_asj=0.0241;AF_oth=0.0110;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;Kaviar_AF=0.0096635;Kaviar_AC=1494;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.784910;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 +7 128482835 rs78086167 C T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=14148;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs78086167;CLNALLELEID=252590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0362;ExAC_nontcga_AFR=0.0064;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0.0010;ExAC_nontcga_FIN=0.0894;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0358;ExAC_nontcga_SAS=0.0348;AF=0.0335;AF_popmax=0.0450;AF_male=0.0325;AF_female=0.0348;AF_raw=0.0336;AF_afr=0.0062;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0450;AF_fin=0.0677;AF_asj=0.0276;AF_oth=0.0433;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0572;Kaviar_AF=0.0304265;Kaviar_AC=4704;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511283|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.784910;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128483227 rs2291567 T C 100 PASS AC=34;AF=0.361821;AN=214;NS=2504;DP=18528;EAS_AF=0.4901;AMR_AF=0.2219;AFR_AF=0.5408;EUR_AF=0.1561;SAS_AF=0.2986;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.361821;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1647;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2808;AF_popmax=0.5181;AF_male=0.2855;AF_female=0.2748;AF_raw=0.2812;AF_afr=0.5181;AF_sas=.;AF_amr=0.2080;AF_eas=0.4556;AF_nfe=0.1734;AF_fin=0.1387;AF_asj=0.1414;AF_oth=0.2020;non_topmed_AF_popmax=0.5196;non_neuro_AF_popmax=0.5219;non_cancer_AF_popmax=.;controls_AF_popmax=0.5195;Kaviar_AF=0.223336;Kaviar_AC=5813;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128483635 rs146715204 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18914;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146715204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0012;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.492e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.127e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511287|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.811524;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484373 rs528634077 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17775;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs528634077;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511287|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.841478;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484816 rs3734973 A G 100 PASS AC=34;AF=0.379992;AN=214;NS=2504;DP=19215;EAS_AF=0.4891;AMR_AF=0.2248;AFR_AF=0.6082;EUR_AF=0.1551;SAS_AF=0.3006;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.A3297G:p.V1099V,FLNC:NM_001458:exon21:c.A3297G:p.V1099V;1000g2015aug_all=0.379992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3734973;CLNALLELEID=134530;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1648;ExAC_nontcga_ALL=0.2365;ExAC_nontcga_AFR=0.5544;ExAC_nontcga_AMR=0.2245;ExAC_nontcga_EAS=0.4564;ExAC_nontcga_FIN=0.1367;ExAC_nontcga_NFE=0.1635;ExAC_nontcga_OTH=0.1826;ExAC_nontcga_SAS=0.2603;AF=0.2927;AF_popmax=0.5630;AF_male=0.2989;AF_female=0.2848;AF_raw=0.2929;AF_afr=0.5630;AF_sas=.;AF_amr=0.2182;AF_eas=0.4535;AF_nfe=0.1725;AF_fin=0.1378;AF_asj=0.1414;AF_oth=0.2026;non_topmed_AF_popmax=0.5643;non_neuro_AF_popmax=0.5661;non_cancer_AF_popmax=.;controls_AF_popmax=0.5632;Kaviar_AF=0.227856;Kaviar_AC=35227;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.911154;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128484977 rs138663492 T G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19819;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.T3458G:p.F1153C,FLNC:NM_001458:exon21:c.T3458G:p.F1153C;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138663492;CLNALLELEID=361643;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.254;SIFT_converted_rankscore=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.919;Polyphen2_HVAR_rankscore=0.790;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_score_rankscore=0.547;MutationAssessor_pred=M;FATHMM_score=-1.8;FATHMM_converted_rankscore=0.839;FATHMM_pred=D;PROVEAN_score=-5.01;PROVEAN_converted_rankscore=0.842;PROVEAN_pred=D;VEST3_score=0.754;VEST3_rankscore=0.749;MetaSVM_score=0.298;MetaSVM_rankscore=0.875;MetaSVM_pred=D;MetaLR_score=0.667;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.285;M-CAP_rankscore=0.904;M-CAP_pred=D;REVEL_score=0.749;REVEL_rankscore=0.915;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.089;CADD_raw_rankscore=0.431;CADD_phred=22.5;DANN_score=0.984;DANN_rankscore=0.406;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.884;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.615;Eigen-PC-raw=0.582;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=7.669;phyloP100way_vertebrate_rankscore=0.827;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=15.714;SiPhy_29way_logOdds_rankscore=0.773;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.577e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.922e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.361e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=6.369e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.903659;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128485240 rs146953558 C T 100 PASS AC=2;AF=0.00199681;AN=214;NS=2504;DP=18972;EAS_AF=0.001;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.007;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.C3721T:p.R1241C,FLNC:NM_001458:exon21:c.C3721T:p.R1241C;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146953558;CLNALLELEID=252593;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.037;SIFT_converted_rankscore=0.430;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.84;Polyphen2_HVAR_rankscore=0.584;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.431;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.22;MutationAssessor_score_rankscore=0.631;MutationAssessor_pred=M;FATHMM_score=-2.89;FATHMM_converted_rankscore=0.916;FATHMM_pred=D;PROVEAN_score=-4.02;PROVEAN_converted_rankscore=0.745;PROVEAN_pred=D;VEST3_score=0.579;VEST3_rankscore=0.609;MetaSVM_score=0.668;MetaSVM_rankscore=0.928;MetaSVM_pred=D;MetaLR_score=0.789;MetaLR_rankscore=0.928;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.563;REVEL_rankscore=0.823;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.769;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.632;fathmm-MKL_coding_rankscore=0.317;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.153;Eigen-PC-raw=0.166;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.56;GERP++_RS_rankscore=0.836;phyloP100way_vertebrate=0.819;phyloP100way_vertebrate_rankscore=0.268;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.007;phastCons100way_vertebrate_rankscore=0.175;phastCons20way_mammalian=0.985;phastCons20way_mammalian_rankscore=0.512;SiPhy_29way_logOdds=19.527;SiPhy_29way_logOdds_rankscore=0.952;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0095;ExAC_nontcga_ALL=0.0061;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0108;ExAC_nontcga_NFE=0.0092;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0024;AF=0.0080;AF_popmax=0.0116;AF_male=0.0079;AF_female=0.0080;AF_raw=0.0080;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0116;AF_fin=0.0138;AF_asj=0;AF_oth=0.0101;non_topmed_AF_popmax=0.0120;non_neuro_AF_popmax=0.0109;non_cancer_AF_popmax=.;controls_AF_popmax=0.0121;Kaviar_AF=0.0064035;Kaviar_AC=990;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.927642;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486091 rs34180031 C T 100 PASS AC=4;AF=0.0197684;AN=214;NS=2504;DP=14475;EAS_AF=0;AMR_AF=0.0115;AFR_AF=0.0197;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon22:c.C3838T:p.L1280L,FLNC:NM_001458:exon22:c.C3838T:p.L1280L;1000g2015aug_all=0.0197684;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34180031;CLNALLELEID=134533;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0345;ExAC_nontcga_ALL=0.0332;ExAC_nontcga_AFR=0.0232;ExAC_nontcga_AMR=0.0096;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0710;ExAC_nontcga_NFE=0.0403;ExAC_nontcga_OTH=0.0308;ExAC_nontcga_SAS=0.0316;AF=0.0392;AF_popmax=0.0451;AF_male=0.0386;AF_female=0.0400;AF_raw=0.0392;AF_afr=0.0260;AF_sas=.;AF_amr=0.0177;AF_eas=0;AF_nfe=0.0451;AF_fin=0.0676;AF_asj=0.0278;AF_oth=0.0470;non_topmed_AF_popmax=0.0491;non_neuro_AF_popmax=0.0450;non_cancer_AF_popmax=.;controls_AF_popmax=0.0575;Kaviar_AF=0.0322117;Kaviar_AC=4980;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.724262;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486252 rs138334624 T TGGGCAGGTGGGCAGGGCC 100 PASS AC=8;AF=0.158147;AN=214;NS=2504;DP=14451;EAS_AF=0.3224;AMR_AF=0.1311;AFR_AF=0.1959;EUR_AF=0.0318;SAS_AF=0.0869;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.158147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138334624;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0411;ExAC_nontcga_ALL=0.0911;ExAC_nontcga_AFR=0.1706;ExAC_nontcga_AMR=0.1613;ExAC_nontcga_EAS=0.3189;ExAC_nontcga_FIN=0.0244;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0619;ExAC_nontcga_SAS=0.0836;AF=0.0932;AF_popmax=0.2972;AF_male=0.0953;AF_female=0.0905;AF_raw=0.0933;AF_afr=0.1789;AF_sas=.;AF_amr=0.1274;AF_eas=0.2972;AF_nfe=0.0410;AF_fin=0.0279;AF_asj=0.0207;AF_oth=0.0572;non_topmed_AF_popmax=0.2947;non_neuro_AF_popmax=0.2972;non_cancer_AF_popmax=.;controls_AF_popmax=0.3;Kaviar_AF=0.0023286;Kaviar_AC=360;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486363 rs34373805 C T 100 PASS AC=35;AF=0.346046;AN=214;NS=2504;DP=15949;EAS_AF=0.4335;AMR_AF=0.2291;AFR_AF=0.6006;EUR_AF=0.1511;SAS_AF=0.1953;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C3973T:p.L1325L,FLNC:NM_001458:exon23:c.C3973T:p.L1325L;1000g2015aug_all=0.346046;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34373805;CLNALLELEID=134534;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1622;ExAC_nontcga_ALL=0.2310;ExAC_nontcga_AFR=0.5514;ExAC_nontcga_AMR=0.2248;ExAC_nontcga_EAS=0.4183;ExAC_nontcga_FIN=0.1685;ExAC_nontcga_NFE=0.1718;ExAC_nontcga_OTH=0.1894;ExAC_nontcga_SAS=0.2018;AF=0.2922;AF_popmax=0.5581;AF_male=0.2984;AF_female=0.2846;AF_raw=0.2926;AF_afr=0.5581;AF_sas=.;AF_amr=0.2158;AF_eas=0.4100;AF_nfe=0.1723;AF_fin=0.1618;AF_asj=0.1655;AF_oth=0.2153;non_topmed_AF_popmax=0.5599;non_neuro_AF_popmax=0.5611;non_cancer_AF_popmax=.;controls_AF_popmax=0.5568;Kaviar_AF=0.221077;Kaviar_AC=34179;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.24053::-0.266123;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.817214;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486412 rs149641783 G A 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16953;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.G4022A:p.R1341Q,FLNC:NM_001458:exon23:c.G4022A:p.R1341Q;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149641783;CLNALLELEID=192902;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.572;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.559;Polyphen2_HVAR_rankscore=0.477;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.451;MutationTaster_pred=D;MutationAssessor_score=1.76;MutationAssessor_score_rankscore=0.459;MutationAssessor_pred=L;FATHMM_score=-1.89;FATHMM_converted_rankscore=0.846;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_converted_rankscore=0.262;PROVEAN_pred=N;VEST3_score=0.587;VEST3_rankscore=0.615;MetaSVM_score=-0.191;MetaSVM_rankscore=0.779;MetaSVM_pred=T;MetaLR_score=0.501;MetaLR_rankscore=0.812;MetaLR_pred=D;M-CAP_score=0.255;M-CAP_rankscore=0.893;M-CAP_pred=D;REVEL_score=0.487;REVEL_rankscore=0.778;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.915;CADD_raw_rankscore=0.812;CADD_phred=27.5;DANN_score=0.992;DANN_rankscore=0.540;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_rankscore=0.718;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.236;Eigen-PC-raw=0.354;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.07;GERP++_RS_rankscore=0.680;phyloP100way_vertebrate=8.125;phyloP100way_vertebrate_rankscore=0.894;phyloP20way_mammalian=0.949;phyloP20way_mammalian_rankscore=0.536;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=18.451;SiPhy_29way_logOdds_rankscore=0.906;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0018;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0006;AF=0.0001;AF_popmax=0.0012;AF_male=0.0001;AF_female=0.0001;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000925;Kaviar_AC=143;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.869129;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 128486446 rs75770585 C T 100 PASS AC=8;AF=0.160543;AN=214;NS=2504;DP=17535;EAS_AF=0.3234;AMR_AF=0.1354;AFR_AF=0.2012;EUR_AF=0.0328;SAS_AF=0.0869;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C4056T:p.R1352R,FLNC:NM_001458:exon23:c.C4056T:p.R1352R;1000g2015aug_all=0.160543;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75770585;CLNALLELEID=134535;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0401;ExAC_nontcga_ALL=0.0928;ExAC_nontcga_AFR=0.1748;ExAC_nontcga_AMR=0.1655;ExAC_nontcga_EAS=0.3285;ExAC_nontcga_FIN=0.0234;ExAC_nontcga_NFE=0.0428;ExAC_nontcga_OTH=0.0643;ExAC_nontcga_SAS=0.0836;AF=0.0936;AF_popmax=0.3067;AF_male=0.0959;AF_female=0.0907;AF_raw=0.0937;AF_afr=0.1817;AF_sas=.;AF_amr=0.1274;AF_eas=0.3067;AF_nfe=0.0395;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0609;non_topmed_AF_popmax=0.3045;non_neuro_AF_popmax=0.3067;non_cancer_AF_popmax=.;controls_AF_popmax=0.3070;Kaviar_AF=0.0846626;Kaviar_AC=13089;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.751165;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128486579 rs117927520 C T 100 PASS AC=2;AF=0.0091853;AN=214;NS=2504;DP=18245;EAS_AF=0;AMR_AF=0.0216;AFR_AF=0.0023;EUR_AF=0.0219;SAS_AF=0.0061;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0091853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117927520;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0144;AF_popmax=0.0191;AF_male=0.0146;AF_female=0.0142;AF_raw=0.0145;AF_afr=0.0033;AF_sas=.;AF_amr=0.0094;AF_eas=0;AF_nfe=0.0191;AF_fin=0.0279;AF_asj=0.0103;AF_oth=0.0193;non_topmed_AF_popmax=0.0201;non_neuro_AF_popmax=0.0191;non_cancer_AF_popmax=.;controls_AF_popmax=0.0212;Kaviar_AF=0.0028784;Kaviar_AC=445;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511289|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.382266;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128487866 rs2249128 T C 100 PASS AC=214;AF=0.990615;AN=214;NS=2504;DP=15908;EAS_AF=1;AMR_AF=0.9957;AFR_AF=0.9675;EUR_AF=0.999;SAS_AF=1;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D;1000g2015aug_all=0.990615;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2249128;CLNALLELEID=229552;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=1;ExAC_nontcga_ALL=0.9974;ExAC_nontcga_AFR=0.9699;ExAC_nontcga_AMR=0.9988;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=0.9999;ExAC_nontcga_OTH=0.9986;ExAC_nontcga_SAS=0.9999;AF=0.9916;AF_popmax=1;AF_male=0.9908;AF_female=0.9926;AF_raw=0.9916;AF_afr=0.9706;AF_sas=.;AF_amr=0.9953;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9991;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.942122;Kaviar_AC=145654;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.845580;ALLELE_END;VINYL_score=-1 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 128487893 rs2291568 G A 100 PASS AC=8;AF=0.257788;AN=214;NS=2504;DP=15695;EAS_AF=0.378;AMR_AF=0.1556;AFR_AF=0.4228;EUR_AF=0.0358;SAS_AF=0.2117;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.G4431A:p.L1477L,FLNC:NM_001458:exon25:c.G4431A:p.L1477L;1000g2015aug_all=0.257788;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291568;CLNALLELEID=134536;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0433;ExAC_nontcga_ALL=0.1276;ExAC_nontcga_AFR=0.3780;ExAC_nontcga_AMR=0.1757;ExAC_nontcga_EAS=0.3617;ExAC_nontcga_FIN=0.0235;ExAC_nontcga_NFE=0.0455;ExAC_nontcga_OTH=0.0804;ExAC_nontcga_SAS=0.1701;AF=0.1571;AF_popmax=0.3950;AF_male=0.1612;AF_female=0.1519;AF_raw=0.1574;AF_afr=0.3950;AF_sas=.;AF_amr=0.1427;AF_eas=0.3426;AF_nfe=0.0426;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0801;non_topmed_AF_popmax=0.3957;non_neuro_AF_popmax=0.3925;non_cancer_AF_popmax=.;controls_AF_popmax=0.3899;Kaviar_AF=0.115917;Kaviar_AC=17921;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.841626;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488072 rs565243603 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15742;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon26:c.C4530T:p.D1510D,FLNC:NM_001458:exon26:c.C4530T:p.D1510D;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565243603;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.475e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.886e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=0.0006;AF_male=0;AF_female=7.187e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.796056;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488734 rs2291569 G A 100 PASS AC=21;AF=0.0625;AN=214;NS=2504;DP=15225;EAS_AF=0.1111;AMR_AF=0.0447;AFR_AF=0.0106;EUR_AF=0.0765;SAS_AF=0.0808;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon27:c.G4700A:p.R1567Q,FLNC:NM_001458:exon27:c.G4700A:p.R1567Q;1000g2015aug_all=0.0625;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2291569;CLNALLELEID=134537;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.067;SIFT_converted_rankscore=0.433;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_converted_rankscore=0.469;MutationTaster_pred=P;MutationAssessor_score=3.005;MutationAssessor_score_rankscore=0.862;MutationAssessor_pred=M;FATHMM_score=-2.08;FATHMM_converted_rankscore=0.860;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_converted_rankscore=0.480;PROVEAN_pred=N;VEST3_score=0.17;VEST3_rankscore=0.241;MetaSVM_score=-0.467;MetaSVM_rankscore=0.699;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.340;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.383;REVEL_rankscore=0.704;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.924;CADD_raw_rankscore=0.662;CADD_phred=25.0;DANN_score=0.999;DANN_rankscore=0.973;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_rankscore=0.429;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.455;Eigen-PC-raw=0.334;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=2.514;phyloP100way_vertebrate_rankscore=0.449;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.090;phastCons100way_vertebrate_rankscore=0.224;phastCons20way_mammalian=0.015;phastCons20way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=12.724;SiPhy_29way_logOdds_rankscore=0.564;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold;GTEx_V6p_gene=ENSG00000128596.12;GTEx_V6p_tissue=Brain_Cerebellum;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0850;ExAC_nontcga_ALL=0.0750;ExAC_nontcga_AFR=0.0198;ExAC_nontcga_AMR=0.0341;ExAC_nontcga_EAS=0.0933;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0871;ExAC_nontcga_OTH=0.0712;ExAC_nontcga_SAS=0.0849;AF=0.0676;AF_popmax=0.1080;AF_male=0.0681;AF_female=0.0669;AF_raw=0.0675;AF_afr=0.0214;AF_sas=.;AF_amr=0.0401;AF_eas=0.1080;AF_nfe=0.0889;AF_fin=0.0679;AF_asj=0.1138;AF_oth=0.0847;non_topmed_AF_popmax=0.1061;non_neuro_AF_popmax=0.1080;non_cancer_AF_popmax=.;controls_AF_popmax=0.1018;Kaviar_AF=0.0760145;Kaviar_AC=11752;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.753541;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128488800 rs74811088 G A 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=14060;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74811088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0334;AF_popmax=0.0449;AF_male=0.0326;AF_female=0.0344;AF_raw=0.0335;AF_afr=0.0060;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0449;AF_fin=0.0674;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0448;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0306206;Kaviar_AC=4734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.458778;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74811088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0334;AF_popmax=0.0449;AF_male=0.0326;AF_female=0.0344;AF_raw=0.0335;AF_afr=0.0060;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0449;AF_fin=0.0674;AF_asj=0.0276;AF_oth=0.0441;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0448;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0306206;Kaviar_AC=4734;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d96.458778;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490012 rs372184893 C T 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=16826;EAS_AF=0;AMR_AF=0;AFR_AF=0.0023;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372184893;CLNALLELEID=252597;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.969e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0013;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0013;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR,OREG1948233|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.629189;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490553 rs13227216 T C 100 PASS AC=37;AF=0.403355;AN=214;NS=2504;DP=20888;EAS_AF=0.4891;AMR_AF=0.2478;AFR_AF=0.649;EUR_AF=0.1799;SAS_AF=0.3231;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.403355;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs13227216;CLNALLELEID=252600;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1900;ExAC_nontcga_ALL=0.2659;ExAC_nontcga_AFR=0.6013;ExAC_nontcga_AMR=0.2354;ExAC_nontcga_EAS=0.4543;ExAC_nontcga_FIN=0.1905;ExAC_nontcga_NFE=0.1952;ExAC_nontcga_OTH=0.2087;ExAC_nontcga_SAS=0.2906;AF=0.3310;AF_popmax=0.6126;AF_male=0.3365;AF_female=0.3241;AF_raw=0.3312;AF_afr=0.6126;AF_sas=.;AF_amr=0.2352;AF_eas=0.4511;AF_nfe=0.2066;AF_fin=0.1901;AF_asj=0.1655;AF_oth=0.2399;non_topmed_AF_popmax=0.6146;non_neuro_AF_popmax=0.6201;non_cancer_AF_popmax=.;controls_AF_popmax=0.6182;Kaviar_AF=0.25347;Kaviar_AC=39187;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.287879::-0.253088;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128490926 rs140857707 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=19492;EAS_AF=0.002;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon32:c.C5369T:p.T1790M,FLNC:NM_001458:exon33:c.C5468T:p.T1823M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140857707;CLNALLELEID=561488;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.013;SIFT_converted_rankscore=0.564;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.985;MutationAssessor_score_rankscore=0.859;MutationAssessor_pred=M;FATHMM_score=-2.06;FATHMM_converted_rankscore=0.859;FATHMM_pred=D;PROVEAN_score=-5.19;PROVEAN_converted_rankscore=0.836;PROVEAN_pred=D;VEST3_score=0.799;VEST3_rankscore=0.789;MetaSVM_score=0.699;MetaSVM_rankscore=0.932;MetaSVM_pred=D;MetaLR_score=0.784;MetaLR_rankscore=0.927;MetaLR_pred=D;M-CAP_score=0.221;M-CAP_rankscore=0.878;M-CAP_pred=D;REVEL_score=0.617;REVEL_rankscore=0.853;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.676;CADD_raw_rankscore=0.774;CADD_phred=26.7;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.927;fathmm-MKL_coding_rankscore=0.561;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.793;Eigen-PC-raw=0.755;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=4.052;phyloP100way_vertebrate_rankscore=0.569;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=19.447;SiPhy_29way_logOdds_rankscore=0.948;Interpro_domain=Immunoglobulin_E-set|Immunoglobulin-like_fold\x3bImmunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.735e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0001;AF_popmax=0.0002;AF_male=5.739e-05;AF_female=0.0002;AF_raw=0.0001;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1511286|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.911903;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128491497 rs79790270 C T 100 PASS AC=4;AF=0.0147764;AN=214;NS=2504;DP=19785;EAS_AF=0;AMR_AF=0.0101;AFR_AF=0.0015;EUR_AF=0.0378;SAS_AF=0.0276;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79790270;CLNALLELEID=252601;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0004;dbscSNV_RF_SCORE=0.03;esp6500siv2_ea=0.0352;ExAC_nontcga_ALL=0.0316;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0092;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0702;ExAC_nontcga_NFE=0.0402;ExAC_nontcga_OTH=0.0304;ExAC_nontcga_SAS=0.0315;AF=0.0335;AF_popmax=0.0450;AF_male=0.0326;AF_female=0.0346;AF_raw=0.0335;AF_afr=0.0061;AF_sas=.;AF_amr=0.0165;AF_eas=0;AF_nfe=0.0450;AF_fin=0.0676;AF_asj=0.0276;AF_oth=0.0442;non_topmed_AF_popmax=0.0488;non_neuro_AF_popmax=0.0449;non_cancer_AF_popmax=.;controls_AF_popmax=0.0573;Kaviar_AF=0.0308534;Kaviar_AC=4770;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.588695;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128491603 rs3816884 T C 100 PASS AC=8;AF=0.288938;AN=214;NS=2504;DP=20776;EAS_AF=0.378;AMR_AF=0.1671;AFR_AF=0.534;EUR_AF=0.0368;SAS_AF=0.2117;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon34:c.T5664C:p.T1888T,FLNC:NM_001458:exon35:c.T5763C:p.T1921T;1000g2015aug_all=0.288938;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816884;CLNALLELEID=134540;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0448;ExAC_nontcga_ALL=0.1371;ExAC_nontcga_AFR=0.4739;ExAC_nontcga_AMR=0.1800;ExAC_nontcga_EAS=0.3615;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0458;ExAC_nontcga_OTH=0.0850;ExAC_nontcga_SAS=0.1697;AF=0.1840;AF_popmax=0.4890;AF_male=0.1900;AF_female=0.1764;AF_raw=0.1843;AF_afr=0.4890;AF_sas=.;AF_amr=0.1557;AF_eas=0.3442;AF_nfe=0.0430;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0855;non_topmed_AF_popmax=0.4899;non_neuro_AF_popmax=0.4950;non_cancer_AF_popmax=.;controls_AF_popmax=0.4934;Kaviar_AF=0.126001;Kaviar_AC=19480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.571013;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128492817 rs117653869 G A 100 PASS AC=1;AF=0.00399361;AN=214;NS=2504;DP=17119;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0149;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117653869;CLNALLELEID=252603;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0021;AF=0.0065;AF_popmax=0.0103;AF_male=0.0062;AF_female=0.0070;AF_raw=0.0066;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0037;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.608845;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117653869;CLNALLELEID=252603;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0128;ExAC_nontcga_ALL=0.0070;ExAC_nontcga_AFR=0.0025;ExAC_nontcga_AMR=0.0064;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0041;ExAC_nontcga_NFE=0.0107;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0021;AF=0.0065;AF_popmax=0.0103;AF_male=0.0062;AF_female=0.0070;AF_raw=0.0066;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0103;AF_fin=0.0037;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0090;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0078;Kaviar_AF=0.0075096;Kaviar_AC=1161;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.608845;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128492825 rs12530507 G A 100 PASS AC=1;AF=0.00479233;AN=214;NS=2504;DP=17038;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.0199;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12530507;CLNALLELEID=252604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0014;AF=0.0125;AF_popmax=0.0180;AF_male=0.0132;AF_female=0.0116;AF_raw=0.0125;AF_afr=0.0047;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0150;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0170;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0127295;Kaviar_AC=1968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.784642;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00479233;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12530507;CLNALLELEID=252604;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0172;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0099;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0129;ExAC_nontcga_NFE=0.0191;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0014;AF=0.0125;AF_popmax=0.0180;AF_male=0.0132;AF_female=0.0116;AF_raw=0.0125;AF_afr=0.0047;AF_sas=.;AF_amr=0.0107;AF_eas=0;AF_nfe=0.0180;AF_fin=0.0150;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.0170;non_neuro_AF_popmax=0.0177;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;Kaviar_AF=0.0127295;Kaviar_AC=1968;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.784642;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128495338 rs3816885 C T 100 PASS AC=9;AF=0.258786;AN=214;NS=2504;DP=18935;EAS_AF=0.378;AMR_AF=0.1571;AFR_AF=0.4244;EUR_AF=0.0378;SAS_AF=0.2117;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon42:c.C7122T:p.D2374D,FLNC:NM_001458:exon43:c.C7221T:p.D2407D;1000g2015aug_all=0.258786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3816885;CLNALLELEID=134543;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0436;ExAC_nontcga_ALL=0.1276;ExAC_nontcga_AFR=0.3800;ExAC_nontcga_AMR=0.1753;ExAC_nontcga_EAS=0.3594;ExAC_nontcga_FIN=0.0230;ExAC_nontcga_NFE=0.0454;ExAC_nontcga_OTH=0.0797;ExAC_nontcga_SAS=0.1702;AF=0.1573;AF_popmax=0.3964;AF_male=0.1616;AF_female=0.1519;AF_raw=0.1577;AF_afr=0.3964;AF_sas=.;AF_amr=0.1427;AF_eas=0.3438;AF_nfe=0.0424;AF_fin=0.0265;AF_asj=0.0207;AF_oth=0.0790;non_topmed_AF_popmax=0.3973;non_neuro_AF_popmax=0.3936;non_cancer_AF_popmax=.;controls_AF_popmax=0.3913;Kaviar_AF=0.117101;Kaviar_AC=18104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.788221;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128497040 rs553998797 C T 100 PASS AC=1;AF=0.00638978;AN=214;NS=2504;DP=18913;EAS_AF=0;AMR_AF=0.0029;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0245;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs553998797;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0082;AF_male=0.0048;AF_female=0.0052;AF_raw=0.0049;AF_afr=0.0015;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0082;AF_fin=0.0014;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0082;non_neuro_AF_popmax=0.0077;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;Kaviar_AF=0.0014489;Kaviar_AC=224;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.648942;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128498228 rs368849358 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19214;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon46:c.C7848T:p.F2616F,FLNC:NM_001458:exon47:c.C7947T:p.F2649F;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368849358;CLNALLELEID=252605;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0004;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=0.0008;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0008;AF_raw=0.0008;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.884349;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 128498630 rs538213357;rs145777348 TACACAC TACAC,T 100 PASS AC=16,25;AF=0.209864,0.0890575;AN=214;NS=2504;DP=17945;EAS_AF=0.3284,0.1101;AMR_AF=0.1686,0.0548;AFR_AF=0.2663,0.0832;EUR_AF=0.0875,0.0924;SAS_AF=0.1667,0.0961;VT=INDEL;MULTI_ALLELIC;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FLNC;GeneDetail.refGene=NM_001458:c.*58_*59delAC\x3bNM_001127487:c.*58_*59delAC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.391891;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=FLNC;GeneDetail.refGene=NM_001458:c.*54_*59delACACAC\x3bNM_001127487:c.*54_*59delACACAC;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0890575;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145777348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1025;AF_popmax=0.1107;AF_male=0.1037;AF_female=0.1011;AF_raw=0.0951;AF_afr=0.0862;AF_sas=.;AF_amr=0.0689;AF_eas=0.1107;AF_nfe=0.1095;AF_fin=0.1138;AF_asj=0.1328;AF_oth=0.1154;non_topmed_AF_popmax=0.1137;non_neuro_AF_popmax=0.1107;non_cancer_AF_popmax=.;controls_AF_popmax=0.1108;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.391891;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 2|2 1|2 0|0 0|0 0|0 0|0 0|2 0|0 0|0 2|0 0|2 2|0 2|0 0|0 0|1 0|0 2|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 2|0 0|0 0|2 0|0 0|0 1|0 0|0 0|1 1|0 1|0 0|0 0|0 0|0 0|0 1|2 0|0 0|2 0|0 0|0 0|0 0|0 0|2 0|2 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 2|0 1|0 0|0 0|0 0|0 0|0 0|0 0|2 2|0 2|2 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|2 1|0 0|0 0|0 0|1 0|0 0|2 0|0 0|1 0|0 0|0 0|2 0|0 0|0 0|0 0|0 2|0 0|0 2|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136699781 rs143842239 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19513;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.G169A:p.V57I,CHRM2:NM_001006627:exon3:c.G169A:p.V57I,CHRM2:NM_001006628:exon3:c.G169A:p.V57I,CHRM2:NM_001006632:exon3:c.G169A:p.V57I,CHRM2:NM_000739:exon4:c.G169A:p.V57I,CHRM2:NM_001006630:exon4:c.G169A:p.V57I,CHRM2:NM_001006631:exon4:c.G169A:p.V57I,CHRM2:NM_001006626:exon5:c.G169A:p.V57I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143842239;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.08;SIFT_converted_rankscore=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.683;Polyphen2_HVAR_rankscore=0.517;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_score_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=2.13;FATHMM_converted_rankscore=0.196;FATHMM_pred=T;PROVEAN_score=-0.9;PROVEAN_converted_rankscore=0.242;PROVEAN_pred=N;VEST3_score=0.532;VEST3_rankscore=0.575;MetaSVM_score=-1.086;MetaSVM_rankscore=0.062;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.356;MetaLR_pred=T;M-CAP_score=0.015;M-CAP_rankscore=0.360;M-CAP_pred=T;REVEL_score=0.247;REVEL_rankscore=0.559;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.382;CADD_raw_rankscore=0.587;CADD_phred=24.1;DANN_score=0.998;DANN_rankscore=0.850;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.893;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.730;Eigen-PC-raw=0.751;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.32;GERP++_RS_rankscore=0.753;phyloP100way_vertebrate=9.899;phyloP100way_vertebrate_rankscore=0.986;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=19.053;SiPhy_29way_logOdds_rankscore=0.930;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=8.491e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.369e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=9.573e-05;AF_popmax=0.0002;AF_male=5.733e-05;AF_female=0.0001;AF_raw=9.549e-05;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0008;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.221010;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700303 rs76394680 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20949;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.G691A:p.V231I,CHRM2:NM_001006627:exon3:c.G691A:p.V231I,CHRM2:NM_001006628:exon3:c.G691A:p.V231I,CHRM2:NM_001006632:exon3:c.G691A:p.V231I,CHRM2:NM_000739:exon4:c.G691A:p.V231I,CHRM2:NM_001006630:exon4:c.G691A:p.V231I,CHRM2:NM_001006631:exon4:c.G691A:p.V231I,CHRM2:NM_001006626:exon5:c.G691A:p.V231I;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76394680;CLNALLELEID=229555;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.196;SIFT_converted_rankscore=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_rankscore=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.251;LRT_converted_rankscore=0.155;LRT_pred=N;MutationTaster_score=0.931;MutationTaster_converted_rankscore=0.370;MutationTaster_pred=D;MutationAssessor_score=0.665;MutationAssessor_score_rankscore=0.163;MutationAssessor_pred=N;FATHMM_score=0.16;FATHMM_converted_rankscore=0.606;FATHMM_pred=T;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.058;VEST3_rankscore=0.080;MetaSVM_score=-0.982;MetaSVM_rankscore=0.346;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.360;MetaLR_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.154;M-CAP_pred=T;REVEL_score=0.047;REVEL_rankscore=0.133;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.077;CADD_raw_rankscore=0.311;CADD_phred=16.71;DANN_score=0.975;DANN_rankscore=0.335;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_rankscore=0.511;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.102;Eigen-PC-raw=0.099;GenoCanyon_score=0.343;GenoCanyon_score_rankscore=0.196;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.4;GERP++_RS_rankscore=0.779;phyloP100way_vertebrate=2.867;phyloP100way_vertebrate_rankscore=0.479;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.572;phastCons20way_mammalian_rankscore=0.283;SiPhy_29way_logOdds=12.505;SiPhy_29way_logOdds_rankscore=0.551;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0049;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0040;ExAC_nontcga_NFE=0.0044;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0;AF=0.0040;AF_popmax=0.0066;AF_male=0.0043;AF_female=0.0037;AF_raw=0.0040;AF_afr=0.0009;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0066;AF_fin=0.0032;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0065;non_neuro_AF_popmax=0.0065;non_cancer_AF_popmax=.;controls_AF_popmax=0.0065;Kaviar_AF=0.0031694;Kaviar_AC=490;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.373524;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700385 rs142006633 A G 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19195;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0008;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.A773G:p.N258S,CHRM2:NM_001006627:exon3:c.A773G:p.N258S,CHRM2:NM_001006628:exon3:c.A773G:p.N258S,CHRM2:NM_001006632:exon3:c.A773G:p.N258S,CHRM2:NM_000739:exon4:c.A773G:p.N258S,CHRM2:NM_001006630:exon4:c.A773G:p.N258S,CHRM2:NM_001006631:exon4:c.A773G:p.N258S,CHRM2:NM_001006626:exon5:c.A773G:p.N258S;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142006633;CLNALLELEID=229556;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.957;SIFT_converted_rankscore=0.021;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.623;LRT_converted_rankscore=0.107;LRT_pred=N;MutationTaster_score=0.929;MutationTaster_converted_rankscore=0.271;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_score_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=0.11;FATHMM_converted_rankscore=0.612;FATHMM_pred=T;PROVEAN_score=-0.09;PROVEAN_converted_rankscore=0.084;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.012;MetaSVM_score=-1.004;MetaSVM_rankscore=0.289;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.208;MetaLR_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.202;M-CAP_pred=T;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.074;CADD_raw_rankscore=0.029;CADD_phred=0.011;DANN_score=0.764;DANN_rankscore=0.111;fathmm-MKL_coding_score=0.678;fathmm-MKL_coding_rankscore=0.333;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.523;Eigen-PC-raw=-0.273;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.091;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=4.26;GERP++_RS_rankscore=0.497;phyloP100way_vertebrate=1.684;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=6.601;SiPhy_29way_logOdds_rankscore=0.218;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0008;AF=0.0005;AF_popmax=0.0024;AF_male=0.0003;AF_female=0.0007;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0014165;Kaviar_AC=219;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.345054;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 136700726 rs138806839 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=19130;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CHRM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CHRM2:NM_001006629:exon2:c.C1114G:p.P372A,CHRM2:NM_001006627:exon3:c.C1114G:p.P372A,CHRM2:NM_001006628:exon3:c.C1114G:p.P372A,CHRM2:NM_001006632:exon3:c.C1114G:p.P372A,CHRM2:NM_000739:exon4:c.C1114G:p.P372A,CHRM2:NM_001006630:exon4:c.C1114G:p.P372A,CHRM2:NM_001006631:exon4:c.C1114G:p.P372A,CHRM2:NM_001006626:exon5:c.C1114G:p.P372A;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138806839;CLNALLELEID=229559;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.722;SIFT_converted_rankscore=0.039;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_rankscore=0.170;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.504;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.01;MutationAssessor_score_rankscore=0.549;MutationAssessor_pred=M;FATHMM_score=1.29;FATHMM_converted_rankscore=0.358;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_converted_rankscore=0.144;PROVEAN_pred=N;VEST3_score=0.236;VEST3_rankscore=0.309;MetaSVM_score=-1.022;MetaSVM_rankscore=0.229;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_rankscore=0.341;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.092;M-CAP_pred=T;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.481;CADD_raw_rankscore=0.140;CADD_phred=7.282;DANN_score=0.859;DANN_rankscore=0.156;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.901;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.002;Eigen-PC-raw=0.209;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.416;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.67;GERP++_RS_rankscore=0.876;phyloP100way_vertebrate=5.909;phyloP100way_vertebrate_rankscore=0.695;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.773;SiPhy_29way_logOdds_rankscore=0.964;Interpro_domain=GPCR,_rhodopsin-like,_7TM;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0016;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0042;ExAC_nontcga_NFE=0.0019;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=6.095e-05;AF=0.0010;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0014;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0009;Kaviar_AF=0.0011707;Kaviar_AC=181;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.064361;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644388 rs535114110 C G 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=9720;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs535114110;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0004;AF_male=0.0003;AF_female=7.2e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.455739;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644394 rs3815459 C T 100 PASS AC=50;AF=0.385583;AN=214;NS=2504;DP=9425;EAS_AF=0.6786;AMR_AF=0.3415;AFR_AF=0.3404;EUR_AF=0.2097;SAS_AF=0.3569;AA=C|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.385583;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3815459;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1625;ExAC_nontcga_ALL=0.3819;ExAC_nontcga_AFR=0.3671;ExAC_nontcga_AMR=0.3676;ExAC_nontcga_EAS=0.7439;ExAC_nontcga_FIN=0.4375;ExAC_nontcga_NFE=0.3438;ExAC_nontcga_OTH=0.3333;ExAC_nontcga_SAS=0.3910;AF=0.2888;AF_popmax=0.7074;AF_male=0.2950;AF_female=0.2810;AF_raw=0.2890;AF_afr=0.3178;AF_sas=.;AF_amr=0.3962;AF_eas=0.7074;AF_nfe=0.2218;AF_fin=0.2924;AF_asj=0.3414;AF_oth=0.2980;non_topmed_AF_popmax=0.7046;non_neuro_AF_popmax=0.7074;non_cancer_AF_popmax=.;controls_AF_popmax=0.6909;Kaviar_AF=0.119759;Kaviar_AC=18515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.052835;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150644428 rs36210421 C A 100 PASS AC=3;AF=0.00898562;AN=214;NS=2504;DP=8790;EAS_AF=0.001;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.0378;SAS_AF=0.0031;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon9:c.G2120T:p.R707L,KCNH2:NM_000238:exon13:c.G3140T:p.R1047L;1000g2015aug_all=0.00898562;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs36210421;CLNALLELEID=45092;CLNDN=Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.054;SIFT_converted_rankscore=0.386;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_rankscore=0.220;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_rankscore=0.231;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=0.567;MutationTaster_converted_rankscore=0.312;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-2.23;FATHMM_converted_rankscore=0.871;FATHMM_pred=D;PROVEAN_score=-2.79;PROVEAN_converted_rankscore=0.590;PROVEAN_pred=D;VEST3_score=0.637;VEST3_rankscore=0.754;MetaSVM_score=-0.629;MetaSVM_rankscore=0.636;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_rankscore=0.517;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.600;REVEL_rankscore=0.844;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.379;CADD_raw_rankscore=0.729;CADD_phred=25.9;DANN_score=0.997;DANN_rankscore=0.802;fathmm-MKL_coding_score=0.400;fathmm-MKL_coding_rankscore=0.261;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.445;Eigen-PC-raw=-0.348;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.652;integrated_fitCons_score_rankscore=0.477;integrated_confidence_value=0;GERP++_RS=4.09;GERP++_RS_rankscore=0.469;phyloP100way_vertebrate=-0.147;phyloP100way_vertebrate_rankscore=0.101;phyloP20way_mammalian=0.866;phyloP20way_mammalian_rankscore=0.377;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.882;phastCons20way_mammalian_rankscore=0.370;SiPhy_29way_logOdds=7.663;SiPhy_29way_logOdds_rankscore=0.274;Interpro_domain=Cyclic_nucleotide-binding-like;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0178;ExAC_nontcga_ALL=0.0069;ExAC_nontcga_AFR=0.0036;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0714;ExAC_nontcga_NFE=0.015;ExAC_nontcga_OTH=0.0088;ExAC_nontcga_SAS=0.0039;AF=0.0267;AF_popmax=0.0355;AF_male=0.0253;AF_female=0.0284;AF_raw=0.0268;AF_afr=0.0029;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0355;AF_fin=0.0660;AF_asj=0.0034;AF_oth=0.0287;non_topmed_AF_popmax=0.0408;non_neuro_AF_popmax=0.0357;non_cancer_AF_popmax=.;controls_AF_popmax=0.0551;Kaviar_AF=0.0071927;Kaviar_AC=1112;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.914344;ALLELE_END;VINYL_score=1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644755 rs75005975 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=9011;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1884A:p.P628P,KCNH2:NM_000238:exon12:c.G2904A:p.P968P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75005975;CLNALLELEID=197164;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.137e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.178e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.383e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=6.366e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.358e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.875936;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644866 rs200976506 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7486;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1773A:p.P591P,KCNH2:NM_000238:exon12:c.G2793A:p.P931P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200976506;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.931807;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150644890 rs557789224 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7640;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.G1749C:p.P583P,KCNH2:NM_000238:exon12:c.G2769C:p.P923P;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs557789224;CLNALLELEID=395691;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.891142;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645015 rs574529725 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=12605;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.002;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574529725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0010;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.463811;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645023 rs6948860 G A 100 PASS AC=20;AF=0.174121;AN=214;NS=2504;DP=12679;EAS_AF=0.1647;AMR_AF=0.0922;AFR_AF=0.3525;EUR_AF=0.0964;SAS_AF=0.0808;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.174121;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6948860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1638;AF_popmax=0.3018;AF_male=0.1661;AF_female=0.1609;AF_raw=0.1637;AF_afr=0.3018;AF_sas=.;AF_amr=0.0979;AF_eas=0.1675;AF_nfe=0.1144;AF_fin=0.0752;AF_asj=0.0379;AF_oth=0.1225;non_topmed_AF_popmax=0.3024;non_neuro_AF_popmax=0.2994;non_cancer_AF_popmax=.;controls_AF_popmax=0.3064;Kaviar_AF=0.0226776;Kaviar_AC=3506;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.088842;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150645534 rs1805123 T G 100 PASS AC=63;AF=0.136182;AN=214;NS=2504;DP=7620;EAS_AF=0.0536;AMR_AF=0.17;AFR_AF=0.0068;EUR_AF=0.2535;SAS_AF=0.2515;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T;1000g2015aug_all=0.136182;GWAS=rs1805123|Body-mass-index||3E-13|PMID:30595370;ORegAnno_REGULATORY_P=rs1805123|Body-mass-index||3E-13|PMID:30595370;avsnp150=rs1805123;CLNALLELEID=78323;CLNDN=Atrial_fibrillation|Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0005110,MedGen:C0004238|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.225;SIFT_converted_rankscore=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_rankscore=0.522;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_rankscore=0.395;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.340;LRT_pred=N;MutationTaster_score=0.128;MutationTaster_converted_rankscore=0.391;MutationTaster_pred=P;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-4.79;FATHMM_converted_rankscore=0.987;FATHMM_pred=D;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.377;PROVEAN_pred=N;VEST3_score=0.401;VEST3_rankscore=0.462;MetaSVM_score=-1.076;MetaSVM_rankscore=0.081;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_rankscore=0.006;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.464;REVEL_rankscore=0.763;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.039;CADD_raw_rankscore=0.306;CADD_phred=16.46;DANN_score=0.991;DANN_rankscore=0.518;fathmm-MKL_coding_score=0.744;fathmm-MKL_coding_rankscore=0.361;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.213;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.685;integrated_fitCons_score_rankscore=0.552;integrated_confidence_value=0;GERP++_RS=-0.036;GERP++_RS_rankscore=0.132;phyloP100way_vertebrate=2.770;phyloP100way_vertebrate_rankscore=0.471;phyloP20way_mammalian=0.107;phyloP20way_mammalian_rankscore=0.202;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=7.206;SiPhy_29way_logOdds_rankscore=0.249;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=ENSG00000055118.10;GTEx_V6p_tissue=Brain_Cerebellum;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.024;esp6500siv2_ea=0.2326;ExAC_nontcga_ALL=0.1833;ExAC_nontcga_AFR=0.0427;ExAC_nontcga_AMR=0.1017;ExAC_nontcga_EAS=0.0428;ExAC_nontcga_FIN=0.1789;ExAC_nontcga_NFE=0.2327;ExAC_nontcga_OTH=0.2209;ExAC_nontcga_SAS=0.2139;AF=0.1873;AF_popmax=0.2613;AF_male=0.1859;AF_female=0.1892;AF_raw=0.1519;AF_afr=0.0524;AF_sas=.;AF_amr=0.1942;AF_eas=0.0428;AF_nfe=0.2613;AF_fin=0.2562;AF_asj=0.2366;AF_oth=0.2178;non_topmed_AF_popmax=0.2436;non_neuro_AF_popmax=0.2691;non_cancer_AF_popmax=.;controls_AF_popmax=0.2535;Kaviar_AF=0.181039;Kaviar_AC=27989;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.935937;ALLELE_END;VINYL_score=3.5 GT 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150645682 rs2968860 G A 100 PASS AC=134;AF=0.709465;AN=214;NS=2504;DP=12720;EAS_AF=0.878;AMR_AF=0.611;AFR_AF=0.7625;EUR_AF=0.5606;SAS_AF=0.6871;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.709465;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2968860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5610;ExAC_nontcga_ALL=0.6246;ExAC_nontcga_AFR=0.7369;ExAC_nontcga_AMR=0.6347;ExAC_nontcga_EAS=0.9012;ExAC_nontcga_FIN=0.5461;ExAC_nontcga_NFE=0.5609;ExAC_nontcga_OTH=0.6320;ExAC_nontcga_SAS=0.6648;AF=0.6252;AF_popmax=0.8936;AF_male=0.6337;AF_female=0.6145;AF_raw=0.6249;AF_afr=0.7313;AF_sas=.;AF_amr=0.6407;AF_eas=0.8936;AF_nfe=0.5611;AF_fin=0.5305;AF_asj=0.5938;AF_oth=0.5969;non_topmed_AF_popmax=0.8916;non_neuro_AF_popmax=0.8936;non_cancer_AF_popmax=.;controls_AF_popmax=0.8788;Kaviar_AF=0.002749;Kaviar_AC=425;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.570218;ALLELE_END;VINYL_score=2 GT 0|1 1|0 0|0 1|0 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 0|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 0|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150647569 rs4725983 T C 100 PASS AC=138;AF=0.754992;AN=214;NS=2504;DP=15490;EAS_AF=0.878;AMR_AF=0.634;AFR_AF=0.8865;EUR_AF=0.6024;SAS_AF=0.6933;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4725983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6821;AF_popmax=0.8945;AF_male=0.6906;AF_female=0.6714;AF_raw=0.6814;AF_afr=0.8336;AF_sas=.;AF_amr=0.6698;AF_eas=0.8945;AF_nfe=0.5999;AF_fin=0.5962;AF_asj=0.6;AF_oth=0.6348;non_topmed_AF_popmax=0.8925;non_neuro_AF_popmax=0.8945;non_cancer_AF_popmax=.;controls_AF_popmax=0.8786;Kaviar_AF=0.0199785;Kaviar_AC=520;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.442207;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.754992;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4725983;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6821;AF_popmax=0.8945;AF_male=0.6906;AF_female=0.6714;AF_raw=0.6814;AF_afr=0.8336;AF_sas=.;AF_amr=0.6698;AF_eas=0.8945;AF_nfe=0.5999;AF_fin=0.5962;AF_asj=0.6;AF_oth=0.6348;non_topmed_AF_popmax=0.8925;non_neuro_AF_popmax=0.8945;non_cancer_AF_popmax=.;controls_AF_popmax=0.8786;Kaviar_AF=0.0199785;Kaviar_AC=520;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.442207;ALLELE_END;VINYL_score=2 GT 0|1 1|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150647969 rs2072413 C T 100 PASS AC=67;AF=0.273762;AN=214;NS=2504;DP=17315;EAS_AF=0.1379;AMR_AF=0.2089;AFR_AF=0.3828;EUR_AF=0.2942;SAS_AF=0.2914;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273762;GWAS=rs2072413|QT-interval|1.534928|3E-10|PMID:31217584;ORegAnno_REGULATORY_P=rs2072413|QT-interval|1.534928|3E-10|PMID:31217584;avsnp150=rs2072413;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2281;ExAC_nontcga_ALL=0.2417;ExAC_nontcga_AFR=0.3504;ExAC_nontcga_AMR=0.1260;ExAC_nontcga_EAS=0.1197;ExAC_nontcga_FIN=0.2408;ExAC_nontcga_NFE=0.2644;ExAC_nontcga_OTH=0.2798;ExAC_nontcga_SAS=0.2436;AF=0.2683;AF_popmax=0.3425;AF_male=0.2699;AF_female=0.2664;AF_raw=0.2694;AF_afr=0.3425;AF_sas=.;AF_amr=0.1856;AF_eas=0.1168;AF_nfe=0.2588;AF_fin=0.2286;AF_asj=0.2172;AF_oth=0.2320;non_topmed_AF_popmax=0.3425;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3402;Kaviar_AF=0.233302;Kaviar_AC=36069;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.922226;ALLELE_END;VINYL_score=2 GT 0|1 0|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150647970 rs2072412 C G 100 PASS AC=67;AF=0.273762;AN=214;NS=2504;DP=17331;EAS_AF=0.1379;AMR_AF=0.2089;AFR_AF=0.3828;EUR_AF=0.2942;SAS_AF=0.2914;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.273762;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072412;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2324;ExAC_nontcga_ALL=0.2423;ExAC_nontcga_AFR=0.3510;ExAC_nontcga_AMR=0.1265;ExAC_nontcga_EAS=0.1208;ExAC_nontcga_FIN=0.2417;ExAC_nontcga_NFE=0.2650;ExAC_nontcga_OTH=0.2798;ExAC_nontcga_SAS=0.2441;AF=0.2686;AF_popmax=0.3427;AF_male=0.2703;AF_female=0.2665;AF_raw=0.2696;AF_afr=0.3427;AF_sas=.;AF_amr=0.1856;AF_eas=0.1174;AF_nfe=0.2591;AF_fin=0.2286;AF_asj=0.2172;AF_oth=0.2330;non_topmed_AF_popmax=0.3426;non_neuro_AF_popmax=0.3375;non_cancer_AF_popmax=.;controls_AF_popmax=0.3405;Kaviar_AF=0.233516;Kaviar_AC=36102;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.922226;ALLELE_END;VINYL_score=2 GT 0|1 0|0 1|0 0|0 1|0 1|1 0|0 1|0 1|0 0|1 0|0 0|0 0|1 1|0 0|0 1|1 0|0 0|1 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|1 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 1|0 0|0 1|1 0|0 1|1 0|1 0|1 0|1 1|0 1|1 1|1 0|0 0|0 1|0 0|0 0|0 0|1 0|1 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 1|1 1|1 1|0 1|1 0|0 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|1 +7 150648198 rs1137617 A G 100 PASS AC=138;AF=0.772165;AN=214;NS=2504;DP=15386;EAS_AF=0.8819;AMR_AF=0.6383;AFR_AF=0.9448;EUR_AF=0.6044;SAS_AF=0.6933;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y;1000g2015aug_all=0.772165;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1137617;CLNALLELEID=197235;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5898;ExAC_nontcga_ALL=0.6687;ExAC_nontcga_AFR=0.9002;ExAC_nontcga_AMR=0.6576;ExAC_nontcga_EAS=0.9055;ExAC_nontcga_FIN=0.6407;ExAC_nontcga_NFE=0.5985;ExAC_nontcga_OTH=0.6884;ExAC_nontcga_SAS=0.6772;AF=0.7023;AF_popmax=0.9008;AF_male=0.7096;AF_female=0.6931;AF_raw=0.7019;AF_afr=0.8907;AF_sas=.;AF_amr=0.6792;AF_eas=0.9008;AF_nfe=0.6011;AF_fin=0.6223;AF_asj=0.6076;AF_oth=0.6427;non_topmed_AF_popmax=0.8989;non_neuro_AF_popmax=0.9008;non_cancer_AF_popmax=.;controls_AF_popmax=0.8944;Kaviar_AF=0.652417;Kaviar_AC=100865;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.928297;ALLELE_END;VINYL_score=2 GT 0|1 1|0 1|0 1|0 1|0 1|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 0|0 1|1 0|1 0|1 1|0 1|0 1|1 1|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|1 1|1 0|1 1|1 1|0 1|1 1|1 1|0 1|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 0|1 1|0 1|0 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 1|1 1|0 0|1 1|1 1|0 1|0 1|1 1|1 0|0 1|1 1|1 1|1 1|1 0|1 1|1 1|1 0|1 1|1 1|0 1|1 1|1 0|1 1|0 0|0 1|0 0|1 1|1 0|0 0|1 +7 150648229 rs200905835 G A 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=14936;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0061;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200905835;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0005;ExAC_nontcga_AFR=0.0045;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.934e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0039;AF_male=0.0014;AF_female=0.0008;AF_raw=0.0011;AF_afr=0.0039;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.495e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0039;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.854819;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150648789 rs1805121 T C 100 PASS AC=76;AF=0.608427;AN=214;NS=2504;DP=17035;EAS_AF=0.8343;AMR_AF=0.4625;AFR_AF=0.82;EUR_AF=0.3608;SAS_AF=0.4479;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L;1000g2015aug_all=0.608427;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805121;CLNALLELEID=197263;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3601;ExAC_nontcga_ALL=0.4842;ExAC_nontcga_AFR=0.7600;ExAC_nontcga_AMR=0.5505;ExAC_nontcga_EAS=0.8699;ExAC_nontcga_FIN=0.4766;ExAC_nontcga_NFE=0.3749;ExAC_nontcga_OTH=0.4640;ExAC_nontcga_SAS=0.4675;AF=0.5231;AF_popmax=0.8594;AF_male=0.5290;AF_female=0.5158;AF_raw=0.5231;AF_afr=0.7447;AF_sas=.;AF_amr=0.5307;AF_eas=0.8594;AF_nfe=0.3831;AF_fin=0.4636;AF_asj=0.3862;AF_oth=0.4706;non_topmed_AF_popmax=0.8572;non_neuro_AF_popmax=0.8594;non_cancer_AF_popmax=.;controls_AF_popmax=0.8446;Kaviar_AF=0.464567;Kaviar_AC=71823;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001133220|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937504;ALLELE_END;VINYL_score=3 GT 0|0 1|0 1|0 1|0 0|0 0|0 0|1 1|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|1 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 1|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 1|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150648986 rs2072411 G C 100 PASS AC=78;AF=0.431709;AN=214;NS=2504;DP=16153;EAS_AF=0.6766;AMR_AF=0.4438;AFR_AF=0.2882;EUR_AF=0.339;SAS_AF=0.4601;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.431709;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2072411;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3422;AF_popmax=0.6877;AF_male=0.3471;AF_female=0.3361;AF_raw=0.3420;AF_afr=0.2717;AF_sas=.;AF_amr=0.4682;AF_eas=0.6877;AF_nfe=0.3306;AF_fin=0.3681;AF_asj=0.4375;AF_oth=0.3702;non_topmed_AF_popmax=0.6832;non_neuro_AF_popmax=0.6877;non_cancer_AF_popmax=.;controls_AF_popmax=0.6846;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001133220|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.811896;ALLELE_END;VINYL_score=3 GT 0|1 1|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 1|1 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|1 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|1 1|1 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|1 0|1 1|1 1|1 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 0|0 1|0 1|0 0|1 0|1 1|0 1|0 1|0 0|0 0|0 0|1 0|1 1|1 1|1 0|0 1|0 0|1 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 0|0 0|1 1|1 0|0 0|0 +7 150649531 rs1805120 G A 100 PASS AC=50;AF=0.341653;AN=214;NS=2504;DP=18979;EAS_AF=0.622;AMR_AF=0.3357;AFR_AF=0.2511;EUR_AF=0.2127;SAS_AF=0.3119;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C519T:p.F173F,KCNH2:NM_172057:exon2:c.C519T:p.F173F,KCNH2:NM_000238:exon6:c.C1539T:p.F513F,KCNH2:NM_172056:exon6:c.C1539T:p.F513F;1000g2015aug_all=0.341653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1805120;CLNALLELEID=45091;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2133;ExAC_nontcga_ALL=0.2989;ExAC_nontcga_AFR=0.2489;ExAC_nontcga_AMR=0.4333;ExAC_nontcga_EAS=0.6635;ExAC_nontcga_FIN=0.3166;ExAC_nontcga_NFE=0.2205;ExAC_nontcga_OTH=0.3017;ExAC_nontcga_SAS=0.3136;AF=0.2658;AF_popmax=0.6542;AF_male=0.2701;AF_female=0.2603;AF_raw=0.2658;AF_afr=0.2462;AF_sas=.;AF_amr=0.3735;AF_eas=0.6542;AF_nfe=0.2216;AF_fin=0.2980;AF_asj=0.3241;AF_oth=0.2910;non_topmed_AF_popmax=0.6495;non_neuro_AF_popmax=0.6542;non_cancer_AF_popmax=.;controls_AF_popmax=0.6499;Kaviar_AF=0.281769;Kaviar_AC=43562;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.935941;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150649542 rs75648145 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18889;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C508T:p.L170L,KCNH2:NM_172057:exon2:c.C508T:p.L170L,KCNH2:NM_000238:exon6:c.C1528T:p.L510L,KCNH2:NM_172056:exon6:c.C1528T:p.L510L;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75648145;CLNALLELEID=239999;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0017;ExAC_nontcga_ALL=0.0017;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0005;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0048;AF=0.0009;AF_popmax=0.0014;AF_male=0.0007;AF_female=0.0011;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0012;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0013842;Kaviar_AC=214;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.937377;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150649603 rs740952 G A 100 PASS AC=51;AF=0.342652;AN=214;NS=2504;DP=19711;EAS_AF=0.6131;AMR_AF=0.3372;AFR_AF=0.2632;EUR_AF=0.2127;SAS_AF=0.3088;AA=G|||;VT=SNP;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C447T:p.I149I,KCNH2:NM_172057:exon2:c.C447T:p.I149I,KCNH2:NM_000238:exon6:c.C1467T:p.I489I,KCNH2:NM_172056:exon6:c.C1467T:p.I489I;1000g2015aug_all=0.342652;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs740952;CLNALLELEID=252648;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2135;ExAC_nontcga_ALL=0.2980;ExAC_nontcga_AFR=0.2607;ExAC_nontcga_AMR=0.4351;ExAC_nontcga_EAS=0.6601;ExAC_nontcga_FIN=0.3017;ExAC_nontcga_NFE=0.2197;ExAC_nontcga_OTH=0.2968;ExAC_nontcga_SAS=0.3101;AF=0.2682;AF_popmax=0.6466;AF_male=0.2731;AF_female=0.2620;AF_raw=0.2683;AF_afr=0.2567;AF_sas=.;AF_amr=0.3765;AF_eas=0.6466;AF_nfe=0.2227;AF_fin=0.2907;AF_asj=0.3276;AF_oth=0.2934;non_topmed_AF_popmax=0.6430;non_neuro_AF_popmax=0.6466;non_cancer_AF_popmax=.;controls_AF_popmax=0.6404;Kaviar_AF=0.281238;Kaviar_AC=43480;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518326|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.936884;ALLELE_END;VINYL_score=2 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 1|0 0|1 0|1 0|0 1|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|1 1|0 0|0 1|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150649984 rs200553620 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17419;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200553620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=4.923e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.612e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.575e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.197e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.858473;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150652419 rs876088 T C 100 PASS AC=20;AF=0.133786;AN=214;NS=2504;DP=15262;EAS_AF=0.1458;AMR_AF=0.0764;AFR_AF=0.2224;EUR_AF=0.0964;SAS_AF=0.0808;AA=t|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.133786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs876088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1326;AF_popmax=0.1989;AF_male=0.1349;AF_female=0.1298;AF_raw=0.1328;AF_afr=0.1989;AF_sas=.;AF_amr=0.0922;AF_eas=0.1390;AF_nfe=0.1128;AF_fin=0.0751;AF_asj=0.0379;AF_oth=0.1133;non_topmed_AF_popmax=0.1995;non_neuro_AF_popmax=0.1942;non_cancer_AF_popmax=.;controls_AF_popmax=0.2008;Kaviar_AF=0.0205172;Kaviar_AC=3172;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843775|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.455927;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150652420 rs574665044 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=15183;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574665044;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0002;AF_popmax=0.0005;AF_male=0.0001;AF_female=0.0004;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0006;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843775|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.455927;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150654622 rs539893769 A AG 100 PASS AC=214;AF=1;AN=214;NS=2504;DP=17664;EAS_AF=1;AMR_AF=1;AFR_AF=1;EUR_AF=1;SAS_AF=1;AA=GG|G|GG|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=1;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11462566;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9988;ExAC_nontcga_ALL=1.0000;ExAC_nontcga_AFR=1;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=1;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=1;AF_popmax=1;AF_male=1;AF_female=1;AF_raw=1;AF_afr=1;AF_sas=.;AF_amr=1;AF_eas=1;AF_nfe=1;AF_fin=1;AF_asj=1;AF_oth=1;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.133938;ALLELE_END;VINYL_score=2 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +7 150655624 rs758891 T C 100 PASS AC=70;AF=0.501797;AN=214;NS=2504;DP=11270;EAS_AF=0.7649;AMR_AF=0.4222;AFR_AF=0.5703;EUR_AF=0.3091;SAS_AF=0.3926;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.501797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758891;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2406;ExAC_nontcga_ALL=0.4143;ExAC_nontcga_AFR=0.5207;ExAC_nontcga_AMR=0.5283;ExAC_nontcga_EAS=0.8768;ExAC_nontcga_FIN=0.6667;ExAC_nontcga_NFE=0.3456;ExAC_nontcga_OTH=0.3727;ExAC_nontcga_SAS=0.4250;AF=0.4200;AF_popmax=0.7870;AF_male=0.4262;AF_female=0.4122;AF_raw=0.4205;AF_afr=0.5240;AF_sas=.;AF_amr=0.4714;AF_eas=0.7870;AF_nfe=0.3342;AF_fin=0.3738;AF_asj=0.3403;AF_oth=0.4117;non_topmed_AF_popmax=0.7856;non_neuro_AF_popmax=0.7870;non_cancer_AF_popmax=.;controls_AF_popmax=0.7792;Kaviar_AF=0.146311;Kaviar_AC=22620;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.37037::-0.379158;ENSEMBLReg=.;ENSTFBS=Name\x3dTEAD4::MAX|ENSPFM0565|ENSM00196668572|11.0508198118;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.995433;ALLELE_END;VINYL_score=4 GT 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150655643 rs758890 G A 100 PASS AC=70;AF=0.4998;AN=214;NS=2504;DP=12199;EAS_AF=0.7649;AMR_AF=0.4222;AFR_AF=0.5628;EUR_AF=0.3091;SAS_AF=0.3926;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.4998;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758890;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4172;AF_popmax=0.7851;AF_male=0.4233;AF_female=0.4097;AF_raw=0.4176;AF_afr=0.5154;AF_sas=.;AF_amr=0.4702;AF_eas=0.7851;AF_nfe=0.3343;AF_fin=0.3735;AF_asj=0.3299;AF_oth=0.4080;non_topmed_AF_popmax=0.7836;non_neuro_AF_popmax=0.7851;non_cancer_AF_popmax=.;controls_AF_popmax=0.7786;Kaviar_AF=0.0660535;Kaviar_AC=10212;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.378455;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.114841;ALLELE_END;VINYL_score=3 GT 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|1 0|1 0|0 0|1 1|1 1|0 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|1 0|0 1|0 0|0 0|1 0|1 1|1 0|1 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|1 1|0 1|0 1|0 1|0 1|1 0|0 1|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|1 0|1 1|0 1|1 1|0 0|0 1|0 0|0 1|1 0|0 1|0 0|0 0|0 1|0 1|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|1 1|0 0|0 1|0 1|0 1|1 0|0 0|0 0|0 0|1 0|0 0|1 1|0 1|0 0|1 1|1 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 150656690 rs139544114 G A 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=17275;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0.001;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon3:c.C442T:p.R148W,KCNH2:NM_172056:exon3:c.C442T:p.R148W;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139544114;CLNALLELEID=78401;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=0.839;MutationTaster_converted_rankscore=0.398;MutationTaster_pred=D;MutationAssessor_score=1.735;MutationAssessor_score_rankscore=0.450;MutationAssessor_pred=L;FATHMM_score=-5.1;FATHMM_converted_rankscore=0.987;FATHMM_pred=D;PROVEAN_score=-2.56;PROVEAN_converted_rankscore=0.553;PROVEAN_pred=D;VEST3_score=0.79;VEST3_rankscore=0.780;MetaSVM_score=1.099;MetaSVM_rankscore=0.996;MetaSVM_pred=D;MetaLR_score=0.930;MetaLR_rankscore=0.977;MetaLR_pred=D;M-CAP_score=0.748;M-CAP_rankscore=0.980;M-CAP_pred=D;REVEL_score=0.744;REVEL_rankscore=0.913;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.974;CADD_raw_rankscore=0.669;CADD_phred=25.1;DANN_score=0.999;DANN_rankscore=0.937;fathmm-MKL_coding_score=0.827;fathmm-MKL_coding_rankscore=0.416;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.136;Eigen-PC-raw=-0.031;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=3.8;GERP++_RS_rankscore=0.427;phyloP100way_vertebrate=2.882;phyloP100way_vertebrate_rankscore=0.480;phyloP20way_mammalian=0.072;phyloP20way_mammalian_rankscore=0.180;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.982;phastCons20way_mammalian_rankscore=0.498;SiPhy_29way_logOdds=11.589;SiPhy_29way_logOdds_rankscore=0.500;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0010;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0015;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0005;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0009702;Kaviar_AC=150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.909359;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671769 rs139968479 G A 100 PASS AC=1;AF=0.0215655;AN=214;NS=2504;DP=6190;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0711;EUR_AF=0.003;SAS_AF=0.0082;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0215655;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139968479;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0025;ExAC_nontcga_ALL=0.0168;ExAC_nontcga_AFR=0.1385;ExAC_nontcga_AMR=0.0110;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0094;ExAC_nontcga_OTH=0.0137;ExAC_nontcga_SAS=0.0127;AF=0.0192;AF_popmax=0.0624;AF_male=0.0206;AF_female=0.0174;AF_raw=0.0188;AF_afr=0.0624;AF_sas=.;AF_amr=0.0065;AF_eas=0;AF_nfe=0.0028;AF_fin=0.0012;AF_asj=0;AF_oth=0.0038;non_topmed_AF_popmax=0.0627;non_neuro_AF_popmax=0.0610;non_cancer_AF_popmax=.;controls_AF_popmax=0.0634;Kaviar_AF=0.0047865;Kaviar_AC=740;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843782|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195931|N/A|TFAP2C|PAZAR,OREG1518323|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.825010;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671772 rs200121781 C G 100 PASS AC=1;AF=0.00219649;AN=214;NS=2504;DP=6300;EAS_AF=0;AMR_AF=0.0072;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00219649;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200121781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0016;ExAC_nontcga_AFR=0.0014;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0066;ExAC_nontcga_NFE=0.0047;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0022;AF_popmax=0.0034;AF_male=0.0019;AF_female=0.0025;AF_raw=0.0022;AF_afr=0.0005;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0034;AF_fin=0.0020;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0033;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0008667;Kaviar_AC=134;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843782|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.580146;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150671793 rs201872229 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=7385;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201872229;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.064;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=3.315e-05;AF_popmax=0.0007;AF_male=0;AF_female=7.534e-05;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0007;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0007;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000843782|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.886612;ALLELE_END;VINYL_score=7 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 150675078 rs545717695 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=2503;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=KCNH2;GeneDetail.refGene=NM_000238:c.-77G>C\x3bNM_172056:c.-77G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs545717695;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219763|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.855006;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151254175 rs8961 T C 100 PASS AC=139;AF=0.554313;AN=214;NS=2504;DP=20876;EAS_AF=0.7292;AMR_AF=0.5749;AFR_AF=0.2496;EUR_AF=0.6799;SAS_AF=0.6421;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.*112A>G\x3bNM_001304531:c.*112A>G\x3bNM_024429:c.*112A>G\x3bNM_001304527:c.*112A>G\x3bNM_001040633:c.*112A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.554313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8961;CLNALLELEID=302216;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5554;AF_popmax=0.7195;AF_male=0.5566;AF_female=0.5539;AF_raw=0.5554;AF_afr=0.3069;AF_sas=.;AF_amr=0.5320;AF_eas=0.7195;AF_nfe=0.6412;AF_fin=0.6887;AF_asj=0.6931;AF_oth=0.6492;non_topmed_AF_popmax=0.7211;non_neuro_AF_popmax=0.7195;non_cancer_AF_popmax=.;controls_AF_popmax=0.7232;Kaviar_AF=0.120975;Kaviar_AC=18703;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.634026;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 1|0 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|1 0|0 +7 151254231 rs141781827 C T 100 PASS AC=3;AF=0.00519169;AN=214;NS=2504;DP=21118;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0.0015;EUR_AF=0.004;SAS_AF=0.0174;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.*56G>A\x3bNM_001304531:c.*56G>A\x3bNM_024429:c.*56G>A\x3bNM_001304527:c.*56G>A\x3bNM_001040633:c.*56G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00519169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141781827;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0082;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0049;AF_popmax=0.0069;AF_male=0.0055;AF_female=0.0042;AF_raw=0.0050;AF_afr=0.0022;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0069;AF_fin=0.0009;AF_asj=0.0552;AF_oth=0.0055;non_topmed_AF_popmax=0.0066;non_neuro_AF_popmax=0.0090;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0014036;Kaviar_AC=217;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.779129;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151254443 rs142653616 G A 100 PASS AC=8;AF=0.0131789;AN=214;NS=2504;DP=15114;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0.0015;EUR_AF=0.0487;SAS_AF=0.0041;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0131789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142653616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0345;AF_popmax=0.0439;AF_male=0.0324;AF_female=0.0370;AF_raw=0.0344;AF_afr=0.0076;AF_sas=.;AF_amr=0.0248;AF_eas=0.0006;AF_nfe=0.0439;AF_fin=0.0760;AF_asj=0.0103;AF_oth=0.0460;non_topmed_AF_popmax=0.0455;non_neuro_AF_popmax=0.0451;non_cancer_AF_popmax=.;controls_AF_popmax=0.0542;Kaviar_AF=0.0040038;Kaviar_AC=619;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.862168;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +7 151254445 rs764801 T C 100 PASS AC=139;AF=0.540136;AN=214;NS=2504;DP=15325;EAS_AF=0.7292;AMR_AF=0.5692;AFR_AF=0.1989;EUR_AF=0.6799;SAS_AF=0.6421;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.540136;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs764801;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.5442;AF_popmax=0.7208;AF_male=0.5440;AF_female=0.5444;AF_raw=0.5439;AF_afr=0.2658;AF_sas=.;AF_amr=0.5319;AF_eas=0.7208;AF_nfe=0.6415;AF_fin=0.6885;AF_asj=0.6931;AF_oth=0.6476;non_topmed_AF_popmax=0.7224;non_neuro_AF_popmax=0.7208;non_cancer_AF_popmax=.;controls_AF_popmax=0.7254;Kaviar_AF=0.0066851;Kaviar_AC=174;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.862168;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|1 0|0 1|1 1|0 1|0 1|1 1|1 1|1 1|1 0|1 1|1 1|0 0|1 0|0 0|0 1|0 1|1 1|0 1|0 1|1 1|1 0|0 1|0 1|0 1|0 1|1 1|1 0|0 1|0 1|1 0|1 1|1 1|1 0|0 0|1 1|1 1|1 0|0 1|0 1|1 0|1 0|1 1|0 1|0 0|0 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|0 1|1 1|0 1|1 0|1 0|1 0|1 0|0 1|1 1|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 0|0 1|0 1|0 1|1 1|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|1 0|1 1|0 1|1 0|1 1|1 1|1 1|0 1|0 0|1 0|1 1|0 1|1 0|0 1|1 0|1 0|1 1|1 0|0 +7 151262385 rs73156279 T C 100 PASS AC=8;AF=0.0171725;AN=214;NS=2504;DP=15793;EAS_AF=0.003;AMR_AF=0.013;AFR_AF=0.0129;EUR_AF=0.0338;SAS_AF=0.0235;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0171725;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73156279;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0316;ExAC_nontcga_ALL=0.0317;ExAC_nontcga_AFR=0.0223;ExAC_nontcga_AMR=0.0156;ExAC_nontcga_EAS=0.0023;ExAC_nontcga_FIN=0.0364;ExAC_nontcga_NFE=0.0427;ExAC_nontcga_OTH=0.0278;ExAC_nontcga_SAS=0.0313;AF=0.0261;AF_popmax=0.0331;AF_male=0.0276;AF_female=0.0243;AF_raw=0.0261;AF_afr=0.0188;AF_sas=.;AF_amr=0.0130;AF_eas=0.0013;AF_nfe=0.0331;AF_fin=0.0301;AF_asj=0.0243;AF_oth=0.0193;non_topmed_AF_popmax=0.0313;non_neuro_AF_popmax=0.0326;non_cancer_AF_popmax=.;controls_AF_popmax=0.0281;Kaviar_AF=0.0240165;Kaviar_AC=3713;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.515273;ALLELE_END;VINYL_score=-1 GT 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151262528 rs530752815 A C 100 PASS AC=1;AF=0.00239617;AN=214;NS=2504;DP=16190;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.0112;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00239617;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs530752815;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0007;AF_popmax=0.0024;AF_male=0.0008;AF_female=0.0006;AF_raw=0.0007;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0008;AF_fin=0;AF_asj=0.0172;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.001191;Kaviar_AC=31;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.112605;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267237 rs570857964;rs533060575;rs374874465 GA GAA 100 PASS AC=2;AF=0.0181709;AN=214;NS=2504;DP=18387;EAS_AF=0.0159;AMR_AF=0.0043;AFR_AF=0.0333;EUR_AF=0.0089;SAS_AF=0.0194;VT=SNP,INDEL;MULTI_ALLELIC;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.488128;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267292 rs397517260 T A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17694;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_024429:exon6:c.A348T:p.T116T,PRKAG2:NM_001304531:exon7:c.A348T:p.T116T,PRKAG2:NM_001304527:exon8:c.A696T:p.T232T,PRKAG2:NM_001040633:exon10:c.A939T:p.T313T,PRKAG2:NM_016203:exon10:c.A1071T:p.T357T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517260;CLNALLELEID=54850;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.896e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.699e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.871140;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151267353 rs2302531 G A 100 PASS AC=23;AF=0.144169;AN=214;NS=2504;DP=17433;EAS_AF=0.2569;AMR_AF=0.1671;AFR_AF=0.0197;EUR_AF=0.1064;SAS_AF=0.2188;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.144169;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302531;CLNALLELEID=252649;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1105;ExAC_nontcga_ALL=0.1459;ExAC_nontcga_AFR=0.0295;ExAC_nontcga_AMR=0.2391;ExAC_nontcga_EAS=0.2623;ExAC_nontcga_FIN=0.1060;ExAC_nontcga_NFE=0.1170;ExAC_nontcga_OTH=0.1662;ExAC_nontcga_SAS=0.2000;AF=0.1045;AF_popmax=0.2593;AF_male=0.1026;AF_female=0.1069;AF_raw=0.1044;AF_afr=0.0309;AF_sas=.;AF_amr=0.2205;AF_eas=0.2593;AF_nfe=0.1206;AF_fin=0.1043;AF_asj=0.1931;AF_oth=0.1324;non_topmed_AF_popmax=0.2579;non_neuro_AF_popmax=0.2593;non_cancer_AF_popmax=.;controls_AF_popmax=0.2599;Kaviar_AF=0.136803;Kaviar_AC=21150;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.186830;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151267397 rs2302530 G A 100 PASS AC=40;AF=0.242412;AN=214;NS=2504;DP=16488;EAS_AF=0.4593;AMR_AF=0.2565;AFR_AF=0.0106;EUR_AF=0.2435;SAS_AF=0.3211;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.242412;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2302530;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.2047;AF_popmax=0.4530;AF_male=0.2023;AF_female=0.2078;AF_raw=0.2050;AF_afr=0.0460;AF_sas=.;AF_amr=0.2193;AF_eas=0.4530;AF_nfe=0.2441;AF_fin=0.3062;AF_asj=0.1310;AF_oth=0.2509;non_topmed_AF_popmax=0.4545;non_neuro_AF_popmax=0.4530;non_cancer_AF_popmax=.;controls_AF_popmax=0.4529;Kaviar_AF=0.0458597;Kaviar_AC=7090;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.575774;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 1|1 1|0 0|0 1|1 1|0 1|0 0|0 0|0 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|1 0|0 +7 151269890 rs17134620 T A 100 PASS AC=23;AF=0.147764;AN=214;NS=2504;DP=14966;EAS_AF=0.2569;AMR_AF=0.1686;AFR_AF=0.0318;EUR_AF=0.1064;SAS_AF=0.2198;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17134620;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1075;AF_popmax=0.2587;AF_male=0.1051;AF_female=0.1104;AF_raw=0.1075;AF_afr=0.0424;AF_sas=.;AF_amr=0.2205;AF_eas=0.2587;AF_nfe=0.1203;AF_fin=0.1042;AF_asj=0.1897;AF_oth=0.1324;non_topmed_AF_popmax=0.2573;non_neuro_AF_popmax=0.2587;non_cancer_AF_popmax=.;controls_AF_popmax=0.2582;Kaviar_AF=0.0247668;Kaviar_AC=3829;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.272002;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151269916 rs73156285 C T 100 PASS AC=23;AF=0.147764;AN=214;NS=2504;DP=14771;EAS_AF=0.2569;AMR_AF=0.1686;AFR_AF=0.0318;EUR_AF=0.1064;SAS_AF=0.2198;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.147764;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73156285;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1071;AF_popmax=0.2594;AF_male=0.1048;AF_female=0.1101;AF_raw=0.1071;AF_afr=0.0406;AF_sas=.;AF_amr=0.2210;AF_eas=0.2594;AF_nfe=0.1206;AF_fin=0.1039;AF_asj=0.1897;AF_oth=0.1324;non_topmed_AF_popmax=0.2579;non_neuro_AF_popmax=0.2594;non_cancer_AF_popmax=.;controls_AF_popmax=0.2593;Kaviar_AF=0.13182;Kaviar_AC=3431;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.077991;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|0 0|0 0|0 0|1 1|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151292395 rs35348247 A AT 100 PASS AC=156;AF=0.804712;AN=214;NS=2504;DP=20232;EAS_AF=0.9851;AMR_AF=0.7622;AFR_AF=0.6884;EUR_AF=0.7555;SAS_AF=0.8569;AA=T|-|T|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.804712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35348247;CLNALLELEID=252652;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.7284;ExAC_nontcga_ALL=0.7690;ExAC_nontcga_AFR=0.6764;ExAC_nontcga_AMR=0.7435;ExAC_nontcga_EAS=0.9800;ExAC_nontcga_FIN=0.7839;ExAC_nontcga_NFE=0.7366;ExAC_nontcga_OTH=0.7798;ExAC_nontcga_SAS=0.8348;AF=0.7286;AF_popmax=0.9840;AF_male=0.7294;AF_female=0.7277;AF_raw=0.7282;AF_afr=0.6608;AF_sas=.;AF_amr=0.7411;AF_eas=0.9840;AF_nfe=0.7260;AF_fin=0.7730;AF_asj=0.7972;AF_oth=0.7716;non_topmed_AF_popmax=0.9849;non_neuro_AF_popmax=0.9840;non_cancer_AF_popmax=.;controls_AF_popmax=0.9847;Kaviar_AF=0.0997335;Kaviar_AC=15419;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 1|1 0|0 1|1 0|0 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 0|0 1|1 0|0 1|0 1|1 1|0 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|0 1|0 1|1 1|1 1|1 1|0 0|0 0|0 1|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|0 1|1 0|0 1|0 1|1 0|1 1|0 1|1 0|1 1|0 1|0 1|1 1|0 1|1 0|1 1|1 1|1 1|1 1|1 0|1 0|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 1|1 1|0 1|0 1|1 1|0 1|0 1|1 1|0 1|1 1|0 1|1 1|1 1|0 1|0 1|1 1|1 1|0 1|1 0|0 1|1 1|1 1|1 1|1 0|0 +7 151292609 rs138600726 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20237;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138600726;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151292614 rs574858008 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20248;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs574858008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=9.555e-05;AF_popmax=0.0002;AF_male=0;AF_female=0.0002;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151329345 rs3750136 G A 100 PASS AC=2;AF=0.0547125;AN=214;NS=2504;DP=3137;EAS_AF=0.1647;AMR_AF=0.0418;AFR_AF=0.0454;EUR_AF=0.007;SAS_AF=0.0123;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0547125;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3750136;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0279;AF_popmax=0.1815;AF_male=0.0292;AF_female=0.0263;AF_raw=0.0253;AF_afr=0.0356;AF_sas=.;AF_amr=0.0767;AF_eas=0.1815;AF_nfe=0.0044;AF_fin=0.0397;AF_asj=0;AF_oth=0.0252;non_topmed_AF_popmax=0.1821;non_neuro_AF_popmax=0.1815;non_cancer_AF_popmax=.;controls_AF_popmax=0.1858;Kaviar_AF=0.0203627;Kaviar_AC=530;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219874|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.612887;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151372472 rs372484263 C T 100 PASS AC=1;AF=0.000399361;AN=214;NS=2504;DP=17298;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372484263;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0008;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0022;ExAC_nontcga_SAS=0.0030;AF=0.0009;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0008;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0016;AF_fin=0;AF_asj=0.0034;AF_oth=0.0018;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0024;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.049855;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151372744 rs116226629 A G 100 PASS AC=1;AF=0.061901;AN=214;NS=2504;DP=17574;EAS_AF=0;AMR_AF=0.0173;AFR_AF=0.2133;EUR_AF=0.0149;SAS_AF=0.001;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116226629;CLNALLELEID=549615;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0120;ExAC_nontcga_ALL=0.0270;ExAC_nontcga_AFR=0.1903;ExAC_nontcga_AMR=0.0094;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0259;ExAC_nontcga_NFE=0.0152;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0020;AF=0.0667;AF_popmax=0.2010;AF_male=0.0684;AF_female=0.0645;AF_raw=0.0666;AF_afr=0.2010;AF_sas=.;AF_amr=0.0165;AF_eas=0.0006;AF_nfe=0.0138;AF_fin=0.0282;AF_asj=0;AF_oth=0.0286;non_topmed_AF_popmax=0.2012;non_neuro_AF_popmax=0.2034;non_cancer_AF_popmax=.;controls_AF_popmax=0.1952;Kaviar_AF=0.025653;Kaviar_AC=3966;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.103704;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151478187 rs139668510 A G 100 PASS AC=10;AF=0.0157748;AN=214;NS=2504;DP=16807;EAS_AF=0;AMR_AF=0.0274;AFR_AF=0.0008;EUR_AF=0.0408;SAS_AF=0.0184;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0157748;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139668510;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0491;ExAC_nontcga_ALL=0.0327;ExAC_nontcga_AFR=0.0061;ExAC_nontcga_AMR=0.0161;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0317;ExAC_nontcga_NFE=0.0487;ExAC_nontcga_OTH=0.0461;ExAC_nontcga_SAS=0.0206;AF=0.0346;AF_popmax=0.0502;AF_male=0.0344;AF_female=0.0349;AF_raw=0.0346;AF_afr=0.0099;AF_sas=.;AF_amr=0.0307;AF_eas=0;AF_nfe=0.0502;AF_fin=0.0449;AF_asj=0.0276;AF_oth=0.0340;non_topmed_AF_popmax=0.0508;non_neuro_AF_popmax=0.0503;non_cancer_AF_popmax=.;controls_AF_popmax=0.0501;Kaviar_AF=0.0338288;Kaviar_AC=5230;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.281282;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 +7 151478227 rs199517865 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=16662;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199517865;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.837e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.537e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.718785;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 +7 151483608 rs181839504 A T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=19615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon2:c.T2A:p.M1K,PRKAG2:NM_016203:exon2:c.T134A:p.M45K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181839504;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.693;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-1.99;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.899;VEST3_rankscore=0.888;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_rankscore=0.890;MetaLR_pred=D;M-CAP_score=0.122;M-CAP_rankscore=0.804;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.373;CADD_raw_rankscore=0.464;CADD_phred=22.9;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.281;Eigen-PC-raw=0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=5.182;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.768;SiPhy_29way_logOdds_rankscore=0.566;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.351e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.448e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.857256;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001040633:exon2:c.T2A:p.M1K,PRKAG2:NM_016203:exon2:c.T134A:p.M45K;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs181839504;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_rankscore=0.588;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.693;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-1.99;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.899;VEST3_rankscore=0.888;MetaSVM_score=0.441;MetaSVM_rankscore=0.897;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_rankscore=0.890;MetaLR_pred=D;M-CAP_score=0.122;M-CAP_rankscore=0.804;M-CAP_pred=D;REVEL_score=0.576;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.373;CADD_raw_rankscore=0.464;CADD_phred=22.9;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.886;fathmm-MKL_coding_rankscore=0.483;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.281;Eigen-PC-raw=0.383;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=5.34;GERP++_RS_rankscore=0.759;phyloP100way_vertebrate=5.182;phyloP100way_vertebrate_rankscore=0.647;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.768;SiPhy_29way_logOdds_rankscore=0.566;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.351e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=4.448e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.857256;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151573549 rs75750979 G A 100 PASS AC=7;AF=0.0587061;AN=214;NS=2504;DP=10317;EAS_AF=0.1796;AMR_AF=0.0922;AFR_AF=0.0008;EUR_AF=0.0398;SAS_AF=0.0082;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0587061;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75750979;CLNALLELEID=252654;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0434;ExAC_nontcga_ALL=0.0576;ExAC_nontcga_AFR=0.0096;ExAC_nontcga_AMR=0.1454;ExAC_nontcga_EAS=0.1921;ExAC_nontcga_FIN=0.0261;ExAC_nontcga_NFE=0.0451;ExAC_nontcga_OTH=0.0376;ExAC_nontcga_SAS=0.0152;AF=0.0411;AF_popmax=0.1990;AF_male=0.0424;AF_female=0.0395;AF_raw=0.0412;AF_afr=0.0114;AF_sas=.;AF_amr=0.1309;AF_eas=0.1990;AF_nfe=0.0408;AF_fin=0.0236;AF_asj=0.0276;AF_oth=0.0469;non_topmed_AF_popmax=0.2013;non_neuro_AF_popmax=0.1990;non_cancer_AF_popmax=.;controls_AF_popmax=0.1834;Kaviar_AF=0.0548052;Kaviar_AC=8473;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.804895;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +7 151573580 rs77902041 G A 100 PASS AC=7;AF=0.0277556;AN=214;NS=2504;DP=11371;EAS_AF=0;AMR_AF=0.0418;AFR_AF=0.0008;EUR_AF=0.0676;SAS_AF=0.0419;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0277556;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77902041;CLNALLELEID=54854;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0769;ExAC_nontcga_ALL=0.0483;ExAC_nontcga_AFR=0.0095;ExAC_nontcga_AMR=0.0301;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0523;ExAC_nontcga_NFE=0.0701;ExAC_nontcga_OTH=0.0448;ExAC_nontcga_SAS=0.0313;AF=0.0540;AF_popmax=0.0809;AF_male=0.0532;AF_female=0.0549;AF_raw=0.0539;AF_afr=0.0155;AF_sas=.;AF_amr=0.0354;AF_eas=0.0006;AF_nfe=0.0809;AF_fin=0.0571;AF_asj=0.0556;AF_oth=0.0600;non_topmed_AF_popmax=0.0774;non_neuro_AF_popmax=0.0815;non_cancer_AF_popmax=.;controls_AF_popmax=0.0762;Kaviar_AF=0.0508338;Kaviar_AC=7859;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.665623;ALLELE_END;VINYL_score=1 GT 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +7 151573731 rs66628686 G A 100 PASS AC=26;AF=0.188898;AN=214;NS=2504;DP=15358;EAS_AF=0.2391;AMR_AF=0.2522;AFR_AF=0.1309;EUR_AF=0.1213;SAS_AF=0.2403;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_016203:c.-26C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.188898;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs66628686;CLNALLELEID=252655;CLNDN=Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1259;ExAC_nontcga_ALL=0.1788;ExAC_nontcga_AFR=0.1402;ExAC_nontcga_AMR=0.3335;ExAC_nontcga_EAS=0.2638;ExAC_nontcga_FIN=0.1825;ExAC_nontcga_NFE=0.1273;ExAC_nontcga_OTH=0.1647;ExAC_nontcga_SAS=0.2230;AF=0.1447;AF_popmax=0.2624;AF_male=0.1453;AF_female=0.1440;AF_raw=0.1451;AF_afr=0.1353;AF_sas=.;AF_amr=0.2624;AF_eas=0.2372;AF_nfe=0.1319;AF_fin=0.1596;AF_asj=0.1241;AF_oth=0.1360;non_topmed_AF_popmax=0.2649;non_neuro_AF_popmax=0.2409;non_cancer_AF_popmax=.;controls_AF_popmax=0.2602;Kaviar_AF=0.162378;Kaviar_AC=25104;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000219921|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.865855;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 1|1 0|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 1|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 +8 11566168 rs539403410 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=5110;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.C347T:p.S116F,GATA4:NM_002052:exon2:c.C347T:p.S116F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs539403410;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.1;SIFT_converted_rankscore=0.784;SIFT_pred=T;Polyphen2_HDIV_score=0.857;Polyphen2_HDIV_rankscore=0.453;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.505;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=P;LRT_score=0.151;LRT_converted_rankscore=0.179;LRT_pred=N;MutationTaster_score=0.895;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-4.86;FATHMM_converted_rankscore=0.983;FATHMM_pred=D;PROVEAN_score=-0.45;PROVEAN_converted_rankscore=0.391;PROVEAN_pred=N;VEST3_score=0.181;VEST3_rankscore=0.425;MetaSVM_score=0.934;MetaSVM_rankscore=0.962;MetaSVM_pred=D;MetaLR_score=0.883;MetaLR_rankscore=0.961;MetaLR_pred=D;M-CAP_score=0.995;M-CAP_rankscore=1.000;M-CAP_pred=D;REVEL_score=0.587;REVEL_rankscore=0.837;MutPred_score=0.661;MutPred_rankscore=0.799;CADD_raw=3.029;CADD_raw_rankscore=0.424;CADD_phred=22.3;DANN_score=0.979;DANN_rankscore=0.360;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_rankscore=0.638;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.102;Eigen-PC-raw=0.092;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=3.42;GERP++_RS_rankscore=0.381;phyloP100way_vertebrate=4.056;phyloP100way_vertebrate_rankscore=0.569;phyloP20way_mammalian=0.776;phyloP20way_mammalian_rankscore=0.313;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=0.972;phastCons20way_mammalian_rankscore=0.466;SiPhy_29way_logOdds=14.005;SiPhy_29way_logOdds_rankscore=0.638;Interpro_domain=GATA-type_transcription_activator,_N-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847833|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1490706|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.929428;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11606364 rs10503425 G C 100 PASS AC=23;AF=0.0493211;AN=214;NS=2504;DP=21121;EAS_AF=0.001;AMR_AF=0.0764;AFR_AF=0.0083;EUR_AF=0.1402;SAS_AF=0.0419;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0493211;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs10503425;CLNALLELEID=426524;CLNDN=Congenital_heart_disease;CLNDISDB=MedGen:C0152021,SNOMED_CT:13213009;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1239;AF_popmax=0.1876;AF_male=0.1198;AF_female=0.1290;AF_raw=0.1239;AF_afr=0.0251;AF_sas=.;AF_amr=0.0542;AF_eas=0.0006;AF_nfe=0.1876;AF_fin=0.1485;AF_asj=0.1586;AF_oth=0.1547;non_topmed_AF_popmax=0.1987;non_neuro_AF_popmax=0.1884;non_cancer_AF_popmax=.;controls_AF_popmax=0.2307;Kaviar_AF=0.0242494;Kaviar_AC=3749;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1490707|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 0|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 +8 11607658 rs55980825 C T 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=18726;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.006;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon3:c.C825T:p.C275C,GATA4:NM_001308094:exon4:c.C204T:p.C68C,GATA4:NM_002052:exon4:c.C822T:p.C274C;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55980825;CLNALLELEID=53503;CLNDN=Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0030;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0010;AF=0.0026;AF_popmax=0.0040;AF_male=0.0026;AF_female=0.0025;AF_raw=0.0026;AF_afr=0.0010;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0009;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0030;non_neuro_AF_popmax=0.0040;non_cancer_AF_popmax=.;controls_AF_popmax=0.0029;Kaviar_AF=0.0025226;Kaviar_AC=390;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.937562;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11607693 rs116430078 C T 100 PASS AC=1;AF=0.000599042;AN=214;NS=2504;DP=18246;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0;EUR_AF=0.001;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon3:c.C860T:p.A287V,GATA4:NM_001308094:exon4:c.C239T:p.A80V,GATA4:NM_002052:exon4:c.C857T:p.A286V;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116430078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.047;SIFT_converted_rankscore=0.481;SIFT_pred=D;Polyphen2_HDIV_score=0.676;Polyphen2_HDIV_rankscore=0.471;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.369;Polyphen2_HVAR_rankscore=0.485;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.665;MutationAssessor_score_rankscore=0.427;MutationAssessor_pred=L;FATHMM_score=-6.03;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-3.59;PROVEAN_converted_rankscore=0.692;PROVEAN_pred=D;VEST3_score=0.707;VEST3_rankscore=0.709;MetaSVM_score=1.115;MetaSVM_rankscore=0.999;MetaSVM_pred=D;MetaLR_score=0.959;MetaLR_rankscore=0.987;MetaLR_pred=D;M-CAP_score=0.786;M-CAP_rankscore=0.983;M-CAP_pred=D;REVEL_score=0.658;REVEL_rankscore=0.874;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.411;CADD_raw_rankscore=0.885;CADD_phred=29.7;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.758;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.289;Eigen-PC-raw=0.293;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.516;integrated_fitCons_score_rankscore=0.203;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=5.942;phyloP100way_vertebrate_rankscore=0.697;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.156;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=18.719;SiPhy_29way_logOdds_rankscore=0.916;Interpro_domain=Zinc_finger,_GATA-type|Zinc_finger,_NHR/GATA-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.625e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.391e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.104e-05;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.900424;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612512 rs138748973 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18066;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138748973;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.885e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.185e-05;AF_popmax=6.483e-05;AF_male=5.724e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.483e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.022e-05;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.931764;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612519 rs142727860 A C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17997;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142727860;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.126e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.242e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.931764;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612665 rs76808439 A T 100 PASS AC=1;AF=0.0233626;AN=214;NS=2504;DP=18390;EAS_AF=0;AMR_AF=0.0014;AFR_AF=0.0862;EUR_AF=0.002;SAS_AF=0;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0233626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs76808439;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0066;ExAC_nontcga_AFR=0.0728;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0;AF=0.0230;AF_popmax=0.0814;AF_male=0.0238;AF_female=0.0219;AF_raw=0.0230;AF_afr=0.0814;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0813;non_neuro_AF_popmax=0.0844;non_cancer_AF_popmax=.;controls_AF_popmax=0.0909;Kaviar_AF=0.0062936;Kaviar_AC=973;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847839|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.612892;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 11612698 rs804280 C A 100 PASS AC=119;AF=0.734425;AN=214;NS=2504;DP=18339;EAS_AF=0.9861;AMR_AF=0.6902;AFR_AF=0.5961;EUR_AF=0.5646;SAS_AF=0.8681;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.734425;GWAS=rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560;ORegAnno_REGULATORY_P=rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560;avsnp150=rs804280;CLNALLELEID=143221;CLNDN=Congenital_heart_disease|not_provided;CLNDISDB=MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5839;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.6179;AF_popmax=0.9827;AF_male=0.6220;AF_female=0.6126;AF_raw=0.6177;AF_afr=0.5845;AF_sas=.;AF_amr=0.7648;AF_eas=0.9827;AF_nfe=0.5737;AF_fin=0.7098;AF_asj=0.4379;AF_oth=0.625;non_topmed_AF_popmax=0.9829;non_neuro_AF_popmax=0.9827;non_cancer_AF_popmax=.;controls_AF_popmax=0.9782;Kaviar_AF=0.123737;Kaviar_AC=19130;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.42803::0.357079;Heart_Left_Ventricle=Heart_Left_Ventricle::0.40625::0.279749;ENSEMBLReg=Name\x3dENSR00000847839|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.533169;ALLELE_END;VINYL_score=2 GT 0|1 0|0 1|0 1|1 1|0 1|1 0|1 0|1 1|1 0|1 0|1 1|1 1|1 0|0 1|1 1|0 1|1 1|1 0|1 0|1 1|1 1|0 0|1 1|1 0|0 0|0 0|1 1|0 1|1 0|0 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 0|1 1|0 0|0 0|1 1|0 0|0 0|0 1|1 0|0 0|1 1|1 1|1 1|1 1|0 1|0 1|1 0|0 1|1 0|1 1|1 1|0 0|0 1|1 1|1 0|0 1|0 0|1 0|1 0|0 1|0 0|1 1|0 1|0 1|0 0|0 0|1 1|0 0|1 1|0 1|1 0|0 0|1 1|1 0|1 0|0 0|0 1|0 1|1 0|1 1|0 0|0 0|1 0|1 1|0 0|1 0|1 1|1 1|1 0|1 0|1 1|1 1|1 1|0 1|0 1|1 1|1 1|1 1|1 +8 11614575 rs3729856 A G 100 PASS AC=21;AF=0.0429313;AN=214;NS=2504;DP=19680;EAS_AF=0.001;AMR_AF=0.0677;AFR_AF=0.0098;EUR_AF=0.1193;SAS_AF=0.0348;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon5:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G;1000g2015aug_all=0.0429313;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3729856;CLNALLELEID=53501;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.417;SIFT_converted_rankscore=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_converted_rankscore=0.230;LRT_pred=N;MutationTaster_score=0.402;MutationTaster_converted_rankscore=0.325;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=-5.31;FATHMM_converted_rankscore=0.990;FATHMM_pred=D;PROVEAN_score=-0.39;PROVEAN_converted_rankscore=0.136;PROVEAN_pred=N;VEST3_score=0.105;VEST3_rankscore=0.221;MetaSVM_score=-0.395;MetaSVM_rankscore=0.722;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.793;CADD_raw_rankscore=0.170;CADD_phred=9.418;DANN_score=0.972;DANN_rankscore=0.325;fathmm-MKL_coding_score=0.521;fathmm-MKL_coding_rankscore=0.288;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.697;Eigen-PC-raw=-0.579;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.473;integrated_fitCons_score=0.517;integrated_fitCons_score_rankscore=0.208;integrated_confidence_value=0;GERP++_RS=0.906;GERP++_RS_rankscore=0.184;phyloP100way_vertebrate=0.363;phyloP100way_vertebrate_rankscore=0.199;phyloP20way_mammalian=-0.670;phyloP20way_mammalian_rankscore=0.040;phastCons100way_vertebrate=0.799;phastCons100way_vertebrate_rankscore=0.295;phastCons20way_mammalian=0.884;phastCons20way_mammalian_rankscore=0.371;SiPhy_29way_logOdds=1.707;SiPhy_29way_logOdds_rankscore=0.027;Interpro_domain=.;GTEx_V6p_gene=ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11|ENSG00000154328.11;GTEx_V6p_tissue=Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.14;ExAC_nontcga_ALL=0.0921;ExAC_nontcga_AFR=0.0201;ExAC_nontcga_AMR=0.0401;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.1405;ExAC_nontcga_NFE=0.1328;ExAC_nontcga_OTH=0.1199;ExAC_nontcga_SAS=0.0557;AF=0.1063;AF_popmax=0.1589;AF_male=0.1014;AF_female=0.1125;AF_raw=0.1064;AF_afr=0.0190;AF_sas=.;AF_amr=0.0495;AF_eas=0.0006;AF_nfe=0.1589;AF_fin=0.1372;AF_asj=0.1793;AF_oth=0.1379;non_topmed_AF_popmax=0.1709;non_neuro_AF_popmax=0.1593;non_cancer_AF_popmax=.;controls_AF_popmax=0.2053;Kaviar_AF=0.0944554;Kaviar_AC=14603;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000847840|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.865437;ALLELE_END;VINYL_score=1.5 GT 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|0 0|1 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 +8 11616015 rs148278615 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18511;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=GATA4;GeneDetail.refGene=NM_001308094:c.*31C>T\x3bNM_002052:c.*31C>T\x3bNM_001308093:c.*31C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148278615;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.486e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0003;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0008;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.602493;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 +8 74888494 rs2306486 C T 100 PASS AC=61;AF=0.216653;AN=214;NS=2504;DP=9744;EAS_AF=0.1925;AMR_AF=0.232;AFR_AF=0.115;EUR_AF=0.2893;SAS_AF=0.2935;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TMEM70;GeneDetail.refGene=NM_001040613:c.-23C>T\x3bNM_017866:c.-23C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.216653;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2306486;CLNALLELEID=315216;CLNDN=Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2945;ExAC_nontcga_ALL=0.3544;ExAC_nontcga_AFR=0.2023;ExAC_nontcga_AMR=0.3852;ExAC_nontcga_EAS=0.2646;ExAC_nontcga_FIN=0.4676;ExAC_nontcga_NFE=0.3696;ExAC_nontcga_OTH=0.3584;ExAC_nontcga_SAS=0.3628;AF=0.2528;AF_popmax=0.2985;AF_male=0.2504;AF_female=0.2558;AF_raw=0.2531;AF_afr=0.1451;AF_sas=.;AF_amr=0.2332;AF_eas=0.2175;AF_nfe=0.2985;AF_fin=0.3448;AF_asj=0.1414;AF_oth=0.2724;non_topmed_AF_popmax=0.2934;non_neuro_AF_popmax=0.2978;non_cancer_AF_popmax=.;controls_AF_popmax=0.2762;Kaviar_AF=0.254518;Kaviar_AC=39349;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR,OREG1483664|N/A|E2F4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.505951;ALLELE_END;VINYL_score=1 GT 1|0 0|0 1|0 0|0 0|1 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 1|1 0|0 0|1 1|0 0|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 1|1 0|0 1|1 0|0 0|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 1|0 1|1 0|1 0|1 0|1 0|0 1|0 1|1 1|0 0|0 1|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|1 0|1 0|1 0|1 0|0 0|0 1|0 0|0 0|1 0|1 1|0 0|0 0|0 0|0 1|0 +8 74888616 rs8075 G C 100 PASS AC=42;AF=0.176118;AN=214;NS=2504;DP=10013;EAS_AF=0.1171;AMR_AF=0.1715;AFR_AF=0.2595;EUR_AF=0.1491;SAS_AF=0.1554;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P;1000g2015aug_all=0.176118;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs8075;CLNALLELEID=136044;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.06;SIFT_converted_rankscore=0.395;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_rankscore=0.552;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.775;Polyphen2_HVAR_rankscore=0.552;Polyphen2_HVAR_pred=P;LRT_score=0.985;LRT_converted_rankscore=0.079;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_score_rankscore=0.203;MutationAssessor_pred=L;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_converted_rankscore=0.459;PROVEAN_pred=N;VEST3_score=0.203;VEST3_rankscore=0.253;MetaSVM_score=-1.016;MetaSVM_rankscore=0.251;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.070;REVEL_rankscore=0.209;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.230;CADD_raw_rankscore=0.329;CADD_phred=17.71;DANN_score=0.995;DANN_rankscore=0.651;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_rankscore=0.212;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.416;Eigen-PC-raw=-0.571;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.442;integrated_fitCons_score_rankscore=0.072;integrated_confidence_value=0;GERP++_RS=2.71;GERP++_RS_rankscore=0.310;phyloP100way_vertebrate=0.908;phyloP100way_vertebrate_rankscore=0.280;phyloP20way_mammalian=0.071;phyloP20way_mammalian_rankscore=0.179;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=7.481;SiPhy_29way_logOdds_rankscore=0.264;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1301;ExAC_nontcga_ALL=0.1755;ExAC_nontcga_AFR=0.3067;ExAC_nontcga_AMR=0.1733;ExAC_nontcga_EAS=0.1031;ExAC_nontcga_FIN=0.1368;ExAC_nontcga_NFE=0.1656;ExAC_nontcga_OTH=0.1931;ExAC_nontcga_SAS=0.1837;AF=0.1659;AF_popmax=0.2742;AF_male=0.1688;AF_female=0.1623;AF_raw=0.1660;AF_afr=0.2742;AF_sas=.;AF_amr=0.1457;AF_eas=0.0970;AF_nfe=0.1276;AF_fin=0.0988;AF_asj=0.2621;AF_oth=0.1488;non_topmed_AF_popmax=0.2741;non_neuro_AF_popmax=0.2761;non_cancer_AF_popmax=.;controls_AF_popmax=0.2838;Kaviar_AF=0.0007309;Kaviar_AC=113;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1483664|N/A|E2F4|PAZAR,OREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.798051;ALLELE_END;VINYL_score=1 GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74890961 rs62509309 A G 100 PASS AC=106;AF=0.477835;AN=214;NS=2504;DP=14883;EAS_AF=0.3403;AMR_AF=0.598;AFR_AF=0.5212;EUR_AF=0.4553;SAS_AF=0.499;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.477835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62509309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4551;ExAC_nontcga_ALL=0.4882;ExAC_nontcga_AFR=0.5255;ExAC_nontcga_AMR=0.6376;ExAC_nontcga_EAS=0.3206;ExAC_nontcga_FIN=0.4885;ExAC_nontcga_NFE=0.4595;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5371;AF=0.4734;AF_popmax=0.5792;AF_male=0.4734;AF_female=0.4735;AF_raw=0.4734;AF_afr=0.5241;AF_sas=.;AF_amr=0.5792;AF_eas=0.3486;AF_nfe=0.4486;AF_fin=0.4869;AF_asj=0.4580;AF_oth=0.4756;non_topmed_AF_popmax=0.5854;non_neuro_AF_popmax=0.5670;non_cancer_AF_popmax=.;controls_AF_popmax=0.5574;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.477835;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62509309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4551;ExAC_nontcga_ALL=0.4882;ExAC_nontcga_AFR=0.5255;ExAC_nontcga_AMR=0.6376;ExAC_nontcga_EAS=0.3206;ExAC_nontcga_FIN=0.4885;ExAC_nontcga_NFE=0.4595;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.5371;AF=0.4734;AF_popmax=0.5792;AF_male=0.4734;AF_female=0.4735;AF_raw=0.4734;AF_afr=0.5241;AF_sas=.;AF_amr=0.5792;AF_eas=0.3486;AF_nfe=0.4486;AF_fin=0.4869;AF_asj=0.4580;AF_oth=0.4756;non_topmed_AF_popmax=0.5854;non_neuro_AF_popmax=0.5670;non_cancer_AF_popmax=.;controls_AF_popmax=0.5574;Kaviar_AF=0.0025679;Kaviar_AC=397;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|0 1|0 +8 74890985 rs113669789 C T 100 PASS AC=2;AF=0.000599042;AN=214;NS=2504;DP=16312;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113669789;CLNALLELEID=141380;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0015;AF=0.0023;AF_popmax=0.0035;AF_male=0.0024;AF_female=0.0021;AF_raw=0.0023;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0047;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.973845;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113669789;CLNALLELEID=141380;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0;dbscSNV_RF_SCORE=0.008;esp6500siv2_ea=0.0040;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0018;ExAC_nontcga_NFE=0.0042;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0015;AF=0.0023;AF_popmax=0.0035;AF_male=0.0024;AF_female=0.0021;AF_raw=0.0023;AF_afr=0.0013;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0035;AF_fin=0.0003;AF_asj=0;AF_oth=0.0047;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.002859;Kaviar_AC=442;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.973845;ALLELE_END;VINYL_score=2 GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74891164 rs75674446 A G 100 PASS AC=42;AF=0.186102;AN=214;NS=2504;DP=18652;EAS_AF=0.1161;AMR_AF=0.1772;AFR_AF=0.295;EUR_AF=0.1491;SAS_AF=0.1554;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75674446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1730;AF_popmax=0.2991;AF_male=0.1757;AF_female=0.1695;AF_raw=0.1728;AF_afr=0.2991;AF_sas=.;AF_amr=0.1478;AF_eas=0.0968;AF_nfe=0.1276;AF_fin=0.0990;AF_asj=0.2639;AF_oth=0.1522;non_topmed_AF_popmax=0.2991;non_neuro_AF_popmax=0.2989;non_cancer_AF_popmax=.;controls_AF_popmax=0.3079;Kaviar_AF=0.0274964;Kaviar_AC=4251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.186102;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75674446;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1730;AF_popmax=0.2991;AF_male=0.1757;AF_female=0.1695;AF_raw=0.1728;AF_afr=0.2991;AF_sas=.;AF_amr=0.1478;AF_eas=0.0968;AF_nfe=0.1276;AF_fin=0.0990;AF_asj=0.2639;AF_oth=0.1522;non_topmed_AF_popmax=0.2991;non_neuro_AF_popmax=0.2989;non_cancer_AF_popmax=.;controls_AF_popmax=0.3079;Kaviar_AF=0.0274964;Kaviar_AC=4251;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000225937|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-1 GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893419 rs61732273 C G 100 PASS AC=3;AF=0.0227636;AN=214;NS=2504;DP=20007;EAS_AF=0.0198;AMR_AF=0.0159;AFR_AF=0.0257;EUR_AF=0.0189;SAS_AF=0.0307;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C346G:p.L116V;1000g2015aug_all=0.0227636;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61732273;CLNALLELEID=136045;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_rankscore=0.192;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_rankscore=0.198;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_converted_rankscore=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.235;MutationTaster_pred=N;MutationAssessor_score=0.83;MutationAssessor_score_rankscore=0.210;MutationAssessor_pred=L;FATHMM_score=-0.06;FATHMM_converted_rankscore=0.636;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.191;PROVEAN_pred=N;VEST3_score=0.076;VEST3_rankscore=0.067;MetaSVM_score=-0.988;MetaSVM_rankscore=0.331;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.106;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.907;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.501;DANN_rankscore=0.043;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_rankscore=0.073;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.795;Eigen-PC-raw=-1.870;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-9.73;GERP++_RS_rankscore=0.004;phyloP100way_vertebrate=-0.030;phyloP100way_vertebrate_rankscore=0.122;phyloP20way_mammalian=-0.476;phyloP20way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.011;phastCons100way_vertebrate_rankscore=0.184;phastCons20way_mammalian=0.313;phastCons20way_mammalian_rankscore=0.239;SiPhy_29way_logOdds=1.839;SiPhy_29way_logOdds_rankscore=0.029;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6;GTEx_V6p_tissue=Muscle_Skeletal;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0177;ExAC_nontcga_ALL=0.0241;ExAC_nontcga_AFR=0.0176;ExAC_nontcga_AMR=0.0164;ExAC_nontcga_EAS=0.0174;ExAC_nontcga_FIN=0.0472;ExAC_nontcga_NFE=0.0206;ExAC_nontcga_OTH=0.0245;ExAC_nontcga_SAS=0.0387;AF=0.0231;AF_popmax=0.0215;AF_male=0.0228;AF_female=0.0235;AF_raw=0.0231;AF_afr=0.0185;AF_sas=.;AF_amr=0.0142;AF_eas=0.0186;AF_nfe=0.0215;AF_fin=0.0429;AF_asj=0.0345;AF_oth=0.0303;non_topmed_AF_popmax=0.0218;non_neuro_AF_popmax=0.0231;non_cancer_AF_popmax=.;controls_AF_popmax=0.0244;Kaviar_AF=0.0223218;Kaviar_AC=3451;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.302981;ALLELE_END;VINYL_score=0.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893653 rs77410280 G A 100 PASS AC=5;AF=0.0071885;AN=214;NS=2504;DP=20433;EAS_AF=0;AMR_AF=0.0058;AFR_AF=0.0008;EUR_AF=0.0268;SAS_AF=0.0041;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.G580A:p.V194M;1000g2015aug_all=0.0071885;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77410280;CLNALLELEID=215388;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_converted_rankscore=0.427;SIFT_pred=D;Polyphen2_HDIV_score=0.922;Polyphen2_HDIV_rankscore=0.492;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_rankscore=0.545;Polyphen2_HVAR_pred=P;LRT_score=0.057;LRT_converted_rankscore=0.225;LRT_pred=N;MutationTaster_score=0.946;MutationTaster_converted_rankscore=0.375;MutationTaster_pred=D;MutationAssessor_score=2.455;MutationAssessor_score_rankscore=0.715;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_converted_rankscore=0.383;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.100;MetaSVM_score=-0.568;MetaSVM_rankscore=0.661;MetaSVM_pred=T;MetaLR_score=0.156;MetaLR_rankscore=0.488;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.199;REVEL_rankscore=0.487;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.759;CADD_raw_rankscore=0.166;CADD_phred=9.206;DANN_score=0.995;DANN_rankscore=0.693;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.599;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.013;Eigen-PC-raw=-0.066;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=3.56;GERP++_RS_rankscore=0.397;phyloP100way_vertebrate=2.968;phyloP100way_vertebrate_rankscore=0.487;phyloP20way_mammalian=0.132;phyloP20way_mammalian_rankscore=0.216;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=14.893;SiPhy_29way_logOdds_rankscore=0.701;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0156;ExAC_nontcga_ALL=0.0120;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0063;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0180;ExAC_nontcga_NFE=0.0174;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0072;AF=0.0121;AF_popmax=0.0172;AF_male=0.0109;AF_female=0.0136;AF_raw=0.0121;AF_afr=0.0023;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0172;AF_fin=0.0175;AF_asj=0.0241;AF_oth=0.0175;non_topmed_AF_popmax=0.0174;non_neuro_AF_popmax=0.0175;non_cancer_AF_popmax=.;controls_AF_popmax=0.0221;Kaviar_AF=0.0122896;Kaviar_AC=1900;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000432|hsa-miR-141-3p|Experimental,MIMAT0002816|hsa-miR-494-3p|Experimental,MIMAT0000682|hsa-miR-200a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.338101;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893727 rs540563357 A G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21087;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A654G:p.S218S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540563357;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.418e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0003;AF_male=0.0002;AF_female=7.178e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000426|hsa-miR-132-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.245887;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 +8 74893821 rs1053079 A G 100 PASS AC=45;AF=0.258986;AN=214;NS=2504;DP=20707;EAS_AF=0.1478;AMR_AF=0.3631;AFR_AF=0.3971;EUR_AF=0.169;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A748G:p.T250A;1000g2015aug_all=0.258986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053079;CLNALLELEID=136046;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.772;SIFT_converted_rankscore=0.034;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_converted_rankscore=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.99;MutationAssessor_score_rankscore=0.012;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_converted_rankscore=0.354;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_converted_rankscore=0.029;PROVEAN_pred=N;VEST3_score=0.02;VEST3_rankscore=0.004;MetaSVM_score=-0.969;MetaSVM_rankscore=0.374;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-3.329;CADD_raw_rankscore=0.001;CADD_phred=0.001;DANN_score=0.180;DANN_rankscore=0.005;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.047;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.309;Eigen-PC-raw=-2.211;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.434;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=-2.28;GERP++_RS_rankscore=0.064;phyloP100way_vertebrate=-1.205;phyloP100way_vertebrate_rankscore=0.031;phyloP20way_mammalian=-0.936;phyloP20way_mammalian_rankscore=0.025;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.005;phastCons20way_mammalian_rankscore=0.090;SiPhy_29way_logOdds=3.487;SiPhy_29way_logOdds_rankscore=0.071;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000154582.12|ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1556;ExAC_nontcga_ALL=0.2029;ExAC_nontcga_AFR=0.3706;ExAC_nontcga_AMR=0.3666;ExAC_nontcga_EAS=0.1123;ExAC_nontcga_FIN=0.1413;ExAC_nontcga_NFE=0.1586;ExAC_nontcga_OTH=0.2006;ExAC_nontcga_SAS=0.2185;AF=0.2187;AF_popmax=0.3734;AF_male=0.2207;AF_female=0.2161;AF_raw=0.2189;AF_afr=0.3734;AF_sas=.;AF_amr=0.3432;AF_eas=0.1303;AF_nfe=0.1503;AF_fin=0.1418;AF_asj=0.3207;AF_oth=0.1980;non_topmed_AF_popmax=0.3730;non_neuro_AF_popmax=0.3780;non_cancer_AF_popmax=.;controls_AF_popmax=0.3843;Kaviar_AF=0.195114;Kaviar_AC=30165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.679883;ALLELE_END;VINYL_score=0.5 GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893839 rs542197363 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20591;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C766T:p.H256Y;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs542197363;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.066;SIFT_converted_rankscore=0.361;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_rankscore=0.237;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_converted_rankscore=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_score_rankscore=0.440;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_converted_rankscore=0.369;FATHMM_pred=T;PROVEAN_score=-1.96;PROVEAN_converted_rankscore=0.454;PROVEAN_pred=N;VEST3_score=0.127;VEST3_rankscore=0.144;MetaSVM_score=-1.072;MetaSVM_rankscore=0.090;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_rankscore=0.289;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.307;M-CAP_pred=T;REVEL_score=0.012;REVEL_rankscore=0.015;MutPred_score=0.135;MutPred_rankscore=0.039;CADD_raw=-1.050;CADD_raw_rankscore=0.030;CADD_phred=0.013;DANN_score=0.798;DANN_rankscore=0.125;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_rankscore=0.107;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.177;Eigen-PC-raw=-1.214;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.393;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=0.395;GERP++_RS_rankscore=0.155;phyloP100way_vertebrate=-0.227;phyloP100way_vertebrate_rankscore=0.091;phyloP20way_mammalian=-2.024;phyloP20way_mammalian_rankscore=0.005;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.010;phastCons20way_mammalian_rankscore=0.111;SiPhy_29way_logOdds=2.835;SiPhy_29way_logOdds_rankscore=0.051;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.859e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.561e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.653535;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +8 74893850 rs1053077 C G 100 PASS AC=45;AF=0.258986;AN=214;NS=2504;DP=20717;EAS_AF=0.1478;AMR_AF=0.3631;AFR_AF=0.3971;EUR_AF=0.169;SAS_AF=0.2055;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C777G:p.D259E;1000g2015aug_all=0.258986;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1053077;CLNALLELEID=136047;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN239153|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_converted_rankscore=0.237;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-2.3;MutationAssessor_score_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_converted_rankscore=0.346;FATHMM_pred=T;PROVEAN_score=0.75;PROVEAN_converted_rankscore=0.020;PROVEAN_pred=N;VEST3_score=0.04;VEST3_rankscore=0.020;MetaSVM_score=-0.953;MetaSVM_rankscore=0.405;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.052;REVEL_rankscore=0.151;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.736;CADD_raw_rankscore=0.012;CADD_phred=0.002;DANN_score=0.498;DANN_rankscore=0.042;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_rankscore=0.100;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.324;Eigen-PC-raw=-1.203;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.431;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=-1.73;GERP++_RS_rankscore=0.076;phyloP100way_vertebrate=0.026;phyloP100way_vertebrate_rankscore=0.134;phyloP20way_mammalian=-0.203;phyloP20way_mammalian_rankscore=0.101;phastCons100way_vertebrate=0.638;phastCons100way_vertebrate_rankscore=0.278;phastCons20way_mammalian=0.085;phastCons20way_mammalian_rankscore=0.183;SiPhy_29way_logOdds=0.924;SiPhy_29way_logOdds_rankscore=0.012;Interpro_domain=.;GTEx_V6p_gene=ENSG00000175606.6|ENSG00000154582.12|ENSG00000175606.6|ENSG00000253833.1|ENSG00000175606.6|ENSG00000175606.6;GTEx_V6p_tissue=Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Testis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1556;ExAC_nontcga_ALL=0.2028;ExAC_nontcga_AFR=0.3708;ExAC_nontcga_AMR=0.3650;ExAC_nontcga_EAS=0.1122;ExAC_nontcga_FIN=0.1404;ExAC_nontcga_NFE=0.1589;ExAC_nontcga_OTH=0.2006;ExAC_nontcga_SAS=0.2186;AF=0.2188;AF_popmax=0.3734;AF_male=0.2208;AF_female=0.2162;AF_raw=0.2189;AF_afr=0.3734;AF_sas=.;AF_amr=0.3440;AF_eas=0.1303;AF_nfe=0.1503;AF_fin=0.1421;AF_asj=0.3207;AF_oth=0.1993;non_topmed_AF_popmax=0.3730;non_neuro_AF_popmax=0.3786;non_cancer_AF_popmax=.;controls_AF_popmax=0.3845;Kaviar_AF=0.192999;Kaviar_AC=29838;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.677492;ALLELE_END;VINYL_score=0.5 GT 0|1 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 0|0 0|0 0|1 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 1|0 1|0 1|0 1|0 0|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 0|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|1 0|0 0|1 0|0 0|0 0|0 0|0 1|1 0|1 0|1 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|0 1|0 0|0 0|0 1|0 0|1 0|0 0|0 +8 74893880 rs7108 C T 100 PASS AC=106;AF=0.47504;AN=214;NS=2504;DP=20626;EAS_AF=0.3403;AMR_AF=0.5951;AFR_AF=0.5121;EUR_AF=0.4553;SAS_AF=0.499;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TMEM70;GeneDetail.refGene=NM_001040613:c.*497C>T\x3bNM_017866:c.*24C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.47504;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7108;CLNALLELEID=315225;CLNDN=Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4513;ExAC_nontcga_ALL=0.4970;ExAC_nontcga_AFR=0.5267;ExAC_nontcga_AMR=0.6377;ExAC_nontcga_EAS=0.3373;ExAC_nontcga_FIN=0.4904;ExAC_nontcga_NFE=0.4710;ExAC_nontcga_OTH=0.4970;ExAC_nontcga_SAS=0.5442;AF=0.4725;AF_popmax=0.5790;AF_male=0.4722;AF_female=0.4727;AF_raw=0.4721;AF_afr=0.5187;AF_sas=.;AF_amr=0.5790;AF_eas=0.3473;AF_nfe=0.4498;AF_fin=0.4873;AF_asj=0.4621;AF_oth=0.4743;non_topmed_AF_popmax=0.5852;non_neuro_AF_popmax=0.5668;non_cancer_AF_popmax=.;controls_AF_popmax=0.5610;Kaviar_AF=0.459774;Kaviar_AC=71082;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000418|hsa-miR-23b-3p|Experimental,MIMAT0000078|hsa-miR-23a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.799980;ALLELE_END;VINYL_score=0 GT 1|1 0|0 1|0 0|0 0|1 1|1 0|0 0|1 0|0 0|0 1|0 0|1 1|0 1|1 1|1 0|1 1|0 0|0 1|1 1|0 1|0 0|0 1|0 0|0 0|0 1|0 0|0 1|0 1|1 0|1 0|0 1|1 0|0 1|0 1|0 0|1 0|1 0|1 0|1 1|0 1|1 0|0 1|1 0|1 1|1 0|0 0|1 1|1 0|0 0|0 1|1 0|1 0|0 1|0 1|0 1|1 1|1 1|1 1|1 1|0 1|0 1|1 1|1 0|1 1|1 0|1 0|0 1|0 0|0 0|0 1|0 1|1 0|1 1|1 0|0 0|0 1|0 0|1 1|0 1|0 1|0 0|1 0|1 1|0 0|1 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|0 1|0 0|1 0|0 1|0 +9 7161999 rs144877987 A C 100 PASS AC=6;AF=0.00599042;AN=214;NS=2504;DP=19724;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0015;EUR_AF=0.0199;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144877987;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0101;AF_popmax=0.0156;AF_male=0.0101;AF_female=0.0100;AF_raw=0.0101;AF_afr=0.0028;AF_sas=.;AF_amr=0.0118;AF_eas=0.0006;AF_nfe=0.0156;AF_fin=0.0072;AF_asj=0.0035;AF_oth=0.0129;non_topmed_AF_popmax=0.0153;non_neuro_AF_popmax=0.0162;non_cancer_AF_popmax=.;controls_AF_popmax=0.0285;Kaviar_AF=0.0121024;Kaviar_AC=315;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +9 7162001 rs543610408 CT C 100 PASS AC=2;AF=0.000798722;AN=214;NS=2504;DP=19924;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.001;AA=TT|TT|T|deletion;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543610408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0008;AF_popmax=0.0011;AF_male=0.0009;AF_female=0.0006;AF_raw=0.0008;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0011;AF_fin=0;AF_asj=0.0172;AF_oth=0.0009;non_topmed_AF_popmax=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0003074;Kaviar_AC=8;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162074 rs147959309 A C 100 PASS AC=5;AF=0.0061901;AN=214;NS=2504;DP=19005;EAS_AF=0;AMR_AF=0.0159;AFR_AF=0;EUR_AF=0.0179;SAS_AF=0.002;AA=A|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0061901;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147959309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0076;AF_popmax=0.0142;AF_male=0.0073;AF_female=0.0080;AF_raw=0.0076;AF_afr=0.0022;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0123;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0148;non_neuro_AF_popmax=0.0126;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0112571;Kaviar_AC=293;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162249 rs555297162 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20078;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555297162;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=3.84e-05;Kaviar_AC=1;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 7162351 rs7868863 G A 100 PASS AC=73;AF=0.126797;AN=214;NS=2504;DP=18293;EAS_AF=0.001;AMR_AF=0.147;AFR_AF=0.18;EUR_AF=0.2157;SAS_AF=0.0787;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.126797;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7868863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1647;AF_popmax=0.1884;AF_male=0.1655;AF_female=0.1637;AF_raw=0.1649;AF_afr=0.1675;AF_sas=.;AF_amr=0.1608;AF_eas=0.0032;AF_nfe=0.1884;AF_fin=0.1171;AF_asj=0.2897;AF_oth=0.1611;non_topmed_AF_popmax=0.1846;non_neuro_AF_popmax=0.1896;non_cancer_AF_popmax=.;controls_AF_popmax=0.2114;Kaviar_AF=0.167704;Kaviar_AC=4365;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=-2 GT 0|0 0|0 1|0 0|0 0|0 0|0 0|0 1|0 1|1 1|1 0|1 1|1 0|0 0|0 0|0 1|0 1|0 0|0 0|1 0|0 0|1 0|0 0|1 1|1 1|0 0|0 1|0 1|0 1|0 0|1 1|1 1|1 1|1 0|1 1|0 1|1 0|1 1|0 0|0 0|0 0|0 1|0 1|0 0|0 1|1 1|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|1 0|1 1|0 0|0 0|1 1|0 0|0 1|1 0|1 1|0 0|0 0|1 1|0 1|1 0|0 0|0 0|0 1|0 0|0 0|0 0|0 1|0 1|0 0|0 0|0 0|1 0|0 0|1 1|1 0|0 0|1 0|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|1 1|0 0|0 +9 7162437 rs141088316 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=18748;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=KDM4C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141088316;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0004;AF_popmax=0.0005;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0006147;Kaviar_AC=16;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650692 rs145006100 G A 100 PASS AC=9;AF=0.00758786;AN=214;NS=2504;DP=10512;EAS_AF=0;AMR_AF=0.0086;AFR_AF=0.0008;EUR_AF=0.0278;SAS_AF=0.0031;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=FXN;GeneDetail.refGene=NM_000144:c.-7G>A\x3bNM_181425:c.-7G>A\x3bNM_001161706:c.-7G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00758786;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145006100;CLNALLELEID=190215;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0108;ExAC_nontcga_AFR=0.0174;ExAC_nontcga_AMR=0.0122;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0262;ExAC_nontcga_OTH=0.0217;ExAC_nontcga_SAS=0.0056;AF=0.0187;AF_popmax=0.0292;AF_male=0.0196;AF_female=0.0176;AF_raw=0.0187;AF_afr=0.0050;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0292;AF_fin=0.0159;AF_asj=0.0139;AF_oth=0.0203;non_topmed_AF_popmax=0.0284;non_neuro_AF_popmax=0.0279;non_cancer_AF_popmax=.;controls_AF_popmax=0.0227;Kaviar_AF=0.0045601;Kaviar_AC=705;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.411050;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650752 rs2481598 A G 100 PASS AC=214;AF=0.984824;AN=214;NS=2504;DP=9396;EAS_AF=1;AMR_AF=0.9986;AFR_AF=0.9433;EUR_AF=1;SAS_AF=1;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P;1000g2015aug_all=0.984824;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2481598;CLNALLELEID=134566;CLNDN=Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.9993;ExAC_nontcga_AFR=0.9709;ExAC_nontcga_AMR=1;ExAC_nontcga_EAS=1;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=1;ExAC_nontcga_OTH=1;ExAC_nontcga_SAS=0.9999;AF=0.9866;AF_popmax=1;AF_male=0.9860;AF_female=0.9874;AF_raw=0.9864;AF_afr=0.9524;AF_sas=.;AF_amr=0.9988;AF_eas=1;AF_nfe=0.9999;AF_fin=1;AF_asj=1;AF_oth=0.9972;non_topmed_AF_popmax=1;non_neuro_AF_popmax=1;non_cancer_AF_popmax=.;controls_AF_popmax=1;Kaviar_AF=0.273865;Kaviar_AC=42340;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.530374;ALLELE_END;VINYL_score=3 GT 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 1|1 +9 71650878 rs540739863 C T 100 PASS AC=1;AF=0.00119808;AN=214;NS=2504;DP=8939;EAS_AF=0.005;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs540739863;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0006;AF_popmax=0.0116;AF_male=0.0008;AF_female=0.0003;AF_raw=0.0006;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0116;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0119;non_neuro_AF_popmax=0.0116;non_cancer_AF_popmax=.;controls_AF_popmax=0.0110;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1481069|N/A|E2F4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1551842|N/A|ETS1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.574388;ALLELE_END;VINYL_score=5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71650906 rs571572380 G GGCCGCAC 100 PASS AC=4;AF=0.00339457;AN=214;NS=2504;DP=10615;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.006;SAS_AF=0.0112;VT=INDEL;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs571572380;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0018;AF=0.0061;AF_popmax=0.0096;AF_male=0.0064;AF_female=0.0058;AF_raw=0.0062;AF_afr=0.0018;AF_sas=.;AF_amr=0.0039;AF_eas=0;AF_nfe=0.0096;AF_fin=0.0025;AF_asj=0.0210;AF_oth=0.0076;non_topmed_AF_popmax=0.0091;non_neuro_AF_popmax=0.0096;non_cancer_AF_popmax=.;controls_AF_popmax=0.0135;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000235547|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1551842|N/A|ETS1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.638668;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71661314 rs141858334 G A 100 PASS AC=1;AF=0.00179712;AN=214;NS=2504;DP=20280;EAS_AF=0.0079;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FXN:NM_000144:exon2:c.G179A:p.R60H,FXN:NM_001161706:exon2:c.G179A:p.R60H,FXN:NM_181425:exon2:c.G179A:p.R60H;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141858334;CLNALLELEID=207727;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.506;SIFT_converted_rankscore=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.611;LRT_converted_rankscore=0.057;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.035;MutationAssessor_score_rankscore=0.081;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_converted_rankscore=0.958;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.037;VEST3_rankscore=0.055;MetaSVM_score=-0.336;MetaSVM_rankscore=0.740;MetaSVM_pred=T;MetaLR_score=0.570;MetaLR_rankscore=0.844;MetaLR_pred=D;M-CAP_score=0.027;M-CAP_rankscore=0.502;M-CAP_pred=D;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.060;CADD_raw_rankscore=0.088;CADD_phred=2.046;DANN_score=0.540;DANN_rankscore=0.050;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.017;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.395;Eigen-PC-raw=-1.412;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.325;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=-1.89;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-0.155;phyloP100way_vertebrate_rankscore=0.100;phyloP20way_mammalian=-0.607;phyloP20way_mammalian_rankscore=0.043;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.023;phastCons20way_mammalian_rankscore=0.138;SiPhy_29way_logOdds=9.639;SiPhy_29way_logOdds_rankscore=0.388;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0003;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0032;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.865e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0039;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0039;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0040;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0033;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.940842;ALLELE_END;VINYL_score=4.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71667986 rs7865353 G A 100 PASS AC=86;AF=0.349241;AN=214;NS=2504;DP=15402;EAS_AF=0.3631;AMR_AF=0.4135;AFR_AF=0.2474;EUR_AF=0.4105;SAS_AF=0.364;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.349241;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7865353;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4027;AF_popmax=0.4445;AF_male=0.3988;AF_female=0.4076;AF_raw=0.4035;AF_afr=0.2878;AF_sas=.;AF_amr=0.4157;AF_eas=0.3476;AF_nfe=0.4445;AF_fin=0.5286;AF_asj=0.3472;AF_oth=0.4279;non_topmed_AF_popmax=0.4535;non_neuro_AF_popmax=0.4444;non_cancer_AF_popmax=.;controls_AF_popmax=0.4744;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.008776;ALLELE_END;VINYL_score=1 GT 0|0 1|1 0|0 0|0 0|0 1|0 0|1 0|1 0|1 0|0 0|1 0|1 1|1 0|1 1|1 1|0 0|1 0|1 0|0 0|0 1|1 1|0 0|0 0|0 1|0 1|1 1|0 0|0 0|0 0|1 0|0 1|0 0|0 0|1 1|0 0|0 0|1 1|1 1|0 1|1 0|1 1|0 1|0 0|0 1|0 1|0 1|0 0|0 0|0 1|1 0|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 1|1 0|0 0|0 0|1 0|0 0|1 0|1 0|1 0|0 0|1 0|0 0|0 1|1 1|0 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|1 1|1 1|1 0|1 0|0 1|0 0|0 1|0 0|1 1|1 0|1 1|0 0|1 0|0 1|0 1|0 0|0 1|0 0|0 1|0 1|0 0|1 1|0 0|1 1|0 +9 71668197 rs3829062 T C 100 PASS AC=120;AF=0.501597;AN=214;NS=2504;DP=16276;EAS_AF=0.5645;AMR_AF=0.5476;AFR_AF=0.3964;EUR_AF=0.5338;SAS_AF=0.5133;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.501597;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3829062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.5149;ExAC_nontcga_ALL=0.5195;ExAC_nontcga_AFR=0.4008;ExAC_nontcga_AMR=0.5623;ExAC_nontcga_EAS=0.5699;ExAC_nontcga_FIN=0.4217;ExAC_nontcga_NFE=0.5329;ExAC_nontcga_OTH=0.5159;ExAC_nontcga_SAS=0.5264;AF=0.4729;AF_popmax=0.5759;AF_male=0.4739;AF_female=0.4716;AF_raw=0.4726;AF_afr=0.3917;AF_sas=.;AF_amr=0.5519;AF_eas=0.5759;AF_nfe=0.5127;AF_fin=0.4146;AF_asj=0.5966;AF_oth=0.5028;non_topmed_AF_popmax=0.5765;non_neuro_AF_popmax=0.5759;non_cancer_AF_popmax=.;controls_AF_popmax=0.5650;Kaviar_AF=0.513253;Kaviar_AC=79350;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.951041;ALLELE_END;VINYL_score=1 GT 1|1 0|0 0|1 1|1 1|1 0|1 1|0 1|0 1|0 1|1 1|0 1|0 0|0 1|0 0|0 0|1 1|0 1|0 1|1 1|1 0|0 0|0 1|1 1|1 0|1 0|0 0|1 1|1 1|1 1|0 1|1 0|1 1|1 1|0 0|1 1|1 1|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|1 0|1 1|1 1|1 0|0 1|0 1|0 1|1 0|1 1|1 0|1 1|0 0|0 0|0 1|1 1|1 1|0 0|1 1|0 1|0 1|0 1|1 1|0 1|1 1|1 0|0 0|1 1|0 0|0 1|0 1|1 1|1 1|0 1|1 0|1 1|1 1|1 0|0 0|0 0|0 1|0 1|1 0|1 1|1 0|1 1|0 0|0 1|0 0|1 1|0 1|1 0|0 0|1 1|1 0|1 1|1 0|1 0|1 1|0 0|1 1|0 0|1 +9 71680034 rs138487334 C T 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=7775;EAS_AF=0;AMR_AF=0;AFR_AF=0.0015;EUR_AF=0.001;SAS_AF=0.002;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138487334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138487334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0010;AF_popmax=0.0016;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0014;non_neuro_AF_popmax=0.0017;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;Kaviar_AF=0.0004334;Kaviar_AC=67;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=2 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 71687440 rs7025834 C T 100 PASS AC=91;AF=0.467053;AN=214;NS=2504;DP=20294;EAS_AF=0.5694;AMR_AF=0.5418;AFR_AF=0.4009;EUR_AF=0.4314;SAS_AF=0.4346;AA=C|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.467053;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7025834;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.4079;AF_popmax=0.5781;AF_male=0.4114;AF_female=0.4035;AF_raw=0.4081;AF_afr=0.4032;AF_sas=.;AF_amr=0.5653;AF_eas=0.5781;AF_nfe=0.3999;AF_fin=0.3434;AF_asj=0.3793;AF_oth=0.4072;non_topmed_AF_popmax=0.5787;non_neuro_AF_popmax=0.5781;non_cancer_AF_popmax=.;controls_AF_popmax=0.5656;Kaviar_AF=0.0843585;Kaviar_AC=13042;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|1 0|0 0|0 1|1 1|1 0|1 0|0 1|0 0|0 1|1 1|0 1|0 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 0|0 0|0 1|1 1|1 0|1 0|1 0|0 1|1 1|0 1|0 1|1 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|1 0|0 1|0 0|0 0|0 1|1 0|1 0|1 0|0 1|1 1|1 0|0 0|0 1|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 1|1 0|0 1|0 0|1 1|0 1|1 1|0 1|1 1|0 1|1 1|0 0|0 0|1 1|0 0|0 1|0 1|1 1|1 1|0 1|0 0|1 0|1 0|1 0|0 0|0 0|0 1|0 1|0 0|1 1|1 0|1 0|0 0|0 1|0 0|0 1|0 1|1 0|0 0|1 1|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 +9 71687451 rs186580424 G A 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=19972;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=G|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs186580424;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0025;AF_popmax=0.0059;AF_male=0.0021;AF_female=0.0029;AF_raw=0.0025;AF_afr=0.0003;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0033;AF_fin=0.0017;AF_asj=0.0069;AF_oth=0.0092;non_topmed_AF_popmax=0.0062;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.314843;ALLELE_END;VINYL_score=3 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103340369 rs1226590 G A 100 PASS AC=84;AF=0.302915;AN=214;NS=2504;DP=20078;EAS_AF=0.0804;AMR_AF=0.4827;AFR_AF=0.264;EUR_AF=0.4245;SAS_AF=0.3323;AA=g|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=CAVIN4;GeneDetail.refGene=NM_001018116:c.-57G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.302915;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1226590;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.3741;AF_popmax=0.4917;AF_male=0.3684;AF_female=0.3811;AF_raw=0.3736;AF_afr=0.2951;AF_sas=.;AF_amr=0.4917;AF_eas=0.1080;AF_nfe=0.4305;AF_fin=0.3956;AF_asj=0.4241;AF_oth=0.4127;non_topmed_AF_popmax=0.4938;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.5163;Kaviar_AF=0.0763574;Kaviar_AC=11805;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.401515::-0.146799;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000888957|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 +9 103340875 rs1226589 T C 100 PASS AC=65;AF=0.210663;AN=214;NS=2504;DP=19054;EAS_AF=0.003;AMR_AF=0.4395;AFR_AF=0.1853;EUR_AF=0.3469;SAS_AF=0.1564;AA=T|||;VT=SNP;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.210663;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1226589;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3068;ExAC_nontcga_ALL=0.2925;ExAC_nontcga_AFR=0.2140;ExAC_nontcga_AMR=0.4891;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.3700;ExAC_nontcga_NFE=0.3237;ExAC_nontcga_OTH=0.2924;ExAC_nontcga_SAS=0.2048;AF=0.2925;AF_popmax=0.4481;AF_male=0.2854;AF_female=0.3013;AF_raw=0.2929;AF_afr=0.2083;AF_sas=.;AF_amr=0.4481;AF_eas=0.0058;AF_nfe=0.3442;AF_fin=0.3512;AF_asj=0.3069;AF_oth=0.3318;non_topmed_AF_popmax=0.4481;non_neuro_AF_popmax=0.4206;non_cancer_AF_popmax=.;controls_AF_popmax=0.4472;Kaviar_AF=0.281607;Kaviar_AC=43537;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.329044::0.121283;ENSEMBLReg=Name\x3dENSR00000888957|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 1|1 1|0 1|1 0|1 0|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|0 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|0 0|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 0|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 0|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|1 1|0 1|0 1|1 0|0 0|0 1|0 0|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 0|1 1|1 0|1 0|1 0|1 +9 103348157 rs145794010 G C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20398;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G519C:p.S173S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145794010;CLNALLELEID=229637;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0004;AF_popmax=0.0012;AF_male=0.0004;AF_female=0.0003;AF_raw=0.0004;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0006;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;Kaviar_AF=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.166246;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348208 rs28623148 A T 100 PASS AC=4;AF=0.117812;AN=214;NS=2504;DP=21179;EAS_AF=0.2232;AMR_AF=0.0418;AFR_AF=0.0514;EUR_AF=0.0258;SAS_AF=0.2474;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A570T:p.S190S;1000g2015aug_all=0.117812;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28623148;CLNALLELEID=229638;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0236;ExAC_nontcga_ALL=0.0678;ExAC_nontcga_AFR=0.0559;ExAC_nontcga_AMR=0.0330;ExAC_nontcga_EAS=0.2182;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0244;ExAC_nontcga_OTH=0.0548;ExAC_nontcga_SAS=0.1917;AF=0.0393;AF_popmax=0.2088;AF_male=0.0425;AF_female=0.0354;AF_raw=0.0394;AF_afr=0.0525;AF_sas=.;AF_amr=0.0377;AF_eas=0.2088;AF_nfe=0.0216;AF_fin=0.0109;AF_asj=0.0207;AF_oth=0.0404;non_topmed_AF_popmax=0.2074;non_neuro_AF_popmax=0.2088;non_cancer_AF_popmax=.;controls_AF_popmax=0.2088;Kaviar_AF=0.0598957;Kaviar_AC=9260;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.394332;ALLELE_END;VINYL_score=-1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 +9 103348340 rs139982824 A G 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18979;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A702G:p.L234L;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139982824;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0015;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0026;AF_male=0.0002;AF_female=7.182e-05;AF_raw=0.0001;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0026;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0026;non_neuro_AF_popmax=0.0026;non_cancer_AF_popmax=.;controls_AF_popmax=0.0044;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.012559;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348343 rs143433142 G A 100 PASS AC=2;AF=0.000998403;AN=214;NS=2504;DP=18818;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.003;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G705A:p.R235R;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143433142;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002846;Kaviar_AC=44;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.325290;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348352 rs146549670 A G 100 PASS AC=2;AF=0.00119808;AN=214;NS=2504;DP=18864;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0.003;SAS_AF=0.002;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.A714G:p.G238G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146549670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.428835;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348538 rs145774333 C T 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=14818;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.C900T:p.S300S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145774333;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0005;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0013;AF_male=0.0002;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0013;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.576170;ALLELE_END;VINYL_score=1 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 103348634 rs2780956 G A 100 PASS AC=84;AF=0.293331;AN=214;NS=2504;DP=15010;EAS_AF=0.0804;AMR_AF=0.4784;AFR_AF=0.2405;EUR_AF=0.4254;SAS_AF=0.317;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.G996A:p.R332R;1000g2015aug_all=0.293331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2780956;CLNALLELEID=229643;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4166;ExAC_nontcga_ALL=0.3697;ExAC_nontcga_AFR=0.2898;ExAC_nontcga_AMR=0.5213;ExAC_nontcga_EAS=0.0857;ExAC_nontcga_FIN=0.4171;ExAC_nontcga_NFE=0.4021;ExAC_nontcga_OTH=0.3646;ExAC_nontcga_SAS=0.3195;AF=0.3679;AF_popmax=0.4929;AF_male=0.3619;AF_female=0.3754;AF_raw=0.3676;AF_afr=0.2792;AF_sas=.;AF_amr=0.4929;AF_eas=0.1080;AF_nfe=0.4275;AF_fin=0.3950;AF_asj=0.4167;AF_oth=0.4083;non_topmed_AF_popmax=0.4950;non_neuro_AF_popmax=0.4819;non_cancer_AF_popmax=.;controls_AF_popmax=0.5163;Kaviar_AF=0.370396;Kaviar_AC=57264;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.397727::-0.152916;Heart_Left_Ventricle=Heart_Left_Ventricle::0.400735::0.111962;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.267874;ALLELE_END;VINYL_score=1 GT 0|0 1|0 0|0 1|1 1|0 1|1 0|1 1|0 0|1 0|1 0|0 1|1 1|1 1|1 1|0 0|0 1|0 0|1 0|1 0|0 1|0 1|0 0|0 0|0 0|1 1|1 1|1 1|0 0|1 1|0 0|1 0|0 0|0 1|0 0|0 0|0 0|0 0|1 1|0 1|1 0|1 1|1 0|0 0|0 0|0 0|0 0|0 1|0 1|1 0|0 0|0 1|1 0|0 0|0 1|0 0|1 0|0 1|0 0|1 0|1 1|0 0|1 0|0 0|1 0|0 0|0 0|1 1|1 1|0 1|0 1|1 0|0 0|0 1|0 1|1 0|0 0|0 1|0 0|0 0|1 0|0 0|1 0|0 1|0 0|1 0|1 0|0 1|1 0|0 0|0 0|0 0|1 0|0 0|0 1|0 0|1 1|1 1|0 0|0 1|0 0|0 0|0 1|1 1|1 0|1 0|1 0|1 +9 108363426 rs41277797 C T 100 PASS AC=8;AF=0.0103834;AN=214;NS=2504;DP=18049;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0318;SAS_AF=0.001;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon4:c.C166T:p.R56C,FKTN:NM_006731:exon4:c.C166T:p.R56C,FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C,FKTN:NM_001351496:exon6:c.C166T:p.R56C,FKTN:NM_001351497:exon7:c.C97T:p.R33C;1000g2015aug_all=0.0103834;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277797;CLNALLELEID=99422;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.047;SIFT_converted_rankscore=0.440;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.917;Polyphen2_HVAR_rankscore=0.635;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.473;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.487;MutationTaster_pred=D;MutationAssessor_score=1.935;MutationAssessor_score_rankscore=0.520;MutationAssessor_pred=L;FATHMM_score=-2.5;FATHMM_converted_rankscore=0.913;FATHMM_pred=D;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.752;PROVEAN_pred=N;VEST3_score=0.273;VEST3_rankscore=0.547;MetaSVM_score=0.176;MetaSVM_rankscore=0.855;MetaSVM_pred=D;MetaLR_score=0.549;MetaLR_rankscore=0.835;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.704;CADD_raw_rankscore=0.778;CADD_phred=26.8;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_rankscore=0.624;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.533;Eigen-PC-raw=0.562;GenoCanyon_score=0.928;GenoCanyon_score_rankscore=0.269;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=2.540;phyloP100way_vertebrate_rankscore=0.451;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.651;SiPhy_29way_logOdds_rankscore=0.616;Interpro_domain=.;GTEx_V6p_gene=ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9;GTEx_V6p_tissue=Adipose_Subcutaneous|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid;dbscSNV_ADA_SCORE=0.9959;dbscSNV_RF_SCORE=0.826;esp6500siv2_ea=0.0283;ExAC_nontcga_ALL=0.0231;ExAC_nontcga_AFR=0.0054;ExAC_nontcga_AMR=0.0157;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0371;ExAC_nontcga_NFE=0.0389;ExAC_nontcga_OTH=0.0235;ExAC_nontcga_SAS=0.0027;AF=0.0183;AF_popmax=0.0245;AF_male=0.0179;AF_female=0.0188;AF_raw=0.0183;AF_afr=0.0049;AF_sas=.;AF_amr=0.0236;AF_eas=0;AF_nfe=0.0245;AF_fin=0.0291;AF_asj=0.0069;AF_oth=0.0285;non_topmed_AF_popmax=0.0235;non_neuro_AF_popmax=0.0245;non_cancer_AF_popmax=.;controls_AF_popmax=0.0183;Kaviar_AF=0.0183503;Kaviar_AC=2837;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.186017;ALLELE_END;VINYL_score=8 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|1 0|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 +9 108366499 rs34006675 G A 100 PASS AC=1;AF=0.0371406;AN=214;NS=2504;DP=19669;EAS_AF=0;AMR_AF=0.013;AFR_AF=0.1263;EUR_AF=0.008;SAS_AF=0.002;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon5:c.G373A:p.G125S,FKTN:NM_006731:exon5:c.G373A:p.G125S,FKTN:NM_001079802:exon6:c.G373A:p.G125S,FKTN:NM_001198963:exon6:c.G373A:p.G125S,FKTN:NM_001351496:exon7:c.G373A:p.G125S,FKTN:NM_001351497:exon8:c.G304A:p.G102S;1000g2015aug_all=0.0371406;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34006675;CLNALLELEID=18250;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.362;SIFT_converted_rankscore=0.363;SIFT_pred=T;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_rankscore=0.512;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_rankscore=0.481;Polyphen2_HVAR_pred=P;LRT_score=0.185;LRT_converted_rankscore=0.170;LRT_pred=N;MutationTaster_score=0.559;MutationTaster_converted_rankscore=0.312;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-2.26;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_converted_rankscore=0.214;PROVEAN_pred=N;VEST3_score=0.158;VEST3_rankscore=0.409;MetaSVM_score=-0.852;MetaSVM_rankscore=0.518;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_rankscore=0.055;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.245;REVEL_rankscore=0.556;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.784;CADD_raw_rankscore=0.275;CADD_phred=14.89;DANN_score=0.996;DANN_rankscore=0.753;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_rankscore=0.376;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.202;Eigen-PC-raw=-0.115;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.096;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=1.71;GERP++_RS_rankscore=0.233;phyloP100way_vertebrate=1.684;phyloP100way_vertebrate_rankscore=0.370;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=9.405;SiPhy_29way_logOdds_rankscore=0.374;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0114;ExAC_nontcga_ALL=0.0152;ExAC_nontcga_AFR=0.0944;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0060;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0101;ExAC_nontcga_SAS=0.0028;AF=0.0319;AF_popmax=0.0884;AF_male=0.0313;AF_female=0.0327;AF_raw=0.0319;AF_afr=0.0884;AF_sas=.;AF_amr=0.0153;AF_eas=0;AF_nfe=0.0107;AF_fin=0.0089;AF_asj=0.0069;AF_oth=0.0185;non_topmed_AF_popmax=0.0886;non_neuro_AF_popmax=0.0852;non_cancer_AF_popmax=.;controls_AF_popmax=0.0841;Kaviar_AF=0.015569;Kaviar_AC=2407;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.128450;ALLELE_END;VINYL_score=2.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108366734 rs34787999 G A 100 PASS AC=55;AF=0.158147;AN=214;NS=2504;DP=16548;EAS_AF=0.0913;AMR_AF=0.2205;AFR_AF=0.1339;EUR_AF=0.2724;SAS_AF=0.0982;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon5:c.G608A:p.R203Q,FKTN:NM_006731:exon5:c.G608A:p.R203Q,FKTN:NM_001079802:exon6:c.G608A:p.R203Q,FKTN:NM_001198963:exon6:c.G608A:p.R203Q,FKTN:NM_001351501:exon6:c.G212A:p.R71Q,FKTN:NM_001351496:exon7:c.G608A:p.R203Q,FKTN:NM_001351500:exon7:c.G212A:p.R71Q,FKTN:NM_001351497:exon8:c.G539A:p.R180Q,FKTN:NM_001351499:exon8:c.G212A:p.R71Q,FKTN:NM_001351502:exon9:c.G212A:p.R71Q;1000g2015aug_all=0.158147;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34787999;CLNALLELEID=99427;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.202;SIFT_converted_rankscore=0.353;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_rankscore=0.515;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_rankscore=0.350;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.352;LRT_pred=N;MutationTaster_score=0.078;MutationTaster_converted_rankscore=0.367;MutationTaster_pred=P;MutationAssessor_score=1.5;MutationAssessor_score_rankscore=0.380;MutationAssessor_pred=L;FATHMM_score=-2.41;FATHMM_converted_rankscore=0.907;FATHMM_pred=D;PROVEAN_score=-0.32;PROVEAN_converted_rankscore=0.360;PROVEAN_pred=N;VEST3_score=0.066;VEST3_rankscore=0.124;MetaSVM_score=-1.150;MetaSVM_rankscore=0.010;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_rankscore=0.000;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.672;CADD_raw_rankscore=0.498;CADD_phred=23.3;DANN_score=0.999;DANN_rankscore=0.962;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_rankscore=0.517;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.238;Eigen-PC-raw=0.344;GenoCanyon_score=0.564;GenoCanyon_score_rankscore=0.214;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.36;GERP++_RS_rankscore=0.765;phyloP100way_vertebrate=4.486;phyloP100way_vertebrate_rankscore=0.598;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=11.545;SiPhy_29way_logOdds_rankscore=0.498;Interpro_domain=.;GTEx_V6p_gene=ENSG00000106692.9;GTEx_V6p_tissue=Esophagus_Muscularis;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3190;ExAC_nontcga_ALL=0.2392;ExAC_nontcga_AFR=0.1598;ExAC_nontcga_AMR=0.2685;ExAC_nontcga_EAS=0.0940;ExAC_nontcga_FIN=0.2919;ExAC_nontcga_NFE=0.3049;ExAC_nontcga_OTH=0.2248;ExAC_nontcga_SAS=0.0940;AF=0.2578;AF_popmax=0.3227;AF_male=0.2569;AF_female=0.2589;AF_raw=0.2577;AF_afr=0.1591;AF_sas=.;AF_amr=0.2713;AF_eas=0.0951;AF_nfe=0.3227;AF_fin=0.2753;AF_asj=0.2797;AF_oth=0.2873;non_topmed_AF_popmax=0.3273;non_neuro_AF_popmax=0.3226;non_cancer_AF_popmax=.;controls_AF_popmax=0.3351;Kaviar_AF=0.248975;Kaviar_AC=38492;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.290441::-0.202686;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.339457;ALLELE_END;VINYL_score=3.5 GT 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +9 108370163 rs562170364 C G 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=13801;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon6:c.C711G:p.H237Q,FKTN:NM_006731:exon6:c.C711G:p.H237Q,FKTN:NM_001079802:exon7:c.C711G:p.H237Q,FKTN:NM_001198963:exon7:c.C711G:p.H237Q,FKTN:NM_001351501:exon7:c.C315G:p.H105Q,FKTN:NM_001351496:exon8:c.C711G:p.H237Q,FKTN:NM_001351500:exon8:c.C315G:p.H105Q,FKTN:NM_001351497:exon9:c.C642G:p.H214Q,FKTN:NM_001351499:exon9:c.C315G:p.H105Q,FKTN:NM_001351502:exon10:c.C315G:p.H105Q;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs562170364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.621;SIFT_converted_rankscore=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_rankscore=0.226;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.181;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_converted_rankscore=0.221;LRT_pred=N;MutationTaster_score=0.544;MutationTaster_converted_rankscore=0.314;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_score_rankscore=0.339;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_converted_rankscore=0.899;FATHMM_pred=D;PROVEAN_score=0.17;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST3_score=0.186;VEST3_rankscore=0.227;MetaSVM_score=-0.324;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.481;MetaLR_rankscore=0.802;MetaLR_pred=T;M-CAP_score=0.052;M-CAP_rankscore=0.649;M-CAP_pred=D;REVEL_score=0.181;REVEL_rankscore=0.457;MutPred_score=0.281;MutPred_rankscore=0.237;CADD_raw=2.079;CADD_raw_rankscore=0.311;CADD_phred=16.72;DANN_score=0.928;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.508;fathmm-MKL_coding_rankscore=0.285;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.223;Eigen-PC-raw=-0.050;GenoCanyon_score=0.162;GenoCanyon_score_rankscore=0.176;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=5.61;GERP++_RS_rankscore=0.853;phyloP100way_vertebrate=1.150;phyloP100way_vertebrate_rankscore=0.310;phyloP20way_mammalian=0.847;phyloP20way_mammalian_rankscore=0.346;phastCons100way_vertebrate=0.743;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.952;phastCons20way_mammalian_rankscore=0.428;SiPhy_29way_logOdds=7.657;SiPhy_29way_logOdds_rankscore=0.274;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000093|hsa-miR-93-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.048201;ALLELE_END;VINYL_score=7.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108380223 rs201625324 T A 100 PASS AC=2;AF=0.000399361;AN=214;NS=2504;DP=10238;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.002;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201625324;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=4 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 +9 108380355 rs17309806 C A 100 PASS AC=55;AF=0.178315;AN=214;NS=2504;DP=16658;EAS_AF=0.0903;AMR_AF=0.2248;AFR_AF=0.2088;EUR_AF=0.2724;SAS_AF=0.0982;AA=C|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon8:c.C1026A:p.L342L,FKTN:NM_006731:exon8:c.C1026A:p.L342L,FKTN:NM_001079802:exon9:c.C1026A:p.L342L,FKTN:NM_001198963:exon9:c.C1026A:p.L342L,FKTN:NM_001351501:exon9:c.C630A:p.L210L,FKTN:NM_001351496:exon10:c.C1026A:p.L342L,FKTN:NM_001351500:exon10:c.C630A:p.L210L,FKTN:NM_001351497:exon11:c.C957A:p.L319L,FKTN:NM_001351499:exon11:c.C630A:p.L210L,FKTN:NM_001351502:exon12:c.C630A:p.L210L;1000g2015aug_all=0.178315;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17309806;CLNALLELEID=99415;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive|not_provided;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3177;ExAC_nontcga_ALL=0.2463;ExAC_nontcga_AFR=0.2375;ExAC_nontcga_AMR=0.2711;ExAC_nontcga_EAS=0.0927;ExAC_nontcga_FIN=0.2915;ExAC_nontcga_NFE=0.3055;ExAC_nontcga_OTH=0.2254;ExAC_nontcga_SAS=0.0949;AF=0.2794;AF_popmax=0.3218;AF_male=0.2799;AF_female=0.2787;AF_raw=0.2793;AF_afr=0.2374;AF_sas=.;AF_amr=0.2801;AF_eas=0.0951;AF_nfe=0.3218;AF_fin=0.2741;AF_asj=0.2793;AF_oth=0.2943;non_topmed_AF_popmax=0.3262;non_neuro_AF_popmax=0.3217;non_cancer_AF_popmax=.;controls_AF_popmax=0.3339;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.998867;ALLELE_END;VINYL_score=1 GT 0|0 0|1 1|0 0|1 1|0 1|0 0|0 0|0 1|0 0|0 0|0 0|0 1|1 1|0 0|0 1|0 0|0 0|1 0|1 0|0 0|0 1|0 0|1 0|1 0|0 1|0 0|0 0|1 1|0 0|1 1|0 1|0 1|0 0|0 0|0 0|0 0|0 1|0 0|0 1|0 0|0 0|0 0|0 1|0 0|0 0|0 0|1 0|0 1|0 1|1 1|0 1|0 0|1 1|1 1|0 0|1 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 1|1 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|1 1|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 1|1 1|1 0|1 1|1 0|0 1|0 0|0 0|0 0|1 1|0 0|0 0|0 0|0 +9 108380417 rs118064041 A G 100 PASS AC=4;AF=0.0113818;AN=214;NS=2504;DP=17071;EAS_AF=0;AMR_AF=0.0245;AFR_AF=0.0015;EUR_AF=0.0298;SAS_AF=0.0082;AA=A|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0113818;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs118064041;CLNALLELEID=253258;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0375;ExAC_nontcga_ALL=0.0261;ExAC_nontcga_AFR=0.0065;ExAC_nontcga_AMR=0.0121;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0292;ExAC_nontcga_NFE=0.0406;ExAC_nontcga_OTH=0.0233;ExAC_nontcga_SAS=0.0096;AF=0.0259;AF_popmax=0.0384;AF_male=0.0247;AF_female=0.0274;AF_raw=0.0259;AF_afr=0.0069;AF_sas=.;AF_amr=0.0142;AF_eas=0;AF_nfe=0.0384;AF_fin=0.0285;AF_asj=0.0379;AF_oth=0.0360;non_topmed_AF_popmax=0.0385;non_neuro_AF_popmax=0.0394;non_cancer_AF_popmax=.;controls_AF_popmax=0.0369;Kaviar_AF=0.0275288;Kaviar_AC=4256;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;VINYL_score=0 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 1|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 108397426 rs199918689 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=20911;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.T1267C:p.Y423H,FKTN:NM_001079802:exon11:c.T1267C:p.Y423H,FKTN:NM_001198963:exon11:c.T1267C:p.Y423H,FKTN:NM_001351501:exon11:c.T871C:p.Y291H,FKTN:NM_001351496:exon12:c.T1267C:p.Y423H,FKTN:NM_001351500:exon12:c.T871C:p.Y291H,FKTN:NM_001351497:exon13:c.T1198C:p.Y400H,FKTN:NM_001351499:exon13:c.T871C:p.Y291H,FKTN:NM_001351502:exon14:c.T871C:p.Y291H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199918689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.792;PROVEAN_pred=D;VEST3_score=0.936;VEST3_rankscore=0.940;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.950;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.335;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.907;REVEL_rankscore=0.975;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.116;CADD_raw_rankscore=0.843;CADD_phred=28.3;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.791;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.880;Eigen-PC-raw=0.850;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=7.624;phyloP100way_vertebrate_rankscore=0.822;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.770;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.295213;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.T1267C:p.Y423H,FKTN:NM_001079802:exon11:c.T1267C:p.Y423H,FKTN:NM_001198963:exon11:c.T1267C:p.Y423H,FKTN:NM_001351501:exon11:c.T871C:p.Y291H,FKTN:NM_001351496:exon12:c.T1267C:p.Y423H,FKTN:NM_001351500:exon12:c.T871C:p.Y291H,FKTN:NM_001351497:exon13:c.T1198C:p.Y400H,FKTN:NM_001351499:exon13:c.T871C:p.Y291H,FKTN:NM_001351502:exon14:c.T871C:p.Y291H;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199918689;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.971;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_score_rankscore=0.834;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_converted_rankscore=0.970;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_converted_rankscore=0.792;PROVEAN_pred=D;VEST3_score=0.936;VEST3_rankscore=0.940;MetaSVM_score=1.095;MetaSVM_rankscore=0.995;MetaSVM_pred=D;MetaLR_score=0.950;MetaLR_rankscore=0.984;MetaLR_pred=D;M-CAP_score=0.335;M-CAP_rankscore=0.919;M-CAP_pred=D;REVEL_score=0.907;REVEL_rankscore=0.975;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.116;CADD_raw_rankscore=0.843;CADD_phred=28.3;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.791;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.880;Eigen-PC-raw=0.850;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.719;integrated_fitCons_score_rankscore=0.830;integrated_confidence_value=0;GERP++_RS=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=7.624;phyloP100way_vertebrate_rankscore=0.822;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=15.770;SiPhy_29way_logOdds_rankscore=0.778;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.416e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.295213;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131707989 rs140350881 G A 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=17753;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=G|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.C1594T:p.L532F;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140350881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.638;SIFT_converted_rankscore=0.050;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.984;Polyphen2_HVAR_rankscore=0.745;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-1.58;FATHMM_converted_rankscore=0.820;FATHMM_pred=D;PROVEAN_score=0.69;PROVEAN_converted_rankscore=0.022;PROVEAN_pred=N;VEST3_score=0.864;VEST3_rankscore=0.851;MetaSVM_score=0.000;MetaSVM_rankscore=0.823;MetaSVM_pred=D;MetaLR_score=0.565;MetaLR_rankscore=0.842;MetaLR_pred=D;M-CAP_score=0.035;M-CAP_rankscore=0.561;M-CAP_pred=D;REVEL_score=0.577;REVEL_rankscore=0.831;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.384;CADD_raw_rankscore=0.230;CADD_phred=12.70;DANN_score=0.874;DANN_rankscore=0.167;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.740;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.483;Eigen-PC-raw=0.503;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=4.77;GERP++_RS_rankscore=0.603;phyloP100way_vertebrate=5.725;phyloP100way_vertebrate_rankscore=0.679;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=13.868;SiPhy_29way_logOdds_rankscore=0.629;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.415e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000414|hsa-let-7g-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000065|hsa-let-7d-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.807201;ALLELE_END;VINYL_score=9 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708145 rs144209926 T C 100 PASS AC=1;AF=0.000199681;AN=214;NS=2504;DP=21763;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A1438G:p.I480V;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144209926;CLNALLELEID=364144;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.671;SIFT_converted_rankscore=0.045;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.508;MutationTaster_pred=D;MutationAssessor_score=-0.035;MutationAssessor_score_rankscore=0.050;MutationAssessor_pred=N;FATHMM_score=1.58;FATHMM_converted_rankscore=0.291;FATHMM_pred=T;PROVEAN_score=0.17;PROVEAN_converted_rankscore=0.051;PROVEAN_pred=N;VEST3_score=0.125;VEST3_rankscore=0.141;MetaSVM_score=-1.077;MetaSVM_rankscore=0.080;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.200;MetaLR_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.091;M-CAP_pred=T;REVEL_score=0.026;REVEL_rankscore=0.059;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.079;CADD_raw_rankscore=0.101;CADD_phred=3.389;DANN_score=0.927;DANN_rankscore=0.217;fathmm-MKL_coding_score=0.874;fathmm-MKL_coding_rankscore=0.467;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.238;Eigen-PC-raw=-0.005;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.46;GERP++_RS_rankscore=0.799;phyloP100way_vertebrate=3.425;phyloP100way_vertebrate_rankscore=0.523;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=14.705;SiPhy_29way_logOdds_rankscore=0.687;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=8.474e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=9.554e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.425746;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708504 rs138453255 T C 100 PASS AC=1;AF=0.000798722;AN=214;NS=2504;DP=18052;EAS_AF=0;AMR_AF=0.0043;AFR_AF=0;EUR_AF=0.001;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A1079G:p.Y360C;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs138453255;CLNALLELEID=229669;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.015;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.784;Polyphen2_HVAR_rankscore=0.556;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_converted_rankscore=0.334;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=2.79;MutationAssessor_score_rankscore=0.817;MutationAssessor_pred=M;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-6.34;PROVEAN_converted_rankscore=0.909;PROVEAN_pred=D;VEST3_score=0.525;VEST3_rankscore=0.566;MetaSVM_score=-0.751;MetaSVM_rankscore=0.579;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_rankscore=0.496;MetaLR_pred=T;M-CAP_score=0.025;M-CAP_rankscore=0.484;M-CAP_pred=D;REVEL_score=0.300;REVEL_rankscore=0.625;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.446;CADD_raw_rankscore=0.472;CADD_phred=23.0;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_rankscore=0.573;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.549;Eigen-PC-raw=0.546;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.722;integrated_fitCons_score_rankscore=0.854;integrated_confidence_value=0;GERP++_RS=5.23;GERP++_RS_rankscore=0.725;phyloP100way_vertebrate=5.914;phyloP100way_vertebrate_rankscore=0.695;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.994;phastCons20way_mammalian_rankscore=0.587;SiPhy_29way_logOdds=14.290;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0039;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0010;AF=0.0004;AF_popmax=0.0035;AF_male=0.0003;AF_female=0.0005;AF_raw=0.0004;AF_afr=0.0002;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0013325;Kaviar_AC=206;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.593310;ALLELE_END;VINYL_score=6 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131708883 rs139787271 T C 100 PASS AC=1;AF=0.000998403;AN=214;NS=2504;DP=20773;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.005;SAS_AF=0;AA=T|||;VT=SNP;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DOLK:NM_014908:exon1:c.A700G:p.M234V;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139787271;CLNALLELEID=101545;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.778;SIFT_converted_rankscore=0.033;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.336;LRT_pred=N;MutationTaster_score=0.863;MutationTaster_converted_rankscore=0.283;MutationTaster_pred=N;MutationAssessor_score=-1.31;MutationAssessor_score_rankscore=0.007;MutationAssessor_pred=N;FATHMM_score=-1.64;FATHMM_converted_rankscore=0.825;FATHMM_pred=D;PROVEAN_score=0.06;PROVEAN_converted_rankscore=0.063;PROVEAN_pred=N;VEST3_score=0.113;VEST3_rankscore=0.123;MetaSVM_score=-0.993;MetaSVM_rankscore=0.318;MetaSVM_pred=T;MetaLR_score=0.155;MetaLR_rankscore=0.487;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.200;M-CAP_pred=T;REVEL_score=0.135;REVEL_rankscore=0.371;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.828;CADD_raw_rankscore=0.039;CADD_phred=0.037;DANN_score=0.804;DANN_rankscore=0.128;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_rankscore=0.368;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.507;Eigen-PC-raw=-0.310;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.490;integrated_confidence_value=0;GERP++_RS=2.65;GERP++_RS_rankscore=0.305;phyloP100way_vertebrate=2.618;phyloP100way_vertebrate_rankscore=0.458;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.380;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=0.654;SiPhy_29way_logOdds_rankscore=0.008;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0014;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0021;ExAC_nontcga_NFE=0.0020;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0013;AF_popmax=0.0018;AF_male=0.0011;AF_female=0.0015;AF_raw=0.0013;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0023;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0019;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000241930|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253658|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.681988;ALLELE_END;VINYL_score=6.5 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 1|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 +9 131709581 rs531969689 A AT 100 PASS AC=1;AF=0.00259585;AN=214;NS=2504;DP=16230;EAS_AF=0;AMR_AF=0;AFR_AF=0;EUR_AF=0.0129;SAS_AF=0;AA=T|T|TT|insertion;VT=INDEL;EX_TARGET;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DOLK;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DOLK:NM_014908:exon1:c.1dupA:p.M1fs;1000g2015aug_all=0.00259585;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531969689;CLNALLELEID=177679;CLNDN=Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided;CLNDISDB=MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0092;ExAC_nontcga_ALL=0.0082;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0018;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0090;ExAC_nontcga_NFE=0.0139;ExAC_nontcga_OTH=0.0090;ExAC_nontcga_SAS=0.0009;AF=0.0066;AF_popmax=0.0097;AF_male=0.0063;AF_female=0.0071;AF_raw=0.0067;AF_afr=0.0020;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0097;AF_fin=0.0092;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.0102;non_neuro_AF_popmax=0.0098;non_cancer_AF_popmax=.;controls_AF_popmax=0.0117;Kaviar_AF=0.0001552;Kaviar_AC=24;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000241930|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1223386|N/A|SMARCA4|PAZAR,OREG1798525|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.197933;ALLELE_END;VINYL_score=11 GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|1 0|0 0|0 0|0 0|0
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/VINYL_output3_test.tabular Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,3740 @@ +chr start ref alt Nhom Nhet Nind Gene ScoreG ScoreCV ScoreOth ScoreAF ScoreEff ScoreSP ScoreTF Scoremir ScoreREG ScoreGWAS ScoreNS ScoreQTL ScoreNi ScoreT +10 18429624 C A 1 0 11 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18429627 C T 0 0 1 CACNB2 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +10 18429839 C T 0 0 1 CACNB2 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +10 18430167 G C 2 0 9 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18430169 G T 0 0 1 CACNB2 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +10 18430220 G A 5 0 34 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18439747 C T 1 0 31 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18439784 CTTTTTTT C 0 0 7 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18439900 G A 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 3 0 0 4 +10 18439926 T C 3 0 27 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18439993 A C 0 0 3 CACNB2 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +10 18691018 G A 28 0 116 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18691019 C A 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18787308 C T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 6 0 0 9 +10 18787448 C G 0 0 1 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18787485 G A 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18789724 T G 17 0 79 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18789924 C G 0 0 1 CACNB2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +10 18795351 G T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 18795447 G C 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18795555 G A 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18795596 G A 18 0 82 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +10 18803338 A G 0 0 4 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18804094 T C 14 0 86 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +10 18807246 G T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 18816565 G A 0 0 1 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18816633 C T 1 0 27 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18822993 C T 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18825201 T G 0 0 4 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825202 TGG GGG,T 39 4 4 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825203 G T 0 0 12 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825204 G T 0 0 12 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18827336 T C 0 0 1 CACNB2 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +10 18828191 C T 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18828230 T C 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18828371 C T 1 0 26 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18828455 C T 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18828486 C G 0 0 1 CACNB2 0 0 0 -2 0 0 0 1 0 0 3 0 0 2 +10 18828561 A G 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +10 18828635 T G 11 0 53 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18828645 C T 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 3 0 0 4 +10 18828663 G T 68 0 173 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 1 0 0 +10 18828670 T C 5 0 47 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 21074724 T C 0 0 12 NEBL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 21076080 A C 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21076100 C A 1 0 12 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21076285 C G 1 0 22 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21076307 C T 10 0 64 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21097556 G A 0 0 1 NEBL 2.0 0 0 2 8 0 0 1 0 0 0 0 0 13 +10 21098878 G A 0 0 17 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21098879 G A 0 0 43 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21101734 T C 0 0 2 NEBL 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +10 21104492 C T 0 0 2 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21104694 A T 18 0 90 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21108377 C T 3 0 57 NEBL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 21112068 G T 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21112111 A T 4 0 55 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21112137 A T 0 0 11 NEBL 2.0 0 0 -2 0 0.5 0 0 0 0 1.5 0 0 2 +10 21112258 A C 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21115332 T C 18 0 91 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21115347 A G 0 0 4 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21115491 G T 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21117573 T A 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21120116 A G 13 0 74 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21129588 T C 1 0 19 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21134282 C G 1 0 19 NEBL 2.0 0 0 -2 0 0 0 2 0 0 3 0 0 5 +10 21139389 T C 1 0 19 NEBL 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 21141398 G A 0 0 5 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21141429 G A 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21141440 AG A 4 0 53 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21141469 T C 107 0 214 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21147144 G A 0 0 2 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21148584 C A 46 0 141 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21157673 C T 0 0 1 NEBL 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +10 21157763 CAA CA,C 52 17 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21157774 AAAAT A 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21158728 C T 0 0 1 NEBL 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 21176945 G A 90 0 196 NEBL 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 21177128 G C 0 0 1 NEBL 2.0 0 0 0 8 0 0 1 1 0 0 0 0 12 +10 21177143 GA GAA,G 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21177156 GA G 46 0 141 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21178948 A T 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21185821 A C 107 0 214 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21185931 A G 0 0 1 NEBL 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 21185974 G A 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21250698 T C 0 0 1 NEBL 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 21309211 C T 0 0 5 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21461232 G A 1 0 30 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21461237 T A 0 0 1 NEBL 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +10 21461410 G GA 0 0 53 NEBL 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +10 21462769 G A 0 0 3 NEBL 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +10 21462878 G A 0 0 3 NEBL 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +10 67726514 A C 8 0 56 CTNNA3 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 67748412 G A 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 68040240 G T 0 0 4 CTNNA3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 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0 1 0 0 0 0 0 -1 +10 69407239 G A 0 0 1 CTNNA3 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 69407254 T A 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 69882040 A G 0 0 1 MYPN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 69902919 T C 0 0 4 MYPN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 69905300 G A 2 0 28 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69905411 T C 0 0 1 MYPN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 69908063 A T 1 0 6 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69908157 T C 1 0 6 MYPN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 69908241 G A 1 0 22 MYPN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 69909756 T C 1 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69909802 G A 1 0 14 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69909844 C A 0 0 1 MYPN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 69909899 G A 2 0 15 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69918442 CACTT C 1 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69925596 G C 0 0 1 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69926097 T C 43 0 140 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69926319 C A 7 0 49 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69926325 C T 9 0 53 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69926334 C G 19 0 87 MYPN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 69933921 G A 19 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 69933969 G A 19 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 69934012 C A 1 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69934258 C G 24 0 108 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69934259 G A 0 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69934467 A G 64 0 164 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69935059 A G 43 0 139 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69935062 T G 0 0 1 MYPN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 69935235 T C 107 0 214 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69948844 T C 107 0 214 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69948892 G C 0 0 2 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69954090 A G 0 0 4 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69954290 G A 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69954301 C T 3 0 42 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +10 69955140 T A 38 0 131 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69957279 T G 0 0 1 MYPN 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 69959097 G T 48 0 145 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69959174 C T 0 0 2 MYPN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +10 69959242 C A 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +10 69959281 G C 0 0 1 MYPN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 69959345 GCTGGGA G 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69959397 G A 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69961805 G A 0 0 3 MYPN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 69966602 G A 0 0 2 MYPN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 69969986 C T 12 0 77 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69969987 G A 0 0 2 MYPN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 75834538 C T 0 0 1 VCL 2.0 0 0 0 0 0 0 2 0 0 0 0 0 4 +10 75842152 G A 11 0 71 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75843100 T A 27 0 108 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75849921 T C 0 0 1 VCL 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 75849991 C A 0 0 1 VCL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 75855541 C T 0 0 1 VCL 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 75863750 C T 65 0 167 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75865065 G A 40 0 132 VCL 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +10 75865095 A G 0 0 7 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75865159 C T 0 0 16 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75866929 C A 41 0 133 VCL 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +10 75871735 C G 68 0 170 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75873892 C T 41 0 133 VCL 2.0 0 0 -2 0 0 0 1 1 0 0 1 0 3 +10 75873920 C G 0 0 1 VCL 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 75874190 T C 0 0 2 VCL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 75874192 T C 34 0 126 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75874667 A T 0 0 1 VCL 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88439094 G A 0 0 1 LDB3 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 88439175 G C 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 3 0 0 9 +10 88439866 G A 0 0 1 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88440018 G A 0 0 9 LDB3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 88441223 G A 0 0 2 LDB3 2.0 0 0 0 0 0 1 1 0 0 1.5 0 0 5.5 +10 88441269 C T 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 88441437 C T 0 0 2 LDB3 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +10 88441527 G A 0 0 1 LDB3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 88445385 G C 54 0 150 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88446811 G A 0 0 9 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88446830 G A 0 0 2 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88446985 T C 0 0 9 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +10 88447076 A T 0 0 2 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88447082 A C 0 0 9 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +10 88451649 A G 0 0 2 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88451715 A G 0 0 1 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88451869 G C 2 0 34 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88452190 G A 0 0 1 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 88452258 G A 0 0 6 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +10 88458996 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 36 6 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459000 C G 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459002 C T 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459050 G A 0 0 1 LDB3 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 88459055 G A 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 88459066 C T 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 3 0 0 9 +10 88466465 C T 0 0 12 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88469831 G A 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88469837 C G 0 0 6 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88476105 C G 0 0 1 LDB3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 88477932 CAT C 0 0 1 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 88485858 C T 0 0 2 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 92672564 T C 24 0 92 ANKRD1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 92675649 GA G 4 0 39 ANKRD1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 92675857 G A 3 0 16 ANKRD1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 92678728 G A 0 0 1 ANKRD1 2.0 0 0 0 0 1 0 1 1 0 1.5 0 0 6.5 +10 92678744 A T 70 0 170 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678747 A G 24 0 92 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678748 A T 69 0 169 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678761 A C 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678762 T A 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678764 T A 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678765 A G 42 0 112 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678789 T C 0 0 5 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 8.0 11 +10 92680886 G A 0 0 1 ANKRD1 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +10 101473218 A G 82 0 188 COX15 0 0 0 -2 0 0 0 0 0 0 1.5 0 0 -0.5 +10 101474499 T C 5 0 50 COX15 0 0 0 -2 0 0 0 0 0 0 0 1 0 -1 +10 101487354 G T 0 0 1 COX15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +10 112404302 G A 1 0 32 RBM20 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 112541062 G A 0 0 1 RBM20 2.0 0 0 -2 0 0 1 1 0 0 3 0 0 5 +10 112541073 T C 0 0 1 RBM20 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 112541335 A G 0 0 1 RBM20 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 112541676 T C 9 0 52 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112541678 G A 9 0 52 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112543217 G A 52 0 153 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544042 T C 0 0 1 RBM20 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 112544063 A C 30 0 109 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544244 G A 0 0 2 RBM20 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 112544505 G T 0 0 4 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544655 C T 3 0 41 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112559490 C A 0 0 1 RBM20 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 112559652 G A 0 0 1 RBM20 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 112570130 G C 0 0 5 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112570147 G A 0 0 1 RBM20 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 112570243 T C 18 0 91 RBM20 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 112572147 C T 0 0 1 RBM20 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 112572458 G C 107 0 214 RBM20 2.0 0 0 -2 0 0 1 1 1 0 1.5 0 0 4.5 +10 112579791 C T 0 0 1 RBM20 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 112583178 ATGTTGTATTTCTT A 0 0 1 RBM20 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 112583294 G A 0 0 3 RBM20 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +10 112590778 G C 0 0 1 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112590810 G C 107 0 214 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112590980 C T 0 0 1 RBM20 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 112595719 G C 69 0 172 RBM20 2.0 0 0 -2 0 0 0 1 1 0 3 0 0 5 +10 121429394 G A 0 0 7 BAG3 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +10 121429412 C T 0 0 1 BAG3 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +10 121429633 T C 2 0 34 BAG3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 121429645 G A 0 0 2 BAG3 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +10 121432040 C T 0 0 1 BAG3 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 121435955 A C 60 0 164 BAG3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 121436068 T G 0 0 23 BAG3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 121436100 A T 0 0 1 BAG3 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +10 121436286 C T 0 0 23 BAG3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 121436362 A G 69 0 176 BAG3 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +11 533415 G A 0 0 1 HRAS 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +11 533546 G A 0 0 2 HRAS 0 0 0 0 0 0 1 1 0 0 1.5 0 0 3.5 +11 533664 T A 0 0 2 HRAS 0 0 0 2 0 0 1 1 0 0 0 0 0 4 +11 533821 G C 0 0 1 HRAS 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +11 534197 C T 1 0 14 HRAS 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 534242 A G 8 0 69 HRAS 0 0 0 -2 0 0 1 1 1 0 0 2 0 3 +11 534332 G A 0 0 7 HRAS 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 2466274 G C 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 1 0 0 0 0 7 +11 2466501 C T 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 1 0 3 0 0 10 +11 2549229 C T 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2549230 G A 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2549257 C T 0 0 1 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2549329 TGG T 34 0 118 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2591802 T G 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2591893 C T 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2592033 G A 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2593185 C T 0 0 1 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2593416 A G 7 0 58 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2594037 C T 0 0 1 KCNQ1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 2594106 C T 0 0 1 KCNQ1 2.0 0 0 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KCNQ1 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +11 2799299 G T 1 0 9 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 2799369 C G 0 0 7 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 2799380 G A 0 0 2 KCNQ1 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +11 2869002 G A 0 0 1 KCNQ1 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +11 2869188 C T 4 0 45 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 6625566 A G 0 0 1 ILK 2.0 0 0 0 0 0 1 1 1 0 1.5 0 0 6.5 +11 6629332 T C 0 0 1 ILK 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 6629665 C T 9 0 58 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6630028 TC T 107 0 214 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6630043 C T 0 0 1 ILK 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +11 6630410 T C 7 0 51 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6630524 C T 0 0 1 ILK 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +11 6630833 G A 10 0 59 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6630962 C T 0 0 1 ILK 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 6631016 C T 7 0 51 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +11 6631300 G A 0 0 8 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6631561 A C 0 0 1 ILK 2.0 0 0 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CACNA1C 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +12 2558298 G A 8 0 63 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2558300 T C 8 0 63 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2602288 C T 0 0 1 CACNA1C 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +12 2602307 C G 0 0 11 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2613521 A G 23 0 96 CACNA1C 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +12 2613716 C T 0 0 26 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2614070 G T 0 0 1 CACNA1C 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +12 2621912 G A 0 0 20 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2622016 G C 0 0 1 CACNA1C 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +12 2659082 G T 11 0 59 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2666051 T C 0 0 1 CACNA1C 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +12 2675802 G A 1 0 5 CACNA1C 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +12 2676683 C T 61 0 166 CACNA1C 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +12 2690702 G A 39 0 127 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2692186 T G 53 0 153 CACNA1C 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +12 2693848 G A 0 0 1 CACNA1C 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0 0 0 0 0 1 +12 2757769 T C 53 0 154 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2757782 C T 52 0 152 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2760708 G A 48 0 148 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2760898 C T 0 0 13 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2760965 GA G 12 0 79 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2760970 G A 37 0 132 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2763143 G T 0 0 3 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2774833 T C 0 0 3 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2778044 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +12 2778061 C G 0 0 1 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2778272 G GC 0 0 11 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2786193 A G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +12 2787058 C T 0 0 9 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2788615 C T 0 0 3 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2788637 G A 0 0 1 CACNA1C 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +12 2788732 C A 0 0 2 CACNA1C 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +12 2788810 C T 0 0 11 CACNA1C 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4 +1 228548197 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228548257 G C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228548360 G A 0 0 3 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +1 228550344 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228550426 C T 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228550429 C T 0 0 5 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228552618 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228554767 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228556014 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228556403 C T 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228556788 C T 16 0 83 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228556986 G C 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228557755 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 1 0 3 0 0 6 +1 228557980 T C 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228558307 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228558389 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 3 0 0 7 +1 228558817 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 3 0 0 8 +1 228558892 C T 0 0 12 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 3 0 0 4 +1 228558952 T G 0 0 2 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228558992 CCA C 0 0 2 OBSCN 2.0 0 0 0 8 0 1 0 0 0 0 0 0 11 +1 228559008 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228559430 G A 0 0 7 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559450 G A 0 0 2 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559654 G A 0 0 5 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559967 C T 0 0 4 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228559994 C T 24 0 99 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 1 0 3.5 +1 228560034 C T 0 0 1 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228560139 A G 81 0 187 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228560251 G C 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228560700 T C 33 0 124 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228561779 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228562350 T C 0 0 1 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228562523 C G 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228563558 C A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228563748 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +1 228564757 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 3 0 0 5 +1 228564796 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228564884 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228565208 C T 0 0 2 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565209 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 3 0 0 5 +1 228565255 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 6 0 0 10 +1 228565311 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +1 228565329 G A 0 0 4 OBSCN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 228565445 C A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565556 T G 0 0 3 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565826 T C 0 0 2 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228566528 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 229567663 C GG 4 0 43 ACTA1 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +1 229567683 TC T 4 0 43 ACTA1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 229567826 G A 0 0 1 ACTA1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 229568231 T G 106 0 213 ACTA1 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +1 229568300 C A 0 0 1 ACTA1 2.0 0 0 2 0 0.5 0 1 1 0 0 0 0 6.5 +1 229568632 A G 4 0 44 ACTA1 2.0 0 0 -2 0 0 0 2 0 0 0 2 0 4 +1 229568637 C G 4 0 44 ACTA1 2.0 0 0 -2 0 0 0 2 0 0 0 2 0 4 +1 236849952 C T 0 0 11 ACTN2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +1 236849999 A G 0 0 1 ACTN2 2.0 0 0 0 0 0 1 1 1 0 1.5 0 0 6.5 +1 236881185 C T 0 0 1 ACTN2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 236882303 T C 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883421 C T 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883564 G A 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883585 T G 0 0 4 ACTN2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 236894647 G A 16 0 69 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236894667 G A 0 0 1 ACTN2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 236899042 G A 1 0 25 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236900334 C T 0 0 4 ACTN2 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +1 236900554 C T 0 0 4 ACTN2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 236900598 C T 62 0 158 ACTN2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 236902532 ATT A 1 0 8 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236902560 C G,T 44 6 8 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236902594 C G 72 0 172 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236902865 A C 49 0 134 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236907966 G A 0 0 3 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236908011 C T 0 0 1 ACTN2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 236908053 C T 0 0 1 ACTN2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 236908144 T C 0 0 3 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236911045 G A 0 0 1 ACTN2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 236911122 C T 0 0 7 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236911137 A G 1 0 19 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236912597 A G 1 0 25 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236912622 T A 0 0 1 ACTN2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 236914738 ATTGT A 0 0 6 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236914754 T C 0 0 4 ACTN2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 236914923 A G 0 0 1 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 236920782 A G 0 0 1 ACTN2 2.0 0 0 2 0 1 0 1 0 0 0 0 0 6 +1 236920960 A G 0 0 1 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236923197 C T 0 0 25 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236924506 A G 87 0 188 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236925844 G A 3 0 32 ACTN2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +1 237205759 G T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237205892 G A 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237519165 G T 6 0 53 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237527551 A G 0 0 8 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237532763 T G 0 0 3 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237532860 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237532996 G A 0 0 2 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237540615 A C 5 0 55 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237551298 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237551376 T A 32 0 120 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237586384 T C 1 0 24 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237586449 A T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237608663 A G 0 0 2 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237608842 C T 0 0 3 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237617757 C T 36 0 125 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237619875 ATT ATTT,ATTTT,AT,A 13 26 125 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237619971 T C 0 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237620049 T C 32 0 118 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237620108 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237632512 T C 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237632514 G T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237655057 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237655173 A T 0 0 8 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237655267 T C 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237656185 A G 7 0 80 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237656289 C T 0 0 2 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237664004 C G 0 0 5 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237670140 A G 47 0 143 RYR2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +1 237670190 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237675150 A AG 9 0 55 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237675152 A C 0 0 1 RYR2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 237675163 G A 17 0 81 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237693662 C T 0 0 3 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237711797 A G 94 0 201 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237730059 C T 0 0 1 RYR2 2.0 0 0 -2 0 0 1 1 0 0 1.5 0 0 3.5 +1 237730124 A G 98 0 205 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237732395 G A 50 0 150 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237732617 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237732673 C T 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237732684 T C 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237753074 AT ATT,A 16 1 1 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237753364 A C 20 0 101 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237754020 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237754340 A G 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237754963 A G 0 0 6 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237755076 A G 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 237755188 C T 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237755203 T C 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237759023 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237765458 G T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237765470 A T 19 0 96 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237774017 A G 0 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237778082 G A 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 237778084 G A 0 0 7 RYR2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 237780803 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237794913 A ATT 10 0 77 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237796837 G A 13 0 64 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237796850 A G 1 0 7 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237797082 T G 13 0 64 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237798342 G A 0 0 17 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237801770 T C 107 0 214 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237802559 T C 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237806606 G GT 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237806819 G A 1 0 23 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237811766 C T 0 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237811896 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +1 237813126 A G 23 0 92 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237814783 C T 23 0 91 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237814843 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237817514 GA G 5 0 40 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237817784 A G 3 0 33 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237823256 A C 2 0 12 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237823258 A C 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237829952 G A 1 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237831103 C A 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237831365 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237838001 G A 0 0 2 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237841339 A C 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237841390 A G 7 0 54 RYR2 2.0 0 0 -2 0 0 0 1 1 0 1.5 0 0 3.5 +1 237841393 A C 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 1 0 3 0 0 9 +1 237850666 C CT 55 0 151 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237850703 C T 0 0 6 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 8.0 12 +1 237850729 C T 0 0 10 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 8.0 12 +1 237850816 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237862360 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237862421 T A 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237862436 T C 57 0 155 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237863718 T G 107 0 214 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237865203 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237865451 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237870203 C T 0 0 6 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237870542 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237872714 GT G 101 0 208 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237872887 T C 0 0 6 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237875040 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237875068 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237880443 G A 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237881770 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237890437 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237893674 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237905520 A G 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237905568 T TC 5 0 61 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237905586 A T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237923053 C T 48 0 147 RYR2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 237923243 A G 0 0 18 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237934206 C T 0 0 2 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237941906 C A 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237941945 G A 0 0 7 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237942082 AACTG A 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237944814 C T 0 0 21 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237946964 T C 11 0 65 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237947000 C T 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237948286 A G 0 0 4 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237949440 C G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237949456 T C 0 0 15 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237951226 A G 0 0 2 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237951451 A G 31 0 113 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237951482 G A 10 0 62 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237955364 A G 1 0 14 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237955649 CTGTG C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237955678 T C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237955680 T C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237957146 G A 37 0 125 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237957161 A G 38 0 127 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237957309 A C 36 0 123 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237958750 A AT 22 0 109 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237961297 A ATGGTTGTGGTTG 0 0 5 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +1 237965065 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237965094 G T 15 0 80 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237965131 G A 15 0 80 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237965133 A AT 14 0 70 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237969638 A G 3 0 35 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237972148 C A 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237972152 T C 0 0 4 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237972189 A G 0 0 4 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237991614 G C 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237991767 T C 1 0 5 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237991862 TG T 1 0 10 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237993743 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237993798 C T 0 0 3 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237994957 G A 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237996016 C G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +20 30407387 G A 0 0 4 MYLK2 0 0 0 0 0 0 0 1 1 0 1.5 0 4 7.5 +20 30408306 C G 0 0 7 MYLK2 0 0 0 -2 0 0 0 1 1 0 3 0 0 3 +20 30409207 G A 0 0 1 MYLK2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +20 30409452 T C 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30409573 C T 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30409584 G C 0 0 14 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30411427 T C 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30412101 C T 0 0 1 MYLK2 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +20 30414334 G A 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414503 C T 0 0 5 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414528 G A 0 0 5 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414560 C G 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414578 G A 0 0 7 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414621 C T 0 0 1 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30418996 G A 0 0 4 MYLK2 0 0 0 0 0 0 0 1 0 0 0 0 4 5 +20 30419595 C T 0 0 1 MYLK2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +20 30419954 A G 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30421459 C T 2 0 44 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +20 31996336 T G 0 0 2 SNTA1 0 0 0 -2 0 0 0 1 0 0 3 0 0 2 +20 32000351 A G 48 0 144 SNTA1 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +20 32000462 C T 0 0 2 SNTA1 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +20 32000520 G C 0 0 2 SNTA1 0 0 0 0 0 0 1 1 1 0 3 0 0 6 +20 32031206 G A 0 0 2 SNTA1 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +20 32031227 G A 0 0 1 SNTA1 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +20 42743454 A G 12 0 66 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42743559 G A 0 0 1 JPH2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +20 42743616 G C 0 0 6 JPH2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +20 42744265 G C 1 0 14 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42744587 G C 6 0 51 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42744802 C T 0 0 3 JPH2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +20 42745033 G A 1 0 4 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42747247 C T 4 0 28 JPH2 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +20 42747254 G A 4 0 25 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42789053 G A 0 0 1 JPH2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +20 42789056 G C 0 0 1 JPH2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +20 42806581 G A 0 0 1 JPH2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +20 42806597 C T 0 0 1 JPH2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +20 42814931 T C 69 0 175 JPH2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +20 42815190 G A 69 0 175 JPH2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +20 61039958 T C 27 0 100 GATA5 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 61040014 C T 0 0 1 GATA5 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +20 61040453 C G 23 0 94 GATA5 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +20 61040951 C T 23 0 95 GATA5 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 61040991 C T 0 0 1 GATA5 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +20 61041422 C T 0 0 1 GATA5 0 0 0 2 0 0 1 0 0 0 0 0 0 3 +20 61041640 G A 0 0 1 GATA5 0 0 0 0 0 0 1 0 0 0 0 0 0 1 +20 61041651 G A 0 0 1 GATA5 0 0 0 2 0 0 1 0 0 0 0 0 0 3 +20 61041653 G C 18 0 94 GATA5 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +20 61048460 A G 0 0 2 GATA5 0 0 0 0 0 0 0 1 1 0 3 0 0 5 +20 61048549 G A 21 0 94 GATA5 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +20 61050082 C T 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 1.5 0 0 4.5 +20 61050154 A G 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 3 0 0 6 +20 61050379 T G 2 0 35 GATA5 0 0 0 -2 0 0 1 1 1 0 1.5 0 0 2.5 +20 61050552 G C 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 3 0 0 6 +20 61050625 G A 0 0 5 GATA5 0 0 0 -2 0 0 1 0 1 0 0 0 0 0 +21 35742722 C T 6 0 34 KCNE2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35742750 A G 0 0 4 KCNE2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35742947 T C 0 0 2 KCNE2 0 0 0 0 0 0 0 1 0 0 6 0 0 7 +21 35821609 G A 0 0 1 na 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +21 35821680 C T 0 0 1 na 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35821821 T C 36 0 127 na 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +21 35821849 C T 0 0 1 na 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +21 35821939 C T 0 0 1 KCNE1B 0 0 0 2 0 0 0 1 0 0 1.5 0 0 4.5 +22 19864694 C T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +22 19865925 C T 0 0 1 TXNRD2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +22 19867771 C T 6 0 41 TXNRD2 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +22 19868218 A G 61 0 162 TXNRD2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +22 19868228 G A 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +22 19868255 AG A 5 0 42 TXNRD2 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +22 19870831 C T 11 0 68 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19871018 C T 0 0 1 TXNRD2 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +22 19882984 T G 2 0 32 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 1.5 2 0 4.5 +22 19883123 C T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +22 19885548 G T 2 0 32 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 2 0 3 +22 19898818 C A 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19898837 A G 33 0 116 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19898886 C T 0 0 18 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19898887 G A 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19899061 G C 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19902671 C T 0 0 8 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19902896 C T 14 0 76 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19905802 G A 32 0 114 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19906367 G T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +22 19906370 G A 0 0 7 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19906511 G A 2 0 30 TXNRD2 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +22 19907099 C A 14 0 76 TXNRD2 2.0 0 0 -2 0 0 1 1 0 0 3 0 0 5 +22 19907118 G A 28 0 105 TXNRD2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +22 19907192 A G 32 0 113 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19918723 G A 0 0 10 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 39224112 T C 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 1.5 0 0 2.5 +2 39224351 G T 94 0 199 SOS1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 39224614 A G 0 0 2 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39224615 G GT 94 0 199 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39233500 G A 94 0 199 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39239386 T G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +2 39240758 C T 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39241107 G A 0 0 4 SOS1 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +2 39249896 A G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +2 39250386 A G 0 0 1 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39262348 C G 0 0 1 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39278394 A G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +2 39278497 A G 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39281730 G C 94 0 199 SOS1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 39281905 G A 0 0 2 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39283784 G C 0 0 4 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39285762 G C 0 0 6 SOS1 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +2 39347388 GC G 0 0 12 SOS1 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +2 47389342 A C 0 0 20 CALM2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 47389467 G A 0 0 2 CALM2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 47389842 T C 0 0 2 CALM2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 105977761 G A 6 0 40 FHL2 2.0 0 0 -2 0 0 1 2 0 0 0 0 0 3 +2 105977776 G A 2 0 25 FHL2 2.0 0 0 -2 0 0 1 2 0 0 0 0 0 3 +2 105977903 G C 0 0 25 FHL2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 105979730 C A 15 0 81 FHL2 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 105979752 G A 0 0 2 FHL2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 105979986 C T 0 0 3 FHL2 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +2 179391754 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179392015 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179392080 A T 0 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179392277 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179393111 A G 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179393691 G A 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179393840 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179393859 A G 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179395067 C G 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179395554 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 1 0 1.5 0 0 3.5 +2 179395555 C A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 1 0 1.5 0 0 3.5 +2 179395560 G A 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179395573 C T 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 1 0 3 0 0 5 +2 179395760 G A 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179395874 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179395958 T C 5 0 57 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179396162 C G 0 0 9 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179396354 G A 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179396573 T G 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179396766 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179396782 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179397561 C T 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179398195 C G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179398509 C A 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179398591 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179398747 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179398823 G A 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179398989 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179399071 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179399451 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179399537 A C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179399576 C G 0 0 4 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179399677 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179399936 G C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179400586 A G 0 0 3 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179400895 C T 0 0 13 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179401074 A C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179401311 C CA 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179401740 C T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179401742 C T 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179401777 A T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179402301 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179402474 G A 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 4 10 +2 179403425 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +2 179403593 G A 0 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179403750 C T 0 0 10 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179404197 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179404293 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179404402 T C 0 0 6 TTN 2.0 0 0 0 0 0 1 1 0 0 1.5 0 8.0 13.5 +2 179404461 C T 0 0 1 TTN 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +2 179404498 G C 0 0 1 TTN 2.0 0 0 0 0 0 1 1 0 0 3 0 0 7 +2 179404550 G A 0 0 1 TTN 2.0 0 0 -2 0 0 1 1 0 0 3 0 0 5 +2 179404628 T A 0 0 13 TTN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +2 179404786 A T 0 0 26 na 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179406003 C A 5 0 56 na 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179406191 C T 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179407663 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179408713 A G 0 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179410282 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179410468 A G 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179410666 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179410704 G A 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179410815 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179411011 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179411207 A T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179411212 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179411665 A G 1 0 41 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179412966 G A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179413110 G A 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179413452 G A 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179413657 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179414177 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179414318 C T 0 0 10 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179414633 C A 1 0 41 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179414705 A T 0 0 3 na 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179414800 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179415013 G A 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179415833 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179415942 A C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179416556 A C 0 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179416801 A C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179417091 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179417415 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179417633 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179418144 C T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179418306 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179419342 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179419792 G A 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179421609 C T 0 0 10 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179421694 A G 5 0 56 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179422073 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179422181 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179422286 C A 0 0 1 na 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 179422669 G T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179422834 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179423099 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179423168 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179424048 T C 0 0 9 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179424558 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179424734 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179424834 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179425470 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179425988 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179426219 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179426596 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179426682 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179427186 A G 5 0 57 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179427536 T C 5 0 57 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179428119 C T 0 0 4 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179428299 G T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179429004 G A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179429301 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179429612 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179430060 G T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179430105 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179430137 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179430997 G A 1 0 41 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179431076 C G 0 0 8 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179431594 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179431797 A T 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179432004 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179432185 A G 5 0 52 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179433221 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179433580 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179433654 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179434139 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179434303 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179434516 C T 0 0 15 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179435337 T G 0 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179435418 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179436020 G A 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179436257 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179436303 G C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179437034 C G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179438235 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179438866 C T 0 0 9 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179439511 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179440029 G A 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179440182 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179441119 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179441295 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179441738 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179441932 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179442292 TA T 1 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179442784 C G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179443540 A G 0 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179444137 A G 2 0 42 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179444166 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179444289 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179444626 A C 0 0 3 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179444768 C G 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179444939 C T 4 0 48 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179446381 C T 0 0 8 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179447848 T C 6 0 58 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179448315 A C 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179448967 A AAAC 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179449131 G A 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179449186 G A 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179449579 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179451420 G A 6 0 56 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179451906 G A 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179453429 G A 0 0 4 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179454394 A G 6 0 57 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179454530 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179455207 T C 6 0 57 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179455352 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179455595 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179456310 C G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179457147 G A 1 0 27 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179457446 A G 0 0 20 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179457457 G T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179457928 G T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179458591 C T 1 0 27 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179460433 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179460557 A T 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179462494 A G 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179462580 T C 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179462796 A G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179463422 A G 0 0 1 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179463446 T TA 0 0 9 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179463823 T A 0 0 5 na 0 0 0 0 0 0 0 0 0 0 0 0 8.0 8 +2 179463991 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179464245 A G 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179464527 T C 6 0 57 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179464637 A T 0 0 1 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179465706 A T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179466859 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179467070 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179467226 G C 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179468704 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179469386 A G 0 0 12 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179470047 C A 0 0 7 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179472223 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179472292 T A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179472319 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179472693 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179472825 T C 0 0 14 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179473238 C A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179473705 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179474075 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179474466 C T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179474668 G A 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179474787 T C 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179477267 T G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179477332 ATT AT 6 0 55 na 0 0 0 4.0 0 0 0 0 0 0 0 0 8.0 12 +2 179477435 C T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179477476 T G 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179477529 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179477717 A G 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179477802 G A 0 0 1 na 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 179478639 T A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179478829 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179479118 A AT 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179479245 C T 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179479741 G A 0 0 4 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179482089 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179482280 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179482309 CAATT C 0 0 7 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179482533 G T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179482852 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179482937 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179482994 G A 0 0 4 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 4 10 +2 179483040 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179484892 T A 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179485521 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179485599 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179485707 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179486037 C A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179486376 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179486478 T C 0 0 1 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179487314 C CT 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179495795 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179497025 A G 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179497133 C T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179498022 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179498042 T C 1 0 25 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179498303 T C 0 0 4 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179499038 A G 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179499530 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179500629 C T 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179500777 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179500790 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179501351 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179505896 A G 0 0 5 MIR548N 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +2 179506911 G A 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179509245 T C 0 0 3 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +2 179510833 A T 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179513923 A T 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179513966 G A 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179514208 G A 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514420 G A 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514433 T C 4 0 51 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514479 C T 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179514508 A C 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514941 TTTTCCTCTTCAGGAGCAA T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179515437 T G 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179515472 G A 0 0 2 MIR548N 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179515475 T C 0 0 1 MIR548N 0 0 0 2 0 1 0 1 0 0 0 0 0 4 +2 179515483 G C 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179516580 G C 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179516690 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179517019 A T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179517105 G A 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179517605 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179517632 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179517654 T C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179517725 T G 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179518003 A G 1 0 10 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179518170 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179518273 G A 0 0 1 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179518854 G A 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179518911 TAGC T 3 0 42 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519086 A T 0 0 1 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519330 C A 2 0 11 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519351 T C 2 0 11 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179522337 G A 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179522377 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179522513 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179522795 A G 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179523368 G A 3 0 51 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179527095 G A 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179527475 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179528068 C A 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179528335 T C 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179528378 C T 1 0 14 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179529273 A G 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179529497 T G 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179529584 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179531693 A G 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179534224 C T 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179534225 G A 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179535068 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179537200 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179538492 C T 0 0 1 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179539803 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179539812 T G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179539903 C A 6 0 54 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 1 0 -1 +2 179540461 G T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179541899 C G 50 0 148 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542046 A G 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542068 T C 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542674 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179543217 C T 2 0 40 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +2 179543382 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179543399 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179544427 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179544701 A G 0 0 1 TTN 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +2 179544983 C G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179545107 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179545177 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179545859 C T 5 0 49 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179547455 T C 0 0 3 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +2 179547465 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179547860 A G 4 0 45 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179548633 C CT 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179548704 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549048 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179549131 C T 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179549407 G A 0 0 4 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179549474 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179549500 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549608 G GA 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549707 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179550069 T C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179550302 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179550393 T G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179553542 G T 0 0 6 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179553566 A G 0 0 5 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 8.0 10 +2 179553730 ATTTTTTTT A 0 0 7 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179553781 T C 0 0 1 TTN 2.0 0 0 0 0 1 0 1 0 0 0 0 0 4 +2 179553787 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553790 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553793 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553917 G A 1 0 14 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179554305 C T 10 0 63 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179554549 G C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179558282 T A 4 0 50 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179558366 T C 6 0 55 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179563622 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179563702 C T 0 0 8 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179566398 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179566802 T TA 0 0 6 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179567230 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179567340 G A 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179567431 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179569147 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179569387 T A 0 0 10 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179569400 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179569436 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179569583 T A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179569705 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179570114 A T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179570122 C A 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179571448 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179571697 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179572222 G T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179572445 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179574384 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179575295 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179575511 C T 1 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179575949 G T 0 0 28 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179576855 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179577736 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179577998 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179578108 T TACAAA,TACAAAACAAA 4 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179578159 A G 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179578703 C T 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179578704 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179578730 G A 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179578937 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579093 T C 3 0 40 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 1 0 3.5 +2 179579212 T C 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +2 179579366 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579694 T A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579822 T A 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +2 179579977 G A 0 0 8 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179580171 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179580210 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179580434 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179580525 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179581835 C A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179581933 T G 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179581971 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179582063 A T 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179582162 C T 3 0 40 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179582166 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179582327 C T 3 0 40 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 1 0 3.5 +2 179582537 G T 5 0 50 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 1 0 3.5 +2 179582605 A G 3 0 42 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179582760 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179582824 C T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179582853 T C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179583317 G A 1 0 23 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179583326 T G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179583398 T C 3 0 42 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179583496 T G 3 0 40 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179583966 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179583967 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179584152 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179584366 G T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179584831 G C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179585257 G C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179585266 C T 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179585393 A G 5 0 50 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179585963 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179586604 C G 0 0 8 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179586901 G GT 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +2 179587130 C G 3 0 40 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 1 0 3 +2 179587546 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179587552 T C 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179587670 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 179587687 T C 5 0 50 TTN 2.0 0 0 -2 0 0 0 0 1 0 0 1 0 2 +2 179588535 G A 0 0 3 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +2 179588908 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179589058 G A 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179589217 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179589241 G A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179589260 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179590133 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179590329 C T 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179591757 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179591917 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179592161 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179593270 A G 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179593352 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179593862 G A 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179594059 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179594653 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179595117 C G 4 0 46 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179595372 T C 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179595577 GT GTT,G 0 1 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179595588 TA T 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179595589 A T 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179596554 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179597242 C A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179597273 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179597600 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179598228 A G 0 0 26 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179599355 G C 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179599473 C G 1 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179599667 G C 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179600303 G C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179600563 G A 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179600648 C T 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179603837 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179604101 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179604160 T G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179604366 T G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179604440 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179604742 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179604871 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179605180 C A,T 3 1 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179605380 T A 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179605705 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179605725 T C 0 0 9 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179605755 G C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179605991 G A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179606172 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179606538 G A 1 0 12 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179606590 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179610967 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179611279 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179611552 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179611711 C A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179611847 T G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179611851 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179611875 A G 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179612373 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179612383 C T 0 0 17 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179612511 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179612635 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 1 0 1.5 0 0 4.5 +2 179612883 A G 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613049 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179613191 T C 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613651 G A 1 0 7 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613763 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179614952 A G 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179615318 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179615321 G T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179615887 T C 96 0 202 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179615931 C G 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179615994 T C 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179616210 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179616481 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179616770 GAAA GAAAA,GAA,GA,G 16 19 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179618019 T A 96 0 202 TTN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 179620951 C T 96 0 202 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179621184 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179621477 C T 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179621503 C T 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179623758 C T 96 0 202 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179623772 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179623939 T C 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179628918 C T 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179629363 T C 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179629461 C T 96 0 202 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179631091 A T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179631214 T C 1 0 11 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179631357 TA T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179631362 A C 0 0 15 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179631364 AC A 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179632496 T C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179632598 C T 0 0 1 TTN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +2 179632710 T C 64 0 165 TTN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 179633644 G C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179634389 TA T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179634391 TA T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179634421 T G 0 0 42 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179634936 C T 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179634961 C A 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179635882 C T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179635888 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179635919 C T 0 0 11 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179636257 T A 0 0 6 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179637861 C G 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179638238 G A 1 0 22 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179638246 C G 0 0 2 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179638721 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179640152 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179641112 C A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179641336 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179641802 A G 0 0 1 LOC101927055 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 179641975 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179642425 G A 105 0 212 LOC101927055 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179642589 C G,T 0 0 212 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 8.0 16 +2 179643775 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179643886 A G 105 0 212 LOC101927055 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179643934 A G 105 0 212 LOC101927055 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179644035 G A 105 0 212 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179644160 T C 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179644848 C G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179644855 T C 83 0 188 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179647546 A G 0 0 8 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179647823 C T 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179647824 G A 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179648778 C A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179649134 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179650408 G A 6 0 56 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179650701 C T 12 0 81 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179650932 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179654032 T G 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179654121 G T 0 0 16 TTN 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +2 179654136 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179654695 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179656963 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179656977 A C 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179656993 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179658175 C T 1 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179658310 T C 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179659064 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179659110 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179659334 A C 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179659722 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179659757 T C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179659815 C G 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179659912 G A 1 0 12 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179659928 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179660030 T C 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179665231 G C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179665279 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179666830 G A 0 0 19 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179666956 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179666982 C A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179667090 C T 26 0 107 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179669199 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 179669227 CTGGAG C 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179669244 G GA 0 0 1 TTN 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 220283259 A G 107 0 214 DES 2.0 0 0 -2 0 0 0 1 1 0 0 1 0 3 +2 220283277 T C 107 0 214 DES 2.0 0 0 -2 0 0 0 1 1 0 0 1 0 3 +2 220283591 T A 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 6 0 0 12 +2 220283592 C T 0 0 9 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220283826 T G 107 0 214 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220284779 C T 43 0 133 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220284873 G A 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 3 0 0 9 +2 220284876 C T 0 0 4 DES 2.0 0 0 -2 0 0 0 1 1 0 3 0 0 5 +2 220285054 A G 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 6 0 0 12 +2 220285088 C T 0 0 5 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220285182 C A 0 0 7 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220285273 C T 0 0 1 DES 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 220285309 C T 17 0 81 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220285395 G A 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +2 220285666 G C 17 0 81 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220286142 G A 17 0 81 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220288562 C G 0 0 1 DES 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 220290674 G A 0 0 1 DES 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +3 8775589 C T 1 0 25 CAV3 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +3 8775661 C T 11 0 71 CAV3 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +3 8775702 G A 0 0 4 CAV3 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +3 8775724 G A 0 0 3 CAV3 0 0 0 0 0 0 0 0 1 0 0 0 4 5 +3 8787164 AAGCGGGTGGCTTCTGTG A 1 0 27 CAV3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +3 8787189 G C 0 0 10 CAV3 0 0 0 -2 0 0 0 1 0 0 0 1 0 0 +3 8787220 T C 5 0 38 CAV3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +3 8787313 C G 0 0 2 CAV3 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +3 8787330 C T 0 0 4 CAV3 0 0 0 0 0 0 0 1 0 0 3 0 4 8 +3 12626019 G A 0 0 3 RAF1 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +3 12626516 G A 24 0 92 RAF1 2.0 0 0 -2 0 0 0 1 0 0 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1 0 3 0 0 11 +4 114276986 A T 0 0 1 ANK2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +4 114278277 C T 1 0 14 ANK2 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +4 114278684 C T 0 0 1 ANK2 2.0 0 0 2 0 0 0 2 0 0 0 0 0 6 +4 114278935 C T 0 0 1 ANK2 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +4 114279422 A G 1 0 26 ANK2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 114279628 T C 0 0 4 ANK2 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +4 114279674 C A 1 0 8 ANK2 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +4 114280145 G A 0 0 2 ANK2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +4 114280169 G A 0 0 1 ANK2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +4 114284645 C T 1 0 24 ANK2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 114286207 T A 0 0 2 ANK2 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +4 114286357 ATG A 91 0 198 ANK2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 114289049 A C 0 0 1 ANK2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +4 114289062 G A 0 0 4 ANK2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 114294308 T C 3 0 38 ANK2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 114302634 C T 0 0 6 ANK2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +4 120072006 C T 0 0 1 MYOZ2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +4 120072187 A G 0 0 4 MYOZ2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 120072233 G C 47 0 145 MYOZ2 2.0 0 0 -2 0 0 0 0 0 0 0 2 0 2 +4 120072238 A G 47 0 145 MYOZ2 2.0 0 0 -2 0 0 0 0 0 0 0 2 0 2 +4 120079159 A G 47 0 145 MYOZ2 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +4 120085448 A G 1 0 7 MYOZ2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 120107098 G GT 1 0 37 MYOZ2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 186064502 G A 0 0 4 SLC25A4 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +4 186066373 T C 0 0 2 SLC25A4 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +4 186067934 G A 0 0 1 SLC25A4 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +4 186423397 G A 0 0 1 PDLIM3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +4 186423436 G A 0 0 4 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186423637 G A 54 0 153 PDLIM3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 186423655 G A 1 0 24 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186423677 G A 54 0 153 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186425571 A G 0 0 3 PDLIM3 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +4 186425638 C T 0 0 1 PDLIM3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +4 186427686 G A 0 0 1 PDLIM3 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +4 186427735 G A 0 0 5 PDLIM3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 186427841 T C 55 0 154 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186427871 A G 8 0 57 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186435435 C T 0 0 1 PDLIM3 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +4 186435563 A G 0 0 1 PDLIM3 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +4 186444698 A C 58 0 160 PDLIM3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +4 186446257 G A 0 0 2 PDLIM3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +4 186446365 G A 0 0 1 PDLIM3 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +4 186456617 A G 107 0 214 PDLIM3 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +5 218381 T TC 1 0 20 SDHA 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +5 218598 G A 26 0 100 SDHA 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +5 223646 A T 0 0 8 SDHA 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +5 224418 T G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 224633 A G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 224684 G A 0 0 2 SDHA 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 224692 G T 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 225515 G T 0 0 1 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 225709 G A 0 0 1 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 225941 C T 5 0 40 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 226160 A C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 226222 T C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 228278 CT C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 228362 T C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 230942 G C 0 0 3 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 230943 T C 0 0 3 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 230980 A G 66 0 167 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 231042 C T 0 0 1 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 231111 T C 48 0 140 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 231143 T C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 233560 G A 0 0 1 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 2 0 2 +5 233572 A G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 233698 G A 0 0 2 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 233734 C G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 235345 C G 0 0 2 SDHA 2.0 0 0 2 8 0 0 1 0 0 0 0 0 13 +5 235364 C T 0 0 1 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 235416 T C 0 0 1 SDHA 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +5 236482 A G 0 0 2 SDHA 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 236587 G T 0 0 3 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 236695 C T 0 0 1 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 236753 C T 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 236760 C A 1 0 22 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 240663 A T 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 251055 G A 0 0 1 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 251178 G A 0 0 4 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 251207 C T 0 0 1 SDHA 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +5 251419 C T 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 251469 G A 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 251526 C T 0 0 1 SDHA 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +5 251541 A G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 254442 C T 107 0 214 SDHA 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +5 254636 C T 0 0 17 SDHA 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +5 256422 A T 0 0 1 SDHA 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +5 256472 G A 1 0 53 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 256509 G A 1 0 19 SDHA 2.0 0 0 -2 0 0 0 1 0 0 1.5 1 0 3.5 +5 37294473 T C 8 0 68 NUP155 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 37298896 C T 0 0 1 NUP155 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +5 37307389 T C 0 0 5 NUP155 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 37309371 TAGA T 8 0 67 NUP155 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 37314287 T TA 0 0 1 NUP155 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 37318029 T C 0 0 1 NUP155 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +5 37325919 A C 0 0 5 NUP155 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +5 37325940 T C 3 0 26 NUP155 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +5 37327832 G A 0 0 1 NUP155 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +5 37328643 T C 0 0 1 NUP155 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 37331795 A G 0 0 1 NUP155 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 37333727 A G 3 0 29 NUP155 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +5 37337942 T C 0 0 1 NUP155 2.0 0 0 2 0 0 0 2 0 0 1.5 0 0 7.5 +5 37341352 T C 5 0 50 NUP155 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 37350390 C A 3 0 28 NUP155 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +5 37351270 C A 0 0 1 NUP155 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 37352816 C T 0 0 1 NUP155 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 37352829 G A 0 0 2 NUP155 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +5 37364133 CTTT C 0 0 1 NUP155 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +5 37364443 C T 107 0 214 NUP155 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 37371059 G A 0 0 4 NUP155 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +5 155756623 G T 0 0 1 SGCD 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 155771458 G T 0 0 1 SGCD 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 155771579 T C 25 0 100 SGCD 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 155935708 G A 0 0 9 SGCD 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 155935720 T C 0 0 3 SGCD 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 156022101 G A 0 0 1 SGCD 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 156074654 TAAATTGA T 80 0 186 SGCD 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +5 172659511 C A 12 0 71 na 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +5 172660004 C T 0 0 4 na 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +5 172660099 C T 0 0 1 na 0 0 0 2 0 0 1 1 0 0 3 0 0 7 +5 172660523 T A 17 0 98 na 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +5 172660527 T A 16 0 85 na 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +5 172661690 C T 0 0 1 na 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +5 172661843 A T 0 0 1 na 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +5 172662024 T C 5 0 60 na 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +6 7542148 C CA 2 0 23 DSP 2.0 0 0 -2 0 0 0 2 1 0 0 0 0 3 +6 7542236 G A 0 0 1 DSP 2.0 0 0 0 0 0 0 1 1 0 1.5 0 0 5.5 +6 7542253 G A 0 0 3 DSP 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +6 7542274 T C 0 0 15 DSP 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +6 7556063 C T 0 0 6 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7558318 T C 8 0 59 DSP 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +6 7563982 C T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +6 7563983 T G 107 0 214 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7564139 C G 10 0 60 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7565627 G T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 7565727 A T 0 0 10 DSP 2.0 0 0 -2 0 0 0 1 0 0 6 0 0 7 +6 7565801 C G 0 0 1 DSP 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 7566745 G GA 0 0 4 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7567970 C T 63 0 166 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7569353 T C 0 0 1 DSP 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 7571874 G A 64 0 167 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7572026 T A 19 0 92 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7572262 A G 64 0 167 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7574536 T C 0 0 4 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7574852 T C 0 0 15 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7576527 G A 68 0 170 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7577260 C T 7 0 50 DSP 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +6 7577354 C A 44 0 141 DSP 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +6 7578189 G A 8 0 62 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7578819 T G 68 0 170 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7578823 G A 68 0 170 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7579705 G C 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +6 7580285 A C 0 0 1 DSP 2.0 0 0 2 0 0 1 1 1 0 3 0 0 10 +6 7580346 G C 0 0 1 DSP 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +6 7580386 G A 0 0 3 DSP 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +6 7580935 C T 0 0 1 DSP 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +6 7580958 A G 0 0 8 DSP 2.0 0 0 -2 0 0 1 1 0 0 1.5 0 0 3.5 +6 7581001 C A 0 0 1 DSP 2.0 0 0 -2 0 0 1 1 0 0 1.5 0 0 3.5 +6 7581196 G A 0 0 2 DSP 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +6 7581636 G A 3 0 33 DSP 2.0 0 0 -2 0 0 1 1 0 0 1.5 0 0 3.5 +6 7581641 G A 0 0 1 DSP 2.0 0 0 0 0 0 1 1 0 0 3 0 0 7 +6 7582993 A T 0 0 6 DSP 2.0 0 0 -2 0 0 0 2 0 0 3 0 0 5 +6 7583885 T C 0 0 3 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7583946 C T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +6 7584617 C T 15 0 83 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7584876 C T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +6 7585670 C A 0 0 9 DSP 2.0 0 0 -2 0 0 1 2 0 0 0 0 0 3 +6 7585967 G C 55 0 153 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7586120 T A 0 0 2 DSP 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +6 26087649 G A 0 0 1 LOC108783645 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +6 26087856 T A 16 0 71 LOC108783645 0 0 0 -2 0 0 1 1 1 0 0 2 0 3 +6 26091047 A G 0 0 1 LOC108783645 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +6 26091179 C G 4 0 38 HFE 0 0 0 -2 0 0 0 1 0 0 3 0 0 2 +6 26091185 A T 0 0 1 HFE 0 0 0 -2 0 0 0 1 0 0 3 0 0 2 +6 26091309 T C 0 0 1 HFE 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +6 26091336 T C 11 0 75 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26092865 C G 0 0 1 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26093125 G A 0 0 1 HFE 0 0 0 0 0 0 0 1 0 0 3 0 0 4 +6 26093141 G A 0 0 6 HFE 0 0 0 -2 0 0 0 1 0 0 6 1 0 6 +6 26093236 G A 0 0 16 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26093297 G A 0 0 1 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26093303 T C 0 0 13 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26094346 G A 0 0 1 HFE 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +6 26094367 G A 19 0 91 HFE 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +6 26094515 C T 0 0 1 HFE 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +6 76538403 G A 32 0 110 MYO6 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 76540088 A G 0 0 1 MYO6 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 76545684 T C 2 0 33 MYO6 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 76550237 A G 2 0 33 MYO6 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 76554593 G A 102 0 209 MYO6 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 76558200 G A 0 0 1 MYO6 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 76558260 A AT 0 0 7 MYO6 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 76564953 A G 0 0 2 MYO6 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +6 76566810 A G 0 0 3 MYO6 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +6 76572240 T G 0 0 1 MYO6 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 76572389 A G 0 0 1 MYO6 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 76576290 C T 1 0 14 MYO6 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 76595634 C A 2 0 33 MYO6 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 76596728 C T 11 0 71 MYO6 2.0 0 0 -2 0 0 0 0 0 0 0 2 0 2 +6 76599787 C T 0 0 1 MYO6 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +6 76607983 T A 18 0 84 MYO6 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +6 76608251 T C 0 0 1 MYO6 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +6 76617511 A ATGTGTGTG 0 0 53 MYO6 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +6 76618299 A G 0 0 1 MYO6 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +6 76624538 G A 0 0 5 MYO6 2.0 0 0 -2 0 0 0 1 0 0 6 0 0 7 +6 76624741 C T 11 0 71 MYO6 2.0 0 0 -2 0 0 0 2 0 0 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LAMA4 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +6 112457471 G A 44 0 142 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 112460365 C T 0 0 1 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 6 0 0 7 +6 112460511 C T 0 0 1 LAMA4 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +6 112460541 G A 6 0 60 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +6 112461135 C T 0 0 1 LAMA4 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +6 112463253 T G 0 0 1 LAMA4 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 112463419 C T 0 0 1 LAMA4 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +6 112463545 G A 0 0 1 LAMA4 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +6 112466086 C T 0 0 1 LAMA4 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +6 112469480 C T 0 0 1 LAMA4 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 112471688 G C 8 0 64 LAMA4 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +6 112476210 T C 8 0 63 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +6 112480041 A G 3 0 22 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 112486397 G A 0 0 2 LAMA4 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +6 112493774 C T 0 0 2 LAMA4 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +6 112493790 T C 1 0 2 LAMA4 2.0 0 0 0 0 0 0 1 0 0 0 0 0 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A G 0 0 3 CACNA2D1 0 0 0 0 0 0 0 1 0 0 0 0 4 5 +7 81689726 C T 0 0 1 CACNA2D1 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 81693768 T C 1 0 29 CACNA2D1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 81695859 G A 0 0 4 CACNA2D1 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +7 81746295 A G 0 0 1 CACNA2D1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +7 81765930 T G 0 0 1 CACNA2D1 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 81765996 C CA 1 0 20 CACNA2D1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 81765997 A G 0 0 1 CACNA2D1 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 81799966 G A 0 0 4 CACNA2D1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 81799990 T C 0 0 4 CACNA2D1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 81799996 C G 0 0 4 CACNA2D1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 81800028 CAGA C 0 0 1 CACNA2D1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +7 81964578 G GA 5 0 50 CACNA2D1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 81964649 T G 0 0 3 CACNA2D1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 82072789 G A 0 0 1 CACNA2D1 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +7 91603004 G A 0 0 1 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91603115 C T 0 0 2 AKAP9 2.0 0 0 -2 0 0 0 1 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0 87 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91672166 T C 0 0 4 AKAP9 2.0 0 0 0 0 0 1 1 0 0 0 0 4 8 +7 91674302 G A 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +7 91691601 C T 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91706252 A G 0 0 1 AKAP9 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +7 91707197 C T 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91708722 G A 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91708898 A G 4 0 31 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +7 91708935 T G 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 91711791 A AT,G 21 0 1 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91712609 A C 0 0 2 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91712678 T G 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +7 91712698 A G 19 0 85 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +7 91713016 TA T 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91713017 A T 18 0 73 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91713018 A T 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91713972 C T 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91714911 C T 107 0 214 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +7 91714998 G A 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +7 91715662 C T 19 0 85 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91718874 A G 0 0 1 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91726280 G A 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +7 91726470 T C 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91726927 A C 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 91727018 C A 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +7 91727385 G A 19 0 86 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 91727479 A T 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +7 91727487 A G 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91729127 A G 0 0 2 AKAP9 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 91730115 G C 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91732083 G A 0 0 1 AKAP9 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 91734904 A G 0 0 1 AKAP9 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +7 91734913 C T 0 0 1 AKAP9 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +7 91735104 A C 0 0 2 AKAP9 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +7 91735110 A G 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +7 91736794 T A 21 0 88 AKAP9 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +7 91736803 AT A 0 0 1 AKAP9 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +7 91739498 G A 0 0 1 AKAP9 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +7 92077202 G A 0 0 1 GATAD1 2.0 0 0 2 0 0 1 1 1 0 0 0 0 7 +7 92077203 G A 3 0 25 GATAD1 2.0 0 0 -2 0 0 1 1 1 0 1.5 1 0 5.5 +7 92084022 G GT 0 0 12 GATAD1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +7 92085763 C T 0 0 5 GATAD1 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +7 128470838 C T 2 0 21 FLNC 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +7 128471084 G A 0 0 1 FLNC 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +7 128475583 C A 0 0 1 FLNC 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +7 128475624 C T 0 0 2 FLNC 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +7 128475627 C T 0 0 1 FLNC 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 128477472 T C 3 0 26 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128477547 T C 3 0 26 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128477620 G A 2 0 24 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128477865 G A 0 0 8 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128478103 C T 0 0 8 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128478605 C T 0 0 1 FLNC 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 128480099 C T 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128480123 C A 0 0 3 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128480229 C A 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128480620 T C 0 0 1 FLNC 0 0 0 2 0 0 1 1 0 0 3 0 0 7 +7 128480666 C T 0 0 4 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128480791 C G 2 0 27 FLNC 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +7 128480793 GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 0 0 4 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128481035 G T 0 0 2 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128481060 G A 0 0 6 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128481196 T C 0 0 8 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128481312 G A 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128481386 T G 0 0 1 FLNC 0 0 0 2 0 0 1 1 0 0 1.5 0 0 5.5 +7 128481578 A C 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 6 0 0 8 +7 128482258 T C 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128482440 C G 0 0 9 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128482806 G T 0 0 4 FLNC 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +7 128482834 C T 0 0 5 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128482835 C T 0 0 4 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128483227 T C 4 0 34 FLNC 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 128483635 C T 0 0 1 FLNC 0 0 0 2 0 0 1 1 0 0 0 0 0 4 +7 128484373 T C 0 0 1 FLNC 0 0 0 2 0 0 1 1 0 0 0 0 0 4 +7 128484816 A G 4 0 34 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128484977 T G 0 0 1 FLNC 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +7 128485240 C T 0 0 2 FLNC 0 0 0 -2 0 0 1 1 0 0 6 0 0 6 +7 128486091 C T 0 0 4 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128486252 T TGGGCAGGTGGGCAGGGCC 0 0 8 FLNC 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +7 128486363 C T 2 0 35 FLNC 0 0 0 -2 0 0 1 1 0 0 0 1 0 1 +7 128486412 G A 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 3 0 0 5 +7 128486446 C T 0 0 8 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128486579 C T 0 0 2 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128487866 T C 107 0 214 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128487893 G A 0 0 8 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128488072 C T 0 0 1 FLNC 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 128488734 G A 2 0 21 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128488800 G A 0 0 4 FLNC 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +7 128490012 C T 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +7 128490553 T C 3 0 37 FLNC 0 0 0 -2 0 0 1 0 0 0 0 1 0 0 +7 128490926 C T 0 0 1 FLNC 0 0 0 0 0 0 1 1 0 0 6 0 0 8 +7 128491497 C T 0 0 4 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128491603 T C 0 0 8 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128492817 G A 0 0 1 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128492825 G A 0 0 1 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128495338 C T 0 0 9 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 128497040 C T 0 0 1 FLNC 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +7 128498228 C T 0 0 1 FLNC 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +7 128498630 TACACAC TACAC,T 2 2 1 FLNC 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 136699781 G A 0 0 1 CHRM2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +7 136700303 G A 0 0 1 CHRM2 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 136700385 A G 0 0 1 CHRM2 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 136700726 C G 0 0 1 CHRM2 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +7 150644388 C G 0 0 1 KCNH2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +7 150644394 C T 3 0 50 KCNH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 150644428 C A 0 0 3 KCNH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +7 150644755 C T 0 0 1 KCNH2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +7 150644866 C T 0 0 1 KCNH2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +7 150644890 C G 0 0 1 KCNH2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +7 150645015 G A 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +7 150645023 G A 1 0 20 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150645534 T G 10 0 63 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 1.5 0 0 3.5 +7 150645682 G A 40 0 134 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150647569 T C 42 0 138 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150647969 C T 11 0 67 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150647970 C G 11 0 67 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150648198 A G 42 0 138 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150648229 G A 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +7 150648789 T C 11 0 76 KCNH2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +7 150648986 G C 15 0 78 KCNH2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +7 150649531 G A 3 0 50 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150649542 G A 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +7 150649603 G A 3 0 51 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150649984 G C 0 0 1 KCNH2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +7 150652419 T C 1 0 20 KCNH2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +7 150652420 G A 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +7 150654622 A AG 107 0 214 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +7 150655624 T C 9 0 70 KCNH2 2.0 0 0 -2 0 0 2 1 0 0 0 1 0 4 +7 150655643 G A 9 0 70 KCNH2 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +7 150656690 G A 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 0 0 3 0 0 7 +7 150671769 G A 0 0 1 KCNH2 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +7 150671772 C G 0 0 1 KCNH2 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +7 150671793 T C 0 0 1 KCNH2 2.0 0 0 2 0 0 1 1 1 0 0 0 0 7 +7 150675078 C G 0 0 1 KCNH2 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +7 151254175 T C 46 0 139 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151254231 C T 0 0 3 PRKAG2 0 0 0 0 0 0 0 1 0 0 0 0 4 5 +7 151254443 G A 0 0 8 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151254445 T C 46 0 139 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151262385 T C 0 0 8 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151262528 A C 0 0 1 PRKAG2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +7 151267237 GA GAA 0 0 2 PRKAG2 0 0 0 4.0 0 0 0 1 0 0 0 0 0 5 +7 151267292 T A 0 0 1 PRKAG2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 151267353 G A 2 0 23 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151267397 G A 6 0 40 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151269890 T A 2 0 23 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151269916 C T 2 0 23 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151292395 A AT 59 0 156 PRKAG2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +7 151292609 G A 0 0 1 PRKAG2 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +7 151292614 C T 0 0 1 PRKAG2 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +7 151329345 G A 0 0 2 PRKAG2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +7 151372472 C T 0 0 1 PRKAG2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +7 151372744 A G 0 0 1 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151478187 A G 0 0 10 PRKAG2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +7 151478227 C G 0 0 1 PRKAG2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +7 151483608 A T 0 0 1 PRKAG2 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +7 151573549 G A 1 0 7 PRKAG2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +7 151573580 G A 0 0 7 PRKAG2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +7 151573731 G A 2 0 26 PRKAG2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +8 11566168 C T 0 0 1 GATA4 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +8 11606364 G C 1 0 23 GATA4 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +8 11607658 C T 0 0 1 GATA4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +8 11607693 C T 0 0 1 GATA4 0 0 0 0 0 0 0 1 0 0 3 0 0 4 +8 11612512 C T 0 0 1 GATA4 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +8 11612519 A C 0 0 1 GATA4 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +8 11612665 A T 0 0 1 GATA4 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +8 11612698 C A 33 0 119 GATA4 0 0 0 -2 0 0 0 1 1 0 0 2 0 2 +8 11614575 A G 2 0 21 GATA4 0 0 0 -2 0 0 0 1 1 0 1.5 0 0 1.5 +8 11616015 C T 0 0 1 GATA4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +8 74888494 C T 10 0 61 TMEM70 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +8 74888616 G C 5 0 42 TMEM70 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +8 74890961 A G 25 0 106 TMEM70 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +8 74890985 C T 0 0 2 TMEM70 0 0 0 0 0 0 0 1 1 0 0 0 0 2 +8 74891164 A G 5 0 42 TMEM70 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +8 74893419 C G 0 0 3 TMEM70 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +8 74893653 G A 0 0 5 TMEM70 0 0 0 -2 0 0 0 2 0 0 0 0 0 0 +8 74893727 A G 0 0 1 TMEM70 0 0 0 2 0 0 0 2 0 0 0 0 0 4 +8 74893821 A G 6 0 45 TMEM70 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +8 74893839 C T 0 0 1 TMEM70 0 0 0 2 0 0 0 1 0 0 1.5 0 0 4.5 +8 74893850 C G 6 0 45 TMEM70 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +8 74893880 C T 25 0 106 TMEM70 0 0 0 -2 0 0 0 2 0 0 0 0 0 0 +9 7161999 A C 0 0 6 KDM4C 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +9 7162001 CT C 0 0 2 KDM4C 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +9 7162074 A C 0 0 5 KDM4C 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +9 7162249 C G 0 0 1 KDM4C 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +9 7162351 G A 14 0 73 KDM4C 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +9 7162437 G A 0 0 1 KDM4C 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +9 71650692 G A 3 0 9 FXN 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +9 71650752 A G 107 0 214 FXN 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +9 71650878 C T 0 0 1 FXN 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +9 71650906 G GGCCGCAC 0 0 4 FXN 2.0 0 0 0 0 0 1 1 1 0 0 0 4 9 +9 71661314 G A 0 0 1 FXN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +9 71667986 G A 16 0 86 FXN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +9 71668197 T C 33 0 120 FXN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +9 71680034 C T 0 0 1 FXN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +9 71687440 C T 20 0 91 FXN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +9 71687451 G A 0 0 1 FXN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +9 103340369 G A 18 0 84 CAVIN4 0 0 0 -2 0 0 0 0 1 0 0 1 0 0 +9 103340875 T C 11 0 65 CAVIN4 0 0 0 -2 0 0 0 0 1 0 0 1 0 0 +9 103348157 G C 0 0 1 CAVIN4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +9 103348208 A T 0 0 4 CAVIN4 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +9 103348340 A G 0 0 2 CAVIN4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +9 103348343 G A 0 0 2 CAVIN4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +9 103348352 A G 0 0 2 CAVIN4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +9 103348538 C T 0 0 1 CAVIN4 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +9 103348634 G A 18 0 84 CAVIN4 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +9 108363426 C T 0 0 8 FKTN 2.0 0 0 -2 0 1 0 1 0 0 6 0 0 8 +9 108366499 G A 0 0 1 FKTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +9 108366734 G A 7 0 55 FKTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 1 0 3.5 +9 108370163 C G 0 0 1 FKTN 2.0 0 0 2 0 0 0 2 0 0 1.5 0 0 7.5 +9 108380223 T A 0 0 2 FKTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +9 108380355 C A 7 0 55 FKTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +9 108380417 A G 0 0 4 FKTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +9 108397426 T C 0 0 1 FKTN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +9 131707989 G A 0 0 1 DOLK 2.0 0 0 2 0 0 0 2 0 0 3 0 0 9 +9 131708145 T C 0 0 1 DOLK 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +9 131708504 T C 0 0 1 DOLK 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +9 131708883 T C 0 0 1 DOLK 2.0 0 0 0 0 0 1 1 1 0 1.5 0 0 6.5 +9 131709581 A AT 0 0 1 DOLK 2.0 0 0 -2 8 0 1 1 1 0 0 0 0 11
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/efile.txt Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,6 @@ +splicing +stopgain +stoploss +frameshift_deletion +frameshift_substitution +frameshift_insertion
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/kfile.txt Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,24 @@ +Func.refGene Effect +ExonicFunc.refGene Effect +dbscSNV_ADA_SCORE Splice +dbscSNV_RF_SCORE Splice +esp6500siv2_ea AF +1000g2015aug_all AF +ExAC_nontcga_NFE AF +Kaviar_AF AF +AF_nfe AF +CADD_raw NStool +MetaSVM_pred NStool +Polyphen2_HDIV_pred NStool +SIFT_pred NStool +CLNSIG Dis_annot +CLNDN Dis_DN +CLNDISDB Dis_DB +ENSEMBLReg Reg +ORegAnno_REGULATORY_R Reg +ENSmiRNA mirna +ORegmiRNA mirna +ENSTFBS tfbs +ORegAnno_REGULATORY_TFBS tfbs +GWAS gwas +nCER95 mirna
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/qfile.txt Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,2 @@ +Heart_Left_Ventricle +Heart_Atrial_Appendage
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/sfile.txt Wed Jul 15 07:52:10 2020 +0000 @@ -0,0 +1,23 @@ +pressure +atrial +cardiac +brugada +ventricular +stroke +cardio +atrial +fibrillation +arrhythmogenic +arrhythmia +cardio +brugada +aortic +aorta +valve +biscupid +repolarization +tachycardia +long qt +bradycardia +qrs duration +pressure